Florbetapir PET, FDG PET, and MRI in Down syndrome individuals with and without Alzheimer's dementia.

PubMed

Sabbagh, Marwan N; Chen, Kewei; Rogers, Joseph; Fleisher, Adam S; Liebsack, Carolyn; Bandy, Dan; Belden, Christine; Protas, Hillary; Thiyyagura, Pradeep; Liu, Xiaofen; Roontiva, Auttawut; Luo, Ji; Jacobson, Sandra; Malek-Ahmadi, Michael; Powell, Jessica; Reiman, Eric M

2015-08-01

Down syndrome (DS) is associated with amyloid b (Ab) deposition. We characterized imaging measurements of regional fibrillar Ab burden, cerebral metabolic rate for glucose (rCMRgl), gray matter volumes (rGMVs), and age associations in 5 DS with dementia (DS/AD1), 12 DS without dementia (DS/AD2), and 9 normal controls (NCs). There were significant group differences in mean standard uptake value ratios (SUVRs) for florbetapir with DS/AD1 having the highest, followed by DS/AD2, followed by NC. For [18F]-fluorodeoxyglucose positron emission tomography, posterior cingulate rCMRgl in DS/AD1 was significantly reduced compared with DS/AD2 and NC. For volumetric magnetic resonance imaging (vMRI), hippocampal volumes were significantly reduced for the DS/AD1 compared with DS/AD2 and NC. Age-related SUVR increases and rCMRgl reductions were greater in DS participants than in NCs. DS is associated with fibrillar Ab, rCMRgl, and rGMV alterations in the dementia stage and before the presence of clinical decline. This study provides a foundation for the studies needed to inform treatment and prevention in DS. Copyright © 2015 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

A Strategy Using Photodynamic Therapy and Clofibric Acid to Treat Peritoneal Dissemination of Ovarian Cancer.

PubMed

Yokoyama, Yoshihito; Shigeto, Tatsuhiko; Miura, Rie; Kobayashi, Asami; Mizunuma, Makito; Yamauchi, Aisa; Futagami, Masayuki; Mizunuma, Hideki

2016-01-01

The current study examined the effectiveness of concurrent therapy using photodynamic therapy (PDT) and clofibric acid (CA) to treat peritoneal carcinomatosis resulting from ovarian cancer. Nude rats were used to create a model of peritoneal carcinomatosis resulting from ovarian cancer and the effectiveness of PDT with 5-aminolevulinic acid methyl ester hydrochloride (methyl-ALA-PDT) was determined. The survival time of rats receiving that therapy was compared to the survival time of a control group. Rats with peritoneal carcinomatosis resulting from ovarian cancer were divided into 3 groups: a group that received debulking surgery (DS) alone, a group that received DS+methyl-ALA-PDT, and a group that received DS+methyl-ALA-PDT+CA. The survival time of the 3 groups was compared. Protoporphyrin, a metabolite of methyl-ALA, produces a photochemical action when activated by light. The level of protoporphyrin (the concentration) that reached organs in the abdomen was measured with HPLC. Rats receiving methyl- ALA-PDT had a significantly longer survival time compared to the controls. Rats with peritoneal carcinomatosis that received DS+methyl-ALA-PDT+CA had a significantly longer survival time compared to the rats that received DS alone. Some of the rats that received concurrent therapy survived for a prolonged period. Protoporphyrin was highly concentrated in peritoneal metastases, but only small amounts reached major organs in the abdomen. PDT was not found to result in necrosis in the intestines. The results indicated that concurrent therapy consisting of PDT with methyl-ALA and CA is effective at treating peritoneal carcinomatosis resulting from ovarian cancer without damaging organs.

Everyday executive functions in Down syndrome from early childhood to young adulthood: evidence for both unique and shared characteristics compared to youth with sex chromosome trisomy (XXX and XXY).

PubMed

Lee, Nancy Raitano; Anand, Payal; Will, Elizabeth; Adeyemi, Elizabeth I; Clasen, Liv S; Blumenthal, Jonathan D; Giedd, Jay N; Daunhauer, Lisa A; Fidler, Deborah J; Edgin, Jamie O

2015-01-01

Executive functions (EF) are thought to be impaired in Down syndrome (DS) and sex chromosome trisomy (Klinefelter and Trisomy X syndromes; +1X). However, the syndromic specificity and developmental trajectories associated with EF difficulties in these groups are poorly understood. The current investigation (a) compared everyday EF difficulties in youth with DS, +1X, and typical development (TD); and (b) examined relations between age and EF difficulties in these two groups and a TD control group cross-sectionally. Study 1 investigated the syndromic specificity of EF profiles on the Behavior Rating Inventory of Executive Function (BRIEF) in DS (n = 30), +1X (n = 30), and a TD group (n = 30), ages 5-18 years. Study 2 examined age effects on EF in the same cross-sectional sample of participants included in Study 1. Study 3 sought to replicate Study 2's findings for DS by examining age-EF relations in a large independent sample of youth with DS (n = 85) and TD (n = 43), ages 4-24 years. Study 1 found evidence for both unique and shared EF impairments for the DS and +1X groups. Most notably, youth with +1X had relatively uniform EF impairments on the BRIEF scales, while the DS group showed an uneven BRIEF profile with relative strengths and weaknesses. Studies 2 and 3 provided support for fairly similar age-EF relations in the DS and TD groups. In contrast, for the +1X group, findings were mixed; 6 BRIEF scales showed similar age-EF relations to the TD group and 2 showed greater EF difficulties at older ages for +1X. These findings will be discussed within the context of efforts to identify syndrome specific cognitive-behavioral profiles for youth with different genetic syndromes in order to inform basic science investigations into the etiology of EF difficulties in these groups and to develop treatment approaches that are tailored to the needs of these groups.

Everyday executive functions in Down syndrome from early childhood to young adulthood: evidence for both unique and shared characteristics compared to youth with sex chromosome trisomy (XXX and XXY)

PubMed Central

Lee, Nancy Raitano; Anand, Payal; Will, Elizabeth; Adeyemi, Elizabeth I.; Clasen, Liv S.; Blumenthal, Jonathan D.; Giedd, Jay N.; Daunhauer, Lisa A.; Fidler, Deborah J.; Edgin, Jamie O.

2015-01-01

Executive functions (EF) are thought to be impaired in Down syndrome (DS) and sex chromosome trisomy (Klinefelter and Trisomy X syndromes; +1X). However, the syndromic specificity and developmental trajectories associated with EF difficulties in these groups are poorly understood. The current investigation (a) compared everyday EF difficulties in youth with DS, +1X, and typical development (TD); and (b) examined relations between age and EF difficulties in these two groups and a TD control group cross-sectionally. Study 1 investigated the syndromic specificity of EF profiles on the Behavior Rating Inventory of Executive Function (BRIEF) in DS (n = 30), +1X (n = 30), and a TD group (n = 30), ages 5–18 years. Study 2 examined age effects on EF in the same cross-sectional sample of participants included in Study 1. Study 3 sought to replicate Study 2's findings for DS by examining age-EF relations in a large independent sample of youth with DS (n = 85) and TD (n = 43), ages 4–24 years. Study 1 found evidence for both unique and shared EF impairments for the DS and +1X groups. Most notably, youth with +1X had relatively uniform EF impairments on the BRIEF scales, while the DS group showed an uneven BRIEF profile with relative strengths and weaknesses. Studies 2 and 3 provided support for fairly similar age-EF relations in the DS and TD groups. In contrast, for the +1X group, findings were mixed; 6 BRIEF scales showed similar age-EF relations to the TD group and 2 showed greater EF difficulties at older ages for +1X. These findings will be discussed within the context of efforts to identify syndrome specific cognitive-behavioral profiles for youth with different genetic syndromes in order to inform basic science investigations into the etiology of EF difficulties in these groups and to develop treatment approaches that are tailored to the needs of these groups. PMID:26539087

Neural correlates of reward processing in adults with 22q11 deletion syndrome.

PubMed

van Duin, Esther D A; Goossens, Liesbet; Hernaus, Dennis; da Silva Alves, Fabiana; Schmitz, Nicole; Schruers, Koen; van Amelsvoort, Therese

2016-01-01

22q11.2 deletion syndrome (22q11DS) is caused by a microdeletion on chromosome 22q11.2 and associated with an increased risk to develop psychosis. The gene coding for catechol-O-methyl-transferase (COMT) is located at the deleted region, resulting in disrupted dopaminergic neurotransmission in 22q11DS, which may contribute to the increased vulnerability for psychosis. A dysfunctional motivational reward system is considered one of the salient features in psychosis and thought to be related to abnormal dopaminergic neurotransmission. The functional anatomy of the brain reward circuitry has not yet been investigated in 22q11DS. This study aims to investigate neural activity during anticipation of reward and loss in adult patients with 22q11DS. We measured blood-oxygen-level dependent (BOLD) activity in 16 patients with 22q11DS and 12 healthy controls during a monetary incentive delay task using a 3T Philips Intera MRI system. Data were analysed using SPM8. During anticipation of reward, the 22q11DS group alone displayed significant activation in bilateral middle frontal and temporal brain regions. Compared to healthy controls, significantly less activation in bilateral cingulate gyrus extending to premotor, primary motor and somatosensory areas was found. During anticipation of loss, the 22q11DS group displayed activity in the left middle frontal gyrus and anterior cingulate cortex, and relative to controls, they showed reduced brain activation in bilateral (pre)cuneus and left posterior cingulate. Within the 22q11DS group, COMT Val hemizygotes displayed more activation compared to Met hemizygotes in right posterior cingulate and bilateral parietal regions during anticipation of reward. During anticipation of loss, COMT Met hemizygotes compared to Val hemizygotes showed more activation in bilateral insula, striatum and left anterior cingulate. This is the first study to investigate reward processing in 22q11DS. Our preliminary results suggest that people with 22q11DS engage a fronto-temporal neural network. Compared to healthy controls, people with 22q11DS primarily displayed reduced activity in medial frontal regions during reward anticipation. COMT hemizygosity affects responsivity of the reward system in this condition. Alterations in reward processing partly underlain by the dopamine system may play a role in susceptibility for psychosis in 22q11DS.

Simulated Keratometry Repeatability in Subjects with & without Down Syndrome

PubMed Central

Ravikumar, Ayeswarya; Marsack, Jason D.; Benoit, Julia S.; Anderson, Heather A.

2016-01-01

Purpose To assess the repeatability of simulated keratometry measures obtained with Zeiss Atlas topography for subjects with and without Down syndrome (DS). Methods Corneal topography was attempted on 140 subjects with DS and 138 controls (aged 7 to 59 years). Subjects who had at least 3 measures in each eye were included in analysis (DS: n=140 eyes (70 subjects) and controls: n=264 eyes (132 subjects)). For each measurement the steep corneal power (K), corneal astigmatism, flat K orientation, power vector representation of astigmatism (J0, J45), and astigmatic dioptric difference were determined for each measurement (collectively termed keratometry values here). For flat K orientation comparisons, only eyes with >0.50 DC of astigmatism were included (DS: n=131 eyes (68 subjects) and control: n=217 eyes (119 subjects)). Repeatability was assessed using 1) group mean variability (average standard deviation (SD) across subjects), 2) coefficient of repeatability (COR) 3) coefficient of variation (COV), and 4) intraclass correlation coefficient (ICC). Results The keratometry values showed good repeatability as evidenced by low group mean variability for DS vs control eyes (≤0.26D vs ≤0.09D for all dioptric values; 4.51° vs 3.16° for flat K orientation); however, the group mean variability was significantly higher in DS eyes than control eyes for all parameters (p≤0.03). On average, group mean variability was 2.5× greater in the DS eyes compared to control eyes across the keratometry values. Other metrics of repeatability also indicated good repeatability for both populations for each keratometry value, although repeatability was always better in the control eyes. Conclusions DS eyes showed more variability (on average: 2.5×) compared to controls for all keratometry values. Although differences were statistically significant, on average 91% of DS eyes had variability ≤0.50D for steep K and astigmatism, and 75% of DS eyes had variability ≤5 degrees for flat K orientation. PMID:27741083

Longitudinal telomere shortening and early Alzheimer's disease progression in adults with down syndrome.

PubMed

Jenkins, Edmund C; Marchi, Elaine J; Velinov, Milen T; Ye, Lingling; Krinsky-McHale, Sharon J; Zigman, Warren B; Schupf, Nicole; Silverman, Wayne P

2017-12-01

Telomere shortening was shown to parallel Alzheimer's disease (AD) associated dementia. By using a dual PNA Probe system we have developed a practical method for comparing telomere length in T-lymphocyte interphases from individuals with Down syndrome (DS) with and without "mild cognitive impairment" (MCI-DS) and demonstrated that telomere length can serve as a valid biomarker for the onset of MCI-DS in this high-risk population. To verify progressive cognitive decline we have now examined sequential changes in telomere length in 10 adults with DS (N = 4 Female, N = 6 Male) developing MCI-DS. Cases were selected blind to telomere length from a sample of adults with DS previously enrolled in a prospective longitudinal study at 18-month intervals with clinical and telomere assessments: (1) MCI-DS group data were collected approximately three years prior to development of MCI-DS; (2) 18 months later; (3) when MCI-DS was first observed. These telomere measures were compared to those from another 10 adults with DS matched by sex and approximate age but without indications of MCI-DS (Controls). PNA (peptide nucleic acid) probes for telomeres together with a chromosome two centromere probe were used. Findings indicated telomere shortening over time for both Cases and Controls. Group differences emerged by 18-months prior to recognition of MCI-DS onset and completely non-overlapping distributions of telomere measures were observed by the time of MCI-DS onset. This study adds to accumulating evidence of the value of telomere length, as an early biomarker of AD progression in adults with Down syndrome. © 2017 Wiley Periodicals, Inc.

Oral health status and reasons for not attending dental care among 12- to 16-year-old children with Down syndrome in special needs centres in Jordan.

PubMed

Al Habashneh, R; Al-Jundi, S; Khader, Y; Nofel, N

2012-11-01

The objective of this study was to assess oral health status, treatment needs, soft and hard tissue findings, as well as reasons for not attending dental care among children with Down syndrome (DS) registered in special needs centres in Jordan. The sample consisted of a total of 206 participants with a mean age of 13.66 ± 1.47 comprising 103 with DS and 103 age- and gender-matched non-DS/public school children. Clinical levels of oral hygiene were assessed using Simplified Oral hygiene index, and caries detection was carried out according to WHO caries recording criteria. Children who had DS had a significantly higher percentage of surfaces with severe gingival index (39.9 ± 9.1 versus 15.9 ± 8.0, P < 0.001) and a higher mean of probing pocket depth than children without DS (2.27 ± 0.2 versus 1.81 ± 0.32, P < 0.000). Significantly more peg-shaped maxillary lateral incisors and retained primary teeth (P < 0.001) were observed in subjects with DS, compared with non-DS children. Average decayed, missing and filled teeth (DMFT) was significantly lower in male children with DS compared with male non-DS children only (P = 0.034). The most common reason cited for not taking children to the dentist for DS group was 'Not aware of the dental problems of their children' and for non-DS groups 'No awareness of the importance of dental visit' (61.2% and 53%, respectively). While having similar caries level, Jordanian teenagers with DS had more dental anomalies, poorer periodontal health and less dental attendance than age- and gender-matched non-DS/public school children. © 2012 John Wiley & Sons A/S.

Effect of sodium overload on renal function of offspring from diabetic mothers.

PubMed

Rocco, Luigi; Gil, Frida Zaladek; da Fonseca Pletiskaitz, Thaís Maria; de Fátima Cavanal, Maria; Gomes, Guiomar Nascimento

2008-11-01

The aim if this study was to evaluate the effect of sodium overload on blood pressure and renal function in the offspring of diabetic rat mothers. Diabetes was induced with a single dose of streptozotocin before mating. Experimental groups were control (C), offspring from diabetic mother (D), control with sodium chloride (NaCl) overload (CS), and offspring from diabetic mother submitted to NaCl overload (DS). After weaning, all groups received food ad libitum; groups C and D had water ad libitum, and CS and DS received NaCl 0.15 M as drinking water. Renal morphology and function were evaluated in 3-month-old rats. Glomerular area, macrophage infiltration, interlobular artery wall thickness, and renal vascular resistance were significantly increased in CS, D, and DS compared with C. Renal plasma flow (RPF) and glomerular filtration rate (GFR) were decreased in CS and D compared with C. In DS, GFR and fractional filtration were increased, suggesting a state of hyperfiltration. Hypertension was observed in groups D, CS, and DS from 2 months on and was more severe in DS. Our data suggest that diabetes during intrauterine development and salt overload beginning at an early age can cause hypertension and renal injury. When these conditions were associated, morphological and functional changes were much more intense, suggesting acceleration in the process of kidney injury.

Wideband acoustic immittance in children with Down syndrome: prediction of middle-ear dysfunction, conductive hearing loss and patent PE tubes.

PubMed

Hunter, Lisa L; Keefe, Douglas H; Feeney, M Patrick; Brown, David K; Meinzen-Derr, Jareen; Elsayed, Alaaeldin M; Amann, Julia M; Manickam, Vairavan; Fitzpatrick, Denis; Shott, Sally R

2017-09-01

The purpose of this study was to evaluate pressurised wideband acoustic immittance (WAI) tests in children with Down syndrome (DS) and in typically developing children (TD) for prediction of conductive hearing loss (CHL) and patency of pressure equalising tubes (PETs). Audiologic diagnosis was determined by audiometry in combination with distortion-product otoacoustic emissions, 0.226 kHz tympanometry and otoscopy. WAI results were compared for ears within diagnostic categories (Normal, CHL and PET) and between groups (TD and DS). Children with DS (n = 40; mean age 6.4 years), and TD children (n = 48; mean age 5.1 years) were included. Wideband absorbance was significantly lower at 1-4 kHz in ears with CHL compared to NH for both TD and DS groups. In ears with patent PETs, wideband absorbance and group delay (GD) were larger than in ears without PETs between 0.25 and 1.5 kHz. Wideband absorbance tests were performed similarly for prediction of CHL and patent PETs in TD and DS groups. Wideband absorbance and GD revealed specific patterns in both TD children and those with DS that can assist in detection of the presence of significant CHL, assess the patency of PETs, and provide frequency-specific information in the audiometric range.

Gait patterns in Prader-Willi and Down syndrome patients

PubMed Central

2010-01-01

Background Prader-Willi (PWS) and Down Syndrome (DS) are two genetic disorders characterised by some common clinical and functional features. A quantitative description and comparison of their patterns would contribute to a deeper understanding of the determinants of motor disability in these two syndromes. The aim of this study was to measure gait pattern in PWS and DS in order to provide data for developing evidence-based deficit-specific or common rehabilitation strategies. Methods 19 PWS patients (17.7-40 yr) and 21 DS patients (18-39 yr) were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters during walking. The results were compared with those obtained in a group of normal-weight controls (Control Group: CG; 33.4 + 9.6 yr). Results and Discussion The results show that PWS and DS are characterised by different gait strategies. Spatio-temporal parameters indicated a cautious, abnormal gait in both groups, but DS walked with a less stable strategy than PWS. As for kinematics, DS showed a significantly reduced hip and knee flexion, especially at initial contact and ankle range of motion than PWS. DS were characterised by lower ranges of motion (p < 0.05) in all joints than CG and PWS. As for ankle kinetics, both PWS and DS showed a significantly lower push-off during terminal stance than CG, with DS yielding the lowest values. Stiffness at hip and ankle level was increased in DS. PWS showed hip stiffness values close to normal. At ankle level, stiffness was significantly decreased in both groups. Conclusions Our data show that DS walk with a less physiological gait pattern than PWS. Based on our results, PWS and DS patients need targeted rehabilitation and exercise prescription. Common to both groups is the aim to improve hypotonia, muscle strength and motor control during gait. In DS, improving pelvis and hip range of motion should represent a major specific goal to optimize gait pattern. PMID:20565926

Gait patterns in Prader-Willi and Down syndrome patients.

PubMed

Cimolin, Veronica; Galli, Manuela; Grugni, Graziano; Vismara, Luca; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

2010-06-21

Prader-Willi (PWS) and Down Syndrome (DS) are two genetic disorders characterised by some common clinical and functional features. A quantitative description and comparison of their patterns would contribute to a deeper understanding of the determinants of motor disability in these two syndromes. The aim of this study was to measure gait pattern in PWS and DS in order to provide data for developing evidence-based deficit-specific or common rehabilitation strategies. 19 PWS patients (17.7-40 yr) and 21 DS patients (18-39 yr) were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters during walking. The results were compared with those obtained in a group of normal-weight controls (Control Group: CG; 33.4 + 9.6 yr). The results show that PWS and DS are characterised by different gait strategies. Spatio-temporal parameters indicated a cautious, abnormal gait in both groups, but DS walked with a less stable strategy than PWS. As for kinematics, DS showed a significantly reduced hip and knee flexion, especially at initial contact and ankle range of motion than PWS. DS were characterised by lower ranges of motion (p < 0.05) in all joints than CG and PWS. As for ankle kinetics, both PWS and DS showed a significantly lower push-off during terminal stance than CG, with DS yielding the lowest values. Stiffness at hip and ankle level was increased in DS. PWS showed hip stiffness values close to normal. At ankle level, stiffness was significantly decreased in both groups. Our data show that DS walk with a less physiological gait pattern than PWS. Based on our results, PWS and DS patients need targeted rehabilitation and exercise prescription. Common to both groups is the aim to improve hypotonia, muscle strength and motor control during gait. In DS, improving pelvis and hip range of motion should represent a major specific goal to optimize gait pattern.

Children with Down Syndrome: oral development and morphology after use of palatal plates between 6 and 18 months of age.

PubMed

Bäckman, B; Grevér-Sjölander, A-C; Holm, A-K; Johansson, I

2003-09-01

The aim of this study was to describe oral development and morphology in 18-month-old children with Down syndrome (DS) treated with palatal plates in combination with structured communication and speech training. The aim is further to describe the design of the palatal plates, compliance in their use and to give a brief report of their effect on oral motor function and speech. Forty-two children with DS were followed from < or = 6 months of age until 18+/-3 months old. In addition to language intervention, and oral motor and sensory stimulation provided by speech therapists for all children with DS in Sweden, palatal plates provided by dentists are included in the training programme. In the evaluation, the children in the project were compared with two control groups of children matched for age; one group of children with DS who had not been treated with palatal plates, and one group of children with normal development. Compared to the children with normal development, both groups of children with DS had fewer teeth erupted and a lower prevalence of sucking habits. Deviant morphology of the tongue in the form of diastase, lingua plicata or a sulcus in the anterior third of the tongue was only seen in children with DS. All children with normal development had positive values for overjet compared to 53% of the children with DS. The palatal plates were used 2-3 times daily for a total mean time of 15 min. Compliance in use of the plates decreased with age, mainly due to eruption of teeth and subsequent loss of retention. Evaluation of oral motor function and speech show that the children with DS in the project had better motor prerequisites for articulation than the control children with DS. Palatal plate therapy did not affect oral parameters, i.e., eruption of teeth, types and prevalence of sucking habits, tongue morphology and symptoms of hypotonia. In combination with oral motor and sensory stimulation, palatal plate therapy had a positive effect on oral motor performance and prerequisites for articulation.

Efficacy of preoperative biliary drainage in malignant obstructive jaundice: a meta-analysis and systematic review.

PubMed

Moole, Harsha; Bechtold, Matthew; Puli, Srinivas R

2016-07-11

In patients requiring surgical resection for malignant biliary jaundice, it is unclear if preoperative biliary drainage (PBD) would improve mortality and morbidity by restoration of biliary flow prior to operation. This is a meta-analysis to pool the evidence and assess the utility of PBD in patients with malignant obstructive jaundice. The primary outcome is comparing mortality outcomes in patients with malignant obstructive jaundice undergoing direct surgery (DS) versus PBD. The secondary outcomes include major adverse events and length of hospital stay in both the groups. Studies using PBD in patients with malignant obstructive jaundice were included in this study. For the data collection and extraction, articles were searched in MEDLINE, PubMed, Embase, Cochrane Central Register of Controlled Trials & Database of Systematic Reviews, etc. Pooled proportions were calculated using both Mantel-Haenszel method (fixed effects model) and DerSimonian-Laird method (random effects model). Initial search identified 2230 reference articles, of which 204 were selected and reviewed. Twenty-six studies (N = 3532) for PBD in malignant obstructive jaundice which met the inclusion criteria were included in this analysis. The odds ratio for mortality in PBD group versus DS group was 0.96 (95 % CI = 0.71 to 1.29). Pooled number of major adverse effects was lower in the PBD group at 10.40 (95 % CI = 9.96 to 10.83) compared to 15.56 (95 % CI = 15.06 to 16.05) in the DS group. Subgroup analysis comparing internal PBD to DS group showed lower odds for major adverse events (odds ratio, 0.48 with 95 % CI = 0.32 to 0.74). In patients with malignant biliary jaundice requiring surgery, PBD group had significantly less major adverse effects than DS group. Length of hospital stay and mortality rate were comparable in both the groups.

Social and monetary reward processing in autism spectrum disorders

PubMed Central

2012-01-01

Background Social motivation theory suggests that deficits in social reward processing underlie social impairments in autism spectrum disorders (ASD). However, the extent to which abnormalities in reward processing generalize to other classes of stimuli remains unresolved. The aim of the current study was to examine if reward processing abnormalities in ASD are specific to social stimuli or can be generalized to other classes of reward. Additionally, we sought to examine the results in the light of behavioral impairments in ASD. Methods Participants performed adapted versions of the social and monetary incentive delay tasks. Data from 21 unmedicated right-handed male participants with ASD and 21 age- and IQ-matched controls were analyzed using a factorial design to examine the blood-oxygen-level-dependent (BOLD) response during the anticipation and receipt of both reward types. Results Behaviorally, the ASD group showed less of a reduction in reaction time (RT) for rewarded compared to unrewarded trials than the control group. In terms of the fMRI results, there were no significant group differences in reward circuitry during reward anticipation. During the receipt of rewards, there was a significant interaction between group and reward type in the left dorsal striatum (DS). The ASD group showed reduced activity in the DS compared to controls for social rewards but not monetary rewards and decreased activation for social rewards compared to monetary rewards. Controls showed no significant difference between the two reward types. Increased activation in the DS during social reward processing was associated with faster response times for rewarded trials, compared to unrewarded trials, in both groups. This is in line with behavioral results indicating that the ASD group showed less of a reduction in RT for rewarded compared to unrewarded trials. Additionally, de-activation to social rewards was associated with increased repetitive behavior in ASD. Conclusions In line with social motivation theory, the ASD group showed reduced activation, compared to controls, during the receipt of social rewards in the DS. Groups did not differ significantly during the processing of monetary rewards. BOLD activation in the DS, during social reward processing, was associated with behavioral impairments in ASD. PMID:23014171

Social and monetary reward processing in autism spectrum disorders.

PubMed

Delmonte, Sonja; Balsters, Joshua H; McGrath, Jane; Fitzgerald, Jacqueline; Brennan, Sean; Fagan, Andrew J; Gallagher, Louise

2012-09-26

Social motivation theory suggests that deficits in social reward processing underlie social impairments in autism spectrum disorders (ASD). However, the extent to which abnormalities in reward processing generalize to other classes of stimuli remains unresolved. The aim of the current study was to examine if reward processing abnormalities in ASD are specific to social stimuli or can be generalized to other classes of reward. Additionally, we sought to examine the results in the light of behavioral impairments in ASD. Participants performed adapted versions of the social and monetary incentive delay tasks. Data from 21 unmedicated right-handed male participants with ASD and 21 age- and IQ-matched controls were analyzed using a factorial design to examine the blood-oxygen-level-dependent (BOLD) response during the anticipation and receipt of both reward types. Behaviorally, the ASD group showed less of a reduction in reaction time (RT) for rewarded compared to unrewarded trials than the control group. In terms of the fMRI results, there were no significant group differences in reward circuitry during reward anticipation. During the receipt of rewards, there was a significant interaction between group and reward type in the left dorsal striatum (DS). The ASD group showed reduced activity in the DS compared to controls for social rewards but not monetary rewards and decreased activation for social rewards compared to monetary rewards. Controls showed no significant difference between the two reward types. Increased activation in the DS during social reward processing was associated with faster response times for rewarded trials, compared to unrewarded trials, in both groups. This is in line with behavioral results indicating that the ASD group showed less of a reduction in RT for rewarded compared to unrewarded trials. Additionally, de-activation to social rewards was associated with increased repetitive behavior in ASD. In line with social motivation theory, the ASD group showed reduced activation, compared to controls, during the receipt of social rewards in the DS. Groups did not differ significantly during the processing of monetary rewards. BOLD activation in the DS, during social reward processing, was associated with behavioral impairments in ASD.

Brain Size and Cerebral Glucose Metabolic Rate in Nonspecific Retardation and Down Syndrome.

ERIC Educational Resources Information Center

Haier, Richard J.; And Others

1995-01-01

Brain size and cerebral glucose metabolic rate were determined for 10 individuals with mild mental retardation (MR), 7 individuals with Down syndrome (DS), and 10 matched controls. MR and DS groups both had brain volumes of about 80% compared to controls, with variance greatest within the MR group. (SLD)

Autism spectrum disorder in Down syndrome: cluster analysis of Aberrant Behaviour Checklist data supports diagnosis.

PubMed

Ji, N Y; Capone, G T; Kaufmann, W E

2011-11-01

The diagnostic validity of autism spectrum disorder (ASD) based on Diagnostic and Statistical Manual of Mental Disorders (DSM) has been challenged in Down syndrome (DS), because of the high prevalence of cognitive impairments in this population. Therefore, we attempted to validate DSM-based diagnoses via an unbiased categorisation of participants with a DSM-independent behavioural instrument. Based on scores on the Aberrant Behaviour Checklist - Community, we performed sequential factor (four DS-relevant factors: Autism-Like Behaviour, Disruptive Behaviour, Hyperactivity, Self-Injury) and cluster analyses on a 293-participant paediatric DS clinic cohort. The four resulting clusters were compared with DSM-delineated groups: DS + ASD, DS + None (no DSM diagnosis), DS + DBD (disruptive behaviour disorder) and DS + SMD (stereotypic movement disorder), the latter two as comparison groups. Two clusters were identified with DS + ASD: Cluster 1 (35.1%) with higher disruptive behaviour and Cluster 4 (48.2%) with more severe autistic behaviour and higher percentage of late onset ASD. The majority of participants in DS + None (71.9%) and DS + DBD (87.5%) were classified into Cluster 2 and 3, respectively, while participants in DS + SMD were relatively evenly distributed throughout the four clusters. Our unbiased, DSM-independent analyses, using a rating scale specifically designed for individuals with severe intellectual disability, demonstrated that DSM-based criteria of ASD are applicable to DS individuals despite their cognitive impairments. Two DS + ASD clusters were identified and supported the existence of at least two subtypes of ASD in DS, which deserve further characterisation. Despite the prominence of stereotypic behaviour in DS, the SMD diagnosis was not identified by cluster analysis, suggesting that high-level stereotypy is distributed throughout DS. Further supporting DSM diagnoses, typically behaving DS participants were easily distinguished as a group from those with maladaptive behaviours. © 2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd.

The Dissociative Subtype of Posttraumatic Stress Disorder: Unique Resting-State Functional Connectivity of Basolateral and Centromedial Amygdala Complexes

PubMed Central

Nicholson, Andrew A; Densmore, Maria; Frewen, Paul A; Théberge, Jean; Neufeld, Richard WJ; McKinnon, Margaret C; Lanius, Ruth A

2015-01-01

Previous studies point towards differential connectivity patterns among basolateral (BLA) and centromedial (CMA) amygdala regions in patients with posttraumatic stress disorder (PTSD) as compared with controls. Here we describe the first study to compare directly connectivity patterns of the BLA and CMA complexes between PTSD patients with and without the dissociative subtype (PTSD+DS and PTSD−DS, respectively). Amygdala connectivity to regulatory prefrontal regions and parietal regions involved in consciousness and proprioception were expected to differ between these two groups based on differential limbic regulation and behavioral symptoms. PTSD patients (n=49) with (n=13) and without (n=36) the dissociative subtype and age-matched healthy controls (n=40) underwent resting-state fMRI. Bilateral BLA and CMA connectivity patterns were compared using a seed-based approach via SPM Anatomy Toolbox. Among patients with PTSD, the PTSD+DS group exhibited greater amygdala functional connectivity to prefrontal regions involved in emotion regulation (bilateral BLA and left CMA to the middle frontal gyrus and bilateral CMA to the medial frontal gyrus) as compared with the PTSD−DS group. In addition, the PTSD+DS group showed greater amygdala connectivity to regions involved in consciousness, awareness, and proprioception—implicated in depersonalization and derealization (left BLA to superior parietal lobe and cerebellar culmen; left CMA to dorsal posterior cingulate and precuneus). Differences in amygdala complex connectivity to specific brain regions parallel the unique symptom profiles of the PTSD subgroups and point towards unique biological markers of the dissociative subtype of PTSD. PMID:25790021

Relationship between CHA2DS2-VASc score and atrial electromechanical function in patients with paroxysmal atrial fibrillation: A pilot study.

PubMed

Vatan, Mehmet Bülent; Yılmaz, Sabiye; Ağaç, Mustafa Tarık; Çakar, Mehmet Akif; Erkan, Hakan; Aksoy, Murat; Demirtas, Saadet; Varım, Ceyhun; Akdemir, Ramazan; Gündüz, Hüseyin

2015-11-01

CHA2DS2-VASc score is the most widely preferred method for prediction of stroke risk in patients with atrial fibrillation. We hypothesized that CHA2DS2-VASc score may represent atrial remodeling status, and therefore echocardiographic evaluation of left atrial electromechanical remodeling can be used to identify patients with high risk. A total of 65 patients who had documented diagnosis of paroxysmal atrial fibrillation (PAF) were divided into three risk groups according to the CHA2DS2-VASc score: patients with low risk (score=0, group 1), with moderate risk (score=1, group 2), and with high risk score (score ≥2, group 3). We compared groups according to atrial electromechanical intervals and left atrium mechanical functions. Atrial electromechanical intervals including inter-atrial and intra-atrial electromechanical delay were not different between groups. However, parameters reflecting atrial mechanical functions including LA phasic volumes (Vmax, Vmin and Vp) were significantly higher in groups 2 and 3 compared with group 1. Likewise, LA passive emptying volume (LATEV) in the groups 2 and 3 was significantly higher than low-risk group (14.12±8.13ml/m(2), 22.36±8.78ml/m(2), 22.89±7.23ml/m(2), p: 0.031). Univariate analysis demonstrated that Vmax, Vmin and Vp were significantly correlated with CHA2DS2-VASc score (r=0.428, r=0.456, r=0.451 and p<0.001). Also, LATEV (r=0.397, p=0.016) and LA active emptying volume (LAAEV) (r=0.281, p=0.023) were positively correlated with CHA2DS2-VASc score. In the ROC analysis, Vmin≥11ml/m(2) has the highest predictive value for CHA2DS2-VASc score ≥2 (88% sensitivity and 89% specificity; ROC area 0.88, p<0.001, CI [0.76-0.99]). Echocardiographic evaluation of left atrial electromechanical function might represent a useful method to identify patients with high risk. Copyright © 2015 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

Children with autism respond differently to spontaneous, elicited and deferred imitation.

PubMed

Heimann, M; Nordqvist, E; Strid, K; Connant Almrot, J; Tjus, T

2016-05-01

Imitation, a key vehicle for both cognitive and social development, is often regarded as more difficult for children with autism spectrum disorders (ASD) than for children with Down syndrome (DS) or typically developing (TD) children. The current study investigates similarities and differences in observed elicited, spontaneous and deferred imitation using both actions with objects and gestures as imitation tasks in these groups. Imitation among 19 children with autism was compared with 20 children with DS and 23 TD children matched for mental and language age. Elicited imitation resulted in significantly lower scores for the ASD group compared with the other two groups, an effect mainly carried by a low level of gesture imitation among ASD children. We observed no differences among the groups for spontaneous imitation. However, children with ASD or DS displayed less deferred imitation than the TD group. Proneness to imitate also differed among groups: only 10 (53%) of the children with autism responded in the elicited imitation condition compared with all children with DS and almost all TD children (87%). These findings add to our understanding of the kind of imitation difficulties children with ASD might have. They also point to the necessity of not equating various imitation measures because these may capture different processes and be differently motivating for children with autism. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Acute effects of different dynamic exercises on hamstring strain risk factors.

PubMed

Chen, Che Hsiu; Xin, Ye; Lee, Kuang Wu; Lin, Ming Ju; Lin, Jiu Jenq

2018-01-01

The purpose of the study was to examine the acute effects of different dynamic exercise interventions on hamstring muscle performance. Thirty-six young men with poor hamstring flexibility were randomly assigned to three intervention groups: jogging combined with dynamic open kinetic chain stretching (DS), jogging combined with dynamic closed kinetic chain stretching (lunge with eccentric hamstring windmills, LEC), and jogging only (CON) groups. Hamstring flexibility, muscle stiffness (area under the curve, AUC), joint position sense (JPS), maximal eccentric strength (ECC), and angle of peak torque (APT) were recorded before and immediately after the exercise interventions. The results showed that the hamstring flexibility increased in DS (p < 0.001); muscle stiffness decreased in DS and was lower than jogging (p < 0.001). Moreover, ECC increased in LEC and was higher than jogging and DS (p < 0.001). APT was different among 3 groups (p < 0.001). Decreased accuracy of JPS was found in DS and jogging (p < 0.001). In conclusion, the dynamic closed kinetic chain stretching (LEC) as compared to open kinetic chain stretching (DS) or jogging group, may be an effective technique to enhance muscle performance during the pre-competition warm-up routine.

Acute effects of different dynamic exercises on hamstring strain risk factors

PubMed Central

Xin, Ye; Lee, Kuang Wu; Lin, Ming Ju

2018-01-01

The purpose of the study was to examine the acute effects of different dynamic exercise interventions on hamstring muscle performance. Thirty-six young men with poor hamstring flexibility were randomly assigned to three intervention groups: jogging combined with dynamic open kinetic chain stretching (DS), jogging combined with dynamic closed kinetic chain stretching (lunge with eccentric hamstring windmills, LEC), and jogging only (CON) groups. Hamstring flexibility, muscle stiffness (area under the curve, AUC), joint position sense (JPS), maximal eccentric strength (ECC), and angle of peak torque (APT) were recorded before and immediately after the exercise interventions. The results showed that the hamstring flexibility increased in DS (p < 0.001); muscle stiffness decreased in DS and was lower than jogging (p < 0.001). Moreover, ECC increased in LEC and was higher than jogging and DS (p < 0.001). APT was different among 3 groups (p < 0.001). Decreased accuracy of JPS was found in DS and jogging (p < 0.001). In conclusion, the dynamic closed kinetic chain stretching (LEC) as compared to open kinetic chain stretching (DS) or jogging group, may be an effective technique to enhance muscle performance during the pre-competition warm-up routine. PMID:29390001

Outcome of acute lymphoblastic leukemia in children with down syndrome-Polish pediatric leukemia and lymphoma study group report.

PubMed

Zawitkowska, Joanna; Odój, Teresa; Drabko, Katarzyna; Zaucha-Prażmo, Agnieszka; Rudnicka, Julia; Romiszewski, Michał; Matysiak, Michał; Kwiecińska, Kinga; Ćwiklińska, Magdalena; Balwierz, Walentyna; Owoc-Lempach, Joanna; Derwich, Katarzyna; Wachowiak, Jacek; Niedźwiecki, Maciej; Adamkiewicz-Drożyńska, Elżbieta; Trelińska, Joanna; Młynarski, Wojciech; Kołtan, Andrzej; Wysocki, Mariusz; Tomaszewska, Renata; Szczepański, Tomasz; Płonowski, Marcin; Krawczuk-Rybak, Maryna; Ociepa, Tomasz; Urasiński, Tomasz; Mizia-Malarz, Agnieszka; Sobol-Milejska, Grażyna; Karolczyk, Grażyna; Kowalczyk, Jerzy

2017-05-01

Children with Down syndrome (DS) have a 20-fold increased risk of developing leukemia compared with the general population. The aim of the study was to analyze the outcome of patients diagnosed with Down syndrome and acute lymphoblastic leukemia (ALL) in Poland between the years 2003 and 2010. A total of 1848 children were diagnosed with ALL (810 females and 1038 males). Of those, 41 (2.2%) had DS. The children were classified into three risk groups: a standard-risk group-14 patients, an intermediate-risk group-24, a high-risk group-3. All patients were treated according to ALLIC 2002 protocol. The median observation time of all patients was 6.1 years, and in patients with DS 5.3 years. Five-year overall survival (OS) was the same in all patients (86% vs 86%, long-rank test, p = .9). The relapse-free survival (RFS) was calculated as 73% in patients with DS and 81% in patients without DS during a median observation time (long-rank test, p = .3). No statistically significant differences were found in the incidence of nonrelapse mortality between those two groups of patients (p = .72). The study was based on children with ALL and Down syndrome who were treated with an identical therapy schedule as ALL patients without DS, according to risk group. This fact can increase the value of the presented results.

Treatment results in children with myeloid leukemia of Down syndrome in Saudi Arabia: A multicenter SAPHOS leukemia group study.

PubMed

Jastaniah, Wasil; Alsultan, Abdulrahman; Al Daama, Saad; Ballourah, Walid; Bayoumy, Mohammad; Al-Anzi, Faisal; Al Shareef, Omar; Abrar, Mohammed Burhan; Al Sudairy, Reem; Al Ghemlas, Ibrahim

2017-07-01

Despite the high incidence of Down syndrome (DS) in Arab countires, the incidence and outcomes of myeloid leukemia of DS (ML-DS) have not been studied. We evaluated 206 pediatric acute myeloid leukemia (AML) patients diagnosed between 2005 and 2012 and identified 31 (15%) ML-DS. The incidence of ML-DS was 48 per 100,000 compared to 0.6 per 100,000 for AML in non-DS children. Thus, patients with DS had 80-fold increased risk of ML-DS compared to AML in non-DS children. The median age at diagnosis was 1.8 years, male/female ratio was 1.2, majority (84%) of patients had FAB-M7 subtype, and the cytogenetic abnormalities were normal karyotype (constitutional trisomy 21) in 48%, additional trisomy in 23%, and other aberrations in 29%. Complete remission, cumulative incidences of relapse (CIR), toxic-death, and 5-year event-free survival (EFS) rates were 96.8%, 19.4%, 13.1%, and 67.7±8.4%; respectively. In the present study, multivariate analysis revealed favorable outcome (5-year EFS 86.7±8.8%) for patients with normal karyotype. The incidence and clinical characteristics of ML-DS in Saudi patients were comparable to other reports. However, there is a need to optimize risk stratification and treatment intensity to reduce CIR and toxic death rates to further improve outcomes of patients with ML-DS. Copyright © 2017 Elsevier Ltd. All rights reserved.

A small pons as a characteristic finding in Down syndrome: A quantitative MRI study.

PubMed

Fujii, Yuta; Aida, Noriko; Niwa, Tetsu; Enokizono, Mikako; Nozawa, Kumiko; Inoue, Tomio

2017-04-01

Down syndrome (DS) is the most common chromosomal aberration, but the characteristics of the brainstem component in this condition during childhood (from newborn to preteen stages) have not been clarified. To evaluate the morphological features of the brainstem in DS on magnetic resonance imaging (MRI). MRIs for 32 children with DS (16 boys and girls each; age range, 0-11years) without major brain insults, and 32 age-matched controls (16 boys and girls each) were retrospectively analyzed. Height, width, and area of the midbrain, pons, and medulla oblongata were measured on sagittal T1-weighted images; these were compared in children with DS and age-matched controls. The ratios of the brainstem to the size of the posterior fossa (BS/PF index) were calculated; these were also compared in the children with DS and the control group. The width and area of the midbrain; height, width, area of the pons; and area of the medulla oblongata were significantly smaller in children with DS than in control children (P<0.05); the area of the pons, particularly for the ventral part, showed the largest differences in the mean relative differences. The BS/PF indices of the height, width, and area of the pons were significantly smaller in children with DS than in the control group (P<0.01). However, the BS/PF indices for the midbrain and the medulla oblongata did not differ between these two groups. Children with DS may have small brainstems, particularly in the pons; this may be a characteristic morphological feature of the brainstem on MRI in childhood including neonates. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Self-assembling HA/PEI/dsRNA-p21 ternary complexes for CD44 mediated small active RNA delivery to colorectal cancer.

PubMed

Feng, Chen-Lin; Han, Yan-Xing; Guo, Hui-Hui; Ma, Xiao-Lei; Wang, Zhi-Qiang; Wang, Lu-Lu; Zheng, Wen-Sheng; Jiang, Jian-Dong

2017-11-01

Our previous work proved that sequence specific double strand RNA (dsRNA-p21) effectively activated p21 gene expression of colorectal cancer (CRC) cells and consequently suppressed CRC growth. However, efficient delivery system is a significant challenge to achieve sufficient therapy. In this study, a self-assembled HA/PEI/dsRNA-p21 ternary complex (TC-dsRNA-p21) was developed for the tumor-target delivery of dsRNA-p21 into CRC cells. Hyaluronic acid (HA) was introduced to shield the PEI/dsRNA-p21 binary complexes (BC-dsRNA-p21) for reducing the cytotoxicity of PEI and for increasing the tumor-targeted intracellular uptake by cancer cells through HA-CD44 mediated endocytosis. Comparing to the BC-dsRNA-p21, the TC-dsRNA-p21 showed increase in size, decrease in zeta potential, low cytotoxicity as well as high stability in physiological conditions due to the anionic shielding. Confocal microscopy analysis and flow cytometry confirmed that TC-dsRNA-p21 had high transfection efficiency in the CD44-abundant Lovo cells, as compared with binary complex. In vitro physiological experiment showed that, comparing to the control group, the TC-dsRNA-p21 effectively activated the expression of p21 mRNA and P21 protein, causing blockage of cell cycle at G 0 /G 1 phase and suppression of cancer cell proliferation as well as colony formation. Furthermore, in vivo distribution experiment demonstrated that the TC-dsRNA-p21 could effectively accumulate at rectal wall for up to 10 h, following in situ application. These findings indicated that TC-dsRNA-p21 might hold great potential for delivering dsRNA-p21 to treat CRC.

High sensitive detection of double-stranded DNA autoantibodies by a modified Crithidia luciliae immunofluorescence test.

PubMed

Conrad, Karsten; Ittenson, Annelore; Reinhold, Dirk; Fischer, Richard; Roggenbuck, Dirk; Büttner, Thomas; Bosselmann, Hans-Peter; Steinbach, Jörg; Schössler, Werner

2009-09-01

Anti-double-stranded (ds)DNA antibodies are serological markers of systemic lupus erythematosus (SLE). Of all anti-dsDNA antibody detection methods, the Crithidia luciliae immunofluorescence test (CLIFT) is thought to have the highest specificity for SLE. However, the clinical application is hampered by the low diagnostic sensitivity. A CLIFT with modified assay buffer (mCLIFT) was developed and compared with conventional CLIFT, using sera from 110 patients with SLE, 89 anti-dsDNA ELISA-positive patients with other diseases (non-SLE group A), 157 non-SLE patients with undetectable anti-dsDNA antibodies by ELISA (non-SLE group B), 77 disease controls (non-SLE group C), and 50 healthy blood donors. Out of the 110 anti-dsDNA antibody ELISA-positive SLE patients, 84 (76.4%) demonstrated a positive kinetoplast staining, using the mCLIFT, compared to only 42.3%, using the conventional CLIFT. The diagnostic specificity of mCLIFT was 100% with healthy blood donors and 98.1% with the non-SLE group C (anti-nuclear antibodies negative; no signs or symptoms of an autoimmune disease) included. In the non-SLE groups A and B with various other autoimmune diseases or symptoms of a possible autoimmune disease, positive mCLIFT results were obtained in 33.7% and 3.2%, respectively. In conclusion, by modification of the assay buffer, a significant increase in sensitivity of the CLIFT could be observed while retaining the high specificity for SLE. Further investigation is required to check whether the CLIFT-positive non-SLE patients develop SLE and whether anti-dsDNA antibodies detected by the mCLIFT represent a pathogenetic and diagnostic subgroup of autoantibodies that may improve the early diagnosis of SLE or SLE-overlap syndromes.

Protective effect of dammarane sapogenins against chemotherapy-induced myelosuppression in mice.

PubMed

Yang, Yanyan; Xu, Shuping; Xu, Qiuxia; Liu, Xinmin; Gao, Yue; Steinmetz, Andre; Wang, Ning; Wang, Tianshan; Qiu, Guosong

2011-06-01

Chemotherapy is the most common way to treat malignancies, but myelosuppression, one of its common side-effects, is a formidable problem. The present study described the protective role of dammarane sapogenins (DS), an active fraction from oriental ginseng, on myelosuppression induced by cyclophosphamide (CP) in mice. DS was orally administered at different dosages (37.5, 75, and 150 mg/kg) for 10 d after CP administration (200 mg/kg intraperitoneally). The results showed that DS increased the number of white blood cells (WBC) on day 3 and day 7 (P < 0.05), such that WBC levels were increased by 105.7 ± 29.5% at 75 mg/kg of DS on day 3 (P < 0.05, compared with the CP group). Similar results were observed in red blood cells and platelets in DS-treated groups. The colony-forming assay demonstrated that the depressed numbers of CFU-GM (colony-forming unit-granulocyte and macrophage), CFU-E (colony-forming unit-erythroid), BFU-E (burst-forming unit-erythroid), CFU-Meg (colony-forming unit-megakaryocyte) and CFU-GEMM (colony-forming unit-granulocyte, -erythrocyte, -monocyte and -megakaryocyte) induced by CP were significantly reversed after DS treatment. Moreover, the ameliorative effect of DS on myelosuppression was also observed in the femur by hematoxylin/eosin staining. In DS-treated groups, ConA-induced splenocyte proliferation was enhanced significantly at all the doses (37.5, 75, 150 mg/kg) on day 3 at the rate of 50.3 ± 8.0%, 77.6 ± 8.5% and 44.5 ± 8.4%, respectively, while lipopolysaccharide-induced proliferation was increased mainly on day 7 (P < 0.01), with an increased rate of 39.8 ± 5.6%, 34.9 ± 6.6% and 38.3 ± 7.3%, respectively. The thymus index was also markedly increased by 70.4% and 36.6% at 75 mg/kg on days 3 and 7, respectively, as compared with the CP group. In summary, DS has a protective function against CP-induced myelosuppression. Its mechanism might be related to stimulating hematopoiesis recovery, as well as enhancing the immunological function.

Fibrin matrices with affinity-based delivery systems and neurotrophic factors promote functional nerve regeneration.

PubMed

Wood, Matthew D; MacEwan, Matthew R; French, Alexander R; Moore, Amy M; Hunter, Daniel A; Mackinnon, Susan E; Moran, Daniel W; Borschel, Gregory H; Sakiyama-Elbert, Shelly E

2010-08-15

Glial-derived neurotrophic factor (GDNF) and nerve growth factor (NGF) have both been shown to enhance peripheral nerve regeneration following injury and target different neuronal populations. The delivery of either growth factor at the site of injury may, therefore, result in quantitative differences in motor nerve regeneration and functional recovery. In this study we evaluated the effect of affinity-based delivery of GDNF or NGF from fibrin-filled nerve guidance conduits (NGCs) on motor nerve regeneration and functional recovery in a 13 mm rat sciatic nerve defect. Seven experimental groups were evaluated consisting of GDNF or NGF and the affinity-based delivery system (DS) within NGCs, control groups excluding the DS and/or growth factor, and nerve isografts. Groups with growth factor in the conduit demonstrated equivalent or superior performance in behavioral tests and relative muscle mass measurements compared to isografts at 12 weeks. Additionally, groups with GDNF demonstrated greater specific twitch and tetanic force production in extensor digitorum longus (EDL) muscle than the isograft control, while groups with NGF produced demonstrated similar force production compared to the isograft control. Assessment of motor axon regeneration by retrograde labeling further revealed that the number of ventral horn neurons regenerating across NGCs containing GDNF and NGF DS was similar to the isograft group and these counts were greater than the groups without growth factor. Overall, the GDNF DS group demonstrated superior functional recovery and equivalent motor nerve regeneration compared to the isograft control, suggesting it has potential as a treatment for motor nerve injury.

Predictive Value of CHA2DS2-VASC Score for Contrast-Induced Nephropathy After Percutaneous Coronary Intervention for Acute Coronary Syndrome.

PubMed

Kurtul, Alparslan; Yarlioglues, Mikail; Duran, Mustafa

2017-03-15

The CHA2DS2-VASC score, used for embolic risk stratification in atrial fibrillation (AF), has been reported recently to predict adverse clinical outcomes in patients with acute coronary syndrome (ACS), regardless of having AF. We investigated the correlation between the CHA2DS2-VASC score and contrast-induced nephropathy (CIN) in patients with ACS who underwent urgent percutaneous coronary intervention (PCI). A total of 1,408 patients were enrolled in the study. The CHA2DS2-VASC score was calculated for each patient. Based on the receiver operating characteristic analysis, the study population was divided into 2 groups: CHA2DS2-VASC score ≤3 group (n = 944) and CHA2DS2-VASC score ≥4 group (n = 464). Patients were then reallocated to 2 groups according to the presence or absence of CIN. CIN was defined as a rise in serum creatinine >0.5 mg/dl or >25% increase in baseline within 72 hours after PCI. Overall, 159 cases (11.3%) of CIN were diagnosed. Receiver operating characteristic curve analysis revealed good diagnostic value of CHA2DS2-VASC score in predicting CIN (area under the curve 0.769, 95% confidence interval 0.733 to 0.805; p <0.001). When patients with a CHA2DS2-VASC score of ≥4 were compared with those with a CHA2DS2-VASC score of ≤3, patients with high score had a higher frequency of CIN (23.9% vs 5.1%; p <0.001), and multivariate analysis identified the CHA2DS2-VASC score of ≥4 as an independent predictor of CIN. In conclusion, CHA2DS2-VASC score can be used as a new, simple, and reliable tool to predict CIN in patients with ACS who underwent urgent PCI. Copyright © 2016 Elsevier Inc. All rights reserved.

A cross-sectional study of the development of volitional control of spatial attention in children with chromosome 22q11.2 deletion syndrome

PubMed Central

2012-01-01

Background Chromosome 22q11.2 deletion syndrome (22q11.2DS) results from a 1.5- to 3-megabase deletion on the long arm of chromosome 22 and occurs in approximately 1 in 4000 live births. Previous studies indicate that children with 22q11.2DS are impaired on tasks involving spatial attention. However, the degree to which these impairments are due to volitionally generated (endogenous) or reflexive (exogenous) orienting of attention is unclear. Additionally, the efficacy of these component attention processes throughout child development in 22q11.2DS has yet to be examined. Methods Here we compared the performance of a wide age range (7 to 14 years) of children with 22q11.2DS to typically developing (TD) children on a comprehensive visual cueing paradigm to dissociate the contributions of endogenous and exogenous attentional impairments. Paired and two-sample t-tests were used to compare outcome measures within a group or between groups. Additionally, repeated measures regression models were fit to the data in order to examine effects of age on performance. Results We found that children with 22q11.2DS were impaired on a cueing task with an endogenous cue, but not on the same task with an exogenous cue. Additionally, it was younger children exclusively who were impaired on endogenous cueing when compared to age-matched TD children. Older children with 22q11.2DS performed comparably to age-matched TD peers on the endogenous cueing task. Conclusions These results suggest that endogenous but not exogenous orienting of attention is selectively impaired in children with 22q11.2DS. Additionally, the age effect on cueing in children with 22q11.2DS suggests a possible altered developmental trajectory of endogenous cueing. PMID:22958432

Autonomic and subjective responsivity to emotional images in people with dissociative seizures.

PubMed

Pick, Susannah; Mellers, John D C; Goldstein, Laura H

2018-06-01

People with dissociative seizures (DS) report a range of difficulties in emotional functioning and exhibit altered responding to emotional facial expressions in experimental tasks. We extended this research by investigating subjective and autonomic reactivity (ratings of emotional valence, arousal and skin conductance responses [SCRs]) to general emotional images in 39 people with DS relative to 42 healthy control participants, whilst controlling for anxiety, depression, cognitive functioning and, where relevant, medication use. It was predicted that greater subjective negativity and arousal and increased SCRs in response to the affective pictures would be observed in the DS group. The DS group as a whole did not differ from controls in their subjective responses of valence and arousal. However, SCR amplitudes were greater in 'autonomic responders' with DS relative to 'autonomic responders' in the control group. A positive correlation was also observed between SCRs for highly arousing negative pictures and self-reported ictal autonomic arousal, in DS 'autonomic responders'. In the DS subgroup of autonomic 'non-responders', differences in subjective responses were observed for some conditions, compared to control 'non-responders'. The findings indicate unaffected subjective responses to emotional images in people with DS overall. However, within the group of people with DS, there may be subgroups characterized by differences in emotional responding. One subgroup (i.e., 'autonomic responders') exhibit heightened autonomic responses but intact subjective emotional experience, whilst another subgroup (i.e., 'autonomic non-responders') seem to experience greater subjective negativity and arousal for some emotional stimuli, despite less frequent autonomic reactions. The current results suggest that therapeutic interventions targeting awareness and regulation of physiological arousal and subjective emotional experience could be of value in some people with this disorder. © 2017 The Authors. Journal of Neuropsychology published by John Wiley & Sons Ltd on behalf of British Psychological Society.

Effects of drop set resistance training on acute stress indicators and long-term muscle hypertrophy and strength.

PubMed

Fink, Julius; Schoenfeld, Brad J; Kikuchi, Naoki; Nakazato, Koichi

2018-05-01

We investigated the effects of 2 different resistance training (RT) protocols on muscle hypertrophy and strength. The first group (N.=8) performed a single drop set (DS) and the second group (N.=8) performed 3 sets of conventional RT (normal set, NS). Eight young men in each group completed 6 weeks of RT. Muscle hypertrophy was assessed via magnetic resonance imaging (MRI) and strength via 12 repetition maximum tests before and after the 6 weeks. Acute stress markers such as muscle thickness (MT), blood lactate (BL), maximal voluntary contraction (MVC), heart rate (HR) and rating of perceived exertion (RPE) have been measured before and after one bout of RT. Both groups showed significant increases in triceps muscle cross-sectional area (CSA) (10.0±3.7%, effect size (ES) =0.47 for DS and 5.1±2.1%, ES=0.25 for NS). Strength increased in both groups (16.1±12.1%, ES=0.88 for DS and 25.2±17.5%, ES=1.34 for NS). Acute pre/post measurements for one bout of RT showed significant changes in MT (18.3±5.8%, P<0.001) and MVC (-13.3±7.1, P<0.05) in the DS group only and a significant difference (P<0.01) in RPE was observed between groups (7.7±1.5 for DS and 5.3±1.4 for NS). Superior muscle gains might be achieved with a single set of DS compared to 3 sets of conventional RT, probably due to higher stress experienced in the DS protocol.

Suppression of mTOR signaling pathway promotes bone marrow mesenchymal stem cells differentiation into osteoblast in degenerative scoliosis: in vivo and in vitro.

PubMed

Wang, Yu; Yi, Xiao-Dong; Li, Chun-De

2017-02-01

To investigate the role of mTOR signaling pathway in bone marrow mesenchymal stem cells (BMSCs) differentiation into osteoblast in degenerative scoliosis (DS). The rat model of DS was established. Thirty-two Sprague-Dawley (SD) rats were selected and divided into the normal control group, the positive control group (normal rats injected with rapamycin), the negative control group (DS rats injected with PBS) and the experiment group (DS rats injected with rapamycin). H&E staining was performed to observe the osteogenesis of scoliosis. The BMSCs were obtained and assigned into seven groups: the normal control group, the positive control group, the negative control group and 1.0/10.0/100.0/1000.0 nmol/L experiment groups. Flow cytometry was conducted to testify cell cycle. The mRNA and protein expressions of mTOR and osteoblastic differentiation markers were measured by qRT-PCR and western blotting. In vivo, compared with the negative control group, bone trabecular area and the number of differentiated bone cells were significantly increased in the experiment groups. In vitro, at 24 and 48 h after rapamycin treatment, compared with the negative control group, BMSCs at G0/G1 stage increased, but BMSCs at S stage decreased in the 1.0/10.0/100.0/1000.0 nmol/L experiment groups; the expressions of mTOR and p70-S6K1 proteins were reduced in the 1.0/10.0/100.0/1000.0 nmol/L experiment groups, while ALP activity, OC levels, calcium deposition, Co1-I protein expression and the mRNA expressions of OC and Co1-I were significantly increased. Suppression of mTOR signaling pathway by rapamycin could promote BMSCs differentiation into osteoblast in DS.

Bone Mineral Density in Adults With Down Syndrome, Intellectual Disability, and Nondisabled Adults

ERIC Educational Resources Information Center

Geijer, Justin R.; Stanish, Heidi I.; Draheim, Christopher C.; Dengel, Donald R.

2014-01-01

Individuals with intellectual disability (ID) or Down syndrome (DS) may be at greater risk of osteoporosis. The purpose of this study was to compare bone mineral density (BMD) of DS, ID, and non-intellectually disabled (NID) populations. In each group, 33 participants between the ages of 28 and 60 years were compared. BMD was measured with…

More on the Effects of Early Manual Communication on the Cognitive Development of Deaf Children.

ERIC Educational Resources Information Center

Zwiebel, Abraham

1987-01-01

A study compared intelligence scores of three groups of Israeli deaf children--23 with deaf parents/deaf siblings and manual communication (DpDs), 76 with hearing parents/deaf siblings, and 144 with hearing parents and siblings. The DpDs children were superior to other deaf children and comparable to hearing children on most intelligence measures.…

Longitudinal Profiles of Expressive Vocabulary, Syntax, and Pragmatic Language in Boys with Fragile X Syndrome or Down Syndrome

PubMed Central

Martin, Gary E.; Losh, Molly; Estigarribia, Bruno; Sideris, John; Roberts, Joanne

2014-01-01

Background Fragile X syndrome (FXS) and Down syndrome (DS) are the two leading genetic causes of intellectual disability, and FXS is the most common known genetic condition associated with autism. Both FXS and DS are associated with significant language impairment, but little is known about expressive language across domains over time or the role of autism in language development in FXS. Aims To compare three domains of language production (vocabulary, syntax, and pragmatics) over time within and across groups of boys with FXS with and without autism spectrum disorder (FXS-ASD, FXS-O), boys with DS, and typically developing (TD) boys. Methods & Procedures Twenty-nine boys with FXS-O, 40 boys with FXS-ASD, 34 boys with DS, and 48 younger TD boys of similar nonverbal mental age living in the United States participated. The Antonyms, Syntax Construction, and Pragmatic Judgment subtests of the Comprehensive Assessment of Spoken Language were administered annually over three years. Outcomes & Results TD boys scored higher than all other groups on all three subtests, boys with FXS-O and FXS-ASD scored higher than boys with DS in Syntax Construction, and boys with FXS-O scored higher than boys with FXS-ASD in Pragmatic Judgment. Within-group patterns varied between groups. Overall the TD group showed significantly more change over time than all other groups. Conclusions & Implications Findings suggest that expressive language skills and growth across various domains are more impaired in boys with FXS and DS than would be expected based on nonverbal mental age, that for boys with DS syntax is more impaired than would be expected based on intellectual disability, and that autism status affects pragmatic language in boys with FXS. Findings suggest that language production across domains should be addressed during assessment and intervention for boys with FXS and boys with DS, with differing group profiles also suggesting potentially different areas of focus. PMID:23889838

Health care needs of children with Down syndrome and impact of health system performance on children and their families.

PubMed

Phelps, Randall A; Pinter, Joseph D; Lollar, Donald J; Medlen, Joan Guthrie; Bethell, Christina D

2012-04-01

The functional, financial, and social impact on families of children with Down syndrome (DS) in the United States and the role of the US health care system in ameliorating these impacts have not been well characterized. We sought to describe the demographic characteristics and functional difficulties of these children and to determine whether children with DS, compared with children with "intellectual disability" (ID) generally, and compared with other "children and youth with special health care needs" (CYSHCN), are more or less likely to receive health care that meets quality standards related to care coordination and to have their health care service needs met. This study analyzed data from the 2005-2006 National Survey of Children with Special Health Care Needs (n = 40,723). Children and youth aged 0 to 17 years with special health care need (CYSHCN) who experience DS (n = 395) and/or IDs (n = 4252) were compared with each other and other CYSHCN on a range of functioning, family impact, and health care quality variables using bivariate and multivariate methods. Data were weighted to represent all CYSHCN in the United States. Compared with CYSHCN without DS, children with DS were significantly less likely to receive comprehensive care within a medical home (29.7% vs 47.3%; p < .001). Parents of children with DS were also significantly more likely to cut back or stop work due to their child's health needs (23.5% vs 55.1%; p < .001). Although overall system performance was poorer for children with DS compared with those with ID and no DS after adjustment for family income, prevalence on most aspects of quality of care and family impacts evaluated were similar for these 2 groups. In this study, the families of children with DS, and ID generally, are burdened disproportionately when compared with other CYSHCN, reflecting the combination of impairments intrinsic to DS and ID and impacts of suboptimal medical care coordination and social support.

22q11.2 deletion syndrome in diverse populations.

PubMed

Kruszka, Paul; Addissie, Yonit A; McGinn, Daniel E; Porras, Antonio R; Biggs, Elijah; Share, Matthew; Crowley, T Blaine; Chung, Brian H Y; Mok, Gary T K; Mak, Christopher C Y; Muthukumarasamy, Premala; Thong, Meow-Keong; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Prabodha, L B Lahiru; Mishra, Rupesh; Shotelersuk, Vorasuk; Ekure, Ekanem Nsikak; Sokunbi, Ogochukwu Jidechukwu; Kalu, Nnenna; Ferreira, Carlos R; Duncan, Jordann-Mishael; Patil, Siddaramappa Jagdish; Jones, Kelly L; Kaplan, Julie D; Abdul-Rahman, Omar A; Uwineza, Annette; Mutesa, Leon; Moresco, Angélica; Obregon, María Gabriela; Richieri-Costa, Antonio; Gil-da-Silva-Lopes, Vera L; Adeyemo, Adebowale A; Summar, Marshall; Zackai, Elaine H; McDonald-McGinn, Donna M; Linguraru, Marius George; Muenke, Maximilian

2017-04-01

22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P < 0.05). However, when Africans were removed from analysis, six additional clinical features were found to be independent of ethnicity (P ≥ 0.05). Using facial analysis technology, we compared 156 Caucasians, Africans, Asians, and Latin American individuals with 22q11.2 DS with 156 age and gender matched controls and found that sensitivity and specificity were greater than 96% for all populations. In summary, we present the varied findings from global populations with 22q11.2 DS and demonstrate how facial analysis technology can assist clinicians in making accurate 22q11.2 DS diagnoses. This work will assist in earlier detection and in increasing recognition of 22q11.2 DS throughout the world. © 2017 Wiley Periodicals, Inc.

Characterization of premorbid functioning during childhood in patients with deficit vs. non-deficit schizophrenia and in their healthy siblings.

PubMed

Bucci, Paola; Mucci, Armida; Piegari, Giuseppe; Nobile, Maria; Pini, Stefano; Rossi, Alessandro; Vita, Antonio; Galderisi, Silvana; Maj, Mario

2016-07-01

Impaired premorbid adjustment has been reported in patients with schizophrenia, generally in association with unfavorable aspects of the illness (e.g., poor outcome and severe negative symptoms). Several studies attempted to define the domains of premorbid dysfunction associated with negative symptoms and poor outcome; however, most of them assessed broadly defined negative symptoms. The present study was aimed to characterize premorbid functioning in a group of patients with deficit schizophrenia (DS), characterized by the presence of at least two primary and persistent negative symptoms (PPNS), and one of patients with a diagnosis of schizophrenia who did not meet criteria for DS (NDS). The presence of emotional/behavioral problems during childhood was investigated using the Childhood Behavior Checklist (CBCL) in both patient groups and in their respective healthy siblings. The Premorbid Adjustment Scale (PAS) was also used to assess premorbid functioning during childhood in the two patient groups. PPNS were also treated as a continuous variable and correlated with the indices of premorbid functioning regardless the DS/NDS categorization. DS patients, as compared to NDS, showed higher scores on the CBCL subscale "Withdrawn". Both DS and NDS patients showed, as compared to their healthy siblings, a greater impairment on almost all CBCL subscales. PAS findings revealed that DS patients had poorer premorbid adjustment than NDS. No significant correlation between premorbid functioning and PPNS was observed. These findings support the hypothesis that DS has a different developmental trajectory with respect to NDS, and that premorbid adjustment is one of the essential aspects of its characterization. Copyright © 2016 Elsevier B.V. All rights reserved.

Unique insula subregion resting-state functional connectivity with amygdala complexes in posttraumatic stress disorder and its dissociative subtype.

PubMed

Nicholson, Andrew A; Sapru, Iman; Densmore, Maria; Frewen, Paul A; Neufeld, Richard W J; Théberge, Jean; McKinnon, Margaret C; Lanius, Ruth A

2016-04-30

The insula and amygdala are implicated in the pathophysiology of posttraumatic stress disorder (PTSD), where both have been shown to be hyper/hypoactive in non-dissociative (PTSD-DS) and dissociative subtype (PTSD+DS) PTSD patients, respectively, during symptom provocation. However, the functional connectivity between individual insula subregions and the amygdala has not been investigated in persons with PTSD, with or without the dissociative subtype. We examined insula subregion (anterior, mid, and posterior) functional connectivity with the bilateral amygdala using a region-of-interest seed-based approach via PickAtlas and SPM8. Resting-state fMRI was conducted with (n=61) PTSD patients (n=44 PTSD-DS; n=17 PTSD+DS), and (n=40) age-matched healthy controls. When compared to controls, the PTSD-DS group displayed increased insula connectivity (bilateral anterior, bilateral mid, and left posterior) to basolateral amygdala clusters in both hemispheres, and the PTSD+DS group displayed increased insula connectivity (bilateral anterior, left mid, and left posterior) to the left basolateral amygdala complex. Moreover, as compared to PTSD-DS, increased insula subregion connectivity (bilateral anterior, left mid, and right posterior) to the left basolateral amygdala was found in PTSD+DS. Depersonalization/derealization symptoms and PTSD symptom severity correlated with insula subregion connectivity to the basolateral amygdala within PTSD patients. This study is an important first step in elucidating patterns of neural connectivity associated with unique symptoms of arousal/interoception, emotional processing, and awareness of bodily states, in PTSD and its dissociative subtype. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Visual scanpath abnormalities in 22q11.2 deletion syndrome: is this a face specific deficit?

PubMed

McCabe, Kathryn; Rich, Dominique; Loughland, Carmel Maree; Schall, Ulrich; Campbell, Linda Elisabet

2011-09-30

People with 22q11.2 deletion syndrome (22q11DS) have deficits in face emotion recognition. However, it is not known whether this is a deficit specific to faces, or represents maladaptive information processing strategies to complex stimuli in general. This study examined the specificity of face emotion processing deficits in 22q11DS by exploring recognition accuracy and visual scanpath performance to a Faces task compared to a Weather Scene task. Seventeen adolescents with 22q11DS (11=females, age=17.4) and 18 healthy controls (11=females, age=17.7) participated in the study. People with 22q11DS displayed an overall impoverished scanning strategy to face and weather stimuli alike, resulting in poorer accuracy across all stimuli for the 22q11DS participants compared to controls. While the control subjects altered their information processing in response to faces, a similar change was not present in the 22q11DS group indicating different visual scanpath strategies to identify category within each of the tasks, of which faces appear to represent a particularly difficult subcategory. To conclude, while this study indicates that people with 22q11DS have a general visual processing deficit, the lack of strategic change between tasks suggest that the 22q11DS group did not adapt to the change in stimuli content as well as the controls, indicative of cognitive inflexibility rather than a face specific deficit. Copyright © 2011 Elsevier Ltd. All rights reserved.

Resting-State Functional Connectivity in Individuals with Down Syndrome and Williams Syndrome Compared with Typically Developing Controls.

PubMed

Vega, Jennifer N; Hohman, Timothy J; Pryweller, Jennifer R; Dykens, Elisabeth M; Thornton-Wells, Tricia A

2015-10-01

The emergence of resting-state functional connectivity (rsFC) analysis, which examines temporal correlations of low-frequency (<0.1 Hz) blood oxygen level-dependent signal fluctuations between brain regions, has dramatically improved our understanding of the functional architecture of the typically developing (TD) human brain. This study examined rsFC in Down syndrome (DS) compared with another neurodevelopmental disorder, Williams syndrome (WS), and TD. Ten subjects with DS, 18 subjects with WS, and 40 subjects with TD each participated in a 3-Tesla MRI scan. We tested for group differences (DS vs. TD, DS vs. WS, and WS vs. TD) in between- and within-network rsFC connectivity for seven functional networks. For the DS group, we also examined associations between rsFC and other cognitive and genetic risk factors. In DS compared with TD, we observed higher levels of between-network connectivity in 6 out 21 network pairs but no differences in within-network connectivity. Participants with WS showed lower levels of within-network connectivity and no significant differences in between-network connectivity relative to DS. Finally, our comparison between WS and TD controls revealed lower within-network connectivity in multiple networks and higher between-network connectivity in one network pair relative to TD controls. While preliminary due to modest sample sizes, our findings suggest a global difference in between-network connectivity in individuals with neurodevelopmental disorders compared with controls and that such a difference is exacerbated across many brain regions in DS. However, this alteration in DS does not appear to extend to within-network connections, and therefore, the altered between-network connectivity must be interpreted within the framework of an intact intra-network pattern of activity. In contrast, WS shows markedly lower levels of within-network connectivity in the default mode network and somatomotor network relative to controls. These findings warrant further investigation using a task-based procedure that may help disentangle the relationship between brain function and cognitive performance across the spectrum of neurodevelopmental disorders.

Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

PubMed Central

2014-01-01

Background Children with Down syndrome (DS) have an increased risk for acute lymphoblastic leukemia (ALL). Although previous studies have shown that DS-ALL differs clinically and genetically from non-DS-ALL, much remains to be elucidated as regards genetic and prognostic factors in DS-ALL. Methods To address clinical and genetic differences between DS-ALL and non-DS-ALL and to identify prognostic factors in DS-ALL, we ascertained and reviewed all 128 pediatric DS-ALL diagnosed in the Nordic countries between 1981 and 2010. Their clinical and genetic features were compared with those of the 4,647 B-cell precursor (BCP) ALL cases diagnosed during the same time period. Results All 128 DS-ALL were BCP ALL, comprising 2.7% of all such cases. The 5-year event-free survival (EFS) and overall survival (OS) were significantly (P = 0.026 and P = 0.003, respectively) worse for DS-ALL patients with white blood cell counts ≥50 × 109/l. The age distributions varied between the DS and non-DS cases, with age peaks at 2 and 3 years, respectively; none of the DS patients had infant ALL (P = 0.029). The platelet counts were lower in the DS-ALL group (P = 0.005). Abnormal karyotypes were more common in non-DS-ALL (P < 0.0001), and there was a significant difference in the modal number distribution, with only 2% high hyperdiploid DS-ALL cases (P < 0.0001). The 5-year EFS and 5-year OS were significantly worse for DS-ALL (0.574 and 0.691, respectively) compared with non-DS-ALL (0.783 and 0.894, respectively) in the NOPHO ALL-1992/2000 protocols (P < 0.001). Conclusions The present study adds further support for genetic and clinical differences between DS-ALL and non-DS-ALL. PMID:24726034

RNA-seq Analysis Reveals Unique Transcriptome Signatures in Systemic Lupus Erythematosus Patients with Distinct Autoantibody Specificities

PubMed Central

Rai, Richa; Chauhan, Sudhir Kumar; Singh, Vikas Vikram; Rai, Madhukar; Rai, Geeta

2016-01-01

Systemic lupus erythematosus (SLE) patients exhibit immense heterogeneity which is challenging from the diagnostic perspective. Emerging high throughput sequencing technologies have been proved to be a useful platform to understand the complex and dynamic disease processes. SLE patients categorised based on autoantibody specificities are reported to have differential immuno-regulatory mechanisms. Therefore, we performed RNA-seq analysis to identify transcriptomics of SLE patients with distinguished autoantibody specificities. The SLE patients were segregated into three subsets based on the type of autoantibodies present in their sera (anti-dsDNA+ group with anti-dsDNA autoantibody alone; anti-ENA+ group having autoantibodies against extractable nuclear antigens (ENA) only, and anti-dsDNA+ENA+ group having autoantibodies to both dsDNA and ENA). Global transcriptome profiling for each SLE patients subsets was performed using Illumina® Hiseq-2000 platform. The biological relevance of dysregulated transcripts in each SLE subsets was assessed by ingenuity pathway analysis (IPA) software. We observed that dysregulation in the transcriptome expression pattern was clearly distinct in each SLE patients subsets. IPA analysis of transcripts uniquely expressed in different SLE groups revealed specific biological pathways to be affected in each SLE subsets. Multiple cytokine signaling pathways were specifically dysregulated in anti-dsDNA+ patients whereas Interferon signaling was predominantly dysregulated in anti-ENA+ patients. In anti-dsDNA+ENA+ patients regulation of actin based motility by Rho pathway was significantly affected. The granulocyte gene signature was a common feature to all SLE subsets; however, anti-dsDNA+ group showed relatively predominant expression of these genes. Dysregulation of Plasma cell related transcripts were higher in anti-dsDNA+ and anti-ENA+ patients as compared to anti-dsDNA+ ENA+. Association of specific canonical pathways with the uniquely expressed transcripts in each SLE subgroup indicates that specific immunological disease mechanisms are operative in distinct SLE patients’ subsets. This ‘sub-grouping’ approach could further be useful for clinical evaluation of SLE patients and devising targeted therapeutics. PMID:27835693

Fixed multibracket dental therapy has challenges but can be successfully performed in young persons with Down syndrome.

PubMed

Abeleira, María Teresa; Pazos, Elisabeth; Limeres, Jacobo; Outumuro, Mercedes; Diniz, Márcio; Diz, Pedro

2016-07-01

Purpose The objective of this study was to analyze the feasibility of orthodontic treatment with fixed multibracket dental appliances (FMAs) in patients with Down syndrome (DS). Methods The study sample was formed of 25 patients with DS who underwent orthodontic treatment with FMAs. Dental and skeletal characteristics, aspects of FMA treatment, retainer use and recurrences were analyzed. Results were compared with a control group of healthy, age-, sex- and PAR index-matched individuals. Results All the controls underwent a single desensitization session, whereas 2-3 sessions were necessary in 11 patients with DS (p < 0.001). All the controls underwent bimaxillary treatment, compared with 11 patients with DS (p < 0.001). Only 8 patients with DS wore intermaxillary elastics, compared with 19 controls (p = 0.004). Complications were more common in patients with DS than in controls (p = 0.003), due particularly to traumatic ulcers development. There were more failures during the maintenance phase in patients with DS than in controls (p = 0.001). The mean duration of treatment was 37 months in patients with DS and 23 months in controls. More cemented retainers were used in the controls than in patients with DS (p = 0.050). Conclusions It is possible to perform orthodontic treatment with FMAs in patients with DS, although treatment may take longer than usual and the frequency of complications is higher than in controls. Implications for Rehabilitation Certain dental characteristics of Down syndrome (DS) make these children firm candidates for orthodontic intervention. There is little literature available on orthodontic treatment in patients with DS, particularly with regard to the use of fixed appliances. This case-control study shows that it is possible to perform orthodontic treatment with fixed appliances in adequately selected patients with DS. However, in patients with DS orthodontic treatment may take longer than usual and the frequency of complications is higher than in the general population.

Social reasoning skills in adults with Down syndrome: the role of language, executive functions and socio-emotional behaviour.

PubMed

Hippolyte, L; Iglesias, K; Van der Linden, M; Barisnikov, K

2010-08-01

Although the prevalence of mental illness and behaviour problems is lower in adults with Down syndrome (DS) than in other populations with intellectual disabilities, they do present emotional and relational problems, as well as social integration difficulties. However, studies reporting on specific competences known to be central in developing appropriate social relationships (e.g. social reasoning, emotion processing, theory of mind) remain rare in the adult DS population and the mechanisms underlying these people's emotional and relational difficulties are unclear. The present study investigated the ability to understand the appropriateness of others' social behaviour in 34 adults with DS, using the Social Resolution Task (SRT). Their results were compared with those of 34 typically developing (TD) children matched for gender and receptive vocabulary. The relationships among the SRT experimental task, cognitive competences (receptive and productive vocabulary, non-verbal reasoning, inhibition, selective attention) and a caregiver-rated measure of socio-emotional behaviour were examined in the DS group. The DS participants' global SRT scores did not differ from those of the controls. However, analyses of the SRT subscores revealed that the DS group identified significantly fewer inappropriate situations than the control group. Nevertheless, when they correctly identified the behaviour as inappropriate, they were as well as the controls to explain the rules underlying their responses. Regression analyses showed that receptive vocabulary and selective attention and a specific dimension of the socio-emotional profile (social relating skills) constituted the best predictors of the DS adults' performance on the SRT. The main findings show that the DS participants demonstrate relatively good social reasoning skills in comparison with TD children matched for verbal age. However, the two groups present distinctions in their response patterns, and the influence of cognitive variables on success on the SRT also appears different. While selective attention skills are found to be significant predictors for both groups, the influence of receptive vocabulary level is much stronger in the DS group. The implications of particular cognitive and socio-emotional factors for success on the SRT in this group are considered in more detail.

The influence of the different forms of appendix base closure on patient outcome in laparoscopic appendectomy: a randomized trial.

PubMed

Delibegović, Samir; Mehmedovic, Zlatan

2018-05-01

During laparoscopic appendectomy, the base of the appendix is usually secured by loop ligature or stapling device. Hem-o-lok and DS clips have been shown as alternative techniques. The aim of this study was to compare the clinical outcomes of various forms of securing the base of the appendix, in order to find the most suitable method. The study included 120 patients with acute appendicitis randomly divided into four groups with 30 patients in each. In the first group, the base of the appendix was secured using an Endoloop, in the second group using a stapling device, in the third group using Hem-o-lok, and in the fourth group using a DS clip. The primary outcome was overall morbidity following securing the base of the appendix. Secondary outcomes were time of application and operative procedure, total length of stay, and surgical outcome. No morbidity was recorded in any group. The time of application was significantly longer in the Endoloop group than in the Stapler (P < 0.0001), Hem-o-lok (P < 0.0001), and DS clips (P < 0.0001) groups. The time of application in the Stapler group was significantly shorter than in the Hem-o-lok (P < 0.0001) and the DS clips (P < 0.0001) groups. The time of the operative procedure was significantly longer in the Endoloop than in the Stapler group (P < 0.0001). The time of the operative procedure in the Stapler group was significantly shorter than in the DS clips group (P < 0.0001) but did not differ significantly from the Hem-o-lok group (P = 0.199). The time of the operative procedure in the Hem-o-lok group was significantly shorter than in the DS clips group (P = 0.044). All forms of closure of the appendix base are acceptable, but Hem-o-lok and DS clips have the best potential for further development, and will probably become the method of choice in securing the base of the appendix.

Purification and sequence characterization of chondroitin sulfate and dermatan sulfate from fishes.

PubMed

Lin, Na; Mo, Xiaoli; Yang, Yang; Zhang, Hong

2017-04-01

Chondroitin sulfate (CS) and dermatan sulfate (DS) were extracted and purified from skins or bones of salmon (Salmo salar), snakehead (Channa argus), monkfish (Lophius litulon) and skipjack tuna (Katsuwonus pelamis). Size, structural sequences and sulfate groups of oligosaccharides in the purified CS and DS could be characterized and identified using high performance liquid chromatography (HPLC) combined with Orbitrap mass spectrometry. CS and DS chain structure varies depending on origin, but motif structure appears consistent. Structures of CS and DS oligosaccharides with different size and sulfate groups were compared between fishes and other animals, and results showed that some minor differences of special structures could be identified by hydrophilic interaction chromatography-liquid chromatography-fourier transform-mass/mass spectrometry (HILIC-LC-FT-MS/MS). For example, data showed that salmon and skipjack CS had a higher percentage content of high-level sulfated oligosaccharides than that porcine CS. In addition, structural information of different origins of CS and DS was analyzed by principal component analysis (PCA) and results showed that CS and DS samples could be differentiated according to their molecular conformation and oligosaccharide fragments information. Understanding CS and DS structure derived from different origins may lead to the production of CS or DS with unique disaccharides or oligosaccharides sequence composition and biological functions.

Vocal interaction between children with Down syndrome and their parents.

PubMed

Thiemann-Bourque, Kathy S; Warren, Steven F; Brady, Nancy; Gilkerson, Jill; Richards, Jeffrey A

2014-08-01

The purpose of this study was to describe differences in parent input and child vocal behaviors of children with Down syndrome (DS) compared with typically developing (TD) children. The goals were to describe the language learning environments at distinctly different ages in early childhood. Nine children with DS and 9 age-matched TD children participated; 4 children in each group were ages 9-11 months, and 5 were between 25 and 54 months. Measures were derived from automated vocal analysis. A digital language processor measured the richness of the child's language environment, including number of adult words, conversational turns, and child vocalizations. Analyses indicated no significant differences in words spoken by parents of younger versus older children with DS and significantly more words spoken by parents of TD children than parents of children with DS. Differences between the DS and TD groups were observed in rates of all vocal behaviors, with no differences noted between the younger versus older children with DS, and the younger TD children did not vocalize significantly more than the younger DS children. Parents of children with DS continue to provide consistent levels of input across the early language learning years; however, child vocal behaviors remain low after the age of 24 months, suggesting the need for additional and alternative intervention approaches.

Differences of the oral colonization by Streptococcus of the mutans group in children and adolescents with Down syndrome, mental retardation and normal controls.

PubMed

Linossier, Alfredo G; Valenzuela, Carlos Y; Toledo, Héctor

2008-09-01

to compare the concentration and serotype of Streptococcus mutans in saliva of Down syndrome (DS), mental retarded (MR) and healthy control (C) individuals of the Región Metropolitana Sur of Santiago of Chile. Hundred and seventy nine male and females children and adolescents, aged between 5 to 19 years, 59 DS, 60 MR and 60 C were studied. Saliva samples were cultured in TYCSB agar for quantification, biochemical and serological tests. ANOVA and Chi-square for homogeneity tests were applied. C, DS and MR presented Streptococcus mutans (serotypes c, e, f) and Streptococcus sobrinus (d, g, h), but only among DS and MR non-typifiable (No-tip) Streptococcus mutans were found. MR and DS showed higher bacteria concentration scores than C (P=0.001). Serotypes showed a significant heterogeneity of concentration scores: d, g, h showed the highest and No-tip the lowest one (P = 0.037). No-tip bacteria were absent in C and present in MR and DS; this result indicates different immune and ecological conditions among these human groups. The score of Streptococcus mutans in saliva was higher in DS and MR than in C.

Word-length effect in verbal short-term memory in individuals with Down's syndrome.

PubMed

Kanno, K; Ikeda, Y

2002-11-01

Many studies have indicated that individuals with Down's syndrome (DS) show a specific deficit in short-term memory for verbal information. The aim of the present study was to investigate the influence of the length of words on verbal short-term memory in individuals with DS. Twenty-eight children with DS and 10 control participants matched for memory span were tested on verbal serial recall and speech rate, which are thought to involve rehearsal and output speed. Although a significant word-length effect was observed in both groups for the recall of a larger number of items with a shorter spoken duration than for those with a longer spoken duration, the number of correct recalls in the group with DS was reduced compared to the control subjects. The results demonstrating poor short-term memory in children with DS were irrelevant to speech rate. In addition, the proportion of repetition-gained errors in serial recall was higher in children with DS than in control subjects. The present findings suggest that poor access to long-term lexical knowledge, rather than overt articulation speed, constrains verbal short-term memory functions in individuals with DS.

Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling

PubMed Central

Bourquin, Jean-Pierre; Subramanian, Aravind; Langebrake, Claudia; Reinhardt, Dirk; Bernard, Olivier; Ballerini, Paola; Baruchel, André; Cavé, Hélène; Dastugue, Nicole; Hasle, Henrik; Kaspers, Gertjan L.; Lessard, Michel; Michaux, Lucienne; Vyas, Paresh; van Wering, Elisabeth; Zwaan, Christian M.; Golub, Todd R.; Orkin, Stuart H.

2006-01-01

Individuals with Down syndrome (DS) are predisposed to develop acute megakaryoblastic leukemia (AMKL), characterized by expression of truncated GATA1 transcription factor protein (GATA1s) due to somatic mutation. The treatment outcome for DS-AMKL is more favorable than for AMKL in non-DS patients. To gain insight into gene expression differences in AMKL, we compared 24 DS and 39 non-DS AMKL samples. We found that non-DS-AMKL samples cluster in two groups, characterized by differences in expression of HOX/TALE family members. Both of these groups are distinct from DS-AMKL, independent of chromosome 21 gene expression. To explore alterations of the GATA1 transcriptome, we used cross-species comparison with genes regulated by GATA1 expression in murine erythroid precursors. Genes repressed after GATA1 induction in the murine system, most notably GATA-2, MYC, and KIT, show increased expression in DS-AMKL, suggesting that GATA1s fail to repress this class of genes. Only a subset of genes that are up-regulated upon GATA1 induction in the murine system show increased expression in DS-AMKL, including GATA1 and BACH1, a probable negative regulator of megakaryocytic differentiation located on chromosome 21. Surprisingly, expression of the chromosome 21 gene RUNX1, a known regulator of megakaryopoiesis, was not elevated in DS-AMKL. Our results identify relevant signatures for distinct AMKL entities and provide insight into gene expression changes associated with these related leukemias. PMID:16492768

Effects of persistent Mal de debarquement syndrome on balance, psychological traits, and motor cortex exctiability.

PubMed

Clark, Brian C; LePorte, Andrew; Clark, Shawn; Hoffman, Richard L; Quick, Adam; Wilson, Thad E; Thomas, James S

2013-03-01

Mal de debarquement syndrome (MdDS) is a poorly characterized and understood disorder of perceived motion. We sought to characterize postural control and the psychological impact of MdDS. Additionally, we explored whether patients with MdDS exhibit altered corticospinal and intracortical excitability. In a case-control study we compared patients with MdDS to age- and sex-matched controls (n=8/group). Postural stability (σr) was quantified from plane phase plots based on center or pressure, and psychological indices of depression, fatigue and kinesiophobia were obtained. Transcranial magnetic stimulation (TMS) was used to assess corticospinal excitability by quantifying the motor evoked potential (MEP) amplitude of the flexor carpi radialis, and intracortical excitability was assessed by quantifying indices of intracortical facilitation (ICF), and short-interval and long-interval intracortical inhibition using a paired-pulse TMS paradigm. The patients with MdDS exhibited greater mean (±standard error of the mean) σr during semi-tandem stance (10.9 ± 1.5 compared to 7.1 ± 0.7, p=0.04), higher levels of kinesiophobia (41.6 ± 2.8 compared to 27.3 ± 2.2), and higher levels of fatigue (27.0 ± 4.1 compared to 48.4 ± 1.0). Patients with MdDS exhibited a higher mean motor threshold (MT) (58.1 ± 2.5 compared to 47.4 ± 2.7% of stimulator output), and larger MEP (13.1 ± 3.1 compared to 5.1 ± 1.2% of maximal compound muscle action potential) but there was no difference in measures of intracortical excitability. These findings suggest that patients with MdDS exhibit impaired postural stability, and high levels of kinesiophobia and fatigue. Additionally, we observed that patients with MdDS exhibit higher MT and large MEP amplitudes, but do not exhibit differences in measures of intracortical excitability, compared to controls. These findings help characterize MdDS, and provide insight into the physiology of MdDS. Copyright © 2012 Elsevier Ltd. All rights reserved.

Therapy reduction in patients with Down syndrome and myeloid leukemia: the international ML-DS 2006 trial.

PubMed

Uffmann, Madita; Rasche, Mareike; Zimmermann, Martin; von Neuhoff, Christine; Creutzig, Ursula; Dworzak, Michael; Scheffers, Lenie; Hasle, Henrik; Zwaan, C Michel; Reinhardt, Dirk; Klusmann, Jan-Henning

2017-06-22

Children with myeloid leukemia associated with Down syndrome (ML-DS) have superior outcome compared with non-DS patients, but suffer from higher constitutional cytotoxic drug susceptibility. We analyzed the outcome of 170 pediatric patients with ML-DS enrolled in the prospective, multicenter, open-label, nonrandomized ML-DS 2006 trial by Nordic Society for Pediatric Hematology and Oncology (NOPHO), Dutch Childhood Oncology Group (DCOG), and Acute Myeloid Leukemia-Berlin-Frankfurt-Münster (AML-BFM) study group. Compared with the historical control arm (reduced-intensity protocol for ML-DS patients from the AML-BFM 98 trial), treatment intensity was reduced by lowering the cumulative dose of etoposide (950 to 450 mg/m 2 ) and intrathecal central nervous system prophylaxis while omitting maintenance therapy. Still, 5-year overall survival (89% ± 3% vs 90% ± 4%; P log-rank = .64), event-free survival (EFS; 87% ± 3% vs 89% ± 4%; P log-rank = .71), and cumulative incidence of relapse/nonresponse (CIR/NR; 6% ± 3% vs 6% ± 2%; P Gray = .03) did not significantly differ between the ML-DS 2006 trial and the historical control arm. Poor early treatment response (5-year EFS, 58% ± 16% vs 88% ± 3%; P log rank = .0008) and gain of chromosome 8 (CIR/NR, 16% ± 7% vs 3% ± 2%, P Gray = .02; 5-year EFS, 73% ± 8% vs 91% ± 4%, P log rank = .018) were identified as independent prognostic factors predicting a worse EFS. Five of 7 relapsed patients (71%) with cytogenetic data had trisomy 8. Our study reveals prognostic markers for children with ML-DS and illustrates that reducing therapy did not impair excellent outcome. The trial was registered at EudraCT as #2007-006219-2. © 2017 by The American Society of Hematology.

A comparison of sennosides-based bowel protocols with and without docusate in hospitalized patients with cancer.

PubMed

Hawley, Philippa Helen; Byeon, Jai Jun

2008-05-01

Constipation is a common and distressing condition in patients with cancer, especially those taking opioid analgesics. Many institutions prevent and treat constipation with titrated laxatives, which is known as a bowel protocol. An effective and well-tolerated bowel protocol is a very important component of cancer care, and there is little evidence on which to base selection of the most appropriate agents. This study compares a protocol of the stimulant laxative sennosides alone with a protocol of sennosides plus the stool softener docusate, in hospitalized patients at an oncology center. The docusate-containing protocol had an initial docusate-only step for patients not taking opioids, and four to six 100-mg capsules of docusate sodium in addition to the sennosides for the rest of the protocol. Thirty patients received the sennosides-only (S) protocol and 30 the sennosides plus docusate (DS) protocol. The efficacy and adverse effects of the protocols were monitored for 5-12 days. The two protocols were used sequentially, creating two cohorts, one on each protocol. Eighty percent of patients were taking oral opioids and 72% were admitted for symptom control/supportive care. Over a total of 488 days of observation it was found that the S protocol produced more bowel movements than the DS protocol, and in the symptom control/supportive care patients this difference was statistically significant (p < 0.05). In the S group admitted for symptom control/supportive care 62.5% had a bowel movement more than 50% of days, as compared with 32% in those receiving the DS protocol. Fifty-seven percent of the DS group required additional interventions (lactulose, suppositories or enemas) compared to 40% in the S group. Cramps were reported equally by 3 (10%) patients in each group. Eight patients (27%) experienced diarrhea in the S group compared to 4 (13%) in the DS group. The addition of the initial docusate-only step and adding docusate 400-600 mg/d to the sennosides did not reduce bowel cramps, and was less effective in inducing laxation than the sennosides-only protocol. Further research into the appropriate use of docusate and into the details of bowel protocol design are required.

Comparing the broad socio-cognitive profile of youth with Williams syndrome and 22q11.2 deletion syndrome.

PubMed

Weisman, O; Feldman, R; Burg-Malki, M; Keren, M; Geva, R; Diesendruck, G; Gothelf, D

2017-12-01

Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted. Eighty-two children participated in four study groups: WS (n = 18), 22q112.DS (n = 24), age-matched individuals with idiopathic developmental disability (IDD; n = 20) and typically developing (TD) controls (n = 20). Participants completed four socio-cognitive tests: facial emotion recognition, mental state attribution, differentiating real from apparent emotions and trait inference based on motives and actions-outcomes. The current findings demonstrate that children with WS were better in labelling happy faces compared with children with 22q11.2DS, partially reflecting their exaggerated social drive. In the false belief task, however, the WS and IDD groups performed poorly compared with the 22q11.2DS group, possibly due to their difficulty to interpret subtle social cues. When asked to identify the gap between real-negative vs. apparent-positive emotions, the 22q11.2DS group performed similarly to TD children but better than the WS group, possibly due to their anxious personality and their innate bias towards negatively valence cues. Finally, individuals with WS were more willing to become friends with a story character even when the character's motives were negative, reflecting their difficulty to avoid potentially harmful real-life situations. Overall, our multi-facet socio-cognitive battery uncovered strengths and weaknesses in social cognition that are syndrome-specific, shared among the genetic syndromes, or common to the three clinical groups compared with healthy controls. Our findings underscore the need to devise age-specific and condition-specific assessment tools and intervention programs towards improving these children's socio-cognitive deficits. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Effect of dignity therapy on end-of-life psychological distress in terminally ill Portuguese patients: A randomized controlled trial.

PubMed

Julião, Miguel; Oliveira, Fátima; Nunes, Baltazar; Carneiro, António Vaz; Barbosa, António

2017-12-01

Dignity therapy (DT) is a brief form of psychotherapy developed for patients living with a life-limiting illness that has demonstrated efficacy in treating several dimensions of end-of-life psychological distress. Our aim was to determine the influence of DT on demoralization syndrome (DS), the desire for death (DfD), and a sense of dignity (SoD) in terminally ill inpatients experiencing a high level of distress in a palliative care unit. A nonblinded phase II randomized controlled trial was conducted with 80 patients who were randomly assigned to one of two groups: the intervention group (DT + standard palliative care [SPC]) or the control group (SPC alone). The main outcomes were DS, DfD, and SoD, as measured according to DS criteria, the Desire for Death Rating Scale, and the Patient Dignity Inventory (PDI), respectively. All scales were assessed at baseline (day 1) and at day 4 of follow-up. This study is registered with http://www.controlled-trials.com/ISRCTN34354086. Of the 80 participants, 41 were randomized to DT and 39 to SPC. Baseline characteristics were similar between the two groups. DT was associated with a significant decrease in DS compared with SPC (DT DS prevalence = 12.1%; SPC DS prevalence = 60.0%; p < 0.001). Similarly, DT was associated with a significant decrease in DfD prevalence (DT DfD prevalence = 0%; SPC DfD prevalence = 14.3%; p = 0.054). Compared with participants allocated to the control group, those who received DT showed a statistically significant reduction in 19 of 25 PDI items. Dignity therapy had a beneficial effect on the psychological distress encountered by patients near the end of life. Our research suggests that DT is an important psychotherapeutic approach that should be included in clinical care programs, and it could help more patients to cope with their end-of-life experiences.

Full immersion simulation: validation of a distributed simulation environment for technical and non-technical skills training in Urology.

PubMed

Brewin, James; Tang, Jessica; Dasgupta, Prokar; Khan, Muhammad S; Ahmed, Kamran; Bello, Fernando; Kneebone, Roger; Jaye, Peter

2015-07-01

To evaluate the face, content and construct validity of the distributed simulation (DS) environment for technical and non-technical skills training in endourology. To evaluate the educational impact of DS for urology training. DS offers a portable, low-cost simulated operating room environment that can be set up in any open space. A prospective mixed methods design using established validation methodology was conducted in this simulated environment with 10 experienced and 10 trainee urologists. All participants performed a simulated prostate resection in the DS environment. Outcome measures included surveys to evaluate the DS, as well as comparative analyses of experienced and trainee urologist's performance using real-time and 'blinded' video analysis and validated performance metrics. Non-parametric statistical methods were used to compare differences between groups. The DS environment demonstrated face, content and construct validity for both non-technical and technical skills. Kirkpatrick level 1 evidence for the educational impact of the DS environment was shown. Further studies are needed to evaluate the effect of simulated operating room training on real operating room performance. This study has shown the validity of the DS environment for non-technical, as well as technical skills training. DS-based simulation appears to be a valuable addition to traditional classroom-based simulation training. © 2014 The Authors BJU International © 2014 BJU International Published by John Wiley & Sons Ltd.

Wideband reflectance in Down syndrome.

PubMed

Soares, Jordana Costa; Urosas, Juliana Granja; Calarga, Karenina Santos; Pichelli, Tathiany Silva; Limongi, Suelly Cecília Olivan; Shahnaz, Navid; Carvallo, Renata Mota Mamede

2016-08-01

Children with Down syndrome (DS) have a high incidence of middle ear disorders and congenital abnormalities of the external, middle and inner ear. Energy reflectance (ER), a wideband acoustic immittance (WAI) measurement parameter, can measure the sound energy reflected or absorbed in the ear canal over a wider range of frequencies more efficiently and faster than conventional single-tone 226 Hz tympanometry. The aim of the present study was to compare the WAI measurements of children with DS with those of typically developing, normal-hearing children according to their tympanometric findings. Four groups of children with Down syndrome (age range: 2 years and 4 months to 16 years and 3 months; mean age: 8.5 yr) with normal tympanograms (19 ears), flat tympanograms (13 ears), mild negative pressure tympanograms (6 ears between -100 and -199 daPa at the admittance peak) and severe negative pressure tympanograms (4 ears at -200 daPa or lower at the admittance peak) were assessed. All findings were compared with data obtained from 21 ears of a healthy control group (age range: 3 years and 1 month to 13 years and 11 months; mean age: 7.9 yr). The subjects underwent tympanometry with a 226-Hz probe tone frequency and ER measurements along the 200-6,000 Hz range with a chirp stimulus using the Middle-Ear Power Analyzer (MEPA3 - HearID) by Mimosa Acoustics (Champaign, IL), software, version 3.3 [38]. Statistically significant differences were observed in the ER curves for some comparisons between the studied groups. There was also a negative correlation between the static acoustic admittance at the tympanic membrane level and ER measured with a chirp stimulus at 500 and 1,000 Hz. The discriminant analysis technique, which used a chirp stimulus at 1,000 and 1,600 Hz to classify the participants' data based on ER values, achieved a correct classification rate of 59.52% for participants with DS. While groups with abnormal middle ear status, as indicated by tympanometry, showed higher ER values compared to the DS tymp A group and the control group, similar reflectance curves were observed between control group and the DS tymp A group. WAI shows promise as a clinical diagnostic tool in investigating the impact of middle ear disorders in DS group. However, further research is required to investigate this issue in narrower age range group and a larger sample size. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Survival and Morbidity Outcomes of Very Low Birth Weight Infants with Down Syndrome

PubMed Central

Boghossian, Nansi S.; Hansen, Nellie I.; Bell, Edward F.; Stoll, Barbara J.; Murray, Jeffrey C.; Laptook, Abbot R.; Shankaran, Seetha; Walsh, Michele C.; Das, Abhik; Higgins, Rosemary D.

2010-01-01

OBJECTIVE Individuals with Down syndrome (DS) are at increased risk of several morbidities with lifelong health consequences. Little is known about mortality or morbidity risks in early infancy among very-low-birth-weight (VLBW) infants with DS. Our objective was to compare survival and neonatal morbidities between VLBW infants with DS and VLBW infants with other non-DS chromosomal anomalies, other non-chromosomal birth defects, and VLBW infants without major birth defects. METHODS Data were collected prospectively for infants weighing 401-1500 grams born and/or cared for at one of the study centers participating in the NICHD Neonatal Research Network from 1994 through 2008. Risk of death and morbidities including patent ductus arteriosus (PDA), necrotizing enterocolitis (NEC), late onset sepsis (LOS), retinopathy of prematurity (ROP), and bronchopulmonary dysplasia (BPD), were compared between VLBW infants with DS and infants in the other groups. RESULTS Infants with DS were at increased risk of death (adjusted relative risk [RR] 2.47, 95% confidence interval [CI] 2.00-3.07), PDA, NEC, LOS, and BPD relative to infants with no birth defects. Decreased risk of death (RR 0.40, 95% CI 0.31-0.52) and increased risks of NEC and LOS were observed when comparing infants with DS to infants with other non-DS chromosomal anomalies. Relative to infants with non-chromosomal birth defects, infants with DS were at increased risk of PDA and NEC. CONCLUSION The increased risk of morbidities among VLBW infants with DS provides useful information for counseling parents and for caretakers in anticipating the need for enhanced surveillance for prevention of these morbidities. PMID:21098157

Survival and morbidity outcomes for very low birth weight infants with Down syndrome.

PubMed

Boghossian, Nansi S; Hansen, Nellie I; Bell, Edward F; Stoll, Barbara J; Murray, Jeffrey C; Laptook, Abbot R; Shankaran, Seetha; Walsh, Michele C; Das, Abhik; Higgins, Rosemary D

2010-12-01

Our objective was to compare survival and neonatal morbidity rates between very low birth weight (VLBW) infants with Down syndrome (DS) and VLBW infants with non-DS chromosomal anomalies, nonchromosomal birth defects (BDs), and no chromosomal anomaly or major BD. Data were collected prospectively for infants weighing 401 to 1500 g who were born and/or cared for at one of the study centers participating in the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network in 1994-2008. Risk of death and morbidities, including patent ductus arteriosus (PDA), necrotizing enterocolitis (NEC), late-onset sepsis (LOS), retinopathy of prematurity, and bronchopulmonary dysplasia (BPD), were compared between VLBW infants with DS and infants in the other groups. Infants with DS were at increased risk of death (adjusted relative risk: 2.47 [95% confidence interval: 2.00-3.07]), PDA, NEC, LOS, and BPD, relative to infants with no BDs. Decreased risk of death (relative risk: 0.40 [95% confidence interval: 0.31-0.52]) and increased risks of NEC and LOS were observed when infants with DS were compared with infants with other non-DS chromosomal anomalies. Relative to infants with nonchromosomal BDs, infants with DS were at increased risk of PDA and NEC. The increased risk of morbidities among VLBW infants with DS provides useful information for counseling parents and for anticipating the need for enhanced surveillance for prevention of these morbidities.

Developmental delays in phonological recoding among children and adolescents with Down syndrome and Williams syndrome.

PubMed

Danielsson, Henrik; Henry, Lucy; Messer, David; Carney, Daniel P J; Rönnberg, Jerker

2016-08-01

This study examined the development of phonological recoding in short-term memory (STM) span tasks among two clinical groups with contrasting STM and language profiles: those with Down syndrome (DS) and Williams syndrome (WS). Phonological recoding was assessed by comparing: (1) performance on phonologically similar and dissimilar items (phonological similarity effects, PSE); and (2) items with short and long names (word length effects, WLE). Participant groups included children and adolescents with DS (n=29), WS (n=25) and typical development (n=51), all with average mental ages around 6 years. The group with WS, contrary to predictions based on their relatively strong verbal STM and language abilities, showed no evidence for phonological recoding. Those in the group with DS, with weaker verbal STM and language abilities, showed positive evidence for phonological recoding (PSE), but to a lesser degree than the typical group (who showed PSE and WLE). These findings provide new information about the memory systems of these groups of children and adolescents, and suggest that STM processes involving phonological recoding do not fit with the usual expectations of the abilities of children and adolescents with WS and DS. Copyright © 2016 Elsevier Ltd. All rights reserved.

Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study.

PubMed

Mekori-Domachevsky, Ehud; Guri, Yael; Yi, James; Weisman, Omri; Calkins, Monica E; Tang, Sunny X; Gross, Raz; McDonald-McGinn, Donna M; Emanuel, Beverly S; Zackai, Elaine H; Zalsman, Gil; Weizman, Abraham; Gur, Ruben C; Gur, Raquel E; Gothelf, Doron

2017-10-01

About one third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop schizophrenia. Notably, a full-blown psychotic disorder is usually preceded by subthreshold symptoms. Therefore, it is important to identify early signs of psychosis in this population, a task that is complicated by the intellectual disabilities typically seen in 22q11.2DS. We aimed to identify subthreshold psychotic symptoms that distinguish 22q11.2DS from other neurodevelopmental disorders. The study included two independent cohorts from Tel Aviv and Philadelphia. 22q11.2DS (N=171) and typically developing (TD; N=832) individuals were enrolled at both sites and further compared to two groups with intellectual disabilities: Williams syndrome (WS; N=21) in the Tel Aviv cohort and idiopathic developmental disabilities (IDD; N=129) in the Philadelphia cohort. Participants and their primary caregivers were interviewed with the Structured Interview for Prodromal Symptoms (SIPS) and psychopathologies were assessed using standardized tools; general cognitive abilities were assessed with the Computerized Neurocognitive Battery. Negative/disorganized subthreshold syndrome was significantly more common in the 22q11.2DS group than in the WS (OR=3.90, 95% CI=1.34-11.34) or IDD (OR=5.05, 95% CI=3.01-10.08) groups. The 22q11.2DS group had higher scores than the two intellectual disabilities groups on several SIPS negative items, including avolition and decreased expression of emotion. Overall, there were few significant correlations between level of cognitive deficits and severity of negative symptoms in 22q11.2DS and only in the Tel Aviv cohort. Our findings suggest that 22q11.2DS individuals at the age of risk for developing psychosis should be closely monitored for negative symptoms. Copyright © 2016 Elsevier B.V. All rights reserved.

Effects of transcranial direct current stimulation on hemichannel pannexin-1 and neural plasticity in rat model of cerebral infarction.

PubMed

Jiang, T; Xu, R X; Zhang, A W; Di, W; Xiao, Z J; Miao, J Y; Luo, N; Fang, Y N

2012-12-13

The aim of this study was to investigate the effects of transcranial direct current stimulation (TDCS) on hemichannel pannexin-1 (PX1) in cortical neurons and neural plasticity, and explore the optimal time window of TDCS therapy after stroke. Adult male Sprague-Dawley rats (n=90) were randomly assigned to sham operation, middle cerebral artery occlusion (MCAO), and TDCS groups, and underwent sham operation, unilateral middle cerebral artery (MCA) electrocoagulation, and unilateral MCA electrocoagulation plus TDCS (daily anodal and cathodal 10 Hz, 0.1 mA TDCS for 30 min beginning day 1 after stroke), respectively. Motor function was assessed using the beam walking test (BWT), and density of dendritic spines (DS) and PX1 mRNA expression were compared among groups on days 3, 7, and 14 after stroke. Effects of PX1 blockage on DS in hippocampal neurons after hypoxia-ischemia were observed. TDCS significantly improved motor function on days 7 and 14 after stroke as indicated by reduced BWT scores compared with the MCAO group. The density of DS was decreased after stroke; the TDCS group had increased DS density compared with the MCAO group on days 3, 7, and 14 (all P<0.0001). Cerebral infarction induced increased PX1 mRNA expression on days 3, 7, and 14 (P<0.0001), and the peak PX1 mRNA expression was observed on day 7. TDCS did not decrease the up-regulated PX1 mRNA expression after stroke on day 3, but did reduce the increased post-stroke PX1 mRNA expression on days 7 and 14 (P<0.0001). TDCS increased the DS density after stroke, indicating that it may promote neural plasticity after stroke. TDCS intervention from day 7 to day 14 after stroke demonstrated motor function improvement and can down-regulate the elevated PX1 mRNA expression after stroke. Copyright © 2012 IBRO. Published by Elsevier Ltd. All rights reserved.

Vocal Interaction between Children with Down syndrome and their Parents

PubMed Central

Thiemann-Bourque, Kathy S.; Warren, Steven F.; Brady, Nancy; Gilkerson, Jill; Richards, Jeffrey A.

2014-01-01

Purpose The purpose of this study was to describe differences in parent input and child vocal behaviors of children with Down syndrome (DS) compared to typically developing (TD) children. The goals were to describe the language learning environments at distinctly different ages in early childhood. Method Nine children with DS and 9 age-matched TD children participated; four children in each group were ages 9–11 months and five were between 25–54 months. Measures were derived from automated vocal analysis. A digital language processer measured the richness of the child’s language environment, including number of adult words, conversational turns, and child vocalizations. Results Analyses indicated no significant differences in words spoken by parents of younger vs. older children with DS, and significantly more words spoken by parents of TD children than parents of children with DS. Differences between the DS and TD groups were observed in rates of all vocal behaviors; with no differences noted between the younger vs. older children with DS, and the younger TD children did not vocalize significantly more than the younger DS children. Conclusions Parents of children with DS continue to provide consistent levels of input across the early language learning years; however, child vocal behaviors remain low after the age of 24 months suggesting the need for additional and alternative intervention approaches. PMID:24686777

Doxycycline-rifampin versus doxycycline-streptomycin in treatment of human brucellosis due to Brucella melitensis. The GECMEI Group. Grupo de Estudio de Castilla-la Mancha de Enfermedades Infecciosas.

PubMed

Solera, J; Rodríguez-Zapata, M; Geijo, P; Largo, J; Paulino, J; Sáez, L; Martínez-Alfaro, E; Sánchez, L; Sepulveda, M A; Ruiz-Ribó, M D

1995-09-01

Brucellosis is a common zoonosis in many parts of the world; the best regimen for the treatment of brucellosis has not been clearly determined. We have carried out a multicenter, open, controlled trial in five general hospitals in Spain to compare the efficacy and safety of doxycycline and rifampin (DR) versus doxycycline and streptomycin (DS) for the treatment of human brucellosis. The study included 194 ambulatory or hospitalized patients with acute brucellosis, without endocarditis or neurobrucellosis. The diagnostic criterion was isolation of Brucella species from blood or other tissues (n = 120) or a standard tube agglutination titer of 1/160 or more for anti-Brucella antibodies with compatible clinical findings (n = 74). Patients were randomly assigned to receive either 100 mg of doxycycline twice daily plus rifampin, 900 mg/day, in a single morning dose for 45 days (DR group) or the same dose of doxycycline for 45 days plus streptomycin, 1 g/day, intramuscularly for 14 days (DS group). A lack of therapeutic efficacy developed in 8 of the 100 patients in the DR group (8%) and in 2 of the 94 patients in the DS group (2%)(P = 0.10). Relapses occurred in 16 of the 100 patients in the DR group (16%) but in only 5 of the 94 patients in the DS group (5.3%) (P = 0.02). When relapse was considered in combination with initial lack of efficacy, 26 patients in the DR group (24%) and 7 patients in the DS group (7.45%) failed to respond to therapy (P = 0.0016). In general, therapy was well tolerated and only four patients (4%) in the DR group and two (2%) in the DS group had episodes of adverse effects necessitating discontinuation of treatment (P> 0.2). We conclude that a doxycycline-and-rifampin regimen is less effective than the doxycycline-and-streptomycin regimen in patients with acute brucellosis.

Predominant Leg Pain Is Associated With Better Surgical Outcomes in Degenerative Spondylolisthesis and Spinal Stenosis: Results from the Spine Patient Outcomes Research Trial (SPORT)

PubMed Central

Pearson, Adam; Blood, Emily; Lurie, Jon; Abdu, William; Sengupta, Dilip; Frymoyer, John W.; Weinstein, James

2010-01-01

Study Design As-treated analysis of the Spine Patient Outcomes Research Trial (SPORT). Objective To compare baseline characteristics and surgical and nonoperative outcomes in degenerative spondylolisthesis (DS) and spinal stenosis (SpS) patients stratified by predominant pain location (i.e. leg vs. back). Summary of Background Data Evidence suggests that degenerative spondylolisthesis (DS) and spinal stenosis (SpS) patients with predominant leg pain may have better surgical outcomes than patients with predominant low back pain (LBP). Methods The DS cohort included 591 patients (62% underwent surgery), and the SpS cohort included 615 patients (62% underwent surgery). Patients were classified as leg pain predominant, LBP predominant or having equal pain according to baseline pain scores. Baseline characteristics were compared between the three predominant pain location groups within each diagnostic category, and changes in surgical and nonoperative outcome scores were compared through two years. Longitudinal regression models including baseline covariates were used to control for confounders. Results Among DS patients at baseline, 34% had predominant leg pain, 26% had predominant LBP, and 40% had equal pain. Similarly, 32% of SpS patients had predominant leg pain, 26% had predominant LBP, and 42% had equal pain. DS and SpS patients with predominant leg pain had baseline scores indicative of less severe symptoms. Leg pain predominant DS and SpS patients treated surgically improved significantly more than LBP predominant patients on all primary outcome measures at one and two years. Surgical outcomes for the equal pain groups were intermediate to those of the predominant leg pain and LBP groups. The differences in nonoperative outcomes were less consistent. Conclusions Predominant leg pain patients improved significantly more with surgery than predominant LBP patients. However, predominant LBP patients still improved significantly more with surgery than with nonoperative treatment. PMID:21124260

Different views of dentists and general medical practitioners on dental care for patients with diabetes mellitus and coronary heart diseases: results of a questionnaire-based survey in a district of Germany.

PubMed

Ziebolz, Dirk; Reiss, Lucie; Schmalz, Gerhard; Krause, Felix; Haak, Rainer; Mausberg, Rainer F

2018-06-01

The aim of this questionnaire-based study was to evaluate the views of dentists (Ds) and general medical practitioners (GPs) on different aspects of dental care for patients with diabetes mellitus (DM) or coronary heart disease (CHD). Reliable and comparable questionnaires for Ds and GPs, with 23 questions, were sent to 1,000 randomly selected Ds and 1,000 randomly selected GPs. Questions were asked about patients with DM or CHD regarding their dental care and potentially related issues (e.g. antibiotic prophylaxis). The responses received within 12 weeks were evaluated and statistically analysed using chi-square and Mann-Whitney U tests (P < 0.05). The response rate was 39% (n = 391) for Ds and 18% (n = 181) for GPs. Both groups stated that they used the medical history as well as patient interviews to assess patients. However, only 55% of Ds assumed correct identification of every at-risk patient compared with 100% of GPs (P < 0.01). Furthermore, Ds speculated that they inform their patients more often about their at-risk status than do GPs (P < 0.01). Neither Ds nor GPs appeared to be confident in their knowledge about adequate antibiotic prophylaxis. Interdisciplinary collaboration was considered insufficient, although Ds had a higher rate of regular collaboration (68% for Ds vs. 40% for GPs; P < 0.01). Ds and GPs have differing views on dental care of patients with DM or CHD, and Ds showed more interest in this issue. These results might partially explain the insufficient collaboration between Ds and GPs. © 2017 FDI World Dental Federation.

Variability in Objective Refraction for Persons with Down Syndrome.

PubMed

Marsack, Jason D; Ravikumar, Ayeswarya; Benoit, Julia S; Anderson, Heather A

2017-05-01

Down syndrome (DS) is associated with ocular and cognitive sequelae, which both have the potential to influence clinical measures of refractive error. This study compares variability of autorefraction among subjects with and without DS. Grand Seiko autorefraction was performed on 139 subjects with DS (age: 8-55, mean: 25 ± 9 yrs) and 138 controls (age: 7-59, mean: 25 ± 10 yrs). Subjects with three refraction measures per eye (DS: 113, control: 136) were included for analysis. Each refraction was converted to power vector notation (M, J0, J45) and a difference in each component (ΔM, ΔJ0, ΔJ45) was calculated for each refraction pairing. From these quantities, average dioptric strength ((Equation is included in full-text article.): square root of the sum of the squares of M, J0, and J45) and average dioptric difference ((Equation is included in full-text article.): square root of the sum of the squares of ΔM, ΔJ0, and ΔJ45) were calculated. The DS group exhibited a greater median (Equation is included in full-text article.)(1Q: 1.38D M: 2.38D 3Q: 3.41D) than control eyes (1Q: 0.47D M: 0.96D 3Q: 2.75D) (P < .001). Likewise, the DS group exhibited a greater median (Equation is included in full-text article.)in refraction (1Q: 0.27D M: 0.42D 3Q: 0.78D) than control eyes (1Q: 0.11D M: 0.15D 3Q: 0.23D) (P < .001) with 97.1% of control eyes exhibiting (Equation is included in full-text article.)≤0.50D, compared to 59.3% of DS eyes. An effect of (Equation is included in full-text article.)on (Equation is included in full-text article.)was not detected (P = .3009) nor was a significant interaction between (Equation is included in full-text article.)and group detected (P = .49). In the current study, comparing three autorefraction readings, median total dioptric difference with autorefraction in DS was 2.8 times the levels observed in controls, indicating greater potential uncertainty in objective measures of refraction for this population. The analysis demonstrates that J45 is highly contributory to the observed variability.

[Dynamic vision of sportsmen with different requirement profiles for the visual apparatus].

PubMed

Lüder, A; Andexer, V; Witte, K; Böckelmann, I

2011-12-01

In particular, in the quick ball and racket games a good dynamic seeing is required . The afferent dynamic seeing occurs via the retiina which mediates the stimuli for efferent dynamic seeing . The aim of this study was to examine the dynamic visual acuity of sportsmen from sports with different demands on their dynamic seeing (DS). 19 sports students took part in the study. 10 subjects participated in coached team sports (group I) and 9 remaining performed individual sports (group II). The DS was assessed by means of the Düsseldorfer test for dynamic seeing of Wist which was performed twice on one day. The DS of the two groups in the first study did not differ (right eye 95.7 ± 10.6 % in group I vs. 94.3 ± 6.9 % in group II and left eye 97.6 ± 4.8 % vs. 95.3 ± 5.6 %; p ≥ 0.05). Also the second study there was no different in DS for the two groups (right eye 98.3 ± 2.6 % vs. 93.8 ± 8.0 % and left eye 99.3 ± 1.2 % vs. 95.6 ± 7.0 %; p ≥ 0.05). Our hypothesis about a different DS in players of ball games compared with non-ball sport players could not be proved. It is to be critically noted that a generalization is not possible due to the small sample numbers. Because DS is a necessary precondition in ball games further studies should be concentrated on its trainability. © Georg Thieme Verlag KG Stuttgart · New York.

Adolescent adaptive behavior profiles in Williams-Beuren syndrome, Down syndrome, and autism spectrum disorder.

PubMed

Del Cole, Carolina Grego; Caetano, Sheila Cavalcante; Ribeiro, Wagner; Kümmer, Arthur Melo E E; Jackowski, Andrea Parolin

2017-01-01

Adaptive behavior can be impaired in different neurodevelopmental disorders and may be influenced by confounding factors, such as intelligence quotient (IQ) and socioeconomic classification. Our main objective was to verify whether adaptive behavior profiles differ in three conditions-Williams Beuren syndrome (WBS), Down syndrome (DS), and autism spectrum disorder (ASD), as compared with healthy controls (HC) and with each other. Although the literature points towards each disorder having a characteristic profile, no study has compared profiles to establish the specificity of each one. A secondary objective was to explore potential interactions between the conditions and socioeconomic status, and whether this had any effect on adaptive behavior profiles. One hundred and five adolescents were included in the study. All adolescents underwent the following evaluations: the Vineland Adaptive Behavior Scale (VABS), the Wechsler Intelligence Scale for Children (WISC), and the Brazilian Economic Classification Criteria. Our results demonstrated that the WBS group performed better than the DS group in the communication domain, β = -15.08, t(3.45), p = .005, and better than the ASD group in the socialization domain, β = 8.92, t(-2.08), p = .013. The DS group also performed better than the ASD group in socialization, β = 16.98, t(-2.32), p = .024. IQ was an important confounding factor, and socioeconomic status had an important effect on the adaptive behavior of all groups. There is a heterogeneity regarding adaptive behavior profiles in WBS, DS, and ASD. These data are important to better design specific strategies related to the health and social care of each particular group.

Amino acid metabolic processes in the temporal lobes assessed by proton magnetic resonance spectroscopy (1H MRS) in children with Down syndrome.

PubMed

Śmigielska-Kuzia, Joanna; Boćkowski, Leszek; Sobaniec, Wojciech; Kułak, Wojciech; Sendrowski, Krzysztof

2010-01-01

Down syndrome (DS), or trisomy 21, is one of the most common autosomal mutations. The overexpression of the β-amyloid precursor protein gene, located on chromosome 21, causes an increased production of the specific amyloid. The current study is a continuation of our earlier investigations relating to the profile of metabolic changes in the frontal lobes of DS patients as assessed by proton magnetic resonance spectroscopy ((1)H MRS). The aims of the study were the morphological assessment of the brain using magnetic resonance imaging (MRI) and the evaluation of metabolic disorders of the temporal lobes using (1)H MRS in DS children. The study group included 20 children with DS aged 3-15 years and treated in the Department of Pediatric Neurology and Rehabilitation, Medical University of Białystok. The control group included healthy children (n = 20). MRI scans of the heads of DS children were performed using a 1.5 T MR scanner under standard conditions. (1)H MRS investigations were also carried out to assess metabolic changes in the temporal lobes. Metabolites, such as N-acetylaspartate (NAA), glutamate-glutamine complex (Glx), choline (Cho), myoinositol (mI) and γ-aminobutyric acid (GABA), were determined in both temporal lobes with reference to the internal marker creatine (Cr). Results were compared with the control group.We found a statistically significant decrease in NAA/Cr, Cho/Cr, mI/Cr and GABA/Cr ratios. The Glx/Cr ratio in both temporal lobes of DS patients did not differ from the control group. Our results indicate metabolic neurotransmitter disorders in the central nervous system in children with DS.

Foot Structure in Boys with Down Syndrome.

PubMed

Puszczałowska-Lizis, Ewa; Nowak, Krzysztof; Omorczyk, Jarosław; Ambroży, Tadeusz; Bujas, Przemysław; Nosiadek, Leszek

2017-01-01

Down syndrome (DS) is associated with numerous developmental abnormalities, some of which cause dysfunctions of the posture and the locomotor system. The analysis of selected features of the foot structure in boys with DS versus their peers without developmental disorders is done. The podoscopic examination was performed on 30 boys with DS aged 14-15 years. A control group consisted of 30 age- and gender-matched peers without DS. The feet of boys with DS are flatter compared to their healthy peers. The hallux valgus angle is not the most important feature differentiating the shape of the foot in the boys with DS and their healthy peers. In terms of the V toe setting, healthy boys had poorer results. Specialized therapeutic treatment in individuals with DS should involve exercises to increase the muscle strength around the foot joints, enhancing the stabilization in the joints and proprioception. Introducing orthotics and proper footwear is also important. It is also necessary to monitor the state of the foot in order to modify undertaken therapies.

Handwriting in Children and Adults with Down Syndrome: Developmental Delay or Specific Features?

ERIC Educational Resources Information Center

Tsao, Raphaele

2017-01-01

While there is a long history and tradition of behavioral research on basic motor skills in Down syndrome (DS), there has been only limited research on handwriting ability. We analyzed the spatiotemporal features of handwriting produced by children and adults with DS (n = 24), and compared their productions with those of comparison groups matched…

Profiles of Everyday Executive Functioning in Young Children with Down Syndrome

ERIC Educational Resources Information Center

Daunhauer, Lisa A.; Fidler, Deborah J.; Hahn, Laura; Will, Elizabeth; Lee, Nancy Raitano; Hepburn, Susan

2014-01-01

We investigated executive functioning (EF) in children with Down syndrome (DS; n = 25) and typically developing (TD) children matched for mental age (MA; n = 23) using the Behavior Rating Inventory of Executive Function-Preschool. We sought to (1) compare children with DS to a developmentally matched control group, and (2) to characterize the EF…

Discriminating Down Syndrome and Fragile X Syndrome Based on Language Ability

ERIC Educational Resources Information Center

Finestack, Lizbeth H.; Sterling, Audra M.; Abbeduto, Leonard

2013-01-01

This study compared the receptive and expressive language profiles of verbally expressive children and adolescents with Down Syndrome (DS) and those with Fragile X syndrome (FXS) and examined the extent to which these profiles reliably differentiate the diagnostic groups. A total of twenty-four verbal participants with DS (mean age: 12 years),…

Endoscopic duodenal stent versus surgical gastrojejunostomy for gastric outlet obstruction in patients with advanced pancreatic cancer.

PubMed

Uemura, Shinya; Iwashita, Takuji; Iwata, Keisuke; Mukai, Tsuyoshi; Osada, Shinji; Sekino, Takafumi; Adachi, Takahito; Kawai, Masahiko; Yasuda, Ichiro; Shimizu, Masahito

2018-05-03

Malignant gastric outlet obstruction (GOO) often develops in patients with advanced pancreatic cancer (APC). It is not clear whether endoscopic duodenal stenting (DS) or surgical gastrojejunostomy (GJJ) is preferable as palliative treatment. To compare the efficacy and safety of GJJ and DS for GOO with APC. Consecutive 99 patients who underwent DS or GJJ for GOO with APC were evaluated. We compared the technical and clinical success rates, the incidence of adverse event (AE), the time to start chemotherapy and discharge and survival durations between DS and GJJ. Prognostic factors for overall survival (OS) were investigated on the multivariate analysis. GOO was managed with GJJ in 35 and DS in 64. The technical and clinical success rates were comparable. DS was associated with shorter time to start oral intake and earlier chemotherapy start and discharge. No difference was seen in the early and late AE rates. Multivariate analyses of prognostic factors for OS showed that performance status ≧2, administration of chemotherapy, and presence of obstructive jaundice to be significant factors. There were no significant differences in survival durations between the groups, regardless of the PS. There were no significant differences in the technical and clinical success and AE rates and survival duration between DS and GJJ in management of GOO by APC. DS may be a preferable option over GJJ given that it will lead to an earlier return to oral intake, a shortened length of hospital stay, and finally an earlier referral for chemotherapy. Copyright © 2018 IAP and EPC. Published by Elsevier B.V. All rights reserved.

The autistic phenotype in Down syndrome: differences in adaptive behaviour versus Down syndrome alone and autistic disorder alone.

PubMed

Dressler, Anastasia; Perelli, Valentina; Bozza, Margherita; Bargagna, Stefania

2011-01-01

The autistic phenotype in Down syndrome (DS) is marked by a characteristic pattern of stereotypies, anxiety and social withdrawal. Our aim was to study adaptive behaviour in DS with and without autistic comorbidity using the Vineland Adaptive Behaviour Scales (VABS), the Childhood Autism Rating Scales (CARS) and the DSM IV-TR criteria. We assessed 24 individuals and established three groups: Down syndrome (DS), DS and autistic disorder (DS-AD), and autistic disorder (AD). The DS and DS-AD groups showed statistically significantly similar strengths on the VABS (in receptive and domestic skills). The DS and DS-AD subjects also showed similar strengths on the CARS (in imitation and relating), differing significantly from the AD group. The profile of adaptive functioning and symptoms in DS-AD seemed to be more similar to that found in DS than to the profile emerging in AD. We suggest that the comorbidity of austistic symptoms in DS hampered the acquisition of adaptive skills more than did the presence of DS alone.

The autistic phenotype in Down syndrome: differences in adaptive behaviour versus Down syndrome alone and autistic disorder alone

PubMed Central

Dressler, Anastasia; Perelli, Valentina; Bozza, Margherita; Bargagna, Stefania

Summary The autistic phenotype in Down syndrome (DS) is marked by a characteristic pattern of stereotypies, anxiety and social withdrawal. Our aim was to study adaptive behaviour in DS with and without autistic comorbidity using the Vineland Adaptive Behaviour Scales (VABS), the Childhood Autism Rating Scales (CARS) and the DSM IV-TR criteria. We assessed 24 individuals and established three groups: Down syndrome (DS), DS and autistic disorder (DS-AD), and autistic disorder (AD). The DS and DS-AD groups showed statistically significantly similar strengths on the VABS (in receptive and domestic skills). The DS and DS-AD subjects also showed similar strengths on the CARS (in imitation and relating), differing significantly from the AD group. The profile of adaptive functioning and symptoms in DS-AD seemed to be more similar to that found in DS than to the profile emerging in AD. We suggest that the comorbidity of austistic symptoms in DS hampered the acquisition of adaptive skills more than did the presence of DS alone. PMID:22152436

The role of nonsteroidal anti-inflammatory drugs intramuscular injection in the development and severity of deep soft tissue infection in mice.

PubMed

Ture, Zeynep; Demiraslan, Hayati; Kontas, Olgun; Alp, Emine; Doganay, Mehmet

2018-04-01

The aim of this study was to determine the role of nonsteroidal anti-inflammatory drugs (NSAID) injection on the severity of local infection and the effect on the progression of soft tissue infection (STI).The mouse model of STI with Group A streptococcus (GAS) was developed and treated with diclofenac sodium (DS) intramuscularly. Mice were divided into five groups: administered DS for 48 h before GAS (Group 1), GAS-DS and maintained DS for 48 h (Group 2), DS for 48 h (Group 3), GAS on zero time (Group 4), and control (Group 5). In vitro, a high concentration (40 mg/L) of DS inhibited GAS growth, whereas a lower concentration (0.4 mg/L) was not effective. Sepsis was observed in animals with DS and GAS inoculation (group 1 and 2). Group 4 had statistically significant higher bacterial load than groups 1 and 2. All groups had a higher inflammation rate than the control group. The median of TNF-alpha and mean IL-6 in the groups 1, 2, and 4 was significantly higher than those in the control group. Even if the animals that were treated with DS injection prior to the GAS inoculation had similar inflammation score, similar cytokine levels and low bacterial load in the tissue, they had a rather high rate of sepsis. In conclusion, DS injection prior to bacterial inoculation might predispose to bacteremia and sepsis. © 2017 Société Française de Pharmacologie et de Thérapeutique.

Effectiveness of virtual reality using Wii gaming technology in children with Down syndrome.

PubMed

Wuang, Yee-Pay; Chiang, Ching-Sui; Su, Chwen-Yng; Wang, Chih-Chung

2011-01-01

This quasi-experimental study compared the effect of standard occupational therapy (SOT) and virtual reality using Wii gaming technology (VRWii) on children with Down syndrome (DS). Children (n = 105) were randomly assigned to intervention with either SOT or VRWii, while another 50 served as controls. All children were assessed with measures of sensorimotor functions. At post-intervention, the treatment groups significantly outperformed the control group on all measures. Participants in the VRWii group had a greater pre-post change on motor proficiency, visual-integrative abilities, and sensory integrative functioning. Virtual reality using Wii gaming technology demonstrated benefit in improving sensorimotor functions among children with DS. It could be used as adjuvant therapy to other proven successful rehabilitative interventions in treating children with DS. Copyright © 2010 Elsevier Ltd. All rights reserved.

Quantitative sensory testing of temperature, pain, and touch in adults with Down syndrome.

PubMed

de Knegt, Nanda; Defrin, Ruth; Schuengel, Carlo; Lobbezoo, Frank; Evenhuis, Heleen; Scherder, Erik

2015-12-01

The spinothalamic pathway mediates sensations of temperature, pain, and touch. These functions seem impaired in children with Down syndrome (DS), but have not been extensively examined in adults. The objective of the present study was to compare the spinothalamic-mediated sensory functions between adults with DS and adults from the general population and to examine in the DS group the relationship between the sensory functions and level of intellectual functioning. Quantitative sensory testing (QST) was performed in 188 adults with DS (mean age 37.5 years) and 142 age-matched control participants (median age 40.5 years). Temperature, pain, and touch were evaluated with tests for cold-warm discrimination, sharp-dull discrimination (pinprick), and tactile threshold, respectively. Level of intellectual functioning was estimated with the Social Functioning Scale for Intellectual Disability (intellectual disability level) and the Wechsler Preschool and Primary Scale of Intelligence--Revised (intelligence level). Overall, the difference in spinothalamic-mediated sensory functions between the DS and control groups was not statistically significant. However, DS participants with a lower intelligence level had a statistically significant lower performance on the sharp-dull discrimination test than DS participants with higher intelligence level (adjusted p=.006) and control participants (adjusted p=.017). It was concluded that intellectual functioning level is an important factor to take into account for the assessment of spinothalamic-mediated sensory functioning in adults with DS: a lower level could coincide with impaired sensory functioning, but could also hamper QST assessment. Copyright © 2015 Elsevier Ltd. All rights reserved.

Exploratory study on cognitive abilities and social responsiveness in children with 22q11.2 deletion syndrome (22q11DS) and children with idiopathic intellectual disability (IID).

PubMed

Van Den Heuvel, Ellen; Jonkers, Evi; Rombouts, Ellen; Manders, Eric; Zink, Inge; Swillen, Ann

2018-06-20

Development of cognitive skills and social responsiveness are areas of concern in children with 22q11.2 deletion syndrome (22q11DS). It remains unclear if the cognitive and social profiles and trajectories are syndrome-specific or similar to those of children with idiopathic intellectual disabilities (IID) with or without comorbid autism spectrum disorder (ASD). In this exploratory study, we examined and compared five broad cognitive abilities (BCAs) and the social responsiveness in primary school-aged children with 22q11DS (age 6-13, n = 21) and IQ-matched peers with IID (n = 21). The relative strengths and weaknesses of both groups were re-evaluated after 19 to 30 months. Four different cognitive trajectories (i.e. absolute progress, stability, growing into deficit, and absolute decline) were demonstrated in both groups. Most children showed combined types of trajectories across BCAs resulting in a complex changing cognitive profile. In the 22q11DS group, social responsiveness problems increased, whereas no significant change was observed in the IID group. Results reflect similar cognitive and social responsiveness profiles and trajectories across groups with children with 22q11DS being more at risk for growing into a social deficit. We recommend repeated monitoring of social skills development to adapt the environmental demands to the child's individual social capacities. Copyright © 2018 Elsevier Ltd. All rights reserved.

The Role of Vocabulary, Working Memory and Inference Making Ability in Reading Comprehension in Down Syndrome

ERIC Educational Resources Information Center

Nash, Hannah; Heath, James

2011-01-01

Thirteen children and young adults with Down syndrome (DS) completed tests of language and reading and their performance was compared to that of three control groups. Reading comprehension was confirmed to be a specific deficit in DS and found to be strongly correlated with underlying language skills. Although reading comprehension was more…

Use of Speaker Intent and Grammatical Cues in Fast-Mapping by Adolescents with Down Syndrome

ERIC Educational Resources Information Center

McDuffie, Andrea S.; Sindberg, Heidi A.; Hesketh, Linda J.; Chapman, Robin S.

2007-01-01

Purpose: The authors asked whether adolescents with Down syndrome (DS) could fast-map novel nouns and verbs when word learning depended on using the speaker's pragmatic or syntactic cues. Compared with typically developing (TD) comparison children, the authors predicted that syntactic cues would prove harder for the group with DS to use and that…

Evaluation of the fit of zirconia copings fabricated by direct and indirect digital impression procedures.

PubMed

Lee, Bora; Oh, Kyung Chul; Haam, Daewon; Lee, Joon-Hee; Moon, Hong-Seok

2018-02-07

Intraoral scanners are effective for direct digital impression when dental restorations are fabricated using computer-aided design and computer-aided manufacturing (CAD-CAM); however, if the abutment tooth cannot be dried completely or the prepared margin is placed subgingivally, accurate digital images cannot always be guaranteed. The purpose of this in vitro study was to compare the internal and marginal discrepancies of zirconia copings fabricated directly using an intraoral scanner with those fabricated indirectly with impression scanning. Forty-five resin dies fabricated with a 3-dimensional (3D) printer were divided into 3 groups: direct scanning (DS), impression scanning (IMP), and lost-wax casting (LW). For the DS group, a resin die was scanned with an intraoral scanner (Trios; 3Shape), whereas for the IMP group, impressions made with polyether were scanned with a cast scanner (D700; 3Shape). The zirconia copings were fabricated in the same way in the DS and IMP groups. For the LW group, impressions were made in the same way as in the IMP group, and Ni-Cr alloy copings were fabricated using LW. The marginal and internal discrepancies of the copings were measured by cementing them onto resin dies, embedding them in acrylic resin, and sectioning them in a buccolingual direction. The cement layer was measured, and the Kruskal-Wallis test was used to detect significant differences (α=.05). A nonparametric Friedman test was also performed to compare the measurements of each group by location (α=.05). The mean marginal discrepancies in the DS, IMP, and LW groups were 18.1 ±9.8, 23.2 ±17.2, and 32.3 ±18.6 μm (mean ±standard deviation), respectively. The mean internal discrepancies of the DS, IMP, and LW groups in the axial area were 38.0 ±9.1, 47.0 ±16.3, and 36.5 ±15.8 μm, and those in the occlusal area were 36.7 ±16.9, 33.4 ±21.6, and 44.5 ±31.9 μm, respectively. No statistically significant differences were found in marginal or internal discrepancies among groups (P>.05). Within the limitations of this study, the zirconia copings fabricated with CAD-CAM using different digitization methods and Ni-Cr copings fabricated using the lost-wax technique and casting produced clinically acceptable marginal and internal discrepancies. No significant differences were found among the DS, IMP, and LW groups. Copyright © 2017 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.

Incidence of diverse dsRNA mycoviruses in Trichoderma spp. causing green mold disease of shiitake Lentinula edodes.

PubMed

Yun, Suk-Hyun; Lee, Song Hee; So, Kum-Kang; Kim, Jung-Mi; Kim, Dae-Hyuk

2016-09-22

A total of 315 fungal isolates causing green mold disease were collected from contaminated artificial logs and sawdust bags used for cultivating shiitake Lentinula edodes in Korea and were analyzed for the presence of double-stranded RNA (dsRNA). dsRNA, which was purified using dsRNA-specific chromatography and verified by dsRNA-specific RNaseIII digestion, was detected in 32 isolates. The molecular taxonomy of dsRNA-infected isolates indicated that all isolates belonged to the Trichoderma spp.. The number and size of dsRNAs varied among isolates and the band patterns could be categorized into 15 groups. Although there were seven dsRNA groups observed in multiple isolates, eight groups were found to occur in single isolates. The most common dsRNA group, group VI, which contained a band of 10 kb, occurred in 10 isolates encompassing three species of Trichoderma Partial sequence analysis of two selected dsRNA groups revealed a high degree of similarity to sequences of a RNA-dependent RNA polymerase, hypothetical protein, and polyprotein genes of other hypoviruses such as Macrophomina phaseolina hypovirus 1, Trichoderma hypovirus, and Fusarium graminearum hypovirus 2, respectively, indicating the occurrence of mycoviruses in Trichoderma spp.. Northern blot analysis suggested that many different mycoviruses, which have not been identified yet, exist in Trichoderma. © FEMS 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Adolescent pedometer protocols: examining reactivity, tampering and participants' perceptions.

PubMed

Scott, Joseph John; Morgan, Philip James; Plotnikoff, Ronald Cyril; Trost, Stewart Graeme; Lubans, David Revalds

2014-01-01

The aim of this study was to investigate adolescents' potential reactivity and tampering while wearing pedometers by comparing different monitoring protocols to accelerometer output. The sample included adolescents (N = 123, age range = 14-15 years) from three secondary schools in New South Wales, Australia. Schools were randomised to one of the three pedometer monitoring protocols: (i) daily sealed (DS) pedometer group, (ii) unsealed (US) pedometer group or (iii) weekly sealed (WS) pedometer group. Participants wore pedometers (Yamax Digi-Walker CW700, Yamax Corporation, Kumamoto City, Japan) and accelerometers (Actigraph GT3X+, Pensacola, USA) simultaneously for seven days. Repeated measures analysis of variance was used to examine potential reactivity. Bivariate correlations between step counts and accelerometer output were calculated to explore potential tampering. The correlation between accelerometer output and pedometer steps/day was strongest among participants in the WS group (r = 0.82, P ≤ 0.001), compared to the US (r = 0.63, P ≤ 0.001) and DS (r = 0.16, P = 0.324) groups. The DS (P ≤ 0.001) and US (P = 0.003), but not the WS (P = 0.891), groups showed evidence of reactivity. The results suggest that reactivity and tampering does occur in adolescents and contrary to existing research, pedometer monitoring protocols may influence participant behaviour.

Descriptive epidemiology and prior healthcare utilization of patients in the Spine Patient Outcomes Research Trial's (SPORT) three observational cohorts: disc herniation, spinal stenosis, and degenerative spondylolisthesis.

PubMed

Cummins, Justin; Lurie, Jon D; Tosteson, Tor D; Hanscom, Brett; Abdu, William A; Birkmeyer, Nancy J O; Herkowitz, Harry; Weinstein, James

2006-04-01

Prospective observational cohorts. To describe sociodemographic and clinical features, and nonoperative (medical) resource utilization before enrollment, in patients who are candidates for surgical intervention for intervertebral disc herniation (IDH), spinal stenosis (SpS), and degenerative spondylolisthesis (DS) according to SPORT criteria. Intervertebral disc herniation, spinal stenosis, and degenerative spondylolisthesis with stenosis are the three most common diagnoses of low back and leg symptoms for which surgery is performed. There is a paucity of descriptive literature examining large patient cohorts for the relationships among baseline characteristics and medical resource utilization with these three diagnoses. The Spine Patient Outcomes Research Trial (SPORT) conducts three randomized and three observational cohort studies of surgical and nonsurgical treatments for patients with IDH, SpS, and DS. Baseline data include demographic information, prior treatments received, and functional status measured by SF-36 and the Oswestry Disability Index (ODI-AAOS/Modems version). The data presented represent all 1,411 patients (743 IDH, 365 SpS, 303 DS) enrolled in the SPORT observational cohorts. Multiple logistic regression was used to generate independent predictors of utilization adjusted for sociodemographic variables, diagnosis, and duration of symptoms. The average age was 41 years for the IDH group, 64 years for the SpS group, and 66 years for the DS group. At enrollment, IDH patients presented with the most pain as reported on the SF-36 (BP 26.3 vs. 33.2 SpS and 33.8 DS) and were the most impaired (ODI 51 vs. 42.3 SpS and 41.5 DS). IDH patients used more chiropractic treatment (42% vs. 33% SpS and 26% DS), had more Emergency Department (ED) visits (21% vs. 7% SpS and 4% DS), and used more opiate analgesics (49% vs. 29% SpS and 27% DS). After adjusting for age, gender, diagnosis, education, race, duration of symptoms, and compensation, Medicaid patients used significantly more opiate analgesics (58% Medicaid vs. 41% no insurance, 42% employer, 33% Medicare, and 32% private) and had more ED visits compared with other insurance types (31% Medicaid vs. 22% no insurance, 16% employer, 3% Medicare, and 11% private). IDH patients appear to have differences in sociodemographics, resource utilization, and functional impairment when compared with the SpS/DS patients. In addition, the differences in resource utilization for Medicaid patients may reflect differences in access to care. The data provided from these observational cohorts will serve as an important comparison to the SPORT randomized cohorts in the future.

Prolonged Tp-e Interval in Down Syndrome Patients with Congenitally Normal Hearts.

PubMed

Kucuk, Mehmet; Karadeniz, Cem; Ozdemir, Rahmi; Meşe, Timur

2018-03-25

Heterogeneity of ventricular repolarization has been assessed by using the QT dispersion in Down syndrome (DS) patients with congenitally normal hearts. However, novel repolarization indexes, the Tp-e interval and Tp-e/QT ratio, have not previously been evaluated in these patients. The aim of this study was to evaluate the Tp-e interval and Tp-e/QT ratio in DS patients without congenital heart defects. Twelve-lead surface electrocardiograms of 160 DS patients and 110 age- and sex-matched healthy controls were used to evaluate and compare the Tp-e interval, Tp-e dispersion, and Tp-e/QT ratio. Heart rate, Tp-e interval, Tp-e dispersion, Tp-e/QT and Tp-e/QTc ratios were significantly higher in DS group than in the controls. Myocardial repolarization indexes in DS patients with congenitally normal hearts were found to be prolonged compared to those in normal controls. Further evaluation is warranted to reveal a relationship between prolonged repolarization indexes and arrhythmic events in these patients. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Predictive role of prenasal thickness and nasal bone for Down syndrome in the second trimester.

PubMed

Ozcan, Tulin; Özlü, Tülay; Allen, Julie; Peterson, Jeanne; Pressman, Eva K

2013-12-01

To assess the efficacy of prenasal thickness (PNT) and nasal bone (NB) for prediction of Down syndrome (DS) fetuses in the second trimester ultrasound examination. PNT was measured from stored two-dimensional fetal profile images taken at 15-23 weeks in 242 fetuses with normal karyotype (Group 1) and 24 fetuses with DS (Group 2). It was measured as the shortest distance from the anterior edge of the lowest part of the frontal bone to the skin. The efficacy of PNT, NB, PNT/NB and biparietal diameter (BPD)/NB was evaluated for prediction of DS. PNT values increased with gestational age in normal fetuses. PNT measurement was ≥95th percentile in 54.2% (13/24) of the DS cases and 2.9% of the normal cases. Receiver operator curve analysis showed that PNT/NB ratio had the best area under the curve with a detection rate of 80% for a false positive rate of 5% at a cut-off value of 0.76. PNT is increased in fetuses with DS as compared to normal fetuses. PNT/NB≥0.76 in the second trimester is a better predictor of DS than the use of PNT or NB alone. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Use of preoperative CHA2 DS2 -VASc score to predict the risk of atrial fibrillation after cardiothoracic surgery: a nested case-control study from the Atrial Fibrillation Suppression Trials (AFIST) I, II, and III.

PubMed

Baker, William L; Coleman, Craig I; White, C Michael; Kluger, Jeffrey

2013-05-01

To evaluate whether the preoperative CHA2 DS2 -VASc score predicts the risk of atrial fibrillation (AF) after cardiothoracic surgery (CTS). Retrospective, nested case-control study. A total of 560 patients undergoing coronary artery bypass grafting and/or valvular surgery from the Atrial Fibrillation Suppression Trials I, II, and III. All variables showing a univariate association (p≤0.20) with AF occurrence were entered into a backward stepwise multivariate logistic regression analysis to control for potential confounders and to calculate adjusted odds ratios (AORs) with 95% confidence intervals (CIs). The population was age 67.8 ± 8.6 (mean ± SD) years and 77.1% male, with CHA2 DS2 -VASc scores of 0-1 (low) in 34 patients (6.1%), 2-3 (medium) in 261 patients (46.6%), and more than 3 (high) in 265 patients (47.3%). Post-CTS AF occurred in 177 patients (31.6%), with 27%, 23%, and 41% in the low-, medium-, and high-CHA2 DS2 -VASc score groups, respectively. The high-score group had a 2.3-fold increased odds of developing AF versus the medium-score group (p<0.0001). The differences between the high- and medium-score groups when each group was compared with the low-score group were not statistically significant. On the multivariate logistic regression analysis, CHA2 DS2 -VASc score was associated with development of AF (AOR 1.20, 95% CI 1.06-1.36). Increasing CHA2 DS2 -VASc score was an independent predictor for the development of post-CTS AF, with patients in the high-score group having the highest overall incidence. © 2013 Pharmacotherapy Publications, Inc.

Clinical evaluation of cobas core anti-dsDNA EIA quant.

PubMed

González, Concepción; Guevara, Paloma; García-Berrocal, Belén; Alejandro Navajo, José; Manuel González-Buitrago, José

2004-01-01

The measurement of antibodies to double-stranded DNA (anti-dsDNA) is a useful tool for the diagnosis and monitoring of patients with connective tissue diseases, particularly systemic lupus erythematosus (SLE). The aim of the present study was to compare a new enzyme-linked immunosorbent assay (ELISA) for the measurement of anti-dsDNA antibodies, which uses purified double-stranded plasmid DNA as the antigen (anti-dsDNA EIA Quant; Roche Diagnostics, Mannheim, Germany), with an established ELISA. The clinical usefulness of this new ELISA was also assessed. We measured anti-dsDNA antibodies in 398 serum samples that were divided into four groups: 1). routine samples sent to our laboratory for an antinuclear antibody (ANA) test (n=229), 2). samples from blood donors (n=74), 3). samples from patients with SLE (n=48), and 4) samples from patients with other autoimmune diseases (n=47). The methods used were the Cobas Core Anti-dsDNA EIA Quant (Roche Diagnostics, Mannheim, Germany) and the Anti-dsDNA test (Gull Diagnostics, Bois d'Arcy, France). We obtained a kappa index and Spearman correlation coefficient in the comparative study, and sensitivity, specificity, predictive values, and likelihood ratios in the clinical study. The results obtained show a good agreement between the two methods in both the qualitative results (kappa=0.91) and the quantitative data (r=0.854). The best accuracy, predictive values, likelihood ratios, and correlation with active disease were obtained with the Roche anti-dsDNA assay. Copyright 2004 Wiley-Liss, Inc.

Semantic memory and depressive symptoms in patients with subjective cognitive decline, mild cognitive impairment, and Alzheimer's disease.

PubMed

Lehrner, J; Coutinho, G; Mattos, P; Moser, D; Pflüger, M; Gleiss, A; Auff, E; Dal-Bianco, P; Pusswald, G; Stögmann, E

2017-07-01

Semantic memory may be impaired in clinically recognized states of cognitive impairment. We investigated the relationship between semantic memory and depressive symptoms (DS) in patients with cognitive impairment. 323 cognitively healthy controls and 848 patients with subjective cognitive decline (SCD), mild cognitive impairment (MCI), and Alzheimer's disease (AD) dementia were included. Semantic knowledge for famous faces, world capitals, and word vocabulary was investigated. Compared to healthy controls, we found a statistically significant difference of semantic knowledge in the MCI groups and the AD group, respectively. Results of the SCD group were mixed. However, two of the three semantic memory measures (world capitals and word vocabulary) showed a significant association with DS. We found a difference in semantic memory performance in MCI and AD as well as an association with DS. Results suggest that the difference in semantic memory is due to a storage loss rather than to a retrieval problem.

Foot Structure in Boys with Down Syndrome

PubMed Central

Nowak, Krzysztof; Omorczyk, Jarosław; Ambroży, Tadeusz; Nosiadek, Leszek

2017-01-01

Introduction and Aim Down syndrome (DS) is associated with numerous developmental abnormalities, some of which cause dysfunctions of the posture and the locomotor system. The analysis of selected features of the foot structure in boys with DS versus their peers without developmental disorders is done. Materials and Methods The podoscopic examination was performed on 30 boys with DS aged 14-15 years. A control group consisted of 30 age- and gender-matched peers without DS. Results The feet of boys with DS are flatter compared to their healthy peers. The hallux valgus angle is not the most important feature differentiating the shape of the foot in the boys with DS and their healthy peers. In terms of the V toe setting, healthy boys had poorer results. Conclusions Specialized therapeutic treatment in individuals with DS should involve exercises to increase the muscle strength around the foot joints, enhancing the stabilization in the joints and proprioception. Introducing orthotics and proper footwear is also important. It is also necessary to monitor the state of the foot in order to modify undertaken therapies. PMID:28904967

Age-dependent oxidative stress-induced DNA damage in Down's lymphocytes.

PubMed

Zana, Marianna; Szécsényi, Anita; Czibula, Agnes; Bjelik, Annamária; Juhász, Anna; Rimanóczy, Agnes; Szabó, Krisztina; Vetró, Agnes; Szucs, Péter; Várkonyi, Agnes; Pákáski, Magdolna; Boda, Krisztina; Raskó, István; Janka, Zoltán; Kálmán, János

2006-06-30

The aim of the present study was to investigate the oxidative status of lymphocytes from children (n=7) and adults (n=18) with Down's syndrome (DS). The basal oxidative condition, the vulnerability to in vitro hydrogen peroxide exposure, and the repair capacity were measured by means of the damage-specific alkaline comet assay. Significantly and age-independently elevated numbers of single strand breaks and oxidized bases (pyrimidines and purines) were found in the nuclear DNA of the lymphocytes in the DS group in the basal condition. These results may support the role of an increased level of endogenous oxidative stress in DS and are similar to those previously demonstrated in Alzheimer's disease. In the in vitro oxidative stress-induced state, a markedly higher extent of DNA damage was observed in DS children as compared with age- and gender-matched healthy controls, suggesting that young trisomic lymphocytes are more sensitive to oxidative stress than normal ones. However, the repair ability itself was not found to be deteriorated in either DS children or DS adults.

Oxidative stress and metabolism at rest and during exercise in persons with Down syndrome.

PubMed

Flore, Patrice; Bricout, Véronique-A; van Biesen, Debbie; Guinot, Michel; Laporte, François; Pépin, Jean-Louis; Eberhard, Yves; Favre-Juvin, Anne; Wuyam, Bernard; van de Vliet, Peter; Faure, Patrice

2008-02-01

Down syndrome (DS) is a risk factor for metabolic syndrome and cardiovascular disease. The greater oxidative stress described in DS can increase this risk owing to its potential deleterious effects on insulin sensitivity. We hypothesized that metabolic syndrome or its markers, at rest and during exercise, are more pronounced in young adults with DS. The study design is that of a controlled study. Thirteen physically active young adults with DS, after overnight polysomnography, plasma-lipid profile, and insulin-resistance [Homeostasis Model Assessment Insulin Resistance (HOMA-IR)] assessments, underwent a submaximal progressive treadmill exercise (10 min at 30 and 50%, and 20 min at 75% of V O2max), allowing for maximal fat-oxidation rate and blood-oxidative stress determinations. They were compared with 15 healthy control participants (C). V O2max of DS participants was lower than that of C (60.8+/-2.4 versus 44.4+/-3.3 ml/kg/min; P<0.001) but was close to the predicted value (95+/-6%). In DS participants, as expected, oxidative stress was greater than in C (+15%; P<0.001) at rest and all through the exercise protocol. Although a greater fat mass (DS: 19.9+/-1.3%; C: 13.5+/-0.9%; P<0.001), and a lower insulin sensitivity (HOMA-IR in DS: 1.09+/-0.16; in C: 0.64+/-0.13; P<0.05) was observed for DS participants, a metabolic syndrome could not be shown. Maximal fat-oxidation rate was lower in DS participants (394.2+/-69.9 versus 486.1+/-134.8 mg/min in C; P<0.01), but it was in the normal range. Despite greater oxidative stress and lower insulin sensitivity, the DS group involved in our study did not display clear metabolic abnormalities. The young age and lifestyle of this group might, partially, have accounted for this apparently healthy metabolic status.

Talking about self and other: emergence of an internal state lexicon in young children with Down syndrome.

PubMed

Beeghly, M; Cicchetti, D

1997-01-01

The ability to talk about the internal states (IS) of self and other is an age-typical development of early childhood that is thought to reflect young children's emergent self-other understanding. This study examined the emergence of an IS lexicon in a cross-sectional sample of young children with Down syndrome (DS) and a cognitively and demographically comparable group of normally developing (ND) children. Children's IS lexicons were derived from transcripts of their spontaneous utterances during two laboratory contexts: a mother-child emotions picture book task and semistructured play. Children with DS produced significantly fewer IS words and fewer IS word types than their MA-matched counterparts. Controlling for corpus size, children with DS also were less likely to attribute internal states to themselves and were more context bound in their use of IS language. In addition, children with DS also differed from ND children in the semantic content of their IS language, with proportionately higher rates of affective words and lower rates for words about volition ability, and cognition. For both the DS and ND groups, individual differences in IS language production were significantly related to general expressive language skills. However, dissociations were observed for the relation between children's IS word production and nonverbal symbolic play skills in the two groups. These findings suggest some degree of disorganization at the interface among symbolic domains for children with DS. Because IS language is critical to the regulation of social interaction and an early index of self-other differentiation and understanding, children with DS may be at risk for later compromises in self-organization.

Neuropsychological late effects of treatment for acute leukemia in children with Down syndrome.

PubMed

Roncadin, Caroline; Hitzler, Johann; Downie, Andrea; Montour-Proulx, Isabelle; Alyman, Cheryl; Cairney, Elizabeth; Spiegler, Brenda J

2015-05-01

Children with Down syndrome (DS) have an elevated risk of developing acute leukemia, but little is known about treatment-related neuropsychological morbidity because they are systematically excluded from research in this area. The current study investigated neuropsychological outcomes in children with DS treated for acute lymphoblastic leukemia (ALL) or acute myeloid leukemia (AML) compared to children with DS with no history of cancer. Participants were 4 to 17 years of age at testing and were administered measures of intelligence, academic achievement, language, visual-motor and fine-motor skills, and adaptive function. Patients had been off treatment for at least 2 years. The AML group (N = 12) had significantly lower verbal intelligence and receptive vocabulary compared to controls (N = 21). By contrast, the ALL group (N = 14) performed significantly worse than controls on measures of verbal intelligence, spelling, receptive and expressive vocabulary, visual-motor skills, and adaptive function. Patients with DS treated for AML may have specific post-treatment morbidity in verbal function, whereas those treated for ALL have broader morbidity affecting multiple neuropsychological domains and overall adaptive function. We hypothesize that the broader impairment profile of ALL survivors may be related to a combination of the longer duration of central nervous system-directed treatment for ALL compared to AML and the concomitant limited access to intervention opportunities during active treatment. © 2014 Wiley Periodicals, Inc.

Expression of Activating KIR2DS2 and KIR2DS4 genes following hematopoietic cell transplant (HCT): relevance to cytomegalovirus (CMV) infection

PubMed Central

Gallez-Hawkins, Ghislaine M.; Franck, Anne E.; Li, Xiuli; Thao, Lia; Oki, Arisa; Gendzekhadze, Ketevan; Dagis, Andrew; Palmer, Joycelynne; Nakamura, Ryotaro; Forman, Stephen J.; Senitzer, David; Zaia, John A.

2011-01-01

The important role of activating Killer Immunoglobulin-like Receptors (aKIR) in protecting against cytomegalovirus (CMV) reactivation has been described previously in hematopoietic cell transplantation (HCT). More specifically, the presence of multiple aKIR and the presence of at least KIR2DS2 and KIR2DS4 in the donor genotype identified a group of HCT patients that were at low risk for CMV reactivation. However, CMV infection still occurs in patients with KIR protective genotype and the question was raised as to whether this was due to the lack of KIR expression. In this report, the expression of KIR2DS2 and 2DS4 gene, as measured by mRNA-based Q-PCR both in the donor cells and in the HCT recipient cells was studied relative to CMV reactivation. In the control samples from healthy HCT donors, the median range of for KIR2DS2 and KIR2DS4 expression was low with 35% considered null-expressers. Interestingly, KIR2DS2 and KIR2DS4 expression was elevated after HCT when compared to donor expression prior to transplant, and significantly elevated in the CMV viremic (V) compared to non-viremic (NV) HCT recipients. CMV seropositivity of donors was not associated with aKIR expression, and donor null-expression in those with KIR2DS2 or KIR2DS4 genotype did not predict for CMV reactivation in the recipient. After controlling for other transplant factors that included donor type (sibling or unrelated), transplant source -bone marrow (BM) or peripheral blood stem cells (PB) and acute GVHD grade, the result of the regression analysis of elevated KIR gene expression was found to be associated for both KIR2DS2 and KIR2DS4, with seven fold increase in risk for CMV reactivation. We speculate that the elevated aKIR expression in CMV viremic HCT recipients is either coincidental with factors that activate CMV or is initiated by CMV or cellular processes responsive to such CMV infection reactivation. PMID:21596150

Comparison of Immediate With Delayed Stenting Using the Minimalist Immediate Mechanical Intervention Approach in Acute ST-Segment-Elevation Myocardial Infarction: The MIMI Study.

PubMed

Belle, Loic; Motreff, Pascal; Mangin, Lionel; Rangé, Grégoire; Marcaggi, Xavier; Marie, Antoine; Ferrier, Nadine; Dubreuil, Olivier; Zemour, Gilles; Souteyrand, Géraud; Caussin, Christophe; Amabile, Nicolas; Isaaz, Karl; Dauphin, Raphael; Koning, René; Robin, Christophe; Faurie, Benjamin; Bonello, Laurent; Champin, Stanislas; Delhaye, Cédric; Cuilleret, François; Mewton, Nathan; Genty, Céline; Viallon, Magalie; Bosson, Jean Luc; Croisille, Pierre

2016-03-01

Delayed stent implantation after restoration of normal epicardial flow by a minimalist immediate mechanical intervention aims to decrease the rate of distal embolization and impaired myocardial reperfusion after percutaneous coronary intervention. We sought to confirm whether a delayed stenting (DS) approach (24-48 hours) improves myocardial reperfusion, versus immediate stenting, in patients with acute ST-segment-elevation myocardial infarction undergoing primary percutaneous coronary intervention. In the prospective, randomized, open-label minimalist immediate mechanical intervention (MIMI) trial, patients (n=140) with ST-segment-elevation myocardial infarction ≤12 hours were randomized to immediate stenting (n=73) or DS (n=67) after Thrombolysis In Myocardial Infarction 3 flow restoration by thrombus aspiration. Patients in the DS group underwent a second coronary arteriography for stent implantation a median of 36 hours (interquartile range 29-46) after randomization. The primary end point was microvascular obstruction (% left ventricular mass) on cardiac magnetic resonance imaging performed 5 days (interquartile range 4-6) after the first procedure. There was a nonsignificant trend toward lower microvascular obstruction in the immediate stenting group compared with DS group (1.88% versus 3.96%; P=0.051), which became significant after adjustment for the area at risk (P=0.049). Median infarct weight, left ventricular ejection fraction, and infarct size did not differ between groups. No difference in 6-month outcomes was apparent for the rate of major cardiovascular and cerebral events. The present findings do not support a strategy of DS versus immediate stenting in patients with ST-segment-elevation infarction undergoing primary percutaneous coronary intervention and even suggested a deleterious effect of DS on microvascular obstruction size. URL: http://www.clinicaltrials.gov. Unique identifier: NCT01360242. © 2016 American Heart Association, Inc.

Effects of Combining Running and Practical Duration Stretching on Proprioceptive Skills of National Sprinters.

PubMed

Romero-Franco, Natalia; Párraga-Montilla, Juan Antonio; Molina-Flores, Enrique M; Jiménez-Reyes, Pedro

2018-06-01

Romero-Franco, N, Párraga-Montilla, JA, Molina-Flores, EM, and Jiménez-Reyes, P. Effects of combining running and practical duration stretching on proprioceptive skills of national sprinters. J Strength Cond Res XX(X): 000-000, 2018-Practical duration stretching after aerobic activities is a recommended component of the first part of warm-up because of its effects on performance. However, its effects on proprioceptive skills are unknown. This study aimed to analyze the effects of running and practical duration static stretching (SS) and dynamic stretching (DS) on postural balance and the joint position sense (JPS) of national sprinters. Thirty-two national sprinters were randomly classified into a SS group (n = 11), DS group (n = 11), or control group (n = 10). Static stretching performed 5 minutes of running and short-duration (20 seconds) static stretches; DS performed 5 minutes of running and short-duration dynamic (20 seconds) stretches; and the control group performed 5 minutes of running. Before and after the intervention, unipedal static postural balance and knee JPS were evaluated. Static stretching exhibited a more centralized center of pressure in the medial-lateral plane for unipedal static postural balance in right-leg support after stretching (p = 0.005, d = 1.24), whereas DS showed values further from the center after stretching for the same unipedal support compared with baseline (p = 0.042, d = 0.49), and the control group remained stable (p > 0.05). Joint position sense did not show significant differences in any group (p > 0.05). In conclusion, combining running and practical duration SS may be beneficial for right-leg postural stabilization, whereas DS may be partly and slightly deleterious. Both SS and DS combined with running and running alone have neutral effects on knee JPS. Sports professionals should consider running and practical duration SS as part of the warm-up of sprinters to partly improve unipedal static postural balance.

Infectious Complications in Living-Donor Kidney Transplant Recipients Undergoing Multi-Modal Desensitization

PubMed Central

Shafique, Michael; Lobo, Peter I.; Sawyer, Robert G.; Keith, Douglas S.; Brayman, Kenneth L.; Agarwal, Avinash

2014-01-01

Abstract Background: Pre-existing humoral barriers challenge the transplantation of living donor kidneys (LDK) into highly sensitized ABO- and human leukocyte antigen (HLA)-incompatible recipients. Conditioning these LDK recipients' immune systems is required before they undergo transplantation. We hypothesized that medical desensitization would yield higher post-transplantation rates of infection. Methods: We conducted a study in which matched controls consisting of non-desensitized (NDS) LDK recipients were compared with desensitized (DS) receipients. Pre-transplantation desensitization included treatment with rituximab and mycophenolate mofetil followed by intravenous immunoglobulin (IVIg) and plasmapheresis. All participants in the study underwent induction therapy and maintenance immunosuppression. Primary outcomes included infection (opportunistic, local, systemic) within 12 mo after transplantation. Results: Twenty-five patients underwent desensitization and LDK transplantation. Graft survival in the DS and NDS groups of patients was 96% and 98%, respectively. The mean 3- and 12-mo serum creatinine concentrations in the DS and NDS groups were 1.1±0.2 mg/dL and 1.2±0.3 mg/dL and 0.95±0.4mg/dL and 0.73±0.8mg/dL (p=0.3 and p=0.01), respectively. Thirty-six percent of the patients in the DS group had one or more infections, vs. 28% of those in the NDS group (p=0.1). No difference was observed in the frequency of opportunistic or systemic infections in the two groups. Local infections were statistically significantly more frequent in the DS group (60% vs. 30%, respectively; p=0.02). Conclusion: Pre-operative desensitization in highly sensitized LDK recipients is followed by a similar incidence of opportunistic and systemic infections as in NDS patients. Local infections were significantly more frequent in the DS than in the NDS patients in the study. With careful monitoring of infectious complications, pre-transplant desensitization permits LDK transplantation into highly sensitized patients. PMID:24773230

Infectious complications in living-donor kidney transplant recipients undergoing multi-modal desensitization.

PubMed

Turza, Kristin C; Shafique, Michael; Lobo, Peter I; Sawyer, Robert G; Keith, Douglas S; Brayman, Kenneth L; Agarwal, Avinash

2014-06-01

Pre-existing humoral barriers challenge the transplantation of living donor kidneys (LDK) into highly sensitized ABO- and human leukocyte antigen (HLA)-incompatible recipients. Conditioning these LDK recipients' immune systems is required before they undergo transplantation. We hypothesized that medical desensitization would yield higher post-transplantation rates of infection. We conducted a study in which matched controls consisting of non-desensitized (NDS) LDK recipients were compared with desensitized (DS) receipients. Pre-transplantation desensitization included treatment with rituximab and mycophenolate mofetil followed by intravenous immunoglobulin (IVIg) and plasmapheresis. All participants in the study underwent induction therapy and maintenance immunosuppression. Primary outcomes included infection (opportunistic, local, systemic) within 12 mo after transplantation. Twenty-five patients underwent desensitization and LDK transplantation. Graft survival in the DS and NDS groups of patients was 96% and 98%, respectively. The mean 3- and 12-mo serum creatinine concentrations in the DS and NDS groups were 1.1±0.2 mg/dL and 1.2±0.3 mg/dL and 0.95±0.4 mg/dL and 0.73±0.8 mg/dL (p=0.3 and p=0.01), respectively. Thirty-six percent of the patients in the DS group had one or more infections, vs. 28% of those in the NDS group (p=0.1). No difference was observed in the frequency of opportunistic or systemic infections in the two groups. Local infections were statistically significantly more frequent in the DS group (60% vs. 30%, respectively; p=0.02). Pre-operative desensitization in highly sensitized LDK recipients is followed by a similar incidence of opportunistic and systemic infections as in NDS patients. Local infections were significantly more frequent in the DS than in the NDS patients in the study. With careful monitoring of infectious complications, pre-transplant desensitization permits LDK transplantation into highly sensitized patients.

Implicit attentional bias for facial emotion in dissociative seizures: Additional evidence.

PubMed

Pick, Susannah; Mellers, John D C; Goldstein, Laura H

2018-03-01

This study sought to extend knowledge about the previously reported preconscious attentional bias (AB) for facial emotion in patients with dissociative seizures (DS) by exploring whether the finding could be replicated, while controlling for concurrent anxiety, depression, and potentially relevant cognitive impairments. Patients diagnosed with DS (n=38) were compared with healthy controls (n=43) on a pictorial emotional Stroop test, in which backwardly masked emotional faces (angry, happy, neutral) were processed implicitly. The group with DS displayed a significantly greater AB to facial emotion relative to controls; however, the bias was not specific to negative or positive emotions. The group effect could not be explained by performance on standardized cognitive tests or self-reported depression/anxiety. The study provides additional evidence of a disproportionate and automatic allocation of attention to facial affect in patients with DS, including both positive and negative facial expressions. Such a tendency could act as a predisposing factor for developing DS initially, or may contribute to triggering individuals' seizures on an ongoing basis. Psychological interventions such as Cognitive Behavioral Therapy (CBT) or AB modification might be suitable approaches to target this bias in clinical practice. Copyright © 2018 Elsevier Inc. All rights reserved.

Assessment of the type D personality construct in the Korean population: a validation study of the Korean DS14.

PubMed

Lim, Hong Euy; Lee, Moon-Soo; Ko, Young-Hoon; Park, Young-Min; Joe, Sook-Haeng; Kim, Yong-Ku; Han, Changsu; Lee, Hwa-Young; Pedersen, Susanne S; Denollet, Johan

2011-01-01

This study aimed to develop a Korean version of the Type D Personality Scale-14 (DS14) and evaluate the psychiatric symptomatology of Korean cardiac patients with Type D personality. Healthy control (n = 954), patients with a coronary heart disease (n = 111) and patients with hypertension and no heart disease (n = 292) were recruited. All three groups completed DS14, the Eysenck Personality Questionnaire (EPQ), the state subscale of Spielberger State and Trait Anxiety Inventory (STAI-S), the Center for Epidemiologic Studies Short Depression Scale (CESD), and the General Health Questionnaire (GHQ). The Korean DS14 was internally consistent and stable over time. 27% of the subjects were classified as Type D. Type D individuals had significantly higher mean scores on the STAI-S, CESD, and GHQ compared to non-Type D subjects in each group. The Korean DS14 was a valid and reliable tool for identifying Type D personality. The general population and cardiovascular patients with Type D personality showed higher rate of depression, anxiety and psychological distress regarding their health. Therefore, identifying Type D personality is important in clinical research and practice in chronic medical disorders, especially cardiovascular disease, in Korea.

Depressive symptoms in relation to overall survival in people with head and neck cancer: a longitudinal cohort study.

PubMed

Jansen, Femke; Verdonck-de Leeuw, Irma M; Cuijpers, Pim; Leemans, C René; Waterboer, Tim; Pawlita, Michael; Penfold, Chris; Thomas, Steven J; Waylen, Andrea; Ness, Andrew R

2018-06-21

To investigated the relation between pre-treatment depressive symptoms (DS) and the course of DS during the first year after cancer diagnosis, and overall survival among people with head and neck cancer (HNC). Data from the Head and Neck 5000 prospective clinical cohort study were used. DS were measured using the Hospital Anxiety and Depression Scale (HADS) pre-treatment, at 4 and 12 months follow-up. Also socio-demographic, clinical, lifestyle and mortality data were collected. The association between pre-treatment DS (HADS-depression>7) and course (never DS, recovered from DS, or persistent/recurrent/late DS at 12 months follow-up), and survival was investigated using Cox regression. Unadjusted and adjusted analyses were performed. In total, 384 of the 2,144 persons (18%) reported pre-treatment DS. Regarding DS course, 63% never had DS, 16% recovered, and 20% had persistent/recurrent/late DS. People with pre-treatment DS had a higher risk of earlier death than people without DS (Hazard Ratio (HR) =1.65; 95% confidence interval (CI) 1.33-2.05), but this decreased after correcting for socio-demographic, clinical, and lifestyle-related factors (HR=1.21; 95%CI 0.97-1.52). Regarding the course of DS, people with persistent/recurrent/late DS had a higher risk of earlier death (HR=2.04; 95%CI 1.36-3.05), while people who recovered had a comparable risk (HR=1.12; 95%CI 0.66-1.90) as the reference group who never experienced DS. After correcting for socio-demographic and clinical factors, people with persistent/recurrent/late DS still had a higher risk of earlier death (HR=1.66; 95%CI 1.09-2.53). Pre-treatment DS and persistent/recurrent/late DS were associated with worse survival among people with HNC. This article is protected by copyright. All rights reserved.

Increasing the number of inter-arch contacts improves mastication in adults with Down syndrome: a prospective controlled trial.

PubMed

Hennequin, Martine; Mazille, Marie-Noëlle; Cousson, Pierre-Yves; Nicolas, Emmanuel

2015-06-01

Feeding difficulties due to their condition have been widely described for babies, children and adults with Down syndrome (DS). A previous study demonstrated that, compared with wearing a placebo appliance, wearing an occlusal appliance increased inter-arch dental contacts, improved the oral health status of adults with DS and normalised their mandibular rest position. This longitudinal prospective controlled trial aimed to evaluate whether increasing inter-arch contacts in adults with DS would lead to improved masticatory efficiency. Fourteen subjects with DS (mean age±SD: 28.5±9.3years) and twelve controls without DS (24.6±1.0years) were video recorded while chewing samples of carrot and peanuts with and without an oral appliance that was designed to equalise the number of posterior functional units (PFUs) in both groups. Three parameters were collected during mastication for 15cycles and until swallowing: food refusals, food bolus granulometry (D50) and kinematic parameters of the chewing process (number of cycles, chewing duration and cycle frequency within the chewing sequence). In the DS group, increasing the number of PFUs led to a decrease in bolus particle size, to fewer masticatory cycles needed to produce a bolus ready for swallowing and to a decrease in the occurrence of food refusal, while mean chewing frequency did not vary. In the control group, bolus granulometry and chewing time increased with appliance wear while mean chewing frequency decreased. These changes clearly indicate a functional improvement in subjects with DS. This study also demonstrated a causal relationship between the number of functional pairs of posterior teeth and improved mastication. Any evaluation of feeding behaviour in persons with DS should consider inter-arch dental contacts as an explicative variable for feeding problems and their nutritional and respiratory consequences. Copyright © 2015 Elsevier Inc. All rights reserved.

Euthyroid submedian free T4 and subclinical hypothyroidism may have a detrimental clinical effect in Down syndrome.

PubMed

Tenenbaum, Ariel; Lebel, Eyal; Malkiel, Sarah; Kastiel, Yael; Abulibdeh, Abdulsalam; Zangen, David Haim

2012-01-01

Aberrant thyroid function is highly prevalent in Down syndrome (DS). We aimed to find whether subclinical hypothyroidism (SCH) or low-normal free T4 (FT4) are associated with a detrimental clinical outcome in untreated DS patients. 157 patients assessed at Hadassah Down Syndrome Center between 2004 and 2010 by comprehensive clinical evaluation and tests for hemoglobin, FT4 and thyroid-stimulating hormone (TSH) were subdivided into subgroups including: clinical hypothyroidism, SCH, euthyroid submedian or supramedian FT4, and alternatively for euthyroidism and TSH levels (submedian or supramedian TSH). Hypothyroidism was found in 21.7% and SCH in another 14.9% of the patients. Moderate/severe hypotonia were more frequent among SCH patients compared to euthyroid patients (52.6 vs. 16.4%, p = 0.002). Patient's hemoglobin levels were lower in the euthyroid submedian FT4 group compared to the euthyroid supramedian FT4 group (10.9 vs. 0% below the normal range, p = 0.001). Interestingly, FT4 levels correlated negatively with increasing age among euthyroid DS patients (Pearson's correlation coefficient = -0.324, p = 0.009). SCH and euthyroid submedian FT4 may have significant clinical sequelae, such as hypotonia and anemia. Interventional studies with L-thyroxine replacement may be indicated in these subpopulations. Our finding that FT4 levels decrease with age in DS (contrasting the general population trend) may indicate redefining the normal FT4 levels range in DS. Copyright © 2012 S. Karger AG, Basel.

Long working hours, job satisfaction, and depressive symptoms: a community-based cross-sectional study among Japanese employees in small- and medium-scale businesses.

PubMed

Nakata, Akinori

2017-08-08

Although long working hours have been suspected to be a risk factor for depressive symptoms (DS), it is not well understood the conditions under which long working hours are associated with it. This study investigated the moderating effect of job satisfaction on the relationship between working hours and DS. A total of 2,375 full-time non-shift day workers (73% men), aged 18-79 (mean 45) years, in 296 small- and medium-scale businesses were surveyed using a self-administered questionnaire evaluating working hours, job satisfaction, DS and covariates. The Center for Epidemiologic Studies Depression scale (CES-D) was used to assess DS. Risk of DS (CES-D ≥ 16) by working hours, job satisfaction, and both combined was estimated by multivariable logistic regression analysis. Compared to participants working 6-8 hrs/day, those working 12+ hrs/day had significantly higher odds of DS (adjusted odds ratio [aOR] 1.49), while participants with low satisfaction, as opposed to high satisfaction, had increased odds of DS (aOR 1.81). Furthermore, compared to those working 6-8 hrs/day with high satisfaction (reference group), participants working 6-8 hrs/day, > 8 to 10 hrs/day, and > 10 hrs/day combined with low satisfaction had dose-response increase of DS (aOR 1.48, 2.21 and 2.31, respectively, p < 0.05), whereas those working > 8 to 10 hrs/day and > 10 hrs/day combined with high satisfaction had not (aOR 0.93 and 1.39, respectively, p > 0.10). The results suggest that long working hours are associated with increased risk of DS only under reduced job satisfaction condition, which highlights the importance of improving job satisfaction, particularly among those working excessive hours.

Assessment of cardiac function in absence of congenital and acquired heart disease in patients with Down syndrome.

PubMed

Balli, Sevket; Yucel, Ilker Kemal; Kibar, Ayse Esin; Ece, Ibrahim; Dalkiran, Eylem Sen; Candan, Sukru

2016-11-01

Extra genetic material in patients with Down syndrome (DS) may affect the function of any organ system. We evaluated cardiac functions using conventional tissue Doppler and two-dimensional speckle tracking echocardiography in patients with DS in the absence of congenital and acquired heart disease in patients. A total of 115 patients with DS between 6 and 13 years of age with clinically and anatomically normal heart and 55 healthy children were included in this cross-sectional study. DS was diagnosed by a karyotype test. Patients with mosaic type were not included in this study. Systolic and diastolic functions were evaluated by echocardiography. Pulsed waved Doppler transmitral early/late inflow velocity (E/A), tissue Doppler mitral annular early/late diastolic peak velocity (Ea/Aa), transtricuspid E/A and tricuspid valve annulus Ea/Aa, pulmonary venous Doppler systolic/diastolic (S/D) wave ratio were lower in patients with Down syndrome than in the control group (P=0.04, P=0.001, P<0.05, P<0.001, P<0.001, respectively). Mitral and tricuspid annular Ea were lower in patients with DS (P<0.001). The right and left ventricular myocardial performance indexes were higher in patients with DS than in the controls (P<0.01). They had significantly higher left ventricular mass, ejection fraction, the mitral annular plane systolic excursion values. However, the Down syndrome group compared with the controls had a lower strain values examined by two-dimensional longitudinal speckle-tracking strain echocardiography. These findings suggest conventional tissue Doppler and two-dimensional longitudinal speckletracking strain echocardiography were useful methods of investigating ventricular function and identifying a higher incidence of biventricular dysfunction in patients with Down syndrome compared with the healthy controls.

Profiles of children with Down syndrome who meet screening criteria for autism spectrum disorder (ASD): a comparison with children diagnosed with ASD attending specialist schools.

PubMed

Warner, G; Howlin, P; Salomone, E; Moss, J; Charman, T

2017-01-01

Recent research suggests that around 16% to 18% of children with Down syndrome (DS) also meet diagnostic criteria for autism spectrum disorder (ASD). However, there are indications that profiles of autism symptoms in this group may vary from those typically described in children with ASD. Rates of autism symptoms and emotional and behavioural problems among children with DS who screened positive for ASD on the Social Communication Questionnaire (SCQ) (n = 183) were compared with a group of children with clinical diagnoses of ASD (n = 189) attending specialist schools in the UK. Groups were matched for age and approximate language level (use of phrase speech). Profiles of autistic symptoms in the two groups were generally similar, but children with DS meeting ASD cut-off on the SCQ tended to show fewer problems in reciprocal social interaction than those in the ASD group. They also showed slightly lower rates of emotional and peer-related problems. The results mostly confirm findings from a previous study in which the original validation sample for the SCQ was used as a comparison group. Findings suggest that children with DS who meet screening criteria for ASD show similar profiles of communication and repetitive behaviours to those typically described in autism. However, they tend to have relatively milder social difficulties. It is important that clinicians are aware of this difference if children with DS and ASD are to be correctly diagnosed and eligible for specialist intervention and education services. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion.

PubMed

Rakonjac, Marijana; Cuturilo, Goran; Stevanovic, Milena; Jelicic, Ljiljana; Subotic, Misko; Jovanovic, Ida; Drakulic, Danijela

2016-08-01

22q11.2DS is the most common microdeletion syndrome in humans, usually associated with speech and language delay (SLD). Approximately 75% of children with 22q11.2 microdeletion have congenital heart malformations (CHM) which after infant open-heart surgery might lead to SLD. The purpose of this study was to determine whether factors associated with microdeletion contribute to SLD in children with 22q11.2DS. We compared speech and language abilities of two groups of school-aged children: those with 22q11.2 microdeletion (E1) and those with the phenotype resembling 22q11.2DS but without the microdeletion (E2). An age-matched group of typically developing children was also tested. The obtained results revealed that children from group E1 have lower level of speech and language abilities compared to children from group E2 and control group. Additionally, mild to moderate SLD was detected in children from group E2 compared to children from the control group. The obtained results imply that both CHM after infant open-heart surgery and other factors associated with 22q11.2 microdeletion, contribute to SLD in patients with 22q11.2 microdeletion. Based on this, we could postulate that there is/are some potential candidate gene(s), located in the 22q11.2 region, whose function could be important for speech and language development. Copyright © 2016 Elsevier Ltd. All rights reserved.

Nuclear AgNOR protein enhancement in nucleoplasms of peripheral blood lymphocytes of babies/children with Down syndrome.

PubMed

Imamoglu, Nalan; Eroz, Recep; Canatan, Halit; Demirtas, Halil; Saatci, Çetin

2016-03-01

Down syndrome (DS) is one of the most common chromosomal disorders. The factors contributing to the mental retardation together with other defects in this syndrome have not been fully explained. Individuals with DS have extra rRNA gene family since they carry an extra chromosome 21. The few reports available are on the relationship between the nucleolus organizer regions (NORs) and DS phenotype. The in vivo regulation of NORs expression on the extra chromosome 21 is not completely understood. Previous studies have shown that nucleoli of lymphocytes from infants (mostly neonates) with DS contain more in vivo and in vitro nucleolar AgNOR proteins when compared with healthy infants. The objective of this study is to compare the in vivo nuclear AgNOR protein level in nucleoplasms (also called as karyoplasm) of nonstimulated peripheral blood lymphocytes from babies/children with DS and healthy controls. Peripheral blood samples obtained from 20 babies/children with DS and 20 matched healthy controls were smeared on clean glass slides and then AgNOR staining was performed. The AgNOR protein level in nucleoplasms of lymphocytes from both groups was calculated using a computer program. Nearly 100 interphase nuclei per individual were analysed. Average nuclear AgNOR protein levels in nucleoplasms of lymphocytes from babies/children with DS were found to be significantly higher than those of the controls (P < 0.001). On the basis of our present results, we propose that the increase of nuclear AgNOR protein in in vivo conditions may contribute to the formation of DS phenotypes. © 2016 Wiley Periodicals, Inc.

Functional assessments of the knee joint biomechanics by using pendulum test in adults with Down syndrome

PubMed Central

Casabona, Antonino; Valle, Maria Stella; Pisasale, Mariangela; Pantò, Maria Rosita

2012-01-01

In this study, we assessed kinematics and viscoelastic features of knee joint in adults with Down syndrome (DS) by means of the Wartenberg pendulum test. This test allows the measuring of the kinematics of the knee joint during passive pendular motion of leg under the influence of gravity. In addition, by a combination of kinematic and anthropometric data, pendulum test provides estimates of joint viscoelastic properties by computing damping and stiffness coefficients. To monitor the occurrences of muscle activation, the surface electromyogram (EMG) of muscle rectus femoris was recorded. The experimental protocol was performed in a group of 10 adults with DS compared with 10 control adults without DS. Joint motion amplitude, velocity, and acceleration of the leg during the first knee flexion significantly decreased in persons with DS with respect to those without DS. This behavior was associated with the activation of rectus femoris in subjects with DS that resulted in increasing of joint resistance shortly after the onset of the first leg flexion. The EMG bursts mostly occurred between 50 and 150 ms from the leg flexion onset. During the remaining cycles of pendular motion, persons with DS exhibited passive leg oscillations with low tonic EMG activity and reduced damping coefficient compared with control subjects. These results suggest that adults with DS might perform preprogrammed contractions to increase joint resistance and compensate for inherent joint instability occurring for quick and unpredictable perturbations. The reduction of damping coefficients observed during passive oscillations could be a predictor of muscle hypotonia. PMID:22995394

Recall memory in children with Down syndrome and typically developing peers matched on developmental age.

PubMed

Milojevich, H; Lukowski, A

2016-01-01

Whereas research has indicated that children with Down syndrome (DS) imitate demonstrated actions over short delays, it is presently unknown whether children with DS recall information over lengthy delays at levels comparable with typically developing (TD) children matched on developmental age. In the present research, 10 children with DS and 10 TD children participated in a two-session study to examine basic processes associated with hippocampus-dependent recall memory. At the first session, the researcher demonstrated how to complete a three-step action sequence with novel stimuli; immediate imitation was permitted as an index of encoding. At the second session, recall memory was assessed for previously modelled sequences; children were also presented with two novel three-step control sequences. The results indicated that group differences were not apparent in the encoding of the events or the forgetting of information over time. Group differences were also not observed when considering the recall of individual target actions at the 1-month delay, although TD children produced more target actions overall at the second session relative to children with DS. Group differences were found when considering memory for temporal order information, such that TD children evidenced recall relative to novel control sequences, whereas children with DS did not. These findings suggest that children with DS may have difficulty with mnemonic processes associated with consolidation/storage and/or retrieval processes relative to TD children. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size.

PubMed

Sun, Daqiang; Ching, Christopher R K; Lin, Amy; Forsyth, Jennifer K; Kushan, Leila; Vajdi, Ariana; Jalbrzikowski, Maria; Hansen, Laura; Villalon-Reina, Julio E; Qu, Xiaoping; Jonas, Rachel K; van Amelsvoort, Therese; Bakker, Geor; Kates, Wendy R; Antshel, Kevin M; Fremont, Wanda; Campbell, Linda E; McCabe, Kathryn L; Daly, Eileen; Gudbrandsen, Maria; Murphy, Clodagh M; Murphy, Declan; Craig, Michael; Vorstman, Jacob; Fiksinski, Ania; Koops, Sanne; Ruparel, Kosha; Roalf, David R; Gur, Raquel E; Schmitt, J Eric; Simon, Tony J; Goodrich-Hunsaker, Naomi J; Durdle, Courtney A; Bassett, Anne S; Chow, Eva W C; Butcher, Nancy J; Vila-Rodriguez, Fidel; Doherty, Joanne; Cunningham, Adam; van den Bree, Marianne B M; Linden, David E J; Moss, Hayley; Owen, Michael J; Murphy, Kieran C; McDonald-McGinn, Donna M; Emanuel, Beverly; van Erp, Theo G M; Turner, Jessica A; Thompson, Paul M; Bearden, Carrie E

2018-06-13

The 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in 22q11DS, but were generally underpowered to characterize neuroanatomic abnormalities associated with psychosis in 22q11DS, and/or neuroanatomic effects of variability in deletion size. To address these issues, we developed the ENIGMA (Enhancing Neuro Imaging Genetics Through Meta-Analysis) 22q11.2 Working Group, representing the largest analysis of brain structural alterations in 22q11DS to date. The imaging data were collected from 10 centers worldwide, including 474 subjects with 22q11DS (age = 18.2 ± 8.6; 46.9% female) and 315 typically developing, matched controls (age = 18.0 ± 9.2; 45.9% female). Compared to controls, 22q11DS individuals showed thicker cortical gray matter overall (left/right hemispheres: Cohen's d = 0.61/0.65), but focal thickness reduction in temporal and cingulate cortex. Cortical surface area (SA), however, showed pervasive reductions in 22q11DS (left/right hemispheres: d = -1.01/-1.02). 22q11DS cases vs. controls were classified with 93.8% accuracy based on these neuroanatomic patterns. Comparison of 22q11DS-psychosis to idiopathic schizophrenia (ENIGMA-Schizophrenia Working Group) revealed significant convergence of affected brain regions, particularly in fronto-temporal cortex. Finally, cortical SA was significantly greater in 22q11DS cases with smaller 1.5 Mb deletions, relative to those with typical 3 Mb deletions. We found a robust neuroanatomic signature of 22q11DS, and the first evidence that deletion size impacts brain structure. Psychotic illness in this highly penetrant deletion was associated with similar neuroanatomic abnormalities to idiopathic schizophrenia. These consistent cross-site findings highlight the homogeneity of this single genetic etiology, and support the suitability of 22q11DS as a biological model of schizophrenia.

Visuo-spatial Ability in Individuals with Down Syndrome: Is it Really a Strength?

PubMed Central

Yang, Yingying; Conners, Frances A.; Merrill, Edward C.

2014-01-01

Down syndrome (DS) is associated with extreme difficulty in verbal skills and relatively better visuo-spatial skills. Indeed, visuo-spatial ability is often considered a strength in DS. However, it is not clear whether this strength is only relative to the poor verbal skills, or, more impressively, relative to cognitive ability in general. To answer this question, we conducted an extensive literature review of studies on visuo-spatial abilities in people with Down syndrome from January 1987 to May 2013. Based on a general taxonomy of spatial abilities patterned after Lohman, Pellegrino, Alderton, and Regian (1987) and Carroll (1993) and existing studies of DS, we included five different domains of spatial abilities – visuo-spatial memory, visuo-spatial construction, mental rotation, closure, and wayfinding. We evaluated a total of 49 studies including 127 different comparisons. Most comparisons involved a group with DS vs. a group with typical development matched on mental age and compared on a task measuring one of the five visuo-spatial abilities. Although further research is needed for firm conclusions on some visuo-spatial abilities, there was no evidence that visuo-spatial ability is a strength in DS relative to general cognitive ability. Rather, the review suggests an uneven profile of visuo-spatial abilities in DS in which some abilities are commensurate with general cognitive ability level, and others are below. PMID:24755229

Changes in the response to excitatory antagonists, agonists, and spasmolytic agents in circular colonic smooth muscle strips from patients with diverticulosis.

PubMed

Alvarez-Berdugo, D; Espín, F; Arenas, C; López, I; Clavé, P; Gallego, D

2015-11-01

Colonic samples from asymptomatic diverticulosis (DS) patients presented enhanced electrical field stimulation (EFS)-contractions, in an earlier study of ours, suggesting increased endogenous responses. The aim of this study was to explore changes in excitatory neuromuscular transmission and to assess the pharmacodynamics of spasmolytic agents in DS. Circular muscle strips from sigmoid colon of DS patients (n = 30; 69.5 ± 14.8 years) and controls (n = 32; 64.7 ± 16.2 years) were studied using organ baths to evaluate the direct effect of excitatory agonists (carbachol, neurokinin A [NKA] and substance P [SP]), and the effect of antagonists (atropine and NK2 antagonist GR94800) and spasmolytic drugs (otilonium bromide [OB] and N-butyl-hyoscine) on the contractions induced by EFS-stimulation of excitatory motorneurons. qRT-PCR was also performed to compare mRNA expression of M2 , M3 , NK2 receptors and L-type calcium channels. Contractions to carbachol (Emax : 663.7 ± 305.6% control vs 2698.0 ± 439.5% DS; p < 0.0005) and NKA (Emax : 387.8 ± 35.6% vs 1102.0 ± 190.1%; p < 0.0005) were higher in DS group, without differences for SP. Higher potency for DS patients was observed in the concentration-response curves for atropine (pIC50  = 8.56 ± 0.15 control vs pIC50  = 9.95 ± 0.18 DS group; p < 0.005) and slightly higher for GR94800 (pIC50  = 7.21 ± 0.18 control vs pIC50  = 7.97 ± 0.32 group; p < 0.0001). Lower efficacy (Emax ) and potency (pIC50 ) was observed for spasmolytic drugs in DS, whereas no differences were found regarding the relative expression of the receptors evaluated between groups. The greater response to cholinergic and tachykinergic agonists and greater potency for muscarinic and NK2 antagonists observed in DS might play a role in the spasticity found in diverticular disease. © 2015 John Wiley & Sons Ltd.

Stereotactic Radiosurgery With or Without Whole-Brain Radiotherapy for Brain Metastases: Secondary Analysis of the JROSG 99-1 Randomized Clinical Trial.

PubMed

Aoyama, Hidefumi; Tago, Masao; Shirato, Hiroki

2015-07-01

It remains uncertain whether treatment with stereotactic radiosurgery (SRS) alone can be safely applied to all patient populations with 1 to 4 brain metastases (BMs) exhibiting heterogeneous prognoses. To investigate the feasibility of SRS alone for patients with different prognoses determined by the diagnosis-specific Graded Prognostic Assessment (DS-GPA). A secondary analysis (performed in September 2014) of the Japanese Radiation Oncology Study Group (JROSG) 99-1, a phase 3 randomized trial, comparing SRS alone and whole-brain radiotherapy (WBRT) + SRS conducted in 1999 to 2003. Among a total of 132 patients, 88 with non-small-cell lung cancer (NSCLC) and 1 to 4 BMs were included and poststratified by DS-GPA scores to avoid potential bias from BMs from different primary cancer types. The median follow-up time was 8.05 months. The WBRT schedule was 30 Gy in 10 fractions over 2 to 2.5 weeks. The mean SRS dose was 21.9 Gy in SRS alone and 16.6 Gy in WBRT + SRS. The primary end point was overall survival (OS), and the secondary end points included brain tumor recurrence (BTR), salvage treatment, and radiation toxic effects. Forty-seven patients had a favorable prognosis, with DS-GPA scores of 2.5 to 4.0 (26 SRS-alone and 21 WBRT + SRS [DS-GPA 2.5-4.0 group]), and 41 had an unfavorable prognosis, with DS-GPA scores of 0.5 to 2.0 (19 SRS-alone and 22 WBRT + SRS [DS-GPA 0.5-2.0 group]). Significantly better OS was observed in the DS-GPA 2.5-4.0 group in WBRT + SRS vs the SRS alone, with a median survival time of 16.7 (95% CI, 7.5-72.9) months vs 10.6 (95% CI, 7.7-15.5) months (P = .04) (hazard ratio [HR], 1.92; 95% CI, 1.01-3.78). However, no such difference was observed in the DS-GPA 0.5-2.0 group (HR, 1.05; 95% CI, 0.55-1.99) (P = .86). This benefit could be explained by the differing BTR rates, in that the prevention against BTR by WBRT had a more significant impact in the DS-GPA 2.5-4.0 group (HR, 8.31; 95% CI, 3.05-29.13) (P < .001) vs the DS-GPA 0.5-2.0 group (HR, 3.57; 95% CI, 1.02-16.49) (P = .04). Despite the current trend of using SRS alone, the important role of WBRT for patients with BMs from NSCLC with a favorable prognosis should be considered. Our findings should be validated through appropriately designed prospective studies. umin.ac.jp/ctr Identifier: C000000412.

Analysis of Movement Acceleration of Down's Syndrome Teenagers Playing Computer Games.

PubMed

Carrogi-Vianna, Daniela; Lopes, Paulo Batista; Cymrot, Raquel; Hengles Almeida, Jefferson Jesus; Yazaki, Marcos Lomonaco; Blascovi-Assis, Silvana Maria

2017-12-01

This study aimed to evaluate movement acceleration characteristics in adolescents with Down syndrome (DS) and typical development (TD), while playing bowling and golf videogames on the Nintendo ® Wii™. The sample comprised 21 adolescents diagnosed with DS and 33 with TD of both sexes, between 10 and 14 years of age. The arm swing accelerations of the dominant upper limb were collected as measures during the bowling and the golf games. The first valid measurement, verified by the software readings, recorded at the start of each of the games, was used in the analysis. In the bowling game, the groups presented significant statistical differences, with the maximum (M) peaks of acceleration for the Male Control Group (MCG) (M = 70.37) and Female Control Group (FCG) (M = 70.51) when compared with Male Down Syndrome Group (MDSG) (M = 45.33) and Female Down Syndrome Group (FDSG) (M = 37.24). In the golf game the groups also presented significant statistical differences, the only difference being that the maximum peaks of acceleration for both male groups were superior compared with the female groups, MCG (M = 74.80) and FCG (M = 56.80), as well as in MDSG (M = 45.12) and in FDSG (M = 30.52). It was possible to use accelerometry to evaluate the movement acceleration characteristics of teenagers diagnosed with DS during virtual bowling and golf games played on the Nintendo Wii console.

Relationship between repetitive behaviour and fear across normative development, autism spectrum disorder, and down syndrome.

PubMed

Uljarević, Mirko; Evans, David W

2017-03-01

The present study had two aims: first to compare levels of restricted and repetitive behaviours (RRB) across two groups of typically developing (TD) children, and two disorders: Autism Spectrum Disorder (ASD) and Down syndrome (DS), and second to explore the relationship between fear and repetitive behaviours in these four groups. Parents of 41 offspring with ASD (M age  = 123.39 months, SD age  = 27.67), 38 offspring with DS (M age  = 125.37 months, SD age  = 45.71), 45 typically developing children matched to the mental age (MA) of the DS group (TD MA; M age  = 51.13 months, SD age  = 22.1), and 42 chronological age (TD CA; M age  = 117.93 months, SD age  = 22.91) matched TD children, completed measures of RRB and fear. ANOVAs revealed differences across the four groups on the RRB subscale scores: "Just Right" F(3,162) = 16.62, P < 0.001; Rigid Routines F(3,162) = 52.76, P < 0.001; Sensory behaviours F(3,162) = 23.26, P < 0.001. Post-hoc comparisons revealed that children with ASD had the highest RRB levels followed by DS, TD MA, and TD CA children. In children with ASD, higher levels of fear were related to higher RRB levels. Similar, albeit less strong, patterns of associations was found among DS and TD MA children but not in older TD CA children. This study provided evidence of a fear-RRB association in children with ASD, DS, and two groups of TD children. Autism Res 2017, 10: 502-507. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Facial emotion recognition in Williams syndrome and Down syndrome: A matching and developmental study.

PubMed

Martínez-Castilla, Pastora; Burt, Michael; Borgatti, Renato; Gagliardi, Chiara

2015-01-01

In this study both the matching and developmental trajectories approaches were used to clarify questions that remain open in the literature on facial emotion recognition in Williams syndrome (WS) and Down syndrome (DS). The matching approach showed that individuals with WS or DS exhibit neither proficiency for the expression of happiness nor specific impairments for negative emotions. Instead, they present the same pattern of emotion recognition as typically developing (TD) individuals. Thus, the better performance on the recognition of positive compared to negative emotions usually reported in WS and DS is not specific of these populations but seems to represent a typical pattern. Prior studies based on the matching approach suggested that the development of facial emotion recognition is delayed in WS and atypical in DS. Nevertheless, and even though performance levels were lower in DS than in WS, the developmental trajectories approach used in this study evidenced that not only individuals with DS but also those with WS present atypical development in facial emotion recognition. Unlike in the TD participants, where developmental changes were observed along with age, in the WS and DS groups, the development of facial emotion recognition was static. Both individuals with WS and those with DS reached an early maximum developmental level due to cognitive constraints.

Leisure-time physical activity and metabolic syndrome plus depressive symptoms in the FIN-D2D survey.

PubMed

Korniloff, Katariina; Katariina, Korniloff; Häkkinen, Arja; Arja, Häkkinen; Kautiainen, Hannu; Hannu, Kautiainen; Koponen, Hannu; Hannu, Koponen; Peltonen, Markku; Markku, Peltonen; Mäntyselkä, Pekka; Pekka, Mäntyselkä; Oksa, Heikki; Heikki, Oksa; Kampman, Olli; Olli, Kampman; Vanhala, Mauno; Mauno, Vanhala

2010-12-01

To examine the association between leisure-time physical activity (LTPA) and simultaneous presence of metabolic syndrome (MetS) and depressive symptoms (DS) based on a population-based FIN-D2D cross-sectional survey conducted in 2007. 4500 randomly selected Finnish men and women aged 45-74 years were initially enrolled; 2868 (64%) attended a health examination. Participants with complete information (n=2778) were grouped into three LTPA categories: low, moderate and high. MetS was based on the National Cholesterol Education Program criteria and DS on the Beck Depression Inventory (≥10 points). The prevalence of MetS and DS were 53% and 15%, respectively; the prevalence of simultaneous MetS and DS was 10%. The proportion of subjects with MetS, DS and simultaneous presence of MetS and DS increased with decreasing LTPA (p<0.001). On multivariate ordered analysis, LTPA was related to education years, household income, smoking, and the presence of MetS only, DS only and simultaneous MetS and DS. The prevalence of simultaneous MetS and DS was higher in participants with low LTPA compared with participants with high LTPA. Furthermore, LTPA level was associated with socioeconomic status and other health related outcomes, outlining the importance of LTPA as part of the general health promotion. Copyright © 2010 Elsevier Inc. All rights reserved.

Open sphincter-preserving surgery of extraperitoneal rectal cancer without primary stoma and Fast Track Protocol.

PubMed

Pappalardo, G; Coiro, S; De Lucia, F; Giannella, A; Ruffolo, F; Frattaroli, F M

2016-01-01

Fast track protocol (FTP) showed to improve perioperative care. The study aims to evaluate the impact of the FTP in the open extraperitoneal rectal cancer (ERC) surgical treatment without a primary derivative stoma (DS) and the QoL in patients with or without a secondary DS. 50 patients affected by ERC were enrolled and operated on with open low anterior resection without a primary DS. They were randomized in two groups: one was treated perioperativelly in the traditional way (group T), the other using a modif ed FTP (group FT). A QoL questionnaire was administered prior to discharge and at 1-month follow-up. Five courses (10%) were complicated by anastomotic leakage: 3 (12%) in the FT group (2 minor and 1 maior) and 2 (8%) in the T group (1 minor and 1 maior) (p=n.s.). All the maiors and one minor were treated with a DS. Patients of the group FTP were considered dischargeable earlier that those of group T (p<0.05). Patients with DS had a significantly lower QoL score (p<0.0001). FTP with minor modifications is feasible and safe in the ERC open surgery without using a DS. Better results were obtained without increasing complication rate. A secondary DS impacts detrimentally on QoL.

The CHADS2 and CHA2DS2-VASc scores for predicting ischemic stroke among East Asian patients with atrial fibrillation: A systemic review and meta-analysis.

PubMed

Xiong, Qinmei; Chen, Sisi; Senoo, Keitaro; Proietti, Marco; Hong, Kui; Lip, Gregory Y H

2015-09-15

Both the CHADS2 and CHA2DS2-VASc scores are well-validated in Western populations for predicting risk of stroke among patients with atrial fibrillation (AF). There is some uncertainty as to which risk score is best to guide optimal anticoagulant therapy among Asian populations with AF. A systemic literature search of Cochrane library, Scopus, and PubMed databases was conducted using search terms: atrial fibrillation, CHADS2 and CHA2DS2-VASc. Stroke/thromboembolism (TE) outcome events at low, moderate, and high risk groups were compared in relation to both scores. Statistical analyses were performed using Revman 5.3 software. 493 records were retrieved, of which 6 cohort studies focusing on patients from Asian regions were finally appraised and included. Absolute event rates were usually lower when patients were categorized as CHA2DS2-VASc of 0-1, rather than CHADS2 of 0-1, respectively. Meta-analysis revealed that when compared with the CHA2DS2-VASc score, there was a 1.71-fold elevated risk of stroke when patients were stratified as 'low risk' using a CHADS2 score = 0, or a 1.40-fold increase with a CHADS2 score = 1. A 1.19-fold elevated event rate was observed among CHADS2 score ≥ 2 compared to CHA2DS2-VASc, but the total stroke/TE events were numerically higher in patients categorized as CHA2DS2-VASc ≥ 2. The CHA2DS2-VASc score is superior to the CHADS2 score in identifying 'low risk' East Asian AF patients. Rather than a categorical approach, Asian guidelines should adopt a 2 step approach, by initially identifying the truly low risk patients, following which effective stroke prevention can be offered to those with ≥ 1 additional stroke risk factors. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Contingent negative variation in patients with deficit schizophrenia or bipolar I disorder with psychotic features: measurement and correlation with clinical characteristics.

PubMed

Li, Zhe; Deng, Wei; Liu, Xiang; Zheng, Zhong; Li, Mingli; Li, Yinfei; Han, Yuanyuan; Ma, Xiaohong; Wang, Qiang; Liu, Xiehe; Li, Tao

2015-04-01

Schizophrenia is a highly heterogeneous disease. Event-related potentials have been regarded to establish intermediate phenotypes of schizophrenia. Our previous study found that patients with deficit schizophrenia (DS) are relatively homogeneous and show a significantly longer onset latency of contingent negative variation (CNV) expectancy wave. To further examine CNV in patients with first-episode and drug-naïve DS or bipolar I disorder (BP I) with psychotic features, and also investigate correlations between CNV and clinical characteristics in DS and BP I. We elicited a CNV using an alarm (S1)-imperative (S2) paradigm in 30 DS patients or 33 BP I with psychotic features as well as 40 healthy controls. CNV amplitude was significantly smaller and reaction time significantly longer in the DS and BP I groups than in healthy controls. Post-imperative negative variation (PINV) interval was significantly shorter in the DS group than in healthy controls. The onset latency of CNV expectancy wave was significantly longer and PINV area significantly smaller in the DS group than in the other groups. In the DS group, CNV amplitude and PINV interval correlated negatively with the subscale of negative symptoms on the Positive and Negative Syndrome Scale (PANSS); CNV amplitude also correlated negatively with disease duration. In the BP I group, CNV amplitude and reaction time showed no correlation with clinical features. CNV amplitude is a common trait marker for psychosis. The onset latency of CNV expectancy wave appears to be a specific trait marker and may be used to identify candidate genes for DS.

Comparison of Maxillary Molar Distalization with an Implant-Supported Distal Jet and a Traditional Tooth-Supported Distal Jet Appliance

PubMed Central

Cozzani, Mauro; Pasini, Marco; Zallio, Francesco; Ritucci, Robert; Mutinelli, Sabrina; Mazzotta, Laura; Giuca, Maria Rita; Piras, Vincenzo

2014-01-01

Aim. To investigate and compare the efficiency of two appliances for molar distalization: the bone-anchored distal screw (DS) and the traditional tooth-supported distal jet (DJ) for molar distalization and anchorage loss. Methods. Tests (18 subjects) were treated with a DS and controls (18 subjects) were treated with a DJ. Lateral cephalograms were obtained before and at the end of molar distalization and were analysed. Shapiro Wilk test, unpaired t-test, and Wilcoxon rank-sum test were applied according to values distribution. The α level was fixed at 0.05. Results. Maxillary first molars were successfully distalized into a Class I relationship in all patients. The mean molar distalization and treatment time were similar in both groups. The DS group exhibited a spontaneous distalization (2.1 ± 0.9 mm) of the first premolar with control of anchorage loss, distal tipping, extrusion, and skeletal changes. Conclusions. The DS is an adequate compliance-free distalizing appliance that can be used safely for the correction of Class II malocclusions. In comparison to the traditional DJ, the DS enables not only a good rate of molar distalization, but also a spontaneous distalization of the first premolars. PMID:25018770

National Growth Charts for United Arab Emirates Children With Down Syndrome From Birth to 15 Years of Age

PubMed Central

H Aburawi, Elhadi; Nagelkerke, Nicolas; Deeb, Asma; Abdulla, Shahrban; Abdulrazzaq, Yousef M.

2015-01-01

Background Specific centile growth charts for children with Down syndrome (DS) have been produced in many countries and are known to differ from those of normal children. Since growth assessment depends on the growth pattern characteristic for these conditions, disorder-specific charts are desirable for various ethnic groups. Aims To provide cross-sectional weight, height, and head circumference (HC) references for healthy United Arab Emirates (UAE) children with DS. Methods A retrospective and cross-sectional growth study of Emirati children with DS, aged 0 to 18 years old, was conducted. Height, weight, and HC were measured in each child. Cole’s LMS statistical method was applied to estimate age-specific percentiles, and measurements were compared to UAE reference values for normal children. Results Incidence of DS in the UAE population is 1 in 374 live births (267 in 10 000 live births). We analyzed 1263 growth examinations of 182 children with DS born between 1994 and 2012. The male-to-female ratio was 1.6:1. Height, weight, and HC centile charts were constructed for ages 0 to 13 years. The prevalence of overweight and obesity in DS children aged 10 to 13 years of age was 32% and 19%, respectively. The DS children were significantly shorter and heavier than normal children in the UAE. Conclusions Weight, height, and HC growth charts were created for children with DS. These can be used as a reference standard for the UAE children with DS. Overweight and obesity are quite common in DS children ≥10 years of age, as DS children tend to be shorter and heavier than non-DS children. PMID:25196167

Risk of Dumping Syndrome after Sleeve Gastrectomy and Roux-en-Y Gastric Bypass: Early Results of a Multicentre Prospective Study.

PubMed

Ramadan, M; Loureiro, M; Laughlan, K; Caiazzo, R; Iannelli, A; Brunaud, L; Czernichow, S; Nedelcu, M; Nocca, D

2016-01-01

Background. Bariatric surgery is an important field of surgery. An important complication of bariatric surgery is dumping syndrome (DS). Aims. To evaluate the incidence of DS in patients undergoing bariatric surgery. Methods. 541 patients included from 5 nutrition and bariatric centers in France underwent either LSG or LRYGB. They were evaluated at 1 month (M1) and 6 months (M6) postoperatively by an interview and completion of a dumping syndrome questionnaire. Results. 268 patients underwent LSG (Group A) and 273 underwent LRYGB. From the LRYGB patients 229 had mechanical gastrojejunoanal anastomosis with 30 mm linear stapler (Group B) and 44 had manual (hand sewn) 15 mm gastrojejunal anastomosis (Group C). Overall incidence of DS was 8.5% at M1 and M6. In LSG group (Group A), only 4 patients (1.49%) reported episodes of DS at M1 and 3 (1.12%) at M6. In Group B, 41 patients (17.90%) reported episodes of DS at M1 and 43 (18.78%) at M6. Group C experienced one case (2.27%) of DS at M1 and none (0%) at M6. Conclusions. Patients undergoing LRYGB, especially with larger gastrojejunal anastomosis, are more prone to developing DS following surgery than patients undergoing LSG or LRYGB with calibrated manual anastomosis.

Spatial-simultaneous and spatial-sequential working memory in individuals with Down syndrome: the effect of configuration.

PubMed

Carretti, Barbara; Lanfranchi, Silvia; Mammarella, Irene C

2013-01-01

Earlier research showed that visuospatial working memory (VSWM) is better preserved in Down syndrome (DS) than verbal WM. Some differences emerged, however, when VSWM performance was broken down into its various components, and more recent studies revealed that the spatial-simultaneous component of VSWM is more impaired than the spatial-sequential one. The difficulty of managing more than one item at a time is also evident when the information to be recalled is structured. To further analyze this issue, we investigated the advantage of material being structured in spatial-simultaneous and spatial-sequential tasks by comparing the performance of a group of individuals with DS and a group of typically-developing children matched for mental age. Both groups were presented with VSWM tasks in which both the presentation format (simultaneous vs. sequential) and the type of configuration (pattern vs. random) were manipulated. Findings indicated that individuals with DS took less advantage of the pattern configuration in the spatial-simultaneous task than TD children; in contrast, the two groups' performance did not differ in the pattern configuration of the spatial-sequential task. Taken together, these results confirmed difficulties relating to the spatial-simultaneous component of VSWM in individuals with DS, supporting the importance of distinguishing between different components within this system. The findings are discussed in terms of factors influencing this specific deficit. Copyright © 2012 Elsevier Ltd. All rights reserved.

Response to clozapine in a clinically identifiable subtype of schizophrenia

PubMed Central

Butcher, Nancy J.; Fung, Wai Lun Alan; Fitzpatrick, Laura; Guna, Alina; Andrade, Danielle M.; Lang, Anthony E.; Chow, Eva W. C.; Bassett, Anne S.

2015-01-01

Background Genetic testing in psychiatry promises to improve patient care through advances in personalised medicine. However, there are few clinically relevant examples. Aims To determine whether patients with a well-established genetic subtype of schizophrenia show a different response profile to the antipsychotic clozapine than those with idiopathic schizophrenia. Method We retrospectively studied the long-term safety and efficacy of clozapine in 40 adults with schizophrenia, half with a 22q11.2 deletion (22q11.2DS group) and half matched for age and clinical severity but molecularly confirmed to have no pathogenic copy number variant (idiopathic group). Results Both groups showed similar clinical improvement and significant reductions in hospitalisations, achieved at a lower median dose for those in the 22q11.2DS group. Most common side-effects were similarly prevalent between the two groups, however, half of the 22q11.2DS group experienced at least one rare serious adverse event compared with none of the idiopathic group. Many were successfully retried on clozapine. Conclusions Individuals with 22q11.2DS-schizophrenia respond as well to clozapine treatment as those with other forms of schizophrenia, but may represent a disproportionate number of those with serious adverse events, primarily seizures. Lower doses and prophylactic (for example anticonvulsant) management strategies can help ameliorate side-effect risks. This first systematic evaluation of antipsychotic response in a genetic subtype of schizophrenia provides a proof-of-principle for personalised medicine and supports the utility of clinical genetic testing in schizophrenia. PMID:25745132

A comparative study of the effect of diet and soda carbonated drinks on the histology of the cerebellum of adult female albino Wistar rats.

PubMed

Eluwa, M A; Inyangmme, I I; Akpantah, A O; Ekanem, T B; Ekong, M B; Asuquo, O R; Nwakanma, A A

2013-09-01

Carbonated drinks are widely consumed because of their taste and their ability to refresh and quench thirst. These carbonated drinks also exist in the form of diet drinks, for example Diet Coke®, Pepsi®, extra. A comparative effect of the diet and regular soda carbonated drinks on the histology of the cerebellum of female albino Wistar rats was investigated. Fifteen adult female Wistar rats weighing between 180-200 g were divided into 3 groups; designated as groups A, B and C, and each group consisted of five rats. Group A was the Control group and received distilled water, while groups B and C were the experimental groups. Group B was administered 50 ml of regular soda (RS), and group C was administered 50 ml of diet soda (DS) each per day for 21 days, and the rats were sacrificed on Day 22, and their cerebellums excised and preserved. Histological result of the sections of the cerebellum showed shrunken and degenerated Purkinje cells with hypertrophied dendrites, especially in the DS group, which was less in the RS group compared to the control group. These results suggest that diet soda has adverse effect on the cerebellum of adult female albino Wistar rats.

Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome.

PubMed

Viuff, Mette Hansen; Stochholm, Kirstine; Uldbjerg, Niels; Nielsen, Birgitte Bruun; Gravholt, Claus Højbjerg

2015-10-01

How does a national prenatal screening program for Down syndrome (DS) perform in detecting sex chromosome abnormalities (SCAs)-Turner syndrome (TS), Klinefelter syndrome, 47,XXX and 47,XYY syndromes. The SCA detection rate resulting from DS screening was below 50% for all four groups of SCAs. The detection rates of SCAs are higher in countries with DS screening. TS is associated with greater nuchal translucency (NT) and lower pregnancy-associated plasma protein-A (PAPP-A). However, specific detection rates of SCAs using prenatal DS screening have not been determined. No clear trend in PAPP-A, free beta human chorionic gonadotropin (β-hCG) and NT has been found in the remaining SCAs. Several lines of inquiry suggest that it would be advantageous for individuals with SCA to be detected early in life, leading to prevention or treatment of accompanying conditions. There is limited information about pre- and perinatal status that distinguishes SCA embryogenesis from normal fetal development. A register-based case-control study from the Danish Central Cytogenetic Register (DCCR), cross-linked with the Danish Fetal Medicine Database (DFMD), was performed from 2008 to 2012. Groups of SCAs were compared with DS and then matched with non-SCA controls to assess differences between these groups in prenatal markers and birth outcomes. We included cases with prenatal and post-natal SCA karyotypes (n = 213), DS (n = 802) and 168 056 controls. We screened 275 037 individuals examined prenatally. We retrieved information regarding maternal age, NT, β-hCG and PAPP-A, as well as details regarding maternal and newborn characteristics. The DS screening procedure detected 87 per 100 000 TS (42% of expected), 19 per 100 000 Klinefelter syndrome (13% of expected), 16 per 100 000 47,XXX (16% of cases) and 5 per 100 000 47,XYY (5% of expected) SCAs, with an overall detection rate of 27%. Compared with controls, all four SCA groups showed significantly higher NT and lower PAPP-A compared with controls (all P < 0.01) and similar to DS. The legal abortion rate was high for all four syndromes (47,XXX: 24%; 47,XYY: 29%; Klinefelter syndrome: 48%, TS: 84%). For SCA fetuses carried to term, only TS fetuses had consistently lower birthweights and placenta weights than non-SCA controls (both P = 0.0001). A few SCA cases localized in DCCR could not be found in DFMD (n = 16). Controls were matched on sex of the fetus of cases, meaning that all electively aborted fetuses (before week 12) were excluded, possibly reducing the diversity in the control group. We were not able to localize all diagnosed cases of SCA and DS in DFMD. Although these cases were present in DCCR, we were not able to account for the discrepancy. In addition, we suspect that several SCA children have not been diagnosed yet and future post-natal diagnosis of these cases would reduce the diagnostic yield reported here even further. The prenatal detection rate is below 50% for all SCAs. The approach used for detecting DS cannot be extended to also include SCAs. In addition, all SCAs have low PAPP-A and increased NT, thus probably reflecting an abnormal embryogenesis. Growth retardation of TS fetuses is if anything more pronounced than previously reported, both when evaluating fetus and placenta. This study received support from Aarhus University and the Novo Nordisk Foundation. The authors have no competing interests that may be relevant to the study. © The Author 2015. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Computational Fluid-Dynamic Analysis after Carotid Endarterectomy: Patch Graft versus Direct Suture Closure.

PubMed

Domanin, Maurizio; Buora, Adelaide; Scardulla, Francesco; Guerciotti, Bruno; Forzenigo, Laura; Biondetti, Pietro; Vergara, Christian

2017-10-01

Closure technique after carotid endarterectomy (CEA) still remains an issue of debate. Routine use of patch graft (PG) has been advocated to reduce restenosis, stroke, and death, but its protective effect, particularly from late restenosis, is less evident and recent studies call into question this thesis. This study aims to compare PG and direct suture (DS) by means of computational fluid dynamics (CFD). To identify carotid regions with flow recirculation more prone to restenosis development, we analyzed time-averaged oscillatory shear index (OSI) and relative residence time (RRT), that are well-known indices correlated with plaque formation. CFD was performed in 12 patients (13 carotids) who underwent surgery for stenosis >70%, 9 with PG, and 4 with DS. Flow conditions were modeled using patient-specific boundary conditions derived from Doppler ultrasound and geometries from magnetic resonance angiography. Mean value of the spatial averaged OSI resulted 0.07 for PG group and 0.03 for DS group, the percentage of area with OSI above a threshold of 0.2 resulted 10.1% and 3.7%, respectively. The mean of averaged-in-space RRT values was 4.4 1/Pa for PG group and 1.6 1/Pa for DS group, the percentage of area with RRT values above a threshold of 4 1/Pa resulted 22.5% and 6.5%, respectively. Both OSI and RRT values resulted higher when PG was preferred to DS and also areas with disturbed flow resulted wider. The absolute higher values computed by means of CFD were observed when PG was used indiscriminately regardless of carotid diameters. DS does not seem to create negative hemodynamic conditions with potential adverse effects on long-term outcomes, in particular when CEA is performed at the common carotid artery and/or the bulb or when ICA diameter is greater than 5.0 mm. Copyright © 2017 Elsevier Inc. All rights reserved.

Verbal short-term memory in Down's syndrome: an articulatory loop deficit?

PubMed

Vicari, S; Marotta, L; Carlesimo, G A

2004-02-01

Verbal short-term memory, as measured by digit or word span, is generally impaired in individuals with Down's syndrome (DS) compared to mental age-matched controls. Moving from the working memory model, the present authors investigated the hypothesis that impairment in some of the articulatory loop sub-components is at the base of the deficient maintenance and recall of phonological representations in individuals with DS. Two experiments were carried out in a group of adolescents with DS and in typically developing children matched for mental age. In the first experiment, the authors explored the reliance of these subjects on the subvocal rehearsal mechanism during a word-span task and the effects produced by varying the frequency of occurrence of the words on the extension of the word span. In the second experiment, they investigated the functioning of the phonological store component of the articulatory loop in more detail. A reduced verbal span in DS was confirmed. Neither individuals with DS nor controls engaged in spontaneous subvocal rehearsal. Moreover, the data provide little support for defective functioning of the phonological store in DS. No evidence was found suggesting that a dysfunction of the articulatory loop and lexical-semantic competence significantly contributed to verbal span reduction in subjects with DS. Alternative explanations of defective verbal short-term memory in DS, such as a central executive system impairment, must be considered.

Faster, Stronger, Healthier: Adolescent-Stated Reasons for Dietary Supplementation.

PubMed

Zdešar Kotnik, Katja; Jurak, Gregor; Starc, Gregor; Golja, Petra

Examine the underlying reasons and sources of recommendation for dietary supplement (DS) use among adolescents. Cross-sectional analysis of children's development in Slovenia in September to October, 2014. Nationally recruited sample. Adolescents aged 14-19 years enrolled in 15 high schools (n = 1,463). Reasons for and sources of recommendation for DS use, sports club membership, sports discipline, and extent of physical activity (PA) were self-reported data. Chi-square test of independence was performed to compare the prevalence of DS use between groups with different extents of PA and nonathletes/athletes, referring to 11 different reasons and 9 different sources of recommendation for DS use. Use of DS was widespread among adolescents (69%), athletes (76%), and nonathletes (66%). Higher prevalence of supplementation was observed in males, who justified it use for sports performance enhancement and better development and function of muscles. In contrast, females emphasized immune system improvement. Higher extent of PA was associated with a higher prevalence of DS use. This was especially evident in males, who participated in team sports. A high percentage of adolescents (41%) decided on their own to use DS and because of advice from parents or relatives (30%). Several reasons for the widespread use of DS in adolescents were associated with sports participation. Therefore, educational programs regarding DS use should be targeted primarily to adolescents and their parents who are involved in sports, and especially team sports. Copyright © 2017 Society for Nutrition Education and Behavior. Published by Elsevier Inc. All rights reserved.

Effect of the one‑carbon unit cycle on overall DNA methylation in children with Down's syndrome.

PubMed

Song, Cui; He, Jingyi; Chen, Jie; Liu, Youxue; Xiong, Feng; Wang, Yutian; Li, Tingyu

2015-12-01

DNA methylation is a major epigenetic mechanism regulating gene expression. In order to analyze the impact of the one‑carbon unit cycle on the overall level of DNA methylation in children with Down's syndrome (DS), the levels of indicators associated with the one‑carbon unit cycle, including folic acid (FA), vitamin B12 (VB12) and homocysteine (Hcy), and the overall DNA methylation level of DS and healthy controls (HCs) were determined in the present study. A total of 36 DS children and 40 age‑ and gender‑matched HCs were included in the present study to determine the levels of FA, VB12, Hcy and overall DNA methylation. The effect of the one‑carbon unit cycle on the overall level of DNA methylation within the DS group was analyzed. The results demonstrated that the level of VB12 was decreased (P=0.008), while the Hcy level was increased (P=0.000) in DS patients compared with the HCs. FA and VB12 levels decreased with increasing age in DS patients (P<0.05). DNA hypermethylation and hypomethylation were observed in DS patients with VB12 deficiency and hyperhomocysteinemia, respectively (P=0.031, P=0.021). Abnormalities in the one‑carbon unit cycle tend to worsen with increasing age in DS children. Thus, one‑carbon unit cycle‑associated alterations in DNA methylation may be important in the neuropathological alterations observed in DS.

Cortical morphology development in patients with 22q11.2 deletion syndrome at ultra-high risk of psychosis.

PubMed

Padula, Maria Carmela; Schaer, Marie; Armando, Marco; Sandini, Corrado; Zöller, Daniela; Scariati, Elisa; Schneider, Maude; Eliez, Stephan

2018-01-17

Patients with 22q11.2 deletion syndrome (22q11DS) present a high risk of developing psychosis. While clinical and cognitive predictors for the conversion towards a full-blown psychotic disorder are well defined and largely used in practice, neural biomarkers do not yet exist. However, a number of investigations indicated an association between abnormalities in cortical morphology and higher symptoms severities in patients with 22q11DS. Nevertheless, few studies included homogeneous groups of patients differing in their psychotic symptoms profile. In this study, we included 22 patients meeting the criteria for an ultra-high-risk (UHR) psychotic state and 22 age-, gender- and IQ-matched non-UHR patients. Measures of cortical morphology, including cortical thickness, volume, surface area and gyrification, were compared between the two groups using mass-univariate and multivariate comparisons. Furthermore, the development of these measures was tested in the two groups using a mixed-model approach. Our results showed differences in cortical volume and surface area in UHR patients compared with non-UHR. In particular, we found a positive association between surface area and the rate of change of global functioning, suggesting that higher surface area is predictive of improved functioning with age. We also observed accelerated cortical thinning during adolescence in UHR patients with 22q11DS. These results, although preliminary, suggest that alterations in cortical volume and surface area as well as altered development of cortical thickness may be associated to a greater probability to develop psychosis in 22q11DS.

Aqueous solubility of diclofenac diethylamine in the presence of pharmaceutical additives: a comparative study with diclofenac sodium.

PubMed

Khalil, E; Najjar, S; Sallam, A

2000-04-01

Aqueous solubility of diclofenac diethylamine (DDEA), a nonsteroidal anti-inflammatory drug currently formulated as a topical emulgel, was studied in the presence of pharmaceutical additives and compared with diclofenac sodium (DS). Electrolytes at low concentrations exhibited a salting-in effect on DDEA with peak solubility that was attributed to the association of DDEA into micelles, followed by a salting-out effect at higher concentrations, by which structure formation by DDEA molecules increased and precipitation occurred. For DS, which is not capable of forming micelles, the salting-out effect was dominant due to the common ion effect. Cosolvents displayed significant enhancement in solubility of both salts except glycerol, which showed a slight increase in solubility of DDEA and a decrease in solubility of DS due to transformation into the less soluble hydrate form. Ethanol and polyethylene glycol (PEG) 400 cosolvent systems at all concentrations showed positive deviations from the log-linear solubility equation. In the case of propylene glycol (PG) cosolvent systems, negative deviations were observed at low volume fractions of cosolvent, while positive deviations were observed at high volume fractions of cosolvent for DS and DDEA. The parent drug, being less ionizable and highly nonpolar, showed negative deviations up to 90% PG content. Thus, the positive deviations for DS and DDEA could be attributed to the more ionizable carboxylic group and its higher ability for hydrogen bonding at higher fractions of cosolvent. Polyvinylpyrrolidone (PVP) and PEG4000 or PEG6000 enhanced the solubility of DS and DDEA, with PVP exerting higher solubilizing efficiency and DS showing better solubility than DDEA. Solubilities of DS in Tween 80 (T80) and Pluronic F-127 (PF127) aqueous solutions were almost similar, while the solubility of DDEA in the presence of T80 was higher than the solubility in the presence of PF127. DS appeared to be located more in the polyoxyethylene mantle of the micelles, while DDEA was located more in the core of the micelles.

Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome.

PubMed

Niarchou, Maria; Calkins, Monica E; Moore, Tyler M; Tang, Sunny X; McDonald-McGinn, Donna M; Zackai, Elaine H; Emanuel, Beverly S; Gur, Ruben C; Gur, Raquel E

2018-06-06

22q11.2 Deletion Syndrome (22q11.2DS) is associated with increased risk for schizophrenia in adulthood while Attention Deficit Hyperactivity Disorder (ADHD) is the most prevalent diagnosis in childhood. Inattention symptoms are pronounced in 22q11.2DS and given that attentional impairment is a core feature of schizophrenia, inattention symptoms may reflect underlying ADHD, psychosis, or both. We investigate whether inattention is associated with psychosis in 22q11.2DS and in other groups at risk for psychosis but without the deletion (ND) (idiopathic clinical risk and first degree family members of individuals with schizophrenia). One hundred thirty-seven individuals with 22q11.2DS (mean age: 14.0), 84 ND individuals with subthreshold psychosis (mean age: 16.9) and 31 ND individuals with family history of psychosis (mean age: 17.0) were included in the study. Psychopathology was assessed using research diagnostic assessments. ADHD total symptoms were associated with overall levels of subthreshold psychosis symptoms in 22q11.2DS (β = .8, P = .04). Inattention symptoms were specifically associated with positive (β = .5, P = .004), negative (β = .5, P = .03), and disorganized (β = .5, P < .001) symptoms, while hyperactivity-impulsivity symptoms were associated with disorganized symptoms (β = .5, P = .01). The prevalence of ADHD inattention symptoms was higher in 22q11.2DS with subthreshold psychosis compared to ND individuals with subthreshold psychosis (P < .001), even when adjusting for cognitive impairment and overall psychopathology. The pattern was similar when comparing individuals with 22q11.2DS and ND individuals with family history of psychosis. This is the first study to examine the associations between ADHD symptoms and psychosis in 22q11.2DS. Our findings support a potentially important role of ADHD inattention symptoms in psychosis in 22q11.2DS.

Long working hours, job satisfaction, and depressive symptoms: a community-based cross-sectional study among Japanese employees in small- and medium-scale businesses

PubMed Central

Nakata, Akinori

2017-01-01

Although long working hours have been suspected to be a risk factor for depressive symptoms (DS), it is not well understood the conditions under which long working hours are associated with it. This study investigated the moderating effect of job satisfaction on the relationship between working hours and DS. A total of 2,375 full-time non-shift day workers (73% men), aged 18–79 (mean 45) years, in 296 small- and medium-scale businesses were surveyed using a self-administered questionnaire evaluating working hours, job satisfaction, DS and covariates. The Center for Epidemiologic Studies Depression scale (CES-D) was used to assess DS. Risk of DS (CES-D ≥ 16) by working hours, job satisfaction, and both combined was estimated by multivariable logistic regression analysis. Compared to participants working 6–8 hrs/day, those working 12+ hrs/day had significantly higher odds of DS (adjusted odds ratio [aOR] 1.49), while participants with low satisfaction, as opposed to high satisfaction, had increased odds of DS (aOR 1.81). Furthermore, compared to those working 6–8 hrs/day with high satisfaction (reference group), participants working 6-8 hrs/day, > 8 to 10 hrs/day, and > 10 hrs/day combined with low satisfaction had dose-response increase of DS (aOR 1.48, 2.21 and 2.31, respectively, p < 0.05), whereas those working > 8 to 10 hrs/day and > 10 hrs/day combined with high satisfaction had not (aOR 0.93 and 1.39, respectively, p > 0.10). The results suggest that long working hours are associated with increased risk of DS only under reduced job satisfaction condition, which highlights the importance of improving job satisfaction, particularly among those working excessive hours. PMID:28881792

Reliability and validity of DS-ADHD: A decision support system on attention deficit hyperactivity disorders.

PubMed

Chu, Kuo-Chung; Huang, Yu-Shu; Tseng, Chien-Fu; Huang, Hsin-Jou; Wang, Chih-Huan; Tai, Hsin-Yi

2017-03-01

The purpose of this study is to examine the reliability of the clinical use of the self-built decision support system, diagnosis-supported attention deficit hyperactivity disorder (DS-ADHD), in an effort to develop the DS-ADHD system, by probing into the development of indicating patterns of past screening support systems for ADHD. The study collected data based on 107 subjects, who were divided into two groups, non-ADHD and ADHD, based on the doctor's determination, using the DSM-IV diagnostic standards. The two groups then underwent Test of Variables of Attention (TOVA) and DS-ADHD testing. The survey and testing results underwent one-way ANOVA and split-half method statistical analysis, in order to further understand whether there were any differences between the DS-ADHD and the identification tools used in today's clinical trials. The results of the study are as follows: 1) The ROC area between the TOVA and the clinical identification rate is 0.787 (95% confidence interval: 0.701-0.872); 2) The ROC area between the DS-ADHD and the clinical identification rate is 0.867 (95% confidence interval: 0.801-0.933). The study results show that DS-ADHD has the characteristics of screening for ADHD, based on its reliability and validity. It does not display any statistical differences when compared with TOVA systems that are currently on the market. However, the system is more effective and the accuracy rate is better than TOVA. It is a good tool to screen ADHD not only in Chinese children, but also in western country. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

LDL-cholesterol-lowering effect of a dietary supplement with plant extracts in subjects with moderate hypercholesterolemia.

PubMed

Ogier, Nicolas; Amiot, Marie-Josèphe; Georgé, Stéphane; Maillot, Matthieu; Mallmann, Cécilia; Maraninchi, Marie; Morange, Sophie; Lescuyer, Jean-François; Peltier, Sébastien L; Cardinault, Nicolas

2013-03-01

Red yeast rice (RYR), sugar cane-derived policosanols (SCdP) and artichoke leaf extracts (ALEs) are currently incorporated alone or in combination into dietary supplements for their potential low-density-lipoprotein cholesterol (LDL-cholesterol)-lowering effects. Yet, there is no information supporting the efficacy of this association on the reduction in LDL-cholesterol. The main objective of this study was to investigate the effects of a new dietary supplement (DS) with RYR, SCdP and ALEs on LDL-cholesterol. In a double-blind, randomized, parallel controlled study, 39 subjects from 21 to 55 years with moderate hypercholesterolemia without drug treatment were assigned to 2 groups and then consumed either a DS containing RYR, SCdP and ALEs or a placebo over a 16-week period. Plasma concentrations of lipids [LDL-cholesterol, total cholesterol (TC), high-density-lipoprotein cholesterol (HDL-cholesterol), triacylglycerols (TG)] and plasma levels of vitamins C and E, total polyphenols and malondialdehyde were determined at baseline and after 4, 8, 12 and 16 weeks. LDL-cholesterol and TC were reduced by, respectively, 21.4 % (95 % CI, -13.3 to -24.9 %, p < 0.001) and 14.1 % (95 % CI, -10.1 to -18.0 %, p < 0.001) at week 16 in the DS group compared with baseline. Similar results were obtained at weeks 4, 8 and 12. TG decreased by 12.2 % after 16 weeks in the DS group (95 % CI: -24.4 to -0.1 %, p < 0.05). For the vitamin E/TC ratio, a difference was observed between groups at week 16 (p < 0.05). Other parameters were not modified. Daily consumption of this new DS decreased LDL-cholesterol and TC and is therefore an interesting, convenient aid in managing mild to moderate hypercholesterolemia.

Parenting children with down syndrome: An analysis of parenting styles, parenting dimensions, and parental stress.

PubMed

Phillips, B Allyson; Conners, Frances; Curtner-Smith, Mary Elizabeth

2017-09-01

Effective parenting is vital for a child's development. Although much work has been conducted on parenting typically developing children, little work has examined parenting children with Down syndrome. The purpose of the current study was to compare the parenting styles and dimensions in mothers of children with DS and mothers of TD children. Thirty-five mothers of children with DS and 47 mothers of TD children completed questionnaires about parenting, parental stress, child behavior problems, and child executive function. We found that mothers of children with DS use an authoritative parenting style less and a permissive parenting style more than mothers of TD children. Additionally, we found that mothers of children with DS use reasoning/induction and verbal hostility less and ignoring misbehavior more than mothers of TD children. All of these differences, except for those of reasoning/induction, were at least partially accounted for by the higher levels of parental stress in the DS group. Parenting interventions should be focused on reducing parental stress and training mothers to parent under stress in an effort to improve parenting techniques, which would, in theory, improve long-term child outcomes for children with DS. Copyright © 2017 Elsevier Ltd. All rights reserved.

The functional fitness capacity of adults with Down syndrome in South Africa.

PubMed

Terblanche, E; Boer, P-H

2013-09-01

It is well established that there is a relationship between physical inactivity and increased risk for diseases of lifestyle. Persons with Down syndrome (DS) are especially at risk because of physical and health impairments, as well as perceived and real barriers to participation in exercise. The purpose of the study was to establish the functional fitness capacity and predictors of performance of DS adults. Data were collected at various intellectual disability centres and private homes in seven provinces of South Africa. Three hundred and seventy-one DS individuals (199 men and 172 women) from 18 to 66 years were tested for balance, flexibility, coordination, muscular strength and endurance, aerobic capacity and functional ability. Data were categorised according to gender and age groups (18-25, 26-35, 36-45, and >45 years). Multiple regression analysis was performed to determine the relationship between the functional task and physical test items. Down syndrome men performed significantly better on all but two tests compared with the women (P < 0.05). DS women performed better on the sit-and-reach flexibility item and the chair stand test; however, differences were not statistically significant from the men. Significant differences across age groups were observed for nine of the 13 functional fitness tests (P < 0.05). Muscular strength items, especially leg strength, significantly predicted functional performance in DS men and women. Aerobic capacity only predicted functional performance in DS men and sit-and-reach flexibility and dynamic balance only in DS women. Findings of this study provide important information on the functional capacity of DS adults and show which physical attributes contribute to functional performance. Consequently appropriate training programmes can be tailored for this population whom is known to have poor functional fitness. © 2012 The Authors. Journal of Intellectual Disability Research © 2012 John Wiley & Sons Ltd, MENCAP & IASSID.

Differences in the causes of death of HIV-positive patients in a cohort study by data sources and coding algorithms.

PubMed

Hernando, Victoria; Sobrino-Vegas, Paz; Burriel, M Carmen; Berenguer, Juan; Navarro, Gemma; Santos, Ignacio; Reparaz, Jesús; Martínez, M Angeles; Antela, Antonio; Gutiérrez, Félix; del Amo, Julia

2012-09-10

To compare causes of death (CoDs) from two independent sources: National Basic Death File (NBDF) and deaths reported to the Spanish HIV Research cohort [Cohort de adultos con infección por VIH de la Red de Investigación en SIDA CoRIS)] and compare the two coding algorithms: International Classification of Diseases, 10th revision (ICD-10) and revised version of Coding Causes of Death in HIV (revised CoDe). Between 2004 and 2008, CoDs were obtained from the cohort records (free text, multiple causes) and also from NBDF (ICD-10). CoDs from CoRIS were coded according to ICD-10 and revised CoDe by a panel. Deaths were compared by 13 disease groups: HIV/AIDS, liver diseases, malignancies, infections, cardiovascular, blood disorders, pulmonary, central nervous system, drug use, external, suicide, other causes and ill defined. There were 160 deaths. Concordance for the 13 groups was observed in 111 (69%) cases for the two sources and in 115 (72%) cases for the two coding algorithms. According to revised CoDe, the commonest CoDs were HIV/AIDS (53%), non-AIDS malignancies (11%) and liver related (9%), these percentages were similar, 57, 10 and 8%, respectively, for NBDF (coded as ICD-10). When using ICD-10 to code deaths in CoRIS, wherein HIV infection was known in everyone, the proportion of non-AIDS malignancies was 13%, liver-related accounted for 3%, while HIV/AIDS reached 70% due to liver-related, infections and ill-defined causes being coded as HIV/AIDS. There is substantial variation in CoDs in HIV-infected persons according to sources and algorithms. ICD-10 in patients known to be HIV-positive overestimates HIV/AIDS-related deaths at the expense of underestimating liver-related diseases, infections and ill defined causes. CoDe seems as the best option for cohort studies.

In vivo study comparing an X-shaped polymethylmethacrylate and a cylindrical collagen implant for deep sclerectomy.

PubMed

Codreanu, Andrea; Tran, Hoai V; Wiaux, Christophe; Mansouri, Kaweh; Roy, Sylvain; Mermoud, Andre; Schnyder, Corinne

2011-03-01

Study in vivo characteristics of a polymethylmethacrylate (PMMA) implant compared to the standard cylindrical collagen implant for deep sclerectomy (DS). Six-month comparative study. Twenty eyes of ten rabbits. Eyes were randomized to have DS with PMMA implant in one eye and collagen implant in the opposite eye. The growth of the new subconjunctival drainage vessels was assessed by combined fluorescein and indocyanin green anterior segment angiography; intrascleral and subconjunctival blebs were imaged by ultrasound biomicroscopy (UBM). At six months, outflow facility (C) was measured by anterior chamber perfusion and portions of one side of the DS were compared to portions on the 180° opposite side and native sclera on histology. The mean IOP preoperatively and at one, four, twelve, and twenty-four weeks was comparable in both groups (P > 0.1). UBM showed a statistically insignificant quicker regression of the subconjunctival bleb as well as a durable intrascleral lake in the PMMA group (P > 0.05). New drainage vessels were initially observed one month after surgery; they were more numerous in the PMMA group on angiographic and histological findings at 6 months (P < 0.05). The mean C increased significantly after surgery compared to preoperative values (P < 0.05) and no difference was observed between the implants (0.24 ± 0.06 µl/min/mmHg [PMMA] and 0.23 ± 0.07 µl/min/mmHg [collagen implant]) (P = 0.39). Deep sclerectomy performed with PMMA or collagen implants showed similar IOP lowering effects, outflow facility increase, and degree of inflammatory reaction. © 2010 The Authors. Clinical and Experimental Ophthalmology © 2010 Royal Australian and New Zealand College of Ophthalmologists.

The role of high airway pressure and dynamic strain on ventilator-induced lung injury in a heterogeneous acute lung injury model.

PubMed

Jain, Sumeet V; Kollisch-Singule, Michaela; Satalin, Joshua; Searles, Quinn; Dombert, Luke; Abdel-Razek, Osama; Yepuri, Natesh; Leonard, Antony; Gruessner, Angelika; Andrews, Penny; Fazal, Fabeha; Meng, Qinghe; Wang, Guirong; Gatto, Louis A; Habashi, Nader M; Nieman, Gary F

2017-12-01

Acute respiratory distress syndrome causes a heterogeneous lung injury with normal and acutely injured lung tissue in the same lung. Improperly adjusted mechanical ventilation can exacerbate ARDS causing a secondary ventilator-induced lung injury (VILI). We hypothesized that a peak airway pressure of 40 cmH 2 O (static strain) alone would not cause additional injury in either the normal or acutely injured lung tissue unless combined with high tidal volume (dynamic strain). Pigs were anesthetized, and heterogeneous acute lung injury (ALI) was created by Tween instillation via a bronchoscope to both diaphragmatic lung lobes. Tissue in all other lobes was normal. Airway pressure release ventilation was used to precisely regulate time and pressure at both inspiration and expiration. Animals were separated into two groups: (1) over-distension + high dynamic strain (OD + H DS , n = 6) and (2) over-distension + low dynamic strain (OD + L DS , n = 6). OD was caused by setting the inspiratory pressure at 40 cmH 2 O and dynamic strain was modified by changing the expiratory duration, which varied the tidal volume. Animals were ventilated for 6 h recording hemodynamics, lung function, and inflammatory mediators followed by an extensive necropsy. In normal tissue (N T ), OD + L DS caused minimal histologic damage and a significant reduction in BALF total protein (p < 0.05) and MMP-9 activity (p < 0.05), as compared with OD + H DS . In acutely injured tissue (ALI T ), OD + L DS resulted in reduced histologic injury and pulmonary edema (p < 0.05), as compared with OD + H DS . Both N T and ALI T are resistant to VILI caused by OD alone, but when combined with a H DS , significant tissue injury develops.

Redox proteomics analysis of HNE-modified proteins in Down syndrome brain: clues for understanding the development of Alzheimer disease.

PubMed

Di Domenico, Fabio; Pupo, Gilda; Tramutola, Antonella; Giorgi, Alessandra; Schininà, Maria Eugenia; Coccia, Raffaella; Head, Elizabeth; Butterfield, D Allan; Perluigi, Marzia

2014-06-01

Down syndrome (DS) is the most common genetic cause of intellectual disability, due to partial or complete triplication of chromosome 21. DS subjects are characterized by a number of abnormalities including premature aging and development of Alzheimer disease (AD) neuropathology after approximately 40 years of age. Several studies show that oxidative stress plays a crucial role in the development of neurodegeneration in the DS population. Increased lipid peroxidation is one of the main events causing redox imbalance within cells through the formation of toxic aldehydes that easily react with DNA, lipids, and proteins. In this study we used a redox proteomics approach to identify specific targets of 4-hydroxynonenal modifications in the frontal cortex from DS cases with and without AD pathology. We suggest that a group of identified proteins followed a specific pattern of oxidation in DS vs young controls, probably indicating characteristic features of the DS phenotype; a second group of identified proteins showed increased oxidation in DS/AD vs DS, thus possibly playing a role in the development of AD. The third group of comparison, DS/AD vs old controls, identified proteins that may be considered specific markers of AD pathology. All the identified proteins are involved in important biological functions including intracellular quality control systems, cytoskeleton network, energy metabolism, and antioxidant response. Our results demonstrate that oxidative damage is an early event in DS, as well as dysfunctions of protein-degradation systems and cellular protective pathways, suggesting that DS subjects are more vulnerable to oxidative damage accumulation that might contribute to AD development. Further, considering that the majority of proteins have been already demonstrated to be oxidized in AD brain, our results strongly support similarities with AD in DS. Copyright © 2014 Elsevier Inc. All rights reserved.

Validation of Risk Scoring System Excluding Female Sex From CHA2DS2-VASc in Japanese Patients With Nonvalvular Atrial Fibrillation – Subanalysis of the J-RHYTHM Registry.

PubMed

Tomita, Hirofumi; Okumura, Ken; Inoue, Hiroshi; Atarashi, Hirotsugu; Yamashita, Takeshi; Origasa, Hideki; Tsushima, Eiki

2015-01-01

Because the current Japanese guideline recommends CHADS2 score-based risk stratification in nonvalvular atrial fibrillation (NVAF) patients and does not list female sex as a risk for thromboembolic events, we designed the present study to compare the CHA2DS2-VASc and CHA2DS2-VA scores in the J-RHYTHM Registry. We prospectively assessed the incidence of thromboembolic events for 2 years in 997 NVAF patients without warfarin treatment (age 68±12 years, 294 females). The predictive value of the CHA2DS2-VASc and CHA2DS2-VA scores for thromboembolic events was evaluated by c-statistic difference and net reclassification improvement (NRI). Thromboembolic events occurred in 7/294 females (1.2%/year) and 23/703 males (1.6%/year) (odds ratio 0.72 for female to male, 95% confidence interval (CI) 0.28-1.62, P=0.44). No sex difference was found in patient groups stratified by CHA2DS2-VASc and CHA2DS2-VA scores. There were significant c-statistic difference (0.029, Z=2.3, P=0.02) and NRI (0.11, 95% CI 0.01-0.20, P=0.02), with the CHA2DS2-VA score being superior to the CHA2DS2-VASc score. In patients with CHA2DS2-VASc scores 0 and 1 (n=374), there were markedly significant c-statistic difference (0.053, Z=6.6, P<0.0001) and NRI (0.11, 95% CI 0.07-0.14, P<0.0001), again supporting superiority of CHA2DS2-VA to CHA2DS2-VASc score. In Japanese NVAF patients, the CHA2DS2-VA score, a risk scoring system excluding female sex from CHA2DS2-VASc, may be more useful in risk stratification for thromboembolic events than CHA2DS2-VASc score, especially in identifying truly low-risk patients.

Comparative Genomic Analysis of Phylogenetically Closely Related Hydrogenobaculum sp. Isolates from Yellowstone National Park

PubMed Central

Romano, Christine; D'Imperio, Seth; Woyke, Tanja; Mavromatis, Konstantinos; Lasken, Roger; Shock, Everett L.

2013-01-01

We describe the complete genome sequences of four closely related Hydrogenobaculum sp. isolates (≥99.7% 16S rRNA gene identity) that were isolated from the outflow channel of Dragon Spring (DS), Norris Geyser Basin, in Yellowstone National Park (YNP), WY. The genomes range in size from 1,552,607 to 1,552,931 bp, contain 1,667 to 1,676 predicted genes, and are highly syntenic. There are subtle differences among the DS isolates, which as a group are different from Hydrogenobaculum sp. strain Y04AAS1 that was previously isolated from a geographically distinct YNP geothermal feature. Genes unique to the DS genomes encode arsenite [As(III)] oxidation, NADH-ubiquinone-plastoquinone (complex I), NADH-ubiquinone oxidoreductase chain, a DNA photolyase, and elements of a type II secretion system. Functions unique to strain Y04AAS1 include thiosulfate metabolism, nitrate respiration, and mercury resistance determinants. DS genomes contain seven CRISPR loci that are almost identical but are different from the single CRISPR locus in strain Y04AAS1. Other differences between the DS and Y04AAS1 genomes include average nucleotide identity (94.764%) and percentage conserved DNA (80.552%). Approximately half of the genes unique to Y04AAS1 are predicted to have been acquired via horizontal gene transfer. Fragment recruitment analysis and marker gene searches demonstrated that the DS metagenome was more similar to the DS genomes than to the Y04AAS1 genome, but that the DS community is likely comprised of a continuum of Hydrogenobaculum genotypes that span from the DS genomes described here to an Y04AAS1-like organism, which appears to represent a distinct ecotype relative to the DS genomes characterized. PMID:23435891

Facet Joint Osteoarthritis Affects Spinal Segmental Motion in Degenerative Spondylolisthesis.

PubMed

Kitanaka, Shigeyuki; Takatori, Ryota; Arai, Yuji; Nagae, Masateru; Tonomura, Hitoshi; Mikami, Yasuo; Inoue, Nozomu; Ogura, Taku; Fujiwara, Hiroyoshi; Kubo, Toshikazu

2018-06-15

This is a retrospective clinical case series (case-control study). To clarify the influence of facet joint osteoarthritis (FJOA) on the pathology of degenerative spondylolisthesis (DS) using in vivo 3-dimensional image analysis. There are no radical treatments to prevent progression of DS in patients with lumbar spinal canal stenosis associated with DS. Therefore, an effective treatment method based on the pathology of DS should be developed. In total, 50 patients with lumbar spinal canal stenosis involving L4/5 who underwent dynamic computed tomography were divided into 2 groups: with DS [spondylolisthesis (Sp) group; 12 male, 14 female; mean age, 74 y]; and without DS (non-Sp group; 15 male, 9 female; mean age, 70 y). Degeneration of the intervertebral disk and FJOA at L4/5 were evaluated using magnetic resonance imaging. Disk and intervertebral foramen heights, the distance between the craniocaudal edges of the facet joint, and the interspinous distance were measured on dynamic computed tomographic images. Also, in vivo 3-dimensional segmental motion was evaluated using the volume merge method. There were no significant differences in degenerative findings for the intervertebral disk; however, progressive FJOA was detected in the Sp group. Dynamic changes in the distance between the craniocaudal edges of the facet joints were significantly larger in the Sp group. In this study, progressive FJOA and larger segmental motion in the distance between the craniocaudal edges of the facet joints were found in the Sp group. We clarified for the first time that DS involves ligament laxity due to FJOA that affects spinal segmental motion in vivo. We consider that a treatment method based on FJOA would be useful for treating patients with DS. Level IV.

Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities.

PubMed

Carter, John C; Capone, George T; Gray, Robert M; Cox, Christiane S; Kaufmann, Walter E

2007-01-05

The present study extends our previous work characterizing the behavioral features of autistic-spectrum disorder (ASD) in Down syndrome (DS) using the Aberrant Behavior Checklist (ABC) and Autism Behavior Checklist (AutBehav). We examined which specific behaviors distinguished the behavioral phenotype of DS + ASD from other aberrant behavior disorders in DS, by determining the relative contribution of ABC and AutBehav subscales and items to the diagnosis of ASD. A total of 127 subjects (aged 2-24 years; mean age: 8.4 years; approximately 70% male), comprising: a cohort of 64 children and adolescents with DS and co-morbid ASD (DS + ASD), 19 with DS and stereotypic movement disorder (DS + SMD), 18 with DS and disruptive behaviors (DS + DB), and 26 with DS and no co-morbid behavior disorders (DS + none) were examined using the aforementioned measures of aberrant behavior. We found that subjects with DS + ASD showed the most severe aberrant behavior, especially stereotypy compared to DS + none and lethargy/social withdrawal and relating problems compared to DS + SMD. Specifically, relatively simple stereotypic behavior differentiated DS + ASD from DS + DB, whereas odd/bizarre stereotypic and anxious behavior characterized DS + ASD relative to DS + SMD and DS + none. Additionally, in a subset of subjects with DS + ASD and anxiety, social withdrawal was particularly pronounced. Overall, our findings indicate that a diagnosis of DS + ASD represents a distinctive set of aberrant behaviors marked by characteristic odd/bizarre stereotypic behavior, anxiety, and social withdrawal.

Cognitive Profiles on the Severe Impairment Battery Are Similar in Alzheimer Disease and Down Syndrome With Dementia.

PubMed

Dick, Malcolm B; Doran, Eric; Phelan, Michael; Lott, Ira T

2016-01-01

Previous research has revealed similarities in the neuropathology, clinical presentation, and risk factors between persons with Alzheimer disease from the general population (GP-AD) and those with Down syndrome (DS-AD). Less is known, however, about the extent of similarities and differences in the cognitive profiles of these 2 populations. Fifty-one moderate to severely demented GP-AD and 59 DS-AD individuals participated in this study which compared the cognitive profiles of these 2 populations on the Severe Impairment Battery (SIB), controlling for sex as well as level of functional ability using a modified version of the Bristol Activities of Daily Living Scale. Overall, the neuropsychological profiles of the higher-functioning individuals within the DS-AD and advanced GP-AD groups, as represented by mean difference scores on the SIB as a whole and across the 9 separate cognitive domains, were very similar to one another after adjusting for sex and functional impairment. To our knowledge, this is the first study to directly compare the cognitive profiles of these 2 populations on the SIB. Findings suggest that the underlying dementia in GP-AD and DS-AD may have corresponding and parallel effects on cognition.

A Retrospective, Longitudinal, Claims-Based Comparison of Concomitant Diagnoses Between Individuals with and Without Down Syndrome.

PubMed

Kong, Amanda M; Hurley, Dana; Evans, Kristin A; Brixner, Diana; Csoboth, Csilla; Visootsak, Jeannie

2017-07-01

Individuals with Down syndrome (DS) experience various comorbidities in excess of the prevalence seen among the non-DS population. However, the extent of the excess burden of comorbidities specifically within commercially and publicly insured DS populations aged < 21 years is not currently known. To (a) describe the most common diagnoses among individuals with DS who have either commercial or Medicaid insurance and (b) compare the prevalence of those diagnoses between DS cases and non-DS controls. This was a longitudinal, retrospective study using health care claims of commercially insured and Medicaid-insured individuals in the Truven Health MarketScan Databases from 2008 to 2015. Individuals aged < 2, 2-5, 6-11, and 12-20 years with a DS diagnosis (cases; commercial: n = 15,948; Medicaid: n = 11,958) were matched to individuals without DS (controls; commercial: n = 47,844; Medicaid: n = 35,874) using a 1:3 ratio. The annual number of diagnoses was compared between cases and controls within age groups using t-tests, and the prevalence of the most common diagnoses was compared using chi-square tests. Cases in all age groups in both databases had more diagnoses annually than controls (mean =9-17 per year vs. 4-10 per year, P < 0.001), and the number of diagnoses decreased with age for cases and controls. Among the most common case diagnoses were upper respiratory infections (28.9%-59.1% vs. 19.5%-52.9%); suppurative otitis media (25.1%-56.8% vs. 8.7%-51.2%); nutrition/metabolic/developmental symptoms (37.9%-50.4% vs. 7.7%-10.6%); delays in development (22.8%-52.8% vs. 4.1%-10.9%); and general symptoms (35.1%-47.2% vs. 22.1%-37.2%), and the prevalence of each was greater among cases versus controls in all age groups in both databases (P < 0.001). The most common diagnoses among controls included some of the same as among cases, as well as acute pharyngitis (18.7%-31.8% vs. 19.2%-30.5%); allergic rhinitis (19.9%-24.3% vs. 15.3%-20.7%); viral/chlamydial infections (24.2%-26.6% vs. 17.7%-23.5%); and joint disorders (11.6% vs. 16.6%), and most were significantly more prevalent among cases (P < 0.05). Commercially insured and Medicaid-insured individuals aged < 21 years with DS experience a greater number and prevalence of concomitant diagnoses compared with non-DS individuals. Awareness of these common diagnoses could help facilitate the optimal care of these individuals by the pediatric health care community. This study was sponsored and funded by Genentech. Truven Health Analytics, an IBM Company, receives payment from Genentech to conduct research, including the research for this study. Truven Health Analytics also receives payment from other pharmaceutical companies to conduct research. Kong and Evans are employed by Truven Health Analytics. Csoboth is employed by Genentech. Brixner reports fees paid to the University of Utah by Truven Health Analytics on her behalf for work related to this study. Hurley reports fees from Genentech for work on this study and for work outside of this study. At the time of this study, Visootsak was employed by F. Hoffman-LaRoche Pharmaceuticals, parent company of Genentech. All authors, including those affiliated with the study sponsor, were involved in the design of the study, interpretation of the data, writing of the manuscript, and the decision to submit the manuscript for publication. Study concept and design were contributed by Kong, Hurley, and Brixner, along with Evans. Kong and Evans collected the data, and data interpretation was performed by Csoboth, Visootsak, Brixner, and Hurley, with assistance from Kong. The manuscript was written by Evans, Kong, Hurley, and Brixner and revised by Kong, Hurley, Evans, and Brixner, with assistance from Csoboth and Visootsak.

Accelerometer-determined physical activity and walking capacity in persons with Down syndrome, Williams syndrome and Prader-Willi syndrome.

PubMed

Nordstrøm, Marianne; Hansen, Bjørge Herman; Paus, Benedicte; Kolset, Svein Olav

2013-12-01

In this study we describe by use of accelerometers the total physical activity (PA), intensity pattern and walking capacity in 87 persons age 16-45 years with Down syndrome (DS), Williams syndrome (WS) and Prader-Willi syndrome (PWS). Participants were recruited from all over Norway, and lived either with their parents or in community residences with support. On average the participants generated 294 counts per minute (cpm) or 6712 steps per day, with most of the day spent in sedentary activity, 522 min/day, followed by 212 min/day in light PA, 71 min/day in lifestyle activity and 27 min/day in moderate-to-vigorous physical activity (MVPA). Inactivity was prevalent, as only 12% meet the current Nordic recommendations for PA. When compared, no differences for total physical activity or time in MVPA were observed between the three groups. However, participant with DS spent a mean of 73 min/day less and 43 min/day less in sedentary activities compared to participants with PWS and WS, respectively, (p=0.011, 95% CI: -10.9; -80.1). In addition the DS-group spent a mean of 66 min/day more in light PA than the PWS-group and 41 min/day more than the WS-group, (p<0.001, 95% CI: 29.3; 79.7). Participants with PWS spent on average 30 min/day less in lifestyle activities compared to both participants with DS and WS, (p<0.001, 95% CI: -14.2; -45.4). No association between total PA and BMI were observed. Males were more active than females across all diagnoses. Males accumulated on average 85 counts per minutes more than females, (p=0.002, 95% CI: 33.3; 136.7), 2137 more steps per day, (p=0.002, 95% CI: 778; 3496). The mean walking capacity during six-minutes was 507 m (SD 112 m) for males and 466 m (SD 88 m) for females. Distance walked during testing decreased with 33.6 m when comparing normal or underweight participants to overweight participants, and 78.1 m when comparing overweight to obese participants (p<0.001 95% CI: -40.4; -85.8). When adjusted for BMI no differences in walking capacity between the three genetic conditions were observed. Copyright © 2013 The Authors. Published by Elsevier Ltd.. All rights reserved.

COgnitive behavioural therapy vs standardised medical care for adults with Dissociative non-Epileptic Seizures (CODES): a multicentre randomised controlled trial protocol.

PubMed

Goldstein, Laura H; Mellers, John D C; Landau, Sabine; Stone, Jon; Carson, Alan; Medford, Nick; Reuber, Markus; Richardson, Mark; McCrone, Paul; Murray, Joanna; Chalder, Trudie

2015-06-27

The evidence base for the effectiveness of psychological interventions for patients with dissociative non-epileptic seizures (DS) is currently extremely limited, although data from two small pilot randomised controlled trials (RCTs), including from our group, suggest that Cognitive Behavioural Therapy (CBT) may be effective in reducing DS occurrence and may improve aspects of psychological status and psychosocial functioning. The study is a multicentre, pragmatic parallel group RCT to evaluate the clinical and cost-effectiveness of specifically-tailored CBT plus standardised medical care (SMC) vs SMC alone in reducing DS frequency and improving psychological and health-related outcomes. In the initial screening phase, patients with DS will receive their diagnosis from a neurologist/epilepsy specialist. If patients are eligible and interested following the provision of study information and a booklet about DS, they will consent to provide demographic information and fortnightly data about their seizures, and agree to see a psychiatrist three months later. We aim to recruit ~500 patients to this screening stage. After a review three months later by a psychiatrist, those patients who have continued to have DS in the previous eight weeks and who meet further eligibility criteria will be told about the trial comparing CBT + SMC vs SMC alone. If they are interested in participating, they will be given a further booklet on DS and study information. A research worker will see them to obtain their informed consent to take part in the RCT. We aim to randomise 298 people (149 to each arm). In addition to a baseline assessment, data will be collected at 6 and 12 months post randomisation. Our primary outcome is monthly seizure frequency in the preceding month. Secondary outcomes include seizure severity, measures of seizure freedom and reduction, psychological distress and psychosocial functioning, quality of life, health service use, cost effectiveness and adverse events. We will include a nested qualitative study to evaluate participants' views of the intervention and factors that acted as facilitators and barriers to participation. This study will be the first adequately powered evaluation of CBT for this patient group and offers the potential to provide an evidence base for treating this patient group. Current Controlled Trials ISRCTN05681227 ClinicalTrials.gov NCT02325544.

Child-feeding practices in children with down syndrome and their siblings.

PubMed

O'Neill, Kristen L; Shults, Justine; Stallings, Virginia A; Stettler, Nicolas

2005-02-01

To compare parental feeding practices and evaluate their relationship to weight status among children with Down syndrome (DS) and their unaffected siblings. Cross-sectional study of sibling pairs, one child with DS (n = 36) and one child without DS (n = 36), between 3 and 10 years of age. Parents completed the Child Feeding Questionnaire (CFQ), which assesses six aspects of control in feeding, separately for each child. Children's height and weight were measured using standard research procedures for calculation of body mass index (BMI) and BMI Z scores (BMIZ). Mean BMIZ was higher among children with DS than their siblings (1.1 +/- 0.9 vs 0.1 +/- 1.1; P <.001), but there were no between-group differences in parents' perception of children's weight status. Parents reported greater use of restriction, greater feelings of responsibility for feeding and concern about child weight status, and lower pressure to eat for children with DS than for their siblings. After adjustment for BMIZ, differences remained significant only for concern (10.6 +/- 3.5 vs 6.4 +/- 3.4; P <.002). Perceived child overweight and concern were positively associated with BMIZ, whereas pressure was inversely associated with BMIZ. Differences in child-feeding practices may play a role in the development of obesity in DS.

Joint Effects of Granule Size and Degree of Substitution on Octenylsuccinated Sweet Potato Starch Granules As Pickering Emulsion Stabilizers.

PubMed

Li, Jinfeng; Ye, Fayin; Lei, Lin; Zhou, Yun; Zhao, Guohua

2018-05-02

The granules of sweet potato starch were size fractionated into three portions with significantly different median diameters ( D 50 ) of 6.67 (small-sized), 11.54 (medium-sized), and 16.96 μm (large-sized), respectively. Each portion was hydrophobized at the mass-based degrees of substitution (DS m ) of approximately 0.0095 (low), 0.0160 (medium), and 0.0230 (high). The Pickering emulsion-stabilizing capacities of modified granules were tested, and the resultant emulsions were characterized. The joint effects of granule size and DS m on emulsifying capacity (EC) were investigated by response surface methodology. For small-, medium-, and large-sized fractions, their highest emulsifying capacities are comparable but, respectively, encountered at high (0.0225), medium (0.0158), and low (0.0095) DS m levels. The emulsion droplet size increased with granule size, and the number of freely scattered granules in emulsions decreased with DS m . In addition, the term of surface density of the octenyl succinic group (SD -OSG ) was first proposed for modified starch granules, and it was proved better than DS m in interpreting the emulsifying capacities of starch granules with varying sizes. The present results implied that, as the particulate stabilizers, the optimal DS m of modified starch granules is size specific.

Reduced NoGo-anteriorisation during continuous performance test in deletion syndrome 22q11.2.

PubMed

Romanos, Marcel; Ehlis, Ann-Christine; Baehne, Christina G; Jacob, Christian; Renner, Tobias J; Storch, Astrid; Briegel, Wolfgang; Walitza, Susanne; Lesch, Klaus-Peter; Fallgatter, Andreas J

2010-09-01

Deletion syndrome 22q11.2 (DS22q11.2) is a high-risk factor for psychiatric disorders. Alterations in brain morphology and function including the anterior cingulate cortex (ACC) are suggested to underlie the increased psychiatric disposition. We assessed response-inhibition in patients with DS22q11.2 (n=13) and healthy controls (n=13) matched for age, sex, and handedness by means of a Go-NoGo-Task during recording of a multi-channel electroencephalography (EEG). Analysis of event-related potentials (P300) resulted in an aberrant topographical pattern and NoGo-anteriorisation (NGA) as a parameter of medial prefrontal function was significantly reduced in patients with DS22q11.2 compared to controls. Differences in IQ between groups did not account for the findings. Source localization analysis (LORETA) revealed diminished left temporal brain activation during the Go-condition, but no altered ACC activation in DS22q11 during the NoGo-condition. Despite recent reports of structural alterations of the ACC in DS22q11.2 our findings suggest that response-inhibition mediated by the ACC is not impaired in DS22q11.2. Copyright (c) 2010 Elsevier Ltd. All rights reserved.

Primary and Secondary Stroke Prevention Using Left Atrial Appendage Closure with Watchman Devices in Atrial Fibrillation Patients: A Single Center Experience from Mainland China.

PubMed

Chen, Yanhong; Zhang, Yonghua; Huang, Weiping; Huang, Keqiang; Xu, Bei; Su, X I

2017-06-01

Atrial fibrillation (AF) is associated with increased stroke risk resulting from cardiac embolism of the left atrial appendage (LAA). Stroke tends to recur in NVAF patients. Yet safety and feasibility of secondary stroke preventions with LAA closure (LAAC) have not been assessed in detail. This retrospective study was designed to compare the feasibility and safety of LAAC in primary and secondary stroke preventions, in a real-world setting of Chinese patients. From 2014 to 2015, non-valvular AF patients with CHA2DS2-VASc ≥1 were selected for percutaneous LAAC operations. Outcome observations of primary and secondary stroke preventions with Watchman devices were analyzed and compared. Overall, 122 patients were included. LAAC with Watchman devices were attempted in 115 patients, of whom 68 were for primary stroke prevention and 47 were for secondary prevention. Both the CHA2DS2-VASc score and the HASBLED score were significantly higher in the secondary prevention group (4.09 ± 1.06 vs. 1.93 ± 1.09 for CHA2DS2-VASc and 1.83 ± 1.03 vs. 1.26 ± 0.87 for HASBLED, P < 0.01). In both groups LAAC were achieved with high successful rate (98.53% in the primary prevention group and 100% in the secondary prevention group, P > 0.05) and low complication rates. The stroke rates were at a low level in both groups (1.47% in primary prevention group vs. 2.13% in secondary prevention group, P > 0.05). In our initial single-center experience, percutaneous LAA closure was a feasible and safe procedure for both primary and secondary stroke preventions in Chinese patients with nonvalvular AF. © 2017 Wiley Periodicals, Inc.

Neurocognitive Impairments in Deficit and Non-Deficit Schizophrenia and Their Relationships with Symptom Dimensions and Other Clinical Variables

PubMed Central

Zhang, XiangRong; Zhang, XiaoBin; Sha, WeiWei; Yao, ShuQiao; Shu, Ni; Zhang, XiangYang; Zhang, ZhiJun

2015-01-01

Background Deficit schizophrenia (DS) has been proposed as a pathophysiologically distinct subgroup within schizophrenia. Earlier studies focusing on neurocognitive function of DS patients have yielded inconsistent findings ranging from substantial deficits to no significant difference relative to non-deficit schizophrenia patients (NDS). The present study investigated the severity and characteristic patterns of neurocognitive impairments in DS and NDS patients and their relationships with clinical variables. Methods Attention, ideation fluency, cognitive flexibility and visuospatial memory function were assessed in 40 DS patients, 57 NDS patients, and 52 healthy controls by a comprehensive neuropsychological battery. Results Both schizophrenia subgroups had overall more severe cognitive impairments than controls while DS performed worse on every neuropsychological measure except the Stroop interference than the NDS patients with age and education as the covariates. Profile analysis found significantly different patterns of cognitive profiles between two patients group mainly due to their differences in attention and cognitive flexibility functions. Age, education, illness duration and negative symptoms were found to have the correlations with cognitive impairments in the NDS group, while only age and the negative symptoms were correlated with the cognitive impairments in the DS group. Multiple regression analyses revealed that sustained attention and cognitive flexibility were the core impaired cognitive domains mediating other cognitive functions in DS and NDS patients respectively. Conclusions DS patients exemplified worse in almost all cognitive domains than NDS patients. Sustained attention and cognitive flexibility might be the key impaired cognitive domains for DS and NDS patients respectively. The present study suggested the DS as a specific subgroup of schizophrenia. PMID:26381645

Neurocognitive Impairments in Deficit and Non-Deficit Schizophrenia and Their Relationships with Symptom Dimensions and Other Clinical Variables.

PubMed

Yu, Miao; Tang, XiaoWei; Wang, Xiang; Zhang, XiangRong; Zhang, XiaoBin; Sha, WeiWei; Yao, ShuQiao; Shu, Ni; Zhang, XiangYang; Zhang, ZhiJun

2015-01-01

Deficit schizophrenia (DS) has been proposed as a pathophysiologically distinct subgroup within schizophrenia. Earlier studies focusing on neurocognitive function of DS patients have yielded inconsistent findings ranging from substantial deficits to no significant difference relative to non-deficit schizophrenia patients (NDS). The present study investigated the severity and characteristic patterns of neurocognitive impairments in DS and NDS patients and their relationships with clinical variables. Attention, ideation fluency, cognitive flexibility and visuospatial memory function were assessed in 40 DS patients, 57 NDS patients, and 52 healthy controls by a comprehensive neuropsychological battery. Both schizophrenia subgroups had overall more severe cognitive impairments than controls while DS performed worse on every neuropsychological measure except the Stroop interference than the NDS patients with age and education as the covariates. Profile analysis found significantly different patterns of cognitive profiles between two patients group mainly due to their differences in attention and cognitive flexibility functions. Age, education, illness duration and negative symptoms were found to have the correlations with cognitive impairments in the NDS group, while only age and the negative symptoms were correlated with the cognitive impairments in the DS group. Multiple regression analyses revealed that sustained attention and cognitive flexibility were the core impaired cognitive domains mediating other cognitive functions in DS and NDS patients respectively. DS patients exemplified worse in almost all cognitive domains than NDS patients. Sustained attention and cognitive flexibility might be the key impaired cognitive domains for DS and NDS patients respectively. The present study suggested the DS as a specific subgroup of schizophrenia.

Visual and Quantitative Assessment of Coronary Stenoses at Angiography Versus Fractional Flow Reserve: The Impact of Risk Factors.

PubMed

Adjedj, Julien; Xaplanteris, Panagiotis; Toth, Gabor; Ferrara, Angela; Pellicano, Mariano; Ciccarelli, Giovanni; Floré, Vincent; Barbato, Emanuele; De Bruyne, Bernard

2017-07-01

The correlation between angiographic assessment of coronary stenoses and fractional flow reserve (FFR) is weak. Whether and how risk factors impact the diagnostic accuracy of angiography is unknown. We sought to evaluate the diagnostic accuracy of angiography by visual estimate and by quantitative coronary angiography when compared with FFR and evaluate the influence of risk factors (RF) on this accuracy. In 1382 coronary stenoses (1104 patients), percent diameter stenosis by visual estimation (DS VE ) and by quantitative coronary angiography (DS QCA ) was compared with FFR. Patients were divided into 4 subgroups, according to the presence of RFs, and the relationship between DS VE , DS QCA , and FFR was analyzed. Overall, DS VE was significantly higher than DS QCA ( P <0.0001); nonetheless, when examined by strata of DS, DS VE was significantly smaller than DS QCA in mild stenoses, although the reverse held true for severe stenoses. Compared with FFR, a large scatter was observed for both DS VE and DS QCA . When using a dichotomous FFR value of 0.80, C statistic was significantly higher for DS VE than for DS QCA (0.712 versus 0.640, respectively; P <0.001). C statistics for DS VE decreased progressively as RFs accumulated (0.776 for ≤1 RF, 0.750 for 2 RFs, 0.713 for 3 RFs and 0.627 for ≥4 RFs; P =0.0053). In addition, in diabetics, the relationship between FFR and angiographic indices was particularly weak (C statistics: 0.524 for DS VE and 0.511 for DS QCA ). Overall, DS VE has a better diagnostic accuracy than DS QCA to predict the functional significance of coronary stenosis. The predictive accuracy of angiography is moderate in patients with ≤1 RFs, but weakens as RFs accumulate, especially in diabetics. © 2017 American Heart Association, Inc.

The Role of Executive Functions in Social Cognition among Children with Down Syndrome: Relationship Patterns

PubMed Central

Amadó, Anna; Serrat, Elisabet; Vallès-Majoral, Eduard

2016-01-01

Many studies show a link between social cognition, a set of cognitive and emotional abilities applied to social situations, and executive functions in typical developing children. Children with Down syndrome (DS) show deficits both in social cognition and in some subcomponents of executive functions. However this link has barely been studied in this population. The aim of this study is to investigate the links between social cognition and executive functions among children with DS. We administered a battery of social cognition and executive function tasks (six theory of mind tasks, a test of emotion comprehension, and three executive function tasks) to a group of 30 participants with DS between 4 and 12 years of age. The same tasks were administered to a chronological-age control group and to a control group with the same linguistic development level. Results showed that apart from deficits in social cognition and executive function abilities, children with DS displayed a slight improvement with increasing chronological age and language development in those abilities. Correlational analysis suggested that working memory was the only component that remained constant in the relation patterns of the three groups of participants, being the relation patterns similar among participants with DS and the language development control group. A multiple linear regression showed that working memory explained above 50% of the variability of social cognition in DS participants and in language development control group, whereas in the chronological-age control group this component only explained 31% of the variability. These findings, and specifically the link between working memory and social cognition, are discussed on the basis of their theoretical and practical implications for children with DS. We discuss the possibility to use a working memory training to improve social cognition in this population. PMID:27679588

Antagonism of NMDA receptors as a potential treatment for Down syndrome: a pilot randomized controlled trial

PubMed Central

Boada, R; Hutaff-Lee, C; Schrader, A; Weitzenkamp, D; Benke, T A; Goldson, E J; Costa, A C S

2012-01-01

Down syndrome (DS) is the most common genetic cause of intellectual disability. The N-methyl-D-aspartate (NMDA) receptor uncompetitive antagonist, memantine hydrochloride (memantine), has been shown to improve learning/memory and rescue one form of hippocampus synaptic plasticity dysfunction in the best-studied mouse model of DS available, the Ts65Dn mouse. Given the status of memantine as a treatment for Alzheimer's disease (AD) approved by the Food and Drug Administration, the preclinical evidence of potential efficacy in Ts65Dn mice, and the favorable safety profile of memantine, we designed a study to investigate whether the findings in the mouse model could be translated to individuals with DS. In this pilot, proof-of-principle study we hypothesized that memantine therapy would improve test scores of young adults with DS on measures of episodic and spatial memory, which are generally considered to be hippocampus dependent. Accordingly, in this randomized, double-blind, placebo-controlled trial, we compared the effect of 16-week treatment with either memantine or placebo on cognitive and adaptive functions of 40 young adults with DS using a carefully selected set of neuropsychological outcome measures. Safety and tolerability were also monitored. Although no significant differences were observed between the memantine and placebo groups on the two primary outcome measures, we found a significant improvement in the memantine group in one of the secondary measures associated with the primary hypothesis. Only infrequent and mild adverse events were noted. PMID:22806212

Striatal dopamine release and impaired reinforcement learning in adults with 22q11.2 deletion syndrome.

PubMed

van Duin, Esther D A; Kasanova, Zuzana; Hernaus, Dennis; Ceccarini, Jenny; Heinzel, Alexander; Mottaghy, Felix; Mohammadkhani-Shali, Siamak; Winz, Oliver; Frank, Michael; Beck, Merrit C H; Booij, Jan; Myin-Germeys, Inez; van Amelsvoort, Thérèse

2018-06-01

22q11.2 deletion syndrome (22q11DS) is a genetic disorder caused by a microdeletion on chromosome 22q11.2 and associated with an increased risk for developing psychosis. The catechol-O-methyltransferase (COMT) gene is located in the deleted region and involved in dopamine (DA) breakdown. Impaired reinforcement learning (RL) is a recurrent feature in psychosis and thought to be related to abnormal striatal DA function. This study aims to examine RL and the potential association with striatal DA-ergic neuromodulation in 22q11DS. Twelve non-psychotic adults with 22q11DS and 16 healthy controls (HC) were included. A dopamine D 2/3 receptor [ 18 F]fallypride positron emission tomography (PET) scan was acquired while participants performed a modified version of the probabilistic stimulus selection task. RL-task performance was significantly worse in 22q11DS compared to HC. There were no group difference in striatal nondisplaceable binding potential (BP ND ) and task-induced DA release. In HC, striatal task-induced DA release was positively associated with task performance, but no such relation was found in 22q11DS subjects. Moreover, higher caudate nucleus task-induced DA release was found in COMT Met hemizygotes relative to Val hemizygotes. This study is the first to show impairments in RL in 22q11DS. It suggests that potentially motivational impairments are not only present in psychosis, but also in this genetic high risk group. These deficits may be underlain by abnormal striatal task-induced DA release, perhaps as a consequence of COMT haplo-insufficiency. Copyright © 2018 Elsevier B.V. and ECNP. All rights reserved.

Association of COMT and PRODH gene variants with intelligence quotient (IQ) and executive functions in 22q11.2DS subjects.

PubMed

Carmel, Miri; Zarchi, Omer; Michaelovsky, Elena; Frisch, Amos; Patya, Miriam; Green, Tamar; Gothelf, Doron; Weizman, Abraham

2014-09-01

The 22q11.2 deletion syndrome (22q11.2DS) carries the highest genetic risk factor for the development of schizophrenia. We investigated the association of genetic variants in two schizophrenia candidate genes with executive function (EF) and IQ in 22q11.2DS individuals. Ninety two individuals with 22q11.2 deletion were studied for the genetic association between COMT and PRODH variants and EF and IQ. Subjects were divided into children (under 12 years old), adolescents (between 12 and 18 years old) and adults (older than 18 years), and genotyped for the COMT Val158Met (rs4680) and PRODH Arg185Trp (rs4819756) polymorphisms. The participants underwent psychiatric evaluation and EF assessment. Our main finding is a significant influence of the COMT Val158Met polymorphism on both IQ and EF performance. Specifically, 22q11.2DS subjects with Met allele displayed higher IQ scores in all age groups compared to Val carriers, reaching significance in both adolescents and adults. The Met allele carriers performed better than Val carriers in EF tasks, being statistically significant in the adult group. PRODH Arg185Trp variant did not affect IQ or EF in our 22q11.2DS cohort. In conclusion, functional COMT variant, but not PRODH, affects IQ and EF in 22q11.2DS subjects during neurodevelopment with a maximal effect at adulthood. Future studies should monitor the cognitive performance of the same individuals from childhood to old age. Copyright © 2014 Elsevier Ltd. All rights reserved.

Measurement of anterior tibial muscle size using real-time ultrasound imaging.

PubMed

Martinson, H; Stokes, M J

1991-01-01

Cross-sectional images of the anterior tibial muscle group were obtained using real-time ultrasound scanning in 17 normal women. From photographs taken of the images, the cross-sectional area (CSA) and two linear measurements of muscle cross-section were determined. A measurement of the shortest distance of the muscle depth was termed DS, and a measurement of the longest distance through the muscle group was termed DL. Both linear dimensions showed a positive correlation with CSA and the best correlations were obtained when the dimensions were squared or combined (DS x DL). The correlation values were: CSA vs DS2, r = 0.9; CSA vs DL2, r = 0.75 and CSA vs DS x DL, r = 0.88. An approximate value for CSA could be calculated from DS2 by the equation 2 x DS2 + 1. A shape ratio, obtained by dividing DL by DS, was consistent within the group [mean 2.1 (SD 0.2)] and characterised the muscle geometrically. The CSA of repeated scans was assessed for repeatability between-days and between-scans by analysis of variance and the coefficient of variation (CV) calculated. Areas were repeatable between-days (CV 6.5%) and between-scans (CV 3.6%). Linear dimensions of the anterior tibial muscle group reflected CSA and their potential for assessing changes in muscle size with atrophy and hypertrophy have yet to be established.

Comparison of the yield of tuberculosis among contacts of multidrug-resistant and drug-sensitive tuberculosis patients in Ethiopia using GeneXpert as a primary diagnostic test.

PubMed

Hiruy, Nebiyu; Melese, Muluken; Habte, Dereje; Jerene, Degu; Gashu, Zewdu; Alem, Genetu; Jemal, Ilili; Tessema, Belay; Belayneh, Beza; Suarez, Pedro G

2018-06-01

This study compared the yield of tuberculosis (TB) among contacts of multidrug-resistant tuberculosis (MDR-TB) index cases with that in drug-sensitive TB (DS-TB) index cases in a program setting. A comparative cross-sectional study was conducted among contacts of sputum smear-positive new DS-TB index cases and MDR-TB index cases. After contacts were screened, GeneXpert was used for the diagnosis of TB. The study included 111 MDR-TB and 119 DS-TB index cases. A total of 340 and 393 contacts of MDR-TB and DS-TB index cases, respectively, were traced, of whom 331 among MDR-TB contacts and 353 among DS-TB contacts were screened. There were 20 (6%) presumptive TB cases for MDR-TB contacts and 41 (11%) for DS-TB contacts. The prevalence of TB among MDR-TB contacts was 2.7% and among DS-TB contacts was 4.0%. The majority of the MDR-TB contacts diagnosed with TB had MDR-TB; the reverse was true for DS-TB. The yield of TB among contacts of MDR-TB and DS-TB patients using GeneXpert was high as compared to the population-level prevalence. The likelihood of diagnosing rifampicin-resistant TB among contacts of MDR-TB index cases was higher in comparison with contacts of DS-TB index cases. The use of GeneXpert in DS-TB contact investigation has the added advantage of diagnosing rifampicin-resistant TB cases when compared to the use of the nationally recommended acid-fast bacillus (AFB) microscopy for DS-TB contact investigation. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

Cost study of dermal substitutes and topical negative pressure in the surgical treatment of burns.

PubMed

Hop, M Jenda; Bloemen, Monica C T; van Baar, Margriet E; Nieuwenhuis, Marianne K; van Zuijlen, Paul P M; Polinder, Suzanne; Middelkoop, Esther

2014-05-01

A recently performed randomised controlled trial investigated the clinical effectiveness of dermal substitutes (DS) and split skin grafts (SSG) in combination with topical negative pressure (TNP) in the surgical treatment of burn wounds. In the current study, medical and non-medical costs were investigated, to comprehensively assess the benefits of this new treatment. The primary outcome was mean total costs of the four treatment strategies: SSG with or without DS, and with or without TNP. Costs were studied from a societal perspective. Findings were evaluated in light of the clinical effects on scar elasticity. Eighty-six patients were included. Twelve months post-operatively, highest elasticity was measured in scars treated with DS and TNP (p=0.027). The initial cost price of treatment with DS and TNP was €2912 compared to treatment with SSG alone €1703 (p<0.001). However, mean total costs per patient did not differ significantly between groups (range €29097-€43774). Costs of the interventional treatment contributed maximal 7% to the total costs and total costs varied widely within and between groups, but were not significantly different. Therefore, in the selection of the most optimal type of surgical intervention, cost considerations should not play an important role. Copyright © 2013 Elsevier Ltd and ISBI. All rights reserved.

RNA interference tools for the western flower thrips, Frankliniella occidentalis.

PubMed

Badillo-Vargas, Ismael E; Rotenberg, Dorith; Schneweis, Brandi A; Whitfield, Anna E

2015-05-01

The insect order Thysanoptera is exclusively comprised of small insects commonly known as thrips. The western flower thrips, Frankliniella occidentalis, is an economically important pest amongst thysanopterans due to extensive feeding damage and tospovirus transmission to hundreds of plant species worldwide. Geographically-distinct populations of F. occidentalis have developed resistance against many types of traditional chemical insecticides, and as such, management of thrips and tospoviruses are a persistent challenge in agriculture. Molecular methods for defining the role(s) of specific genes in thrips-tospovirus interactions and for assessing their potential as gene targets in thrips management strategies is currently lacking. The goal of this work was to develop an RNA interference (RNAi) tool that enables functional genomic assays and to evaluate RNAi for its potential as a biologically-based approach for controlling F. occidentalis. Using a microinjection system, we delivered double-stranded RNA (dsRNA) directly to the hemocoel of female thrips to target the vacuolar ATP synthase subunit B (V-ATPase-B) gene of F. occidentalis. Gene expression analysis using real-time quantitative reverse transcriptase-PCR (qRT-PCR) revealed significant reductions of V-ATPase-B transcripts at 2 and 3 days post-injection (dpi) with dsRNA of V-ATPase-B compared to injection with dsRNA of GFP. Furthermore, the effect of knockdown of the V-ATPase-B gene in females at these two time points was mirrored by the decreased abundance of V-ATPase-B protein as determined by quantitative analysis of Western blots. Reduction in V-ATPase-B expression in thrips resulted in increased female mortality and reduced fertility, i.e., number of viable offspring produced. Survivorship decreased significantly by six dpi compared to the dsRNA-GFP control group, which continued decreasing significantly until the end of the bioassay. Surviving female thrips injected with dsRNA-V-ATPase-B produced significantly fewer offspring compared to those in the dsRNA-GFP control group. Our findings indicate that an RNAi-based strategy to study gene function in thrips is feasible, can result in quantifiable phenotypes, and provides a much-needed tool for investigating the molecular mechanisms of thrips-tospovirus interactions. To our knowledge, this represents the first report of RNAi for any member of the insect order Thysanoptera and demonstrates the potential for translational research in the area of thrips pest control. Copyright © 2015 Elsevier Ltd. All rights reserved.

Identifying patterns of anxiety and depression in children with chromosome 22q11.2 deletion syndrome: Comorbidity predicts behavioural difficulties and impaired functional communications

PubMed Central

Stephenson, David D.; Beaton, Elliott A.; Weems, Carl F.; Angkustsiri, Kathleen; Simon, Tony J.

2014-01-01

Background Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a complex genetic disorder with a variable clinical presentation that can include cardiac, neural, immunological, and psychological issues. Previous studies have measured elevated anxiety and depression in children with 22q11.2DS. Comorbity of anxiety and depression is well established in the pediatric literature but the nature of comorbidity patterns has not been empirically established in children with 22q11.2DS. Comorbidity of anxiety and depression has important implications for treatment and prognosis, and may be a marker of risk in this population of children at high-risk for developing schizophrenia. Method Participants were 131 boys and girls ages 8 to 14 with (n = 76) and without (n = 55) 22q11.2DS and their mothers. Children and mothers independently completed self- and parent-report measures of anxiety and depression. Mothers also completed measures of behavioural functioning including the Behavioral Assessment for Children, 2nd ed. (BASC-2). Cluster analyses were conducted to test if theoretically based groupings of anxiety and depression could be identified. We hypothesized four psychological profiles based on child- and mother-reports: low/no anxiety and low/no depression, higher depression and low/no anxiety, higher anxiety and no/low depression, and a comorbid profile of higher anxiety and higher depression. BASC-2 subscale scores were then compared across subgroups of children to determine if a comorbid profile would predict greater behavioural difficulties. Results In the full sample of children both with and without 22q11.2DS, cluster analyses of self and maternal reported anxiety and depression revealed the expected subgroups: 1) a group of children with higher anxiety/lower depression (anxious); 2) a group with primary depression (lower anxiety/higher depression (depressed); 3) a comorbid group with higher anxiety/higher depression (comorbid); and, 4) a lowest anxiety/lowest depression group (NP). Mothers’ reports produced highly similar groupings. Furthermore, the 22q11.2DS youth were more likely to be in anxiety, depressed or comorbid clusters than the typically developing (TD) youth. Children with 22q11.2DS comorbid for anxiety and depression exhibited the worst functional outcomes (e.g., poor poorer functional communication, and reduced daily life activities). Conclusions Anxiety, comorbid with depression may be of particular concern in children with 22q11.2DS who arguably carry a greater burden on their stress coping resources than children without a complex genetic disorder. Furthermore, the manifestation of negative mood, anxiety and difficult behavior is likely to reverberate between the child and her or his environment. This can lead to negative interactions with family, peers, and teachers, which in turn further taxes coping resources. Comorbidity of anxiety and depression within a vulnerable population highlights the need for the development of tailored interventions. PMID:24906195

Brain training in older adults: evidence of transfer to memory span performance and pseudo-Matthew effects.

PubMed

McDougall, Siné; House, Becky

2012-01-01

In this study the effects of 'brain training' using the Nintendo DS Brain Training program were examined in two groups of older adults; the cognitive performance of an experimental group (n = 21) who were asked to use the Nintendo DS regularly over a 6-week period was compared with the control group (n = 20). Groups were matched on age (mean age = 74 years), education, computer experience, daily activities (time spent reading or watching television), and initial scores of Wechsler Adult Intelligence Scale. Analyses revealed that improvements were primarily in the Digit Span Test, specifically Digits Backwards. Although the Brain Training package appeared to have some efficacy, other factors such as perceived quality of life and perceived cognitive functioning were at least equally important in determining training outcomes. The implications of these findings for cognitive training are discussed.

Referential communication abilities in children with 22q11.2 deletion syndrome.

PubMed

Van Den Heuvel, Ellen; ReuterskiöLd, Christina; Solot, Cynthia; Manders, Eric; Swillen, Ann; Zink, Inge

2017-10-01

This study describes the performance on a perspective- and role-taking task in 27 children, ages 6-13 years, with 22q11.2 deletion syndrome (22q11.2DS). A cross-cultural design comparing Dutch- and English-speaking children with 22q11.2DS explored the possibility of cultural differences. Chronologically age-matched and younger typically developing (TD) children matched for receptive vocabulary served as control groups to identify challenges in referential communication. The utterances of children with 22q11.2DS were characterised as short and simple in lexical and grammatical terms. However, from a language use perspective, their utterances were verbose, ambiguous and irrelevant given the pictured scenes. They tended to elaborate on visual details and conveyed off-topic, extraneous information when participating in a barrier-game procedure. Both types of aberrant utterances forced a listener to consistently infer the intended message. Moreover, children with 22q11.2DS demonstrated difficulty selecting correct speech acts in accordance with contextual cues during a role-taking task. Both English- and Dutch-speaking children with 22q11.2DS showed impoverished information transfer and an increased number of elaborations, suggesting a cross-cultural syndrome-specific feature.

Differences between clinical and laboratory findings in patients with recent diagnosis of SLE according to the positivity of anti-dsDNA by the Crithidia luciliae method.

PubMed

Sarbu, M I; Salman-Monte, T C; Rubio Muñoz, P; Lisbona, M P; Almirall Bernabé, M; Carbonell, J

2015-10-01

Of all anti-dsDNA antibody detection methods, the Crithidia luciliae immunofluorescence test (CLIF) is considered to have the highest specificity for systemic lupus erythematosus (SLE). The objective of this report is to evaluate whether the presence of anti-dsDNA antibodies detected by the CLIF method is associated with a specific clinical phenotype in recently diagnosed SLE. This retrospective cross-sectional study included all patients with newly diagnosed SLE between 1990 and 2011 and followed up in our institution. Demographic, clinical and laboratory findings were assessed. Correlations between positivity of anti-dsDNA by the CLIF method, clinical and laboratory data were analyzed. A total of 104 patients were included in the analysis. Patients who were positive for anti-dsDNA by the CLIF method at the time of diagnosis had (statistically) significantly higher titers of anti-dsDNA by the ELISA method, antinuclear (ANA) and anticardiolipin antibodies, lymphopenia and complement consumption compared with the other two groups. Also they presented significantly more musculoskeletal symptoms at baseline. The presence of anti-dsDNA by the CLIF method in newly diagnosed SLE was associated with certain markers of increased disease activity. Its use could be a useful biomarker for a specific clinical phenotype suggestive of a more severe involvement at the time of the diagnosis. © The Author(s) 2015 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Deviant dynamics of EEG resting state pattern in 22q11.2 deletion syndrome adolescents: A vulnerability marker of schizophrenia?

PubMed

Tomescu, Miralena I; Rihs, Tonia A; Becker, Robert; Britz, Juliane; Custo, Anna; Grouiller, Frédéric; Schneider, Maude; Debbané, Martin; Eliez, Stephan; Michel, Christoph M

2014-08-01

Previous studies have repeatedly found altered temporal characteristics of EEG microstates in schizophrenia. The aim of the present study was to investigate whether adolescents affected by the 22q11.2 deletion syndrome (22q11DS), known to have a 30 fold increased risk to develop schizophrenia, already show deviant EEG microstates. If this is the case, temporal alterations of EEG microstates in 22q11DS individuals could be considered as potential biomarkers for schizophrenia. We used high-density (204 channel) EEG to explore between-group microstate differences in 30 adolescents with 22q11DS and 28 age-matched controls. We found an increased presence of one microstate class (class C) in the 22q11DS adolescents with respect to controls that was associated with positive prodromal symptoms (hallucinations). A previous across-age study showed that the class C microstate was more present during adolescence and a combined EEG-fMRI study associated the class C microstate with the salience resting state network, a network known to be dysfunctional in schizophrenia. Therefore, the increased class C microstates could be indexing the increased risk of 22q11DS individuals to develop schizophrenia if confirmed by our ongoing longitudinal study comparing both the adult 22q11DS individuals with and without schizophrenia, as well as schizophrenic individuals with and without 22q11DS. Copyright © 2014 Elsevier B.V. All rights reserved.

A systematic review and meta-analysis on the prevalence of dietary supplement use by military personnel.

PubMed

Knapik, Joseph J; Steelman, Ryan A; Hoedebecke, Sally S; Farina, Emily K; Austin, Krista G; Lieberman, Harris R

2014-05-02

Although a number of studies have been conducted on the prevalence of dietary supplement (DS) use in military personnel, these investigations have not been previously summarized. This article provides a systematic literature review of this topic. Literature databases, reference lists, and other sources were searched to find studies that quantitatively examined the prevalence of DS use in uniformed military groups. Prevalence data were summarized by gender and military service. Where there were at least two investigations, meta-analysis was performed using a random model and homogeneity of the prevalence values was assessed. The prevalence of any DS use for Army, Navy, Air Force, and Marine Corps men was 55%, 60%, 60%, and 61%, respectively; for women corresponding values were 65%, 71%, 76%, and 71%, respectively. Prevalence of multivitamin and/or multimineral (MVM) use for Army, Navy, Air Force, and Marine Corps men was 32%, 46%, 47%, and 41%, respectively; for women corresponding values were 40%, 55%, 63%, and 53%, respectively. Use prevalence of any individual vitamin or mineral supplement for Army, Navy, Air Force, and Marine Corps men was 18%, 27%, 25%, and 24%, respectively; for women corresponding values were 29%, 36%, 40%, and 33%, respectively. Men in elite military groups (Navy Special Operations, Army Rangers, and Army Special Forces) had a use prevalence of 76% for any DS and 37% for MVM, although individual studies were not homogenous. Among Army men, Army women, and elite military men, use prevalence of Vitamin C was 15% for all three groups; for Vitamin E, use prevalence was 8%, 7%, and 9%, respectively; for sport drinks, use prevalence was 22%, 25% and 39%, respectively. Use prevalence of herbal supplements was generally low compared to vitamins, minerals, and sport drinks, ≤5% in most investigations. Compared to men, military women had a higher use prevalence of any DS and MVM. Army men and women tended to use DSs and MVM less than other service members. Elite military men appeared to use DSs and sport drinks more than other service members.

A systematic review and meta-analysis on the prevalence of dietary supplement use by military personnel

PubMed Central

2014-01-01

Background Although a number of studies have been conducted on the prevalence of dietary supplement (DS) use in military personnel, these investigations have not been previously summarized. This article provides a systematic literature review of this topic. Methods Literature databases, reference lists, and other sources were searched to find studies that quantitatively examined the prevalence of DS use in uniformed military groups. Prevalence data were summarized by gender and military service. Where there were at least two investigations, meta-analysis was performed using a random model and homogeneity of the prevalence values was assessed. Results The prevalence of any DS use for Army, Navy, Air Force, and Marine Corps men was 55%, 60%, 60%, and 61%, respectively; for women corresponding values were 65%, 71%, 76%, and 71%, respectively. Prevalence of multivitamin and/or multimineral (MVM) use for Army, Navy, Air Force, and Marine Corps men was 32%, 46%, 47%, and 41%, respectively; for women corresponding values were 40%, 55%, 63%, and 53%, respectively. Use prevalence of any individual vitamin or mineral supplement for Army, Navy, Air Force, and Marine Corps men was 18%, 27%, 25%, and 24%, respectively; for women corresponding values were 29%, 36%, 40%, and 33%, respectively. Men in elite military groups (Navy Special Operations, Army Rangers, and Army Special Forces) had a use prevalence of 76% for any DS and 37% for MVM, although individual studies were not homogenous. Among Army men, Army women, and elite military men, use prevalence of Vitamin C was 15% for all three groups; for Vitamin E, use prevalence was 8%, 7%, and 9%, respectively; for sport drinks, use prevalence was 22%, 25% and 39%, respectively. Use prevalence of herbal supplements was generally low compared to vitamins, minerals, and sport drinks, ≤5% in most investigations. Conclusions Compared to men, military women had a higher use prevalence of any DS and MVM. Army men and women tended to use DSs and MVM less than other service members. Elite military men appeared to use DSs and sport drinks more than other service members. PMID:24884570

The Effects of Swim Training on Respiratory Aspects of Speech Production in Adolescents with Down Syndrome

ERIC Educational Resources Information Center

Casey, Amanda Faith; Emes, Claudia

2011-01-01

Reduced respiratory muscle strength in individuals with Down syndrome (DS) may affect speech respiratory variables such as maximum phonation duration (MPD), initiation volume, and expired mean airflow. Researchers randomly assigned adolescents with DS (N = 28) to either 12 weeks of swim training (DS-ST) or a control group (DS-NT). Repeated…

Dissociation in patients with dissociative seizures: relationships with trauma and seizure symptoms.

PubMed

Pick, S; Mellers, J D C; Goldstein, L H

2017-05-01

This study aimed to extend the current understanding of dissociative symptoms experienced by patients with dissociative (psychogenic, non-epileptic) seizures (DS), including psychological and somatoform types of symptomatology. An additional aim was to assess possible relationships between dissociation, traumatic experiences, post-traumatic symptoms and seizure manifestations in this group. A total of 40 patients with DS were compared with a healthy control group (n = 43), matched on relevant demographic characteristics. Participants completed several self-report questionnaires, including the Multiscale Dissociation Inventory (MDI), Somatoform Dissociation Questionnaire-20, Traumatic Experiences Checklist and the Post-Traumatic Diagnostic Scale. Measures of seizure symptoms and current emotional distress (Hospital Anxiety and Depression Scale) were also administered. The clinical group reported significantly more psychological and somatoform dissociative symptoms, trauma, perceived impact of trauma, and post-traumatic symptoms than controls. Some dissociative symptoms (i.e. MDI disengagement, MDI depersonalization, MDI derealization, MDI memory disturbance, and somatoform dissociation scores) were elevated even after controlling for emotional distress; MDI depersonalization scores correlated positively with trauma scores while seizure symptoms correlated with MDI depersonalization, derealization and identity dissociation scores. Exploratory analyses indicated that somatoform dissociation specifically mediated the relationship between reported sexual abuse and DS diagnosis, along with depressive symptoms. A range of psychological and somatoform dissociative symptoms, traumatic experiences and post-traumatic symptoms are elevated in patients with DS relative to healthy controls, and seem related to seizure manifestations. Further studies are needed to explore peri-ictal dissociative experiences in more detail.

The differential effects of Autism and Down's syndrome on sexual behavior.

PubMed

Ginevra, Maria Cristina; Nota, Laura; Stokes, Mark A

2016-01-01

Although sexuality plays a major role in the socialization of people, few studies have examined the sexual behaviors of individuals with developmental disabilities. Because of this, we decided to investigate sexuality in adolescents with autism spectrum disorder (ASD) and Down's syndrome (Ds) and to compare them with typically developing adolescents, by surveying their parents. Specifically, it was hypothesized that young people with ASD would display lower levels over five domains: social behavior, privacy, sex education, sexual behavior, and parental concerns, than peers with Ds and typically developing young people. In addition, we sought to verify developmental trends in five domains with age for each group. Overall, 269 parents participated; 94 parents of typically developing adolescents, 93 parents of adolescents diagnosed with Ds, and 82 parents of adolescents diagnosed with ASD. Participants were surveyed with a Sexual Behavior Scale developed by Stokes and Kaur [] that assesses parents' reports of their child's: social behavior, privacy awareness, sex education, sexual behavior and parental concerns about the child's behaviors. It was found that three groups were significantly different on all five domains, adolescents with ASD reportedly displaying lower levels than other groups. Moreover, there was a significant improvement in knowledge of privacy and parental concerns with age for adolescents with ASD and a decline in sex education for adolescents with Ds. The results obtained emphasize the need to train adolescents with developmental disability, and especially for adolescents with ASD through sex education programs. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

Parenting of children with Down syndrome compared to fragile X syndrome.

PubMed

Sterling, Audra; Warren, Steven F

2018-01-01

Children with Down syndrome (DS) and fragile X syndrome (FXS) struggle with language development. Parenting variables, such as responsiveness to children's communication attempts (Maternal Responsivity), and techniques used to support and teach appropriate behavior (Behavior Management) are known to have a significant impact on early child development. We examined these two aspects of parenting style via coded, videotaped parent-child interactions in two groups of participants matched on child age (2-5 years) and child expressive language level: mothers of children with DS and mothers of children with FXS. The mothers differed in their use of gestures and redirecting the child's attention. Overall, mothers in both groups of children appeared to adapt appropriately to their children's developmental needs.

Social cognition dysfunction in adolescents with 22q11.2 deletion syndrome (velo-cardio-facial syndrome): relationship with executive functioning and social competence/functioning.

PubMed

Campbell, L E; McCabe, K L; Melville, J L; Strutt, P A; Schall, U

2015-09-01

Social difficulties are often noted among people with intellectual disabilities. Children and adults with 22q.11.2 deletion syndrome (22q11DS) often have poorer social competence as well as poorer performance on measures of executive and social-cognitive skills compared with typically developing young people. However, the relationship between social functioning and more basic processes of social cognition and executive functioning are not well understood in 22q11DS. The present study examined the relationship between social-cognitive measures of emotion attribution and theory of mind with executive functioning and their contribution to social competence in 22q11DS. The present cross-sectional study measured social cognition and executive performance of 24 adolescents with 22q11DS compared with 27 age-matched typically developing controls. Social cognition was tested using the emotion attribution task (EAT) and a picture sequencing task (PST), which tested mentalising (false-belief), sequencing, cause and effect, and inhibition. Executive functioning was assessed using computerised versions of the Tower of London task and working memory measures of spatial and non-spatial ability. Social competence was also assessed using the parent-reported Strengths and Difficulties Questionnaire. Adolescents with 22q11DS showed impaired false-belief, emotion attribution and executive functioning compared with typically developing control participants. Poorer performance was reported on all story types in the PST, although, patterns of errors and response times across story types were similar in both groups. General sequencing ability was the strongest predictor of false-belief, and performance on the false-belief task predicted emotion attribution accuracy. Intellectual functioning, rather than theory of mind or executive functioning, predicted social competence in 22q11DS. Performance on social-cognitive tasks of theory of mind indicate evidence of a general underlying dysfunction in 22q11DS that includes executive ability to understand cause and effect, to logically reason about social scenarios and also to inhibit responses to salient, but misleading cues. However, general intellectual ability is closely related to actual social competence suggesting that a generalised intellectual deficit coupled with more specific executive impairments may best explain poor social cognition in 22q11DS. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Identification of novel candidate maternal serum protein markers for Down syndrome by integrated proteomic and bioinformatic analysis.

PubMed

Kang, Yuan; Dong, Xinran; Zhou, Qiongjie; Zhang, Ying; Cheng, Yan; Hu, Rong; Su, Cuihong; Jin, Hong; Liu, Xiaohui; Ma, Duan; Tian, Weidong; Li, Xiaotian

2012-03-01

This study aimed to identify candidate protein biomarkers from maternal serum for Down syndrome (DS) by integrated proteomic and bioinformatics analysis. A pregnancy DS group of 18 women and a control group with the same number were prepared, and the maternal serum proteins were analyzed by isobaric tags for relative and absolute quantitation and mass spectrometry, to identify DS differentially expressed maternal serum proteins (DS-DEMSPs). Comprehensive bioinformatics analysis was then employed to analyze DS-DEMSPs both in this paper and seven related publications. Down syndrome differentially expressed maternal serum proteins from different studies are significantly enriched with common Gene Ontology functions, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways, transcription factor binding sites, and Pfam protein domains, However, the DS-DEMSPs are less functionally related to known DS-related genes. These evidences suggest that common molecular mechanisms induced by secondary effects may be present upon DS carrying. A simple scoring scheme revealed Alpha-2-macroglobulin, Apolipoprotein A1, Apolipoprotein E, Complement C1s subcomponent, Complement component 5, Complement component 8, alpha polypeptide, Complement component 8, beta polypeptide and Fibronectin as potential DS biomarkers. The integration of proteomics and bioinformatics studies provides a novel approach to develop new prenatal screening methods for noninvasive yet accurate diagnosis of DS. Copyright © 2012 John Wiley & Sons, Ltd.

Parental characteristics, parenting style, and behavioral problems among chinese children with Down syndrome, their siblings and controls in Taiwan.

PubMed

Gau, Susan Shur-Fen; Chiu, Yen-Nan; Soong, Wei-Tsuen; Lee, Ming-Been

2008-09-01

The literature has documented maternal distress and behavioral problems among children with Down syndrome (DS), however, little is known about paternal adjustment and behavioural problems among the siblings of children with DS. Here, we examined parental psychopathology, parenting style and emotional/behavioral problems among children with DS, their siblings, and controls in Taiwan. We recruited 45 families of children with DS (age, 2-4 years) and 50 families of normally developing children (age, 3-5 years). If there were more than two children in the case family, the sibling whose age was closest to the child with DS was recruited (age, 3-8 years). Both parents completed self-administered measures of their personality characteristics, psychopathology, family functioning, parenting styles, and child behavioral problems, using the Chinese versions of the Maudsley Personality Inventory, Brief Symptom Rating Scale, Family Adaptability and Cohesion Evaluation Scale, Parental Bonding Instrument, and Child Behavioral Checklist, respectively. Children with DS demonstrated significantly more severe symptoms than normal children of a wide range of behavioral problems such as attention problems, delinquency, social problems, somatic complaints, thought problems, and withdrawal compared with the other two groups, and obtained similar parental treatment, except for paternal overprotection. Their parents suffered from more psychopathology and their mothers were less often employed than their counterparts. The siblings of children with DS obtained less overprotection from their mothers than children with DS and less maternal care and control than normal children. There was no difference in emotional/behavioral problems between the siblings and normal controls. Our findings suggest that in addition to the physical, educational and psychological needs of children with DS, the psychological care of their mothers, fathers and siblings also needs to be evaluated. Moreover, parenting counseling should focus not only on children with DS, but their siblings as well.

[Differences in the prevalence of work related disorders among construction workers between the end of 90s and 2006].

PubMed

Riva, M M; Pavesi, G; Bartolozzi, F; Bancone, C; Mosconi, G

2007-01-01

The aim of this work is to analyse the prevalence of occupational diseases in construction industry, comparing the results of the first years of health surveillance (1996-2000) and today's situation. We compare the prevalence of occupational diseases observed in 1348 workers during the period 1996-2000 (mean age 36,4 years, DS 11,8; mean experience in construction industry 16,9 years, DS 12,3) and the one observed in 795 different workers during 2006 (mean age 38,8 years, DS 11,1; mean experience in construction industry 18 years, DS 16,6). The prevalence of occupational diseases is respectively 12.09% and 12.83%. But analysing the single pathology it's possible to observe important differences between the two groups. In the workers observed in 2006 there is a significant reduction in prevalence of hearing loss caused by chronic exposure to noise and in prevalence of vascular disease caused by hand-arm vibrations: respectively from 94,9 to 79,2 cases/1000 workers and from 6,7 to 2.6 cases/1000 workers. Musculoskeletal diseases instead are increased from 11,1 to 37,7 cases/1000 workers, showing more attention to the problem, better diagnostics ability and more recognition by public insurance agency for occupational diseases.

Outcomes of treatment for relapsed acute lymphoblastic leukaemia in children with Down syndrome.

PubMed

Meyr, Franziska; Escherich, Gabriele; Mann, Georg; Klingebiel, Thomas; Kulozik, Andreas; Rossig, Claudia; Schrappe, Martin; Henze, Günter; von Stackelberg, Arend; Hitzler, Johann

2013-07-01

Children with Down syndrome (DS) have a greater risk for developing both acute lymphoblastic leukaemia (ALL) and significant adverse effects of chemotherapy. We investigated their outcome with, and tolerance of, treatment protocols for relapsed ALL optimized in the paediatric population without DS. Probability of survival and causes of treatment failure were determined for 49 children with DS and a matched cohort of 98 children without DS among 2160 children treated for relapsed ALL in clinical trials conducted by the Berlin-Frankfurt-Münster ALL Relapse Study Group between 1983 and 2012. Despite more favourable ALL relapse characteristics, children with DS experienced lower event-free (EFS) and overall survival (OS) than the control group without DS (EFS 17 ± 08% vs. non-DS 41 ± 06%, P = 0·006; OS 17 ± 09% vs. non-DS 51 ± 06%, P < 0·001). Children with DS developed more frequently fatal complications of treatment (34 ± 07% vs. non-DS 10 ± 04%, P < 0·001). During the last decade, EFS and OS were no longer significantly different in children with and without DS (EFS 31 ± 09% vs. 36 ± 09%, P = 0·399; OS 31 ± 12% vs. 53 ± 09%, P = 0·151). DS proved an independent prognostic factor of outcome after ALL relapse. Induction deaths and treatment-related mortality but not subsequent relapse were the main barrier to successful outcomes of relapse therapy in children with DS. © 2013 John Wiley & Sons Ltd.

Age-Related Changes of Adaptive and Neuropsychological Features in Persons with Down Syndrome

PubMed Central

Ghezzo, Alessandro; Salvioli, Stefano; Solimando, Maria Caterina; Palmieri, Alice; Chiostergi, Chiara; Scurti, Maria; Lomartire, Laura; Bedetti, Federica; Cocchi, Guido; Follo, Daniela; Pipitone, Emanuela; Rovatti, Paolo; Zamberletti, Jessica; Gomiero, Tiziano; Castellani, Gastone; Franceschi, Claudio

2014-01-01

Down Syndrome (DS) is characterised by premature aging and an accelerated decline of cognitive functions in the vast majority of cases. As the life expectancy of DS persons is rapidly increasing, this decline is becoming a dramatic health problem. The aim of this study was to thoroughly evaluate a group of 67 non-demented persons with DS of different ages (11 to 66 years), from a neuropsychological, neuropsychiatric and psychomotor point of view in order to evaluate in a cross-sectional study the age-related adaptive and neuropsychological features, and to possibly identify early signs predictive of cognitive decline. The main finding of this study is that both neuropsychological functions and adaptive skills are lower in adult DS persons over 40 years old, compared to younger ones. In particular, language and short memory skills, frontal lobe functions, visuo-spatial abilities and adaptive behaviour appear to be the more affected domains. A growing deficit in verbal comprehension, along with social isolation, loss of interest and greater fatigue in daily tasks, are the main features found in older, non demented DS persons evaluated in our study. It is proposed that these signs can be alarm bells for incipient dementia, and that neuro-cognitive rehabilitation and psycho-pharmacological interventions must start as soon as the fourth decade (or even earlier) in DS persons, i.e. at an age where interventions can have the greatest efficacy. PMID:25419980

Timely event-related synchronization fading and phase de-locking and their defects in migraine.

PubMed

Yum, Myung-Kul; Moon, Jin-Hwa; Kang, Joong Koo; Kwon, Oh-Young; Park, Ki-Jong; Shon, Young-Min; Lee, Il Keun; Jung, Ki-Young

2014-07-01

To investigate the characteristics of event-related synchronization (ERS) fading and phase de-locking of alpha waves during passive auditory stimulation (PAS) in the migraine patients. The subjects were 16 adult women with migraine and 16 normal controls. Electroencephalographic (EEG) data obtained during PAS with standard (SS) and deviant stimuli (DS) were used. Alpha ERS fading, the phase locking index (PLI) and de-locking index (DLI) were evaluated from the 10 Hz complex Morlet wavelet components at 100 ms (t100) and 300 ms (t300) after PAS. At t100, significant ERS was found with SS and DS in the migraineurs and controls (P=0.000). At t300 in the controls, ERS faded to zero for DS while in the migraineurs there was no fading for DS. In both groups the PLI for SS and DS was significantly reduced, i.e. de-locked, at t300 compared to t100 (P=0.000). In the migraineurs, the DLI for DS was significantly lower than in the controls (P=0.003). The alpha ERS fading and phase de-locking are defective in migraineurs during passive auditory cognitive processing. The defects in timely alpha ERS fading and in de-locking may play a role in the different attention processing in migraine patients. Copyright © 2013 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

Movement Skills of Younger versus Older Adults with and without Down Syndrome

ERIC Educational Resources Information Center

Carmeli, Eli; Ariav, Claudette; Bar-Yossef, Tamar; Levy, Ran; Imam, Bita

2012-01-01

Adults with Down syndrome (DS) are often physically inactive, which may accelerate the onset of disease and aging symptoms. Eight older persons with DS (aged 54-61), and 10 younger persons with DS (aged 26-35) living in a residential care center were examined. Eighteen age- and gender-matched individuals without DS served as control groups.…

Adaptive servo-ventilation and deadspace: effects on central sleep apnoea.

PubMed

Szollosi, I; O'Driscoll, D M; Dayer, M J; Coats, A J; Morrell, M J; Simonds, A K

2006-06-01

Central Sleep Apnoea (CSA) occurs commonly in heart failure. Adaptive servo-ventilation (ASV) and deadspace (DS) have been shown in research settings to reverse CSA. The likely mechanism for this is the increase of PaCO(2) above the apnoeic threshold. However the role of increasing FiCO(2) on arousability remains unclear. To compare the effects of ASV and DS on sleep and breathing, in particular effects on Arousal Index (ArI), ten male patients with heart failure and CSA were studied during three nights with polysomnography plus measurements of PetCO(2). The order of the interventions control (C), ASV and DS was randomized. ASV and DS caused similar reductions in apnoea-hypopnoea index [(C) 30.0 +/- 6.6, (ASV) 14.0 +/- 3.8, (DS) 15.9 +/- 4.7 e h(-1); both P < 0.05]. However, DS was associated with decreased total sleep time compared with C (P < 0.02) and increased spontaneous ArI compared to C and ASV (both P < 0.01). Only DS was associated with increased DeltaPetCO(2) from resting wakefulness to eupnic sleep [(C) 2.1 +/- 0.9, (ASV) 1.3 +/- 1.0, (DS) 5.6 +/- 0.5 mmHg; P = 0.01]. ASV and DS both stabilized ventilation however DS application also increased sleep fragmentation with negative impacts on sleep architecture. We speculate that this effect is likely to be mediated by increased PetCO(2) and respiratory effort associated with DS application.

Olfaction in People with Down Syndrome: A Comprehensive Assessment across Four Decades of Age.

PubMed

Cecchini, Maria Paola; Viviani, Dario; Sandri, Marco; Hähner, Antje; Hummel, Thomas; Zancanaro, Carlo

2016-01-01

Down syndrome (DS) shows neuropathology similar to Alzheimer disease, which presents olfactory impairment. Previous work showed olfactory impairment in DS, but a comprehensive evaluation of olfactory function in DS is lacking. We investigated a large number (n = 56; M = 31, F = 25) DS participants (age range18-57y) using the "Sniffin' Sticks" Extended test. This comprises three subtests (threshold, discrimination, and identification) yielding a global score (TDI) defining normosmia, hyposmia, and functional anosmia. To the best of our knowledge, this is the second largest group of DS people investigated for olfactory function ever. Age- and sex matched euploid individuals (n = 53) were the control. In DS, TDI was lower (16.7±5.13 vs. 35.4±3.74; P<0.001), with DS people performing worse in any subtests (P<0.001 for all); 27 DS participants showed functional anosmia (i.e., TDI<16). In DS, age was weakly and negatively correlated with TDI (r = -0.28, P = 0.036) and identification (r = -0.34, P = 0.012). When participants were stratified in young adults (18-29y) and older adults (30-61y), a significant effect of age was found for identification in both DS (young adults, 8.3±2.58; older adults, 6.9±2.99; P = 0.031) and control (young-adult, 14.3±1.18, older adult, 13.0±1.54; P = 0.016). Olfactory function is overall severely impaired in DS people and may be globally impaired at relatively young age, despite of reportedly normal smell. However, specificity of this olfactory profile to DS should be considered with some caution because cognition was not evaluated in all DS participants and comparison with a control group of non-DS individuals having cognitive disabilities was lacking. Further study is required to longitudinally assess olfactory dysfunction in DS and to correlate it with brain pathology.

Olfaction in People with Down Syndrome: A Comprehensive Assessment across Four Decades of Age

PubMed Central

Cecchini, Maria Paola; Viviani, Dario; Sandri, Marco; Hähner, Antje; Hummel, Thomas; Zancanaro, Carlo

2016-01-01

Background Down syndrome (DS) shows neuropathology similar to Alzheimer disease, which presents olfactory impairment. Previous work showed olfactory impairment in DS, but a comprehensive evaluation of olfactory function in DS is lacking. Methods We investigated a large number (n = 56; M = 31, F = 25) DS participants (age range18-57y) using the “Sniffin’ Sticks” Extended test. This comprises three subtests (threshold, discrimination, and identification) yielding a global score (TDI) defining normosmia, hyposmia, and functional anosmia. To the best of our knowledge, this is the second largest group of DS people investigated for olfactory function ever. Age- and sex matched euploid individuals (n = 53) were the control. Results In DS, TDI was lower (16.7±5.13 vs. 35.4±3.74; P<0.001), with DS people performing worse in any subtests (P<0.001 for all); 27 DS participants showed functional anosmia (i.e., TDI<16). In DS, age was weakly and negatively correlated with TDI (r = -0.28, P = 0.036) and identification (r = -0.34, P = 0.012). When participants were stratified in young adults (18-29y) and older adults (30-61y), a significant effect of age was found for identification in both DS (young adults, 8.3±2.58; older adults, 6.9±2.99; P = 0.031) and control (young-adult, 14.3±1.18, older adult, 13.0±1.54; P = 0.016). Conclusion Olfactory function is overall severely impaired in DS people and may be globally impaired at relatively young age, despite of reportedly normal smell. However, specificity of this olfactory profile to DS should be considered with some caution because cognition was not evaluated in all DS participants and comparison with a control group of non-DS individuals having cognitive disabilities was lacking. Further study is required to longitudinally assess olfactory dysfunction in DS and to correlate it with brain pathology. PMID:26730728

Postdoctorals vs. Non-Postdoctorals: Career Performance Differentials Within Academic Medicine.

ERIC Educational Resources Information Center

Fribush, Stuart L.; Larson, Thomas A.

The research methodology developed in this paper was intended to shed some light on the question of career performance differentials within academic medicine between persons who have undergone postdoctoral training and those who have not. Compared were two groups of medical school faculty members (including M. D.'s and Ph.D.'s). One group included…

Presence of the dissociative subtype of PTSD does not moderate the outcome of intensive trauma-focused treatment for PTSD

PubMed Central

2018-01-01

ABSTRACT Background: There is a widely-held belief in the trauma field that the presence of dissociative symptoms is associated with poor treatment response. However, previous research on the effect of dissociation in treatment outcomes pertained to specific patients and trauma populations. Objective: To test the hypothesis that the presence of the dissociative subtype of PTSD (DS) would have a detrimental effect on the outcome of an intensive trauma-focused treatment programme. Methods: PTSD symptom scores (Clinician Administered PTSD Scale [CAPS] and PTSD Symptom Scale Self-Report [PSS-SR]) were analysed using the data of 168 consecutive patients (70.6% female) who had been exposed to a wide variety of multiple traumas, including childhood sexual abuse, and of whom 98.2% were diagnosed with severe PTSD (CAPS > 65). Most of them suffered from multiple comorbidities and 38 (22.6%) met the criteria for DS. They took part in an intensive trauma-focused treatment programme for PTSD. Pre- and post-treatment differences were compared between patients with and without DS. Results: Large effect sizes were achieved for PTSD symptom reduction on CAPS and the PSS-SR, both for patients with DS and those without. Although patients with DS showed a significantly greater PTSD symptom severity at the beginning, and throughout, treatment, both groups showed equal reductions in PTSD symptoms. Of those who met the criteria for DS, 26 (68.4%) no longer fulfilled the criteria for this classification after treatment. Conclusion: The results provide no support for the notion that the presence of DS negatively impacts trauma-focused treatment outcomes. Accordingly, PTSD patients with DS should not be denied effective trauma-focused treatments. PMID:29805779

Presence of the dissociative subtype of PTSD does not moderate the outcome of intensive trauma-focused treatment for PTSD.

PubMed

Zoet, Harmen A; Wagenmans, Anouk; van Minnen, Agnes; de Jongh, Ad

2018-01-01

Background : There is a widely-held belief in the trauma field that the presence of dissociative symptoms is associated with poor treatment response. However, previous research on the effect of dissociation in treatment outcomes pertained to specific patients and trauma populations. Objective : To test the hypothesis that the presence of the dissociative subtype of PTSD (DS) would have a detrimental effect on the outcome of an intensive trauma-focused treatment programme. Methods : PTSD symptom scores (Clinician Administered PTSD Scale [CAPS] and PTSD Symptom Scale Self-Report [PSS-SR]) were analysed using the data of 168 consecutive patients (70.6% female) who had been exposed to a wide variety of multiple traumas, including childhood sexual abuse, and of whom 98.2% were diagnosed with severe PTSD (CAPS > 65). Most of them suffered from multiple comorbidities and 38 (22.6%) met the criteria for DS. They took part in an intensive trauma-focused treatment programme for PTSD. Pre- and post-treatment differences were compared between patients with and without DS. Results : Large effect sizes were achieved for PTSD symptom reduction on CAPS and the PSS-SR, both for patients with DS and those without. Although patients with DS showed a significantly greater PTSD symptom severity at the beginning, and throughout, treatment, both groups showed equal reductions in PTSD symptoms. Of those who met the criteria for DS, 26 (68.4%) no longer fulfilled the criteria for this classification after treatment. Conclusion : The results provide no support for the notion that the presence of DS negatively impacts trauma-focused treatment outcomes. Accordingly, PTSD patients with DS should not be denied effective trauma-focused treatments.

Autoantibodies in pediatric systemic lupus erythematosus: ethnic grouping, cluster analysis, and clinical correlations.

PubMed

Jurencák, Roman; Fritzler, Marvin; Tyrrell, Pascal; Hiraki, Linda; Benseler, Susanne; Silverman, Earl

2009-02-01

(1) To evaluate the spectrum of serum autoantibodies in pediatric-onset systemic lupus erythematosus (pSLE) with a focus on ethnic differences; (2) using cluster analysis, to identify patients with similar autoantibody patterns and to determine their clinical associations. A single-center cohort study of all patients with newly diagnosed pSLE seen over an 8-year period was performed. Ethnicity, clinical, and serological data were prospectively collected from 156/169 patients (92%). The frequencies of 10 selected autoantibodies among ethnic groups were compared. Cluster analysis identified groups of patients with similar autoantibody profiles. Associations of these groups with clinical and laboratory features of pSLE were examined. Among our 5 ethnic groups, there were differences only in the prevalence of anti-U1RNP and anti-Sm antibodies, which occurred more frequently in non-Caucasian patients (p < 0.0001, p < 0.01, respectively). Cluster analysis revealed 3 autoantibody clusters. Cluster 1 consisted of anti-dsDNA antibodies. Cluster 2 consisted of anti-dsDNA, antichromatin, antiribosomal P, anti-U1RNP, anti-Sm, anti-Ro and anti-La autoantibody. Cluster 3 consisted of anti-dsDNA, anti-RNP, and anti-Sm autoantibody. The highest proportion of Caucasians was in cluster 1 (p < 0.05), which was characterized by a mild disease with infrequent major organ involvement compared to cluster 2, which had the highest frequency of nephritis, renal failure, serositis, and hemolytic anemia, or cluster 3, which was characterized by frequent neuropsychiatric disease and nephritis. We observed ethnic differences in autoantibody profiles in pSLE. Autoantibodies tended to cluster together and these clusters were associated with different clinical courses.

Prevalence of dental caries and influencing factors, time trends over a 30-year period in an adult population. Epidemiological studies between 1983 and 2013 in the county of Dalarna, Sweden.

PubMed

Edman, Kristina; Öhrn, Kerstin; Nordström, Birgitta; Holmlund, Anders

2016-07-01

The aim of this study was to investigate the prevalence of dental caries in an adult population using four different cross-sectional studies over a 30-year period and to assess its possible associations with socio-economic and socio-behavioural factors. Four cross-sectional epidemiological studies were performed in the county of Dalarna, Sweden, in 1983, 2003, 2008 and 2013. Random samples of 1012-2244 individuals, aged 20-85 years, who answered a questionnaire about socio-economic and socio-behavioural factors, were radiographically and clinically examined. The proportion of individuals with at least one decayed surface (DS) was 58% in 1983 and significantly lower, 34% in 2008 (p < 0.05) and 33% in 2013; the mean number of DS was 2.0 in 1983 and 1.1 in 2013 in the age group 35-75 (p < 0.05). In the age group 85, the mean number of DS was 1.2 in 2008 and 2.4 in 2013. Adjusted for age and number of teeth, irregular dental visits, limited financial resources for dental care, smoking, education below university, male gender, daily medication and single living were positively and statistically associated with manifest caries. The declining trend in the prevalence of manifest caries seems to be broken. In the oldest age group mean number of DS was higher in 2013 compared with 2008, indicating a possible beginning of an increase. This needs special attention as this group increases in the population, retaining natural teeth high up in age. Manifest caries was found to be associated with socio-economic and socio-behavioural factors.

The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale: Comprehensive Assessment of Psychopathology in Down Syndrome.

PubMed

Dekker, Alain D; Sacco, Silvia; Carfi, Angelo; Benejam, Bessy; Vermeiren, Yannick; Beugelsdijk, Gonny; Schippers, Mieke; Hassefras, Lyanne; Eleveld, José; Grefelman, Sharina; Fopma, Roelie; Bomer-Veenboer, Monique; Boti, Mariángeles; Oosterling, G Danielle E; Scholten, Esther; Tollenaere, Marleen; Checkley, Laura; Strydom, André; Van Goethem, Gert; Onder, Graziano; Blesa, Rafael; Zu Eulenburg, Christine; Coppus, Antonia M W; Rebillat, Anne-Sophie; Fortea, Juan; De Deyn, Peter P

2018-01-01

People with Down syndrome (DS) are prone to develop Alzheimer's disease (AD). Behavioral and psychological symptoms of dementia (BPSD) are core features, but have not been comprehensively evaluated in DS. In a European multidisciplinary study, the novel Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) scale was developed to identify frequency and severity of behavioral changes taking account of life-long characteristic behavior. 83 behavioral items in 12 clinically defined sections were evaluated. The central aim was to identify items that change in relation to the dementia status, and thus may differentiate between diagnostic groups. Structured interviews were conducted with informants of persons with DS without dementia (DS, n = 149), with questionable dementia (DS+Q, n = 65), and with diagnosed dementia (DS+AD, n = 67). First exploratory data suggest promising interrater, test-retest, and internal consistency reliability measures. Concerning item relevance, group comparisons revealed pronounced increases in frequency and severity in items of anxiety, sleep disturbances, agitation & stereotypical behavior, aggression, apathy, depressive symptoms, and eating/drinking behavior. The proportion of individuals presenting an increase was highest in DS+AD, intermediate in DS+Q, and lowest in DS. Interestingly, among DS+Q individuals, a substantial proportion already presented increased anxiety, sleep disturbances, apathy, and depressive symptoms, suggesting that these changes occur early in the course of AD. Future efforts should optimize the scale based on current results and clinical experiences, and further study applicability, reliability, and validity. Future application of the scale in daily care may aid caregivers to understand changes, and contribute to timely interventions and adaptation of caregiving.

The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale: Comprehensive Assessment of Psychopathology in Down Syndrome

PubMed Central

Dekker, Alain D.; Sacco, Silvia; Carfi, Angelo; Benejam, Bessy; Vermeiren, Yannick; Beugelsdijk, Gonny; Schippers, Mieke; Hassefras, Lyanne; Eleveld, José; Grefelman, Sharina; Fopma, Roelie; Bomer-Veenboer, Monique; Boti, Mariángeles; Oosterling, G. Danielle E.; Scholten, Esther; Tollenaere, Marleen; Checkley, Laura; Strydom, André; Van Goethem, Gert; Onder, Graziano; Blesa, Rafael; zu Eulenburg, Christine; Coppus, Antonia M.W.; Rebillat, Anne-Sophie; Fortea, Juan; De Deyn, Peter P.

2018-01-01

People with Down syndrome (DS) are prone to develop Alzheimer’s disease (AD). Behavioral and psychological symptoms of dementia (BPSD) are core features, but have not been comprehensively evaluated in DS. In a European multidisciplinary study, the novel Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) scale was developed to identify frequency and severity of behavioral changes taking account of life-long characteristic behavior. 83 behavioral items in 12 clinically defined sections were evaluated. The central aim was to identify items that change in relation to the dementia status, and thus may differentiate between diagnostic groups. Structured interviews were conducted with informants of persons with DS without dementia (DS, n = 149), with questionable dementia (DS+Q, n = 65), and with diagnosed dementia (DS+AD, n = 67). First exploratory data suggest promising interrater, test-retest, and internal consistency reliability measures. Concerning item relevance, group comparisons revealed pronounced increases in frequency and severity in items of anxiety, sleep disturbances, agitation & stereotypical behavior, aggression, apathy, depressive symptoms, and eating/drinking behavior. The proportion of individuals presenting an increase was highest in DS+AD, intermediate in DS+Q, and lowest in DS. Interestingly, among DS+Q individuals, a substantial proportion already presented increased anxiety, sleep disturbances, apathy, and depressive symptoms, suggesting that these changes occur early in the course of AD. Future efforts should optimize the scale based on current results and clinical experiences, and further study applicability, reliability, and validity. Future application of the scale in daily care may aid caregivers to understand changes, and contribute to timely interventions and adaptation of caregiving. PMID:29689719

Comparison of optics and performance of a distal sensor high definition cystoscope, a distal sensor standard definition cystoscope, and a fiberoptic cystoscope.

PubMed

Lusch, Achim; Liss, Michael A; Greene, Peter; Abdelshehid, Corollos; Menhadji, Ashleigh; Bucur, Philip; Alipanah, Reza; McDougall, Elspeth; Landman, Jaime

2013-12-01

To evaluate performance characteristics and optics of a new generation high-definition distal sensor (HD-DS) flexible cystoscope, a standard-definition distal sensor (SD-DS) cystoscope, and a standard fiberoptic (FO) cystoscope. Three new cystoscopes (HD-DS, SD-DS, and FO) were compared for active deflection, irrigation flow, and optical characteristics. Each cystoscope was evaluated with an empty working channel and with various accessories. Optical characteristics (resolution, grayscale imaging, color representation, depth of field, and image brightness) were measured using United States Air Force (USAF)/Edmund Optics test targets and illumination meter. We digitally recorded a porcine cystoscopy in both clear and blood fields, with subsequent video analysis by 8 surgeons via questionnaire. The HD-DS had a higher resolution than the SD-DS and the FO at both 20 mm (6.35 vs 4.00 vs 2.24 line pairs/mm) and 10 mm (14.3 vs 7.13 vs 4.00 line pairs/mm) evaluations, respectively (P <.001 and P <.001). Color representation and depth of field (P = .001 and P <.001) were better in the HD-DS. When compared to the FO, the HD-DS and SD-DS demonstrated superior deflection up and irrigant flow with and without accessory present in the working channel, whereas image brightness was superior in the FO (P <.001, P = .001, and P <.001, respectively). Observers deemed the HD-DS cystoscope superior in visualization in clear and bloody fields, as well as for illumination. The new HD-DS provided significantly improved visualization in a clear and a bloody field, resolution, color representation, and depth of field compared to SD-DS and FO. Clinical correlation of these findings is pending. Copyright © 2013 Elsevier Inc. All rights reserved.

Siblings of individuals with autism or Down syndrome: effects on adult lives.

PubMed

Orsmond, G I; Seltzer, M M

2007-09-01

In this study, we examine instrumental and affective involvement in the sibling relationship for adults who have a brother or sister with an autism spectrum disorder (ASD) or Down syndrome (DS). We ask three research questions: (1) How do adult siblings of individuals with ASD differ from siblings of individuals with DS in their assessment of the quality of the sibling relationship and their experience of growing up with a brother or sister with a disability? (2) Are there gender effects on the sibling relationship and sibling experience in these two groups? (3) Which factors are predictive of variation in the sibling relationship for siblings of adults with ASD or DS? Data from 154 siblings who participated in two linked longitudinal studies were used. Seventy-seven siblings with a brother or sister with ASD were matched by age and gender to 77 siblings with a brother or sister with DS. The siblings in each group were between 21 and 56 years of age and over half were sisters. Siblings completed questionnaires on instrumental and affective involvement with their brother or sister with ASD or DS, the impact of growing up with a brother or sister with a disability on their lives, and their coping skills and feelings of pessimism. Compared with the siblings of adults with DS, siblings of adults with ASD had less contact with their brother or sister, reported lower levels of positive affect in the relationship, felt more pessimistic about their brother or sister's future, and were more likely to report that their relationships with their parents had been affected. For siblings of adults with ASD, a closer sibling relationship was observed when the sibling had lower educational levels, lived closer to the brother or sister with ASD, used more problem-focused coping strategies, and when his or her brother or sister with ASD had higher levels of functional independence. In contrast, for siblings of adults with DS, a closer sibling relationship was observed when the sibling did not have children, had lower levels of education, lived closer to the brother or sister with DS, when he or she used more problem-focused coping, was less pessimistic about the brother or sister's future, and when his or her life had been impacted to a greater extent by growing up with a brother or sister with DS. We discuss the implications of these findings for future caregiving roles for siblings. Siblings of individuals with ASD may face difficulty when their parents are no longer able to be the primary caregivers for their brother or sister with ASD, as they tend to have less emotional closeness and are more pessimistic about their brother or sister's future than siblings of individuals with DS. Moreover, in both groups, a closer sibling relationship was observed when the sibling used more problem-focused coping strategies, which may have implications for intervention.

Visuo-spatial knowledge acquisition in individuals with Down syndrome: The role of descriptions and sketch maps.

PubMed

Meneghetti, Chiara; Lanfranchi, Silvia; Carretti, Barbara; Toffalini, Enrico

2017-04-01

Few studies on individuals with Down syndrome (DS) have explored how they learn space. The present study examines space learning from verbal descriptions in individuals with DS, and explores the role of external cues (such as a sketch map). Twenty-eight individuals with DS and 28 matched typically-developing (TD) children listened to route or survey descriptions with or without seeing a corresponding sketch map (Description+Sketch Map [D+SM] and Description alone [D], respectively). After hearing each description, they performed tasks that involved recognizing, arranging sequentially, and locating landmarks. The results showed that individuals with DS performed less well in recognizing landmarks and arranging them sequentially. The D+SM condition produced general benefits in both groups' accuracy, though the improvement in locating landmarks was greater in the TD than in the DS group. In both groups, the D+SM condition prompted a better performance than the D condition when participants arranged landmarks sequentially after hearing a description from a route perspective, but not from a survey perspective. Overall, our results show that individuals with DS benefited when a spatial description was associated with a corresponding sketch map, albeit to a lesser degree than TD children. The findings are discussed in the light of the literature on DS and on spatial cognition in the TD domain. Copyright © 2017 Elsevier Ltd. All rights reserved.

Negative emotion evoked by viewing snakes has a motivating effect on cognitive processing in human children with or without intellectual disability.

PubMed

Masataka, Nobuo

2017-06-01

It is well known that prioritization of the processing of threatening stimuli generally induces deleterious effects on task performance. However, a study recently reported that emotion (possibly fear) evoked by viewing images of snakes exerts a facilitating effect upon making judgments of the images' color in neurotypical adults and schoolchildren. Here, the author has attempted to confirm the relevance of this notion in children with and without intellectual disability. The author here compared the reaction time required to name the colors of snake and flower images between children with Down syndrome (DS) and mental age matched, typically-developing (TD) children. Snake images were responded to faster than flower images in both the groups, while the children with DS tended to respond more slowly overall. As in TD children, negative emotion can have a motivating effect on cognitive processing in children with DS. Some implications of the findings are pointed out with respect to the lower-level task persistence as a characteristic motivational orientation in children with DS.

Molecular diagnosis of group B coltiviruses infections.

PubMed

Billoir, F; Attoui, H; Simon, S; Gallian, P; de Micco, P; de Lamballerie, X

1999-08-01

The group-B of genus Coltivirus encompasses isolates from humans, ticks or mosquitoes collected in Indonesia and China. Subgroup-B1 includes the strain JKT/dsR-7075 and subgroup-B2 strains JKT/dsR-6423, JKT/dsR-6969, JKT/dsR-7043 and the Banna virus. Data are described for the PCR-based diagnosis of infection by group B coltiviruses. Sets of primers were designed from the sequences of the 7th, 9th and 12th viral segments and RT PCR assays were developed. Consensus primers permitted the detection of all known isolates of subgroup 1 or 2. Viral strains could be characterised further using primers specific for type B2a or B2b, or based on the length of the amplification products. All primers gave negative results when using RNAs from Orbiviruses or Group-A coltiviruses. These primers permitted the detection of Group-B coltiviruses-RNA in infected mouse blood at the acute stage of the disease. Accordingly, they could be used for the diagnosis of infection in humans.

Influence of pharmacological education on perceptions, attitudes and use of dietary supplements by medical students.

PubMed

Stanojević-Ristić, Z; Stević, S; Rašić, J; Valjarević, D; Dejanović, M; Valjarević, A

2017-12-11

The ready availability and use of dietary supplements (DS) by the public means that healthcare professionals require education in this area. In the Republic of Serbia, education related to use of DS is included in undergraduate medical training and it is therefore important to assess the effectiveness of this education. The aim of our survey was to investigate the influence of pharmacological education on the use, attitudes and perceptions of risks associated with DS among medical students. Medical students at the University of Kosovska Mitrovica participated in the survey. Three hundred eighty questionnaires were distributed, yielding a response rate of 89% (n = 334). Data were categorized by year of study, completion of a one-year course in pharmacology and having passed the final exam. The results were compared between 192 (58%) medical students educated in pharmacology (MSEP) and 142 (42%) medical students not educated in pharmacology (MSNEP). The questionnaire was divided into 4 parts: socio-demographic and lifestyle/behavioral characteristics, use of DS, attitudes about efficacy, safety and perception of risk due to DS use. Chi-square test, Student's t-test, and Mann-Whitney U test were used for statistical analysis. About 53% of respondents used some form of DS. Attitudes regarding the safety of DS consumption showed a difference between the groups. MSEP were more likely to agree that DS have the potential to cause adverse reactions (Likert scale mean 4.1 vs. 3.5, p < 0.001) as well as interactions with conventional drugs (Likert scale mean 4.2 vs. 3.2, p < 0.001) than MSNEP. Finally, MSEP ranked St. John's wort and ginkgo as the most dangerous DS, but creatine and vitamin C were both ranked as relatively safe. Conversely, MSNEP considered ginkgo and vitamin C the most harmful DS, claiming that omega-3 fatty acids and vitamin D had the least hazardous side effects. Our results showed that pharmacological education gives young medical students a better understanding of the risks of DS-drug interactions and potential adverse effects. However, their overall attitudes and perception of risk indicate the need for further education.

Quality of Life after Surgery for Stanford Type A Aortic Dissection: Influences of Different Operative Strategies.

PubMed

Ghazy, Tamer; Eraqi, Mohamed; Mahlmann, Adrian; Hegelmann, Helena; Matschke, Klaus; Kappert, Utz; Weiss, Norbert

2017-06-22

Outcome of surgery for acute Stanford type A aortic dissection extends beyond mortality and morbidity. More than one operative strategy is available but little is known regarding their influence on quality of life. This study analyzes the influence of defensive and aggressive operative strategies on the patients' midterm quality of life (QoL). From July 2007 to July 2010, 95 patients underwent surgery for acute Stanford type A aortic dissection in our institution. Patients who survived the procedure, gave consent to inclusion in the institution prospective registry, completed at least 2-years of follow-up protocol, and answered two quality of life questionnaires (SF-36 and WHO-QOL-BREF) were included in the study. Patients were divided into two groups according to operative strategy: defensive (DS) with replacement of the ascending aorta only, and aggressive (AS) with replacement of the ascending aorta, aortic arch with/out a frozen elephant trunk procedure. The preoperative, operative, postoperative and the midterm QoL were analyzed and compared. 39 patients were included in the study. The DS group had a shorter operative time (184 ± 54 versus 276 ± 110 minutes respectively, P = .001). The AS group had higher incidence of dialysis (31% versus 4% respectively, P = .038). The midterm QoL analysis showed a collective lower value than the normal population. In the SF-36, DS performed better in all categories but with no statistical significance. In the WHO-QOL-BREF, DS performed significantly better in the global life quality and psychological health categories (P = .038 and .049 respectively). In Stanford type A aortic dissection, adopting an aggressive surgical strategy does not improve the quality of life in midterm follow-up compared to a defensive strategy. Unless the clinical setting dictates an aggressive management strategy, a defensive strategy can be safely adopted.

Urinary Biomarkers and Obstructive Sleep Apnea in Patients with Down Syndrome

PubMed Central

Elsharkawi, Ibrahim; Gozal, David; Macklin, Eric A.; Voelz, Lauren; Weintraub, Gil; Skotko, Brian G.

2017-01-01

Study Objectives The study aim was to compare urinary biomarkers in individuals with Down syndrome (DS) with and without obstructive sleep apnea (OSA) to those of age- and sex-matched neurotypically developing healthy controls (HC). We further investigated whether we could predict OSA in individuals with DS using these biomarkers. Methods Urine samples were collected from 58 individuals with DS the night before or the morning after their scheduled overnight polysomnogram or both, of whom 47 could be age- and sex-matched to a sample of 43 HC. Concentrations of 12 neurotransmitters were determined by enzyme-linked immunosorbent assay. Log-transformed creatinine-corrected assay levels were normalized. Normalized z-scores were compared between individuals with DS vs. HC, between individuals with DS with vs. without OSA, and to derive composite models to predict OSA. Results Most night-sampled urinary biomarkers were elevated among individuals with DS relative to matched HC. No urinary biomarker levels differed between individuals with DS with vs. without OSA. A combination of four urinary biomarkers predicted AHI > 1 with a positive predictive value of 90% and a negative predictive value of 68%. Conclusions Having DS, even in the absence of concurrent OSA, is associated with a different urinary biomarker profile when compared to HC. Therefore, while urinary biomarkers may be predictive of OSA in the general pediatric population, a different approach is needed in interpreting urinary biomarker assays in individuals with DS. Certain biomarkers also seem promising to be predictive of OSA in individuals with DS. PMID:28522103

Disrupted fornix integrity in children with chromosome 22q11.2 deletion syndrome

PubMed Central

Deng, Yi; Goodrich-Hunsaker, Naomi J.; Cabaral, Margarita; Amaral, David G.; Buonocore, Michael H.; Harvey, Danielle; Kalish, Kristopher; Carmichael, Owen; Schumann, Cynthia M.; Lee, Aaron; Dougherty, Robert F.; Perry, Lee M.; Wandell, Brian A.; Simon, Tony J.

2015-01-01

The fornix is the primary subcortical output fiber system of the hippocampal formation. In children with 22q11.2 deletion syndrome (22q11.2DS), hippocampal volume reduction has been commonly reported, but few studies as yet have evaluated the integrity of the fornix. Therefore, we investigated the fornix of 45 school-aged children with 22q11.2DS and 38 matched typically developing (TD) children. Probabilistic diffusion tensor imaging (DTI) tractography was used to reconstruct the body of fornix in each child's brain native space. Compared with children, significantly lower fractional anisotropy (FA) and higher radial diffusivity (RD) was observed bilaterally in the body of the fornix in children with 22q11.2DS. Irregularities were especially prominent in the posterior aspect of the fornix where it emerges from the hippocampus. Smaller volumes of hippocampal formations were also found in the 22q11.2DS group. The reduced hippocampal volumes were correlated with fornix lower FA and higher RD in the right hemisphere. Our findings provide neuroanatomical evidence of disrupted hippocampal connectivity in children with 22q11.2DS, which may help to further understand the biological basis for spatial impairments, affective regulation, and other factors related to the ultra-high risk for schizophrenia in this population. PMID:25748884

Measurement of the Decay Constant fDs+ Using Ds+→l+ν

NASA Astrophysics Data System (ADS)

Artuso, M.; Blusk, S.; Butt, J.; Khalil, S.; Li, J.; Menaa, N.; Mountain, R.; Nisar, S.; Randrianarivony, K.; Sia, R.; Skwarnicki, T.; Stone, S.; Wang, J. C.; Bonvicini, G.; Cinabro, D.; Dubrovin, M.; Lincoln, A.; Asner, D. M.; Edwards, K. W.; Naik, P.; Briere, R. A.; Ferguson, T.; Tatishvili, G.; Vogel, H.; Watkins, M. E.; Rosner, J. L.; Adam, N. E.; Alexander, J. P.; Cassel, D. G.; Duboscq, J. E.; Ehrlich, R.; Fields, L.; Gibbons, L.; Gray, R.; Gray, S. W.; Hartill, D. L.; Heltsley, B. K.; Hertz, D.; Jones, C. D.; Kandaswamy, J.; Kreinick, D. L.; Kuznetsov, V. E.; Mahlke-Krüger, H.; Mohapatra, D.; Onyisi, P. U. E.; Patterson, J. R.; Peterson, D.; Pivarski, J.; Riley, D.; Ryd, A.; Sadoff, A. J.; Schwarthoff, H.; Shi, X.; Stroiney, S.; Sun, W. M.; Wilksen, T.; Athar, S. B.; Patel, R.; Yelton, J.; Rubin, P.; Cawlfield, C.; Eisenstein, B. I.; Karliner, I.; Kim, D.; Lowrey, N.; Selen, M.; White, E. J.; Wiss, J.; Mitchell, R. E.; Shepherd, M. R.; Besson, D.; Pedlar, T. K.; Cronin-Hennessy, D.; Gao, K. Y.; Hietala, J.; Kubota, Y.; Klein, T.; Lang, B. W.; Poling, R.; Scott, A. W.; Smith, A.; Zweber, P.; Dobbs, S.; Metreveli, Z.; Seth, K. K.; Tomaradze, A.; Ernst, J.; Ecklund, K. M.; Severini, H.; Love, W.; Savinov, V.; Aquines, O.; Lopez, A.; Mehrabyan, S.; Mendez, H.; Ramirez, J.; Huang, G. S.; Miller, D. H.; Pavlunin, V.; Sanghi, B.; Shipsey, I. P. J.; Xin, B.; Adams, G. S.; Anderson, M.; Cummings, J. P.; Danko, I.; Hu, D.; Moziak, B.; Napolitano, J.; He, Q.; Insler, J.; Muramatsu, H.; Park, C. S.; Thorndike, E. H.; Yang, F.

2007-08-01

We measure the decay constant fDs+ using the Ds+→ℓ+ν channel, where the ℓ+ designates either a μ+ or a τ+, when the τ+→π+ν¯. Using both measurements we find fDs+=274±13±7MeV. Combining with our previous determination of fD+, we compute the ratio fDs+/fD+=1.23±0.11±0.04. We compare with theoretical estimates.

Increased susceptibility to in vitro ultraviolet B radiation in fibroblasts and lymphocytes cultured from systemic lupus erythematosus patients

DOE Office of Scientific and Technical Information (OSTI.GOV)

Golan, T.D.; Foltyn, V.; Roueff, A.

1991-02-01

Sunlight is known to induce exacerbations of systemic lupus erythematosus (SLE) but its mechanism remains unclear. We have previously reported that ultraviolet A (UVA) exposure induces an increase in total DNA synthesis (DS) in vitro but a decrease in unscheduled DNA repair synthesis (UDRS) of splenocytes of murine SLE strains. In order to investigate whether similar observations are characteristic of human SLE, peripheral blood lymphocytes (PBL) and dermal fibroblast (DF) cultures of 20 patients and 15 matched controls were exposed in vitro to UVA or UVB at different doses. Thirteen (65%) SLE DF cultures exposed to UVB light (12-24 J/m2)more » showed an increase in DS compared to paired unirradiated cultures. In contrast, UVB-irradiated DF from normal individuals had no significant increase in DS following UVB irradiation. When SLE DF were exposed to higher doses of UVB (48-96 J/m2), 90% of cultures showed a decrease in DS compared to only 20% in the control group. All of the SLE DF cultures showed a decrease of their unscheduled DNA repair capacity following UVB (24-48 J/m2) irradiation whereas no UDRS was apparent in 74% of controls under the same conditions. Similar findings regarding UDRS were observed in SLE PBL cultures and were also confirmed by autoradiography. UVA exposure (0-3840 J/m2) had no effect on DS nor on UDRS in DF or PBL cultured from SLE and controls. The relevance of these in vitro findings to the in vivo pathogenesis of the disease is discussed.« less

An initial evaluation of the Social Communication Questionnaire for the assessment of autism spectrum disorders in children with Down syndrome.

PubMed

Magyar, Caroline I; Pandolfi, Vincent; Dill, Charles A

2012-02-01

This study investigated the psychometric properties of the Social Communication Questionnaire (SCQ) in a sample of children with Down syndrome (DS), many of whom had a co-occurring autism spectrum disorder (ASD). The SCQ is a widely used ASD screening measure; however, its measurement properties have not been comprehensively evaluated specifically in children with DS, a group that seems to be at higher risk for an ASD. Exploratory and confirmatory factor analyses, scale reliability, convergent and discriminant correlations, significance tests between groups of children with DS and DS + ASD, and diagnostic accuracy analyses were conducted. Factor analyses identified 2 reliable factors that we labeled Social-Communication and Stereotyped Behavior and Unusual Interests. Pearson correlations with Autism Diagnostic Interview-Revised subscales indicated support for the SCQ's convergent validity and some support for the discriminant validity of the factor-based scales. Significance tests and receiver operating characteristic analyses indicated that children with DS + ASD obtained significantly higher SCQ factor-based and total scores than children with DS alone, and that the SCQ Total Score evidenced good sensitivity and adequate specificity. Results indicated initial psychometric support for the SCQ as an ASD screening measure in children with DS. The SCQ should be considered as part of a multimethod evaluation when screening children with DS.

Heart rate recovery and variability following combined aerobic and resistance exercise training in adults with and without Down syndrome.

PubMed

Mendonca, Goncalo V; Pereira, Fernando D; Fernhall, Bo

2013-01-01

Persons with Down syndrome (DS) are at high risk for cardiovascular morbidity and mortality, and there is compelling evidence of autonomic dysfunction in these individuals. The main purpose of this study was to determine whether a combined aerobic and resistance exercise intervention produces similar results in cardiac autonomic function between adults with and without DS. Twenty-five participants (13 DS; 12 non-DS), aged 27-50 years, were included. Aerobic training was performed 3 days/week for 30 min at 65-85% of peak oxygen uptake (VO(2peak)). Resistance training was prescribed for 2 days/week and consisted of two rotations in a circuit of 9 exercises at 12-repetition-maximum. There was a significant improvement in the VO(2peak) and muscle strength of participants with and without DS after training. Heart rate recovery improved at 1 min post-exercise, but only in participants with DS. Both groups of participants exhibited a similar increase in normalized high frequency power and of decrease in normalized low frequency power after training. Therefore, 12 weeks of exercise training enhanced the heart rate recovery in adults with DS, but not in those without DS. Contrasting, the intervention elicited similar gains between groups for cardiovagal modulation. Copyright © 2012 Elsevier Ltd. All rights reserved.

Double-stranded RNA uptake through topical application, mediates silencing of five CYP4 genes and suppresses insecticide resistance in Diaphorina citri.

PubMed

Killiny, Nabil; Hajeri, Subhas; Tiwari, Siddharth; Gowda, Siddarame; Stelinski, Lukasz L

2014-01-01

Silencing of genes through RNA interference (RNAi) in insects has gained momentum during the past few years. RNAi has been used to cause insect mortality, inhibit insect growth, increase insecticide susceptibility, and prevent the development of insecticide resistance. We investigated the efficacy of topically applied dsRNA to induce RNAi for five Cytochrome P450 genes family 4 (CYP4) in Diaphorina citri. We previously reported that these CYP4 genes are associated with the development of insecticide resistance in D. citri. We targeted five CYP4 genes that share a consensus sequence with one dsRNA construct. Quantitative PCR confirmed suppressed expression of the five CYP4 genes as a result of dsRNA topically applied to the thoracic region of D. citri when compared to the expression levels in a control group. Western blot analysis indicated a reduced signal of cytochrome P450 proteins (45 kDa) in adult D. citri treated with the dsRNA. In addition, oxidase activity and insecticide resistance were reduced for D. citri treated with dsRNA that targeted specific CYP4 genes. Mortality was significantly higher in adults treated with dsRNA than in adults treated with water. Our results indicate that topically applied dsRNA can penetrate the cuticle of D. citri and induce RNAi. These results broaden the scope of RNAi as a mechanism to manage pests by targeting a broad range of genes. The results also support the application of RNAi as a viable tool to overcome insecticide resistance development in D. citri populations. However, further research is needed to develop grower-friendly delivery systems for the application of dsRNA under field conditions. Considering the high specificity of dsRNA, this tool can also be used for management of D. citri by targeting physiologically critical genes involved in growth and development.

Double-Stranded RNA Uptake through Topical Application, Mediates Silencing of Five CYP4 Genes and Suppresses Insecticide Resistance in Diaphorina citri

PubMed Central

Killiny, Nabil; Hajeri, Subhas; Tiwari, Siddharth; Gowda, Siddarame; Stelinski, Lukasz L.

2014-01-01

Silencing of genes through RNA interference (RNAi) in insects has gained momentum during the past few years. RNAi has been used to cause insect mortality, inhibit insect growth, increase insecticide susceptibility, and prevent the development of insecticide resistance. We investigated the efficacy of topically applied dsRNA to induce RNAi for five Cytochrome P450 genes family 4 (CYP4) in Diaphorina citri. We previously reported that these CYP4 genes are associated with the development of insecticide resistance in D. citri. We targeted five CYP4 genes that share a consensus sequence with one dsRNA construct. Quantitative PCR confirmed suppressed expression of the five CYP4 genes as a result of dsRNA topically applied to the thoracic region of D. citri when compared to the expression levels in a control group. Western blot analysis indicated a reduced signal of cytochrome P450 proteins (45 kDa) in adult D. citri treated with the dsRNA. In addition, oxidase activity and insecticide resistance were reduced for D. citri treated with dsRNA that targeted specific CYP4 genes. Mortality was significantly higher in adults treated with dsRNA than in adults treated with water. Our results indicate that topically applied dsRNA can penetrate the cuticle of D. citri and induce RNAi. These results broaden the scope of RNAi as a mechanism to manage pests by targeting a broad range of genes. The results also support the application of RNAi as a viable tool to overcome insecticide resistance development in D. citri populations. However, further research is needed to develop grower-friendly delivery systems for the application of dsRNA under field conditions. Considering the high specificity of dsRNA, this tool can also be used for management of D. citri by targeting physiologically critical genes involved in growth and development. PMID:25330026

Bone mineral density in adults with Down syndrome.

PubMed

Carfì, A; Liperoti, R; Fusco, D; Giovannini, S; Brandi, V; Vetrano, D L; Meloni, E; Mascia, D; Villani, E R; Manes Gravina, E; Bernabei, R; Onder, G

2017-10-01

This study analyzed data of bone mineral density (BMD) from a large cohort of adults with Down syndrome (DS). BMD was found to decrease with age more rapidly in these subjects than in the general population, exposing adults with DS to an increased risk of osteoporosis and bone fracture. Down syndrome (DS) in adulthood presents with a high prevalence of osteoporosis. However, in DS, bone mineral density (BMD) can be underestimated due to short stature. Furthermore, the rate of age-related decline in BMD and its association with gender in DS has been rarely evaluated or compared with the general population. The present study is aimed at assessing the variation of BMD with age and gender in a sample of adults with DS and to compare these data with those of the general population, after adjusting for anthropometric differences. Adults with DS, aged 18 or older, were assessed dual-energy-X-ray-absorptiometry (DXA) at the femoral neck and at the lumbar spine. They were compared with the general population enrolled in the National Health and Nutrition Examination Survey (NHANES) 2009-2010 dataset. Bone mineral apparent density (BMAD) was calculated for each individual. DXA was evaluated in 234 subjects with DS (mean age 36.93 ± 11.83 years, ranging from 20 to 69 years; 50.4% females). In the lumbar spine both mean BMD (DS 0.880 ± 0.141 vs. NHANES 1.062 ± 0.167, p < 0.001) and BMAD (DS 0.138 ± 0.020 vs. NHANES 0.152 ± 0.020, p < 0.001) were significantly lower in the DS sample than in the NAHNES cohort. The same trend was observed at the femoral neck in both BMD (DS 0.658 ± 0.128 vs. NHANES 0.835 ± 0.137, p < 0.001) and BMAD (DS 0.151 ± 0.030 vs. NHANES 0.159 ± 0.028, p<0.001). Age was associated with lower femoral neck BMAD in both samples; importantly, this association was significantly stronger in the DS sample. In the lumbar spine region, no significant association between BMAD and age could be observed in both samples. Adults with DS have lower bone mineral density compared to the general population and they experience a steeper decline with age. Early screening programs are needed in DS population.

Salivary Periodontopathic Bacteria in Children and Adolescents with Down Syndrome

PubMed Central

Lopes Devito, Karina; Ribeiro, Luiz Cláudio

2016-01-01

Objective To assess and compare salivary periodontopathic bacteria between groups of Down syndrome and non-Down syndrome children and adolescents. Materials and Methods This study included a sample of 30 Down syndrome children and adolescents (G-DS) and 30 age- and sex-matched non-Down syndrome subjects (G-ND). Clinical examination determined the gingival bleeding index (GBI) and plaque index. Unstimulated whole saliva samples were collected from all participants. The fluorescence in situ hybridization (FISH) technique identified the presence and density of eight periodontopathic bacteria in saliva. The statistical analysis included chi-square and Mann-Whitney U tests. Results In the G-DS group, bleeding on probing was more frequent (p = 0.037) and higher densities of Campylobacter rectus (p = 0.013), Porphyromonas gingivalis (p = 0.025), Treponema denticola (p = 0.026), Fusobacterium nucleatum (p = 0.013), Prevotella intermedia (p = 0.001) and Prevotella nigrescens (p = 0.008) were observed. Besides, in the G-DS, the densities of bacteria from the orange complex were significantly higher in the age group 3–7 years for F. nucleatum (p = 0.029), P. intermedia (p = 0.001) and P. nigrescens (p = 0.006). C. rectus was higher in the age group 8–12 years (p = 0.045). Conclusion The results showed that children and adolescents with Down syndrome have higher susceptibility to periodontal disease and number of periodontopathic bacteria. PMID:27727287

Evaluation of Brief Group-Administered Instruction for Parents to Prevent or Minimize Sleep Problems in Young Children with Down Syndrome

ERIC Educational Resources Information Center

Stores, Rebecca; Stores, Gregory

2004-01-01

Background: The study concerns the unknown value of group instruction for mothers of young children with Down syndrome (DS) in preventing or minimizing sleep problems. Method: (1) Children with DS were randomly allocated to an Instruction group (given basic information about children's sleep) and a Control group for later comparison including…

Human leukocyte antigen-C and killer cell immunoglobulin-like receptor gene polymorphisms among patients with syphilis in a Chinese Han population.

PubMed

Zhuang, Yun-Long; Ren, Gui-Jie; Tian, Ke-Li; Li, Xin-Ye; Zhu, Yong-Bao; Liu, Jin-Ling; Si, Gui-Ling; Li, Peng; Zhang, Yi; Wang, Li; Zhang, Wen-Jing; Wang, Da-Jian; Zhu, Chuan-Fu

2012-10-01

Syphilis is a sexually transmitted infection caused by the Treponema pallidum subspecies pallidum spirochete bacterium. The killer cell immunoglobulin-like receptors (KIR), interacting with human leukocyte antigens (HLA), regulate the activations of natural killer (NK) cells and certain T-cell subsets in response to microbe infection. The objective of this study was to explore whether KIR and HLA-C gene polymorphisms were associated with syphilis in a Chinese Han population. Polymerase chain reaction with sequence-specific primers (PCR-SSP) method was used to genotype KIR and HLA-C genes in 231 syphilis patients and 247 healthy controls. Framework genes KIR2DL4, KIR3DL2, KIR3DL3 and KIR3DP1 were present in all individuals. The frequencies of KIR2DS3 and KIR3DS1 were higher in syphilis patients than in healthy controls (p = 0.030 and p = 0.038, respectively), while the frequency of KIR2DS5 was higher in healthy controls than in syphilis patients (p = 0.015; OR = 0.575). The homozygote for HLA-C1 allele (HLA-C1C1) was more common in controls compared with syphilis patients (p = 0.030; OR = 0.667). The frequency of individuals with HLA-C1C1 and KIR2DL3 genotype was higher in control group relative to syphilis patient group (p = 0.018; OR = 0.647). These data indicated that KIR2DS3 and KIR3DS1 were more prevalent in syphilis patients than in controls, and that KIR2DS5, HLA-C1C1 and HLA-C1C1-KIR2DL3 were more prevalent in controls than in syphilis patients, respectively. These will require further investigation using functional studies. © 2012 The Authors APMIS © 2012 APMIS.

Does the index-to-ring finger length ratio (2D:4D) differ in amyotrophic lateral sclerosis (ALS)? Results from an international online case–control study

PubMed Central

Parkin Kullmann, Jane Alana

2017-01-01

Objectives The ratio of the length of the index finger (2D) to the ring finger (4D) (2D:4D) has been reported to be lower (ie, 2D<4D) in people with amyotrophic lateral sclerosis (ALS) than non-ALS controls. This has led to suggestions that exposure to increased prenatal testosterone, which also lowers this ratio, could be a risk factor for ALS. In an attempt to test this hypothesis, we examined 2D:4Ds from large numbers of patients with ALS and controls. Setting An online multilingual questionnaire enabling respondents to measure their own index and ring finger lengths. Participants Of the initial 949 respondents, 572 remained for analysis after elimination for inability to straighten fingers, not answering the question, statistical outliers and aged <40 years. Respondents remaining for analysis were 202 patients with ALS (125 males, 77 females) and 370 non-ALS controls (112 males, 258 females). Results Unpaired t-tests with 95% CIs were used to assess differences in mean 2D:4Ds. Males had significantly lower mean 2D:4Ds than females, in both ALS and control groups, for both left and right hands. No significant differences were found in 2D:4Ds between ALS and control groups, in either males or females, for either left or right hands. Receiver operating characteristic curves showed no power for 2D:4Ds to predict ALS status in either males or females. Conclusions 2D:4Ds did not differ between patients with ALS and controls in this study. This was despite the dataset being large enough to confirm the established finding of lower 2D:4Ds in males compared with females. These findings do not support the hypothesis that exposure to increased prenatal testosterone is a risk factor for ALS. A putative lower 2D:4D has been proposed to explain the link between ALS and exercise, but our results indicate that other exercise-related factors are more likely to explain this association. PMID:28784596

Physiological responses to single versus double stepping pattern of ascending the stairs.

PubMed

Aziz, Abdul Rashid; Teh, Kong Chuan

2005-07-01

The aim of this study was to compare the physiological responses and energy cost between two ascending patterns, the single-step (SS) and the double-step (DS), in climbing a public staircase. In the SS pattern, a person climbs one step at a time whilst in the double-step (DS) pattern, the individual traverses two steps in a single stride. Advocates of each stepping pattern claimed that their type of ascent is physically more taxing and expends more calories. Thirty subjects (10 males and 20 females) climbed a typical 11-storey flat (each step height of 0.15 m, a total of 180 steps and a vertical displacement of 27.0 m). The subjects climbed using either the SS pattern at a tempo of 100 steps x min(-1) or the DS pattern at 50 steps x min(-1). The prescribed stepping frequencies ensured that an equal amount of total work was performed between the SS and DS patterns. The climbing patterns were performed in random order. Physiological measures during the last 30 s of the climbs were used in the comparative analysis. The results showed that ventilation, oxygen uptake and heart rate values were significantly higher (all p < 0.01) in the SS as compared to the DS pattern. However, the caloric expenditure during the SS pattern was calculated to be only marginally higher than the DS pattern. In conclusion, ascending with the SS pattern led to significantly higher physiological responses compared to the DS pattern. The higher calorie expended with the SS compared to the DS pattern was deemed to be of little practical significance.

Vitamin E supplement improves erythrocyte membrane fluidity of thalassemia: an ESR spin labeling study.

PubMed

Sutipornpalangkul, Werasak; Morales, Noppawan Phumala; Unchern, Supeenun; Sanvarinda, Yupin; Chantharaksri, Udom; Fucharoen, Suthat

2012-01-01

Beta-thalassemia/Hemoglobin E (beta-thal/Hb E) is prevalent in Thailand. The imbalance of globin chains in red blood cells is the primary cause of this anemic disease. The excess alpha-globin in beta-thal/Hb E causes typical damage(s) to membrane of erythroblasts and erythrocytes. By using three paramagnetic labeled compounds (5-, 12-, and 16-spin labeled stearic acids, SLS), the changes of the molecular motion in the lipid bilayer of thalassemic RBCs that have structural modification can be detected. to investigate erythrocyte membrane fluidity and the effect of vitamin E treatment in beta-thalassemia/Hemoglobin E patients by using spin labeling techniques. The erythrocyte membrane fluidity was investigated in nine splenectomized and five non-splenectomized beta-thalassemia/hemoglobin E (beta-thal/Hb E) patients using EPR spin labeling techniques. To determine the effect of vitamin E on erythrocyte membrane fluidity, only the splenectomized patients were enrolled. Patients were divided into two groups. The first group received 350 mg vitamin E daily for a period of 1 month (n = 5) and the second group received placebo for an equal period (n = 4). Three paramagnetic fatty acid, 5-, 12-, and 16-doxyl stearic acids, (5-, 12- and 16-DS) were used to label phospholipids layer near both the surface (5-DS) and the deeper hydrophobic region of membrane (12-and 16-DS). Lipid peroxidation (TBARs) was measured using a colorimetric method. Vitamin E was measured with high performance liquid chromatography (HPLC). Significantly higher values of erythrocyte membrane fluidity were revealed with 12-, 16-DS in splenectomized patients, as compared with non-splenectomized patients and normal subjects. In 3-thal/Hb E patients, fluidity values, both outer hyperfine splitting (2T(//)) and order parameter (S) of 12-DS showed inverse correlation with serum TBARs. There was no significant difference between the fluidity values measured with 5-DS. After vitamin E supplementation, the erythrocyte membrane fluidity was decreased in almost all patients. In contrast to the vitamin E supplementation group, increased erythrocyte membrane fluidity was demonstrated in the placebo group. Vitamin E supplementation also had effect on other clinical parameters such as increased plasma vitamin E, decreased serum TBARs and no change in hemoglobin. The present results suggested the abnormal motion of lipid in the deeper phospholipids region of membrane. In addition, vitamin E supplementation may have a role in the prevention of erythrocyte membrane damage of these patients.

Influence of homogeneity of student characteristics in a group-based social competence intervention.

PubMed

Stichter, Janine P; Herzog, Melissa J; Malugen, Emily; Schoemann, Alexander M

2018-06-18

Although some literature reviews cited mixed results for group-based social competence interventions in schools, existing descriptions of intervention efficacy often lack attention on important factors that may moderate differential response. Some studies suggest that individual characteristics such as diagnosis (i.e., specific deficit clusters) or behavioral profiles may be important social outcome moderators. Given the interactive nature of group-based interventions, understanding how individual characteristics combine to influence outcomes for the group as a whole is an important next step. By using a multisite cluster randomized control trial (n = 274), the current study explores the impact that varying student characteristics have on outcomes of the Social Competence Intervention for Adolescents (SCI-A; Stichter, Herzog, Owens, & Malugen, 2016; Stichter et al., 2010) compared to outcomes of business-as-usual (BAU) practices. Researchers hypothesized that (a) SCI-A would be more effective than BAU in improving ratings of students' social functioning when students within groups were more similar to each other on relevant diagnostic and behavioral indicators, and (b) that within SCI-A only, more versus less homogenous groups would demonstrate greater social outcome gains. Results offer some support for these hypotheses: SCI-A was more effective in improving social communication and motivation when groups were diagnostically similar (ds > 0.55). Considering changes in social awareness and communication, SCI-A was more effective when groups were heterogeneous on socially competent behavior (ds > 1.32) and less effective when groups were heterogeneous on antisocial behavior (ds > 1.00). The authors discuss the implications and importance of research exploring factors such as group composition that may moderate intervention response in applied settings. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Dichotomous versus semi-quantitative scoring of ultrasound joint inflammation in rheumatoid arthritis using novel individualized joint selection methods.

PubMed

Tan, York Kiat; Allen, John C; Lye, Weng Kit; Conaghan, Philip G; Chew, Li-Ching; Thumboo, Julian

2017-05-01

The aim of the study is to compare the responsiveness of two joint inflammation scoring systems (dichotomous scoring (DS) versus semi-quantitative scoring (SQS)) using novel individualized ultrasound joint selection methods and existing ultrasound joint selection methods. Responsiveness measured by the standardized response means (SRMs) using the DS and the SQS system (for both the novel and existing ultrasound joint selection methods) was derived using the baseline and the 3-month total inflammatory scores from 20 rheumatoid arthritis patients. The relative SRM gain ratios (SRM-Gains) for both scoring system (DS and SQS) comparing the novel to the existing methods were computed. Both scoring systems (DS and SQS) demonstrated substantial SRM-Gains (ranged from 3.31 to 5.67 for the DS system and ranged from 1.82 to 3.26 for the SQS system). The SRMs using the novel methods ranged from 0.94 to 1.36 for the DS system and ranged from 0.89 to 1.11 for the SQS system. The SRMs using the existing methods ranged from 0.24 to 0.32 for the DS system and ranged from 0.34 to 0.49 for the SQS system. The DS system appears to achieve high responsiveness comparable to SQS for the novel individualized ultrasound joint selection methods.

Patterns and severity of vascular amyloid in Alzheimer's disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer's disease.

PubMed

Mann, David M A; Davidson, Yvonne S; Robinson, Andrew C; Allen, Nancy; Hashimoto, Tadafumi; Richardson, Anna; Jones, Matthew; Snowden, Julie S; Pendleton, Neil; Potier, Marie-Claude; Laquerrière, Annie; Prasher, Vee; Iwatsubo, Takeshi; Strydom, Andre

2018-05-16

In this study, we have compared the severity of amyloid plaque formation and cerebral amyloid angiopathy (CAA), and the subtype pattern of CAA pathology itself, between APP genetic causes of AD (APPdup, APP mutations), older individuals with Down syndrome (DS) showing the pathology of Alzheimer's disease (AD) and individuals with sporadic (early and late onset) AD (sEOAD and sLOAD, respectively). The aim of this was to elucidate important group differences and to provide mechanistic insights related to clinical and neuropathological phenotypes. Since lipid and cholesterol metabolism is implicated in AD as well as vascular disease, we additionally aimed to explore the role of APOE genotype in CAA severity and subtypes. Plaque formation was greater in DS and missense APP mutations than in APPdup, sEOAD and sLOAD cases. Conversely, CAA was more severe in APPdup and missense APP mutations, and in DS, compared to sEOAD and sLOAD. When stratified by CAA subtype from 1 to 4, there were no differences in plaque scores between the groups, though in patients with APPdup, APP mutations and sEOAD, types 2 and 3 CAA were more common than type 1. Conversely, in DS, sLOAD and controls, type 1 CAA was more common than types 2 and 3. APOE ε4 allele frequency was greater in sEOAD and sLOAD compared to APPdup, missense APP mutations, DS and controls, and varied between each of the CAA phenotypes with APOE ε4 homozygosity being more commonly associated with type 3 CAA than types 1 and 2 CAA in sLOAD and sEOAD. The differing patterns in CAA within individuals of each group could be a reflection of variations in the efficiency of perivascular drainage, this being less effective in types 2 and 3 CAA leading to a greater burden of CAA in parenchymal arteries and capillaries. Alternatively, as suggested by immunostaining using carboxy-terminal specific antibodies, it may relate to the relative tissue burdens of the two major forms of Aβ, with higher levels of Aβ 40 promoting a more 'aggressive' form of CAA, and higher levels of Aβ 42(3) favouring a greater plaque burden. Possession of APOE ε4 allele, especially ε4 homozygosity, favours development of CAA generally, and as type 3 particularly, in sEOAD and sLOAD.

Careers of PhD's: Academic Versus Nonacademic. A Second Report on Follow-up of Doctorate Cohorts 1935-1960.

ERIC Educational Resources Information Center

National Academy of Sciences - National Research Council, Washington, DC.

Data were collected on the careers of 10,000 holders of research degrees (PhDs, ScDs, and EdDs), via questionnaire, for a second study of PhD holders from the graduating classes of 1935, 1940, 1945, 1950, 1955, and 1960. The careers were systematically selected to represent a cross section of PhDs, and categorized into 4 groups: those always in…

Marginal and internal fit of pressed lithium disilicate inlays fabricated with milling, 3D printing, and conventional technologies.

PubMed

Homsy, Foudda R; Özcan, Mutlu; Khoury, Marwan; Majzoub, Zeina A K

2018-05-01

The subtractive and additive computer-aided design and computer-aided manufacturing (CAD-CAM) of lithium disilicate partial coverage restorations is poorly documented. The purpose of this in vitro study was to compare the marginal and internal fit accuracy of lithium disilicate glass-ceramic inlays fabricated with conventional, milled, and 3-dimensional (3D) printed wax patterns. A dentoform mandibular first molar was prepared for a mesio-occlusal ceramic inlay. Five groups of 15 inlays were obtained through conventional impression and manual wax pattern (group CICW); conventional impression, laboratory scanning of the stone die, CAD-CAM milled wax blanks (group CIDW) or 3D printed wax patterns (group CI3DW); and scanning of the master preparation with intraoral scanner and CAD-CAM milled (group DSDW) or 3D printed wax patterns (group DS3DW). The same design was used to produce the wax patterns in the last 4 groups. The replica technique was used to measure marginal and internal adaptation by using stereomicroscopy. Mixed-model ANOVA was used to assess differences according to the groups and discrepancy location (α=.05). Group DSDW showed the smallest marginal discrepancy (24.3 μm) compared with those of groups CICW (45.1 μm), CIDW (33.7 μm), CI3DW (39.8 μm), and DS3DW (39.7 μm) (P<.001). No statistically significant differences were detected among groups CICW, CIDW, CI3DW, and DS3DW relative to the marginal discrepancy. The internal discrepancy was significantly larger than the marginal discrepancy within all groups (P<.001). Lithium disilicate glass-ceramic inlays produced from digital scans and subtractive milling of wax patterns resulted in better marginal and internal fit accuracy than either conventional impression/fabrication or additive 3D manufacturing. Three-dimensional printed wax patterns yielded fit values similar to those of the conventionally waxed inlays. Copyright © 2017 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.

Evaluation of a new automated enzyme fluoroimmunoassay using recombinant plasmid dsDNA for the detection of anti-dsDNA antibodies in SLE.

PubMed

Villalta, D; Bizzaro, N; Corazza, D; Tozzoli, R; Tonutti, E

2002-01-01

ELISA methods to detect anti-double-stranded DNA (anti-dsDNA) antibodies are highly sensitive, but are less specific for the diagnosis of SLE than the immunofluorescence test on Crithidia luciliae (CLIFT) and the Farr assay because they also detect low-avidity antibodies. This study evaluated the specificity, sensitivity, positive predictive value (PPV), and negative predictive value (NPV) of a new automated fluoroimmunoassay (EliA dsDNA; Pharmacia, Freiburg, Germany). We compared the results with those obtained using a commercial CLIFT and an in-house anti-dsDNA IgG ELISA method, and verified its putative ability to detect only high-avidity anti-dsDNA antibodies. Sera from 100 SLE patients and 120 controls were studied. The control group included 20 healthy donors, 70 patients with other rheumatic diseases (32 systemic sclerosis (SSc); 18 primary Sjögren syndrome (pSS), 20 rheumatoid arthritis (RA)), and 30 patients with various infectious diseases (ID). Anti-dsDNA avidity was estimated using an ELISA method based upon the law of mass action, and a simplified Scatchard plot analysis for data elaboration; the apparent affinity constant (Kaa) was calculated and expressed as arbitrary units (L/U). Sensitivity, specificity, PPV, and NPV for SLE were 64%, 95.8%, 93.8% and 72.7%, respectively, for the EliA anti-dsDNA assay; 55%, 99.2%, 98.5%, and 68.8%, respectively, for the CLIFT; and 64%, 93.3%, 90.6%, and 72.3%, respectively, for the in-house ELISA. Although EliA anti-dsDNA was positive mainly in SLE patients with high- (Kaa>80 L/U) and intermediate- (Kaa 30-80 L/U) avidity antibodies (45.3% and 49.9%, respectively), it was also positive in five (7.8%) SLE patients with low-avidity anti-dsDNA antibodies, and five controls (three SSc, one pSS, and one ID) (mean Kaa = 16.4 +/- 9.04 L/U). In conclusion, EliA anti-dsDNA assay showed a higher sensitivity than the CLIFT, and a good specificity and PPV for SLE. Its putative ability to detect only high-avidity anti-dsDNA antibodies remains questionable. Copyright 2002 Wiley-Liss, Inc.

Neurocognitive Functioning in Patients with 22q11.2 Deletion Syndrome: A Meta-Analytic Review.

PubMed

Moberg, Paul J; Richman, Mara J; Roalf, David R; Morse, Chelsea L; Graefe, Anna C; Brennan, Laura; Vickers, Kayci; Tsering, Wangchen; Kamath, Vidyulata; Turetsky, Bruce I; Gur, Ruben C; Gur, Raquel E

2018-06-19

The 22q11.2 deletion syndrome (22q11.2DS) is a known risk factor for development of schizophrenia and is characterized by a complex neuropsychological profile. To date, a quantitative meta-analysis examining cognitive functioning in 22q11.2DS has not been conducted. A systematic review of cross-sectional studies comparing neuropsychological performance of individuals with 22q11.2DS with age-matched healthy typically developing and sibling comparison subjects was carried out. Potential moderators were analyzed. Analyses included 43 articles (282 effects) that met inclusion criteria. Very large and heterogeneous effects were seen for global cognition (d = - 1.21) and in specific neuropsychological domains (intellectual functioning, achievement, and executive function; d range = - 0.51 to - 2.43). Moderator analysis revealed a significant role for type of healthy comparison group used (typically developing or siblings), demographics (age, sex) and clinical factors (externalizing behavior). Results revealed significant differences between pediatric and adult samples, with isolated analysis within the pediatric sample yielding large effects in several neuropsychological domains (intellectual functioning, achievement, visual memory; d range = - 0.56 to - 2.50). Large cognitive deficits in intellectual functioning and specific neuropsychological variables in individuals with 22q11.2DS represent a robust finding, but these deficits are influenced by several factors, including type of comparison group utilized, age, sex, and clinical status. These findings highlight the clinical relevance of characterizing cognitive functioning in 22q11.2DS and the importance of considering demographic and clinical moderators in future analyses.

Associations of the Levels of C4d-bearing Reticulocytes and High-avidity Anti-dsDNA Antibodies with Disease Activity in Systemic Lupus Erythematosus.

PubMed

Mora, Claudia; Medina-Rosas, Jorge; Santos, Ana Maria; Jaimes, Diego A; Arbeláez, Ana M; Romero, Consuelo; Cortes, Annie; Londono, John

2016-09-01

There are no laboratory tools that detect early flares in systemic lupus erythematosus (SLE). Our aim was to validate in our population the previous findings of the association of C4d-bearing reticulocytes (R-C4d) compared to anti-dsDNA antibodies, with disease activity assessed by the Safety of Estrogens in Lupus Erythematosus National Assessment-Systemic Lupus Erythematosus Disease Activity Index (SELENA-SLEDAI) and the British Isles Lupus Assessment Group (BILAG) 2004 scales. All patients who met the 1987 American College of Rheumatology classification criteria and were seen consecutively in 2013 at a specialized SLE care clinic were included. Disease activity was established by the SELENA-SLEDAI and BILAG 2004. Anti-dsDNA and R-C4d were quantified in peripheral blood. Comparisons were made between values of active and inactive patients, and the correlations between the SELENA-SLEDAI and serum levels of anti-dsDNA and R-C4d were measured. Sixty-two patients (83.9% women) were included. A total of 32.3% had active disease according to the SELENA-SLEDAI. There was a significant statistical difference (p = 0.0001) in the distribution of R-C4d between disease activity groups. The correlation coefficient between R-C4d and the SELENA-SLEDAI score was rs = 0.738 (p = 0.0001). R-C4d differed between patients with and without activity in the BILAG 2004 constitutional, mucocutaneous, gastrointestinal, renal, and hematological domains. R-C4d showed a higher correlation with SLE activity measured by the SELENA-SLEDAI and BILAG 2004 than anti-dsDNA did, suggesting a possible involvement in diagnosing disease activity. Prospective studies that confirm these findings and evaluate its involvement in followup are needed.

Demonstrating the effects of phonological similarity and frequency on item and order memory in Down syndrome using process dissociation.

PubMed

Smith, Elizabeth; Jarrold, Christopher

2014-12-01

It is important to distinguish between memory for item information and memory for order information when considering the nature of verbal short-term memory (vSTM) performance. Although other researchers have attempted to make this distinction between item and order memory in children, none has done so using process dissociation. This study shows that such an approach can be particularly useful and informative. Individuals with Down syndrome (DS) tend to experience a vSTM deficit. These two experiments explored whether phonological similarity (Experiment 1) and item frequency (Experiment 2) affected vSTM for item and order information in a group of individuals with DS compared with typically developing (TD) vocabulary-matched children. Process dissociation was used to obtain measures of item and order memory via Nairne and Kelley's procedure (Journal of Memory and Language, 50 (2004) 113-133). Those with DS were poorer than the matched TD group for recall of both item and order information. However, in both populations, phonologically similar items reduced order memory but enhanced item memory, whereas high-frequency items resulted in improvements in both item and order memory-effects that are in line with previous research in the adult literature. These results indicate that, despite poorer vSTM performance in DS, individuals experience phonological coding of verbal input and a contribution of long-term memory knowledge to recall. These findings inform routes for interventions for those with DS, highlighting the need to enhance both item and order memory. Moreover, this work demonstrates that process dissociation is applicable and informative for studying special populations and children. Copyright © 2014 Elsevier Inc. All rights reserved.

Characteristics of intermittent smokers and their association with quit intentions in a sample of heavy-drinking HIV-infected men who have sex with men.

PubMed

Cioe, Patricia A; Gamarel, Kristi E; Pantalone, David W; Monti, Peter M; Mayer, Kenneth H; Kahler, Christopher W

2017-06-01

Intermittent smokers (ITS) have increased health risks compared with non-smokers (NS). Cigarette smoking remains prevalent among men who have sex with men (MSM) and persons living with HIV (PLWH), yet most studies in PLWH do not discriminate between daily smokers (DS) and ITS. In this study, the characteristics and quit intentions of ITS and DS are compared in a sample of heavy-drinking HIV-infected MSM. Of the 185 participants enrolled, 49.2% reported having smoked cigarettes in the past month; among those, 50.5% were DS, and 49.5% were ITS. Compared with DS, ITS were significantly more likely to be White and to have a college degree or higher. DS reported significantly higher average number of drinks per week compared with both ITS and NS. Compared with DS, ITS were significantly more likely to report future quit intentions (i.e., within 6 months or more) compared to no intentions at all; DS were more likely to report immediate quit intentions (i.e., within 30 days) compared to future quit intentions. Among heavy-drinking MSM living with HIV, intermittent smoking was associated with being White, college educated, and having future quit intentions. Considering that smoking in ITS may be less driven by nicotine dependence, tailored approaches to smoking cessation may be needed. Specifically, it may be important for interventions for ITS to address social and situational cues to smoke, including the influence of heavy alcohol use on smoking behaviors, and to provide information regarding the adverse health effects of even low-level smoking.

Age-Related Neurodegeneration and Memory Loss in Down Syndrome

PubMed Central

Lockrow, Jason P.; Fortress, Ashley M.; Granholm, Ann-Charlotte E.

2012-01-01

Down syndrome (DS) is a condition where a complete or segmental chromosome 21 trisomy causes variable intellectual disability, and progressive memory loss and neurodegeneration with age. Many research groups have examined development of the brain in DS individuals, but studies on age-related changes should also be considered, with the increased lifespan observed in DS. DS leads to pathological hallmarks of Alzheimer's disease (AD) by 40 or 50 years of age. Progressive age-related memory deficits occurring in both AD and in DS have been connected to degeneration of several neuronal populations, but mechanisms are not fully elucidated. Inflammation and oxidative stress are early events in DS pathology, and focusing on these pathways may lead to development of successful intervention strategies for AD associated with DS. Here we discuss recent findings and potential treatment avenues regarding development of AD neuropathology and memory loss in DS. PMID:22545043

The burden of respiratory syncytial virus (RSV) associated acute lower respiratory infections in children with Down syndrome: A systematic review and meta-analysis.

PubMed

Chan, Markus; Park, John J; Shi, Ting; Martinón-Torres, Federico; Bont, Louis; Nair, Harish

2017-12-01

Acute lower respiratory tract infections (ALRIs) caused by respiratory syncytial virus (RSV) are a leading cause of hospitalization in infants. Numerous risk factors have been identified in the aetiology of severe RSV-associated ALRI necessitating hospitalisation, including prematurity and congenital heart disease. Down syndrome (DS), a common genetic disorder associated with congenital and dysmorphic features, has recently been identified as an independent risk factor for RSV-associated ALRI requiring hospitalisation; however, the disease burden of RSV-associated ALRI in this population has not yet been established. Similarly, the impact of DS as an independent risk factor has not yet been quantified. We aimed therefore to estimate the incidence of admissions in children with DS, and by comparing this with unaffected children, to quantify the risk of DS independent of other risk factors. A systematic review of the existing literature published between 1995 and March 1, 2017 was performed to quantify the incidence of hospitalisation due to RSV-associated ALRI in children with DS. Meta-analyses were performed on extracted data using STATA statistical software, and hospitalisation rates for children with and without DS under the age of 2 were calculated. 5 articles were ultimately deemed eligible for analyses. Analyses were limited to children under the age of 2 years. We calculated the hospitalisation rate for children with DS in this age group to be 117.6 per 1000 child-years (95% CI 67.4-205.2), vs a rate of 15.2 per 1000 child-years (95% CI 8.3-27.6) in unaffected children. This indicates DS contributes to a 6.8 (95% CI 5.5-8.4) fold increase in the relative risk of hospitalisation for RSV-associated ALRI. Though limited by a small number of articles, this review found sufficient evidence to conclude DS was a significant independent risk factor for the development of severe RSV-associated ALRI requiring hospitalisation. Further studies are needed to define the impact of DS in conjunction with other comorbidities on the risk of severe RSV infection. Determining benefits of immunoprophylaxis or future vaccines against RSV in this at-risk population is warranted.

Set shifting and working memory in adults with attention-deficit/hyperactivity disorder.

PubMed

Rohlf, Helena; Jucksch, Viola; Gawrilow, Caterina; Huss, Michael; Hein, Jakob; Lehmkuhl, Ulrike; Salbach-Andrae, Harriet

2012-01-01

Compared to the high number of studies that investigated executive functions (EF) in children with attention-deficit/hyperactivity disorder (ADHD), a little is known about the EF performance of adults with ADHD. This study compared 37 adults with ADHD (ADHD(total)) and 32 control participants who were equivalent in age, intelligence quotient (IQ), sex, and years of education, in two domains of EF--set shifting and working memory. Additionally, the ADHD(total) group was subdivided into two subgroups: ADHD patients without comorbidity (ADHD(-), n = 19) and patients with at least one comorbid disorder (ADHD(+), n = 18). Participants fulfilled two measures for set shifting (i.e., the trail making test, TMT and a computerized card sorting test, CKV) and one measure for working memory (i.e., digit span test, DS). Compared to the control group the ADHD(total) group displayed deficits in set shifting and working memory. The differences between the groups were of medium-to-large effect size (TMT: d = 0.48; DS: d = 0.51; CKV: d = 0.74). The subgroup comparison of the ADHD(+) group and the ADHD(-) group revealed a poorer performance in general information processing speed for the ADHD(+) group. With regard to set shifting and working memory, no significant differences could be found between the two subgroups. These results suggest that the deficits of the ADHD(total) group are attributable to ADHD rather than to comorbidity. An influence of comorbidity, however, could not be completely ruled out as there was a trend of a poorer performance in the ADHD(+) group on some of the outcome measures.

Measurement of B(Ds+→l+ν) and the decay constant fDS+

NASA Astrophysics Data System (ADS)

Pedlar, T. K.; Cronin-Hennessy, D.; Gao, K. Y.; Hietala, J.; Kubota, Y.; Klein, T.; Lang, B. W.; Poling, R.; Scott, A. W.; Smith, A.; Zweber, P.; Dobbs, S.; Metreveli, Z.; Seth, K. K.; Tomaradze, A.; Ernst, J.; Ecklund, K. M.; Severini, H.; Love, W.; Savinov, V.; Aquines, O.; Lopez, A.; Mehrabyan, S.; Mendez, H.; Ramirez, J.; Huang, G. S.; Miller, D. H.; Pavlunin, V.; Sanghi, B.; Shipsey, I. P. J.; Xin, B.; Adams, G. S.; Anderson, M.; Cummings, J. P.; Danko, I.; Hu, D.; Moziak, B.; Napolitano, J.; He, Q.; Insler, J.; Muramatsu, H.; Park, C. S.; Thorndike, E. H.; Yang, F.; Artuso, M.; Blusk, S.; Butt, J.; Khalil, S.; Li, J.; Menaa, N.; Mountain, R.; Nisar, S.; Randrianarivony, K.; Sia, R.; Skwarnicki, T.; Stone, S.; Wang, J. C.; Bonvicini, G.; Cinabro, D.; Dubrovin, M.; Lincoln, A.; Asner, D. M.; Edwards, K. W.; Naik, P.; Briere, R. A.; Ferguson, T.; Tatishvili, G.; Vogel, H.; Watkins, M. E.; Rosner, J. L.; Adam, N. E.; Alexander, J. P.; Cassel, D. G.; Duboscq, J. E.; Ehrlich, R.; Fields, L.; Gibbons, L.; Gray, R.; Gray, S. W.; Hartill, D. L.; Heltsley, B. K.; Hertz, D.; Jones, C. D.; Kandaswamy, J.; Kreinick, D. L.; Kuznetsov, V. E.; Mahlke-Krüger, H.; Mohapatra, D.; Onyisi, P. U. E.; Patterson, J. R.; Peterson, D.; Pivarski, J.; Riley, D.; Ryd, A.; Sadoff, A. J.; Schwarthoff, H.; Shi, X.; Stroiney, S.; Sun, W. M.; Wilksen, T.; Athar, S. B.; Patel, R.; Yelton, J.; Rubin, P.; Cawlfield, C.; Eisenstein, B. I.; Karliner, I.; Kim, D.; Lowrey, N.; Selen, M.; White, E. J.; Wiss, J.; Mitchell, R. E.; Shepherd, M. R.; Besson, D.

2007-10-01

We examine e+e-→Ds-Ds*+ and Ds*-Ds+ interactions at 4170 MeV using the CLEO-c detector in order to measure the decay constant fDs+. We use the Ds+→ℓ+ν channel, where the ℓ+ designates either a μ+ or a τ+, when the τ+→π+ν¯. Analyzing both modes independently, we determine B(Ds+→μ+ν)=(0.594±0.066±0.031)%, and B(Ds+→τ+ν)=(8.0±1.3±0.4)%. We also analyze them simultaneously to find an effective value of Beff(Ds+→μ+ν)=(0.638±0.059±0.033)% and extract fDs+=274±13±7MeV. Combining with our previous determination of B(D+→μ+ν), we also find the ratio fDs+/fD+=1.23±0.11±0.04. We compare to current theoretical estimates. Finally, we find B(Ds+→e+ν)<1.3×10-4 at 90% confidence level.

Gaussian broad-beam excimer laser: clinical and experimental results.

PubMed

Schraepen, P; Eskina, E; Gobin, L; Trau, R; Timmermans, J; Tassignon, M J

2005-01-01

To evaluate the mid-term (1-3 years) results of the Gaussian broad-beam excimer laser Delivery System (DS) after single treatment for the correction of myopia. To study the corneal surface with scanning electron microscopy (SEM) after excimer laser ablation using a flying spot delivery system (Bausch & Lomb) and a Gaussian Delivery System (GDS) (InPro). The 1035 consecutive eyes studied were split in four groups with respect to the treated myopia, expressed in spherical equivalent: low myopia up to -3.00 D (183 eyes), moderate myopia from -3.25 D to -6.00 D (540 eyes), high myopia from -6.25 D to -10.00 D (210 eyes) and very high myopia from -10.25 D to -20.00 D (102 eyes). Four post-mortem eyes of two donors were treated using the flying spot DS on one eye and the GDS on the other eye. We achieved postoperative spheriqual equivalent within +/- 1 D of emmetropia in respectively 99.1%, 98.9%, 83% and 21% of the eyes of group 1, 2, 3 and 4. UCVA was 10/10 or better in respectively 65%, 51% and 19% of group 1, 2 and 3. UCVA was 5/10 or better in respectively 86% and 75% of group 3 and 4. The defocus equivalent refraction was 1.0 or less in respectively 98%, 93%, 62%, and 7% of the four groups. On SEM, the corneal surface presented a smooth and polished profile for the GDS. The Gaussian Delivery System gives comparable results to the flying spot laser system for surface laser ablation in myopic eyes up to -10 D. Advantages of this system are: smooth ablation surface, short treatment time, low haze rate, high reliability and easy maintenance of the device due to the optical DS. It is an interesting alternative for the more complex mechanical DS.

Multimodal MRI reveals structural connectivity differences in 22q11 deletion syndrome related to impaired spatial working memory.

PubMed

O'Hanlon, Erik; Howley, Sarah; Prasad, Sarah; McGrath, Jane; Leemans, Alexander; McDonald, Colm; Garavan, Hugh; Murphy, Kieran C

2016-12-01

Impaired spatial working memory is a core cognitive deficit observed in people with 22q11 Deletion syndrome (22q11DS) and has been suggested as a candidate endophenotype for schizophrenia. However, to date, the neuroanatomical mechanisms describing its structural and functional underpinnings in 22q11DS remain unclear. We quantitatively investigate the cognitive processes and associated neuroanatomy of spatial working memory in people with 22q11DS compared to matched controls. We examine whether there are significant between-group differences in spatial working memory using task related fMRI, Voxel based morphometry and white matter fiber tractography. Multimodal magnetic resonance imaging employing functional, diffusion and volumetric techniques were used to quantitatively assess the cognitive and neuroanatomical features of spatial working memory processes in 22q11DS. Twenty-six participants with genetically confirmed 22q11DS aged between 9 and 52 years and 26 controls aged between 8 and 46 years, matched for age, gender, and handedness were recruited. People with 22q11DS have significant differences in spatial working memory functioning accompanied by a gray matter volume reduction in the right precuneus. Gray matter volume was significantly correlated with task performance scores in these areas. Tractography revealed extensive differences along fibers between task-related cortical activations with pronounced differences localized to interhemispheric commissural fibers within the parietal section of the corpus callosum. Abnormal spatial working memory in 22q11DS is associated with aberrant functional activity in conjunction with gray and white matter structural abnormalities. These anomalies in discrete brain regions may increase susceptibility to the development of psychiatric disorders such as schizophrenia. Hum Brain Mapp 37:4689-4705, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Self-Reported Presence and Experience of Pain in Adults with Down Syndrome.

PubMed

de Knegt, Nanda C; Lobbezoo, Frank; Schuengel, Carlo; Evenhuis, Heleen M; Scherder, Erik J A

2017-07-01

The aim was to examine whether the presence of pain (based on physical conditions and participants' report) and self-reported pain experience in adults with Down syndrome (DS) differ from general population controls. Cross-sectional study of 224 adults with DS (mean age = 38.1 years, mild-severe intellectual disabilities) and 142 age-matched controls (median age = 40.5 years, mean estimated IQ = 105.7) in the Netherlands. File-based medical information was evaluated. Self-reported presence and experience of pain were assessed in rest and after movement during a test session (affect with facial affective scale (FAS: 0.04-0.97), intensity assessed with numeric rating scale (NRS: 0-10). Compared with controls, more DS participants had physical conditions that may cause pain and/or discomfort ( p  = .004, 50% vs 35%), but fewer DS participants reported pain during the test session ( p  = .003, 58% vs 73%). Of the participants who indicated pain and comprehended self-reporting scales ( n  = 198 FAS, n  = 161 NRS), the DS group reported a higher pain affect and intensity than the controls ( p  < .001, FAS: 0.75-0.85 vs 0.50-0.59, NRS: 6.00-7.94 vs 2.00-3.73). Not all adults with DS and painful/discomforting physical conditions reported pain. Those who did indicated a higher pain experience than adults from the general population. Research into spontaneous self-report of pain, repeated pain assessment, and acute pain is needed in people with DS for more insight into pain experience and mismatches between self-report and medical information. © 2016 American Academy of Pain Medicine. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

The burden of trisomy 21 disrupts the proteostasis network in Down syndrome

PubMed Central

Rauniyar, Abhishek K.; Jiang, Hua; Liggett, L. Alexander; Maclean, Kenneth N.

2017-01-01

Down syndrome (DS) is a genetic disorder caused by trisomy of chromosome 21. Abnormalities in chromosome number have the potential to lead to disruption of the proteostasis network (PN) and accumulation of misfolded proteins. DS individuals suffer from several comorbidities, and we hypothesized that disruption of proteostasis could contribute to the observed pathology and decreased cell viability in DS. Our results confirm the presence of a disrupted PN in DS, as several of its elements, including the unfolded protein response, chaperone system, and proteasomal degradation exhibited significant alterations compared to euploid controls in both cell and mouse models. Additionally, when cell models were treated with compounds that promote disrupted proteostasis, we observed diminished levels of cell viability in DS compared to controls. Collectively our findings provide a cellular-level characterization of PN dysfunction in DS and an improved understanding of the potential pathogenic mechanisms contributing to disrupted cellular physiology in DS. Lastly, this study highlights the future potential of designing therapeutic strategies that mitigate protein quality control dysfunction. PMID:28430800

Risk of Stroke in Patients With Short-Run Atrial Tachyarrhythmia.

PubMed

Yamada, Shinya; Lin, Chin-Yu; Chang, Shih-Lin; Chao, Tze-Fan; Lin, Yenn-Jiang; Lo, Li-Wei; Chung, Fa-Po; Hu, Yu-Feng; Tuan, Ta-Chuan; Liao, Jo-Nan; Te, Abigail Louise D; Chang, Yao-Ting; Chang, Ting-Yung; Wu, Cheng-I; Higa, Satoshi; Chen, Shih-Ann

2017-12-01

The risk of stroke in patients with short-run atrial tachyarrhythmia (AT) remains unclear. This study aimed to investigate the relationship between short-run AT and the stroke and the use of the CHA 2 DS 2 -VASc score for the risk stratification. From the registry of 24-hour Holter monitoring, 5342 subjects without known atrial fibrillation or stroke were enrolled. Short-run AT was defined as episodes of supraventricular ectopic beats <5 seconds. There were 1595 subjects (29.8%) with short-run AT. During the median follow-up period of 9.0 years, 494 subjects developed new-onset stroke. Patients with short-run AT had significantly higher stroke rates compared with patients without short-run AT (11.4% versus 8.3%; P <0.001). In patients with short-run AT, the number of strokes per 100 person-years for patients with CHA 2 DS 2 -VASc score of 0 and 1 were 0.23 and 0.67, respectively. However, the number of them for patients with CHA 2 DS 2 -VASc score of 2, 3, 4, and ≥5 were 1.62, 1.89, 1.30, and 2.91, respectively. In patients with CHA 2 DS 2 -VASc score of 0 or 1, age (>61 years old) and burden of premature atrial contractions (>25 beats/d) independently predicted the risk of stroke. In subgroup analyses, short-run AT patients were divided into 3 groups based on their CHA 2 DS 2 -VASc scores: low score (score of 0 [men] or 1 [women]; n=324), intermediate score (score of 1 [men] or 2 [women]; n=275), and high score (score of ≥2 [men] or ≥3 [women]; n=996). When compared with low score, intermediate and high scores were independent predictors for stroke (hazard ratio, 6.165; P <0.001 and hazard ratio, 8.577; P <0.001, respectively). Short-run AT increases the risk of stroke. Therefore, the CHA 2 DS 2 -VASc score could be used for the risk stratification. Age and burden of premature atrial contractions were independent predictors for stroke in patients with CHA 2 DS 2 -VASc score of 0 or 1. © 2017 American Heart Association, Inc.

Comparative effects of valsartan in combination with cilnidipine or amlodipine on cardiac remodeling and diastolic dysfunction in Dahl salt-sensitive rats.

PubMed

Nagasawa, Kai; Takahashi, Keiji; Matsuura, Natsumi; Takatsu, Miwa; Hattori, Takuya; Watanabe, Shogo; Harada, Eri; Niinuma, Kazumi; Murohara, Toyoaki; Nagata, Kohzo

2015-01-01

Angiotensin receptor blockers (ARBs) are often supplemented with calcium channel blockers (CCBs) for treatment of hypertension. We recently showed that the L/N-type CCB cilnidipine has superior cardioprotective effects compared with the L-type CCB amlodipine in Dahl salt-sensitive (DS) rats. We have now compared the effects of the ARB valsartan combined with cilnidipine or amlodipine on cardiac pathophysiology in DS rats. DS rats fed a high-salt diet from 6 weeks of age were treated with vehicle, valsartan alone (10 mg kg(-1) per day), or valsartan combined with either cilnidipine (1 mg kg(-1) per day) or amlodipine (1 mg kg(-1) per day) from 7 to 11 weeks. The salt-induced increase in systolic blood pressure apparent in the vehicle group was attenuated similarly in the three drug treatment groups. Valsartan-cilnidipine attenuated left ventricular (LV) fibrosis and diastolic dysfunction as well as cardiac oxidative stress and inflammation to a greater extent than did valsartan alone or valsartan-amlodipine. In addition, the increases in urinary excretion of dopamine and epinephrine as well as in cardiac renin-angiotensin-aldosterone-system (RAAS) gene expression apparent in vehicle-treated rats were attenuated to a greater extent by valsartan-cilnidipine than by the other two treatments. Valsartan-cilnidipine thus attenuated LV remodeling and diastolic dysfunction more effectively than did valsartan or valsartan-amlodipine in rats with salt-sensitive hypertension, and this superior cardioprotective action of valsartan-cilnidipine compared with valsartan-amlodipine is likely attributable, at least in part, to the greater antioxidant and antiinflammatory effects associated with both greater inhibition of cardiac RAAS gene expression and N-type calcium channel blockade.

Effect of methylphenidate on attention in apathetic AD patients in a randomized, placebo-controlled trial.

PubMed

Lanctôt, Krista L; Chau, Sarah A; Herrmann, Nathan; Drye, Lea T; Rosenberg, Paul B; Scherer, Roberta W; Black, Sandra E; Vaidya, Vijay; Bachman, David L; Mintzer, Jacobo E

2014-02-01

Little is known about the effect of methylphenidate (MPH) on attention in Alzheimer's disease (AD). MPH has shown to improve apathy in AD, and both apathy and attention have been related to dopaminergic function. The goal was to investigate MPH effects on attention in AD and assess the relationship between attention and apathy responses. MPH (10 mg PO twice daily) or placebo was administered for six weeks in a randomized, double-blind trial in mild-to-moderate AD outpatients with apathy (Neuropsychiatric Inventory (NPI) Apathy ≥ 4). Attention was measured with the Wechsler Adult Intelligence Scale--Digit Span (DS) subtest (DS forward, selective attention) and apathy with the Apathy Evaluation Scale (AES). A mixed effects linear regression estimated the difference in change from baseline between treatment groups, defined as δ (MPH (DS week 6-DS baseline)) - (placebo (DS week 6-DS baseline)). In 60 patients (37 females, age = 76 ± 8, Mini-Mental State Examination (MMSE) = 20 ± 5, NPI Apathy = 7 ± 2), the change in DS forward (δ = 0.87 (95% CI: 0.06-1.68), p = 0.03) and DS total (δ = 1.01 (95% CI: 0.09-1.93), p = 0.03) favored MPH over placebo. Of 57 completers, 17 patients had improved apathy (≥3.3 points on the AES from baseline to end point) and 40 did not. There were no significant associations between AES and NPI Apathy with DS change scores in the MPH, placebo, AES responder, or non-responder groups. DS scores did not predict apathy response to MPH treatment. These results suggest MPH can improve attention and apathy in AD; however, the effects appear independent in this population.

Subthreshold social cognitive deficits may be a key to distinguish 22q11.2DS from schizophrenia.

PubMed

Peyroux, Elodie; Rigard, Caroline; Saucourt, Guillaume; Poisson, Alice; Plasse, Julien; Franck, Nicolas; Demily, Caroline

2018-03-25

Social cognitive impairments are core features in 22q11.2 deletion syndrome (22q11.2DS) and schizophrenia (SCZ). Indeed, adults with 22q.11.2 DS often have poorer social competence as well as poorer performance on measures of social cognitive skills (emotion recognition and theory of mind, ToM) compared with typically developing people. However, studies comparing specific social cognitive components in 22q11.2DS and SCZ have not yet been widely conducted. In this study we compared performances of 22q11.2DS and SCZ on both facial emotion recognition and ToM. Patients with 22q11.2DS (n = 18) and matched SCZ patients were recruited. After neuropsychological testing, the facial emotion recognition test assessed the patients' ability to recognize six basic, universal emotions (joy, anger, sadness, fear, disgust, and contempt). The Versailles-situational intentional reading evaluated ToM with six scenes from movies showing characters in complex interactions (involving hints, lies, and indirect speech). We show that 22q11.2DS exhibited significantly lower performance in emotion recognition than SCZ patients did, especially for disgust, contempt, and fear. This impairment seems to be a core cognitive phenotype in 22q11.2DS, regardless of the presence of SCZ symptoms. Concerning ToM, our results may highlight the same impairment level in 22q11.2DS and SCZ but require to be replicated in a larger cohort. Our results document the existence of threshold social cognitive deficits distinguishing 22q11.2DS from SCZ. © 2018 John Wiley & Sons Australia, Ltd.

Evolution of double-stranded DNA viruses of eukaryotes: from bacteriophages to transposons to giant viruses

PubMed Central

Koonin, Eugene V; Krupovic, Mart; Yutin, Natalya

2015-01-01

Diverse eukaryotes including animals and protists are hosts to a broad variety of viruses with double-stranded (ds) DNA genomes, from the largest known viruses, such as pandoraviruses and mimiviruses, to tiny polyomaviruses. Recent comparative genomic analyses have revealed many evolutionary connections between dsDNA viruses of eukaryotes, bacteriophages, transposable elements, and linear DNA plasmids. These findings provide an evolutionary scenario that derives several major groups of eukaryotic dsDNA viruses, including the proposed order “Megavirales,” adenoviruses, and virophages from a group of large virus-like transposons known as Polintons (Mavericks). The Polintons have been recently shown to encode two capsid proteins, suggesting that these elements lead a dual lifestyle with both a transposon and a viral phase and should perhaps more appropriately be named polintoviruses. Here, we describe the recently identified evolutionary relationships between bacteriophages of the family Tectiviridae, polintoviruses, adenoviruses, virophages, large and giant DNA viruses of eukaryotes of the proposed order “Megavirales,” and linear mitochondrial and cytoplasmic plasmids. We outline an evolutionary scenario under which the polintoviruses were the first group of eukaryotic dsDNA viruses that evolved from bacteriophages and became the ancestors of most large DNA viruses of eukaryotes and a variety of other selfish elements. Distinct lines of origin are detectable only for herpesviruses (from a different bacteriophage root) and polyoma/papillomaviruses (from single-stranded DNA viruses and ultimately from plasmids). Phylogenomic analysis of giant viruses provides compelling evidence of their independent origins from smaller members of the putative order “Megavirales,” refuting the speculations on the evolution of these viruses from an extinct fourth domain of cellular life. PMID:25727355

Chondroitin sulfate/dermatan sulfate sulfatases from mammals and bacteria.

PubMed

Wang, Shumin; Sugahara, Kazuyuki; Li, Fuchuan

2016-12-01

Sulfatases that specifically catalyze the hydrolysis of the sulfate groups on chondroitin sulfate (CS)/dermatan sulfate (DS) poly- and oligosaccharides belong to the formylglycine-dependent family of sulfatases and have been widely found in various mammalian and bacterial organisms. However, only a few types of CS/DS sulfatase have been identified so far. Recently, several novel CS/DS sulfatases have been cloned and characterized. Advanced studies have provided significant insight into the biological function and mechanism of action of CS/DS sulfatases. Moreover, further studies will provide powerful tools for structural and functional studies of CS/DS as well as related applications. This article reviews the recent progress in CS/DS sulfatase research and is expected to initiate further research in this field.

Potential etiopathogenesis of seventh day syndrome following living donor liver transplantation: ischemia of the graft?

PubMed

Lan, Xiang; Li, Bo; Wang, Xiao-Fei; Wei, Yong-Gang; Yan, Lu-Nan; Zhao, Ji-Chun

2010-02-01

Seventh-day syndrome (7DS) is an early serious complication following liver transplantation with a high mortality because of its unknown etiopathogenesis. This study aimed to analyze the potential etiopathogenesis of 7DS. A retrospective analysis of 98 consecutive living donor liver transplants performed from 2001 to 2007 at our center revealed that 5 patients had suffered from 7DS; their age, MELD score, portal vein inflow and other parameters were compared with those of the other recipients. The 5 patients showed common features: (a) initial uneventful recovery, and a dramatic rise of serum liver enzyme levels 1 to 2 weeks later; (b) decreased inflow in the portal vein accompanied by augmentation of serum creatinine and urea nitrogen level; and (c) serial liver biopsy findings of apoptosis and ischemic necrosis of hepatocytes. Four of the 5 patients died. Age, waiting time to transplantation, MELD score, operation time, cold ischemic time, portal interceptive time and diameter of the portal vein were not significantly different between the 2 groups, but a difference was found in the flow rate of the portal vein (t=3.234, P<0.001). The 5 patients suffered from a decreased portal vein inflow, ischemic liver necrosis, and renal failure. Hence, hypoperfusion of the liver graft was considered to be the etiopathogenesis of 7DS, for which, however sufficient evidence is lacking. More studies of 7DS are needed.

Environmental Enrichment Rescues Postnatal Neurogenesis Defect in the Male and Female Ts65Dn Mouse Model of Down Syndrome

PubMed Central

Chakrabarti, Lina; Scafidi, Joseph; Gallo, Vittorio; Haydar, Tarik F.

2011-01-01

Down syndrome (DS), the most frequent genetic cause of intellectual disability and developmental delay, results from impaired neural stem cell proliferation and differentiation. Impaired neurogenesis in the neocortex, hippocampus and cerebellum is believed to be the underlying cause of learning and behavioral deficits in the Ts65Dn mouse model of DS. Aggressive sensorimotor and cognitive therapies have shown promise in mitigating the cognitive disabilities in DS but these behavioral therapies have not yet been investigated at the cellular level. Here, using the Ts65Dn mouse model of DS, we demonstrate that a combination of environmental enrichment and physical exercise starting in juvenile mice (postnatal day 18) markedly increases cell proliferation, neurogenesis and gliogenesis in the hippocampal dentate gyrus (DG) and the forebrain subventricular zone (SVZ) of both male and female mice. Enrichment and exercise increased the rate of Ts65Dn DG neurogenesis to be comparable to that of the nonenriched euploid group, while the effect on SVZ neurogenesis was reduced and seen only after prolonged exposure. These results clearly indicate that in a comprehensive stimulatory environment, the postnatal DS brain has the intrinsic capability of improving neurogenesis and gliogenesis to the levels of normal matched controls and that this cellular response underlies the cognitive improvement seen following behavioral therapies. PMID:21865665

[Impact of CHA2DS2 VASc score on substrate for persistent atrial fibrillation and outcome post catheter ablation of atrial fibrillation].

PubMed

Ribo, Tang; Jianzeng, Dong; Xiaohui, Liu; Meisheng, Shang; Ronghui, Yu; Deyong, Long; Xin, Du; Junping, Kang; Jiahui, Wu; Man, Ning; Caihua, Sang; Chenxi, Jiang; Rong, Bai; Songnan, Li; Yan, Yao; Songnan, Wen; Changsheng, Ma

2015-08-01

To explore if CHA2DS2 VASc score can predict substrate for persistent atrial fibrillation ( AF) and outcome post catheter ablation of AF. From January 2011 to December 2012,116 patients underwent catheter ablation of persistent AF in our department and were enrolled in this study. CHA2DS2VASc score was calculated as follows: two points were assigned for a history of stroke or transient ischemic attack and age ≥ 75 and 1 point each was assigned for age ≥ 65, a history of hypertension, diabetes,recent cardiac failure, vessel disease, female. Left atrial geometry ( LA) was reconstructed with a 3.5 mm tip ablation catheter with fill-in threshold 10 in CARTO system. The mapping catheter was stabled at each endocardial location for at least 3 seconds for recording. The electrogram recordings at each endocardial location were analyzed with a custom software embedded in the CARTO mapping system. Interval confidence level (ICL) was used to characterize complex fractionated atrial electrograms (CFAEs) . As the default setting of the software, ICL more than or equal to 7 was considered sites with a highly repetitive CFAEs complex. CFAEs index was defined as the fraction of area of ICL more than or equal to 7 to the left atrial surface. The CFAEs index and outcome of catheter ablation among different CHA2DS2VASc groups were compared. Of the 116 patients, CHA2DS2VASc was 0 in 33 patients, 1 in 31 patients and ≥ 2 in 52 patients. Left atrial surface ((121.2 ± 18.9) cm2, (133.6 ± 23.8) cm2, (133.9 ± 16.1) cm2, P = 0.008), left atrial volume ((103.6 ± 24.8) ml, (118.3 ± 27.8) ml, (120.9 ± 20.9) ml, P = 0.005) and CFAEs index (44.6% ± 22.4%, 54.2% ± 22.2%, 58.7% ± 23.1%, P = 0.023) increased in proportion with increasing CHA2DS2VASc. ICLmax, ICLmin and CFAEs spatial distribution were similar among the three groups. During the mean follow-up of (13 ± 8) months, the recurrence rate were 36.4%, 35.5%, 55.8% among the three groups (P = 0.025). A high CHA2DS2VASc score is associated with extensive AF substrate and higher recurrence rate post catheter ablation of persistent AF.

Stereotactic Radiosurgery With or Without Whole-Brain Radiation Therapy for Limited Brain Metastases: A Secondary Analysis of the North Central Cancer Treatment Group N0574 (Alliance) Randomized Controlled Trial.

PubMed

Churilla, Thomas M; Ballman, Karla V; Brown, Paul D; Twohy, Erin L; Jaeckle, Kurt; Farace, Elana; Cerhan, Jane H; Anderson, S Keith; Carrero, Xiomara W; Garces, Yolanda I; Barker, Fred G; Deming, Richard; Dixon, Jesse G; Burri, Stuart H; Chung, Caroline; Ménard, Cynthia; Stieber, Volker W; Pollock, Bruce E; Galanis, Evanthia; Buckner, Jan C; Asher, Anthony L

2017-12-01

To determine whether whole-brain radiation therapy (WBRT) is associated with improved overall survival among non-small cell lung cancer (NSCLC) patients with favorable prognoses at diagnosis. In the N0574 trial, patients with 1 to 3 brain metastases were randomized to receive stereotactic radiosurgery (SRS) or SRS plus WBRT (SRS + WBRT), with a primary endpoint of cognitive deterioration. We calculated diagnosis-specific graded prognostic assessment (DS-GPA) scores for NSCLC patients and evaluated overall survival according to receipt of WBRT and DS-GPA score using 2 separate cut-points (≥2.0 vs <2.0 and ≥2.5 vs <2.5). A total of 126 NSCLC patients were included for analysis, with median follow-up of 14.2 months. Data for DS-GPA calculation were available for 86.3% of all enrolled NSCLC patients. Overall, 50.0% of patients had DS-GPA score ≥2.0, and 23.0% of patients had DS-GPA scores ≥2.5. The SRS and SRS + WBRT groups were well balanced with regard to prognostic factors. The median survival according to receipt of WBRT was 11.3 months (+WBRT) and 17.9 months (-WBRT) for patients with DS-GPA ≥2.0 (favorable prognoses, P=.63; hazard ratio 0.86; 95% confidence interval 0.47-1.59). Median survival was 3.7 months (+WBRT) and 6.6 months (-WBRT) for patients with DS-GPA <2.0 patients (unfavorable prognoses, P=.85; hazard ratio 0.95; 95% confidence interval 0.56-1.62). Outcomes according to the receipt of WBRT and DS-GPA remained similar utilizing DS-GPA ≥2.5 as a cutoff for favorable prognoses. There was no interaction between the continuum of the DS-GPA groups and WBRT on overall survival (P=.53). We observed no significant differences in survival according to receipt of WBRT in favorable-prognosis NSCLC patients. This study further supports the approach of SRS alone in the majority of patients with limited brain metastases. Copyright © 2017 Elsevier Inc. All rights reserved.

[Expression analysis of a transformer gene in Daphnia pulex after RNAi].

PubMed

Guo, C Y; Chen, P; Zhang, M M; Ning, J J; Wang, С L; Wang, D L; Zhao, Y L

2016-01-01

In order to explore the importance of the transformer (tra) gene in reproductive mode switching in Daphnia pulex, we studied the effect of silencing of this gene using RNA interference (RNAi). We obtained Dptra dsRNA by constructing and using a dsRNA expression vector and transcription method in vitro. D. pulex individuals in different reproductive modes were treated by soaking in a solution of Dptra dsRNA. We then assayed the expression of the endogenous Dptra mRNA after RNAi treatment using RT-PCR and obtained the suppression ratio. Expression of the tra gene in the RNAi groups was down-regulated compared with the controls after 16 h (p < 0.05). We also analyzed the effect of RNAi on the expression of the TRA protein using Western blot, which showed that the expression level of the TRA protein was reduced after RNAi treatment. Our experimental results showed that soaking of D. pulex adults in tra-specific dsRNA transcribed in vitro can specifically reduce the level of tra mRNA and also reduce the expression of the TRA protein, demonstrating effective in vivo silencing of the tra gene.

[Rising infant mortality in down syndrome in Chile from 1997 to 2013].

PubMed

Donoso, Enrique; Vera, Claudio

2016-11-01

Down syndrome (DS) is associated with higher child mortality especially due to cardiac malformations. To describe the trend in Chilean infant mortality in DS in the period 1997-2013 as compared to the general population without DS. Raw data on infant deaths were extracted from the yearbooks of vital statistics of the National Institute of Statistics. The mortality risk associated to DS, relative to population without DS was estimated. There were 456 deaths in infants with DS during the study period (59 early neonatal deaths, 70 late neonatal deaths and 327 post-neonatal deaths). The trend in infant mortality rate in DS was ascending (r: 0.53, p = 0.03), with an average annual percentage change of 4.6% (95% confidence interval (CI) 0.4-9.0%; p < 0.01). Compared to the population without DS, the risk of early neonatal death was lower in DS (Odds ratio (OR) 0.14, 95% CI 0.11-0.19; p < 0.01) whereas the risk of post-neonatal death was higher (OR 4.74, 95% CI 3.85-5.85; p < 0.01). Infant mortality in Down syndrome has an increasing trend. We postulate that these children are not accessing timely cardiac surgery, the main therapeutic tool to reduce the death risk in the first year of life.

Biomimetic mineralization: long-term observations in patients with dentin sensitivity.

PubMed

Guentsch, Arndt; Seidler, Karin; Nietzsche, Sandor; Hefti, Arthur F; Preshaw, Philip M; Watts, David C; Jandt, Klaus D; Sigusch, Bernd W

2012-04-01

Cervical tooth erosion is increasingly observed among adults and frequently associated with dentin sensitivity (DS). This study evaluated the effectiveness on DS of a biomimetic mineralization system (BIMIN) in comparison to the current standard treatment (Gluma(®) Desensitizer, Gluma). In this single-blind, 2-arm study, 40 patients with confirmed cervical DS were randomized to either the test group or the positive control group. A Visual-Analog-Scale (VAS) was used to assess DS following stimulation of the exposed dentin with a 2-s air blast. Assessments were made at baseline (pre-treatment), 2 days, 4, 8 and 12 weeks, and 12 months after treatment. Two-stage replicas were obtained from the treated teeth and gold sputtered at baseline, and 2 days, 3 and 12 months after treatment. Surface topography of the treated cervical lesions and occlusion of dentinal tubules were investigated using scanning electron microscopy (SEM). Both treatments led to a statistically significant reduction (P<0.0001) in DS that persisted over the entire 12-month observation period. Differences in DS between the treatments were not statistically significant. SEM photomicrographs demonstrated that a mineral layer concealed the dentinal tubules in the test group. In contrast, numerous dentinal tubules remained visible in cervical defects that were treated with Gluma. A biomimetic mineralization kit was successfully used to treat patients exhibiting DS. The effect was similar to using Gluma, and was likely the result of the deposition of an enamel-like layer on the exposed cervical dentin. Copyright © 2012 Academy of Dental Materials. Published by Elsevier Ltd. All rights reserved.

Effect of whole body vibration training on bone mineral density and bone quality in adolescents with Down syndrome: a randomized controlled trial.

PubMed

Matute-Llorente, A; González-Agüero, A; Gómez-Cabello, A; Olmedillas, H; Vicente-Rodríguez, G; Casajús, J A

2015-10-01

Adolescents with Down syndrome (DS) have poorer bone health than their peers without DS. Twenty-five adolescents with DS were randomly assigned to whole-body vibration training (WBV) or control groups. The results indicate that a 20-week WBV might be useful to improve subtotal bone mineral content and density in adolescents with DS. This study aims to determine the effects of 20 weeks of whole body vibration training (WBV) on bone mineral content (BMC), density (BMD), and structure variables in adolescents with Down syndrome (DS). This randomized controlled trial of 25 adolescents (12-18 years) with DS (8 females) generated 2 non-equal groups, WBV group (n = 11) and CON group (n = 14). Using an efficacy analysis, the primary outcomes were BMC and BMD by dual-energy X-ray absorptiometry and the secondary were bone structure variables by peripheral quantitative computed tomography. A synchronous vibration platform (PowerPlate®) was used (3/week, 10 repetitions (30-60 s) 1-min rest, frequency of 25-30 Hz, and peak-to-peak displacement of 2 mm (peak acceleration 2.5-3.6 g)). WBV group improved whole body BMC 2.8%, 95% CI [3.5, 2.1], subtotal area, BMC, and BMD by 2.8, 4.8, and 2%, respectively, 95% confidence intervals (CIs) [3.4, 2.1], [6.5, 3.1], and [2.8, 1.1], respectively (all, p < 0.05), showing group by time interactions in BMC and BMD (both p < 0.05). Lumbar spine BMC and BMD also increased in the WBV group by 6.6 and 3.3% both p < 0.05, 95 % CIs [8.6, 4.7], and [4.9, 1.7], respectively. Regarding bone structure, WBV group showed improvements in tibial BMC at 4 % (2.9 %, 95 % CI [3.0, 2.8]) and in volumetric BMD (vBMD), cortical vBMD, and cortical thickness at 66% of the radius (by 7.0, 2.4, and 10.9%; 95% CIs [7.4, 6.7], [2.6, 2.3], and [12.4, 9.3], respectively) (all, p < 0.05). A 20-week WBV, with this protocol, might be useful to improve subtotal BMC and BMD in adolescents with DS.

Management of pregnancy-related emergencies: what do Polish anesthesiologists know?

PubMed

Grzeskowiak, M; Kuczkowski, K M; Drobnik, L

2013-02-01

Emergencies can occur at any time during pregnancy. In addition to obstetricians and midwives, anesthesiologists should also be familiar with pregnancy-related emergencies. The aim of this study was to assess the basic and advanced knowledge regarding the management of pregnancy-related emergencies of anesthesiologists. An anonymous questionnaire was distributed to anesthesiologists at two conferences (S1, n = 87; S2, n = 35), and to other groups comprising doctors during specialization (DS, n = 28) and postgraduate doctors (PD, n = 130). Ultimately, 280 doctors were included in the survey. The first part of the questionnaire collected demographics, and a second one evaluated both their basic and advanced knowledge by taxonomy. Basic knowledge regarding the management of pregnancy-related emergencies of the tested group was poorer compared with advanced knowledge. The DS group had better basic management skills than anesthesiology specialists and the PD group. Significantly worse results of the tested group were obtained on the questions about maneuvers for choking pregnant women and time to cesarean section during cardiopulmonary resuscitation. The specialists and the DS group had results on advanced level questions better than the PD group. Older specialists in anesthesiology did not know how to properly manage pregnancy-related emergencies at the basic level; however, anesthesiologists were familiar with advanced management. No relationship between recalling and using such knowledge in difficult situations was observed. The teaching process of acute obstetric emergencies must be improved through implementation of compulsory nationwide courses and verification of knowledge every few years. Copyright © 2012 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Published by Elsevier España, S.L. All rights reserved.

A tale worth telling: The impact of the diagnosis experience on disclosure of genetic disorders

PubMed Central

Goodwin, Jane; Schoch, Kelly; Shashi, Vandana; Hooper, Stephen R.; Gothelf, Doron; Zalevsky, Moran; Morad, Ola; Campbell, Linda E.

2014-01-01

Background Research suggests children with genetic disorders exhibit greater coping skills when they are aware of their condition and its heritability. While the experiences parents have at diagnosis may influence their decision to disclose the diagnosis to their children, there is little research into this communication. The aim of the current study was to examine the relationship between the diagnosis experience and the disclosure experience for parents of children with intellectual disabilities; with a child affected by 22q11.2 deletion syndrome (22q11DS) compared to a group of parents with children affected with other genetic diagnoses, with a similar age of diagnosis (e.g., Fragile X syndrome) and a group where diagnosis generally occurs early (i.e., Down syndrome). Method The sample comprised 559 parents and caregivers of children with genetic developmental disorders, and an online survey was utilised. Items from the questionnaire were combined to create variables for diagnosis experience, parental disclosure experience, child’s disclosure experience, and parental coping and self-efficacy. Results Across all groups parents reported that the diagnosis experience was negative and often accompanied by lack of support and appropriate information. Sixty-eight percent of those in the 22q11DS and 58.3% in the Similar Conditions groups had disclosed the diagnosis to their child, whereas only 32.7% of the Down syndrome group had. Eighty-six percent of the Down syndrome group felt they had sufficient information to talk to their child compared to 44.1% of the Similar Conditions group and 32.6% of the 22q11DS group. Parents reported disclosing the diagnosis to their child because they did not want to create secrets; and that they considered the child’s age when disclosing. In the 22q11DS and Similar Conditions groups, a poor diagnosis experience was significantly associated with negative parental disclosure experiences. In the Similar Conditions group, a poor diagnosis experience was also significantly associated with a more negative child disclosure experience. Conclusions As expected this study highlights how difficult most parents find the diagnosis experience. Importantly, the data indicates that the personal experiences the parents have can have a long-term impact on how well they cope with telling their child about the diagnosis. It is important for clinicians to consider the long-term ramifications of the diagnosis experience and give the parents opportunities; through, for instance, psychoeducation to prepare for telling their child about the diagnosis. Further research is warranted to explore what type of information would be useful for parents to receive. PMID:25059276

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

PubMed

Monteiro, Fabíola P; Vieira, Társis P; Sgardioli, Ilária C; Molck, Miriam C; Damiano, Ana Paula; Souza, Josiane; Monlleó, Isabella L; Fontes, Marshall I B; Fett-Conte, Agnes C; Félix, Têmis M; Leal, Gabriela F; Ribeiro, Erlane M; Banzato, Claudio E M; Dantas, Clarissa de R; Lopes-Cendes, Iscia; Gil-da-Silva-Lopes, Vera Lúcia

2013-07-01

The 22q11.2 deletion is the most frequent interstitial deletion in humans and presents a wide phenotypic spectrum, with over 180 clinical manifestations described. Distinct studies have detected frequencies of the deletion ranging from 0 % to 75 %, depending on the studied population and selection criteria adopted. Due to the lack of consensus in this matter, several studies have been conducted aiming to define which patients would be eligible for screening; however, the issue is still up for debate. In order to contribute to the delineation of possible clinical and dysmorphologic guidelines to optimize decision making in the clinical setting, 194 individuals with variable features of the 22q11.2 deletion syndromes (22q11.2DS) were evaluated. Group I, clinical suspicion of 22q11.2DS with palatal anomalies; Group II, clinical suspicion without palatal anomalies; Group III, cardiac malformations associated with the 22q11.2DS; and Group IV, juvenile-onset schizophrenia. Multiplex ligation-dependent probe amplification was used for screening the 22q11.2 deletion, which was detected in 45 patients (23.2 %), distributed as such: Group I, 35/101 (34.7 %); Group II, 4/18 (22.2 %); Group III, 6/52 (11.5 %); and Group IV, 0/23 (0 %). Clinical data were analyzed by frequency distribution and statistically. Based on the present results and on the review of the literature, we propose a set of guidelines for screening patients with distinct manifestations of the 22q11.2DS in order to maximize resources. In addition, we report the dysmorphic features which we found to be statistically correlated with the presence of the 22q11.2DS.

Characterization of the Effects of the Shiitake Culinary-Medicinal Mushroom, Lentinus edodes (Agaricomycetes), on Severe Gestational Diabetes Mellitus in Rats.

PubMed

Maschio, Bianca Hessel; Gentil, Bianca Carvalho; Caetano, Erika Leão Ajala; Rodrigues, Lucas Silva; Laurino, Leticia Favara; Spim, Sara Rosicler Vieira; Jozala, Angela Faustino; Dos Santos, Carolina Alves; Grotto, Denise; Gerenutti, Marli

2017-01-01

This study evaluated the protective effect of Lentinus edodes in rats with streptozotocin-induced gestational diabetes mellitus (STZ-GDM) when administered orally. The rats received from the 1st to the 19th day of gestation daily doses of 100 or 200 mg/kg of lyophilized and reconstituted L. edodes; the animals in the saline control group and diabetic control group received a saline solution (DS). Gestational diabetes mellitus was induced by streptozotocin (80 mg/kg, administered intraperitoneally) on the fourth day of pregnancy; blood glucose > 180 mg/dL was considered to indicate STZ-GDM. L. edodes reduced catalase in plasma. We also observed reduced glucose in plasma, urea, triglycerides, and aspartate aminotransferase. There was a decrease in preimplantation loss when compared with the DS group. The doses of L. edodes used here had a protective effect on the preimplantation parameters in STZGDM. However, the mushroom was not able to reverse the deleterious effects caused by streptozotocin throughout the evolution of pregnancy.

Effects of detraining on anthropometry, aerobic capacity and functional ability in adults with Down syndrome.

PubMed

Boer, P H

2018-01-01

Structured exercise has shown to improve parameters of functional fitness in adults with Down syndrome (DS). However, few, if any, continue to exercise after exercise intervention studies. Consequently, the purpose of this study was to determine the effects of detraining on anthropometry, aerobic capacity and functional ability of adults with DS. In a previous study, forty-two participants either performed 12 weeks of interval training, continuous aerobic training or no training (CON). After 3 months of detraining, the same participants were tested again for anthropometry, aerobic capacity, leg strength and functional ability. Significant reductions in maximal aerobic capacity, time to exhaustion and both functional test items were reported for both exercise groups compared to CON (p < .05). No significant differences were reported between the exercise groups concerning aerobic and functional capacity reductions. Detraining occurred significantly in both exercise groups regarding parameters associated with aerobic and functional capacity. © 2017 John Wiley & Sons Ltd.

Three-dimensional volume-rendering technique in the angiographic follow-up of intracranial aneurysms embolized with coils.

PubMed

Zhou, Bing; Li, Ming-Hua; Wang, Wu; Xu, Hao-Wen; Cheng, Yong-De; Wang, Jue

2010-03-01

The authors conducted a study to evaluate the advantages of a 3D volume-rendering technique (VRT) in follow-up digital subtraction (DS) angiography of coil-embolized intracranial aneurysms. One hundred nine patients with 121 intracranial aneurysms underwent endovascular coil embolization and at least 1 follow-up DS angiography session at the authors' institution. Two neuroradiologists independently evaluated the conventional 2D DS angiograms, rotational angiograms, and 3D VRT images obtained at the interventional procedures and DS angiography follow-up. If multiple follow-up sessions were performed, the final follow-up was mainly considered. The authors compared the 3 techniques for their ability to detect aneurysm remnants (including aneurysm neck and sac remnants) and parent artery stenosis based on the angiographic follow-up. The Kruskal-Wallis test was used for group comparisons, and the kappa test was used to measure interobserver agreement. Statistical analyses were performed using commercially available software. There was a high statistical significance among 2D DS angiography, rotational angiography, and 3D VRT results (X(2) = 9.9613, p = 0.0069) when detecting an aneurysm remnant. Further comparisons disclosed a statistical significance between 3D VRT and rotational angiography (X(2) = 4.9754, p = 0.0257); a high statistical significance between 3D VRT and 2D DS angiography (X(2) = 8.9169, p = 0.0028); and no significant difference between rotational angiography and 2D DS angiography (X(2) = 0.5648, p = 0.4523). There was no statistical significance among the 3 techniques when detecting parent artery stenosis (X(2) = 2.5164, p = 0.2842). One case, in which parent artery stenosis was diagnosed by 2D DS angiography and rotational angiography, was excluded by 3D VRT following observations of multiple views. The kappa test showed good agreement between the 2 observers. The 3D VRT is more sensitive in detecting aneurysm remnants than 2D DS angiography and rotational angiography and is helpful for identifying parent artery stenosis. The authors recommend this technique for the angiographic follow-up of patients with coil-embolized aneurysms.

Cognitive Control of Movement in Down Syndrome

ERIC Educational Resources Information Center

Brunamonti, Emiliano; Pani, Pierpaolo; Papazachariadis, Odysseas; Onorati, Paolo; Albertini, Giorgio; Ferraina, Stefano

2011-01-01

Inhibition of inappropriate responses allows to shape the motor behavior accordingly to the context in which a subject acts and is an essential executive function. Inhibition has been poorly investigated in Down Syndrome (DS) patients. We tested, using a countermanding task, the inhibitory control in a group of DS patients and in a group of…

The PhD Conundrum in South African Academia

ERIC Educational Resources Information Center

Breier, Mignonne; Herman, Chaya

2017-01-01

South African universities need more academics with PhDs, from historically disadvantaged population groups in particular, but they face a conundrum. In order to have more staff with PhDs, they need to produce more PhD graduates. But in order to produce more PhD graduates, they need more staff with PhDs to supervise. This article explores this…

Are anti-nucleosome antibodies a better diagnostic marker than anti-dsDNA antibodies for systemic lupus erythematosus? A systematic review and a study of metanalysis.

PubMed

Bizzaro, Nicola; Villalta, Danilo; Giavarina, Davide; Tozzoli, Renato

2012-12-01

Methods to detect anti-nucleosome antibodies (ANuA) have been available for more than 10 years and the test has demonstrated its good sensitivity and high specificity in diagnosing systemic lupus erythematosus (SLE). Despite these data produced through clinical and laboratory research, the test is little used. To verify the diagnostic performance of methods for measuring ANuA and to compare them with those for anti-dsDNA antibodies. A systematic review of English and non-English articles using MEDLINE and EMBASE with the search terms "nucleosome", "chromatin", "anti-nucleosome antibodies" and "anti-chromatin antibodies". Additional studies were identified checking reference lists in the selected articles. We selected studies reporting on anti-nucleosome tests performed by quantitative immunoassays, on patients with SLE as the index disease (sensitivity) and a control group (specificity). A total of 610 titles were initially identified with the search strategy described. 548 publications were subsequently excluded based on abstract and title. Full-text review was undertaken as the next step on 62 publications providing data on anti-nucleosome testing; 25 articles were then excluded because they did not include either SLE patients or a control group, and 37 articles were selected for the metanalysis. Finally, a sub-metanalysis study was conducted on the 26 articles providing data on both ANuA and anti-dsDNA antibody assays in the same series of patients. Extraction of data from selected articles was performed by two authors independently, using predefined criteria: the number of patients with SLE as the index case, and the number of healthy or diseased controls; specification of the analytical method used to detect anti-nucleosome and anti-dsDNA antibodies; the cut-off used in the study; and the sensitivity and specificity of the assay. Demographic and clinical data on the population investigated (adults or children; lupus patients with or without nephritis; patients with active or inactive disease) were also recorded and analyzed in a separate evaluation. The systematic review and metanalysis showed that the overall sensitivity of the ANuA assay is 61% (confidence interval-CI, 60-62) and the specificity 94% (CI, 94-95). The overall positive likelihood ratio is 13.81 (CI, 9.05-21.09) and the negative likelihood ratio 0.38 (CI, 0.33-0.44). The odds ratio for having SLE in ANuA-positive patients is 40.7. The comparative analysis on anti-dsDNA antibodies conducted on the 26 studies which provided data for both antibodies showed that ANuA have greater diagnostic sensitivity (59.9% vs 52.4%) and a specificity rating only slightly higher (94.9% vs 94.2%). The probability that a subject with positive ANuA have SLE is 41 times greater than a subject with negative ANuA, while for anti-dsDNA the probability is 28 times greater. These figures are even more impressive in children, in whom ANuA have an odds ratio for the diagnosis of SLE of 146, compared to 51 for anti-dsDNA antibodies. In selected studies, ANuA (p<0.0001) but not anti-dsDNA antibodies (p=0.256) were significantly associated with disease activity measured by the international score systems. However, neither antibody appears to correlate with kidney involvement. Data from the metanalysis have shown that ANuA have equal specificity but higher sensitivity and prognostic value than anti-dsDNA antibodies in the diagnosis of SLE. Despite a certain heterogeneity among the various studies, the use of ANuA appears more efficacious than anti-dsDNA. Copyright © 2012 Elsevier B.V. All rights reserved.

Disk suspension method: a novel and safe technique for the retraction of the liver during laparoscopic surgery (with video).

PubMed

Shibao, Kazunori; Higure, Aiichiro; Yamaguchi, Koji

2011-08-01

A good operative field is important for safe operations, but it is sometimes difficult to obtain a satisfactory operative field in laparoscopic upper abdominal surgery. We developed a novel and safe technique for the retraction of the liver and falciform ligament during laparoscopic surgery, and evaluated its technical feasibility and safety. Forty-three patients with gastric cancer were divided into two groups: disk suspension group (DS group; snake retractor and elastic band fixation with a silicon disk), and fixed retractor group (FR group; snake retractor and nonelastic band fixation without a silicon disk). To evaluate liver damage during retraction, we measured the aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels preoperatively and on postoperative day (POD) 1. In the DS group, all liver lobes were adequately retracted and the hepatoduodenal and gastrohepatic ligaments were fully exposed. This procedure took less than 3 min. On the other hand, 5 of 18 patients of the FR group had insufficient surgical fields for laparoscopic gastrectomy because of soft and/or large livers. Although the preoperative AST and ALT levels were not different between the two groups, the DS group did not display increases in both AST and ALT levels, whereas the FR group showed increases in both on POD 1 (AST: 50.2 ± 8.4 IU/l vs. 124.2 ± 37.7 IU/l, P = 0.07; and ALT: 35.6 ± 6.4 IU/l vs. 106.1 ± 36.2 IU/l, P = 0.07). No complications related to the liver retraction were observed in the DS group. However, liver congestion was evident in six patients and minor liver injury in two patients of the FR group during the esophagojejunostomy. The DS method is a simple and safe and provides a better surgical field during laparoscopic surgery of the upper abdomen without damaging the liver.

Influence of education level and experience on detection of approximal caries in digital dental radiographs. An in vitro study.

PubMed

Hellén-Halme, Kristina; Petersson, Gunnel Hänsel

2010-01-01

This study evaluated whether variations in education level and experience among dental staff influence the diagnostic accuracy of carious lesions on digital radiographs. Three student groups and a fourth group of general practitioners (Dentists) with more than five years of clinical experience participated in this study.The student groups were (i) dental students in their final (tenth) semester (DS-10), (ii) dental students in the sixth semester (DS-6) who just finished dental radiology training, and (iii) dental hygiene students (DHS) in their final (fourth) semester. Seven observers from each group participated. Standard radiographs of 100 extracted teeth (premolars and molars) were taken. The 28 observers evaluated the images for approximal carious lesions on a standard monitor. All evaluations were made in ambient light below 50 lux. Receiver operating characteristic curves were plotted to assess results. The standard criterion for healthy or carious lesions was a histological examination of sliced teeth. Kappa statistics evaluated intra-observer agreement. For carious lesions that had extended into the dentine, significant differences were found between (i) Dentists and all other groups, (ii) Dentists and DS-10 (p < 0.01), and (iii) Dentists and DS-6 and DHS (p < 0.001). Differences between DS-10 and DHS (p < or = 0.05) were also significant. In this study, education level and experience clearly influenced the diagnostic accuracy of approximal carious lesions that had extended into the dentine on digital radiographs.

Depression Symptoms Among Homeless Smokers: Effect of Motivational Interviewing.

PubMed

Robinson, Cendrine D; Rogers, Charles R; Okuyemi, Kolawole S

2016-08-23

Tobacco use is higher among homeless individuals than the general population. Homeless individuals are also more likely to have symptoms of depression. Depression symptoms may add to the burden of homelessness by increasing psychological distress and serve as a barrier to quitting smoking. The primary goal of this study is to assess the impact of depression symptoms on psychological distress in homeless smokers. The effect of depression symptoms on abstinence and the effect of Motivational Interviewing (MI) on cessation among smokers is also explored. Homeless smokers (N = 430) enrolled in a smoking cessation study were randomized to Motivational Interviewing (MI) or standard care (SC). Participants received nicotine replacement therapy and were followed for 26 weeks. Participants were categorized into a depression symptoms (DS) group or control group using the Patient Health Questionnaire-9. Between group differences of perceived stress, hopelessness, confidence, craving and abstinence were assessed at weeks 8 and 26. The interaction between depression symptoms (levels: DS and control) and the intervention (levels: MI and SC) was also assessed. Homeless smokers in the DS group reported higher levels of hopelessness, perceived stress, and craving. There was no effect of DS status on abstinence at week 8 or week 26. There was no significant interaction between depression symptoms (DS vs. Control) and the intervention (MI vs. SC). Despite reporting greater psychological distress, homeless smokers with depression symptoms in this sample had abstinence levels similar to the control group. Future research should explore protective factors among depressed smokers.

A new technique to make transparent teeth without decalcifying: description of the methodology and micro-hardness assessment.

PubMed

Malentacca, Augusto; Lajolo, Carlo

2015-01-01

Diaphanisation and other in vitro endodontic models (i.e., plastic blocks, micro-CT reconstruction, computerised models) do not recreate real root canal working conditions: a more realistic endodontic model is essential for testing endodontic devices and teaching purposes. The aim of this study was to describe a new technique to construct transparent teeth without decalcifying and evaluate the micro-hardness of so treated teeth. Thirty freshly extracted teeth were randomly divided into three groups as follows: 10 non-treated teeth (4 molars, 3 premolars, 3 incisors; control group - G1), 10 teeth were diaphanised (4 molars, 4 premolars, 2 incisors - G2) and 10 teeth were treated with the new proposed technique (2 molars, 6 premolars, 2 incisors - G3). Vickers hardness tester (MHT-4 and AxioVision microscope, Carl Zeiss, 37030 Gottingen, Germany - load=50 g, dwell time=20s, slope=5, 50× magnification) was used to determine microhardness (Vickers Hardness Number - VHN). Statistical analysis was performed using the Intercooled Stata 8.0 software (Stata Corporation, College Station, TX, USA). Only groups 1 and 3 could be tested for hardness because diaphanised teeth were too tender and elastic. Differences in enamel VHN were observed between G1 (mean 304.29; DS=10.44; range 283-321) and G3 (mean 318.51; DS=14.36; range 295.5-339.2) - (p<0.05); differences in dentine VHN were observed between G1 (mean 74.73; DS=6.62; range 63.9-88.1) and G3 (mean 64.54; DS=5.55; range 51.2-72.3) - (p<0.05). G3 teeth presented a slightly lower VHN compared to G1, probably due to some little structural differences among groups, and were dramatically harder than the diaphanised teeth. The described technique, thus, can be considered ideal for testing endodontic instruments and for teaching purposes. Copyright © 2014 Elsevier GmbH. All rights reserved.

Glycogen Phosphorylase and Glycogen Synthase: Gene Cloning and Expression Analysis Reveal Their Role in Trehalose Metabolism in the Brown Planthopper, Nilaparvata lugens Stål (Hemiptera: Delphacidae)

PubMed Central

Zhang, Lu; Wang, Huijuan; Chen, Jianyi; Shen, Qida; Wang, Shigui; Xu, Hongxing

2017-01-01

RNA interference has been used to study insects’ gene function and regulation. Glycogen synthase (GS) and glycogen phosphorylase (GP) are two key enzymes in carbohydrates’ conversion in insects. Glycogen content and GP and GS gene expression in several tissues and developmental stages of the Brown planthopper Nilaparvata lugens Stål (Hemiptera: Delphacidae) were analyzed in the present study, using quantitative reverse-transcription polymerase chain reaction to determine their response to double-stranded trehalases (dsTREs), trehalose-6-phosphate synthases (dsTPSs), and validamycin injection. The highest expression of both genes was detected in the wing bud, followed by leg and head tissues, and different expression patterns were shown across the developmental stages analyzed. Glycogen content significantly decreased 48 and 72 h after dsTPSs injection and 48 h after dsTREs injection. GP expression increased 48 h after dsTREs and dsTPSs injection and significantly decreased 72 h after dsTPSs, dsTRE1-1, and dsTRE1-2 injection. GS expression significantly decreased 48 h after dsTPS2 and dsTRE2 injection and 72 h after dsTRE1-1 and dsTRE1-2 injection. GP and GS expression and glycogen content significantly decreased 48 h after validamycin injection. The GP activity significantly decreased 48 h after validamycin injection, while GS activities of dsTPS1 and dsTRE2 injection groups were significantly higher than that of double-stranded GFP (dsGFP) 48 h after injection, respectively. Thus, glycogen is synthesized, released, and degraded across several insect tissues according to the need to maintain stable trehalose levels. PMID:28365765

The perception of friendship in adults with Down syndrome.

PubMed

Watt, K J; Johnson, P; Virji-Babul, N

2010-11-01

Measuring the perception of friendship in adults with Down syndrome (DS) has long been a research challenge. While there have been studies investigating the number of friends children with DS have in, the study of how adults with DS view the concept of friendship has been relatively unexplored. The aim of this study was to evaluate the perception of friendship in adults with DS using a visually based scale. Sixty-six individuals participated in this study: 22 adults with DS, 22 typical mental age (MA) matched children and 22 typical adults matched for chronological age (CA). We administered a visually based Friendship scale made up of photographs depicting social interactions between individuals or groups. The scale was composed of two parts. In Part 1 participants were shown two photographs and asked to select the photograph that best depicted friends. In Part 2 participants were asked to view one photograph and asked, 'Is it okay for friends to do this?' Adults with DS scored lower on the Friendship scale in comparison with the CA and MA matched groups. Adults with DS made more errors in identifying 'friends' from 'non-friends' but were equally able to distinguish friendly behaviours and actions from non-friendly behaviours as their CA and MA matched peers. Individuals with DS were more likely to incorrectly identify photographs depicting a teacher, or a mother with a child as friends. Actions or behaviours that depicted subtle negative emotions were also incorrectly identified. These results are an important first step in understanding the perception of friendship and social behaviours related to friendship in adults with DS. © 2010 The Authors. Journal of Intellectual Disability Research © 2010 Blackwell Publishing Ltd.

Proline and COMT Status Affect Visual Connectivity in Children with 22q11.2 Deletion Syndrome

PubMed Central

Magnée, Maurice J. C. M.; Lamme, Victor A. F.; de Sain-van der Velden, Monique G. M.; Vorstman, Jacob A. S.; Kemner, Chantal

2011-01-01

Background Individuals with the 22q11.2 deletion syndrome (22q11DS) are at increased risk for schizophrenia and Autism Spectrum Disorders (ASDs). Given the prevalence of visual processing deficits in these three disorders, a causal relationship between genes in the deleted region of chromosome 22 and visual processing is likely. Therefore, 22q11DS may represent a unique model to understand the neurobiology of visual processing deficits related with ASD and psychosis. Methodology We measured Event-Related Potentials (ERPs) during a texture segregation task in 58 children with 22q11DS and 100 age-matched controls. The C1 component was used to index afferent activity of visual cortex area V1; the texture negativity wave provided a measure for the integrity of recurrent connections in the visual cortical system. COMT genotype and plasma proline levels were assessed in 22q11DS individuals. Principal Findings Children with 22q11DS showed enhanced feedforward activity starting from 70 ms after visual presentation. ERP activity related to visual feedback activity was reduced in the 22q11DS group, which was seen as less texture negativity around 150 ms post presentation. Within the 22q11DS group we further demonstrated an association between high plasma proline levels and aberrant feedback/feedforward ratios, which was moderated by the COMT 158 genotype. Conclusions These findings confirm the presence of early visual processing deficits in 22q11DS. We discuss these in terms of dysfunctional synaptic plasticity in early visual processing areas, possibly associated with deviant dopaminergic and glutamatergic transmission. As such, our findings may serve as a promising biomarker related to the development of schizophrenia among 22q11DS individuals. PMID:21998713

Acute lymphoblastic leukemia in children with Down syndrome: a retrospective analysis from the Ponte di Legno study group

PubMed Central

Buitenkamp, Trudy D.; Izraeli, Shai; Zimmermann, Martin; Forestier, Erik; Heerema, Nyla A.; van den Heuvel-Eibrink, Marry M.; Pieters, Rob; Korbijn, Carin M.; Silverman, Lewis B.; Schmiegelow, Kjeld; Liang, Der-Cheng; Horibe, Keizo; Arico, Maurizio; Biondi, Andrea; Basso, Giuseppe; Rabin, Karin R.; Schrappe, Martin; Cario, Gunnar; Mann, Georg; Morak, Maria; Panzer-Grümayer, Renate; Mondelaers, Veerle; Lammens, Tim; Cavé, Hélène; Stark, Batia; Ganmore, Ithamar; Moorman, Anthony V.; Vora, Ajay; Hunger, Stephen P.; Pui, Ching-Hon; Mullighan, Charles G.; Manabe, Atsushi; Escherich, Gabriele; Kowalczyk, Jerzy R.; Whitlock, James A.

2014-01-01

Children with Down syndrome (DS) have an increased risk of B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). The prognostic factors and outcome of DS-ALL patients treated in contemporary protocols are uncertain. We studied 653 DS-ALL patients enrolled in 16 international trials from 1995 to 2004. Non-DS BCP-ALL patients from the Dutch Child Oncology Group and Berlin-Frankfurt-Münster were reference cohorts. DS-ALL patients had a higher 8-year cumulative incidence of relapse (26% ± 2% vs 15% ± 1%, P < .001) and 2-year treatment-related mortality (TRM) (7% ± 1% vs 2.0% ± <1%, P < .0001) than non-DS patients, resulting in lower 8-year event-free survival (EFS) (64% ± 2% vs 81% ± 2%, P < .0001) and overall survival (74% ± 2% vs 89% ± 1%, P < .0001). Independent favorable prognostic factors include age <6 years (hazard ratio [HR] = 0.58, P = .002), white blood cell (WBC) count <10 × 109/L (HR = 0.60, P = .005), and ETV6-RUNX1 (HR = 0.14, P = .006) for EFS and age (HR = 0.48, P < .001), ETV6-RUNX1 (HR = 0.1, P = .016) and high hyperdiploidy (HeH) (HR = 0.29, P = .04) for relapse-free survival. TRM was the major cause of death in ETV6-RUNX1 and HeH DS-ALLs. Thus, while relapse is the main contributor to poorer survival in DS-ALL, infection-associated TRM was increased in all protocol elements, unrelated to treatment phase or regimen. Future strategies to improve outcome in DS-ALL should include improved supportive care throughout therapy and reduction of therapy in newly identified good-prognosis subgroups. PMID:24222333

Comparison of keypads and touch-screen mobile phones/devices as potential risk for microbial contamination.

PubMed

Koroglu, Mehmet; Gunal, Selami; Yildiz, Fatma; Savas, Mehtap; Ozer, Ali; Altindis, Mustafa

2015-12-30

Touch-screen mobile phones/devices (TMPs/Ds) are increasingly used in hospitals. They may act as a mobile reservoir for microbial pathogens. The rates of microbial contamination of TMPs/Ds and keypad mobile phones (KMPs) with respect to different variables including use by healthcare workers (HCWs)/non-HCWs and the demographic characteristics of users were investigated. A total of 205 mobile phones/devices were screened for microbial contamination: 76 devices belonged to HCWs and 129 devices belonged to the non-HCW group. By rubbing swabs to front screen, back, keypad, and metallic surfaces of devices, 444 samples were collected. Of 205 mobile phones/devices, 143 (97.9%) of the TMPs/Ds and 58 (98.3%) of the KMPs were positive for microbial contamination, and there were no significant differences in contamination rates between these groups, although TMPs/Ds had significantly higher microbial load than KMPs (p <0.05). The significant difference in this analysis was attributable to the screen size of mobile phones ≥ 5". Microbial contamination rates increased significantly as phone size increased (p <0.05). Higher numbers of coagulase-negative Staphylococci (CNS) were isolated from KMPs than TMPs/Ds (p = 0.049). The incidence of Enterococcus spp. was higher on the KMPs of HCWs, and methicillin resistant CNS was higher from the TMPs/Ds of non-HCWs (p <0.05). Isolation of CNS, Streptococcus spp. and Escherichia coli was higher from the TMPs/Ds of HCWs (p <0.05). We found no significant difference between TMP/Ds and KMPs in terms of microbial contamination, but TMP/Ds harboured more colonies and total microbial counts increased with screen size.

Down syndrome as risk factor for respiratory syncytial virus hospitalization: A prospective multicenter epidemiological study.

PubMed

Sánchez-Luna, Manuel; Medrano, Constancio; Lirio, Julián

2017-03-01

Respiratory syncytial virus (RSV) infection in childhood, particularly in premature infants, is associated with significant morbidity and mortality. To compare the hospitalization rates due to RSV infection and severity of disease between infants with and without Down syndrome (DS) born at term and without other associated risk factors for severe RSV infection. In a prospective multicentre epidemiological study, 93 infants were included in the DS cohort and 68 matched by sex and data of birth (±1 week) and were followed up to 1 year of age and during a complete RSV season. The hospitalization rate for all acute respiratory infection was significantly higher in the DS cohort than in the non-DS cohort (44.1% vs 7.7%, P<.0001). Hospitalizations due to RSV were significantly more frequent in the DH cohort than in the non-DS cohort (9.7% vs 1.5%, P=.03). RSV prophylaxis was recorded in 33 (35.5%) infants with DS. The rate of hospitalization according to presence or absence of RSV immunoprophylaxis was 3.0% vs 15%, respectively. Infants with DS showed a higher rate of hospitalization due to acute lower respiratory tract infection and RSV infection compared to non-DS infants. Including DS infants in recommendations for immunoprophylaxis of RSV disease should be considered. © 2016 The Authors. Influenza and Other Respiratory Viruses Published by John Wiley & Sons Ltd.

Does the index-to-ring finger length ratio (2D:4D) differ in amyotrophic lateral sclerosis (ALS)? Results from an international online case-control study.

PubMed

Parkin Kullmann, Jane Alana; Pamphlett, Roger

2017-08-07

The ratio of the length of the index finger (2D) to the ring finger (4D) (2D:4D) has been reported to be lower (ie, 2D<4D) in people with amyotrophic lateral sclerosis (ALS) than non-ALS controls. This has led to suggestions that exposure to increased prenatal testosterone, which also lowers this ratio, could be a risk factor for ALS. In an attempt to test this hypothesis, we examined 2D:4Ds from large numbers of patients with ALS and controls. An online multilingual questionnaire enabling respondents to measure their own index and ring finger lengths. Of the initial 949 respondents, 572 remained for analysis after elimination for inability to straighten fingers, not answering the question, statistical outliers and aged <40 years. Respondents remaining for analysis were 202 patients with ALS (125 males, 77 females) and 370 non-ALS controls (112 males, 258 females). Unpaired t-tests with 95% CIs were used to assess differences in mean 2D:4Ds. Males had significantly lower mean 2D:4Ds than females, in both ALS and control groups, for both left and right hands. No significant differences were found in 2D:4Ds between ALS and control groups, in either males or females, for either left or right hands. Receiver operating characteristic curves showed no power for 2D:4Ds to predict ALS status in either males or females. 2D:4Ds did not differ between patients with ALS and controls in this study. This was despite the dataset being large enough to confirm the established finding of lower 2D:4Ds in males compared with females. These findings do not support the hypothesis that exposure to increased prenatal testosterone is a risk factor for ALS. A putative lower 2D:4D has been proposed to explain the link between ALS and exercise, but our results indicate that other exercise-related factors are more likely to explain this association. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Multifunctional benefits of SuDS: techno-economic evaluation of decentralised solutions for urban water management

NASA Astrophysics Data System (ADS)

Mijic, Ana; Ossa-Moreno, Juan; Smith, Karl M.

2016-04-01

The increased frequency of extreme weather events associated with climate change poses a significant threat to the integrity and function of critical urban infrastructure - rail, road, telecommunications, power and water supply/sewerage networks. A key threat within the United Kingdom (UK) is the increased risk of pluvial flooding; the conventional approach of channeling runoff to an outfall has proven to be unsustainable during severe storm events. Green infrastructure, in the form of Sustainable Urban Drainage Systems (SuDS), has been proposed as a means of minimising the risk of pluvial flooding. However, despite their technical performance, SuDS uptake in the UK has not reached its full capacity yet, mostly due to reasons that go beyong the engineering realm. This work investigated the strategic role of SuDS retrofit in managing environmental risks to urban infrastructure in London at a catchment level, through an economic appraisal of multifunctional benefits. It was found that by including the multifunctional benefits of SuDS, the economic feasibility of the project improves considerably. The case study has also shown a mechanism towards achieving wider-scale SuDS retrofit, whereby the investments are split amongst multiple stakeholder groups by highlighting the additional benefits each group derives. Groups include water utilities and their users, local government and critical infrastructure owners. Finally, limitations to the existing cost-benefit methdology in the UK were identified, and recommendations made regarding incentives and governmental regulations to enhance the uptake of SuDS in London. The proposed methodology provides compelling and robust, cost-benefit based evidence of SUDS' effectiveness within the flood risk management planning framework, but also with regard to the additional benefits of Nature Based Solutions in urban environments.

Dental attendance patterns among older people: a retrospective review of records in public and private dental care in Sweden.

PubMed

Derblom, C; Hagman-Gustafsson, M-L; Gabre, P

2017-11-01

Nowadays, older people retain their natural teeth more frequently and so are at increased risk of oral disease. At the same time, discontinued contacts with dental services prevent access to preventive care and increase the risk of undetected disease. This study aims to evaluate how often older people discontinue regular dental visits and to establish the reasons. This study is a retrospective review of records of patients aged ≥75 years from seven Swedish clinics, three in the public dental service (PuDS) and four in the private (PrDS). All patients were examined in 2010, and their dental attendance records from 2010 to 2014 studied. Data included gender, dental insurance system, last performed planned examination, emergency visits, registrations in the recall system, cause of discontinued care and number of teeth and implants. In total, 993 records were studied, 303 in PuDS and 690 in PrDS. In both groups, 10% of patients had no complete dental examinations between 2010 and 2014 after baseline examination in 2010. One-quarter were not registered in the recall system after their last examinations, and this was more common in PrDS than PuDS. In many cases, no reason for discontinued regular visits were described in the records. The mean number of natural teeth was 19.0 in both groups, but there were more implants in the PrDS group. A large proportion of the participants risked losing regular contact with dental services. Dental services appeared to lack strategies for maintaining regular dental care for elderly patients. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Relationship between CHA2DS2-VASc score, coronary artery disease severity, residual platelet reactivity and long-term clinical outcomes in patients with acute coronary syndrome.

PubMed

Scudiero, Fernando; Zocchi, Chiara; De Vito, Elena; Tarantini, Giuseppe; Marcucci, Rossella; Valenti, Renato; Migliorini, Angela; Antoniucci, David; Marchionni, Niccolò; Parodi, Guido

2018-07-01

The CHA 2 DS 2 -VASc score predicts stroke risk in patients with atrial fibrillation, but recently has been reported to have a prognostic role even in patients with ACS. We sought to assess the ability of the CHA 2 DS 2 -VASc score to predict the severity of coronary artery disease, high residual platelet reactivity and long-term outcomes in patients with acute coronary syndrome (ACS). Overall, 1729 consecutive patients with ACS undergoing invasive management were included in this prospective registry. We assessed platelet reactivity via light transmittance aggregometry after clopidogrel loading. Patients were divided according to the CHA 2 DS 2 -VASc score: group A = 0, B = 1, C = 2, D = 3, E = 4 and F ≥ 5. Patients with higher CHA 2 DS 2 -VASc score were more likely to have a higher rate of multivessel CAD (37%, 47%, 55%, 62%, 67 and 75% in Group A, B, C, D, E and F; p < 0.001); moreover, CHA 2 DS 2 -VASc score correlated linearly with residual platelet reactivity (R = 0.77; p < 0.001). At long-term follow-up, estimated adverse event rates (MACCE: cardiac death, MI, stroke or any urgent coronary revascularization) were 3%, 8%, 10%, 14%, 19% and 24% in group A, B, C, D, E and F; p < 0.001. Multivariable analysis demonstrated CHA 2 DS 2 -VASc to be an independent predictor of severity of coronary artery disease, of high residual platelet reactivity and of MACCE. In a cohort of patients with ACS, CHA 2 DS 2 -VASc score correlated with coronary disease severity and residual platelet reactivity, and therefore it predicted the risk of long-term adverse events. Copyright © 2018 Elsevier B.V. All rights reserved.

Development of a 22q11DS psycho-educational programme: exploration of the views, concerns and educational needs of parents caring for children or adolescents with 22q11DS in relation to mental health issues.

PubMed

Alugo, T; Malone, H; Sheehan, A; Coyne, I; Lawlor, A; McNicholas, F

2017-07-01

22q11.2 deletion syndrome (22q11DS) is a multisystem genetic condition with a broad phenotype. It is associated with a high prevalence of depression and anxiety during childhood and increased risk of schizophrenia in adulthood. Despite this, studies report that families may receive inadequate information of mental health (MH) risks at diagnosis. Therefore, this study investigated parents' experiences of caring for a child with 22q11DS, investigated their knowledge regarding the risk of MH problems and assessed the need for a psycho-educational programme. A qualitative design and purposeful sampling was utilized. Parents registered with the '22q11 Ireland' support group, and parents listed on the cleft palate database in a children's hospital in Ireland were invited to participate. Focus groups were held with 22 parents. Data were thematically analysed using Burnard's method of analysis. Most parents had some knowledge of the relationship between 22q11DS and an increased risk of MH issues. Parents reported that MH information relating to 22q11DS was mainly obtained from 22q11DS conferences, the '22q11 Ireland' support group and the Internet. Parents expressed a need for information to prevent or cope with their child's MH issues. Parents suggested that the following topics would be quite useful in a psycho-educational programme. These included information on the early warning signs of MH issues and guidance on when and how to tell the child about the condition and how to manage the child or young person's anxiety, obsessive behaviour or hearing voices. The findings indicated parental support for a psycho-educational programme that would provide relevant, accurate and timely information on how to effectively care for a child with 22q11DS MH needs. © 2017 John Wiley & Sons Ltd.

Cortical Dysconnectivity Measured by Structural Covariance Is Associated With the Presence of Psychotic Symptoms in 22q11.2 Deletion Syndrome.

PubMed

Sandini, Corrado; Scariati, Elisa; Padula, Maria Carmela; Schneider, Maude; Schaer, Marie; Van De Ville, Dimitri; Eliez, Stephan

2018-05-01

22q11.2 deletion syndrome (22q11DS) is the third-largest known genetic risk factor for the development of psychosis. Dysconnectivity has consistently been implicated in the physiopathology of psychosis. Structural covariance of cortical morphology is a method of exploring connectivity among brain regions that to date has not been employed in 22q11DS. In the present study we employed structural covariance of cortical thickness to explore connectivity alterations in a group of 108 patients with 22q11DS compared with 96 control subjects. We subsequently divided patients into two subgroups of 31 subjects each according to the presence of attenuated psychotic symptoms. FreeSurfer software was used to obtain the mean cortical thickness in 148 brain regions from T1-weighted 3T images. For each population we reconstructed a brain graph using Pearson correlation between the average thickness of each couple of brain regions, which we characterized in terms of mean correlation strength and in terms of network architecture using graph theory. Patients with 22q11DS presented increased mean correlation strength, but there was no difference in global architecture compared with control subjects. However, symptomatic patients presented increased mean correlation strength coupled with increased segregation and decreased integration compared with both control subjects and nonsymptomatic patients. They also presented increased centrality for a cluster of anterior cingulate and dorsomedial prefrontal regions. These results confirm the importance of cortical dysconnectivity in the physiopathology of psychosis. Moreover they support the significance of aberrant anterior cingulate connectivity. Copyright © 2017 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Neural mechanisms of response inhibition and impulsivity in 22q11.2 deletion carriers and idiopathic attention deficit hyperactivity disorder.

PubMed

Montojo, C A; Congdon, E; Hwang, L; Jalbrzikowski, M; Kushan, L; Vesagas, T K; Jonas, R K; Ventura, J; Bilder, R M; Bearden, C E

2015-01-01

•22q11DS offers a compelling model to understand the neural substrates of attentional dysfunction.•First study directly comparing neural function in 22q11DS vs. ADHD patients•22q11DS and ADHD patients show a shared deficit in RI-related activation.•ADHD patients showed greater activity in the middle frontal gyrus than 22q11DS during RI.•Neural activity is inversely correlated with self-reported Cognitive Impulsivity in 22q11DS.

KiDS-i-800: comparing weak gravitational lensing measurements from same-sky surveys

NASA Astrophysics Data System (ADS)

Amon, A.; Heymans, C.; Klaes, D.; Erben, T.; Blake, C.; Hildebrandt, H.; Hoekstra, H.; Kuijken, K.; Miller, L.; Morrison, C. B.; Choi, A.; de Jong, J. T. A.; Glazebrook, K.; Irisarri, N.; Joachimi, B.; Joudaki, S.; Kannawadi, A.; Lidman, C.; Napolitano, N.; Parkinson, D.; Schneider, P.; van Uitert, E.; Viola, M.; Wolf, C.

2018-07-01

We present a weak gravitational lensing analysis of 815 deg2 of i-band imaging from the Kilo-Degree Survey (KiDS-i-800). In contrast to the deep r-band observations, which take priority during excellent seeing conditions and form the primary KiDS data set (KiDS-r-450), the complementary yet shallower KiDS-i-800 spans a wide range of observing conditions. The overlapping KiDS-i-800 and KiDS-r-450 imaging therefore provides a unique opportunity to assess the robustness of weak lensing measurements. In our analysis we introduce two new `null' tests. The `nulled' two-point shear correlation function uses a matched catalogue to show that the calibrated KiDS-i-800 and KiDS-r-450 shear measurements agree at the level of 1 ± 4 per cent. We use five galaxy lens samples to determine a `nulled' galaxy-galaxy lensing signal from the full KiDS-i-800 and KiDS-r-450 surveys and find that the measurements agree to 7 ± 5 per cent when the KiDS-i-800 source redshift distribution is calibrated using either spectroscopic redshifts, or the 30-band photometric redshifts from the COSMOS survey.

KiDS-i-800: Comparing weak gravitational lensing measurements from same-sky surveys

NASA Astrophysics Data System (ADS)

Amon, A.; Heymans, C.; Klaes, D.; Erben, T.; Blake, C.; Hildebrandt, H.; Hoekstra, H.; Kuijken, K.; Miller, L.; Morrison, C. B.; Choi, A.; de Jong, J. T. A.; Glazebrook, K.; Irisarri, N.; Joachimi, B.; Joudaki, S.; Kannawadi, A.; Lidman, C.; Napolitano, N.; Parkinson, D.; Schneider, P.; van Uitert, E.; Viola, M.; Wolf, C.

2018-04-01

We present a weak gravitational lensing analysis of 815deg2 of i-band imaging from the Kilo-Degree Survey (KiDS-i-800). In contrast to the deep r-band observations, which take priority during excellent seeing conditions and form the primary KiDS dataset (KiDS-r-450), the complementary yet shallower KiDS-i-800 spans a wide range of observing conditions. The overlapping KiDS-i-800 and KiDS-r-450 imaging therefore provides a unique opportunity to assess the robustness of weak lensing measurements. In our analysis we introduce two new `null' tests. The `nulled' two-point shear correlation function uses a matched catalogue to show that the calibrated KiDS-i-800 and KiDS-r-450 shear measurements agree at the level of 1 ± 4%. We use five galaxy lens samples to determine a `nulled' galaxy-galaxy lensing signal from the full KiDS-i-800 and KiDS-r-450 surveys and find that the measurements agree to 7 ± 5% when the KiDS-i-800 source redshift distribution is calibrated using either spectroscopic redshifts, or the 30-band photometric redshifts from the COSMOS survey.

Postural Control in Children, Teenagers and Adults with Down Syndrome

ERIC Educational Resources Information Center

Rigoldi, Chiara; Galli, Manuela; Mainardi, Luca; Crivellini, Marcello; Albertini, Giorgio

2011-01-01

The goal of this work was to analyze postural control in Down syndrome (DS) participants considering three different groups composed by children, teenagers and adults with DS. An analysis of the centre of pressure (COP) displacement during standing position was therefore performed for the three groups of subjects. The obtained signal of COP was…

The Effects of Green Cards on the Wages and Innovations of New PhDs

ERIC Educational Resources Information Center

Lan, Xiaohuan

2013-01-01

Visa policies in the United States restrict job opportunities and job mobility for U.S.-trained PhDs who hold a temporary visa, a group that accounts for 40 percent of newly graduated PhDs in science and engineering. The Chinese Student Protection Act of 1992 (CSPA) allowed Chinese students to be eligible for permanent residence in the United…

The effect of Chinese herbs and its effective components on coronary heart disease through PPARs-PGC1α pathway.

PubMed

Wang, Qiyan; Li, Chun; Zhang, Qian; Wang, Yuanyuan; Shi, Tianjiao; Lu, Linghui; Zhang, Yi; Wang, Yong; Wang, Wei

2016-12-12

DanQi pill (DQP) is prescribed widely in China and has definite cardioprotective effect on coronary heart disease. Our previous studies proved that DQP could effectively regulate plasma levels of high density lipoprotein (HDL) and low density lipoprotein (LDL). However, the regulatory mechanisms of DQP and its major components Salvianolic acids and Panax notoginseng saponins (DS) on lipid metabolism disorders haven't been comprehensively studied so far. Rat model of coronary heart disease was induced by left anterior descending (LAD) artery ligation operations. Rats were divided into sham, model, DQP treated, DS treated and positive drug (clofibrate) treated groups. At 28 days after surgery, cardiac functions were assessed by echocardiography. Expressions of transcription factors and key molecules in energy metabolism pathway were measured by reverse transcriptase polymerase chain reaction or western blotting. In ischemic heart model, cardiac functions were severely injured but improved by treatments of DQP and DS. Expression of LPL was down-regulated in model group. Both DQP and DS could up-regulate the mRNA expression of LPL. Membrane proteins involved in lipid transport and uptake, such as FABP4 and CPT-1A, were down-regulated in ischemic heart tissues. Treatment with DQP and DS regulated lipid metabolisms by up-regulating expressions of FABP4 and CPT-1A. DQP and DS also suppressed expression of cytochrome P450. Furthermore, transcriptional factors, such as PPARα, PPARγ, RXRA and PGC-1α, were down-regulated in ischemic model group. DQP and DS could up-regulate expressions of these factors. However, DS showed a better efficacy than DQP on PGC-1α, a coactivator of PPARs. Key molecules in signaling pathways such as AKT1/2, ERK and PI3K were also regulated by DQP and DS simultaneously. Salvianolic acids and Panax notoginseng are the major effective components of DanQi pill in improving lipid metabolism in ischemic heart model. The effects may be mediated by regulating transcriptional factors such as PPARs, RXRA and PGC-1α.

Attainment of gross motor milestones in children with Down syndrome in Kosovo - developmental perspective.

PubMed

Beqaj, Samire; Jusaj, Njomza; Živković, Vujica

2017-08-01

Aim To investigate the age (in months) at which motor skills are developed in children with Down syndrome (DS), and compare it to the age of the development of the same skills in both, children with typical development (TD), and children with DS reported by four other studies. Methods Sixteen children (7 girls and 9 boys) were monthly assessed for the development of nineteen motor skills between 2008 and 2011. The mean ages when the skills were accomplished were presented using descriptive statistics. Independent T-samples test (significance < 0.05) was used to compare the mean developmental ages from our study with those seen in children with TD (Comparison 1) and also in children with DS reported by four other authors (Comparison 2a-2d). Results Children with DS developed at a significantly slower pace compared to children with TD (p=0.005). Generally, delay and variance of developmental age in children with DS increased chronologically with the complexity of the skills. No significant difference was found between developmental age in children from the present study and children with DS from other studies. Conclusion The rate of attainment of motor skills is delayed in children with DS in comparison to children with TD, however, the developmental sequence is the same. The delayed development is more prominent in more complex skills. Copyright© by the Medical Assotiation of Zenica-Doboj Canton.

The distribution of the indicator height for age of Mexican children and adolescents with Down syndrome according to different reference standards.

PubMed

Peña Rivera, Adriana Graciela; Vásquez Garibay, Edgar Manuel; Troyo Sanromán, Rogelio; Romero Velarde, Enrique; Caro Sabido, Erika; Ramírez Díaz, Joanie

2015-06-01

To compare the indicator height for age in Mexican children with Down Syndrome (DS) with two different reference patterns of growth (American and Spanish) that might be suitable for the Mexican population. A cross-sectional study was performed including 235 Mexican children and adolescents of both sexes with DS aged 45 days to 16 years enrolled in two specialized schools in the metropolitan area of Guadalajara. The dependent variables were weight/age; height/age; weight/ height and BMI. The data expressed was percentiles and the chi-square test was used to compare the distribution of the height/age index with American and Spanish reference patterns. In addition, a chi-square test was performed for the goodness of fit of the height/age index, with breakpoints lower and greater than the 50th percentile. The percentage of participants who were below the 50th percentile in the height/age index was significantly higher with the Spanish vs. the American reference pattern. The chi-square test for goodness of fit showed that the frequency of cases located below the 50th percentile in the height/age index was significantly higher with the American pattern in the age groups of 0 to 36 months (p = 0.022) and 37 to 72 months (p <0.001), but it was not significant (p = 0.225) in the older than 72 months age group. The American reference pattern is a better fit for the growth of Mexican children with DS compared with the Spanish reference pattern, and the distribution profile obtained with the standard growth and WHO reference was not suitable for the assessment of children with Down syndrome. Copyright AULA MEDICA EDICIONES 2014. Published by AULA MEDICA. All rights reserved.

Autism characteristics and behavioural disturbances in ~ 500 children with Down's syndrome in England and Wales.

PubMed

Warner, Georgina; Moss, Joanna; Smith, Patrick; Howlin, Patricia

2014-08-01

Recent research shows that a significant minority of children with Down's syndrome (DS) also meet diagnostic criteria for an autism spectrum disorder (ASD). The present study investigated what proportion of children aged 6-15 years with a confirmed diagnosis of DS in England and Wales display autistic-type behaviours, and explored the characteristics of this group of children. The Social Communication Questionnaire (SCQ) was used to screen for autism characteristics and the Strengths and Difficulties Questionnaire (SDQ) to explore behavioural difficulties. The proportion of children who met the cut-off score for ASD on the SCQ (total score ≥ 15) was 37.7% (95% CI: 33.4-42.0%); for autism (total score ≥ 22) the proportion was 16.5% (95% CI: 13.2-19.8%). Children who met the cut-off for ASD were significantly more likely to be reported as having emotional symptoms, conduct problems and hyperactivity on the SDQ than children who scored well below cut-off (total score < 10). However, the profile of their autism characteristics on the SCQ was atypical compared with individuals with idiopathic ASD. The pervasiveness of ASD in children with DS in England and Wales is substantially higher than in the general population. These children also experience significantly greater behavioural problems than children with DS only. Early detection of autism characteristics is important for appropriate intervention. However, the unusual profile of autism characteristics in this group may affect the recognition of the disorder and hinder the implementation of appropriate interventions. © 2014 International Society for Autism Research, Wiley Periodicals, Inc.

Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's syndrome using cell free fetal DNA in the UK National Health Service.

PubMed

Morris, Stephen; Karlsen, Saffron; Chung, Nancy; Hill, Melissa; Chitty, Lyn S

2014-01-01

Non-invasive prenatal testing (NIPT) for Down's syndrome (DS) using cell free fetal DNA in maternal blood has the potential to dramatically alter the way prenatal screening and diagnosis is delivered. Before NIPT can be implemented into routine practice, information is required on its costs and benefits. We investigated the costs and outcomes of NIPT for DS as contingent testing and as first-line testing compared with the current DS screening programme in the UK National Health Service. We used a pre-existing model to evaluate the costs and outcomes associated with NIPT compared with the current DS screening programme. The analysis was based on a hypothetical screening population of 10,000 pregnant women. Model inputs were taken from published sources. The main outcome measures were number of DS cases detected, number of procedure-related miscarriages and total cost. At a screening risk cut-off of 1∶150 NIPT as contingent testing detects slightly fewer DS cases, has fewer procedure-related miscarriages, and costs the same as current DS screening (around UK£280,000) at a cost of £500 per NIPT. As first-line testing NIPT detects more DS cases, has fewer procedure-related miscarriages, and is more expensive than current screening at a cost of £50 per NIPT. When NIPT uptake increases, NIPT detects more DS cases with a small increase in procedure-related miscarriages and costs. NIPT is currently available in the private sector in the UK at a price of £400-£900. If the NHS cost was at the lower end of this range then at a screening risk cut-off of 1∶150 NIPT as contingent testing would be cost neutral or cost saving compared with current DS screening. As first-line testing NIPT is likely to produce more favourable outcomes but at greater cost. Further research is needed to evaluate NIPT under real world conditions.

In vitro characterization of human hair follicle dermal sheath mesenchymal stromal cells and their potential in enhancing diabetic wound healing.

PubMed

Ma, Dongrui; Kua, Jonah Ee Hsiang; Lim, Wee Keng; Lee, Seng Teik; Chua, Alvin Wen Choong

2015-08-01

Little is published on the characterization and therapeutic potential of human mesenchymal cells derived from hair follicle (HF) dermal sheath (DS). In this study, we isolated and characterized HF DS-mesenchymal stromal cells (DS-MSCs) with respect to the bone marrow mesenchymal stromal cells (BM-MSCs). We further tested if DS-MSC-conditioned medium (CM), like what was previously reported for BM-MSC CM, has superior wound-healing properties, in both in vitro and in vivo wound models compared with skin fibroblast CM. DS-MSCs were isolated from HF and cultured in vitro to assess long-term growth potential, colony-forming efficiency (CFE), expression of CD surface markers and differentiation potential. The cytokine expression of DS-MSC CM was determined through an antibody-based protein array analysis. The wound-healing effects of the CM were tested in vitro with the use of human cell cultures and in vivo with the use of a diabetic mouse wound model. In vitro results revealed that DS-MSCs have high growth capacity and CFE while displaying some phenotypes similar to BM-MSCs. DS-MSCs strongly expressed many surface markers expressed in BM-MSCs and could also differentiate into osteoblasts, chondrocytes and adipocytes. DS-MSCs secreted significantly higher proportions of paracrine factors such as interleukin-6 (IL-6), IL-8 and growth-related oncogene. DS-MSC-CM demonstrated enhanced wound-healing effects on human skin keratinocytes, fibroblasts and endothelial cells in vitro, and the wound-healing time in diabetic mice was found to be shorter, compared with vehicle controls. Human HF DS stromal cells demonstrated MSC-like properties and might be an alternative source for therapeutic use in wound healing. Copyright © 2015 International Society for Cellular Therapy. Published by Elsevier Inc. All rights reserved.

Proteomic profile of serum of pregnant women carring a fetus with Down syndrome using nano uplc Q-tof ms/ms technology.

PubMed

López Uriarte, Graciela Arelí; Burciaga Flores, Carlos Horacio; Torres de la Cruz, Víctor Manuel; Medina Aguado, María Magdalena; Gómez Puente, Viviana Maricela; Romero Gutiérrez, Liliana Nayeli; Martínez de Villarreal, Laura Elia

2018-06-01

Prenatal diagnosis of Down syndrome (DS) is based on the calculated risk of maternal age, biochemical and ultrasonographic markers and recently by cfDNA. Differences in proteomic profiles may give an opportunity to find new biomarkers. Characterize proteome of serum of mothers carrying DS fetus. Blood serum samples of three groups of women were obtained, (a) 10 non-pregnant, (b) 10 pregnant with healthy fetus by ultrasound evaluation, (c) nine pregnant with DS fetus. Sample preparation was as follows: Albumin/IgG depletion, desalting, and trypsin digestion; the process was performed in nanoUPLC MS/MS. Data analysis was made with Mass Lynx 4.1 and ProteinLynx Global Server 3.0, peptide and protein recognition by MASCOT algorithm and UNIPROT-Swissprot database. Each group showed different protein profiles. Some proteins were shared between groups. Only sera from pregnant women showed proteins related to immune and clot pathways. Mothers with DS fetus had 42 specific proteins. We found a different serum protein profile in mothers carrying DS fetuses that do not reflect expression of genes in the extra chromosome. Further studies will be necessary to establish the role of these proteins in aneuploid fetus and analyze their possible use as potential biomarkers.

Perceived stress and well-being among dental hygiene and dental therapy students.

PubMed

Harris, M; Wilson, J C; Holmes, S; Radford, D R

2017-01-27

Aims To explore dental hygiene and dental therapy students' (DHDTS') perception of stress and well-being during their undergraduate education and establish base-line data for further studies of this group of dental professionals.Subjects and methods A questionnaire was distributed to Years 1, 2 and 3 DHDTS and final year outreach dental students (DS) (as a comparison group), at the University of Portsmouth Dental Academy (UPDA), during summer 2015. Data were collected on students' perception of levels of stress and well-being. Statistical analyses were undertaken using SPSS software. Mann-Whitney U tests with Bonferroni corrections were used and the level for a statistically significant difference was set at p <0.002.Results A response rate of 81% (DHDTS) and 85% (DS) was achieved. Clinical factors and academic work were perceived as stressful for both DHDTS and DS, with no significant difference between the groups. The majority of respondents reported levels of depression, anxiety, and stress to be within the normal range. All students reported high levels of positive well-being, with DHDTS scoring significantly higher than DS in the dimensions of personal growth, purpose in life, self-acceptance and positive relations with others (p <0.002).Conclusions DHDTS and DS identified sources of stress within their undergraduate education, but also perceived themselves as positively-functioning individuals.

Cortical bone trajectory screw fixation versus traditional pedicle screw fixation for 2-level posterior lumbar interbody fusion: comparison of surgical outcomes for 2-level degenerative lumbar spondylolisthesis.

PubMed

Sakaura, Hironobu; Miwa, Toshitada; Yamashita, Tomoya; Kuroda, Yusuke; Ohwada, Tetsuo

2018-01-01

OBJECTIVE The cortical bone trajectory (CBT) screw technique is a new nontraditional pedicle screw (PS) insertion method. However, the biomechanical behavior of multilevel CBT screw/rod fixation remains unclear, and surgical outcomes in patients after 2-level posterior lumbar interbody fusion (PLIF) using CBT screw fixation have not been reported. Thus, the purposes of this study were to examine the clinical and radiological outcomes after 2-level PLIF using CBT screw fixation for 2-level degenerative lumbar spondylolisthesis (DS) and to compare these outcomes with those after 2-level PLIF using traditional PS fixation. METHODS The study included 22 consecutively treated patients who underwent 2-level PLIF with CBT screw fixation for 2-level DS (CBT group, mean follow-up 39 months) and a historical control group of 20 consecutively treated patients who underwent 2-level PLIF using traditional PS fixation for 2-level DS (PS group, mean follow-up 35 months). Clinical symptoms were evaluated using the Japanese Orthopaedic Association (JOA) scoring system. Bony union was assessed by dynamic plain radiographs and CT images. Surgery-related complications, including symptomatic adjacent-segment disease (ASD), were examined. RESULTS The mean operative duration and intraoperative blood loss were 192 minutes and 495 ml in the CBT group and 218 minutes and 612 ml in the PS group, respectively (p < 0.05 and p > 0.05, respectively). The mean JOA score improved significantly from 12.3 points before surgery to 21.1 points (mean recovery rate 54.4%) at the latest follow-up in the CBT group and from 12.8 points before surgery to 20.4 points (mean recovery rate 51.8%) at the latest follow-up in the PS group (p > 0.05). Solid bony union was achieved at 90.9% of segments in the CBT group and 95.0% of segments in the PS group (p > 0.05). Symptomatic ASD developed in 2 patients in the CBT group (9.1%) and 4 patients in the PS group (20.0%, p > 0.05). CONCLUSIONS Two-level PLIF with CBT screw fixation for 2-level DS could be less invasive and result in improvement of clinical symptoms equal to those of 2-level PLIF using traditional PS fixation. The incidence of symptomatic ASD and the rate of bony union were lower in the CBT group than in the PS group, although these differences were not significant.

Neurotransmitter-based strategies for the treatment of cognitive dysfunction in Down syndrome.

PubMed

Das, Devsmita; Phillips, Cristy; Hsieh, Wayne; Sumanth, Krithika; Dang, Van; Salehi, Ahmad

2014-10-03

Down syndrome (DS) is a multisystem disorder affecting the cardiovascular, respiratory, gastrointestinal, neurological, hematopoietic, and musculoskeletal systems and is characterized by significant cognitive disability and a possible common pathogenic mechanism with Alzheimer's disease. During the last decade, numerous studies have supported the notion that the triplication of specific genes on human chromosome 21 plays a significant role in cognitive dysfunction in DS. Here we reviewed studies in trisomic mouse models and humans, including children and adults with DS. In order to identify groups of genes that contribute to cognitive disability in DS, multiple mouse models of DS with segmental trisomy have been generated. Over-expression of these particular genes in DS can lead to dysfunction of several neurotransmitter systems. Therapeutic strategies for DS have either focused on normalizing the expression of triplicated genes with important roles in DS or restoring the function of these systems. Indeed, our extensive review of studies on the pathogenesis of DS suggests that one plausible strategy for the treatment of cognitive dysfunction is to target the cholinergic, serotonergic, GABA-ergic, glutamatergic, and norepinephrinergic system. However, a fundamental strategy for treatment of cognitive dysfunction in DS would include reducing to normal levels the expression of specific triplicated genes in affected systems before the onset of neurodegeneration. Published by Elsevier Inc.

Measurement of the mass and width of the Ds1(2536)+ meson

NASA Astrophysics Data System (ADS)

Lees, J. P.; Poireau, V.; Prencipe, E.; Tisserand, V.; Garra Tico, J.; Grauges, E.; Martinelli, M.; Milanes, D. A.; Palano, A.; Pappagallo, M.; Eigen, G.; Stugu, B.; Sun, L.; Brown, D. N.; Kerth, L. T.; Kolomensky, Yu. G.; Lynch, G.; Osipenkov, I. L.; Koch, H.; Schroeder, T.; Asgeirsson, D. J.; Hearty, C.; Mattison, T. S.; McKenna, J. A.; Khan, A.; Blinov, V. E.; Buzykaev, A. R.; Druzhinin, V. P.; Golubev, V. B.; Kravchenko, E. A.; Onuchin, A. P.; Serednyakov, S. I.; Skovpen, Yu. I.; Solodov, E. P.; Todyshev, K. Yu.; Yushkov, A. N.; Bondioli, M.; Curry, S.; Kirkby, D.; Lankford, A. J.; Mandelkern, M.; Stoker, D. P.; Atmacan, H.; Gary, J. W.; Liu, F.; Long, O.; Vitug, G. M.; Campagnari, C.; Hong, T. M.; Kovalskyi, D.; Richman, J. D.; West, C. A.; Eisner, A. M.; Kroseberg, J.; Lockman, W. S.; Martinez, A. J.; Schalk, T.; Schumm, B. A.; Seiden, A.; Cheng, C. H.; Doll, D. A.; Echenard, B.; Flood, K. T.; Hitlin, D. G.; Ongmongkolkul, P.; Porter, F. C.; Rakitin, A. Y.; Andreassen, R.; Dubrovin, M. S.; Meadows, B. T.; Sokoloff, M. D.; Bloom, P. C.; Ford, W. T.; Gaz, A.; Nagel, M.; Nauenberg, U.; Smith, J. G.; Wagner, S. R.; Ayad, R.; Toki, W. H.; Jasper, H.; Petzold, A.; Spaan, B.; Kobel, M. J.; Schubert, K. R.; Schwierz, R.; Bernard, D.; Verderi, M.; Clark, P. J.; Playfer, S.; Watson, J. E.; Bettoni, D.; Bozzi, C.; Calabrese, R.; Cibinetto, G.; Fioravanti, E.; Garzia, I.; Luppi, E.; Munerato, M.; Negrini, M.; Piemontese, L.; Baldini-Ferroli, R.; Calcaterra, A.; de Sangro, R.; Finocchiaro, G.; Nicolaci, M.; Pacetti, S.; Patteri, P.; Peruzzi, I. M.; Piccolo, M.; Rama, M.; Zallo, A.; Contri, R.; Guido, E.; Lo Vetere, M.; Monge, M. R.; Passaggio, S.; Patrignani, C.; Robutti, E.; Bhuyan, B.; Prasad, V.; Lee, C. L.; Morii, M.; Edwards, A. J.; Adametz, A.; Marks, J.; Uwer, U.; Bernlochner, F. U.; Ebert, M.; Lacker, H. M.; Lueck, T.; Dauncey, P. D.; Tibbetts, M.; Behera, P. K.; Mallik, U.; Chen, C.; Cochran, J.; Crawley, H. B.; Meyer, W. T.; Prell, S.; Rosenberg, E. I.; Rubin, A. E.; Gritsan, A. V.; Guo, Z. J.; Arnaud, N.; Davier, M.; Derkach, D.; Firmino da Costa, J.; Grosdidier, G.; Le Diberder, F.; Lutz, A. M.; Malaescu, B.; Perez, A.; Roudeau, P.; Schune, M. H.; Stocchi, A.; Wang, L.; Wormser, G.; Lange, D. J.; Wright, D. M.; Bingham, I.; Chavez, C. A.; Coleman, J. P.; Fry, J. R.; Gabathuler, E.; Hutchcroft, D. E.; Payne, D. J.; Touramanis, C.; Bevan, A. J.; di Lodovico, F.; Sacco, R.; Sigamani, M.; Cowan, G.; Paramesvaran, S.; Wren, A. C.; Brown, D. N.; Davis, C. L.; Denig, A. G.; Fritsch, M.; Gradl, W.; Hafner, A.; Alwyn, K. E.; Bailey, D.; Barlow, R. J.; Jackson, G.; Lafferty, G. D.; Cenci, R.; Hamilton, B.; Jawahery, A.; Roberts, D. A.; Simi, G.; Dallapiccola, C.; Salvati, E.; Cowan, R.; Dujmic, D.; Sciolla, G.; Lindemann, D.; Patel, P. M.; Robertson, S. H.; Schram, M.; Biassoni, P.; Lazzaro, A.; Lombardo, V.; Palombo, F.; Stracka, S.; Cremaldi, L.; Godang, R.; Kroeger, R.; Sonnek, P.; Summers, D. J.; Nguyen, X.; Taras, P.; de Nardo, G.; Monorchio, D.; Onorato, G.; Sciacca, C.; Raven, G.; Snoek, H. L.; Jessop, C. P.; Knoepfel, K. J.; Losecco, J. M.; Wang, W. F.; Corwin, L. A.; Honscheid, K.; Kass, R.; Blount, N. L.; Brau, J.; Frey, R.; Kolb, J. A.; Rahmat, R.; Sinev, N. B.; Strom, D.; Strube, J.; Torrence, E.; Castelli, G.; Feltresi, E.; Gagliardi, N.; Margoni, M.; Morandin, M.; Posocco, M.; Rotondo, M.; Simonetto, F.; Stroili, R.; Ben-Haim, E.; Bomben, M.; Bonneaud, G. R.; Briand, H.; Calderini, G.; Chauveau, J.; Hamon, O.; Leruste, Ph.; Marchiori, G.; Ocariz, J.; Sitt, S.; Biasini, M.; Manoni, E.; Rossi, A.; Angelini, C.; Batignani, G.; Bettarini, S.; Carpinelli, M.; Casarosa, G.; Cervelli, A.; Forti, F.; Giorgi, M. A.; Lusiani, A.; Neri, N.; Paoloni, E.; Rizzo, G.; Walsh, J. J.; Lopes Pegna, D.; Lu, C.; Olsen, J.; Smith, A. J. S.; Telnov, A. V.; Anulli, F.; Cavoto, G.; Faccini, R.; Ferrarotto, F.; Ferroni, F.; Gaspero, M.; Li Gioi, L.; Mazzoni, M. A.; Piredda, G.; Buenger, C.; Hartmann, T.; Leddig, T.; Schröder, H.; Waldi, R.; Adye, T.; Olaiya, E. O.; Wilson, F. F.; Emery, S.; Hamel de Monchenault, G.; Vasseur, G.; Yèche, Ch.; Allen, M. T.; Aston, D.; Bard, D. J.; Bartoldus, R.; Benitez, J. F.; Cartaro, C.; Convery, M. R.; Dorfan, J.; Dubois-Felsmann, G. P.; Dunwoodie, W.; Field, R. C.; Franco Sevilla, M.; Fulsom, B. G.; Gabareen, A. M.; Graham, M. T.; Grenier, P.; Hast, C.; Innes, W. R.; Kelsey, M. H.; Kim, H.; Kim, P.; Kocian, M. L.; Leith, D. W. G. S.; Lewis, P.; Li, S.; Lindquist, B.; Luitz, S.; Luth, V.; Lynch, H. L.; Macfarlane, D. B.; Muller, D. R.; Neal, H.; Nelson, S.; O'Grady, C. P.; Ofte, I.; Perl, M.; Pulliam, T.; Ratcliff, B. N.; Robertson, S. H.; Roodman, A.; Salnikov, A. A.; Santoro, V.; Schindler, R. H.; Schwiening, J.; Snyder, A.; Su, D.; Sullivan, M. K.; Sun, S.; Suzuki, K.; Thompson, J. M.; Va'Vra, J.; Wagner, A. P.; Weaver, M.; Wisniewski, W. J.; Wittgen, M.; Wright, D. H.; Wulsin, H. W.; Yarritu, A. K.; Young, C. C.; Ziegler, V.; Chen, X. R.; Park, W.; Purohit, M. V.; White, R. M.; Wilson, J. R.; Randle-Conde, A.; Sekula, S. J.; Bellis, M.; Burchat, P. R.; Miyashita, T. S.; Alam, M. S.; Ernst, J. A.; Guttman, N.; Soffer, A.; Lund, P.; Spanier, S. M.; Eckmann, R.; Ritchie, J. L.; Ruland, A. M.; Schilling, C. J.; Schwitters, R. F.; Wray, B. C.; Izen, J. M.; Lou, X. C.; Bianchi, F.; Gamba, D.; Pelliccioni, M.; Lanceri, L.; Vitale, L.; Lopez-March, N.; Martinez-Vidal, F.; Oyanguren, A.; Ahmed, H.; Albert, J.; Banerjee, Sw.; Choi, H. H. F.; Hamano, K.; King, G. J.; Kowalewski, R.; Lewczuk, M. J.; Lindsay, C.; Nugent, I. M.; Roney, J. M.; Sobie, R. J.; Gershon, T. J.; Harrison, P. F.; Latham, T. E.; Puccio, E. M. T.; Band, H. R.; Dasu, S.; Pan, Y.; Prepost, R.; Vuosalo, C. O.; Wu, S. L.

2011-04-01

The decay width and mass of the Ds1(2536)+ meson are measured via the decay channel Ds1+→D*+KS0 using 385fb-1 of data recorded with the BABAR detector in the vicinity of the Υ(4S) resonance at the PEP-II asymmetric-energy electron-positron collider. The result for the decay width is Γ(Ds1+)=0.92±0.03(stat.)±0.04(syst.)MeV. For the mass, a value of m(Ds1+)=2535.08±0.01(stat.)±0.15(syst.)MeV/c2 is obtained. The mass difference between the Ds1+ and the D*+ is measured to be m(Ds1+)-m(D*+)=524.83±0.01(stat.)±0.04(syst.)MeV/c2, representing a significant improvement compared to the current world average. The unnatural spin-parity assignment for the Ds1+ meson is confirmed.

Extracorporeal Membrane Oxygenation Characteristics and Outcomes in Adult Patients With Down Syndrome.

PubMed

Duffy, Vicky; Gomez, Daniel; Rycus, Peter; Rivera, Brian; Santoro, Stephanie L; Backes, Carl H; Cua, Clifford L

2018-05-17

Patients with Down syndrome (DS) may have multiple medical issues that place them at risk for requiring extracorporeal membrane oxygenation. Use of extracorporeal membrane oxygenation in pediatric patients with Down syndrome has been described, but minimal data exist for extracorporeal membrane oxygenation use in adults with Down syndrome. The goal of this study was to describe the clinical characteristics and to determine if there were differences between adult extracorporeal membrane oxygenation patients with Down syndrome that were alive (aDS) versus those that died (dDS) prior to hospital discharge. Patients with Down syndrome that were 18 years and older registered in the Extracorporeal Life Support Organization registry from 1983 to 2016 were analyzed. Demographics and extracorporeal membrane oxygenation characteristics were recorded. A total of 21 adults with Down syndrome were identified. Incidence of extracorporeal membrane oxygenation in adults with Down syndrome was 0.88 per 1000 extracorporeal membrane oxygenation procedures. Hospital mortality was 57.1% (12/21). There were no significant differences between aDS versus dDS for age (24.9 ± 4.8 vs. 28.1 ± 10.2 years), weight (90.7 ± 13.0 vs. 79.1 ± 27.0 kg), gender (4 males vs. 8 males), initial pH (7.18 ± 0.19 vs. 7.27 ± 0.16), or initial pO2 (51.7 ± 13.9 vs. 45.4 ± 19.9), respectively. There were no significant differences between aDS versus dDS in duration of extracorporeal membrane oxygenation run (239 ± 159 h vs. 455 ± 570 h, respectively), ventilator or extracorporeal membrane oxygenation mode, and nitric oxide use. aDS had fewer incidences of mechanical and neurologic complications (41.7% vs. 0.0%, P < 0.05) versus dDS. There were no other significant differences in complication rates between the two groups. Use of extracorporeal membrane oxygenation in the adult population with Down syndrome is significantly less compared to the pediatric population with Down syndrome. Baseline characteristics are not predictive of overall survival. There were minimal differences noted between aDS versus dDS during their extracorporeal membrane oxygenation course. Mortality rates are similar to non-Down syndrome patients placed on extracorporeal membrane oxygenation. Extracorporeal membrane oxygenation may be a reasonable option for adult patients with Down syndrome requiring intensive care. © 2018 International Center for Artificial Organs and Transplantation and Wiley Periodicals, Inc.

CfDS attends the first meeting of the All-Party Parliamentary Astronomy and Space Environment Group

NASA Astrophysics Data System (ADS)

Mizon, B.

1999-06-01

This group first met on March 11th, 1999, as 'a forum for discussion to further parliamentary interest in astronomy and the space environment affecting terrestrial life and its climate; and to increase awareness of the social, political and philosophical implications of present and future space technologies connected with exploring and understanding the cosmos'. CfDS coordinator Bob Mizon attended the first meeting of the group.

Low-Salt Intake during Mating or Gestation in Rats Is Associated with Low Birth and Survival Rates of Babies.

PubMed

Chou, Ranna; Hara, Anna; Du, DongDong; Shimizu, Namiko; Sakuyama, Hiroe; Uehara, Yoshio

2014-01-01

We investigated the influence of maternal salt restriction during mating or gestation on birth rate and offspring growth in Dahl salt-sensitive rats (DS). DS were divided into 5 groups: DS fed a low-salt (0.3% NaCl, w/w) (DS-low) or high-salt (4% NaCl, w/w) diet (DS-high) during mating and DS-high or DS-low during gestation, and DS fed regular chow (0.75% NaCl, w/w) (DS-regular) throughout mating and gestation. During the unspecified periods, the rats were given regular chow. DS-low during mating delivered fewer infants than high-salt mothers (P < 0.05). The birth rate on regular chow was 87%. Six out of 11 DS-low rats during pregnancy produced pups while the rats fed a high-salt diet all delivered pups (P < 0.025). The pup survival rate was 67% for high-salt mothers during mating and 54% for mothers on a low-salt diet. The pup survival rate was 95% for mothers on a high-salt diet during pregnancy and 64% for mothers on a low-salt diet (P < 0.0001). Seven out of 8 DS-regular rats during mating delivered 59 neonates. However, 66% of the neonates survived. A low-salt diet during mating or pregnancy lowers birth rate and the neonates from low-salt mothers during pregnancy were more likely to die than those from high-salt mothers.

Reliability, validity, and interpretation of the dependence scale in mild to moderately severe Alzheimer's disease.

PubMed

Lenderking, William R; Wyrwich, Kathleen W; Stolar, Marilyn; Howard, Kellee A; Leibman, Chris; Buchanan, Jacqui; Lacey, Loretto; Kopp, Zoe; Stern, Yaakov

2013-12-01

The Dependence Scale (DS) was designed to measure dependence on others among patients with Alzheimer's disease (AD). The objectives of this research were primarily to strengthen the psychometric evidence for the use of the DS in AD studies. Patients with mild to moderately severe AD were examined in 3 study databases. Within each data set, internal consistency, validity, and responsiveness were examined, and structural equation models were fit. The DS has strong psychometric properties. The DS scores differed significantly across known groups and demonstrated moderate to strong correlations with measures hypothesized to be related to dependence (|r| ≥ .31). Structural equation modeling supported the validity of the DS concept. An anchor-based DS responder definition to interpret a treatment benefit over time was identified. The DS is a reliable, valid, and interpretable measure of dependence associated with AD and is shown to be related to--but provides information distinct from--cognition, functioning, and behavior.

Measurement of the decay constant f(Ds+) using D(s+)-->l+ nu.

PubMed

Artuso, M; Blusk, S; Butt, J; Khalil, S; Li, J; Menaa, N; Mountain, R; Nisar, S; Randrianarivony, K; Sia, R; Skwarnicki, T; Stone, S; Wang, J C; Bonvicini, G; Cinabro, D; Dubrovin, M; Lincoln, A; Asner, D M; Edwards, K W; Naik, P; Briere, R A; Ferguson, T; Tatishvili, G; Vogel, H; Watkins, M E; Rosner, J L; Adam, N E; Alexander, J P; Cassel, D G; Duboscq, J E; Ehrlich, R; Fields, L; Gibbons, L; Gray, R; Gray, S W; Hartill, D L; Heltsley, B K; Hertz, D; Jones, C D; Kandaswamy, J; Kreinick, D L; Kuznetsov, V E; Mahlke-Krüger, H; Mohapatra, D; Onyisi, P U E; Patterson, J R; Peterson, D; Pivarski, J; Riley, D; Ryd, A; Sadoff, A J; Schwarthoff, H; Shi, X; Stroiney, S; Sun, W M; Wilksen, T; Athar, S B; Patel, R; Yelton, J; Rubin, P; Cawlfield, C; Eisenstein, B I; Karliner, I; Kim, D; Lowrey, N; Selen, M; White, E J; Wiss, J; Mitchell, R E; Shepherd, M R; Besson, D; Pedlar, T K; Cronin-Hennessy, D; Gao, K Y; Hietala, J; Kubota, Y; Klein, T; Lang, B W; Poling, R; Scott, A W; Smith, A; Zweber, P; Dobbs, S; Metreveli, Z; Seth, K K; Tomaradze, A; Ernst, J; Ecklund, K M; Severini, H; Love, W; Savinov, V; Aquines, O; Lopez, A; Mehrabyan, S; Mendez, H; Ramirez, J; Huang, G S; Miller, D H; Pavlunin, V; Sanghi, B; Shipsey, I P J; Xin, B; Adams, G S; Anderson, M; Cummings, J P; Danko, I; Hu, D; Moziak, B; Napolitano, J; He, Q; Insler, J; Muramatsu, H; Park, C S; Thorndike, E H; Yang, F

2007-08-17

We measure the decay constant f(Ds+) using the D(s+)-->l+ nu channel, where the l+ designates either a mu+ or a tau+, when the tau+ -->pi+ nu. Using both measurements we find f(Ds+)=274+/-13+/-7 MeV. Combining with our previous determination of f(D+), we compute the ratio f(Ds+)/f(D+)=1.23+/-0.11+/-0.04. We compare with theoretical estimates.

Preparation, characterization and in vitro anticoagulant activity of corn stover xylan sulfates.

PubMed

Cheng, He-Li; Liu, Hao; Feng, Qing-Hua; Xie, Yi-Min; Zhan, Huai-Yu

2017-02-01

A new anticoagulant agent was prepared by introducing sulfate groups into corn stover xylan through homogeneous reactions. Three organic solvents, N, N-dimethylformamide (DMF), dimethyl sulfoxide (DMSO) and formamide (FA), were adopted as reaction media, with the assistance of LiCl. Structural characterization by FT-IR and 13 CNMR showed that xylan sulfate (XS) could be successfully synthesized with SO 3 ∙Pyridine (SO 3 ∙Py) complexes sulfation reagent in the three media. The effect of sulfation temperature, sulfation time, media type and molar ratio of -SO 3 /-OH on the degree of substitution (DS) and degree of the polymerization (DP) were studied. DMF/LiCl were more effective than DMSO/LiCl and FA/LiCl in preparation of xylan sulfate with high DS. The optimal conditions for sulfation were obtained when SO 3 ∙Py complex was added to DMF/LiCl with -SO 3 /-OH ratio of 1.5:1 and maintained at 50 °C for 3 h. Degree of polymerization of xylan was decreased during the sulfation process and DMF/LiCl offered the least xylan degradation as compared with DMSO/LiCl or FA/LiCl. Anticoagulant activities of the resultant xylan sulfates with different DS were evaluated by using activated partial thromboplastin time (APTT), thrombin time (TT), and prothrombin time (PT). Results indicated that the introducing of sulfate groups into xylan did endow the polysaccharides with anticoagulant activity. The APTT and TT of XS with DS of 1.20 reached 141 and 45.3 s at a dosage of 20 μg/mL, while the APTT and TT values for the blank sample were only 35.5 and 15.6 s. Furthermore, coagulation time was prolonged with the increase of DS and the concentration of XS. Our findings provide new insights into the value-added utilization of agricultural biomass.

Executive function and academic achievement in primary - grade students with Down syndrome.

PubMed

Will, E; Fidler, D J; Daunhauer, L; Gerlach-McDonald, B

2017-02-01

Executive function (EF) plays a critical role in academic outcomes in typically developing children, but the contribution of EF to academic performance in Down syndrome (DS) is less well understood. This study evaluated differences in early academic foundations between primary school aged children with DS and non-verbal mental-age matched typically developing (TD) children. Additionally, the contribution of EF domains to academic outcomes was evaluated in each group. Participants with DS (n = 29) and mental-age matched TD participants (n = 23) were administered the Woodcock Johnson- III NU Tests of Academic Achievement, as well as a laboratory-based EF battery, including measures of working memory, shifting, inhibition and object-planning. Findings indicated a difference in early academic foundations profile between children with DS and mental-age matched TD children. Patterns of EF contributions towards academic outcomes were also observed across groups. Aspects of EF are critical to academic achievement in DS but differentially so relative to typical development. Implications for educational instruction are discussed. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Functional network changes in the hippocampus contribute to depressive symptoms in epilepsy.

PubMed

Peng, Weifeng; Mao, Lingyan; Yin, Dazhi; Sun, Wei; Wang, He; Zhang, Qianqian; Wang, Jing; Chen, Caizhong; Zeng, Mengsu; Ding, Jing; Wang, Xin

2018-06-01

Our study aimed to investigate the functional connectivity (FC) between the hippocampus and other brain regions in epilepsy patients with depressive symptoms. Epilepsy patients with and without depressive symptoms, assessed using the 17-item Hamilton Depression Rating Scale scores, were enrolled. Healthy volunteers were recruited as the control group. Resting state functional magnetic resonance imaging was performed, and the data were processed using Resting-State fMRI (DPARSFA2.0) software. The regional homogeneity (ReHo) values and the FC between the right hippocampus and other brain regions were analysed. The ReHo value of the cerebellum (particularly the left cerebellar hemisphere) was significantly lower in epilepsy patients than in healthy controls, and was lower in epilepsy patients with depressive symptoms (EP + DS group) than in those without depressive symptoms (EP-DS group, p < 0.05). Additionally, the FC between the right hippocampus and the bilateral cerebellum was significantly greater in the EP + DS group than in the EP-DS group (p < 0.05). Moreover, abnormal ReHo values in the bilateral frontal lobes, including the right anterior cingulate cortex, and changes in the FC between the right hippocampus and the bilateral frontal lobes were found in the EP + DS group. Minor changes in the FC between the temporal and parietal lobes were also found in the epilepsy patients. The functional right hippocampus-cerebellum circuit might contribute to the pathogenesis of depressive symptoms in epilepsy, with the exception of brain areas associated with emotion such as the frontal and temporal lobes. Modulating the hippocampus-cerebellum circuit is a potential therapeutic strategy for epilepsy patients with depressive symptoms. Copyright © 2018 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Odors identification differences in deficit and nondeficit schizophrenia.

PubMed

Pełka-Wysiecka, Justyna; Wroński, Michał; Bieńkowski, Przemysław; Murawiec, Sławomir; Samochowiec, Agnieszka; Samochowiec, Jerzy

2016-04-01

There is evidence that deficit schizophrenia (DS) is associated with neuroanatomical changes in structures including those involved in olfaction. Olfactory dysfunction, which includes impaired odor identification, is found in patients with schizophrenia and their family members. 82 patients with DS and 72 patients with NDS (nondeficit schizophrenia), somatically healthy and without acute psychotic symptoms undertook a smell identification test using the 16-item Sniffin' Sticks ID test. Demographic and psychometric data were collected. No differences in the course of the illness, perinatal history and demographic data were found between the DS and NDS groups. No differences in the number of correctly identified odor samples were found. Some differences in the qualitative identification of samples between DS and NDS were found in the groups of female (fewer correct identifications of cinnamon and pineapple smells in DS) and male patients (fewer correct identifications of the smell of rose and more correct identifications of the smell of orange than in NDS). No overall differences between DS and NDS regarding odors identification have been found. The results seem to indicate some specific deficits in the identification of markers of rose, pineapple, orange and cinnamon. Copyright © 2015 Institute of Pharmacology, Polish Academy of Sciences. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Pediatric Eating Assessment Tool-10 as an indicator to predict aspiration in children with esophageal atresia.

PubMed

Soyer, Tutku; Yalcin, Sule; Arslan, Selen Serel; Demir, Numan; Tanyel, Feridun Cahit

2017-10-01

Airway aspiration is a common problem in children with esophageal atresia (EA). Pediatric Eating Assessment Tool-10 (pEAT-10) is a self-administered questionnaire to evaluate dysphagia symptoms in children. A prospective study was performed to evaluate the validity of pEAT-10 to predict aspiration in children with EA. Patients with EA were evaluated for age, sex, type of atresia, presence of associated anomalies, type of esophageal repair, time of definitive treatment, and the beginning of oral feeding. Penetration-aspiration score (PAS) was evaluated with videofluoroscopy (VFS) and parents were surveyed for pEAT-10, dysphagia score (DS) and functional oral intake scale (FOIS). PAS scores greater than 7 were considered as risk of aspiration. EAT-10 values greater than 3 were assessed as abnormal. Higher DS scores shows dysphagia whereas higher FOIS shows better feeding abilities. Forty patients were included. Children with PAS greater than 7 were assessed as PAS+ group, and scores less than 7 were constituted as PAS- group. Demographic features and results of surgical treatments showed no difference between groups (p>0.05). The median values of PAS, pEAT-10 and DS scores were significantly higher in PAS+ group when compared to PAS- group (p<0.05). The sensitivity and specificity of pEAT-10 to predict aspiration were 88% and 77%, and the positive and negative predictive values were 22% and 11%, respectively. Type-C cases had better pEAT-10 and FOIS scores with respect to type-A cases, and both scores were statistically more reliable in primary repair than delayed repair (p<0.05). Among the postoperative complications, only leakage had impact on DS, pEAT-10, PAS and FOIS scores (p<0.05). The pEAT-10 is a valid, simple and reliable tool to predict aspiration in children. Patients with higher pEAT-10 scores should undergo detailed evaluation of deglutitive functions and assessment of risks of aspiration to improve safer feeding strategies. Level II (Development of diagnostic criteria in a consecutive series of patients and a universally applied "gold standard"). Copyright © 2017 Elsevier Inc. All rights reserved.

Differential Genetic Associations for Systemic Lupus Erythematosus Based on Anti–dsDNA Autoantibody Production

PubMed Central

Chung, Sharon A.; Taylor, Kimberly E.; Graham, Robert R.; Nititham, Joanne; Lee, Annette T.; Ortmann, Ward A.; Jacob, Chaim O.; Alarcón-Riquelme, Marta E.; Tsao, Betty P.; Harley, John B.; Gaffney, Patrick M.; Moser, Kathy L.; Petri, Michelle; Demirci, F. Yesim; Kamboh, M. Ilyas; Manzi, Susan; Gregersen, Peter K.; Langefeld, Carl D.; Behrens, Timothy W.; Criswell, Lindsey A.

2011-01-01

Systemic lupus erythematosus (SLE) is a clinically heterogeneous, systemic autoimmune disease characterized by autoantibody formation. Previously published genome-wide association studies (GWAS) have investigated SLE as a single phenotype. Therefore, we conducted a GWAS to identify genetic factors associated with anti–dsDNA autoantibody production, a SLE–related autoantibody with diagnostic and clinical importance. Using two independent datasets, over 400,000 single nucleotide polymorphisms (SNPs) were studied in a total of 1,717 SLE cases and 4,813 healthy controls. Anti–dsDNA autoantibody positive (anti–dsDNA +, n = 811) and anti–dsDNA autoantibody negative (anti–dsDNA –, n = 906) SLE cases were compared to healthy controls and to each other to identify SNPs associated specifically with these SLE subtypes. SNPs in the previously identified SLE susceptibility loci STAT4, IRF5, ITGAM, and the major histocompatibility complex were strongly associated with anti–dsDNA + SLE. Far fewer and weaker associations were observed for anti–dsDNA – SLE. For example, rs7574865 in STAT4 had an OR for anti–dsDNA + SLE of 1.77 (95% CI 1.57–1.99, p = 2.0E-20) compared to an OR for anti–dsDNA – SLE of 1.26 (95% CI 1.12–1.41, p = 2.4E-04), with pheterogeneity<0.0005. SNPs in the SLE susceptibility loci BANK1, KIAA1542, and UBE2L3 showed evidence of association with anti–dsDNA + SLE and were not associated with anti–dsDNA – SLE. In conclusion, we identified differential genetic associations with SLE based on anti–dsDNA autoantibody production. Many previously identified SLE susceptibility loci may confer disease risk through their role in autoantibody production and be more accurately described as autoantibody propensity loci. Lack of strong SNP associations may suggest that other types of genetic variation or non-genetic factors such as environmental exposures have a greater impact on susceptibility to anti–dsDNA – SLE. PMID:21408207

Potential role of small noncoding RNAs in regulating hypovirulence in Rhizoctonia solani anastomosis group 3

USDA-ARS?s Scientific Manuscript database

Double-stranded RNA (dsRNA) elements are frequently associated with fungi. In Rhizoctonia solani anastomosis group-3 (AG3), the 3.6 kb dsRNA element M2 has been associated with the hypovirulence of Rhs1A1 strain, enabling its use as a biological control agent. Previous studies that examined the rol...

The Activating Human NK Cell Receptor KIR2DS2 Recognizes a β2-Microglobulin-Independent Ligand on Cancer Cells.

PubMed

Thiruchelvam-Kyle, Lavanya; Hoelsbrekken, Sigurd E; Saether, Per C; Bjørnsen, Elisabeth Gyllensten; Pende, Daniela; Fossum, Sigbjørn; Daws, Michael R; Dissen, Erik

2017-04-01

The functions of activating members of the killer cell Ig-like receptor (KIR) family are not fully understood, as the ligands for these receptors are largely unidentified. In this study, we report that KIR2DS2 reporter cells recognize a ligand expressed by cancer cell lines. All cancer targets recognized by KIR2DS2 were also recognized by KIR2DL2 and KIR2DL3 reporters. Trogocytosis of membrane proteins from the cancer targets was observed with responding reporter cells, indicating the formation of KIR2DS2 ligand-specific immunological synapses. HLA-C typing of target cells showed that KIR2DS2 recognition was independent of the HLA C1 or C2 group, whereas targets cells that were only recognized by KIR2DL3 expressed C1 group alleles. Anti-HLA class I Abs blocked KIR2DL3 responses toward C1-expressing targets, but they did not block KIR2DS2 recognition of cancer cells. Small interfering RNA knockdown of β 2 -microglobulin reduced the expression of class I H chain on the cancer targets by >97%, but it did not reduce the KIR2DS2 reporter responses, indicating a β 2 -microglobulin-independent ligand for KIR2DS2. Importantly, KIR2DL3 responses toward some KIR2DS2 ligand-expressing cells were also undiminished after β 2 -microglobulin knockdown, and they were not blocked by anti-HLA class I Abs, suggesting that KIR2DL3, in addition to the traditional HLA-C ligands, can bind to the same β 2 -microglobulin-independent ligand as KIR2DS2. These observations indicate the existence of a novel, presently uncharacterized ligand for the activating NK cell receptor KIR2DS2. Molecular identification of this ligand may lead to improved KIR-HLA mismatching in hematopoietic stem cell transplantation therapy for leukemia and new, more specific NK cell-based cancer therapies. Copyright © 2017 by The American Association of Immunologists, Inc.

Decreased complement mediated binding of antibody//sup 3/-dsDNA immune complexes to the red blood cells of patients with systemic lupus erythematosus, rheumatoid arthritis, and hematologic malignancies

DOE Office of Scientific and Technical Information (OSTI.GOV)

Taylor, R.P.; Horgan, C.; Buschbacher, R.

1983-06-01

The complement mediated binding of prepared antibody//sup 3/H-dsDNA immune complexes to the red blood cells obtained from a number of patient populations has been investigated. Patients with solid tumors have binding activity similar to that seen in a normal group of individuals. However, a significant fraction of patients with systemic lupus erythematosus, rheumatoid arthritis, and hematologic malignancies have lowered binding activity compared with normal subjects. Quantitative studies indicate the lowered activity probably arises due to a decrease in complement receptors on the respective red blood cells. The potential importance and implications of these findings are briefly discussed.

From Facial Emotional Recognition Abilities to Emotional Attribution: A Study in Down Syndrome

ERIC Educational Resources Information Center

Hippolyte, Loyse; Barisnikov, Koviljka; Van der Linden, Martial; Detraux, Jean-Jacques

2009-01-01

Facial expression processing and the attribution of facial emotions to a context were investigated in adults with Down syndrome (DS) in two experiments. Their performances were compared with those of a child control group matched for receptive vocabulary. The ability to process faces without emotional content was controlled for, and no differences…

Addressing phonological memory in language therapy with clients who have Down syndrome: Perspectives of speech-language pathologists.

PubMed

Faught, Gayle G; Conners, Frances A; Barber, Angela B; Price, Hannah R

2016-11-01

Phonological memory (PM) plays a significant role in language development but is impaired in individuals with Down syndrome (DS). Without formal recommendations on how to address PM limitations in clients with DS, it is possible speech-language pathologists (SLPs) find ways to do so in their practices. This study asked if and how SLPs address PM in language therapy with clients who have DS. It also asked about SLPs' opinions of the importance, practicality and difficulty of addressing PM in clients with DS. SLPs participated in an online survey that asked if they address PM in clients with DS and, if so, how often and with which techniques. The survey also asked SLPs to rate their opinions of addressing PM in clients with DS with Likert scales. To contrast clients with DS, SLPs were asked about their practices and opinions with clients who have specific language impairment (SLI) and autism spectrum disorders (ASD). SLPs were recruited through e-mails sent from state organizations and researchers. To compare SLPs' practices and opinions across client types, frequency analyses and analyses of variance (ANOVAs) were run. In all, 290 SLPs from 28 states completed the survey. Nearly all SLPs were currently practising at the time data were collected, and all worked with at least one of the three client types. Findings indicated SLPs less often addressed PM and used less variety when addressing PM with clients who have DS compared with clients who have SLI or ASD. Further, SLPs considered it less important, less practical and more difficult to address PM in clients who have DS when compared with clients who have SLI, whereas a similar pattern was found with clients who have ASD. SLPs' opinions could be one reason they under-address PM with clients who have DS. Other reasons include there are no evidence-based practice (EBP) guidelines on this topic, and there is not enough familiarity with the DS phenotype among SLPs. Future research on ways to address PM in clients with DS successfully are essential so that EBP guidelines can be established and language therapy can be made more effective. © 2016 Royal College of Speech and Language Therapists.

Addressing phonological memory in language therapy with clients who have Down syndrome: Perspectives of speech–language pathologists

PubMed Central

Faught, Gayle G.; Conners, Frances A.; Barber, Angela B.; Price, Hannah R.

2018-01-01

Background Phonological memory (PM) plays a significant role in language development but is impaired in individuals with Down syndrome (DS). Without formal recommendations on how to address PM limitations in clients with DS, it is possible speech–language pathologists (SLPs) find ways to do so in their practices. Aims This study asked if and how SLPs address PM in language therapy with clients who have DS. It also asked about SLPs’ opinions of the importance, practicality and difficulty of addressing PM in clients with DS. Methods & Procedures SLPs participated in an online survey that asked if they address PM in clients with DS and, if so, how often and with which techniques. The survey also asked SLPs to rate their opinions of addressing PM in clients with DS with Likert scales. To contrast clients with DS, SLPs were asked about their practices and opinions with clients who have specific language impairment (SLI) and autism spectrum disorders (ASD). SLPs were recruited through e-mails sent from state organizations and researchers. To compare SLPs’ practices and opinions across client types, frequency analyses and analyses of variance (ANOVAs) were run. Outcomes & Results In all, 290 SLPs from 28 states completed the survey. Nearly all SLPs were currently practising at the time data were collected, and all worked with at least one of the three client types. Findings indicated SLPs less often addressed PM and used less variety when addressing PM with clients who have DS compared with clients who have SLI or ASD. Further, SLPs considered it less important, less practical and more difficult to address PM in clients who have DS when compared with clients who have SLI, whereas a similar pattern was found with clients who have ASD. Conclusions & Implications SLPs’ opinions could be one reason they under-address PM with clients who have DS. Other reasons include there are no evidence-based practice (EBP) guidelines on this topic, and there is not enough familiarity with the DS phenotype among SLPs. Future research on ways to address PM in clients with DS successfully are essential so that EBP guidelines can be established and language therapy can be made more effective. PMID:27150499

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

PubMed

Bassett, Anne S; Lowther, Chelsea; Merico, Daniele; Costain, Gregory; Chow, Eva W C; van Amelsvoort, Therese; McDonald-McGinn, Donna; Gur, Raquel E; Swillen, Ann; Van den Bree, Marianne; Murphy, Kieran; Gothelf, Doron; Bearden, Carrie E; Eliez, Stephan; Kates, Wendy; Philip, Nicole; Sashi, Vandana; Campbell, Linda; Vorstman, Jacob; Cubells, Joseph; Repetto, Gabriela M; Simon, Tony; Boot, Erik; Heung, Tracy; Evers, Rens; Vingerhoets, Claudia; van Duin, Esther; Zackai, Elaine; Vergaelen, Elfi; Devriendt, Koen; Vermeesch, Joris R; Owen, Michael; Murphy, Clodagh; Michaelovosky, Elena; Kushan, Leila; Schneider, Maude; Fremont, Wanda; Busa, Tiffany; Hooper, Stephen; McCabe, Kathryn; Duijff, Sasja; Isaev, Karin; Pellecchia, Giovanna; Wei, John; Gazzellone, Matthew J; Scherer, Stephen W; Emanuel, Beverly S; Guo, Tingwei; Morrow, Bernice E; Marshall, Christian R

2017-11-01

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this study was to identify additional genetic factors (i.e., "second hits") that may contribute to schizophrenia expression. Through an international consortium, the authors obtained DNA samples from 329 psychiatrically phenotyped subjects with 22q11.2DS. Using a high-resolution microarray platform and established methods to assess copy number variation (CNV), the authors compared the genome-wide burden of rare autosomal CNV, outside of the 22q11.2 deletion region, between two groups: a schizophrenia group and those with no psychotic disorder at age ≥25 years. The authors assessed whether genes overlapped by rare CNVs were overrepresented in functional pathways relevant to schizophrenia. Rare CNVs overlapping one or more protein-coding genes revealed significant between-group differences. For rare exonic duplications, six of 19 gene sets tested were enriched in the schizophrenia group; genes associated with abnormal nervous system phenotypes remained significant in a stepwise logistic regression model and showed significant interactions with 22q11.2 deletion region genes in a connectivity analysis. For rare exonic deletions, the schizophrenia group had, on average, more genes overlapped. The additional rare CNVs implicated known (e.g., GRM7, 15q13.3, 16p12.2) and novel schizophrenia risk genes and loci. The results suggest that additional rare CNVs overlapping genes outside of the 22q11.2 deletion region contribute to schizophrenia risk in 22q11.2DS, supporting a multigenic hypothesis for schizophrenia. The findings have implications for understanding expression of psychotic illness and herald the importance of whole-genome sequencing to appreciate the overall genomic architecture of schizophrenia.

Gynecologic issues of adolescents with Down syndrome, autism, and cerebral palsy.

PubMed

Burke, Lori M; Kalpakjian, Claire Z; Smith, Yolanda R; Quint, Elisabeth H

2010-02-01

The gynecologic issues of adolescents with disabilities are understudied. The purpose of this study was to identify and compare the presenting complaints, treatments, and follow-up of adolescent girls with Down syndrome (DS), autism, and cerebral palsy (CP) presenting to a specialized gynecologic clinic for women with developmental disabilities. Outpatient gynecology clinic. Forty four adolescents (<21 y); 13 with DS, 14 with autism, and 17 with CP who presented to the clinic from 1999 to 2006. None. A retrospective review of the electronic medical records to collect data on age at presentation to clinic, ethnicity, menstrual history, chief complaint, treatment, and follow-up. Mean age at presentation to clinic was 15+/-3.5 years, and age of menarche was 12.5+/-2 years; age at menarche did not significantly differ between groups. The most frequent complaints were irregular bleeding (n=10) and mood/behavioral changes (n=6). Girls with autism were significantly (chi(2)=8.89, P=.012) more likely to present with behavioral issues than the other 2 groups. Initial management for the behavior issues in the autism group included nonsteroidal anti-inflammatory drugs (NSAID), oral contraceptives, and education. The most common gynecologic complaints of adolescent girls with DS, autism, and CP centered on menstruation and mood disorders. Patients with autism were more likely to present with behavioral issues related to the onset of periods. Copyright 2010 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Glycogen Phosphorylase and Glycogen Synthase: Gene Cloning and Expression Analysis Reveal Their Role in Trehalose Metabolism in the Brown Planthopper, Nilaparvata lugens Stål (Hemiptera: Delphacidae).

PubMed

Zhang, Lu; Wang, Huijuan; Chen, Jianyi; Shen, Qida; Wang, Shigui; Xu, Hongxing; Tang, Bin

2017-01-01

RNA interference has been used to study insects' gene function and regulation. Glycogen synthase (GS) and glycogen phosphorylase (GP) are two key enzymes in carbohydrates' conversion in insects. Glycogen content and GP and GS gene expression in several tissues and developmental stages of the Brown planthopper Nilaparvata lugens Stål (Hemiptera: Delphacidae) were analyzed in the present study, using quantitative reverse-transcription polymerase chain reaction to determine their response to double-stranded trehalases (dsTREs), trehalose-6-phosphate synthases (dsTPSs), and validamycin injection. The highest expression of both genes was detected in the wing bud, followed by leg and head tissues, and different expression patterns were shown across the developmental stages analyzed. Glycogen content significantly decreased 48 and 72 h after dsTPSs injection and 48 h after dsTREs injection. GP expression increased 48 h after dsTREs and dsTPSs injection and significantly decreased 72 h after dsTPSs, dsTRE1-1, and dsTRE1-2 injection. GS expression significantly decreased 48 h after dsTPS2 and dsTRE2 injection and 72 h after dsTRE1-1 and dsTRE1-2 injection. GP and GS expression and glycogen content significantly decreased 48 h after validamycin injection. The GP activity significantly decreased 48 h after validamycin injection, while GS activities of dsTPS1 and dsTRE2 injection groups were significantly higher than that of double-stranded GFP (dsGFP) 48 h after injection, respectively. Thus, glycogen is synthesized, released, and degraded across several insect tissues according to the need to maintain stable trehalose levels. © The Authors 2017. Published by Oxford University Press on behalf of Entomological Society of America.

Physicochemical, textural and viscoelastic properties of palm diacylglycerol bakery shortening during storage.

PubMed

Cheong, Ling-Zhi; Tan, Chin-Ping; Long, Kamariah; Affandi Yusoff, Mohd Suria; Lai, Oi-Ming

2010-10-01

Diacylglycerol (DAG), which has health-enhancing properties, is sometimes added to bakery shortening to produce baked products with enhanced physical functionality. Nevertheless, the quantity present is often too little to exert any positive healthful effects. This research aimed to produce bakery shortenings containing significant amounts of palm diacyglycerol (PDG). Physicochemical, textural and viscoelastic properties of the PDG bakery shortenings during 3 months storage were evaluated and compared with those of commercial bakery shortening (CS). PDG bakery shortenings (DS55, DS64 and DS73) had less significant increments in slip melting point (SMP), solid fat content (SFC) and hardness during storage as compared to CS. Unlike CS, melting behaviour and viscoelastic properties of PDG bakery shortenings remained unchanged during storage. As for polymorphic transformation, CS contained only β crystals after 8 weeks of storage. PDG bakery shortenings managed to retard polymorphic transformation for up to 10 weeks of storage in DS55 and 12 weeks of storage in DS64 and DS73. PDG bakery shortenings had similar if not better storage stability as compared to CS. This is mainly due to the ability of DAG to retard polymorphic transformation from β' to β crystals. Thus, incorporation of DAG improved physical functionality of bakery shortening. Copyright © 2010 Society of Chemical Industry.

Altered Sense of Body Ownership and Agency in Posttraumatic Stress Disorder and Its Dissociative Subtype: A Rubber Hand Illusion Study.

PubMed

Rabellino, Daniela; Burin, Dalila; Harricharan, Sherain; Lloyd, Chantelle; Frewen, Paul A; McKinnon, Margaret C; Lanius, Ruth A

2018-01-01

Traumatic experiences have been linked to the development of altered states of consciousness affecting bodily perception, including alterations in body ownership and in sense of agency, the conscious experience of the body as one's own and under voluntary control. Severe psychological trauma and prolonged distress may lead to posttraumatic stress disorder (PTSD). Together, symptoms of derealization and, related specifically to the sense of body ownership and agency, of depersonalization (where parts of the body or the entire body itself is perceived as detached and out of control), constitute the dissociative subtype (PTSD+DS). In this study, we explored the Rubber Hand Illusion, an experimental paradigm utilized to manipulate sense of body ownership in PTSD ( n = 4) and PTSD+DS ( n = 6) as compared to healthy controls ( n = 7). Perceived finger location and self-report questionnaires were used as behavioral and subjective measures of the illusion, respectively. In addition, the correlation between the illusion's effect and sense of agency as a continuous feeling of controlling one's own body movements was explored. Here, a lower illusion effect was observed in the PTSD as compared to the control group after synchronous stimulation for both the proprioceptive drift and subjectively perceived illusion. Moreover, by both proprioceptive drift and by subjective ratings, the PTSD+DS group showed a response characterized by high variance, ranging from a very strong to a very weak effect of the illusion. Finally, sense of agency showed a trend toward a negative correlation with the strength of the illusion as subjectively perceived by participants with PTSD and PTSD+DS. These findings suggest individuals with PTSD may, at times, maintain a rigid representation of the body as an avoidance strategy, with top-down cognitive processes weakening the impact of manipulation of body ownership. By contrast, the response elicited in PTSD+DS appeared to be driven by either an increased vulnerability to manipulation of embodiment or by a dominant top-down cognitive representation of the body, with disruption of multisensory integration processes likely in both cases. Taken together, these findings further our understanding of bodily consciousness in PTSD and its dissociative subtype and highlight the supportive role played by sense of agency for the maintenance of body ownership.

Altered Sense of Body Ownership and Agency in Posttraumatic Stress Disorder and Its Dissociative Subtype: A Rubber Hand Illusion Study

PubMed Central

Rabellino, Daniela; Burin, Dalila; Harricharan, Sherain; Lloyd, Chantelle; Frewen, Paul A.; McKinnon, Margaret C.; Lanius, Ruth A.

2018-01-01

Traumatic experiences have been linked to the development of altered states of consciousness affecting bodily perception, including alterations in body ownership and in sense of agency, the conscious experience of the body as one's own and under voluntary control. Severe psychological trauma and prolonged distress may lead to posttraumatic stress disorder (PTSD). Together, symptoms of derealization and, related specifically to the sense of body ownership and agency, of depersonalization (where parts of the body or the entire body itself is perceived as detached and out of control), constitute the dissociative subtype (PTSD+DS). In this study, we explored the Rubber Hand Illusion, an experimental paradigm utilized to manipulate sense of body ownership in PTSD (n = 4) and PTSD+DS (n = 6) as compared to healthy controls (n = 7). Perceived finger location and self-report questionnaires were used as behavioral and subjective measures of the illusion, respectively. In addition, the correlation between the illusion's effect and sense of agency as a continuous feeling of controlling one's own body movements was explored. Here, a lower illusion effect was observed in the PTSD as compared to the control group after synchronous stimulation for both the proprioceptive drift and subjectively perceived illusion. Moreover, by both proprioceptive drift and by subjective ratings, the PTSD+DS group showed a response characterized by high variance, ranging from a very strong to a very weak effect of the illusion. Finally, sense of agency showed a trend toward a negative correlation with the strength of the illusion as subjectively perceived by participants with PTSD and PTSD+DS. These findings suggest individuals with PTSD may, at times, maintain a rigid representation of the body as an avoidance strategy, with top-down cognitive processes weakening the impact of manipulation of body ownership. By contrast, the response elicited in PTSD+DS appeared to be driven by either an increased vulnerability to manipulation of embodiment or by a dominant top-down cognitive representation of the body, with disruption of multisensory integration processes likely in both cases. Taken together, these findings further our understanding of bodily consciousness in PTSD and its dissociative subtype and highlight the supportive role played by sense of agency for the maintenance of body ownership. PMID:29765311

Smoking patterns and stimulus control in intermittent and daily smokers.

PubMed

Shiffman, Saul; Dunbar, Michael S; Li, Xiaoxue; Scholl, Sarah M; Tindle, Hilary A; Anderson, Stewart J; Ferguson, Stuart G

2014-01-01

Intermittent smokers (ITS) - who smoke less than daily - comprise an increasing proportion of adult smokers. Their smoking patterns challenge theoretical models of smoking motivation, which emphasize regular and frequent smoking to maintain nicotine levels and avoid withdrawal, but yet have gone largely unexamined. We characterized smoking patterns among 212 ITS (smoking 4-27 days per month) compared to 194 daily smokers (DS; smoking 5-30 cigarettes daily) who monitored situational antecedents of smoking using ecological momentary assessment. Subjects recorded each cigarette on an electronic diary, and situational variables were assessed in a random subset (n=21,539 smoking episodes); parallel assessments were obtained by beeping subjects at random when they were not smoking (n=26,930 non-smoking occasions). Compared to DS, ITS' smoking was more strongly associated with being away from home, being in a bar, drinking alcohol, socializing, being with friends and acquaintances, and when others were smoking. Mood had only modest effects in either group. DS' and ITS' smoking were substantially and equally suppressed by smoking restrictions, although ITS more often cited self-imposed restrictions. ITS' smoking was consistently more associated with environmental cues and contexts, especially those associated with positive or "indulgent" smoking situations. Stimulus control may be an important influence in maintaining smoking and making quitting difficult among ITS.

[22q11.2DS Syndrome as a Genetic Subtype of Schizophrenia].

PubMed

Huertas-Rodríguez, Cindy Katherin; Payán-Gómez, César; Forero-Castro, Ruth Maribel

2015-01-01

The 22q11.2 deletion syndrome (22q11.2DS) is associated with the microdeletion of this chromosomal region, and represents the second most common genetic syndrome after Down's syndrome. In patients with schizophrenia, 22q11.2DS has a prevalence of 2%, and in selected groups can be increased to between 32-53%. To describe the generalities of 22q11.2DS syndrome as a genetic subtype of schizophrenia, its clinical characteristics, molecular genetic aspects, and frequency in different populations. A review was performed from 1967 to 2013 in scientific databases, compiling articles about 22q11.2DS syndrome and its association with schizophrenia. The 22q11.2 DS syndrome has a variable phenotype associated with other genetic syndromes, birth defects in many tissues and organs, and a high rate of psychiatric disorders, particularly schizophrenia. Likewise, it has been identified in clinical populations with schizophrenia selected by the presence of common syndromic characteristics. FISH, qPCR and MLPA techniques, and recently, aCGH and NGS technologies, are being used to diagnose this microdeletion. It is important in clinical practice to remember that people suffering the 22q11.2DS have a high genetic risk for developing schizophrenia, and it is considered that the simultaneous presence of this disease and 22q11.2DS represents a genetic subtype of schizophrenia. There are clear phenotypic criteria, molecular and cytogenetic methods to diagnose this group of patients, and to optimize a multidisciplinary approach in their monitoring. Copyright © 2014 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Quantification of plasma phosphorylated tau to use as a biomarker for brain Alzheimer pathology: pilot case-control studies including patients with Alzheimer's disease and down syndrome.

PubMed

Tatebe, Harutsugu; Kasai, Takashi; Ohmichi, Takuma; Kishi, Yusuke; Kakeya, Tomoshi; Waragai, Masaaki; Kondo, Masaki; Allsop, David; Tokuda, Takahiko

2017-09-04

There is still a substantial unmet need for less invasive and lower-cost blood-based biomarkers to detect brain Alzheimer's disease (AD) pathology. This study is aimed to determine whether quantification of plasma tau phosphorylated at threonine 181 (p-tau181) is informative in the diagnosis of AD. We have developed a novel ultrasensitive immunoassay to quantify plasma p-tau181, and measured the levels of plasma p-tau181 in three cohorts. In the first cohort composed of 20 AD patients and 15 age-matched controls, the plasma levels of p-tau181 were significantly higher in the AD patients than those in the controls (0.171 ± 0.166 pg/ml in AD versus 0.0405 ± 0.0756 pg/ml in controls, p = 0.0039). The percentage of the subjects whose levels of plasma p-tau181 exceeded the cut-off value (0.0921 pg/ml) was significantly higher in the AD group compared with the control group (60% in AD versus 16.7% in controls, p = 0.0090). In the second cohort composed of 20 patients with Down syndrome (DS) and 22 age-matched controls, the plasma concentrations of p-tau181 were significantly higher in the DS group (0.767 ± 1.26 pg/ml in DS versus 0.0415 ± 0.0710 pg/ml in controls, p = 0.0313). There was a significant correlation between the plasma levels of p-tau181 and age in the DS group (R 2  = 0.4451, p = 0.0013). All of the DS individuals showing an extremely high concentration of plasma p-tau181 (> 1.0 pg/ml) were older than the age of 40. In the third cohort composed of 8 AD patients and 3 patients with other neurological diseases, the levels of plasma p-tau181 significantly correlated with those of CSF p-tau181 (R 2  = 0.4525, p = 0.023). We report for the first time quantitative data on the plasma levels of p-tau181 in controls and patients with AD and DS, and these data suggest that the plasma p-tau181 is a promising blood biomarker for brain AD pathology. This exploratory pilot study warrants further large-scale and well-controlled studies to validate the usefulness of plasma p-tau181 as an urgently needed surrogate marker for the diagnosis and disease progression of AD.

CfDS: a team effort

NASA Astrophysics Data System (ADS)

Mizon, R.

2003-02-01

In 1989, the newly formed BAA Campaign for Dark Skies (CfDS) asked astronomical groups across the UK to nominate members who would actively spread the dark-skies message. Thirty-one 'regional officers' emerged, scattered from Plymouth to near John O'Groats, and from North Wales to the Wash. An unenviable task faced them: a CfDS survey had concluded that more than 90% of British observers, astronomers or not, experienced some degree of skyglow.

Short double-stranded RNAs with an overhanging 5' ppp-nucleotide, as found in arenavirus genomes, act as RIG-I decoys.

PubMed

Marq, Jean-Baptiste; Hausmann, Stéphane; Veillard, Nicolas; Kolakofsky, Daniel; Garcin, Dominique

2011-02-25

Arenavirus RNA genomes are initiated by a "prime and realign" mechanism, such that the initiating GTP is found as a single unpaired (overhanging) nucleotide when the complementary genome ends anneal to form double-stranded (ds) RNA panhandle structures. dsRNAs modeled on these structures do not induce interferon (IFN), as opposed to blunt-ended (5' ppp)dsRNA. This study examines whether these viral structures can also act as decoys, by trapping RIG-I in inactive dsRNA complexes. We examined the ability of various dsRNAs to activate the RIG-I ATPase (presumably a measure of helicase translocation on dsRNA) relative to their ability to induce IFN. We found that there is no simple relationship between these two properties, as if RIG-I can translocate on short dsRNAs without inducing IFN. Moreover, we found that (5' ppp)dsRNAs with a single unpaired 5' ppp-nucleotide can in fact competitively inhibit the ability of blunt-ended (5' ppp)dsRNAs to induce IFN when co-transfected into cells and that this inhibition is strongly dependent on the presence of the 5' ppp. In contrast, (5' ppp)dsRNAs with a single unpaired 5' ppp-nucleotide does not inhibit poly(I-C)-induced IFN activation, which is independent of the presence of a 5' ppp group.

DS-8201a, A Novel HER2-Targeting ADC with a Novel DNA Topoisomerase I Inhibitor, Demonstrates a Promising Antitumor Efficacy with Differentiation from T-DM1.

PubMed

Ogitani, Yusuke; Aida, Tetsuo; Hagihara, Katsunobu; Yamaguchi, Junko; Ishii, Chiaki; Harada, Naoya; Soma, Masako; Okamoto, Hiromi; Oitate, Masataka; Arakawa, Shingo; Hirai, Takehiro; Atsumi, Ryo; Nakada, Takashi; Hayakawa, Ichiro; Abe, Yuki; Agatsuma, Toshinori

2016-10-15

An anti-HER2 antibody-drug conjugate with a novel topoisomerase I inhibitor, DS-8201a, was generated as a new antitumor drug candidate, and its preclinical pharmacologic profile was assessed. In vitro and in vivo pharmacologic activities of DS-8201a were evaluated and compared with T-DM1 in several HER2-positive cell lines and patient-derived xenograft (PDX) models. The mechanism of action for the efficacy was also evaluated. Pharmacokinetics in cynomolgus monkeys and the safety profiles in rats and cynomolgus monkeys were assessed. DS-8201a exhibited a HER2 expression-dependent cell growth-inhibitory activity and induced tumor regression with a single dosing at more than 1 mg/kg in a HER2-positive gastric cancer NCI-N87 model. Binding activity to HER2 and ADCC activity of DS-8201a were comparable with unconjugated anti-HER2 antibody. DS-8201a also showed an inhibitory activity to Akt phosphorylation. DS-8201a induced phosphorylation of Chk1 and Histone H2A.X, the markers of DNA damage. Pharmacokinetics and safety profiles of DS-8201a were favorable and the highest non-severely toxic dose was 30 mg/kg in cynomolgus monkeys, supporting DS-8201a as being well tolerated in humans. DS-8201a was effective in a T-DM1-insensitive PDX model with high HER2 expression. DS-8201a, but not T-DM1, demonstrated antitumor efficacy against several breast cancer PDX models with low HER2 expression. DS-8201a exhibited a potent antitumor activity in a broad selection of HER2-positive models and favorable pharmacokinetics and safety profiles. The results demonstrate that DS-8201a will be a valuable therapy with a great potential to respond to T-DM1-insensitive HER2-positive cancers and low HER2-expressing cancers. Clin Cancer Res; 22(20); 5097-108. ©2016 AACR. ©2016 American Association for Cancer Research.

Dental care access among individuals with Down syndrome: a Malaysian scenario.

PubMed

Abdul Rahim, Farah Salwa; Mohamed, Alizae Marny; Marizan Nor, Murshida; Saub, Roslan

2014-11-01

The purpose of this cross-sectional study was to assess the legal representatives' perceptions on dental care access of individuals with Down syndrome (DS) compared to their non-DS siblings in Peninsular Malaysia. This cross-sectional study was conducted throughout community-based rehabilitation centers (CBRC) and the Down Syndrome Organization. Legal representatives of individuals with DS within the criteria were given a structured and validated questionaire. This study demonstrated that individuals with DS (76.9%) significantly utilized more health services than non-DS siblings (23.1%). The service most regularly used was speech therapy followed by opthalmology and dental services. Twenty-five per cent of respondents reported difficulty in finding dental care services for their DS child and 46.9% admitted that healthcare for their DS child took more time. The majority of DS individuals received less complex dental treatment and none received any orthodontic treatment, despite their severe occlusal problems. A high proportion of parents appear to be able to access dental and medical care for their DS child. However, some parents perceived difficulty in finding oral healthcare.

Synthesis, characterization and antimicrobial activity of dextran sulphate stabilized silver nanoparticles

NASA Astrophysics Data System (ADS)

Cakić, Milorad; Glišić, Slobodan; Nikolić, Goran; Nikolić, Goran M.; Cakić, Katarina; Cvetinov, Miroslav

2016-04-01

Dextran sulphate stabilized silver nanoparticles (AgNPs - DS) were synthesized from aqueous solution of silver nitrate (AgNO3) and dextran sulphate sodium salt (DS). The characterization of AgNPs - DS was performed by ultraviolet-visible spectroscopy (UV-VIS), scanning electron microscopy (SEM), energy dispersive X-ray spectroscopy (EDX), X-ray diffraction (XRD), Fourier transform infrared spectroscopy (FTIR) and antimicrobial activity. The formation of AgNPs - DS was monitored by colour changes of the reaction mixture from yellowish to brown and by measuring the surface plasmon resonance absorption peak in UV-VIS spectra at 420 nm. The SEM analysis was used for size and shape determination of AgNPs - DS. The presence of elemental silver and its crystalline structure in AgNPs - DS were confirmed by EDX and XRD analyses. The possible functional groups of DS responsible for the reduction and stabilization of AgNPs were determinated by FTIR spectroscopy. The AgNPs - DS showed strong antibacterial activity against Staphylococcus aureus ATCC 25923, Bacillus cereus ATCC 11778, Bacillus luteus in haus strain, Bacillus subtilis ATTC 6633, Listeria monocytogenes ATCC 15313, Escherichia coli ATTC 25922, Pseudomonas aeruginosa ATTC 27853, Klebsiella pneumoniae ATTC 700603, Proteus vulgaris ATTC 8427, and antifungal activity against Candida albicans ATTC 2091.

The hippocampi of children with chromosome 22q11.2 deletion syndrome have localized anterior alterations that predict severity of anxiety.

PubMed

Scott, Julia A; Goodrich-Hunsaker, Naomi; Kalish, Kristopher; Lee, Aaron; Hunsaker, Michael R; Schumann, Cynthia M; Carmichael, Owen T; Simon, Tony J

2016-04-01

Individuals with 22q11.2 deletion syndrome (22q11.2DS) have an elevated risk for schizophrenia, which increases with history of childhood anxiety. Altered hippocampal morphology is a common neuroanatomical feature of 22q11.2DS and idiopathic schizophrenia. Relating hippocampal structure in children with 22q11.2DS to anxiety and impaired cognitive ability could lead to hippocampus-based characterization of psychosis-proneness in this at-risk population. We measured hippocampal volume using a semiautomated approach on MRIs collected from typically developing children and children with 22q11.2DS. We then analyzed hippocampal morphology with Localized Components Analysis. We tested the modulating roles of diagnostic group, hippocampal volume, sex and age on local hippocampal shape components. Lastly, volume and shape components were tested as covariates of IQ and anxiety. We included 48 typically developing children and 69 children with 22q11.2DS in our study. Hippocampal volume was reduced bilaterally in children with 22q11.2DS, and these children showed greater variation in the shape of the anterior hippocampus than typically developing children. Children with 22q11.2DS had greater inward deformation of the anterior hippocampus than typically developing children. Greater inward deformation of the anterior hippocampus was associated with greater severity of anxiety, specifically fear of physical injury, within the 22q11.2DS group. Shape alterations are not specific to hippocampal subfields. Alterations in the structure of the anterior hippocampus likely affect function and may impact limbic circuitry. We suggest these alterations potentially contribute to anxiety symptoms in individuals with 22q11.2DS through modulatory pathways. Altered hippocampal morphology may be uniquely linked to anxiety risk factors for schizophrenia, which could be a powerful neuroanatomical marker of schizophrenia risk and hence protection.

SU-F-BRD-02: Incorporating Uncertainty Analysis in Plan Comparison of VMAT, Double Scattering Proton Plan and IMPT for Lung Irradiation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cheng, C; Wessels, B; Mansur, D

2015-06-15

Purpose: We investigate the effect of residual setup and motion errors in lung irradiation for VMAT, double scattering (DS) proton beams and spot scanning (IMPT) in a case study. Methods: The CT image and contour sets of a lung patient treated with 6 MV VMAT is re-planned with DS as well as IMPT subject to the same constraints; V20(lung), V10(lung) and V5(lung)< 15%, 20% and 25% respectively, V20(heart)<25% and V100%(PTV)≥95%. In addition, uncertainty analysis in the form of isocenter shifts (±1–3mm) was incorporated in the DVH calculations to assess the plan robustness. Results: Only the IMPT plan satisfies all themore » specified constraints. The 3D-conformal DS proton plan is able to achieve better sparing of the lung and heart dose compared to VMAT. For the lung, V20, V10 and V5 are 13%, 19% and 25% respectively for IMPT, 18%, 23% and 30% respectively for DS, and 20%, 30% and 42% respectively for VMAT. For heart: 0.6% for IMPT, 2.4% for DS and 30% for VMAT. When incorporating isocenter shifts in DVH calculations, the maximum changes in V20, V10 and V5 for lung are 14%, 21% and 28% respectively for IMPT. The corresponding max changes are19%, 24% and 32% respectively for DS, and 22%, 32% and 44% respectively for VMAT. The largest change occurs in the PTV coverage. For IMPT, V100%(PTV) varies between 88–96%, while V100%(PTV) for VMAT suffers a larger change compared to DS (Δ=5.5% vs 3.3%). Conclusion: While only IMPT satisfies the stringent dose-volume constraints for the lung irradiation, it is not as robust as the 3D conformal DS plan. DS also has better sparing in lung and heart compared to VMAT and similar PTV coverage. By including isocenter shifts in dose-volume calculations in treatment planning of lung, DS appears to be more robust than VMAT.« less

Delivery of lethal dsRNAs in insect diets by branched amphiphilic peptide capsules.

PubMed

Avila, L A; Chandrasekar, R; Wilkinson, K E; Balthazor, J; Heerman, M; Bechard, J; Brown, S; Park, Y; Dhar, S; Reeck, G R; Tomich, J M

2018-03-10

Development of new and specific insect pest management methods is critical for overcoming pesticide resistance and collateral off-target killings. Gene silencing by feeding dsRNA to insects shows promise in this area. Here we described the use of a peptide nano-material, branched amphiphilic peptide capsules (BAPCs), that facilitates cellular uptake of dsRNA by insects through feeding. The insect diets included dsRNA with and without complexation with BAPCs. The selected insect species come from two different orders with different feeding mechanisms: Tribolium castaneum and Acyrthosiphon pisum. The gene transcripts tested (BiP and Armet) are part of the unfolded protein response (UPR) and suppressing their translation resulted in lethality. For Acyrthosiphon pisum, ingestion of BiP-dsRNA associated with BAPCs led to the premature death of the aphids (t 1/2 =4-5days) compared to ingestion of the same amounts of free BiP-dsRNA (t 1/2 =11-12days). Tribolium castaneum was effectively killed using a combination of BiP-dsRNA and Armet-dsRNA complexed with BAPCs; most dying as larvae or during eclosion (~75%). Feeding dsRNA alone resulted in fewer deaths (~30%). The results show that complexation of dsRNA with BAPCs enhanced the oral delivery of dsRNA over dsRNA alone. Copyright © 2018 Elsevier B.V. All rights reserved.

Genetic Contributions to Changes of Fiber Tracts of Ventral Visual Stream in 22q11.2 Deletion Syndrome

PubMed Central

Kikinis, Zora; Makris, Nikos; Finn, Christine T.; Bouix, Sylvain; Lucia, Diandra; Coleman, Michael J.; Tworog-Dube, Erica; Kikinis, Ron; Kucherlapati, Raju; Shenton, Martha E.; Kubicki, Marek

2013-01-01

Patients with 22q11.2 deletion syndrome (22q11.2DS) represent a population at high risk for developing schizophrenia, as well as learning disabilities. Deficits in visuo-spatial memory are thought to underlie some of the cognitive disabilities. Neuronal substrates of visuo-spatial memory include the inferior fronto-occipital fasciculus (IFOF) and the inferior longitudinal fasciculus (ILF), two tracts that comprise the ventral visual stream. Diffusion Tensor Magnetic Resonance Imaging (DT-MRI) is an established method to evaluate white matter (WM) connections in vivo. DT-MRI scans of nine 22q11.2DS young adults and nine matched healthy subjects were acquired. Tractography of the IFOF and the ILF was performed. DT-MRI indices, including Fractional anisotropy (FA) (measure of WM changes), axial diffusivity (AD, measure of axonal changes) and radial diffusivity (RD, measure of myelin changes) of each of the tracts and each group were measured and compared. The 22q11.2DS group showed statistically significant reductions of FA in IFOF in the left hemisphere. Additionally, reductions of AD were found in the IFOF and the ILF in both hemispheres. These findings might be the consequence of axonal changes, which is possibly due to fewer, thinner, or less organized fibers. No changes in RD were detected in any of the tracts delineated, which is in contrast to findings in schizophrenia patients where increases in RD are believed to be indicative of demyelination. We conclude that reduced axonal changes may be key to understanding the underlying pathology of WM leading to the visuo-spatial phenotype in 22q11.2DS. PMID:23612843

Variability in the antioxidant activity of dietary supplements from pomegranate, milk thistle, green tea, grape seed, goji, and acai: effects of in vitro digestion.

PubMed

Henning, Susanne M; Zhang, Yanjun; Rontoyanni, Victoria G; Huang, Jianjun; Lee, Ru-Po; Trang, Amy; Nuernberger, Gloria; Heber, David

2014-05-14

The antioxidant activity (AA) of fruits and vegetables has been thoroughly investigated but less is known about the AA of dietary supplements (DS). We therefore assessed the AA of three to five DS each from pomegranate, milk thistle, green tea, grapes, goji, and acai using four widely used standard methods. The secondary objective was to determine the effects of in vitro digestion on their AA. The AA of the DS prior to digestion ranked as follows: pomegranate > resveratrol > green tea > grape seed > milk thistle and very low in goji and acai with significant group variability in AA. The AA after in vitro simulated digestion of the mouth, stomach, and small intestine compared to undigested supplement was decreased for green tea and grape seed but increased for pomegranate, resveratrol, milk thistle, goji, and acai to various extents. Although polyphenols provide the major antioxidant potency of the tested supplements, our observations indicate that digestion may alter antioxidant properties depending in part on the variations in polyphenol content.

Correlation between the dizziness handicap inventory and balance performance during the acute phase of unilateral vestibulopathy.

PubMed

Son, Eun Jin; Lee, Dong-Hee; Oh, Jeong-Hoon; Seo, Jae-Hyun; Jeon, Eun-Ju

2015-01-01

The dizziness handicap inventory (DHI) is widely used to evaluate self-perceived handicap due to dizziness, and is known to correlate with vestibular function tests in chronic dizziness. However, whether DHI reflects subjective symptoms during the acute phase has not been studied. This study aims to investigate the correlations of subjective and objective measurements to highlight parameters that reflect the severity of dizziness during the first week of acute unilateral vestibulopathy. Thirty-seven patients with acute unilateral vestibulopathy were examined. Patients' subjective perceptions of dizziness were measured using the DHI, Vertigo Visual Analog Scale (VVAS), Disability Scale (DS), and Activity-Specific Balance Scale (ABC). Additionally, the oculomotor tests, Romberg and sharpened Romberg tests, functional reach test, and dynamic visual acuity tests were performed. The correlation between the DHI and other tests was evaluated. DHI-total scores exhibited a moderately positive correlation with VVAS and DS, and a moderately negative correlation with ABC. However, DHI-total score did not correlate with results of the Romberg, sharpened Romberg, or functional reach tests. When compared among four groups divided according to DHI scores, VVAS and DS scores exhibited statistically significant differences, but no significant differences were detected for other test results. Our findings revealed that the DHI correlated significantly with self-perceived symptoms measured by VVAS and DS, but not ABC. There was no significant correlation with other balance function tests during the first week of acute vestibulopathy. The results suggest that DHI, VVAS and DS may be more useful to measure the severity of acute dizziness symptoms. Copyright © 2015 Elsevier Inc. All rights reserved.

Danshen injection as adjuvant treatment for unstable angina pectoris: A systematic review and meta-analysis.

PubMed

Wu, Jia-Rui; Liu, Shi; Zhang, Xiao-Meng; Zhang, Bing

2017-04-01

To systematically evaluate the clinical effectiveness and safety of Danshen Injection (, DS) as one adjuvant treatment for conventional therapy with Western medicine (WM) for unstable angina pectoris (UAP). Using literature databases, a thorough and systematic retrieval of randomized controlled trials (RCTs) comparing DS plus WM with WM was conducted from inception to April 2015. The extracted data from included studies was analyzed by Review Manager 5.2 software. The Cochrane risk of bias tool was used to assess the quality of included studies, and Begg's and Egger's tests conducted by Stata 12.0 were used to evaluate the potential presence of publication bias. A total of 17 RCTs, which involving 1,433 participants, were identified and reviewed. The meta-analysis indicated that the combined use of DS and WM was significantly superior to WM alone for UAP in terms of the total effectiveness rate of angina pectoris [risk ratio (RR) =1.23, 95% confidence interval (CI): 1.17, 1.29, P<0.01] and the total effectiveness rate of electrocardiogram (ECG) [RR=1.18, 95%CI: 1.06, 1.30, P=0.001]. Additionally, DS could also further reduce the content of fibrinogen, adjust blood lipid level, correct T wave inversion, and so on. Fifteen adverse drug reactions were reported in two studies, Four of which appeared in the experimental group. Based on the systematic review, the combined use of DS and WM was more effective than WM alone, it can be further widely used in clinic, however, there was no exact conclusion for its safety.

Weekly iron as a safe alternative to daily supplementation for nonanemic pregnant women.

PubMed

Casanueva, Esther; Viteri, Fernando E; Mares-Galindo, Mónica; Meza-Camacho, Carlos; Loría, Alvar; Schnaas, Lourdes; Valdés-Ramos, Roxana

2006-07-01

We undertook this study to compare the effectiveness and safety of antenatal daily and weekly supplementation with iron, folic acid, and vitamin B(12) in healthy, pregnant women who were not anemic at gestational week 20. Women with singleton pregnancies and blood hemoglobin (Hb) >115 g/L at gestational week 20 (equivalent to 105 g/L at sea level) were randomly assigned to two groups, one consuming one tablet containing 60 mg iron, 200 mug folic acid and 1 mug vitamin B(12) daily (DS, n = 56); the other consuming two tablets once weekly (WS, n = 60). Blood Hb and serum ferritin concentrations were measured every 4 weeks from weeks 20 to 36, and pregnancy outcomes were evaluated. Mild anemia and hypoferritinemia throughout pregnancy occurred less frequently in DS than WS. None of the 116 women had Hb concentrations <103 g/L at any evaluation point. In contrast, hemoconcentration (Hb >145 g/L) from gestational week 28 onwards occurred in 11% in DS and 2% in WS. We observed ex post facto that hemoconcentration at gestational week 28 was associated with a significantly higher relative risk of low birth weight (RR 6.23, 95% CI 1.46-26.57) and premature delivery (RR 7.78, 95% CI 1.45-24.74). In women who were nonanemic at gestational week 20, both schemes (DS and WS) prevented the occurrence of Hb levels <100 g/L. DS women had a higher incidence of hemoconcentration. Hemoconcentration was associated with increased risk of low birth weight and premature delivery.

Feeding value of whole raw soya beans as a protein supplement for beef cattle consuming low-quality forages.

PubMed

Arelovich, H M; Lagrange, S; Torre, R; Martinez, M F; Laborde, H E

2018-02-01

Experiments (Exp) I and II were conducted to compare raw whole soya beans (WSB), roasted (rWSB) or other protein sources as supplements of low-quality forages fed ad libitum to beef cattle, upon DM intake (DMI), ruminal and blood parameters, and animal performance. Exp I: treatments for wheat straw fed to four ruminally cannulated steers were (i) Control-WS: no supplement; (ii) WSB-WS: whole soya beans; (iii) rWSB-WS: roasted WSB; and (iv) SBM-WS: soybean meal-wheat midds mixture; all fed at 1.4 kg DM/day. Exp II: 12 steers grazed deferred grain sorghum (DS) receiving these treatments: (i) Control-DS: no supplement; (ii) WSB-DS: 1.26 kg DM/day whole soya beans; and (iii) SFM-DS: 1.35 kg DM/day of sunflower meal. In Exp I, WS DMI resulted 47, 52 and 41% greater for WSB-WS, rWSB-WS and SBM-WS, respectively, than Control-WS (p < .05). In Exp II, the DMI of DS was unaffected by supplementation; a substitution of DS by supplement was found for WSB-DS (p < .05); however, total diet and digestible DMI increased with supplementation (p < .05). Rumen pH in Exp I remained unaffected by supplementation, but N-NH 3 as well as blood urea-N in Exp II increased (p < .05). In Exp II, average daily weight gains improved similarly with both supplements compared with Control-DS. Additionally, feed-to-gain ratio decreased (p < .05), being lower for WSB-DS (8.3) vs. SFM-DS (9.9). Roasting effects of WSB as a supplement for low-quality forages were not detected, and all protein sources increased total diet DMI and forage utilization. Only moderate cattle weight gains could be expected for unsupplemented DS. © 2017 Blackwell Verlag GmbH.

Effectiveness of Hexetidine 0.1% Compared to Chlorhexidine Digluconate 0.12% in Eliminating Candida Albicans Colonizing Dentures: A Randomized Clinical In Vivo Study.

PubMed

Aoun, Georges; Saadeh, Maria; Berberi, Antoine

2015-08-01

Denture hygiene is an important factor in the prevention and treatment of denture stomatitis (DS). This study aimed to evaluate the efficacy of two different mouthwashes (chlorhexidine digluconate 0.12% and hexetidine 0.1%) in eliminating Candida albicans on dentures. A total of 60 denture wearers (20 men, 40 women; age range 40-80 years) with clinical evidence of DS were randomly divided into 2 test groups and 1 control group. The dentures of each test group were treated by immersion in one of the two mouthwashes while those of the control group were immersed in distilled water. Swab samples from the palatal surfaces of the upper dentures were collected before and after of cleaner use and examined mycologically. Reduction in the number of colony-forming units of Candida albicans after immersion of the dentures with chlorhexidine digluconate 0.12% was significantly greater than that of the group using hexetidine 0.1% and those of the control group. Hexetidine 0.1% solution tested for the first time as a product of disinfection of the acrylic dentures showed average results after immersion of 8 night hours for 4 days and was less effective than chlorhexidine digluconate 0.12%.

Mental Illness, Behavior Problems, and Social Behavior in Adults with Down Syndrome

ERIC Educational Resources Information Center

Straccia, Claudio; Baggio, Stéphanie; Barisnikov, Koviljka

2014-01-01

Little is known about the behavioral characteristics of adults with Down syndrome (DS) without dementia. The main purpose of this study was to investigate the psychopathology and social behavior among adults with DS compared to adults with nonspecific intellectual disability (NSID). Thirty-four adults with DS were individually matched with 34…

The Effects of Spatial Diversity and Imperfect Channel Estimation on Wideband MC-DS-CDMA and MC-CDMA

DTIC Science & Technology

2009-10-01

In our previous work, we compared the theoretical bit error rates of multi-carrier direct sequence code division multiple access (MC- DS - CDMA ) and...consider only those cases where MC- CDMA has higher frequency diversity than MC- DS - CDMA . Since increases in diversity yield diminishing gains, we conclude

Postural Strategies in Prader-Willi and Down Syndrome Patients

ERIC Educational Resources Information Center

Cimolin, Veronica; Galli, Manuela; Grugni, Graziano; Vismara, Luca; Precilios, Helmer; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

2011-01-01

Patients affected by Down (DS) and Prader-Willi syndrome (PWS) are characterised by some common clinical and functional features including gait disorders and reduced postural control. The aim of our study was to quantitatively compare postural control in adult PWS and DS. We studied 12 PWS and 19 DS adult patients matched for age, height, weight…

Hydrophobically modified chitosan: a bio-based material for antimicrobial active film.

PubMed

Inta, Orathai; Yoksan, Rangrong; Limtrakul, Jumras

2014-09-01

The objective of the present research was to improve the hydrophobicity of chitosan, while retaining its antibacterial activity, through the grafting of dodecenyl succinyl chains onto phthaloyl chitosan, mainly at the C-6 position. Dodecenyl succinylated phthaloyl chitosan (DS-g-PHCTS) was synthesized via phthaloylation-dodecenyl succinylation-hydrazinolysis. The obtained derivatives were characterized by FTIR, (1)H NMR and XRD. Hydrazinolysis time was found to be a key factor in controlling the substitution of dodecenyl succinyl chains and phthalimido groups of the final product. DS-g-PHCTS - with a grafting degree of dodecenyl succinyl chains and a substitution degree of phthalimido groups of 0.73 and 0.39, respectively - exhibited an anhydrous crystal structure and the same solubility behavior as native chitosan. The introduction of hydrophobic alkyl chains provided DS-g-PHCTS with enhanced antibacterial activity against Gram-positive bacteria. In addition, DS-g-PHCTS film showed more effective bacterial growth inhibition and better water vapor barrier property under neutral pH condition than chitosan film. The results suggested that DS-g-PHCTS film could be potentially used as antibacterial active film. Copyright © 2014 Elsevier B.V. All rights reserved.

Anti-nucleosome antibodies in patients with systemic lupus erythematosus: potential utility as a diagnostic tool and disease activity marker and its comparison with anti-dsDNA antibody.

PubMed

Saigal, Renu; Goyal, Laxmi Kant; Agrawal, Abhishek; Mehta, Archna; Mittal, Pradeep; Yadav, R N; Meena, P D; Wadhvani, Dilip

2013-06-01

To compare the utility of anti-nucleosome antibodies and anti-dsDNA antibodies in diagnosis of Systemic Lupus Erythematosus (SLE) and as a marker of disease activity. This is a hospital based observational study among 40 (37 females and 3 males) selected cases of SLE (> or = 4 ACR criteria) and 80 control. 40 cases of other systemic autoimmune disease (SAD) [e g. 29 cases of Rheumatoid arthritis, 4 cases of Systemic sclerosis/scleroderma, 4 cases of Sjögren syndrome, 3 cases of MCTD and 40 Healthy blood were taken as control. From each patient venous blood samples were collected and submitted for anti-nucleosome and anti-dsDNA antibodies assay by enzyme linked immunosorbent assay (ELISA). Anti-nucleosome antibodies were positive in 19 (47.5%) SLE, 02 (05%) other SAD and none of the healthy persons. Anti dsDNA antibodies were positive in 15 (37.5%) SLE patients, 07 (17.5%) other SAD and 01(2.5%) healthy persons. For diagnosis of SLE, sensitivity of anti-ds DNA and anti-nucleosome antibody was found to be 37.5% and 47.50% respectively. The specificity of anti-nucleosome was 100% and that of anti-dsDNA was 97.50%. So, anti-nucleosome antibody test is more specific and more sensitive for diagnosis of SLE than anti-dsDNA. When SLE cases were compared with SAD, sensitivity of anti-dsDNA and anti-nucleosome antibody, for diagnosis of SLE, found to be 37.50% and 47.50% respectively but the specificity of anti-nucleosome was 95% and that of anti-dsDNA was 82.50%. Both antibodies show positive correlation with SLEDAI score .The correlation coefficient was stronger for anti-dsDNA antibodies (r = +0.550, P = < .001) than anti-nucleosome antibodies (r = +0.332, P = < .05) CONCLUSIONS: Anti-nucleosome antibodies show higher positivity than anti-dsDNA antibodies among SLE than other SAD and healthy population. Anti-nucleosome antibodies are more sensitive and specific for the diagnosis of SLE than anti-dsDNA antibodies. Anti-nucleosome and anti-dsDNA both show positive correlation with SLEDAI. But anti-dsDNA antibodies show stronger correlation with SLEDAI than anti-nucleosome. So, anti-nucleosome antibodies can be used as an additional marker for diagnosis of SLE and SLE disease activity.

Stereotactic body radiation therapy planning with duodenal sparing using volumetric-modulated arc therapy vs intensity-modulated radiation therapy in locally advanced pancreatic cancer: A dosimetric analysis

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kumar, Rachit; Wild, Aaron T.; Ziegler, Mark A.

2013-10-01

Stereotactic body radiation therapy (SBRT) achieves excellent local control for locally advanced pancreatic cancer (LAPC), but may increase late duodenal toxicity. Volumetric-modulated arc therapy (VMAT) delivers intensity-modulated radiation therapy (IMRT) with a rotating gantry rather than multiple fixed beams. This study dosimetrically evaluates the feasibility of implementing duodenal constraints for SBRT using VMAT vs IMRT. Non–duodenal sparing (NS) and duodenal-sparing (DS) VMAT and IMRT plans delivering 25 Gy in 1 fraction were generated for 15 patients with LAPC. DS plans were constrained to duodenal D{sub max} of<30 Gy at any point. VMAT used 1 360° coplanar arc with 4° spacingmore » between control points, whereas IMRT used 9 coplanar beams with fixed gantry positions at 40° angles. Dosimetric parameters for target volumes and organs at risk were compared for DS planning vs NS planning and VMAT vs IMRT using paired-sample Wilcoxon signed rank tests. Both DS VMAT and DS IMRT achieved significantly reduced duodenal D{sub mean}, D{sub max}, D{sub 1cc}, D{sub 4%}, and V{sub 20} {sub Gy} compared with NS plans (all p≤0.002). DS constraints compromised target coverage for IMRT as demonstrated by reduced V{sub 95%} (p = 0.01) and D{sub mean} (p = 0.02), but not for VMAT. DS constraints resulted in increased dose to right kidney, spinal cord, stomach, and liver for VMAT. Direct comparison of DS VMAT and DS IMRT revealed that VMAT was superior in sparing the left kidney (p<0.001) and the spinal cord (p<0.001), whereas IMRT was superior in sparing the stomach (p = 0.05) and the liver (p = 0.003). DS VMAT required 21% fewer monitor units (p<0.001) and delivered treatment 2.4 minutes faster (p<0.001) than DS IMRT. Implementing DS constraints during SBRT planning for LAPC can significantly reduce duodenal point or volumetric dose parameters for both VMAT and IMRT. The primary consequence of implementing DS constraints for VMAT is increased dose to other organs at risk, whereas for IMRT it is compromised target coverage. These findings suggest clinical situations where each technique may be most useful if DS constraints are to be employed.« less

Improvements in manual dexterity relate to improvements in cognitive planning after assisted cycling therapy (ACT) in adolescents with down syndrome.

PubMed

Holzapfel, Simon D; Ringenbach, Shannon D R; Mulvey, Genna M; Sandoval-Menendez, Amber M; Cook, Megan R; Ganger, Rachel O; Bennett, Kristen

2015-01-01

We have previously reported beneficial effects of acute (i.e., single session) Assisted Cycling Therapy (ACT) on manual dexterity and cognitive planning ability in adolescents with Down syndrome (DS). In the present study, we report the chronic effects of eight weeks of ACT, voluntary cycling (VC), and no cycling (NC), on the same measures in adolescents with DS. Participants completed 8 weeks of ACT, VC, or NC. Those in the ACT and VC groups completed 30min sessions three times per week on a stationary bicycle. During ACT, the mechanical motor of the bicycle augmented the cadence to a rate which was on average 79% faster than the voluntary cadence. During VC, the participants pedaled at a self-selected rate. Unimanual dexterity scores as measured with the Purdue Pegboard test (PPT) improved significantly more for the ACT and VC groups compared to the NC group. ACT lead to greater improvements than VC and NC in the assembly sub-test, which is a task that requires more advanced temporal and spatial processing. The ACT group improved significantly more than the VC group and non-significantly more than the NC group in cognitive planning ability as measured by the Tower of London test (ToL). There were also significant correlations between the assembly subtest of the PPT and all measures of the ToL. These correlations were stronger during post-testing than pre-testing. Pre-post changes in the combined PPT score and ToL number of correct moves correlated positively in the ACT group. These results support the efficacy of the salutary effects of ACT on global fine motor function and executive function in DS. Additionally, the performance on complex bimanual dexterity tasks appears to be related to the capacity of cognitive planning ability. This research has important implications for persons with movement deficits that affect activities of daily living. Copyright © 2015 Elsevier Ltd. All rights reserved.

Safety and Efficacy of Switching Anticoagulation to Aspirin Three Months after Successful Radiofrequency Catheter Ablation of Atrial Fibrillation

PubMed Central

Uhm, Jae-Sun; Won, Hoyoun; Joung, Boyoung; Nam, Gi-Byoung; Choi, Kee-Joon; Lee, Moon-Hyoung; Kim, You-Ho

2014-01-01

Purpose Although current guidelines recommend continuing the same antithrombotic strategy regardless of rhythm control after radiofrequency catheter ablation (RFCA) of atrial fibrillation (AF), anticoagulation has a risk of major bleeding. We evaluated the safety of switching warfarin to aspirin in patients with successful AF ablation. Materials and Methods Among 721 patients who underwent RFCA of AF, 608 patients (age, 57.3±10.9 years; 77.0% male, 75.5% paroxysmal AF) who had no evidence of AF recurrence at 3 months post-RFCA were included. We compared the thromboembolic and hemorrhagic events in patients for whom warfarin was switched to aspirin (ASA group; n=296) and patients who were kept on warfarin therapy (W group; n=312). Results There were no significant differences in CHA2DS2-VASc or HAS-BLED scores between the groups. In 30 patients in the ASA group and 37 patients in W group, AF recurred and warfarin was restarted or maintained during the 18.0±12.2 months of follow-up. There were no significant differences in thromboembolic (0.3% vs. 1.0%, p=0.342) and major bleeding incidences (0.7% vs. 0.6%, p=0.958) between ASA and W groups during the follow-up period. In the 259 patients with a CHA2DS2-VASc score ≥2, there were no significant differences in thromboembolism (0.8% and 2.2%, p=0.380) or major bleeding incidences (0.8% and 1.4%, p=0.640) between ASA and W groups. Conclusion Switching warfarin to aspirin 3 months after successful RFCA of AF could be as safe and efficacious as long-term anticoagulation even in patients with CHA2DS2-VASc score ≥2. However, strict rhythm monitoring cannot be overemphasized. PMID:25048480

Evaluation of solar sludge drying alternatives by costs and area requirements.

PubMed

Kurt, Mayıs; Aksoy, Ayşegül; Sanin, F Dilek

2015-10-01

Thermal drying is a common method to reach above 90% dry solids content (DS) in sludge. However, thermal drying requires high amount of energy and can be expensive. A greenhouse solar dryer (GSD) can be a cost-effective substitute if the drying performance, which is typically 70% DS, can be increased by additional heat. In this study feasibility of GSD supported with solar panels is evaluated as an alternative to thermal dryers to reach 90% DS. Evaluations are based on capital and O&M costs as well as area requirements for 37 wastewater treatment plants (WWTPs) with various sludge production rates. Costs for the supported GSD system are compared to that of conventional and co-generation thermal dryers. To calculate the optimal costs associated with the drying system, an optimization model was developed in which area limitation was a constraint. Results showed that total cost was minimum when the DS in the GSD (DS(m,i)) was equal to the maximum attainable value (70% DS). On average, 58% of the total cost and 38% of total required area were associated with the GSD. Variations in costs for 37 WWTPs were due to differences in initial DS (DS(i,i)) and sludge production rates, indicating the importance of dewatering to lower drying costs. For large plants, GSD supported with solar panels provided savings in total costs especially in long term when compared to conventional and co-generation thermal dryers. Copyright © 2015 Elsevier Ltd. All rights reserved.

Sleep problems and temperament in young children with Down syndrome and typically developing controls.

PubMed

Lukowski, A F; Milojevich, H M

2017-03-01

Although group differences have been found between children with Down syndrome (DS) and typically developing (TD) children when considering sleep problems and temperament independently, none of the research conducted to date has examined sleep-temperament associations in children with DS. The present research was conducted to determine (1) whether the sleep problems experienced by children with DS are associated with temperament or (2) if the demonstrated relations between sleep and temperament differ from those that are observed in TD children. The present study included examination of relations between parent-reported sleep problems and temperament in 19 children with DS and 20 TD controls matched on developmental age. The results revealed group differences in temperament and sleep problems. Mediation models indicated that temperament (effortful control and inhibitory control) mediated the association between group and sleep problems; sleep problems also mediated the association between group and temperament (effortful and inhibitory control). Findings indicated that sleep problems may serve as both cause and consequence of variability in effortful and inhibitory control and provide insight as to future experimental studies that should be conducted to better elucidate these relations. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Demographic, Lifestyle Factors, and Reasons for Use of Dietary Supplements by Air Force Personnel.

PubMed

Austin, Krista G; Price, Lori Lyn; McGraw, Susan M; Leahy, Guy; Lieberman, Harris R

2016-07-01

Dietary supplement (DS) use is common among U.S. Army personnel to purportedly improve health, provide energy, and increase strength. However, a comprehensive analysis of DS use among U.S. Air Force (USAF) personnel has not been conducted using the same survey instrument, which would permit direct comparisons to DS use by Army personnel. A standardized questionnaire was used to assess DS use, demographic factors, and reasons for use of DS by USAF personnel (N = 1750). Logistic regression models adjusted for age, sex, and rank were used to determine relationships among categories of DS (multivitamin and multimineral, individual vitamins and minerals, protein/amino acid supplements, combination products, herbal supplements, purported steroid analogs, and other) and demographic factors. Findings were compared to reports from other military services and civilian populations. DS were used by 68% of USAF personnel: 35% used 1-2 DS ≥ 1 time/wk, 13% 3-4 DS ≥ 1 time/wk, and 20% ≥ 5 DS ≥ 1 time/wk. There were 45% of personnel who used a multivitamin and mineral, 33% protein supplements, 22% individual vitamins/minerals, 22% combination products, and 7% herbals. Logistic regression demonstrated aerobic exercise duration and strength training were associated with increased DS use. Individuals who previously deployed were more likely to use DS. Like Army personnel, college students and athletes, USAF personnel use more DS than the general population and are more likely to use purported performance enhancing DS, such as protein supplements, and concurrently consume multiple DS. Austin KG, Price LL, McGraw SM, Leahy G, Lieberman HR. Demographic, lifestyle factors, and reasons for use of dietary supplements by Air Force personnel. Aerosp Med Hum Perform. 2016; 87(7):628-637.

Adaptive behaviour of Chinese boys with fragile X syndrome.

PubMed

Zhu, Z; Li, W; Zhan, J; Hu, L; Wu, L; Zhao, Z

2016-01-01

Adaptive behaviour is closely related to quality of life in children with intellectual disability (ID), but little is known about the adaptive behaviour of children with fragile X syndrome (FXS) in China. In boys with FXS, the adaptive behaviours in six domains, including self-dependence, locomotion, work skills, communication, socialisation and self-management, were assessed by the Infants-Junior Middle School Students Social-life Abilities Scale. In addition, we compared the adaptive skills of boys with FXS to those of three control groups of boys, including boys with Down syndrome (DS) and typically developing (TD) boys matched by chronological age (CA) or mental age (MA). The profile of the adaptive behaviour of boys with FXS is discussed in detail. Compared to boys with DS, boys with FXS obtained lower scores in three domains in adaptive behaviour, including work skills, socialisation and self-management skills; boys with FXS had better scores in self-dependence and locomotion skills than boys matched for MA; as expected, boys with FXS had significantly poorer adaptive skills in all six domains assessed compared to CA boys. The development of adaptive skills in boys with FXS was worse than that of boys with DS. The profile of the adaptive behaviour of boys with FXS establishes a basis for the development of targeted interventions to promote social development in this population. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

SLAP deficiency decreases dsDNA autoantibody production

PubMed Central

Peterson, Lisa K.; Pennington, Luke F.; Shaw, Laura A.; Brown, Meredith; Treacy, Eric C.; Friend, Samantha F.; Hatlevik, Øyvind; Rubtsova, Kira; Rubtsov, Anatoly V.; Dragone, Leonard L.

2014-01-01

Src-like adaptor protein (SLAP) adapts c-Cbl, an E3 ubiquitin ligase, to activated components of the BCR signaling complex regulating BCR levels and signaling in developing B cells. Based on this function, we asked whether SLAP deficiency could decrease the threshold for tolerance and eliminate development of autoreactive B cells in two models of autoantibody production. First, we sensitized mice with a dsDNA mimetope that causes an anti-dsDNA response. Despite equivalent production of anti-peptide antibodies compared to BALB/c controls, SLAP−/− mice did not produce anti-dsDNA. Second, we used the 56R tolerance model. SLAP−/− 56R mice had decreased levels of dsDNA-reactive antibodies compared to 56R mice due to skewed light chain usage. Thus, SLAP is a critical regulator of B-cell development and function and its deficiency leads to decreased autoreactive B cells that are otherwise maintained by inefficient receptor editing or failed negative selection. PMID:24440645

SLAP deficiency decreases dsDNA autoantibody production.

PubMed

Peterson, Lisa K; Pennington, Luke F; Shaw, Laura A; Brown, Meredith; Treacy, Eric C; Friend, Samantha F; Hatlevik, Øyvind; Rubtsova, Kira; Rubtsov, Anatoly V; Dragone, Leonard L

2014-02-01

Src-like adaptor protein (SLAP) adapts c-Cbl, an E3 ubiquitin ligase, to activated components of the BCR signaling complex regulating BCR levels and signaling in developing B cells. Based on this function, we asked whether SLAP deficiency could decrease the threshold for tolerance and eliminate development of autoreactive B cells in two models of autoantibody production. First, we sensitized mice with a dsDNA mimetope that causes an anti-dsDNA response. Despite equivalent production of anti-peptide antibodies compared to BALB/c controls, SLAP(-/-) mice did not produce anti-dsDNA. Second, we used the 56R tolerance model. SLAP(-/-) 56R mice had decreased levels of dsDNA-reactive antibodies compared to 56R mice due to skewed light chain usage. Thus, SLAP is a critical regulator of B-cell development and function and its deficiency leads to decreased autoreactive B cells that are otherwise maintained by inefficient receptor editing or failed negative selection. Copyright © 2013 Elsevier Inc. All rights reserved.

Lifestyle Factors and Alzheimer's Disease in People with Down Syndrome

ERIC Educational Resources Information Center

Kenshole, Athena V.; Gallichan, Deanna; Pahl, Sabine; Clibbens, John

2017-01-01

Background: Lifestyle has previously been associated with the onset of Alzheimer's disease (AD) in the typically developing population, but research investigating this association in Down syndrome (DS) is limited. Method: Adults with DS and AD (n = 27) were compared to adults with DS without AD (n = 30) on physical activity, diet, weight, where…

Region and Domain Dependent Action of Nomifensine

PubMed Central

Shu, Zhan; Taylor, I. Mitch; Walters, Seth H.; Michael, Adrian C.

2014-01-01

The dopamine (DA) terminal fields in the rat dorsal striatum (DS) and nucleus accumbens core (NAcc) are organized as patchworks of domains that exhibit distinct kinetics of DA release and clearance. The present study used fast-scan cyclic voltammetry recordings of electrically evoked DA overflow to test the hypothesis that nomifensine might exhibit domain-dependent actions within the NAcc, as we previously found to be the case within the DS. Within the NAcc, nomifensine preferentially enhanced evoked dopamine overflow in the slow compared to the fast domains. To seek a kinetic explanation for nomifensine’s selective actions, we quantified the apparent KM of DA clearance by numerically evaluating the derivative of the descending phase of the DA signal after the end of the stimulus. For comparison, we likewise quantified apparent KM in the domains of the DS. As expected because it is a competitive inhibitor, nomifensine significantly increased the apparent KM in both the fast and slow domains of both the NAcc and DS. However, our analysis also leads to the novel finding that nomifensine preferentially increases the apparent KM in the NAcc compared to the DS: apparent KM increased by ~500% in the NAcc and ~200% in the DS. PMID:24766210

Consistency and reliability of judgements by assessors of case based discussions in general practice specialty training programmes in the United Kingdom.

PubMed

Bodgener, Susan; Denney, Meiling; Howard, John

2017-01-01

Case based discussions (CbDs) are a mandatory workplace assessment used throughout general practitioner (GP) specialty training; they contribute to the annual review of competence progression (ARCP) for each trainee. This study examined the judgements arising from CbDs made by different groups of assessors and whether or not these assessments supported ARCP decisions. The trainees selected were at the end of their first year of GP training and had been identified during their ARCPs to need extra training time. CbDs were specifically chosen as they are completed by both hospital and GP supervisors, enabling comparison between these two groups. The results raise concern with regard to the consistency of judgements made by different groups of assessors, with significant variance between assessors of different status and seniority. Further work needs to be done on whether the CbD in its current format is fit for purpose as one of the mandatory WPBAs for GP trainees, particularly during their hospital placements. There is a need to increase the inter-rater reliability of CbDs to ensure a consistent contribution to subsequent decisions about a trainee's overall progress.

Autoantibodies associated with RNA are more enriched than anti-dsDNA antibodies in circulating immune complexes in SLE.

PubMed

Ahlin, E; Mathsson, L; Eloranta, M-L; Jonsdottir, T; Gunnarsson, I; Rönnblom, L; Rönnelid, J

2012-05-01

To what extent different autoantibodies accumulate in systemic lupus erythematosus (SLE) immune complexes (ICs), and whether such accumulation is associated with disease activity has been investigated. ICs were isolated from SLE sera by both polyethylene glycol (PEG) precipitation and C1q-binding. Autoantibody specificities were determined using a lineblot assay quantified by densitometry. To compare the relative levels of autoantibodies, levels were normalized to the total levels of IgG measured by ELISA in sera and parallel ICs. Samples were investigated both in a cross-sectional design as well as in a paired design with samples obtained during both active and inactive SLE. All investigated autoantibody specificities except anti-dsDNA were enriched in circulating ICs as compared with parallel sera. The group of antibodies against RNA-associated antigens (anti-RNP/Sm, anti-Sm, anti-SSA/Ro60, anti-SSA/Ro52, anti-SSB/La) all exhibited higher median enrichment than the DNA-associated (anti-dsDNA, anti-histones, anti-nucleosomes) or cytoplasmic (anti-ribosomal P) antigens. In particular autoantibodies against RNP/Sm and SSA/Ro52 had the highest degree of enrichment in SLE PEG precipitates. These findings were corroborated by analysis of autoantibody content in C1q-bound ICs. There was no difference in degree of IC accumulation of the investigated autoantibodies during active and inactive SLE. Our findings demonstrate a difference in enrichment between autoantibodies against RNA- and DNA-associated autoantigens in isolated SLE IC, suggesting that the RNA-associated autoantibodies are more prone to form circulating ICs in SLE, in contrast to antibodies against DNA-associated autoantigens such as dsDNA. These finding have implications in understanding mechanisms of differential autoantibody accumulation in target organs in SLE.

Altered auditory processing and effective connectivity in 22q11.2 deletion syndrome.

PubMed

Larsen, Kit Melissa; Mørup, Morten; Birknow, Michelle Rosgaard; Fischer, Elvira; Hulme, Oliver; Vangkilde, Anders; Schmock, Henriette; Baaré, William Frans Christiaan; Didriksen, Michael; Olsen, Line; Werge, Thomas; Siebner, Hartwig R; Garrido, Marta I

2018-01-30

22q11.2 deletion syndrome (22q11.2DS) is one of the most common copy number variants and confers a markedly increased risk for schizophrenia. As such, 22q11.2DS is a homogeneous genetic liability model which enables studies to delineate functional abnormalities that may precede disease onset. Mismatch negativity (MMN), a brain marker of change detection, is reduced in people with schizophrenia compared to healthy controls. Using dynamic causal modelling (DCM), previous studies showed that top-down effective connectivity linking the frontal and temporal cortex is reduced in schizophrenia relative to healthy controls in MMN tasks. In the search for early risk-markers for schizophrenia we investigated the neural basis of change detection in a group with 22q11.2DS. We recorded high-density EEG from 19 young non-psychotic 22q11.2 deletion carriers, as well as from 27 healthy non-carriers with comparable age distribution and sex ratio, while they listened to a sequence of sounds arranged in a roving oddball paradigm. Despite finding no significant reduction in the MMN responses, whole-scalp spatiotemporal analysis of responses to the tones revealed a greater fronto-temporal N1 component in the 22q11.2 deletion carriers. DCM showed reduced intrinsic connection within right primary auditory cortex as well as in the top-down, connection from the right inferior frontal gyrus to right superior temporal gyrus for 22q11.2 deletion carriers although not surviving correction for multiple comparison. We discuss these findings in terms of reduced adaptation and a general increased sensitivity to tones in 22q11.2DS. Copyright © 2018. Published by Elsevier B.V.

Mass Balance of the West Antarctic Ice-Sheet from ICESat Measurements

NASA Technical Reports Server (NTRS)

Zwally, H. Jay; Li, Jun; Robins, John; Saba, Jack L.; Yi, Donghui

2011-01-01

Mass balance estimates for 2003-2008 are derived from ICESat laser altimetry and compared with estimates for 1992-2002 derived from ERS radar altimetry. The net mass balance of 3 drainage systems (Pine Island, Thwaites/Smith, and the coast of Marie Bryd) for 2003-2008 is a loss of 100 Gt/yr, which increased from a loss of 70 Gt/yr for the earlier period. The DS including the Bindschadler and MacAyeal ice streams draining into the Ross Ice Shelf has a mass gain of 11 Gt/yr for 2003-2008, compared to an earlier loss of 70 Gt/yr. The DS including the Whillans and Kamb ice streams has a mass gain of 12 Gt/yr, including a significant thickening on the upper part of the Kamb DS, compared to a earlier gain of 6 Gt/yr (includes interpolation for a large portion of the DS). The other two DS discharging into the Ronne Ice Shelf and the northern Ellsworth Coast have a mass gain of 39 Gt/yr, compared to a gain of 4 Gt/yr for the earlier period. Overall, the increased losses of 30 Gt/yr in the Pine Island, Thwaites/Smith, and the coast of Marie Bryd DSs are exceeded by increased gains of 59 Gt/yr in the other 4 DS. Overall, the mass loss from the West Antarctic ice sheet has decreased to 38 Gt/yr from the earlier loss of 67 Gt/yr, reducing the contribution to sea level rise to 0.11 mm/yr from 0.19 mm/yr

The medial temporal memory system in Down syndrome: Translating animal models of hippocampal compromise.

PubMed

Clark, Caron A C; Fernandez, Fabian; Sakhon, Stella; Spanò, Goffredina; Edgin, Jamie O

2017-06-01

Recent studies have highlighted the dentate gyrus as a region of increased vulnerability in mouse models of Down syndrome (DS). It is unclear to what extent these findings are reflected in the memory profile of people with the condition. We developed a series of novel tasks to probe distinct medial temporal functions in children and young adults with DS, including object, spatial, and temporal order memory. Relative to mental age-matched controls (n = 45), individuals with DS (n = 28) were unimpaired on subtests involving short-term object or configural recall that was divorced from spatial or temporal contexts. By contrast, the DS group had difficulty recalling spatial locations when contextual information was salient and recalling the order in which objects were serially presented. Results are consistent with dysfunction of spatial and temporal contextual pattern separation abilities in individuals with DS, mediated by the hippocampus, including the dentate gyrus. Amidst increasing calls to bridge human and animal work, the memory profile demonstrated here in humans with DS is strikingly similar to that of the Ts65Dn mouse model of DS. The study highlights the trisynaptic circuit as a potentially fruitful intervention target to mitigate cognitive impairments associated with DS. © 2017 Wiley Periodicals, Inc.

Cellulolytic Enzymes Production via Solid-State Fermentation: Effect of Pretreatment Methods on Physicochemical Characteristics of Substrate.

PubMed

Brijwani, Khushal; Vadlani, Praveen V

2011-01-01

We investigated the effect of pretreatment on the physicochemical characteristics-crystallinity, bed porosity, and volumetric specific surface of soybean hulls and production of cellulolytic enzymes in solid-state fermentation of Trichoderma reesei and Aspergillus oryzae cultures. Mild acid and alkali and steam pretreatments significantly increased crystallinity and bed porosity without significant change inholocellulosic composition of substrate. Crystalline and porous steam-pretreated soybean hulls inoculated with T. reesei culture had 4 filter paper units (FPU)/g-ds, 0.6 IU/g-ds β-glucosidase, and 45 IU/g-ds endocellulase, whereas untreated hulls had 0.75 FPU/g-ds, 0.06 IU/g-ds β-glucosidase, and 7.29 IU/g-ds endocellulase enzyme activities. In A. oryzae steam-pretreated soybean hulls had 47.10 IU/g-ds endocellulase compared to 30.82 IU/g-ds in untreated soybean hulls. Generalized linear statistical model fitted to enzyme activity data showed that effects of physicochemical characteristics on enzymes production were both culture and enzyme specific. The paper shows a correlation between substrate physicochemical properties and enzyme production.

Morphological Integration of Soft-Tissue Facial Morphology in Down Syndrome and Siblings

PubMed Central

Starbuck, John; Reeves, Roger H.; Richtsmeier, Joan

2011-01-01

Down syndrome (DS), resulting from trisomy of chromosome 21, is the most common live-born human aneuploidy. The phenotypic expression of trisomy 21 produces variable, though characteristic, facial morphology. Although certain facial features have been documented quantitatively and qualitatively as characteristic of DS (e.g., epicanthic folds, macroglossia, and hypertelorism), all of these traits occur in other craniofacial conditions with an underlying genetic cause. We hypothesize that the typical DS face is integrated differently than the face of non-DS siblings, and that the pattern of morphological integration unique to individuals with DS will yield information about underlying developmental associations between facial regions. We statistically compared morphological integration patterns of immature DS faces (N = 53) with those of non-DS siblings (N = 54), aged 6–12 years using 31 distances estimated from 3D coordinate data representing 17 anthropometric landmarks recorded on 3D digital photographic images. Facial features are affected differentially in DS, as evidenced by statistically significant differences in integration both within and between facial regions. Our results suggest a differential affect of trisomy on facial prominences during craniofacial development. PMID:21996933

Morphological integration of soft-tissue facial morphology in Down Syndrome and siblings.

PubMed

Starbuck, John; Reeves, Roger H; Richtsmeier, Joan

2011-12-01

Down syndrome (DS), resulting from trisomy of chromosome 21, is the most common live-born human aneuploidy. The phenotypic expression of trisomy 21 produces variable, though characteristic, facial morphology. Although certain facial features have been documented quantitatively and qualitatively as characteristic of DS (e.g., epicanthic folds, macroglossia, and hypertelorism), all of these traits occur in other craniofacial conditions with an underlying genetic cause. We hypothesize that the typical DS face is integrated differently than the face of non-DS siblings, and that the pattern of morphological integration unique to individuals with DS will yield information about underlying developmental associations between facial regions. We statistically compared morphological integration patterns of immature DS faces (N = 53) with those of non-DS siblings (N = 54), aged 6-12 years using 31 distances estimated from 3D coordinate data representing 17 anthropometric landmarks recorded on 3D digital photographic images. Facial features are affected differentially in DS, as evidenced by statistically significant differences in integration both within and between facial regions. Our results suggest a differential affect of trisomy on facial prominences during craniofacial development. 2011 Wiley Periodicals, Inc.

The "Tracked Roaming Transect" and distance sampling methods increase the efficiency of underwater visual censuses.

PubMed

Irigoyen, Alejo J; Rojo, Irene; Calò, Antonio; Trobbiani, Gastón; Sánchez-Carnero, Noela; García-Charton, José A

2018-01-01

Underwater visual census (UVC) is the most common approach for estimating diversity, abundance and size of reef fishes in shallow and clear waters. Abundance estimation through UVC is particularly problematic in species occurring at low densities and/or highly aggregated because of their high variability at both spatial and temporal scales. The statistical power of experiments involving UVC techniques may be increased by augmenting the number of replicates or the area surveyed. In this work we present and test the efficiency of an UVC method based on diver towed GPS, the Tracked Roaming Transect (TRT), designed to maximize transect length (and thus the surveyed area) with respect to diving time invested in monitoring, as compared to Conventional Strip Transects (CST). Additionally, we analyze the effect of increasing transect width and length on the precision of density estimates by comparing TRT vs. CST methods using different fixed widths of 6 and 20 m (FW3 and FW10, respectively) and the Distance Sampling (DS) method, in which perpendicular distance of each fish or group of fishes to the transect line is estimated by divers up to 20 m from the transect line. The TRT was 74% more time and cost efficient than the CST (all transect widths considered together) and, for a given time, the use of TRT and/or increasing the transect width increased the precision of density estimates. In addition, since with the DS method distances of fishes to the transect line have to be estimated, and not measured directly as in terrestrial environments, errors in estimations of perpendicular distances can seriously affect DS density estimations. To assess the occurrence of distance estimation errors and their dependence on the observer's experience, a field experiment using wooden fish models was performed. We tested the precision and accuracy of density estimators based on fixed widths and the DS method. The accuracy of the estimates was measured comparing the actual total abundance with those estimated by divers using FW3, FW10, and DS estimators. Density estimates differed by 13% (range 0.1-31%) from the actual values (average = 13.09%; median = 14.16%). Based on our results we encourage the use of the Tracked Roaming Transect with Distance Sampling (TRT+DS) method for improving density estimates of species occurring at low densities and/or highly aggregated, as well as for exploratory rapid-assessment surveys in which divers could gather spatial ecological and ecosystem information on large areas during UVC.

The "Tracked Roaming Transect" and distance sampling methods increase the efficiency of underwater visual censuses

PubMed Central

2018-01-01

Underwater visual census (UVC) is the most common approach for estimating diversity, abundance and size of reef fishes in shallow and clear waters. Abundance estimation through UVC is particularly problematic in species occurring at low densities and/or highly aggregated because of their high variability at both spatial and temporal scales. The statistical power of experiments involving UVC techniques may be increased by augmenting the number of replicates or the area surveyed. In this work we present and test the efficiency of an UVC method based on diver towed GPS, the Tracked Roaming Transect (TRT), designed to maximize transect length (and thus the surveyed area) with respect to diving time invested in monitoring, as compared to Conventional Strip Transects (CST). Additionally, we analyze the effect of increasing transect width and length on the precision of density estimates by comparing TRT vs. CST methods using different fixed widths of 6 and 20 m (FW3 and FW10, respectively) and the Distance Sampling (DS) method, in which perpendicular distance of each fish or group of fishes to the transect line is estimated by divers up to 20 m from the transect line. The TRT was 74% more time and cost efficient than the CST (all transect widths considered together) and, for a given time, the use of TRT and/or increasing the transect width increased the precision of density estimates. In addition, since with the DS method distances of fishes to the transect line have to be estimated, and not measured directly as in terrestrial environments, errors in estimations of perpendicular distances can seriously affect DS density estimations. To assess the occurrence of distance estimation errors and their dependence on the observer’s experience, a field experiment using wooden fish models was performed. We tested the precision and accuracy of density estimators based on fixed widths and the DS method. The accuracy of the estimates was measured comparing the actual total abundance with those estimated by divers using FW3, FW10, and DS estimators. Density estimates differed by 13% (range 0.1–31%) from the actual values (average = 13.09%; median = 14.16%). Based on our results we encourage the use of the Tracked Roaming Transect with Distance Sampling (TRT+DS) method for improving density estimates of species occurring at low densities and/or highly aggregated, as well as for exploratory rapid-assessment surveys in which divers could gather spatial ecological and ecosystem information on large areas during UVC. PMID:29324887

Relationships among identity, perceived discrimination, and depressive symptoms in eight ethnic-generational groups.

PubMed

Donovan, Roxanne A; Huynh, Que-Lam; Park, Irene J K; Kim, Su Yeong; Lee, Richard M; Robertson, Emily

2013-04-01

Examine whether personal identity confusion and ethnic identity, respectively, moderate and/or mediate the relationship between perceived discrimination (PD) and depressive symptoms (DS) in eight ethnic-generational groups. The sample consisted of 9665 students (73% women; mean age 20.31) from 30 colleges and universities from around the United States. Cross-sectional data were gathered through a confidential online survey. Across groups, PD and ethnic identity levels varied, while identity confusion levels were mostly similar. Neither identity confusion nor ethnic identity moderated the PD-DS relationship for any groups. However, identity confusion was a partial mediator for immigrant and nonimmigrant Hispanic/Latino(a) and White/European American participants. Identity confusion also suppressed the PD-DS relationship for Black/African American participants. Results highlight the need for additional research on identity confusion's role in the PD-distress link and the importance of addressing ethnicity and generation status when examining the effects of PD on college students' mental health. © 2012 Wiley Periodicals, Inc.

The interaction between neurocognitive functioning, subthreshold psychotic symptoms and pharmacotherapy in 22q11.2 deletion syndrome: A longitudinal comparative study.

PubMed

Weinberger, R; Weisman, O; Guri, Y; Harel, T; Weizman, A; Gothelf, D

2018-02-01

The 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories. Forty-four participants with 22q11DS, 19 with Williams syndrome (WS) and 30 typically developing (TD) controls, age range 12-35years, were assessed at two time points (15.2±2.1months apart). Evaluation included the Structured Interview for Prodromal Symptoms (SIPS), structured psychiatric evaluation and the Penn Computerized Neurocognitive Battery (CNB). 22q11DS individuals with SPS had a yearly conversion rate to psychotic disorders of 8.8%, compared to none in both WS and TD controls. Baseline levels of negative SPS were associated with global neurocognitive performance (GNP), executive function and social cognition deficits, in individuals with 22q11DS, but not in WS. Deficits in GNP predicted negative SPS in 22q11DS and the emergence or persistence of negative SPS. 22q11DS individuals treated with psychiatric medications showed significant improvement in GNP score between baseline and follow-up assessments, an improvement that was not seen in untreated 22q11DS. Our results highlight the time-dependent interplay among positive and negative SPS symptoms, neurocognition and pharmacotherapy in the prediction of the evolution of psychosis in 22q11DS. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Comparative genomic analysis of the Haloferax volcanii DS2 and Halobacterium salinarium GRB contig maps reveals extensive rearrangement.

PubMed Central

St Jean, A; Charlebois, R L

1996-01-01

Anonymous probes from the genome of Halobacterium salinarium GRB and 12 gene probes were hybridized to the cosmid clones representing the chromosome and plasmids of Halobacterium salinarium GRB and Haloferax volcanii DS2. The order of and pairwise distances between 35 loci uniquely cross-hybridizing to both chromosomes were analyzed in a search for conservation. No conservation between the genomes could be detected at the 15-kbp resolution used in this study. We found distinct sets of low-copy-number repeated sequences in the chromosome and plasmids of Halobacterium salinarium GRB, indicating some degree of partitioning between these replicons. We propose alternative courses for the evolution of the haloarchaeal genome: (i) that the majority of genomic differences that exist between genera came about at the inception of this group or (ii) that the differences have accumulated over the lifetime of the lineage. The strengths and limitations of investigating these models through comparative genomic studies are discussed. PMID:8682791

Preparation of acetylated waxy, normal, and high-amylose maize starches with intermediate degrees of substitution in aqueous solution and their properties.

PubMed

Luo, Zhi-Gang; Shi, Yong-Cheng

2012-09-19

Acetylated waxy, normal, and high-amylose maize starches with intermediate degrees of substitution (DS) were prepared in aqueous solution with 20% (w/w) sodium hydroxide as a catalyst. The level of DS was in the order high-amylose maize starch > waxy maize starch > normal maize starch. Settling volume indicated that during the early reaction, normal maize starch swelled to a lesser extent compared with waxy and high-amylose maize starches. The settling volume of all three starches increased initially but decreased after long reaction time. Aggregation of granules was observed as DS increased. The A-type X-ray diffraction pattern of acetylated normal and waxy maize starches weakened as DS increased, whereas the diffraction peaks disappeared in acetylated high-amylose starch when DS was 0.95. Low DS promoted the swelling of the starches in water, but at high DS, the starches became more hydrophobic and the peak viscosity of acetylated starches decreased.

Level of Discomfort Decreases After the Administration of Continuous Palliative Sedation: A Prospective Multicenter Study in Hospices and Palliative Care Units.

PubMed

van Deijck, Rogier H P D; Hasselaar, Jeroen G J; Verhagen, Stans C A H H V M; Vissers, Kris C P; Koopmans, Raymond T C M

2016-09-01

A gold standard or validated tool for monitoring the level of discomfort during continuous palliative sedation (CPS) is lacking. Therefore, little is known about the course of discomfort in sedated patients, the efficacy of CPS, and the determinants of discomfort during CPS. To identify the course of discomfort in patients receiving CPS. A prospective observational multicenter study in nine hospices and palliative care units was performed. The Discomfort Scale-Dementia of Alzheimer Type (DS-DAT) was independently assessed for monitoring of patient discomfort during CPS. The DS-DAT scores range from 0 (no observed discomfort) to a maximum of 27 (high level of observed discomfort). Using a mixed model, the mean group score of discomfort between four predefined time frames of CPS was compared, correcting for confounding patient characteristics. A total of 130 patients were sedated, and the DS-DAT was completed in 106 patients at least once. The median duration of the sedation in these 106 patients was 25.5 hours (range 2-161). The mean score of the DS-DAT in the phase before sedation was 12.16 (95% CI 9.83-14.50) and decreased significantly to 8.06 (95% CI 5.53-10.58) in the titration phase of sedation. The mean score of the DS-DAT in the final phase of sedation was 7.42 (95% CI 4.90-9.94). This study shows that CPS is associated with a decrease in the level of discomfort within an acceptable time frame, although in some sedated patients higher levels of discomfort in the last hours of life occurred. Although the DS-DAT seems to be of value for monitoring the level of discomfort during CPS, the results of this study should be interpreted within the constraints of the limitations, and further research on the psychometric properties of this tool is needed before the DS-DAT can be used in clinical practice. Copyright © 2016 American Academy of Hospice and Palliative Medicine. Published by Elsevier Inc. All rights reserved.

Deep sedation versus general anesthesia in percutaneous edge-to-edge mitral valve reconstruction using the MitraClip system.

PubMed

de Waha, Suzanne; Seeburger, Joerg; Ender, Joerg; Desch, Steffen; Eitel, Ingo; Reinhardt, Adrian; Pöss, Janine; Fuernau, Georg; Noack, Thilo; Merk, Denis Rouven; Schuler, Gerhard; Sievers, Hans-Hinrich; Mohr, Friedrich-Wilhelm; Thiele, Holger

2016-06-01

Percutaneous edge-to-edge mitral valve reconstruction (PMVR) has emerged as a treatment option in patients with severe mitral regurgitation not considered suitable candidates for surgery. The majority of PMVR procedures are performed under general anesthesia (GA), although deep sedation (DS) appears to be an attractive alternative. We thus sought to assess the impact on intensive care unit (ICU) length of stay, efficacy, and safety of DS in comparison to GA in patients undergoing PMVR using the MitraClip(®) system. Sixty consecutive patients underwent PMVR procedures at two centers. The first 30 patients were treated by GA followed by 30 patients undergoing DS under different settings. The primary clinical endpoint was ICU length of stay. The primary efficacy endpoint included procedural success and procedural duration. The safety endpoint was defined as a composite of death, stroke, cardiogenic shock, moderate and severe bleeding as well as pneumonia. The ICU length of stay was significantly shorter in the DS group in comparison to GA patients (p = 0.001). The hospital length of stay did not differ following DS in comparison to GA (p = 0.96). Procedural success was high in both groups (100 versus 96.7 %, p = 0.34) at similar procedural duration time (p = 0.60). No difference between GA and DS was observed with respect to the occurrence of the combined safety endpoint (p = 0.47). In comparison to GA, DS reduces the ICU length of stay in PMVR without negative effects on safety and efficacy. Prospective randomized trials are needed to confirm these findings.

Haploidentical hematopoietic transplantation from KIR ligand-mismatched donors with activating KIRs reduces nonrelapse mortality.

PubMed

Mancusi, Antonella; Ruggeri, Loredana; Urbani, Elena; Pierini, Antonio; Massei, Maria Speranza; Carotti, Alessandra; Terenzi, Adelmo; Falzetti, Franca; Tosti, Antonella; Topini, Fabiana; Bozza, Silvia; Romani, Luigina; Tognellini, Rita; Stern, Martin; Aversa, Franco; Martelli, Massimo F; Velardi, Andrea

2015-05-14

Because activating killer cell immunoglobulinlike receptors (KIRs) are heterogeneously expressed in the population, we investigated the role of donor activating KIRs in haploidentical hematopoietic transplants for acute leukemia. Transplants were grouped according to presence vs absence of KIR-ligand mismatches in the graft-vs-host direction (ie, of donor-vs-recipient natural killer [NK]-cell alloreactivity). In the absence of donor-vs-recipient NK-cell alloreactivity, donor activating KIRs had no effects on outcomes. In the 69 transplant pairs with donor-vs-recipient NK-cell alloreactivity, transplantation from donors with KIR2DS1 and/or KIR3DS1 was associated with reduced risk of nonrelapse mortality, largely infection related (KIR2DS1 present vs absent: hazard ratio [HR], 0.25; P = .01; KIR3DS1 present vs absent: HR, 0.18; P = .006), and better event-free survival (KIR2DS1 present vs absent: HR, 0.31; P = .011; KIR3DS1 present vs absent: HR, 0.30; P = .008). Transplantation from donors with KIR2DS1 and/or KIR3DS1 was also associated with a 50% reduction in infection rate (P = .003). In vitro analyses showed that KIR2DS1 binding to its HLA-C2 ligand upregulated inflammatory cytokine production by alloreactive NK cells in response to infectious challenges. Because ∼40% of donors able to exert donor-vs-recipient NK-cell alloreactivity carry KIR2DS1 and/or KIR3DS1, searching for them may become a feasible, additional criterion in donor selection. © 2015 by The American Society of Hematology.

The Impact of Parenting Stress: A Meta-Analysis of Studies Comparing the Experience of Parenting Stress in Parents of Children with and without Autism Spectrum Disorder

ERIC Educational Resources Information Center

Hayes, Stephanie A.; Watson, Shelley L.

2013-01-01

Researchers commonly report that families of children with autism spectrum disorder (ASD) experience more parenting stress than families of typically developing (TD) children or those diagnosed with other disabilities [e.g., Down syndrome (DS), cerebral palsy, intellectual disability]. The authors reexamined the research using comparison groups to…

Attention and interpretation bias modification treatment for social anxiety disorder: A randomized clinical trial of efficacy and synergy.

PubMed

Naim, Reut; Kivity, Yogev; Bar-Haim, Yair; Huppert, Jonathan D

2018-06-01

Attention bias modification treatment (ABMT) and cognitive bias modification of interpretation (CBM-I) both have demonstrated efficacy in alleviating social anxiety, but how they compare with each other, their combination, and with a combined control condition has not been studied. We examined their relative and combined efficacy compared to control conditions in a randomized controlled trial (RCT). Ninety-five adults diagnosed with social anxiety disorder (SAD), were randomly allocated to 4 groups: ABMT + CBM-I control (hereafter ABMT; n = 23), CBM-I + ABMT control (hereafter CBM-I; n = 24), combined ABMT + CBM-I (n = 23), and combined control (n = 25). Treatment included eight sessions over four weeks. Clinician-rated and self-reported measures of social anxiety symptoms, functional impairment, and threat-related attention and interpretive biases were evaluated at baseline, post-treatment, and 3-month follow-up. ABMT yielded greater symptom reduction as measured by both clinician-ratings (Cohen's ds = 0.57-0.70) and self-reports (ds = 0.70-0.85) compared with the CBM-I, the combined ABMT + CBM-I, and the combined control conditions. Neither of the other conditions demonstrated superior symptom change compared to the control condition. No group differences were found for functioning or cognitive biases measures. Limitations mainly include the mix of active and control treatments applied across the different groups. Therefore, the net effect of each of the treatments by itself could not be clearly tested. Results suggest superiority of ABMT compared to CBM-I and their combination in terms of symptom reduction. Possible interpretations and methodological issues underlying the observed findings are discussed. Copyright © 2017 Elsevier Ltd. All rights reserved.

Smoking Patterns and Stimulus Control in Intermittent and Daily Smokers

PubMed Central

Shiffman, Saul; Dunbar, Michael S.; Li, Xiaoxue; Scholl, Sarah M.; Tindle, Hilary A.; Anderson, Stewart J.; Ferguson, Stuart G.

2014-01-01

Intermittent smokers (ITS) – who smoke less than daily – comprise an increasing proportion of adult smokers. Their smoking patterns challenge theoretical models of smoking motivation, which emphasize regular and frequent smoking to maintain nicotine levels and avoid withdrawal, but yet have gone largely unexamined. We characterized smoking patterns among 212 ITS (smoking 4–27 days per month) compared to 194 daily smokers (DS; smoking 5–30 cigarettes daily) who monitored situational antecedents of smoking using ecological momentary assessment. Subjects recorded each cigarette on an electronic diary, and situational variables were assessed in a random subset (n = 21,539 smoking episodes); parallel assessments were obtained by beeping subjects at random when they were not smoking (n = 26,930 non-smoking occasions). Compared to DS, ITS' smoking was more strongly associated with being away from home, being in a bar, drinking alcohol, socializing, being with friends and acquaintances, and when others were smoking. Mood had only modest effects in either group. DS' and ITS' smoking were substantially and equally suppressed by smoking restrictions, although ITS more often cited self-imposed restrictions. ITS' smoking was consistently more associated with environmental cues and contexts, especially those associated with positive or “indulgent” smoking situations. Stimulus control may be an important influence in maintaining smoking and making quitting difficult among ITS. PMID:24599056

Differential loss of natural killer cell activity in patients with acute myocardial infarction and stable angina pectoris.

PubMed

Yan, Wenwen; Zhou, Lin; Wen, Siwan; Duan, Qianglin; Huang, Feifei; Tang, Yu; Liu, Xiaohong; Chai, Yongyan; Wang, Lemin

2015-01-01

To evaluate the activity of natural killer cells through their inhibitory and activating receptors and quantity in peripheral blood mononuclear cells extracted from patients with acute myocardial infarction, stable angina pectoris and the controls. 100 patients with myocardial infarction, 100 with stable angina, and 20 healthy volunteers were recruited into the study. 20 randomly chosen people per group were examined for the whole human genome microarray analysis to detect the gene expressions of all 40 inhibitory and activating natural killer cell receptors. Flow cytometry analysis was applied to all 200 patients to measure the quantity of natural killer cells. In myocardial infarction group, the mRNA expressions of six inhibitory receptors KIR2DL2, KIR3DL3, CD94, NKG2A, KLRB1, KLRG1, and eight activating receptors KIR2DS3, KIR2DS5, NKp30, NTB-A, CRACC, CD2, CD7 and CD96 were significantly down-regulated (P<0.05) compared with both angina patients and the controls. There was no statistical difference in receptor expressions between angina patients and control group. The quantity of natural killer cells was significantly decreased in both infarction and angina patients compared with normal range (P<0.001). The significant mRNAs down-regulation of several receptors in myocardial infarction group and reduction in the quantity of natural killer cells in both myocardial infarction and angina patients showed a quantitative loss and dysfunction of natural killer cells in myocardial infarction patients.

Executive Function in Williams and Down Syndromes

ERIC Educational Resources Information Center

Carney, Daniel P. J.; Brown, Janice H.; Henry, Lucy A.

2013-01-01

Williams (WS) and Down (DS) syndromes are characterised by roughly opposing ability profiles. Relative verbal strengths and visuospatial difficulties have been reported in those with WS, while expressive language difficulties have been observed in individuals with DS. Few investigations into the executive function (EF) skills of these groups have…

Maternal responsivity in mothers of young children with Down syndrome.

PubMed

Sterling, Audra; Warren, Steven F

2014-10-01

The purpose of this study was to examine maternal responsivity and directive behaviors in mothers of children with Down syndrome (DS). Participants included 22 mothers with a young child with DS compared to 22 mothers of chronologically age-matched typically developing (TD) children using a cross-sectional design. The dyads participated in videotaped structured activities that were coded for responsive and directive behaviors. RESULTS indicated that the mothers of children with DS used a more facilitative style with the older children while these behaviors decreased with older children with TD; one directive behavior, request for behavioral comply, increased with the older children with DS. The mothers of children with DS adapted their parenting style to be facilitative of their children's linguistic development.

Influence of intra-molecular flexibility on the elastic property of double-stranded DNA film on a substrate

NASA Astrophysics Data System (ADS)

Wu, Jun-Zheng; Meng, Wei-Lie; Tang, Heng-Song; Zhang, Neng-Hui

2017-05-01

DNA film self-assembled or nanografted on a substrate, as a kind of soft matter, consists of fixed DNA chains endowed with negative charges and an aqueous solution full of cations, anions and water molecules. Their thermal/electrical/mechanical properties are closely related to the complex biodetection signals in nano-/micro-scale biosensors and other new genome technologies. This makes it important to properly characterize these properties. In this paper, the effect of flexible micro-scale configurations on the elastic moduli of DNA films is investigated. First, illuminated by Qiu’s sphere model, an alternative bead-chain model in terms of the Yukawa potential is presented for flexible intra-DNA configurations to describe interactions between DNA fragments. The effective charges of coarse-grained DNA beads could be derived, in which the empirical parameters are identified by curve fitting with Qiu’s experimental data. Second, the updated mesoscopic bead-chain model and the thought experiment of a continuum compression bar are used to compare the elastic moduli of double-stranded DNA (dsDNA) films prepared by self-assembling and nanografting techniques. Configurational sampling is achieved via Monte Carlo simulation. Our predictions quantitatively or qualitatively agree well with the relevant experiments on the effective charge of dsDNA from low to moderate monovalent counterion concentration, immobilization deflection of single-stranded DNA (ssDNA) or dsDNA microcantilever with the variation of salt concentration, and elastic modulus of ssDNA film in the air. The results reveal that different solution environment stimulates the diverse mechanical properties of dsDNA film on a substrate, and the end effect (i.e. terminal group effect) makes self-assembling dsDNA film stiffer in the sense of the same average packing density.

[The Additional Role of Symptom-Reflux Association Analysis of Diagnosis of Gastroesophageal Reflux Disease Using Bravo Capsule pH Test].

PubMed

Jung, Kyoungwon; Park, Moo In; Park, Seun Ja; Moon, Won; Kim, Sung Eun; Kim, Jae Hyun

2017-10-25

Since the development of ambulatory esophageal pH monitoring test to diagnose gastroesophageal reflux disease (GERD), several parameters have been introduced. The aim of this study was to assess whether using the symptom index (SI), symptom sensitivity index (SSI), and symptom association probability (SAP), in addition to the DeMeester score (DS), would be useful for interpreting the Bravo pH monitoring test. A retrospective study, which included 68 patients with reflux symptoms refractory to proton pump inhibitor (PPI) therapy who underwent a Bravo capsule pH test between October 2006 and May 2015, was carried out. Acid reflux parameters and symptom reflux association parameters were analyzed. The median percent time of total pH<4 and DS were 2.90% (interquartile range [IQR] 1.13-6.03%) and 11.10 (IQR 4.90-22.80), respectively. According to the analysis of the day-to-day variation in percent time of total pH<4 (r=0.724) and DS (r=0.537), there was a significant correlation between Day 1 and Day 2. The positive rate of Bravo test according to DS was 27 (39.7%). Although thirty patients experienced symptoms during the test, there were no significant differences of reflux parameters compared with other patients. In the symptom group, 7 patients (23.3%) were identified as having negative DS and an abnormal symptom-related index. There were no significant test-related complications. In addition to the analysis of traditional acid parameters of the Bravo capsule pH test, diagnosis of GERD, including reflux hypersensitivity, can be improved by performing an analysis of the symptom-reflux association and of the day-to-day variation.

Double-sided magnetic molecularly imprinted polymer modified graphene oxide for highly efficient enrichment and fast detection of trace-level microcystins from large-volume water samples combined with liquid chromatography-tandem mass spectrometry.

PubMed

Pan, Sheng-Dong; Chen, Xiao-Hong; Li, Xiao-Ping; Cai, Mei-Qiang; Shen, Hao-Yu; Zhao, Yong-Gang; Jin, Mi-Cong

2015-11-27

Microcystins (MCs), a group of cyclic heptapeptide heaptoxins and tumor promoters, are generated by cyanobacteria occurring in surface waters, such as eutrophic lakes, rivers, and reservoirs. In this present study, a novel double-sided magnetic molecularly imprinted polymer modified graphene oxide (DS-MMIP@GO) based magnetic solid-phase extraction (MSPE) method was developed for fast, effective and selective enrichment, and recognition of trace MCs in environmental water samples combined with high performance liquid chromatography-tandem mass spectrometry (LC-MS/MS). The synthesized novel DS-MMIP@GO was used as the adsorbents in this work and was carefully characterized by scanning electron microscopy (SEM), transmission electron microscopy (TEM), Fourier transform infrared spectroscopy (FTIR), and Raman spectra. The adsorption and desorption conditions of DS-MMIP@GO toward MCs were optimized in detail to obtain the highest binding capacity, selectivity, and release efficiency. Under the optimum conditions, the enrichment factors of the method for eight target MCs were found to be 2000. The limits of quantitation (LOQs) of the method for eight MCs were in range of 0.1-2.0ngL(-1). The double-sided MMIP modified structure provided DS-MMIP@GO with abundant adsorption sites and permitted it to exhibit excellent enrichment and selectivity toward trace-level MCs. The proposed method was successfully applied for the analysis of environmental water samples with recoveries ranging from 84.1 to 98.2%. Compared to conventional methods for MCs detection reported in literatures, the one developed in this work based on DS-MMIP@GO and LC-MS/MS showed much faster, more sensitive, and more convenient. Copyright © 2015 Elsevier B.V. All rights reserved.

zFP538, a yellow fluorescent protein from coral, belongs to the DsRed subfamily of GFP-like proteins but possesses the unexpected site of fragmentation.

PubMed

Zagranichny, Vasily E; Rudenko, Natalia V; Gorokhovatsky, Andrey Yu; Zakharov, Mikhail V; Shenkarev, Zakhar O; Balashova, Tamara A; Arseniev, Alexander S

2004-04-27

The yellow fluorescent protein (zFP538) from coral Zoanthus sp. belongs to a family of green fluorescent protein (GFP). Absorption and emission spectra of zFP538 show an intermediate bathochromic shift as compared with a number of recently cloned GFP-like red fluorescent and nonfluorescent chromoproteins of the DsRed subfamily. Here we report that the zFP538 chromophore is very close, if not identical, in chemical structure to that of DsRed. To gain insight into the mechanism of zFP538 fluorescence and chromophore structure and chemistry, we studied three chromophore-containing peptides isolated from enzymatic digests of zFP538. Like GFP and DsRed chromophores, these contain a p-hydroxybenzylideneimidazolinone moiety formed by Lys-66, Tyr-67, and Gly-68 of zFP538. One of the peptides studied, the hexapeptide FKYGDR derivative, is a proteolysis product of the zFP538 full-length polypeptide containing a GFP-type chromophore already formed and arrested at an earlier stage of maturation. The two other peptides are the derivatives of the pentapeptide KYGDR resulted from the protein in which the chromophore maturation process had been completed. One of these has an oxogroup at Lys-66 C(alpha) and is a hydrolysis product of another one, with the imino group at Lys-66 C(alpha). The N-unsubstituted imino moiety of the latter is generated by spontaneous polypeptide chain fragmentation at a very unexpected site, the former peptide bond between Phe-65 C' and Lys-66 N(alpha). Also observed in the entire protein under mild denaturing conditions, this fragmentation is likely the feature of native zFP538 chromophore that distinguishes it chemically from the DsRed chromophore.

Demographic and Environmental Factors Associated with Mental Health: A Cross-Sectional Study

PubMed Central

Kim, Jayeun; Kim, Ho

2017-01-01

Relevant demographic and environmental conditions need to be understood before tailoring policies to improve mental health. Using community health survey data from 25 communities in Seoul, 2013, cross-sectional associations between mental health and community level environments were assessed. Mental health outcomes (self-rated stress levels (SRS) and depressive symptoms (DS)) were analyzed. Community environmental factors included green space, green facilities, and annual PM10 level (AnnPM10); socio-demographic factors included sex, age, education, labor market participation, comorbidity, sleep hours, physical activity, smoking, and drinking. A total of 23,139 people with the following characteristics participated: men (44.2%); age groups 19−39 (36.0%), 40−59 (39.4%), 60−74 (19.2%), and 75+ (5.4%). Women had higher odds ratios (OR) for SRS [OR 1.22, 95% Confidence interval (CI) 1.17–1.27] and DS [OR 1.55, 95% CI 1.42–1.71]. Regular physical activity predicted SRS [OR 0.90, 95% CI 0.84–0.95] and DS [OR 0.98, 95% CI 0.88–1.10]; current smoking and drinking were adversely associated with both SRS and DS. Higher accessibility to green space (Q4) was inversely associated with DS [OR 0.89, 95% CI 0.81−0.97] compared to lower accessibility (Q1). AnnPM10, annual levels for particles of aerodynamic diameter <10 µm (PM10), among communities was associated with poorer SRS [OR 1.02, 95% CI 1.00–1.04] by 10 μg/m3 increases. Therefore, both demographic and environmental factors should be considered to understand mental health conditions among the general population. PMID:28420189

Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project.

PubMed

Hart, Sarah J; Schoch, Kelly; Shashi, Vandana; Callanan, Nancy

2016-02-01

Individuals with 22q11.2 deletion syndrome (22q11.2DS) have an increased chance of developing a psychiatric disorder. While parents of children affected by 22q11.2DS typically receive counseling about risk for non-psychiatric health concerns, genetic counselors may be reluctant to discuss psychiatric risk. Further education of genetic counselors may be necessary to encourage discussion of psychiatric risk with these families. The goal of this project was to develop recommendations for genetic counselors to provide psychiatric risk information to families affected by 22q11.2DS. The recommendations were developed by synthesizing resources in the literature about risk communication. These recommendations were refined following an online focus group meeting with five health care professionals who were recruited for participation from 22q11.2DS clinics across the U.S.A. The focus group data revealed three themes related to discussion of psychiatric risk: 1) Stepwise approach, 2) Discussing treatment options and reducing risks, and 3) Addressing stigma. These recommendations may be used as a foundation for a future clinical protocol to encourage discussion about the risk for psychiatric illness at an earlier point in the diagnostic process for 22q11.2DS and to provide improved information, support and resources to affected families.

Dietary supplement use among cancer survivors of the NutriNet-Santé cohort study.

PubMed

Pouchieu, Camille; Fassier, Philippine; Druesne-Pecollo, Nathalie; Zelek, Laurent; Bachmann, Patrick; Touillaud, Marina; Bairati, Isabelle; Hercberg, Serge; Galan, Pilar; Cohen, Patrice; Latino-Martel, Paule; Touvier, Mathilde

2015-04-28

Dietary supplements (DS) may influence cancer prognosis. Their use in cancer patients has been described in the United States, but data are largely lacking in Europe and notably in France. The present study's objectives were (1) to assess DS use and its sociodemographic, lifestyle, and dietary correlates in a large sample of French cancer survivors; (2) to evaluate the involvement of physicians in such DS use; and (3) to assess the extent of potentially harmful practices. Data were collected by self-administered web-based questionnaires among participants of the NutriNet-Santé cohort. Data on DS use was available for 1081 cancer survivors. DS users were compared to non-users with unconditional logistic regressions. DS use was reported by 62% of women and 29% of men. Vitamins D, B6, C and Mg were the most frequently consumed nutrients. 14% of cancer survivors initiated DS use after diagnosis. For 35% of the DS consumed, subjects did not inform their attending physician. DS use was associated with a healthier lifestyle (normal weight, never smoking and better diet) and substantially contributed to nutrient intake. 18% of DS users had potentially harmful DS use practices, such as the simultaneous use of vitamin E and anticoagulant/antiplatelet agents, the use of β-carotene and smoking or the use of phyto-oestrogens in hormone-dependent cancer patients. The present study suggests that DS use is widespread among cancer survivors, a large amount of that use is performed without any medical supervision and a substantial proportion of that use involves potentially harmful practices. Physicians should be encouraged to more routinely discuss DS use with their cancer patients.

The biology, pathogenesis and clinical aspects of acute lymphoblastic leukemia in children with Down syndrome.

PubMed

Lee, P; Bhansali, R; Izraeli, S; Hijiya, N; Crispino, J D

2016-09-01

Children with Down syndrome (DS) are at a 20-fold increased risk for acute lymphoblastic leukemia (DS-ALL). Although the etiology of this higher risk of developing leukemia remains largely unclear, the recent identification of CRLF2 (cytokine receptor like factor 2) and JAK2 mutations and study of the effect of trisomy of Hmgn1 and Dyrk1a (dual-specificity tyrosine phosphorylation-regulated kinase 1A) on B-cell development have shed significant new light on the disease process. Here we focus on the clinical features, biology and genetics of ALL in children with DS. We review the unique characteristics of DS-ALL on both the clinical and molecular levels and discuss the differences in treatments and outcomes in ALL in children with DS compared with those without DS. The identification of new biological insights is expected to pave the way for novel targeted therapies.

Costs to Health Services and the Patient of Treating Tuberculosis: A Systematic Literature Review.

PubMed

Laurence, Yoko V; Griffiths, Ulla K; Vassall, Anna

2015-09-01

Novel tuberculosis (TB) drugs and the need to treat drug-resistant tuberculosis (DR-TB) are likely to bring about substantial transformations in TB treatment in coming years. An evidence base for cost and cost-effectiveness analyses of these developments is needed. Our objective was to perform a review of papers assessing provider-incurred as well as patient-incurred costs of treating both drug-susceptible (DS) and multidrug-resistant (MDR)-TB. Five databases (EMBASE, Medline, the National Health Service Economic Evaluation Database, the Cost-Effectiveness Analysis Registry, and Latin American and Caribbean Health Services Literature) were searched for cost and economic evaluation full-text papers containing primary DS-TB and MDR-TB treatment cost data published in peer-reviewed journals between January 1990 and February 2015. No language restrictions were set. The search terms were a combination of 'tuberculosis', 'multidrug-resistant tuberculosis', 'cost', and 'treatment'. In the selected papers, study methods and characteristics, quality indicators and costs were extracted into summary tables according to pre-defined criteria. Results were analysed according to country income groups and for provider costs, patient costs and productivity losses. All values were converted to $US, year 2014 values, so that studies could be compared. We selected 71 treatment cost papers on DS-TB only, ten papers on MDR-TB only and nine papers that included both DS-TB and MDR-TB. These papers provided evidence on the costs of treating DS-TB and MDR-TB in 50 and 16 countries, respectively. In 31 % of the papers, only provider costs were included; 26 % included only patient-incurred costs, and the remaining 43 % estimated costs incurred by both. From the provider perspective, mean DS-TB treatment costs per patient were US$14,659 in high-income countries (HICs), US$840 in upper middle-income countries (UMICs), US$273 in lower middle-income (LMICs), and US$258 in low-income countries (LICs), showing a strong positive correlation. The respective costs for treating MDR-TB were US$83,365, US$5284, US$6313 and US$1218. Costs incurred by patients when seeking treatment for DS-TB accounted for an additional 3 % of the provider costs in HICs. A greater burden was seen in the other income groups, increasing the costs of DS-TB treatment by 72 % in UMICs, 60 % in LICs and 31 % in LMICs. When provider costs, patient costs and productivity losses were combined, productivity losses accounted for 16 % in HICs, 29 % in UMICs, 40 % in LMICs and 38 % in LICs. Cost data for MDR-TB treatment are limited, and the variation in delivery mechanisms, as well as the rapidly evolving diagnosis and treatment regimens, means that it is essential to increase the number of studies assessing the cost from both provider and patient perspectives. There is substantial evidence available on the costs of DS-TB treatment from all regions of the world. The patient-incurred costs illustrate that the financial burden of illness is relatively greater for patients in poorer countries without universal healthcare coverage.

Vitamin E in aging persons with Down syndrome: A randomized, placebo-controlled clinical trial.

PubMed

Sano, Mary; Aisen, Paul S; Andrews, Howard F; Tsai, Wei-Yann; Lai, Florence; Dalton, Arthur J

2016-05-31

To determine whether vitamin E would slow the progression of cognitive deterioration and dementia in aging persons with Down syndrome (DS). A randomized, double-blind controlled clinical trial was conducted at 21 clinical sites, and researchers trained in research procedures recruited adults with DS older than 50 years to participate. Participants were randomly assigned to receive 1,000 IU of vitamin E orally twice daily for 3 years or identical placebo. The primary outcome was change on the Brief Praxis Test (BPT). Secondary outcomes included incident dementia and measures of clinical global change, cognition, function, and behavior. A total of 337 individuals were randomized, 168 to vitamin E and 169 to placebo. Both groups demonstrated deterioration on the BPT with no difference between drug and placebo. At baseline, 26% were diagnosed with dementia and there was an overall rate of incident dementia of 11%/year with no difference between groups. There was no effect on the secondary outcome measures. Though numerically higher in the treatment group, there was no difference in the number of adverse events (p = 0.079) and deaths (p = 0.086) between groups. Vitamin E did not slow the progression of cognitive deterioration in older individuals with DS. This study provides Class II evidence that vitamin E does not significantly slow the progression of cognitive deterioration in aging persons with DS. © 2016 American Academy of Neurology.

High Avidity dsDNA Autoantibodies in Brazilian Women with Systemic Lupus Erythematosus: Correlation with Active Disease and Renal Dysfunction

PubMed Central

Oliveira, Rodrigo C.; Oliveira, Isabela S.; Santiago, Mittermayer B.; Sousa Atta, Maria L. B.; Atta, Ajax M.

2015-01-01

We investigated in Brazilian women with SLE the prevalence and levels of high avidity (HA) dsDNA antibodies and tested their correlation with lupus activity and biomarkers of renal disease. We also compared these correlations to those observed with total dsDNA antibodies and antibodies against nucleosome (ANuA). Autoantibodies were detected by ELISA, while C3 and C4 levels were determined by nephelometry. Urine protein/creatinine ratio was determined, and lupus activity was measured by SLEDAI-2K. The prevalence of total and HA dsDNA antibodies was similar to but lower than that verified for ANuA. The levels of the three types of antibodies were correlated, but the correlation was more significant between HA dsDNA antibodies and ANuA. High avidity dsDNA antibodies correlated positively with ESR and SLEDAI and inversely with C3 and C4. Similar correlations were observed for ANuA levels, whereas total dsDNA antibodies only correlated with SLEDAI and C3. The levels of HA dsDNA antibodies were higher in patients with proteinuria, but their levels of total dsDNA antibodies and ANuA were unaltered. High avidity dsDNA antibodies can be found in high prevalence in Brazilian women with SLE and are important biomarkers of active disease and kidney dysfunction. PMID:26583157

High Avidity dsDNA Autoantibodies in Brazilian Women with Systemic Lupus Erythematosus: Correlation with Active Disease and Renal Dysfunction.

PubMed

Oliveira, Rodrigo C; Oliveira, Isabela S; Santiago, Mittermayer B; Sousa Atta, Maria L B; Atta, Ajax M

2015-01-01

We investigated in Brazilian women with SLE the prevalence and levels of high avidity (HA) dsDNA antibodies and tested their correlation with lupus activity and biomarkers of renal disease. We also compared these correlations to those observed with total dsDNA antibodies and antibodies against nucleosome (ANuA). Autoantibodies were detected by ELISA, while C3 and C4 levels were determined by nephelometry. Urine protein/creatinine ratio was determined, and lupus activity was measured by SLEDAI-2K. The prevalence of total and HA dsDNA antibodies was similar to but lower than that verified for ANuA. The levels of the three types of antibodies were correlated, but the correlation was more significant between HA dsDNA antibodies and ANuA. High avidity dsDNA antibodies correlated positively with ESR and SLEDAI and inversely with C3 and C4. Similar correlations were observed for ANuA levels, whereas total dsDNA antibodies only correlated with SLEDAI and C3. The levels of HA dsDNA antibodies were higher in patients with proteinuria, but their levels of total dsDNA antibodies and ANuA were unaltered. High avidity dsDNA antibodies can be found in high prevalence in Brazilian women with SLE and are important biomarkers of active disease and kidney dysfunction.

Alterations of fibrin network structure mediated by dermatan sulfate.

PubMed

Lauricella, Ana María; Castañon, María Mercedes; Kordich, Lucía C; Quintana, Irene L

2013-02-01

Dermatan sulfate (DS) is well-known for its anticoagulant activity through binding to heparin cofactor II (HCII) to enhance thrombin inhibition. It has also been reported that DS has a profibrinolytic effect. We have evaluated the effects of DS solutions (4-20 μg/mL) on the formation (by kinetic studies), structure (by electron microscopy and compaction assays) and lysis (with urokinase-type plasminogen activator) of plasma fibrin networks. The results showed that DS significantly prolonged the lag phase and decreased the fibrin formation rate and the optical density of the final networks versus control, in a concentration dependent way. DS-associated networks presented a minor network percentage compared with control, composed of lower number of fibers per field, which resulted significantly thinner and longer. Moreover, DS rendered gels more sensible to rupture by centrifugal force and more susceptible to lysis. When fibrin formation kinetic assays were performed with purified fibrinogen instead of plasma, in the absence of HCII, the optical density of final DS-associated networks was statistically lower than control. Therefore, a direct effect of DS on the thickness of fibers was observed. Since in all in vitro assays low DS concentrations were used, it could be postulated that the fibrin features described above are plausible to be found in in vivo thrombi and therefore, DS would contribute to the formation of less thrombogenic clots.

Exploring the Therapeutic Mechanism of Desmodium styracifolium on Oxalate Crystal-Induced Kidney Injuries Using Comprehensive Approaches Based on Proteomics and Network Pharmacology.

PubMed

Hou, Jiebin; Chen, Wei; Lu, Hongtao; Zhao, Hongxia; Gao, Songyan; Liu, Wenrui; Dong, Xin; Guo, Zhiyong

2018-01-01

Purpose: As a Chinese medicinal herb, Desmodium styracifolium (Osb.) Merr (DS) has been applied clinically to alleviate crystal-induced kidney injuries, but its effective components and their specific mechanisms still need further exploration. This research first combined the methods of network pharmacology and proteomics to explore the therapeutic protein targets of DS on oxalate crystal-induced kidney injuries to provide a reference for relevant clinical use. Methods: Oxalate-induced kidney injury mouse, rat, and HK-2 cell models were established. Proteins differentially expressed between the oxalate and control groups were respectively screened using iTRAQ combined with MALDI-TOF-MS. The common differential proteins of the three models were further analyzed by molecular docking with DS compounds to acquire differential targets. The inverse docking targets of DS were predicted through the platform of PharmMapper. The protein-protein interaction (PPI) relationship between the inverse docking targets and the differential proteins was established by STRING. Potential targets were further validated by western blot based on a mouse model with DS treatment. The effects of constituent compounds, including luteolin, apigenin, and genistein, were investigated based on an oxalate-stimulated HK-2 cell model. Results: Thirty-six common differentially expressed proteins were identified by proteomic analysis. According to previous research, the 3D structures of 15 major constituents of DS were acquired. Nineteen differential targets, including cathepsin D (CTSD), were found using molecular docking, and the component-differential target network was established. Inverse-docking targets including p38 MAPK and CDK-2 were found, and the network of component-reverse docking target was established. Through PPI analysis, 17 inverse-docking targets were linked to differential proteins. The combined network of component-inverse docking target-differential proteins was then constructed. The expressions of CTSD, p-p38 MAPK, and p-CDK-2 were shown to be increased in the oxalate group and decreased in kidney tissue by the DS treatment. Luteolin, apigenin, and genistein could protect oxalate-stimulated tubular cells as active components of DS. Conclusion: The potential targets including the CTSD, p38 MAPK, and CDK2 of DS in oxalate-induced kidney injuries and the active components (luteolin, apigenin, and genistein) of DS were successfully identified in this study by combining proteomics analysis, network pharmacology prediction, and experimental validation.

An International Multicenter Study Assessing the Role of Ethnicity on Variation of Lumbar Facet Joint Orientation and the Occurrence of Degenerative Spondylolisthesis in Asia Pacific: A Study from the AOSpine Asia Pacific Research Collaboration Consortium

PubMed Central

Williams, Richard; Cheung, Jason Pui Yin; Goss, Ben; Rajasekaran, Shanmuganathan; Kawaguchi, Yoshiharu; Acharya, Shankar; Kawakami, Mamoru; Satoh, Shigenobu; Chen, Wen-Jer; Park, Chun-Kun; Lee, Chong-Suh; Foocharoen, Thanit; Nagashima, Hideki; Kuh, Sunguk; Zheng, Zhaomin; Condor, Richard; Ito, Manabu; Iwasaki, Motoki; Jeong, Je Hoon; Luk, Keith D. K.; Prijambodo, Bambang; Rege, Amol; Jahng, Tae-Ahn; Luo, Zhuojing; Tassanawipas, Warat; Acharya, Narayana; Pokharel, Rohit; Shen, Yong; Ito, Takui; Zhang, Zhihai; Aithala P, Janardhana; Kumar, Gomatam Vijay; Jabir, Rahyussalim Ahmad; Basu, Saumyajit; Li, Baojun; Moudgil, Vishal; Sham, Phoebe; Samartzis, Dino

2015-01-01

Study Design A multinational, multiethnic, cross-sectional image-based study was performed in 33 institutions, representing 10 countries, which were part of the AOSpine Asia Pacific Research Collaboration Consortium. Objective Lumbar facet joint orientation has been reported to be associated with the development of degenerative spondylolisthesis (DS). The role of ethnicity regarding facet joint orientation remains uncertain. As such, the following study was performed across a wide-ranging population base to assess the role of ethnicity in facet joint orientation in patients with DS in the Asia Pacific region. Methods Lateral standing X-rays and axial magnetic resonance imaging scans were obtained for patients with lumbar DS. The DS parameters and facet joint angulations were assessed from L3–S1. Sex, age, body mass index (BMI), and ethnicity were also noted. Results The study included 371 patients with known ethnic origin (mean age: 62.0 years; 64% males, 36% females). The mean BMI was 25.6 kg/m2. The level of DS was most prevalent at L4–L5 (74.7%). There were 28.8% Indian, 28.6% Japanese, 18.1% Chinese, 8.6% Korean, 6.5% Thai, 4.9% Caucasian, 2.7% Filipino, and 1.9% Malay patients. Variations in facet joint angulations were noted from L3 to S1 and between patients with and without DS (p < 0.05). No differences were noted with regards to sex and overall BMI to facet joint angulations (p > 0.05); however, increasing age was found to increase the degree of angulation throughout the lumbar spine (p < 0.05). Accounting for age and the presence or absence of DS at each level, no statistically significant differences between ethnicity and degree of facet joint angulations from L3–L5 were noted (p > 0.05). Ethnic variations were noted in non-DS L5–S1 facet joint angulations, predominantly between Caucasian, Chinese, and Indian ethnicities (p < 0.05). Conclusions This study is the first to suggest that ethnicity may not play a role in facet joint orientation in the majority of cases of DS in the Asia-Pacific region. Findings from this study may facilitate future comparative studies in other multiethnic populations. An understanding of ethnic variability may assist in identifying those patients at risk of postsurgical development or progression of DS. This study also serves as a model for large-scale multicenter studies across different ethnic groups and cultural boundaries in Asia. PMID:26835200

Advanced chronic kidney disease in non-valvular atrial fibrillation: extending the utility of R2CHADS2 to patients with advanced renal failure.

PubMed

Bautista, Josef; Bella, Archie; Chaudhari, Ashok; Pekler, Gerald; Sapra, Katherine J; Carbajal, Roger; Baumstein, Donald

2015-04-01

The R2CHADS2 is a new prediction rule for stroke risk in atrial fibrillation (AF) patients wherein R stands for renal risk. However, it was created from a cohort that excluded patients with advanced renal failure (defined as glomerular filtration rate of <30 mL/min). Our study extends the use of R2CHADS2 to patients with advanced renal failure and aims to compare its predictive power against the currently used CHADS and CHA2DS2VaSc. This retrospective cohort study analyzed the 1-year risk for stroke of the 524 patients with AF at Metropolitan Hospital Center. AUC and C statistics were calculated using three groups: (i) the entire cohort including patients with advanced renal failure, (ii) a cohort excluding patients with advanced renal failure and (iii) all patients with GFR < 30 mL/min only. R2CHADS2, as a predictor for stroke risk, consistently performs better than CHADS2 and CHA2DS2VsC in groups 1 and 2. The C-statistic was highest in R2CHADS compared with CHADS or CHADSVASC in group 1 (0.718 versus 0.605 versus 0.602) and in group 2 (0.724 versus 0.584 versus 0.579). However, there was no statistically significant difference in group 3 (0.631 versus 0.629 versus 0.623). Our study supports the utility of R2CHADS2 as a clinical prediction rule for stroke risk in patients with advanced renal failure.

Dramatically reduced surface expression of NK cell receptor KIR2DS3 is attributed to multiple residues throughout the molecule.

PubMed

VandenBussche, C J; Mulrooney, T J; Frazier, W R; Dakshanamurthy, S; Hurley, C K

2009-03-01

Using flow cytometry, fluorescent microscopy and examination of receptor glycosylation status, we demonstrate that an entire killer cell immunoglobulin-like receptor (KIR) locus (KIR2DS3)--assumed earlier to be surface expressed--appears to have little appreciable surface expression in transfected cells. This phenotype was noted for receptors encoded by three allelic variants including the common KIR2DS3*001 allele. Comparing the surface expression of KIR2DS3 with that of the better-studied KIR2DS1 molecule in two different cell lines, mutational analysis identified multiple polymorphic amino-acid residues that significantly alter the proportion of molecules present on the cell surface. A simultaneous substitution of five residues localized to the leader peptide (residues -18 and -7), second domain (residues 123 and 150) and transmembrane region (residue 234) was required to restore KIR2DS3 to the expression level of KIR2DS1. Corresponding simultaneous substitutions of KIR2DS1 to the KIR2DS3 residues resulted in a dramatically decreased surface expression. Molecular modeling was used to predict how these substitutions contribute to this phenotype. Alterations in receptor surface expression are likely to affect the balance of immune cell signaling impacting the characteristics of the response to pathogens or malignancy.

Effect of prior insemination of dead sperm and gestation housing management on gilt fertility.

PubMed

Mazzoni, C; De Rensis, F; Kirkwood, R N

2018-05-19

Danbred gilts at about 120 kg were group housed for estrous detection. At detection of estrus, gilts either remained in pens (P) or were re-housed into individual gestation stalls (S) and were inseminated (DS), or not (SC), with a dose of frozen/thawed dead semen. Groups were P-DS (n = 81), P-SC (n = 70), S-DS (n = 98) and S-SC (n = 90). All gilts were inseminated with semen containing viable sperm at the second detected estrus and 24 h later. Pregnant gilts that were stall housed were moved to pens 35 d after insemination. There were no effects of insemination or housing management on farrowing rates or litter sizes. Copyright © 2018. Published by Elsevier B.V.

Children's dental fear and anxiety: exploring family related factors.

PubMed

Wu, Lingli; Gao, Xiaoli

2018-06-04

Dental fear and anxiety (DFA) is a major issue affecting children's oral health and clinical management. This study investigates the association between children's DFA and family related factors, including parents' DFA, parenting styles, family structure (nuclear or single-parent family), and presence of siblings. A total of 405 children (9-13 years old) and their parents were recruited from 3 elementary schools in Hong Kong. Child's demographic and family-related information was collected through a questionnaire. Parents' and child's DFA were measured by using the Corah Dental Anxiety Scale (CDAS) and Children Fear Survey Schedule-Dental Subscale (CFSS-DS), respectively. Parenting styles were gauged by using the Parent Authority Questionnaire (PAQ). DFA was reported by 33.1% of children. The mean (SD) CFSS-DS score was 29.1 (11.0). Children with siblings tended to report DFA (37.0% vs. 24.1%; p = 0.034) and had a higher CFSS-DS score (29.9 vs. 27.4; p = 0.025) as compared with their counterpart. Children from single-parent families had lower CFSS-DS score as compared with children from nuclear families (β = - 9.177; p = 0.029). Subgroup analysis showed a higher CFSS-DS score among boys with siblings (β = 7.130; p = 0.010) as compared with their counterpart; girls' from single-parent families had a lower CFSS-DS score (β = - 13.933; p = 0.015) as compared with girls from nuclear families. Children's DFA was not associated with parents' DFA or parenting styles (p > 0.05). Family structure (nuclear or single-parent family) and presence of siblings are significant determinants for children's DFA. Parental DFA and parenting style do not affect children's DFA significantly.

A cost-effectiveness analysis comparing different strategies to implement noninvasive prenatal testing into a Down syndrome screening program.

PubMed

Ayres, Alice C; Whitty, Jennifer A; Ellwood, David A

2014-10-01

Currently, noninvasive prenatal testing (NIPT) is only recommended in high-risk women following conventional Down syndrome (DS) screening, and it has not yet been included in the Australian DS screening program. To evaluate the cost-effectiveness of different strategies of NIPT for DS screening in comparison with current practice. A decision-analytic approach modelled a theoretical cohort of 300,000 singleton pregnancies. The strategies compared were the following: current practice, NIPT as a second-tier investigation, NIPT only in women >35 years, NIPT only in women >40 years and NIPT for all women. The direct costs (low and high estimates) were derived using both health system costs and patient out-of-pocket expenses. The number of DS cases detected and procedure-related losses (PRL) were compared between strategies. The incremental cost per case detected was the primary measure of cost-effectiveness. Universal NIPT costs an additional $134,636,832 compared with current practice, but detects 123 more DS cases (at an incremental cost of $1,094,608 per case) and avoids 90 PRL. NIPT for women >40 years was the most cost-effective strategy, costing an incremental $81,199 per additional DS case detected and avoiding 95 PRL. The cost of NIPT needs to decrease significantly if it is to replace current practice on a purely cost-effectiveness basis. However, it may be beneficial to use NIPT as first-line screening in selected high-risk patients. Further evaluation is needed to consider the longer-term costs and benefits of screening. © 2014 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

Physical activity patterns in children with and without Down syndrome.

PubMed

Whitt-Glover, Melicia C; O'Neill, Kristen L; Stettler, Nicolas

2006-01-01

To describe physical activity (PA) patterns in children with Down syndrome (DS) compared to their unaffected siblings. Children with DS (n = 28) and their siblings (n = 30), between 3-10-years (mean +/- SD 7.1 +/- 2.1 years) participated in a nutrition and growth study. PA was measured over 7 days using accelerometers. Children with DS were younger (6.6 vs. 7.1 years) and heavier (BMI 18.4 vs. 16.7 kg m(-2)) than their siblings (p < 0.05). Overall, participants accumulated 2.5 hours per day in moderate- (MPA) and 59 min per day in vigorous-intensity activity (VPA), consistent with the current PA recommendations for children. Children with DS accumulated less VPA than their siblings (49.5 vs. 68.6 minutes per day; p = 0.04) and for shorter bouts (2.5 vs. 5.1 minutes per bout; p < 0.01), but spent similar time in MPA and low-intensity PA. Analyses adjusted for age, sex, race, ethnicity, income, maternal education and BMI showed similar results. Children with DS participated in less total and sustained VPA and had higher BMI levels compared with their siblings. Because children with DS have a tendency toward childhood obesity, increasing participation in VPA may be appropriate for prevention of obesity and promotion of lifelong health.

Comparative study of antimicrobial efficiency of metallurgical slags suitable for construction applications

NASA Astrophysics Data System (ADS)

Strigac, J.; Stevulova, N.; Mikusinec, J.; Varecka, L.; Hudecova, D.

2017-10-01

The article deals with comparative study of antimicrobial efficiency of metallurgical slags suitable for construction applications. The tested slags were as follows: granulated blast-furnace slag (GS1), air cooled blast-furnace slag (AS2), demetallized steel slag (DS3), calcerous ladle slag (LS4), slag from copper refining (CS5). The antimicrobial activity was tested on selected representatives of bacteria, yeasts, and filamentous fungi. The highest antibacterial activity possessed LS4, which intensely inhibited growth of bacteria with the lowest concentration of slag (10%) in the growth media. 100% inhibition of growth of some bacteria was observed only in slags LS4, DS3 and AS2 in concentrations 20% - 60% of slag. Antibacterial activity of slag samples was decreasing in the order: LS4 > DS3 > AS2 > GS1 > CS5. Growth of all model yeasts was 100% inhibited at as low concentration as 20% of slag GS1 and DS3, and 10% of slag LS4. Antiyeast activity of slags was decreasing in the order: LS4 > GS1 = DS3 > AS2 > CS5. Regarding that filamentous fungi were selectively sensitive to presence of slags, it is possible to determine only approximate order of inhibition effectiveness of slags to fungi: LS4 > GS1 = DS3 > AS2 = CS5.

The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome

PubMed Central

2013-01-01

Background An important developmental task is to learn to recognize another person as a source of information and to utilize this information as a method of learning about the surrounding world. This socially guided form of learning, referred to as social referencing, is critical for the development of children’s understanding of other people, themselves and their surrounding world. In the present project, the regulatory function of social referencing was examined in two genetic disorders that are characterized by differing patterns of socio-cognitive development: Down syndrome (DS) and Williams syndrome (WS). Methods Participants were 20 children with DS and 20 children with WS aged 42 to 71 months, matched on chronological age and gender. Each child participated in four studies: one study in which we examined performance in a social referencing paradigm and three studies in which we considered performance on tasks designed to tap each of three component abilities (initiating eye contact, gaze following and emotional responsivity) important for success in social referencing. Results The majority of children in both groups demonstrated positive behavioral responses regarding the stimulus in the Social Referencing task when the adult communicated a joyful message but did not regulate their own behavior in accordance with the adult’s expression of fear. Between-group differences were observed in both conditions, with most differences indicating more advanced socio-communicative competence for children with DS than for children with WS even though the overall intellectual abilities and receptive language abilities of the children with WS were significantly higher than were those of the children with DS. The results of follow-up studies indicated that children with DS were more likely to initiate eye contact (unsolicited) and to follow another person’s gaze in triadic situations than were children with WS. Neither group regulated their behavior in response to expressions of fear. Conclusions These findings provide new insight into the development of the social cognitive phenotypes associated with DS and WS. These social cognitive differences found during the preschool years likely contribute to the differing phenotypes observed later in life between individuals with DS and individuals with WS. PMID:23406787

Eyewitness recall and suggestibility in individuals with Down syndrome.

PubMed

Collins, D; Henry, L

2016-12-01

Many criminal justice professionals perceive the eyewitness skills of individuals with intellectual disabilities to be weaker than those of typically developing (TD) individuals. Down syndrome (DS) is one of the most common genetic causes of intellectual disabilities, yet there is no research addressing eyewitness skills in this population. This study examined the eyewitness recall and suggestibility of young people with DS. Young people with DS and mental age-matched TD children viewed a video of a non-violent petty crime and were subsequently asked to freely recall the event before being asked general and specific questions incorporating both misleading and non-leading prompts. Compared with mental age-matched TD individuals, young people with DS produced as much information, were just as accurate and were no more suggestible. The eyewitness memory skills of young people with DS are comparable to those of mental age-matched TD children. The implications of these findings for the forensic context and eyewitness memory are discussed. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Science in the clinic: a qualitative study of the positioning of MD-PhDs in the everyday clinical setting.

PubMed

Andreassen, Pernille; Christensen, Mette Krogh

2018-05-25

MD-PhDs have been hailed as significant to the advancement of medicine and health care. Yet when it comes to which positions MD-PhDs should be holding in the clinic and the academic world, there seems to be no real consensus. This article examines the ways in which a PhD-degree may contribute to medical doctors' professional practice in the clinic and discusses the positioning of MD-PhDs in the clinic. The study is explorative and qualitative, based on interviews with MD-PhDs, their physician colleagues without a PhD-degree, and their leaders. Positioning theory was applied as the analytical framework for data analysis. We found two opposing positions cutting across the groups of informants with one side critiquing the MD-PhDs for not doing enough research and for using the PhD-degree to climb the career ladder, while the other side emphasized the ways in which MD-PhDs increase the clinical focus on evidence-based medicine and integrate it with clinical decision making, thereby enhancing patient care. A debate is needed to establish more clearly how we wish to position MD-PhDs in the clinic, which in turn will give us a better idea of how many to educate and how to make better use of their competencies.

Killer cell immunoglobulin-like receptor gene diversity in the Tibetan ethnic minority group of China.

PubMed

Zhu, Bo-feng; Wang, Hong-dan; Shen, Chun-mei; Deng, Ya-jun; Yang, Guang; Wu, Qing-ju; Xu, Peng; Qin, Hai-xia; Fan, Shuan-liang; Huang, Ping; Deng, Li-bin; Lucas, Rudolf; Wang, Zhen-Yuan

2010-11-01

The aim of this study was to analyze killer immunoglobulin-like receptor (KIR) gene polymorphisms in the Tibetan ethnic minority of China. To that purpose, we have studied KIR gene frequencies and genotype diversities of 16 KIR genes and three pseudogenes (2DL1, 2DL2, 2DL3, 2DL4, 2DL5A, 2DL5B, 2DS1, 2DS2, 2DS3, 2DS4*001/002, 2DS4*003-007, 2DS5, 3DL1, 3DL2, 3DL3, 3DS1, 2DP1, 3DP1*001/002/004, and 3DP1*003) in a population sample of 102 unrelated healthy individuals of the Tibetan population living in Lhasa city, Tibet Autonomous Region of China. Tibetans mainly live in "the roof of the world," the Qinghai-Tibet Plateau of China and surrounding areas stretching from central Asia in the North and West to Myanmar and mainland China in the East, and India, Nepal, and Bhutan to the south. KIR gene frequencies and statistical parameters of Tibetan ethnic minority were calculated. Fifteen KIR genes were observed in the 102 tested Tibetan individuals with different frequencies. The allelic frequencies of the 15 KIR genes ranged from 0.06 to 0.86. In addition, KIR 2DL1, 2DL4, 3DL2, and 3DL3 were found to be present in every individual. Variable gene content, together with allelic polymorphisms, can result in individualized human KIR genotypes and haplotypes, with the A haplotypes being predominantly observed. The results of tested linkage disequilibrium (LD) among KIR genes demonstrated that KIR genes present a wide range of linkage disequilibrium. Moreover, a comparison of the population data of our study with previously published population data of other ethnic groups or areas was performed. The differences of allelic frequency distribution in KIR2DL2, 2DL3, 2DL5, 3DL1, 2DS1, 2DS2, 2DS3, 3DS1, and 2DP1 were statistically significant among different populations using the statistical method of the standard χ(2) test. In conclusion, the results of the present study can be valuable for enriching the Chinese ethnical gene information resources of the KIR gene pool and for anthological studies, as well as for KIR-related disease research. Copyright © 2010. Published by Elsevier Inc.

Immunoregulatory activity by daucosterol, a beta-sitosterol glycoside, induces protective Th1 immune response against disseminated Candidiasis in mice.

PubMed

Lee, Jue-Hee; Lee, Ju Young; Park, Ji Hye; Jung, Hye Sil; Kim, Ju Sun; Kang, Sam Sik; Kim, Yeong Shik; Han, Yongmoon

2007-05-10

In the present study, we investigated immunomodulatory effect of daucosterol, a beta-sitosterol glycoside, against disseminated candidiasis caused by Candida albicans. Results showed that direct interaction of daucosterol with C. albicans yeast cells resulted in no growth-inhibition by in vitro susceptibility analysis. In contrast, mice given daucosterol (DS) intraperitoneally before intravenous challenge with live C. albicans yeast cells survived longer than DS-untreated control mice against disseminated candidiasis (P<0.05). By assessment of the fungal CFU in kidneys, DS-treated mice before the challenge developed about 81% fewer kidney CFU than untreated controls. This protection was removable by pretreatment of mice with anti-CD4+ antibody before the DS-treatment and challenge with the yeast. However, the protection was transferable by the CD4+ T cells from DS-treated mice not infected with the yeast. ELISA analysis revealed there were predominant production of IFNgamma and IL-2 cytokines as compared to IL-4, and IL-10 productions in DS-treated mice. By treatment of DS-given mice with anti-mouse IFNgamma, the protection was also abolished. Our studies show that DS protects mice against disseminated candidiasis by the CD4+ Th1 immune response.

Poly(hydroxyethyl methacrylate) based affinity membranes for in vitro removal of anti-dsDNA antibodies from SLE plasma.

PubMed

Uzun, Lokman; Yavuz, Handan; Osman, Bilgen; Celik, Hamdi; Denizli, Adil

2010-07-01

The preparation of polymeric membrane using affinity technology for application in blood filtration devices is described here. DNA attached poly(hydroxyethyl methacrylate) (PHEMA) based microporous affinity membrane was prepared for selective removal of anti-dsDNA antibodies from systemic lupus erythematosus (SLE) patient plasma in in vitro. In order to further increase blood-compatibility of affinity membrane, aminoacid based comonomer N-methacryloyl-L-alanine (MAAL) was included in the polymerization recipe. PHEMAAL membrane was produced by a photopolymerization technique and then characterized by swelling tests and scanning electron microscope (SEM) studies. Blood-compatibility tests were also performed. The water swelling ratio of PHEMAAL membrane increased significantly (133.2%) compared with PHEMA (58%). PHEMAAL membrane has large pores around in the range of 5-10 microm. All the clotting times increased when compared with PHEMA membrane. Loss of platelets and leukocytes was very low. DNA loading was 7.8 mg/g. There was a very low anti-dsDNA-antibody adsorption onto the plain PHEMAAL membrane, about 78 IU/g. The PHEMAAL-DNA membrane adsorbed anti-dsDNA-antibody in the range of 10-68 x 10(3)IU/g from SLE plasma. Anti-dsDNA-antibody concentration decreased significantly from 875 to 144 IU/ml with the time. Anti-dsDNA-antibodies could be repeatedly adsorbed and eluted without noticeable loss in the anti-dsDNA-antibody adsorption amount. (c) 2010 Elsevier B.V. All rights reserved.

Simultaneous binding to the tracking strand, displaced strand and the duplex of a DNA fork enhances unwinding by Dda helicase

PubMed Central

Aarattuthodiyil, Suja; Byrd, Alicia K.; Raney, Kevin D.

2014-01-01

Interactions between helicases and the tracking strand of a DNA substrate are well-characterized; however, the role of the displaced strand is a less understood characteristic of DNA unwinding. Dda helicase exhibited greater processivity when unwinding a DNA fork compared to a ss/ds DNA junction substrate. The lag phase in the unwinding progress curve was reduced for the forked DNA compared to the ss/ds junction. Fewer kinetic steps were required to unwind the fork compared to the ss/ds junction, suggesting that binding to the fork leads to disruption of the duplex. DNA footprinting confirmed that interaction of Dda with a fork leads to two base pairs being disrupted whereas no disruption of base pairing was observed with the ss/ds junction. Neutralization of the phosphodiester backbone resulted in a DNA-footprinting pattern similar to that observed with the ss/ds junction, consistent with disruption of the interaction between Dda and the displaced strand. Several basic residues in the 1A domain which were previously proposed to bind to the incoming duplex DNA were replaced with alanines, resulting in apparent loss of interaction with the duplex. Taken together, these results suggest that Dda interaction with the tracking strand, displaced strand and duplex coordinates DNA unwinding. PMID:25249618

Down Syndrome: Gestational Age-Related Neonatal Anthropometrics for Germany.

PubMed

Hoffmann, Paul F; Jung, Anna-Maria; Stierkorb, Eva; Monz, Dominik; Gortner, Ludwig; Rohrer, Tilman R

2016-01-01

Neonates with Down syndrome (DS) weigh less, are smaller and have increased first-year mortality, especially if born small for gestational age (GA). DS-specific GA-related neonatal anthropometrics for Germany are lacking. To construct reference tables and centile curves for birth weight (g), crown-heel length (cm) and head circumference (cm) by sex and GA for German DS neonates. Retrospective anthropometric data from live-born singleton DS neonates born in Germany from January 1966 to June 2010 were collected using standardized questionnaires and patient records. Reference tables were created based on means and standard deviations. The 3rd, 10th, 25th, 50th, 75th, 90th and 97th centile curves were constructed and smoothed using running medians and Cole's LMS method. Anthropometric measurements were obtained for 1,304 DS neonates [males/females: 713/591 (54.7%/45.3%)]. Reference tables and centile charts were constructed from 3,542 (males/females: 1,932/1,610) observations for GA 32-41 weeks. Compared with general-population newborns, prematurity was increased (21.1 vs. 6.3%) at GA 32-36 weeks. Term-born (GA 40 weeks) male and female DS neonates were 352.5 and 223.5 g lighter and 1.5 and 1.4 cm smaller than general-population neonates, and head circumference was also 1.4 and 1.5 cm smaller, respectively. This is the first study to report GA-related, sex-specific reference tables and centile charts of birth weight, length and head circumference for DS neonates born in Germany. Compared with the general German population, DS newborns are more frequently born prematurely, weigh less, are smaller and have a smaller head circumference at birth. © 2016 S. Karger AG, Basel.

Intermittent and daily smokers' subjective responses to smoking.

PubMed

Shiffman, Saul; Terhorst, Lauren

2017-10-01

One third of US smokers are intermittent smokers (ITS) who do not smoke daily. Unlike daily smokers (DS), whose smoking is negatively reinforced by withdrawal relief, ITS may be motivated by immediate positive reinforcement. In contrast, incentive salience theory posits hypothesis that "liking" of drug effects fades in established users, such as DS. This study aims to compare ITS' and DS' hedonic responses to smoking. Participants were 109 ITS (smoking 4-27 days/month) and 52 DS (smoking daily 5-25 cigarettes/day), aged ≥21, smoking ≥3 years, and not quitting smoking. For 3 weeks, participants engaged in ecological momentary assessment, carrying an electronic diary that asked them to rate their most recent smoking experience on 0-100 visual analog scales (satisfaction, enjoyment [averaged as "pleasure"], feeling sick, feeling a "rush," enjoying upper respiratory sensations, and immediate craving relief). Hierarchical random effect regression analyzed 4476 ratings. ITS found smoking pleasurable (mean = 69.7 ± 1.7 [SE]) but significantly less so than DS did (77.6 ± 2.3; p < 0.006). ITS also reported more aversive response (ITS 18.2 ± 1.4, DS 11.6 ± 2.0; p < 0.007). Even though ITS are more likely to smoke at bars/restaurants, when drinking alcohol, or when others were present, they did not report more pleasure in these settings (compared to DS). More extensive smoking experience was unrelated to craving or smoking effects among DS, but predicted greater craving, greater pleasure, and less aversion among ITS. The findings were largely inconsistent with incentive-salience models of drug use.

Spatial-simultaneous working memory and selective interference in Down syndrome.

PubMed

Lanfranchi, Silvia; Mammarella, Irene C; Carretti, Barbara

2015-01-01

Several studies have suggested that individuals with Down syndrome (DS) have impairments in some aspects of the visuospatial domain. It has been reported that they are particularly impaired in the spatial-simultaneous working memory (WM) even in advantageous conditions such as when information is grouped to form a configuration. This study aimed to assess the performance of individuals with DS carrying out a spatial-simultaneous WM task in single and dual selective interference conditions in order to better explore the characteristics of their impairment in this area. Groups of individuals with DS and mentally age-matched typically developing (TD) children were asked to carry out a spatial-simultaneous WM task in a single- and in two dual-task conditions. In the single condition, the participants were required to recall an increasing number of positions of red squares presented simultaneously in a matrix. In the dual-task conditions, together with the spatial-simultaneous WM task, the participants were asked to carry out an articulatory suppression task or a tapping task. As has already been shown in other studies, individuals with DS were found to be impaired in carrying out a spatial-simultaneous WM task and showed a worse performance with respect to the TD group in both the conditions. These findings indicate that individuals with DS use the same coding modality as TD children of the same mental age. Just as the TD children, they performed lower in the dual- than in the single-task condition and there was no difference between the verbal and visuospatial conditions.

Research review: reading comprehension in developmental disorders of language and communication.

PubMed

Ricketts, Jessie

2011-11-01

Deficits in reading airment (SLI), Down syndrome (DS) and autism spectrum disorders (ASD). In this review (based on a search of the ISI Web of Knowledge database to 2011), the Simple View of Reading is used as a framework for considering reading comprehension in these groups. There is substantial evidence for reading comprehension impairments in SLI and growing evidence that weaknesses in this domain are common in DS and ASD. Further, in these groups reading comprehension is typically more impaired than word recognition. However, there is also evidence that some children and adolescents with DS, ASD and a history of SLI develop reading comprehension and word recognition skills at or above the age appropriate level. This review of the literature indicates that factors including word recognition, oral language, nonverbal ability and working memory may explain reading comprehension difficulties in SLI, DS and ASD. In addition, it highlights methodological issues, implications of poor reading comprehension and fruitful areas for future research. © 2011 The Author. Journal of Child Psychology and Psychiatry © 2011 Association for Child and Adolescent Mental Health.

Salivary density of Streptococcus mutans and Streptococcus sobrinus and dental caries in children and adolescents with Down syndrome.

PubMed

Scalioni, Flávia; Carrada, Camila; Machado, Fernanda; Devito, Karina; Ribeiro, Luiz Cláudio; Cesar, Dionéia; Ribeiro, Rosangela

2017-01-01

To assess and compare dental caries experience and salivary S. mutans, S. sobrinus, and streptococci counts between groups of Down syndrome and non-Down syndrome children and adolescents. This study included a sample of 30 Down syndrome children and adolescents (G-DS) and 30 age- and sex-matched non-Down syndrome subjects (G-ND). Dental caries experience was estimated by the number of decayed, missing, and filled teeth in the primary dentition and the permanent dentition. Unstimulated whole saliva samples were collected from all participants. The fluorescence in situ hybridization technique was used to identify the presence and counts of the bacteria. The statistical analysis included chi-square, Student's t-test and Spearman's correlation. The G-DS exhibited a significantly higher caries-free rate (p<0.001) and a lower S. mutans salivary density (p<0.001). No significant differences were found in the salivary densities of S. sobrinus or streptococci between the groups (p=0.09 and p=0.21, respectively). The salivary S. mutans or S. sobrinus densities were not associated with dental caries experience in neither group. The reduced dental caries experience observed in this group of Down syndrome children and adolescents cannot be attributed to lower salivary S. mutans densities, as determined with the fluorescence in situ hybridization technique.

Enhanced efficacy of synergistic combinations of antimicrobial peptides with caspofungin versus Candida albicans in insect and murine models of systemic infection.

PubMed

MacCallum, D M; Desbois, A P; Coote, P J

2013-08-01

The objective of this study was to determine whether combinations of antimicrobial peptides (AMPs) with caspofungin display enhanced antifungal activity versus Candida albicans in vitro and in vivo. Three conventional AMPs that satisfied criteria favouring their potential development as novel antifungals were selected for investigation. Colistin sulphate was also included as a cyclic peptide antibiotic used in the clinic. Minimum inhibitory concentrations (MICs) were determined for each antifungal agent and checkerboard assays were used to determine fractional inhibitory concentration index (FICI) values for dual combinations of AMPs or colistin with caspofungin. Viability assays were performed for the same combinations in order to investigate fungicidal interactions. Synergistic antifungal combinations were then tested for efficacy in vivo and compared to monotherapies in wax moth larva and murine models of systemic C. albicans infection. In combination with caspofungin, each of the AMPs [hMUC7-12, DsS3(1-16), hLF(1-11)] and colistin were synergistic and candidacidal in vitro. The treatment of infected wax moth larvae with combinations of caspofungin with hMUC7-12, DsS3(1-16) or colistin resulted in significant enhancements in survival compared to treatment with monotherapies. Notably, the treatment of C. albicans-infected mice with a combination of caspofungin and DsS3(1-16) resulted in the enhancement of survival compared to groups treated with just the individual agents. This study demonstrates that combination therapies containing caspofungin and AMPs or colistin merit further development as potential novel treatments for C. albicans infections.

A Qualitative Analysis of Imitation Performances of Preschoolers With Down Syndrome.

PubMed

Vanvuchelen, Marleen

2016-05-01

A number of studies suggest that imitation is a characteristic strength in children with Down Syndrome (DS). The present study aims to discover whether imitation performances are qualitatively phenotypical in DS. Eight preschoolers with DS were matched on chronological, mental, language and imitation age with 8 preschoolers with intellectual disability of undifferentiated etiology (ID-UND). Imitation performances on the Preschool Imitation and Praxis Scale were videotaped for blind scoring on 30 possible errors. Children with DS made fewer production errors (synkinesias, OR 0.3 [0.1-0.7]), but more conceptual errors (substitution, OR 2.5 [1.6-3.9]) compared to children with ID-UND. This finding is in line with the view of a cognitive phenotype in DS, which is characterized by preserved visuospatial and impaired language abilities.

Penetration enhancement of ibuprofen from supersaturated solutions through human skin.

PubMed

Iervolino, M; Cappello, B; Raghavan, S L; Hadgraft, J

2001-01-05

Systematic investigations on the diffusion of ibuprofen (IBU) from supersaturated solutions through human epidermis are reported. Significant flux enhancement was obtained from supersaturated solutions compared to the saturated solution. Hydroxypropyl methylcellulose (HPMC), when used as an additive was found to be effective in maintaining the high activity state at high degrees of saturation (DS). The increase in the flux was proportional to the DS. In the presence of 2-hydroxypropyl-beta-cyclodextrin (CD) at DS 2 and 3 a lower flux was observed compared to HPMC. At DS 5 a higher flux enhancement was found suggesting that CD might act as a penetration enhancer at certain CD/drug ratios. Studies on the mechanism of stabilisation of HPMC and CD on IBU crystallisation from supersaturated systems showed that HPMC acts as a growth inhibitor and habit modifier whereas CD does not influence the crystallisation process.

Depressive symptoms and responses to cigarette pack warning labels among Mexican smokers

PubMed Central

Thrasher, James F.; Cayir, Ebru; Hardin, James W.; Perez-Hernandez, Rosaura; Froeliger, Brett

2016-01-01

Objective we examine whether having depressive symptoms (DS) is associated with different responses to cigarette package health warning labels (HWLs) before and after the implementation of pictorial HWLs in Mexico. Methods we analyze data from adult smokers from Wave 4 and Wave 5 (n=1340) of the International Tobacco Control Policy Evaluation Project in Mexico. Seven CES-D items assessed DS, with scores ≥ 7 indicating elevated DS. Outcomes included: attention to HWLs; cognitive responses to HWLs; tobacco constituents awareness; putting off smoking due to HWLs; avoidance of HWLs; and awareness of telephone support for cessation (i.e., quitlines). Mixed effects models were used to assess main and interactive effects of DS and time (i.e., survey wave) on each outcome. Results all HWL responses increased over time, except putting off smoking. Statistically significant interactions were found between DS and time for models of tobacco constituents awareness (b=−0.36, SE= 0.15, p=.022); putting off smoking (OR=0.41, 95% CI 0.25, 0.66); avoidance of HWLs (OR=1.84, 95% 1.03, 3.29); and quitline awareness (OR=0.35, 95% CI 0.21, 0.56). Compared to smokers with low DS, smokers with elevated DS reported stronger HWL responses at baseline; however, HWL responses increased over time among smokers with low DS, whereas HWL responses showed little or no change among smokers with elevated DS. Discussion population-level increases in HWL responses after pictorial HWLs were introduced in Mexico appeared mostly limited to smokers with low DS. In general, however, smokers with elevated DS reported equivalent or stronger HWL responses than smokers with low DS. PMID:26867043

Preventable visual impairment in children 
with nonprofound intellectual disability.

PubMed

Aslan, Lokman; Aslankurt, Murat; Aksoy, Adnan; Altun, Hatice

2013-01-01

To assess the preventable visual impairment in children with nonprofound intellectual disability (ID). 
 A total of 215 children with IDs (90 Down syndrome [DS], 125 nonprofound ID) and 116 age- and sex-matched healthy subjects were enrolled in this study. All participants underwent ophthalmologic examinations including cycloplegic refraction measurements, ocular movement evaluation, screening for strabismus (Hirschberg, Krimsky, or prism cover test), slit-lamp biomicroscopy, funduscopy, and intraocular pressure measurements. All data were recorded for statistical analysis.
 Ocular findings in decreasing prevalence were as follows: refractive errors 55 (61.1%), strabismus 30 (33.2%), cataract 7 (7.8%), and nystagmus 7 (7.8%) in children with DS; refractive errors 57 (45.6%), strabismus 19 (15.2%), cataract 7 (6.4%), nystagmus 5 (4%), and glaucoma 1 (0.8%) in children with other ID; and refractive errors 13 (11.2%) and strabismus 4 (3.5%) in controls. Cataracts, glaucoma, and nystagmus were not observed in the control group. The most common ophthalmic findings in children with DS compared with other ID and controls were with hyperopia (p<0.03 and 
p<0.001, respectively) and esotropia (p<0.01 and p<0.01, respectively).
 The pediatric population with ID has a high prevalence of preventable visual impairments, refractive errors, strabismus, and cataracts. The prevalence of strabismus and refractive errors was more frequent in children with DS. The importance of further health screenings including ophthalmic examinations should be utilized to implement appropriate care management and improve quality of life.

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio- facial/DiGeorge/22q11.2 deletion syndrome patients

PubMed Central

Guo, Tingwei; McGinn, Donna McDonald; Blonska, Anna; Shanske, Alan; Bassett, Anne; Chow, Eva; Bowser, Mark; Sheridan, Molly; Beemer, Frits; Devriendt, Koen; Swillen, Ann; Breckpot, Jeroen; Digilio, M. Cristina; Marino, Bruno; Dallapiccola, Bruno; Carpenter, Courtney; Zheng, Xin; Johnson, Jacob; Chung, Jonathan; Higgins, Anne Marie; Philip, Nicole; Simon, Tony J.; Coleman, Karlene; Heine-Suner, Damian; Rosell, Jordi; Kates, Wendy; Devoto, Marcella; Goldmuntz, Elizabeth; Zackai, Elaine; Wang, Tao; Shprintzen, Robert; Emanuel, Beverly; Morrow, Bernice

2011-01-01

Haploinsufficiency of TBX1, encoding a T-box transcription factor, is largely responsible for the physical malformations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome (22q11DS) patients. Cardiovascular malformations in these patients are highly variable, raising the question as to whether DNA variations in the TBX1 locus on the remaining allele of 22q11.2, could be responsible. To test this, a large sample size is needed. The TBX1 gene was sequenced in 360 consecutive 22q11DS patients. Rare and common variations were identified. We did not detect enrichment in rare SNP number in those with or without a congenital heart defect. One exception was that there was increased number of very rare SNPs between those with normal heart anatomy compared to those with right-sided aortic arch or persistent truncus arteriosus, suggesting potentially protective roles in the SNPs for these phenotype enrichment groups. Nine common SNPs (MAF >0.05) were chosen and used to genotype the entire cohort of 1,022 22q11DS subjects. We did not find a correlation between common SNPs or haplotypes and cardiovascular phenotype. This work demonstrates that common DNA variations in TBX1 do not explain variable cardiovascular expression in 22q11DS patients, implicating existence of modifiers in other genes on 22q11.2 or elsewhere in the genome. PMID:21796729

Dextran sulfate nanoparticles as a theranostic nanomedicine for rheumatoid arthritis.

PubMed

Heo, Roun; You, Dong Gil; Um, Wooram; Choi, Ki Young; Jeon, Sangmin; Park, Jong-Sung; Choi, Yuri; Kwon, Seunglee; Kim, Kwangmeyung; Kwon, Ick Chan; Jo, Dong-Gyu; Kang, Young Mo; Park, Jae Hyung

2017-07-01

With the aim of developing nanoparticles for targeted delivery of methotrexate (MTX) to inflamed joints in rheumatoid arthritis (RA), an amphiphilic polysaccharide was synthesized by conjugating 5β-cholanic acid to a dextran sulfate (DS) backbone. Due to its amphiphilic nature, the DS derivative self-assembled into spherical nanoparticles (220 nm in diameter) in aqueous conditions. The MTX was effectively loaded into the DS nanoparticles (loading efficiency: 73.0%) by a simple dialysis method. Interestingly, the DS nanoparticles were selectively taken up by activated macrophages, which are responsible for inflammation and joint destruction, via scavenger receptor class A-mediated endocytosis. When systemically administrated into mice with experimental collagen-induced arthritis (CIA), the DS nanoparticles effectively accumulated in inflamed joints (12-fold more than wild type mice (WT)), implying their high targetability to RA tissues. Moreover, the MTX-loaded DS nanoparticles exhibited significantly improved therapeutic efficacy against CIA in mice compared to free MTX alone. Overall, the data presented here indicate that DS nanoparticles are potentially useful nanomedicines for RA imaging and therapy. Copyright © 2017 Elsevier Ltd. All rights reserved.

Occurrence of dsRNA Mycovirus (LeV-FMRI0339) in the Edible Mushroom Lentinula edodes and Meiotic Stability of LeV-FMRI0339 among Monokaryotic Progeny

PubMed Central

Kim, Jung-Mi; Yun, Suk-Hyun; Park, Seung-Moon; Ko, Han-Gyu; Kim, Dae-Hyuk

2013-01-01

dsRNA was found in malformed cultures of Lentinula edodes strain FMRI0339, one of the three most popular sawdust cultivated commercial strains of shiitake, and was also found in healthy-looking fruiting bodies and actively growing mycelia. Cloning of the partial genome of the dsRNA revealed the presence of the RdRp sequence of a novel L. edodes mycovirus (LeV), and sequence comparison of the cloned amplicon showed identical sequences sequence to known RNA-dependent RNA polymerase genes of LeV found in strain HKA. The meiotic stability of dsRNA was examined by measuring the ratio of the presence of dsRNA among sexual monokaryotic progeny. More than 40% of the monokaryotic progeny still contained the dsRNA, indicating the persistence of dsRNA during sexual reproduction. Comparing the mycelia growth of monokaryotic progeny suggested that there appeared to be a tendency toward a lower frequency of virus incidence in actively growing progeny. PMID:25288977

Predictors of Dietary Supplement Use by U.S. Coast Guard Personnel

PubMed Central

Austin, Krista G.; Price, Lori Lyn; McGraw, Susan M.; Lieberman, Harris R.

2015-01-01

Background Personnel in Armed Forces entities such as the US Coast Guard (USCG) engage in strenuous tasks requiring high levels of physiological and psychological fitness. Previous reports have found increased prevalence of dietary supplement (DS) use by military personnel to meet the demands of their occupation. Objective This study assessed DS prevalence and patterns of use in USCG personnel and compared these findings to reports from other Armed Forces personnel. Design Use of DS by USCG personnel (n = 1059) was assessed by survey at USCG installations. Data were weighted by age, sex, and rank to be representative of total USCG demographics. Results Seventy percent of USCG personnel reported using a DS at least 1 time/wk. Thirty-three percent used 1–2 DS ≤ 1 time/wk, 18% 3–4 DS ≥ 1 time/wk, and almost 19% ≥ 5 DS ≥ 1 time/wk. Average expenditure on DSs by UCSG personnel was $40/mo. More than 47% of USCG personnel used a multivitamin and mineral, 33% consumed protein supplements, 22% used individual vitamins and minerals, 23% reported taking combination products, and 9% consumed herbal supplements. Increased use of DS use was associated with high intensity operational occupations, participating in high volumes of aerobic exercise and strength training. Use of DS was not associated with age, education or body mass index. Conclusion Occupation is an important determinate of DS use. Prevalence of DS use by USCG personnel is greater than reported for other Armed Forces personnel and reflects high levels of participation in aerobic and strength training activities. PMID:26230407

Predictors of Dietary Supplement Use by U.S. Coast Guard Personnel.

PubMed

Austin, Krista G; Price, Lori Lyn; McGraw, Susan M; Lieberman, Harris R

2015-01-01

Personnel in Armed Forces entities such as the US Coast Guard (USCG) engage in strenuous tasks requiring high levels of physiological and psychological fitness. Previous reports have found increased prevalence of dietary supplement (DS) use by military personnel to meet the demands of their occupation. This study assessed DS prevalence and patterns of use in USCG personnel and compared these findings to reports from other Armed Forces personnel. Use of DS by USCG personnel (n = 1059) was assessed by survey at USCG installations. Data were weighted by age, sex, and rank to be representative of total USCG demographics. Seventy percent of USCG personnel reported using a DS at least 1 time/wk. Thirty-three percent used 1-2 DS ≤ 1 time/wk, 18% 3-4 DS ≥ 1 time/wk, and almost 19% ≥ 5 DS ≥ 1 time/wk. Average expenditure on DSs by UCSG personnel was $40/mo. More than 47% of USCG personnel used a multivitamin and mineral, 33% consumed protein supplements, 22% used individual vitamins and minerals, 23% reported taking combination products, and 9% consumed herbal supplements. Increased use of DS use was associated with high intensity operational occupations, participating in high volumes of aerobic exercise and strength training. Use of DS was not associated with age, education or body mass index. Occupation is an important determinate of DS use. Prevalence of DS use by USCG personnel is greater than reported for other Armed Forces personnel and reflects high levels of participation in aerobic and strength training activities.

KPS/LDH index: a simple tool for identifying patients with metastatic melanoma who are unlikely to benefit from palliative whole brain radiotherapy.

PubMed

Partl, Richard; Fastner, Gerd; Kaiser, Julia; Kronhuber, Elisabeth; Cetin-Strohmer, Klaudia; Steffal, Claudia; Böhmer-Breitfelder, Barbara; Mayer, Johannes; Avian, Alexander; Berghold, Andrea

2016-02-01

Low Karnofsky performance status (KPS) and elevated lactate dehydrogenases (LDHs) as a surrogate marker for tumor load and cell turnover may depict patients with a very short life expectancy. To validate this finding and compare it to other indices, namely, the recursive partitioning analysis (RPA) and diagnosis-specific graded prognostic assessment (DS-GPA), a multicenter analysis was undertaken. A retrospective analysis of 234 metastatic melanoma patients uniformly treated with palliative whole brain radiotherapy (WBRT) was done. Univariate and multivariate analyses were used to determine the impact of patient-, tumor-, and treatment-related parameters on overall survival (OS). KPS and LDH emerged as independent factors predicting OS. By combining KPS and LDH values (KPS/LDH index), groups of patients with statistically significant differences in median OS (days; 95 % CI) after onset of WBRT were identified: group 1 (KPS ≥ 70/normal LDH) 234 (96-372), group 2 (KPS ≥ 70/elevated LDH) 112 (69-155), group 3 (KPS <70/normal LDH) 43 (12-74), and group 4 (KPS <70/elevated LDH) 29 (17-41). Between all four groups, statistically significant differences were observed. The RPA and DS-GPA indices failed to distinguish significantly between good and moderate prognosis and were inferior in predicting a very unfavorable prognosis. The parameters KPS and LDH independently impacted on OS. The combination of both (KPS/LDH index) identified patients with a very short life expectancy, who might be better served by recommending best supportive care instead of WBRT. The KPS/LDH index is simple and effective in terms of time and cost as compared to other prognostic indices.

Meta-analysis of CHADS2 versus CHA2DS2-VASc for predicting stroke and thromboembolism in atrial fibrillation patients independent of anticoagulation.

PubMed

Zhu, Wen-Gen; Xiong, Qin-Mei; Hong, Kui

2015-02-01

Two validated scoring systems for predicting embolic risk, CHADS2 and CHA2DS2-VASc, contribute to optimizing antithrombotic prescription practices in patients who have atrial fibrillation. However, data about anticoagulated patients are sparse. We compared CHADS2 and CHA2DS2-VASc, in terms of their predictive risk evaluation, in patients with atrial fibrillation who were and were not taking anticoagulants. We systematically searched the Cochrane Library, PubMed, and Embase databases for studies of the comparative diagnostic performance of CHADS2 and CHA2DS2-VASc. We identified 12 cohort studies for meta-analysis. With regard to the occurrence of cardiovascular events individually, patients with CHA2DS2-VASc scores ≥2 have a greater risk of stroke (risk ratio [RR]=5.15; 95% confidence interval [CI], 3.85-6.88; P <0.00001) and thromboembolism (RR=5.96; 95% CI, 5.50-6.45; P <0.00001) (P diff=0.34) than do patients with CHA2DS2-VASc scores <2, independent of anticoagulation therapy (RR=5.76; 95% CI, 5.23-6.35; P <0.00001 in anticoagulated patients; and RR=6.12; 95% CI, 5.40-6.93; P <0.00001 in patients not taking anticoagulants; P diff=0.45). The pooled RR estimates indicate an approximate 6-fold increase in the risk of endpoint events in patients with CHA2DS2-VASc scores ≥2 (RR=5.90; 95% CI, 5.46-6.37; P <0.0001). These results clearly indicate the discriminative capacity of the CHA2DS2-VASc score for stroke, thromboembolic events, or both, independent of optimal anticoagulation. The CHA2DS2-VASc score enables the identification of patients who are at genuinely high risk and can direct the selection of appropriate therapeutic approaches.

Late effects of early growth hormone treatment in Down syndrome.

PubMed

Myrelid, Å; Bergman, S; Elfvik Strömberg, M; Jonsson, B; Nyberg, F; Gustafsson, J; Annerén, G

2010-05-01

Down syndrome (DS) is associated with short stature and psychomotor delay. We have previously shown that growth hormone (GH) treatment during infancy and childhood normalizes growth velocity and improves fine motor skill performance in DS. The aim of this study was to investigate late effects of early GH treatment on growth and psychomotor development in the DS subjects from the previous trial. Twelve of 15 adolescents with DS (3 F) from the GH group and 10 of 15 controls (5 F) participated in this follow-up study. Fifteen other subjects with DS (6 F) were included as controls in anthropometric analyses. Cognitive function was assessed with the Leiter International Performance Scale-Revised (Leiter-R) and selected subtests of the Wechsler Intelligence Scale for Children, Third edition (WISC-III). The Bruininks-Oseretsky Test of Motor Proficiency, Second edition (BOT-2), was used to assess general motor ability. Although early GH treatment had no effect on final height, the treated subjects had a greater head circumference standard deviation score (SDS) than the controls (-1.6 SDS vs. -2.2 SDS). The adolescents previously treated with GH had scores above those of the controls in all subtests of Leiter-R and WISC-III, but no difference in Brief IQ-score was seen between the groups. The age-adjusted motor performance of all subjects was below -2 SD, but the GH-treated subjects performed better than the controls in all but one subtest. The combined finding of a greater head circumference SDS and better psychomotor performance indicates that DS subjects may benefit from early GH treatment.

Growth Charts for Children With Down Syndrome in the United States.

PubMed

Zemel, Babette S; Pipan, Mary; Stallings, Virginia A; Hall, Waynitra; Schadt, Kim; Freedman, David S; Thorpe, Phoebe

2015-11-01

Children with Down syndrome (DS) have lower birth weights and grow more slowly than children without DS. Advances in and increased access to medical care have improved the health and well-being of individuals with DS; however, it is unknown whether their growth has also improved. Our objective was to develop new growth charts for children with DS and compare them to older charts from the United States and more contemporary charts from the United Kingdom. The Down Syndrome Growing Up Study (DSGS) enrolled a convenience sample of children with DS up to 20 years of age and followed them longitudinally. Growth parameters were measured by research anthropometrists. Sex-specific growth charts were generated for the age ranges birth to 36 months and 2 to 20 years using the LMS method. Weight-for-length and BMI charts were also generated. Comparisons with other curves were presented graphically. New DSGS growth charts were developed by using 1520 measurements on 637 participants. DSGS growth charts for children <36 months of age showed marked improvements in weight compared with older US charts. DSGS charts for 2- to 20-year-olds showed that contemporary males are taller than previous charts showed. Generally, the DSGS growth charts are similar to the UK charts. The DSGS growth charts can be used as screening tools to assess growth and nutritional status and to provide indications of how growth of an individual child compares with peers of the same age and sex with DS. Copyright © 2015 by the American Academy of Pediatrics.

Growth Charts for Children With Down Syndrome in the United States

PubMed Central

Zemel, Babette S.; Pipan, Mary; Stallings, Virginia A.; Hall, Waynitra; Schadt, Kim; Freedman, David S.; Thorpe, Phoebe

2017-01-01

BACKGROUND AND OBJECTIVES Children with Down syndrome (DS) have lower birth weights and grow more slowly than children without DS. Advances in and increased access to medical care have improved the health and well-being of individuals with DS; however, it is unknown whether their growth has also improved. Our objective was to develop new growth charts for children with DS and compare them to older charts from the United States and more contemporary charts from the United Kingdom. METHODS The Down Syndrome Growing Up Study (DSGS) enrolled a convenience sample of children with DS up to 20 years of age and followed them longitudinally. Growth parameters were measured by research anthropometrists. Sex-specific growth charts were generated for the age ranges birth to 36 months and 2 to 20 years using the LMS method. Weight-for-length and BMI charts were also generated. Comparisons with other curves were presented graphically. RESULTS New DSGS growth charts were developed by using 1520 measurements on 637 participants. DSGS growth charts for children <36 months of age showed marked improvements in weight compared with older US charts. DSGS charts for 2- to 20-year-olds showed that contemporary males are taller than previous charts showed. Generally, the DSGS growth charts are similar to the UK charts. CONCLUSIONS The DSGS growth charts can be used as screening tools to assess growth and nutritional status and to provide indications of how growth of an individual child compares with peers of the same age and sex with DS. PMID:26504127

Nanoparticulate anatase TiO2 (TiO2 NPs) upregulates the expression of silkworm (Bombyx mori) neuropeptide receptor and promotes silkworm feeding, growth, and silking.

PubMed

Ni, Min; Zhang, Hua; Li, Fan Chi; Wang, Bin Bin; Xu, Kai Zun; Shen, Wei De; Li, Bing

2015-06-01

Bombyx mori orphan G protein-coupled receptor, BNGR-A4, is the specific receptor of B. mori neuropeptide F (BmNPFR, neuropeptide F designated NPF). BmNPFR binds specifically and efficiently to B. mori neuropeptides BmNPF1a and BmNPF1b, which activates the ERK1/2 signaling pathway to regulate B. mori food intake and growth. Titanium dioxide nanoparticles (TiO2 NPs) can promote B. mori growth. However, whether the mechanisms of TiO2 NPs' effects are correlated with BmNPFR remains unknown. In this study, the effects of TiO2 NPs (5mg/L) feeding and BmNPFR-dsRNA injection on B. mori food intake and growth were investigated; after TiO2 NPs treatments, B. mori food intake, body weight, and cocoon shell weight were 5.82%, 4.64%, and 9.30% higher, respectively, than those of controls. The food intake, body weight, and cocoon shell weight of the BmNPFR-dsRNA injection group were reduced by 8.05%, 6.28%, and 6.98%, respectively, compared to the control. After TiO2 NPs treatment for 72h, the transcriptional levels of BmNPFR, BmNPF1a, and BmNPF1b in the midgut were 1.58, 1.43, and 1.34-folds, respectively, of those of the control, but 1.99, 2.26, and 2.19-folds, respectively, of the BmNPFR-dsRNA injection group; the phosphorylation level of MAPK was 24.03% higher than the control, while the phosphorylation level of BmNPFR-dsRNA injection group was 71.00% of control. The results indicated that TiO2 NPs affect B. mori feeding and growth through increasing the expression of BmNPFR. This study helps clarify the roles of BmNPF/BmNPFR system in TiO2 NPs' effects on B. mori feeding, growth, and development. Copyright © 2015 Elsevier Inc. All rights reserved.

Solid-state dosimeters: A new approach for mammography measurements

DOE Office of Scientific and Technical Information (OSTI.GOV)

Brateman, Libby F., E-mail: bratel@radiology.ufl.edu; Heintz, Philip H.

2015-02-15

Purpose: To compare responses of modern commercially available solid-state dosimeters (SStDs) used in mammography medical physics surveys for two major vendors of current digital mammography units. To compare differences in dose estimates among SStD responses with ionization chamber (IC) measurements for several target/filter (TF) combinations and report their characteristics. To review scientific bases for measurements of quantities required for mammography for traditional measurement procedures and SStDs. Methods: SStDs designed for use with modern digital mammography units were acquired for evaluation from four manufacturers. Each instrument was evaluated under similar conditions with the available mammography beams provided by two modern full-fieldmore » digital mammography units in clinical use: a GE Healthcare Senographe Essential (Essential) and a Hologic Selenia Dimensions 5000 (Dimensions), with TFs of Mo/Mo, Mo/Rh; and Rh/Rh and W/Rh, W/Ag, and W/Al, respectively. Measurements were compared among the instruments for the TFs over their respective clinical ranges of peak tube potentials for kVp and half-value layer (HVL) measurements. Comparisons for air kerma (AK) and their associated relative calculated average glandular doses (AGDs), i.e., using fixed mAs, were evaluated over the limited range of 28–30 kVp. Measurements were compared with reference IC measurements for AK, reference HVLs and calculated AGD, for two compression paddle heights for AK, to evaluate scatter effects from compression paddles. SStDs may require different positioning from current mammography measurement protocols. Results: Measurements of kVp were accurate in general for the SStDs (within −1.2 and +1.1 kVp) for all instruments over a wide range of set kVp’s and TFs and most accurate for Mo/Mo and W/Rh. Discrepancies between measurements and reference values were greater for HVL and AK. Measured HVL values differed from reference values by −6.5% to +3.5% depending on the SStD and TF. AK measurements over limited (28–30) kVp’s ranged from −6% to +7% for SStDs, compared with IC reference values. Relative AGDs for each SStD using its associated measurements of kVp, HVL and AK underestimated AGD in nearly all cases, compared with reference IC values, with discrepancies of <−1% to ∼−10%. Some differences in AGD were related to differences in contributions of compression paddle scatter to AK measurements made by ICs. Applying measured factors for scatter effects in AK measurements for three SStDs reduced discrepancies between −6.2% and +1.3%, shifting AGDs from SStDs closer to IC AGDs. Conclusions: This study revealed that SStD measurements yielded good agreement with set kVp, poor agreement with standard HVL determinations, and AK measurements that were substantially different from IC measurements. Discrepancies are partly related to the scattered radiation measured by ICs in determining AK. As a result, IC measurements required for AGD, using currently accepted methodology, typically result in higher AGDs than SStDs, because current methodologies do not account for differing instrument responses to scatter. HVLs reported by SStDs contribute to discrepancies in calculated AGD that depend on kVp and TF. Medical physicists are encouraged to compare their results for SStD instruments using a similar methodology for potential discrepancies with their traditional instruments.« less

Efficacy of treatment with glucosamine sulfate in patients with knee effusion due to osteoarthritis

PubMed Central

Korkmaz, Murat; Karaaslan, Fatih; Erdogan, Yalcin; Bolat, Esef; Karacavus, Seyhan; Kizilkaya, Hafize; Gunaydin, Ilhan

2013-01-01

Objective: Evaluation of anti-inflammatory effect of Glucosamine sulfate (GS) versus diclofenac sodium (DS) in effusion of osteoarthritic knees. Methodology: In this study, patients were included in this study from 2007-2010 based on American College of Rheumatology criteria with OA and physical examination in effusion of osteoarthritic knees. The patients were divided into two groups. First group (27 patients) DS was given in doses 75 mg twice daily for ten day. In the group II (25 patients) GS was used in doses of 1500 mg two times daily over the first 12 weeks of the study. A closed aspiration was performed. The knee circumference was measured in patients before and 12 week after treatment. Before and after 12 weeks of treatments, both groups of patients were assessed according to the WOMAC questionnaire of knee pain and function scores. Results: Comparison of knee mean circumference between the two groups was not statistically significant before treatment (p=0.938), but significant after treatment (p<0.001). At the end of the 12 week, there was 66.6% complete resolution of effusion in the DS group (18 patients) and 24.0% (6 patients) in the GS group, this was statistically significant (P<0.001). DS groups, results of the beginning and at the end of 12 week measurement showed significant differences in WOMAC pain mean score (P < 0.001) but GS groups not statistically significant (P=0.160). The WOMAC function mean scores in pre and post-treatment periods of follow-up showed significant variation between the two groups (P< 0.001, P<0.001). Conclusions: Our observations suggest that GS is not able to suppress the progression of adjuvant arthritis in OA with effusion of knee osteoarthritis. GS should not be expected as anti-inflammatory influence as DF in the treatment of OA-related effusion. PMID:24353641

Efficacy of antimicrobial photodynamic therapy as an adjuvant in periodontal treatment in Down syndrome patients.

PubMed

Martins, Fabiana; Simões, Alyne; Oliveira, Marcio; Luiz, Ana Claudia; Gallottini, Marina; Pannuti, Claudio

2016-12-01

Down syndrome (DS) has characteristics that include mental retardation, a characteristic phenotype, congenital heart defects, immune disorders, and increased risk of periodontal disease (PD). Antimicrobial photodynamic therapy (aPDT) is the combined use of photosensitizers associated with low-level laser (LLL) and oxygen, leading to singlet oxygen formation, which contributes to the antibacterial activity of the phagocytes, killing bacteria. The objective of this study was to evaluate the efficacy of aPDT as an adjuvant to conventional periodontal treatment of PD in DS patients. A double-blinded, controlled, randomized, split-mouth study was conducted. A total of 13 DS subjects who were 18 years or older and who presented at least one tooth in each quadrant of the mouth with probing pocket depth (PPD) equal to or greater than 5 mm were included. The patients were evaluated at three different times: at the baseline, PPD were obtained. After 1 week, conventional scaling and root planing (SRP) was performed, and two randomly selected quadrants also received aPDT. One month after SRP, all the patients were reevaluated. Periodontal conditions were improved among all the participants. The PDT-with-SRP group presented a nonsignificant reduction in PPD (mean = 1.27 mm, median = 1.17 mm) relative to that of the SRP group (mean = 1.00 mm, median = 0.95 mm). Changes over time were compared using the Wilcoxon test. A significant reduction in median PPD was observed in both groups (p = 0.001). Both types of periodontal treatment, with and without PDT, were similarly effective and were associated with good clinical response.

Possible genetic defects in regulation of glycosaminoglycans in patients with diabetic nephropathy

DOE Office of Scientific and Technical Information (OSTI.GOV)

Deckert, T.; Horowitz, I.M.; Kofoed-Enevoldsen, A.

1991-06-01

The hypothesis of genetic defects in glycosaminoglycan (GAG) regulation among patients with insulin-dependent diabetes mellitus (IDDM) and nephropathy was assessed by studies in tissue cultures of fibroblasts obtained from 7 patients with normal urinary albumin excretion, 11 patients with diabetic nephropathy, and 6 nondiabetic control subjects. The incorporation of (2H) glucosamine and (35S) sulfate into hyaluronic acid (HA), chondroitin sulfate and dermatan sulfate (CS + DS), and heparan sulfate (HS) was measured in cells, matrix, and medium and related to micrograms of tissue protein. Large interindividual variations were seen in all three groups, and the incorporation of (3H) glucosamine intomore » HA, CS + DS, and HS and (35S) sulfate into CS + DS and HS were not significantly different between the three groups. However, the fractional incorporation of (3H)glucosamine into HS was significantly reduced in diabetic patients with nephropathy compared with control subjects. This was the case not only when related to the total amount of GAGs (P = 0.014) but also when related to HA (P = 0.014). No significant difference was seen between control subjects and normoalbuminuric diabetic patients. The degree of N-sulfation of HS was not significantly different between the experimental groups. The results suggest that patients with diabetic nephropathy may suffer from deficiencies of coordinate regulation in the biosynthesis of GAG in fibroblasts, which may lead to a reduced density of HS in the extracellular matrix. If these changes reflect alterations in the biosynthesis of GAG from endothelial, myomedial, and mesangial cells, this observation may be relevant for the pathogenesis of severe diabetic complications.« less

New materials for high temperature turbines; ONERA's DS composites confronted with blade problems

NASA Technical Reports Server (NTRS)

Bibring, H.

1977-01-01

ONERA's refractory DS composites were cited as materials required for use in advanced aircraft turbines, operating at high temperatures. These materials were found to be reliable in the construction of turbine blades. Requirements for a blade material in aircraft turbines operating at higher temperatures were compared with the actual performance as found in COTAC DS composite testing. The structure and properties of the more fully developed 74 and 741 types were specified. High temperature structural stability, impact of thermal and mechanical fatigue, oxidation resistance and coating capability were thoroughly evaluated. The problem of cooling passages in DS eutectic blades is also outlined.

Paternal HLA-C and Maternal Killer-Cell Immunoglobulin-Like Receptor Genotypes in the Development of Autism.

PubMed

Gamliel, Moriya; Anderson, Karen L; Ebstein, Richard P; Yirmiya, Nurit; Mankuta, David

2016-01-01

Killer-cell immunoglobulin-like receptors (KIRs) are a family of cell surface proteins found on natural killer cells, which are components of the innate immune system. KIRs recognize MHC class I proteins, mainly HLA-C and are further divided into two groups: short-tailed 2/3DS activating receptors and long-tailed 2/3DL inhibitory receptors. Based on the Barker Hypothesis, the origins of illness can be traced back to embryonic development in the uterus, and since KIR:HLA interaction figures prominently in the maternal-fetal interface, we investigated whether specific KIR:HLA combinations may be found in autism spectrum disorders (ASD) children compared with their healthy parents. This study enrolled 49 ASD children from different Israeli families, and their healthy parents. Among the parents, a higher frequency of HLA-C2 allotypes was found in the fathers, while its corresponding ligand 2DS1 was found in higher percentage in the maternal group. However, such skewing in KIR:HLA frequencies did not appear in the ASD children. Additionally, analysis of "overall activation" indicated higher activation in maternal than in paternal cohorts.

The Epidemiology of Observed Temperament: Factor Structure and Demographic Group Differences

PubMed Central

Willoughby, Michael T.; Stifter, Cynthia A.; Gottfredson, Nisha C.

2015-01-01

This study investigated the factor structure of observational indicators of children’s temperament that were collected across the first three years of life in the Family Life Project (N = 1205) sample. A four-factor model (activity level, fear, anger, regulation), which corresponded broadly to Rothbart’s distinction between reactivity and regulation, provided an acceptable fit the observed data. Tests of measurement invariance demonstrated that a majority of the observational indicators exhibited comparable measurement properties for male vs. female, black vs. white, and poor vs. not-poor children, which improved the generalizability of these results. Unadjusted demographic group comparisons revealed small to moderate sized differences (Cohen ds = |.23 – .42|) in temperamental reactivity and moderate to large sized differences (Cohen ds = −.64 – −.97) in regulation. Collectively, demographic variables explained more of the variation in regulation (R2 = .25) than in reactivity (R2 = .02 – .06). Follow-up analyses demonstrated that race differences were substantially diminished in magnitude and better accounted for by poverty. These results help to validate the distinction between temperamental reactivity and regulation using observational indicators. PMID:25733489

NK Cells with KIR2DS2 Immunogenotype Have a Functional Activation Advantage To Efficiently Kill Glioblastoma and Prolong Animal Survival

PubMed Central

Gras Navarro, Andrea; Kmiecik, Justyna; Leiss, Lina; Zelkowski, Mateusz; Engelsen, Agnete; Bruserud, Øystein; Zimmer, Jacques; Enger, Per Øyvind

2014-01-01

Glioblastomas (GBMs) are lethal brain cancers that are resistant to current therapies. We investigated the cytotoxicity of human allogeneic NK cells against patient-derived GBM in vitro and in vivo, as well as mechanisms mediating their efficacy. We demonstrate that KIR2DS2 immunogenotype NK cells were more potent killers, notwithstanding the absence of inhibitory killer Ig–like receptor (KIR)-HLA ligand mismatch. FACS-sorted and enriched KIR2DS2+ NK cell subpopulations retained significantly high levels of CD69 and CD16 when in contact with GBM cells at a 1:1 ratio and highly expressed CD107a and secreted more soluble CD137 and granzyme A. In contrast, KIR2DS2− immunogenotype donor NK cells were less cytotoxic against GBM and K562, and, similar to FACS-sorted or gated KIR2DS2− NK cells, significantly diminished CD16, CD107a, granzyme A, and CD69 when in contact with GBM cells. Furthermore, NK cell–mediated GBM killing in vitro depended upon the expression of ligands for the activating receptor NKG2D and was partially abrogated by Ab blockade. Treatment of GBM xenografts in NOD/SCID mice with NK cells from a KIR2DS2+ donor lacking inhibitory KIR-HLA ligand mismatch significantly prolonged the median survival to 163 d compared with vehicle controls (log-rank test, p = 0.0001), in contrast to 117.5 d (log-rank test, p = 0.0005) for NK cells with several inhibitory KIR-HLA ligand mismatches but lacking KIR2DS2 genotype. Significantly more CD56+CD16+ NK cells from a KIR2DS2+ donor survived in nontumor-bearing brains 3 wk after infusion compared with KIR2DS2− NK cells, independent of their proliferative capacity. In conclusion, KIR2DS2 identifies potent alloreactive NK cells against GBM that are mediated by commensurate, but dominant, activating signals. PMID:25381437

Antioxidants and biomarkers of oxidative damage in the saliva of patients with Down's syndrome.

PubMed

de Sousa, Michelle Cardoso; Vieira, Rafael Brizola; Dos Santos, Danielle Sá; Carvalho, Claudio Antonio Talge; Camargo, Samira Esteves Afonso; Mancini, Maria Nadir Gasparoto; de Oliveira, Luciane Dias

2015-04-01

The aim of this study was to investigate enzymatic and non-enzymatic antioxidant systems and levels of biomarker levels of oxidative damage in the saliva of patients with Down's syndrome (DS). Saliva samples were collected from 30 patients with DS and control group (age: 14-24 years). Subsequently, the concentrations of superoxide dismutase, concentration of malondialdehyde, carbonylated proteins, uric acid, vitamin C and total protein, peroxidase activity and total antioxidant capacity were analyzed. Patients with DS presented significantly higher concentrations of superoxide dismutase, higher levels of malondialdehyde and salivary total protein content than controls (p<0.05). Conversely, no difference in carbonylated proteins or antioxidants (uric acid, vitamin C, peroxidase, and total antioxidant capacity) was observed between DS patients and controls (p>0.05). Patients with DS are more vulnerable to oxidative stress in saliva as indicated by the significant increase in malondialdehyde and superoxide dismutase concentrations found in this study. Copyright © 2014 Elsevier Ltd. All rights reserved.

The best management of SuDS treatment trains: a holistic approach.

PubMed

Bastien, Nicolas; Arthur, Scott; Wallis, Stephen; Scholz, Miklas

2010-01-01

The use of Sustainable Drainage Systems (SuDS) or Best Management Practice (BMP) is becoming increasingly common. However, rather than adopting the preferred "treatment train" implementation, many developments opt for end of pipe control ponds. This paper discusses the use of SuDS in series to form treatment trains and compares their potential performance and effectiveness with end of pipe solutions. Land-use, site and catchment characteristics have been used alongside up-to-date guidance, Infoworks CS and MUSIC to determine whole-life-costs, land-take, water quality and water quantity for different SuDS combinations. The results presented show that the use of a treatment train allows approaches differing from the traditional use of single SuDS, either source or "end of pipe", to be proposed to treat and attenuate runoff. The outcome is a more flexible solution where the footprint allocated to SuDS, costs and water quality can be managed differently to satisfy more efficiently the holistically stakeholders' objectives.

ISSLS PRIZE IN BIOENGINEERING SCIENCE 2018: dynamic imaging of degenerative spondylolisthesis reveals mid-range dynamic lumbar instability not evident on static clinical radiographs.

PubMed

Dombrowski, Malcolm E; Rynearson, Bryan; LeVasseur, Clarissa; Adgate, Zach; Donaldson, William F; Lee, Joon Y; Aiyangar, Ameet; Anderst, William J

2018-04-01

Degenerative spondylolisthesis (DS) in the setting of symptomatic lumbar spinal stenosis is commonly treated with spinal fusion in addition to decompression with laminectomy. However, recent studies have shown similar clinical outcomes after decompression alone, suggesting that a subset of DS patients may not require spinal fusion. Identification of dynamic instability could prove useful for predicting which patients are at higher risk of post-laminectomy destabilization necessitating fusion. The goal of this study was to determine if static clinical radiographs adequately characterize dynamic instability in patients with lumbar degenerative spondylolisthesis (DS) and to compare the rotational and translational kinematics in vivo during continuous dynamic flexion activity in DS versus asymptomatic age-matched controls. Seven patients with symptomatic single level lumbar DS (6 M, 1 F; 66 ± 5.0 years) and seven age-matched asymptomatic controls (5 M, 2 F age 63.9 ± 6.4 years) underwent biplane radiographic imaging during continuous torso flexion. A volumetric model-based tracking system was used to track each vertebra in the radiographic images using subject-specific 3D bone models from high-resolution computed tomography (CT). In vivo continuous dynamic sagittal rotation (flexion/extension) and AP translation (slip) were calculated and compared to clinical measures of intervertebral flexion/extension and AP translation obtained from standard lateral flexion/extension radiographs. Static clinical radiographs underestimate the degree of AP translation seen on dynamic in vivo imaging (1.0 vs 3.1 mm; p = 0.03). DS patients demonstrated three primary motion patterns compared to a single kinematic pattern in asymptomatic controls when analyzing continuous dynamic in vivo imaging. 3/7 (42%) of patients with DS demonstrated aberrant mid-range motion. Continuous in vivo dynamic imaging in DS reveals a spectrum of aberrant motion with significantly greater kinematic heterogeneity than previously realized that is not readily seen on current clinical imaging. Level V data These slides can be retrieved under Electronic Supplementary Material.

Within-Subject Reversibility of Discriminative Function in the Composite-Stimulus Control of Behavior

ERIC Educational Resources Information Center

Weiss, Stanley J.; Kearns, David N.; Antoshina, Maria

2009-01-01

According to the composite-stimulus control model (Weiss, 1969, 1972b), an individual discriminative stimulus (S[superscript D]) is composed of that S[superscript D]'s on-state plus the off-states of all other relevant S[superscript D]s. The present experiment investigated the reversibility of composite-stimulus control. Separate groups of rats…

Blind Predictions of DNA and RNA Tweezers Experiments with Force and Torque

PubMed Central

Chou, Fang-Chieh; Lipfert, Jan; Das, Rhiju

2014-01-01

Single-molecule tweezers measurements of double-stranded nucleic acids (dsDNA and dsRNA) provide unprecedented opportunities to dissect how these fundamental molecules respond to forces and torques analogous to those applied by topoisomerases, viral capsids, and other biological partners. However, tweezers data are still most commonly interpreted post facto in the framework of simple analytical models. Testing falsifiable predictions of state-of-the-art nucleic acid models would be more illuminating but has not been performed. Here we describe a blind challenge in which numerical predictions of nucleic acid mechanical properties were compared to experimental data obtained recently for dsRNA under applied force and torque. The predictions were enabled by the HelixMC package, first presented in this paper. HelixMC advances crystallography-derived base-pair level models (BPLMs) to simulate kilobase-length dsDNAs and dsRNAs under external forces and torques, including their global linking numbers. These calculations recovered the experimental bending persistence length of dsRNA within the error of the simulations and accurately predicted that dsRNA's “spring-like” conformation would give a two-fold decrease of stretch modulus relative to dsDNA. Further blind predictions of helix torsional properties, however, exposed inaccuracies in current BPLM theory, including three-fold discrepancies in torsional persistence length at the high force limit and the incorrect sign of dsRNA link-extension (twist-stretch) coupling. Beyond these experiments, HelixMC predicted that ‘nucleosome-excluding’ poly(A)/poly(T) is at least two-fold stiffer than random-sequence dsDNA in bending, stretching, and torsional behaviors; Z-DNA to be at least three-fold stiffer than random-sequence dsDNA, with a near-zero link-extension coupling; and non-negligible effects from base pair step correlations. We propose that experimentally testing these predictions should be powerful next steps for understanding the flexibility of dsDNA and dsRNA in sequence contexts and under mechanical stresses relevant to their biology. PMID:25102226

Relationships between depressive symptoms and self-reported unintentional injuries: the cross-sectional population–based FIN-D2D survey

PubMed Central

2012-01-01

Background There is a lack of knowledge on the influence of different levels of physical activity (PA) on unintentional injuries among those with depressive symptoms (DS). The aim of this study was to evaluate the relationship between PA categories and unintentional injuries among participants with and without DS based on a cross-sectional population–based FIN-D2D survey conducted in 2007. Methods Out of 4500, 2682 participants (60%) aged 45–74 years attended in this study. The unintentional injuries over the past year were captured in a questionnaire. DS were determined with the Beck Depression Inventory (≥ 10 points) and PA with the International Physical Activity Questionnaire. The statistical significance between DS and unintentional injury categories was evaluated by using t-test, chi-square test, or permutation test, analysis of covariance, or regression models. The factors related to unintentional injuries were estimated by univariate and multivariate logistic regression models. Results The proportion of subjects with unintentional injuries was higher among those with DS (17%) compared to those without DS (10%) (age- and gender-adjusted p = 0.023). The median (range) number of activity-loss days after injury was 22 (0–365) in participants with DS and 7 (0–120) in participants without DS ( p = 0.009). The percentage of subjects with unintentional injuries was not significantly different between PA categories in participants with DS and without DS. A stepwise multivariate logistic regression analysis showed that DS, functional ability, and musculoskeletal diseases were related to unintentional injuries. Conclusions PA level was not related to unintentional injuries, whereas those with DS had a higher prevalence of unintentional injuries and prolonged activity-loss after injury. These results underline the importance of injury prevention, especially among those who have DS and additional risk factors. PMID:22781103

Atrial fibrillation, CHA2DS2-VASc score, antithrombotics and risk of non-traffic-, non-cancer-related bone fractures: A population-based cohort study.

PubMed

Lai, Hui-Chin; Chien, Wu-Chien; Chung, Chi-Hsiang; Lee, Wen-Lieng; Wu, Tsu-Juey; Wang, Kuo-Yang; Liu, Chia-Ning; Liu, Tsun-Jui

2015-12-01

Accidental bone fractures are a major cause of premature disabilities and death. Whether atrial fibrillation (AF) treated with or without antithrombotics correlates with occurrence of such events remains under-investigated. Patients ≥18 years with newly diagnosed AF between 2005 and 2009 without previous cancers or traffic injury were identified from the "Longitudinal Health Insurance Database 2005" (1 million beneficiaries) of Taiwan's National Health Research Institutes and served as the AF group. A fourfold number of age-, gender-, and comorbidity-matched patients but without AF served as the non-AF controls. Patients were followed, and cumulative incidence of hospitalization-requiring bone fractures was compared between groups. Predictors of accidental bone fractures were determined by Cox regression analysis. Within a mean follow-up of 3.6 years, bone fractures, especially those involving neck/trunk and lower limbs, were significantly more frequent in patients with AF (N=6925) than in those without (N=27,700) (7.0 vs. 3.8 per 1000 person-years, log-rank p=0.001, adjusted HR=1.85, 95% CI=1.50-2.30, p<0.001). Cox models identified female gender, previous stroke, and CHA2DS2-VASc score≧1 as risk factors for bone fractures in AF patients, whereas oral anticoagulants (HR=0.62, 95% CI=0.35-0.91, p=0.034), especially when used in patients with CHA2DS2-VASc score≧1 but not antiplatelet therapy (p=0.39) as negative predictors. Patients with AF are more vulnerable to non-traffic-, non-cancer-related bone fractures especially when with specified characteristics. For those with higher CHA2DS2-VASc scores, the use of anticoagulant but not antiplatelet agents could be associated with lower risk of such events. Copyright © 2015 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.

Immunomodulatory drugs and the risk of serious infection in multiple myeloma: systematic review and meta-analysis of randomized and observational studies.

PubMed

Chen, Min; Zhao, Yongfeng; Xu, Chuanxin; Wang, Xian; Zhang, Xianping; Mao, Benyu

2018-06-01

The effect of immunomodulatory drugs (IMiDs) on serious infection remains uncertain. We therefore conducted a systematic review and meta-analysis to assess the possible impact of IMiDs on serious infection in patients with multiple myeloma (MM). We searched randomized controlled trials (RCTs) and observational studies from databases that addressed the effect of IMiDs on serious infection in patients with MM. We pooled data from RCTs and observational studies separately and used the GRADE approach to rate the quality of evidence. Rates in patients with individual IMiDs at different treatment status ranged from 7.00 to 23.00%. The use of thalidomide- or lenalidomide-based regimen induction therapy for autologous stem cell transplantation (ASCT)-ineligible patients suggests increase in serious infection (RR = 1.59, 95% CI 1.31-1.93, p < 0.01). Compared to conventional therapy, IMiDs' induction in ASCT-eligible patients significantly decreases the risk of serious infection (RR = 0.82, 95% CI 0.72-0.94, p < 0.01). Lenalidomide-based therapy was associated with a significant increase in risk of serious infection in patients treated compared with conventional therapy (RR = 2.45, 95% CI 1.57-3.83, p < 0.01). The current evidence suggests that patients with MM treated with IMiDs are at a high risk of serious infection.

Precision medicine approaches may be the future for CRLF2 rearranged Down Syndrome Acute Lymphoblastic Leukaemia patients.

PubMed

Page, Elyse C; Heatley, Susan L; Yeung, David T; Thomas, Paul Q; White, Deborah L

2018-06-04

Breakthrough studies over the past decade have uncovered unique gene fusions implicated in acute lymphoblastic leukaemia (ALL). The critical gene, cytokine receptor-like factor 2 (CRLF2), is rearranged in 5-16% of B-ALL, comprising 50% of Philadelphia-like ALL and cooperates with genomic lesions in the Jak, Mapk and Ras signalling pathways. Children with Down Syndrome (DS) have a predisposition to developing CRLF2 rearranged-ALL which is observed in 60% of DS-ALL patients. These patients experience a poor survival outcome. Mutations of genes involved in epigenetic regulation are more prevalent in DS-ALL patients than non-DS ALL patients, highlighting the potential for alternative treatment strategies. DS-ALL patients also suffer greater treatment-related toxicity from current ALL treatment regimens compared to non-DS-ALL patients. An increased gene dosage of critical genes on chromosome 21 which have roles in purine synthesis and folate transport may contribute. As the genomic landscape of DS-ALL patients is different to non-DS-ALL patients, targeted therapies for individual lesions may improve outcomes. Therapeutically targeting each rearrangement with targeted or combination therapy that will perturb the transforming signalling pathways will likely improve the poor survival rates of this subset of patients. Copyright © 2018 Elsevier B.V. All rights reserved.

Shorter telomeres may indicate dementia status in older individuals with Down Syndrome

PubMed Central

Jenkins, Edmund C.; Ye, Lingling; Gu, Hong; Ni, Samantha A.; Velinov, Milen; Pang, Deborah; Krinsky-McHale, Sharon J.; Zigman, Warren B.; Schupf, Nicole; Silverman, Wayne P.

2009-01-01

We have recently reported reduced telomere length in T lymphocytes of individuals with Down syndrome (DS) and dementia due to Alzheimer’s disease (AD). We have now replicated and extended that study by finding that people with DS and mild cognitive impairment (MCI-DS) also have shorter telomeres than people with DS without MCI-DS. Additional new findings demonstrated that light intensity measurements from chromosome 21 alone, or in concert with chromosomes 1, 2, and 16, exhibited shorter telomeres in adults with DS and with either dementia or MCI-DS compared to aging per se. Chromosome 21 measurements appeared to be especially promising for use as a biomarker because there was no overlap in the distribution of light intensity measurement scores between demented or MCI-DS and non-demented participants. Given that early clinical symptoms of AD can be very difficult to recognize in this population of adults due to their pre-existing cognitive impairments, a valid biomarker would be of great value. Early detection is especially important because it would allow treatments to begin before significant damage to the central nervous system has occurred. Our findings suggest that it may be feasible to use telomere shortening as a biomarker for accurately inferring dementia status. PMID:18635289

Influence of Microcirculatory Dysfunction on Angiography-Based Functional Assessment of Coronary Stenoses.

PubMed

Mejía-Rentería, Hernán; Lee, Joo Myung; Lauri, Francesco; van der Hoeven, Nina W; de Waard, Guus A; Macaya, Fernando; Pérez-Vizcayno, María José; Gonzalo, Nieves; Jiménez-Quevedo, Pilar; Nombela-Franco, Luis; Salinas, Pablo; Núñez-Gil, Iván; Del Trigo, María; Goto, Sonoka; Lee, Hyun Jong; Liontou, Catherine; Fernández-Ortiz, Antonio; Macaya, Carlos; van Royen, Niels; Koo, Bon-Kwon; Escaned, Javier

2018-04-23

The authors sought to evaluate the influence of coronary microcirculatory dysfunction (CMD) on the diagnostic performance of the quantitative flow ratio (QFR). Functional angiographic assessment of coronary stenoses based on fluid dynamics, such as QFR, constitutes an attractive alternative to fractional flow reserve (FFR). However, it is unknown whether CMD affects the reliability of angiography-based functional indices. FFR and the index of microcirculatory resistance (IMR) were measured in 300 vessels (248 patients) as part of a multicenter international registry. QFR was calculated at a blinded core laboratory. Vessels were classified into 2 groups according to microcirculatory status: low IMR (<23 U), and high IMR (≥23 U, CMD). The impact of CMD on the diagnostic performance of QFR, as well as on incremental value of QFR over quantitative angiography, was assessed using FFR as reference. Percent diameter stenosis (%DS) and FFR were similar in low- and high-IMR groups (%DS 51 ± 12% vs. 53 ± 11%; p = 0.16; FFR 0.80 ± 0.11 vs. 0.81 ± 0.11; p = 0.23, respectively). In the overall cohort, classification agreement (CA) between QFR and FFR and diagnostic efficiency of QFR (area under the receiver-operating characteristics curve [AUC]) were high (CA: 88%; AUC: 0.93 [95% confidence interval (CI): 0.90 to 0.96]). However, when assessed according to microcirculatory status, a significantly lower CA and AUC of QFR were found in the high-IMR group as compared with the low-IMR group (CA: 76% vs. 92%; p < 0.001; AUC: 0.88 [95% CI: 0.79 to 0.94] vs. 0.96 [95% CI: 0.92 to 0.98]; p < 0.05). Compared with angiographic assessment, QFR increased by 0.20 (p < 0.001) and by 0.16 (p < 0.001) the AUC of %DS in low- and high-IMR groups, respectively. Independent predictors of misclassification between QFR and FFR were high IMR and acute coronary syndrome. CMD decreases the diagnostic performance of QFR. However, even in the presence of CMD, QFR remains superior to angiography alone in ascertaining functional stenosis severity. Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

Size-segregated sugar composition of transported dust aerosols from Middle-East over Delhi during March 2012

NASA Astrophysics Data System (ADS)

Kumar, S.; Aggarwal, S. G.; Fu, P. Q.; Kang, M.; Sarangi, B.; Sinha, D.; Kotnala, R. K.

2017-06-01

During March 20-22, 2012 Delhi experienced a massive dust-storm which originated in Middle-East. Size segregated sampling of these dust aerosols was performed using a nine staged Andersen sampler (5 sets of samples were collected including before dust-storm (BDS)), dust-storm day 1 to 3 (DS1 to DS3) and after dust storm (ADS). Sugars (mono and disaccharides, sugar-alcohols and anhydro-sugars) were determined using GC-MS technique. It was observed that on the onset of dust-storm, total suspended particulate matter (TSPM, sum of all stages) concentration in DS1 sample increased by > 2.5 folds compared to that of BDS samples. Interestingly, fine particulate matter (sum of stages with cutoff size < 2.1 μm) loading in DS1 also increased by > 2.5 folds as compared to that of BDS samples. Sugars analyzed in DS1 coarse mode (sum of stages with cutoff size > 2.1 μm) samples showed a considerable increase ( 1.7-2.8 folds) compared to that of other samples. It was further observed that mono-saccharides, disaccharides and sugar-alcohols concentrations were enhanced in giant (> 9.0 μm) particles in DS1 samples as compared to other samples. On the other hand, anhydro-sugars comprised 13-27% of sugars in coarse mode particles and were mostly found in fine mode constituting 66-85% of sugars in all the sample types. Trehalose showed an enhanced ( 2-4 folds) concentration in DS1 aerosol samples in both coarse (62.80 ng/m3) and fine (8.57 ng/m3) mode. This increase in Trehalose content in both coarse and fine mode suggests their origin to the transported desert dust and supports their candidature as an organic tracer for desert dust entrainments. Further, levoglucosan to mannosan (L/M) ratios which have been used to predict the type of biomass burning influences on aerosols are found to be size dependent in these samples. These ratios are higher for fine mode particles, hence should be used with caution while interpreting the sources using this tool.

Mapping of tecto-lineaments and their influence on sedimentological processes in a GIS environment: a case study of the Iberian trough, Spain

NASA Astrophysics Data System (ADS)

Herrero-Hernández, Antonio; López-Moro, Francisco Javier; Valle-Feijóo, María Elena; Gómez-Fernández, Fernando; Rodríguez-Pérez, José Ramón

2017-04-01

The subsurface sedimentary succession of the Iberian Trough, Spain was examined using geophysical techniques (analogue seismic profiles) and inverse distance weighted (IDW) interpolation algorithm implemented in a gvGIS open source software. The results showed that the Late Cretaceous succession is divided into two depositional sequences: DS-1 (Late Albian-Middle Turonian) and DS-2 (Late Turonian-Campanian). From the analogical seismic sections, digital data and quantitative isopach maps for DS-1 and DS-2 were obtained. The new isopach maps obtained for the DS-1 sequence showed that the deeper sectors of the basin were located to the northeast and the proximal ones to the southwest. The palaeoshoreline was inferred to be situated in the N 150 direction. Across and parallel to this direction several blocks were delimited by faults, with a direction between 30 N and N 65. The thickness of the sediments in these blocks varied in direction NW-SE, with subsidence and depocentres in hangingwall and uplift in the footwall. These variations may have been related to active synsedimentary faults (e.g., Boñar and Yugueros Faults). In the DS-2 sequence, a lineament separated the smaller thicknesses to the southwest from the larger thicknesses (up to 1400 m) to the northeast. This lineament had an N170 orientation and it indicated the position of the palaeoshoreline. In the isopach map for DS-2 there were two groups of lineaments. The first showed a block structure that was limited by N100-120, they were foundering toward the S and had large thicknesses (depocentres), and rose towards the N, where there were smaller thicknesses. The second group of lineaments had a N 50-65 direction and, in this case, they had a similar interpretation as the one in DS-1. The maps obtained are of great help for geologists and permit better understanding of the geological setting and stratigraphic succession of the Late Cretaceous of the Iberian Trough.

The CHA2DS2-VASc Score A Predictor of Thromboembolic Events and Mortality In Patients With an Implantable Monitoring Device Without Atrial Fibrillation

PubMed Central

Parsons, Christine; Patel, Salma I.; Cha, Stephen; Shen, Win-Kuang; Desai, Santosh; Chamberlain, Alanna M.; Luis, Sushil Allen; Aguilar, Maria I.; Demaerschalk, Bart M.; Mookadam, Farouk; Shamoun, Fadi

2017-01-01

Objective To determine if the CHA2DS2-VASc score predicts thromboembolism and death in patients without atrial fibrillation in a population with implantable cardiac monitoring devices. Methods A retrospective review utilizing the Rochester Epidemiology Project research infrastructure was conducted to evaluate the CHA2DS2-VASc tool as a predictor of mortality and ischemic stroke, transient ischemic attack, or systemic embolism in patients without atrial fibrillation. An implantable device was required in the inclusion criteria to discern the absence of atrial fibrillation. The study period was January 1, 2004 through March 7, 2016. Results The population (n = 1,606) had a mean age of 69.8 years (SD 3.4 years) and median follow-up of 4.8 years (range 0 to 12 years, Q1: 2.6 years, Q3: 8.1 years). The number of thromboembolic and mortality events stratified by CHA2DS2-VASc score groupings of 0 to 2, 3 to 5, and 6 to 9 were 12 (3%), 109 (14%), and 123 (27%); and 22 (6%), 205 (27%), and 214 (47%), respectively. The CHA2DS2-VASc score predicted thromboembolism and death. The hazard ratios for thromboembolic events for CHA2DS2-VASc scores 3 to 5 and 6 to 9 were 4.84 (CI 2.66 to 8.80) and 10.53 (CI 5.77 to 19.21) (reference group: scores 0 to 2). The hazard ratios for death for the corresponding score categories were 4.45 (CI 2.86 to 6.91) and 8.18 (CI 5.23 to 12.78). The CHA2DS2-VASc score also predicted development of atrial fibrillation, where the hazard ratios for scores 3 to 5 and 6 to 9 were 1.51 (CI 1.13 to 2.00) and 2.17 (CI 1.60 to 2.95). Conclusion The CHA2DS2-VASc tool predicts thromboembolic events and overall mortality in those without atrial fibrillation in a population with implantable devices. PMID:28259228

Out-of-pocket medical costs and third-party healthcare costs for children with Down syndrome.

PubMed

Kageleiry, Andrew; Samuelson, David; Duh, Mei Sheng; Lefebvre, Patrick; Campbell, John; Skotko, Brian G

2017-03-01

Prior analyses have estimated the lifetime total societal costs of a person with Down syndrome (DS); however, no studies capture the expected medical costs that patients with DS can expect to incur during childhood. The study utilized the OptumHealth Reporting and Insights administrative claims database from 1999 to 2013. Children with a diagnosis of DS were identified, and their time was divided into clinically relevant age categories. Patients with DS in each age category were matched to controls without chromosomal conditions. Out-of-pocket medical costs and third-party expenditures were compared between the patient-age cohorts with DS and matched controls. Patients with DS had significantly higher mean annual out-of-pocket costs than their matched controls within each age and cost category. Total annual incremental out-of-pocket costs associated with DS were highest among individuals from birth to age 1 ($1,907, P < 0.001). The main drivers of the incremental out-of-pocket costs associated with DS were inpatient costs in the 1st year of life ($925, P < 0.001) and outpatient costs in later years (ranging $183-$623, all P < 0.001). Overall, patients with DS incurred incremental out-of-pocket medical costs of $18,248 between birth and age 18 years; third-party payers incurred incremental costs of $230,043 during the same period. Across all age categories, mean total out-of-pocket annual costs were greater for individuals with DS than those of matched controls. On average, parents of children with DS pay an additional $84 per month for out-of-pocket medical expenses when costs are amortized over 18 years. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Correlating structure and function during the evolution of fibrinogen-related domains

PubMed Central

Doolittle, Russell F; McNamara, Kyle; Lin, Kevin

2012-01-01

Fibrinogen-related domains (FReDs) are found in a variety of animal proteins with widely different functions, ranging from non-self recognition to clot formation. All appear to have a common surface where binding of one sort or other occurs. An examination of 19 completed animal genomes—including a sponge and sea anemone, six protostomes, and 11 deuterostomes—has allowed phylogenies to be constructed that show where various types of FReP (proteins containing FReDs) first made their appearance. Comparisons of sequences and structures also reveal particular features that correlate with function, including the influence of neighbor-domains. A particular set of insertions in the carboxyl-terminal subdomain was involved in the transition from structures known to bind sugars to those known to bind amino-terminal peptides. Perhaps not unexpectedly, FReDs with different functions have changed at different rates, with ficolins by far the fastest changing group. Significantly, the greatest amount of change in ficolin FReDs occurs in the third subdomain (“P domain”), the very opposite of the situation in most other vertebrate FReDs. The unbalanced style of change was also observed in FReDs from non-chordates, many of which have been implicated in innate immunity. PMID:23076991

Motor speech skills in children with Down syndrome: A descriptive study.

PubMed

Rupela, Vani; Velleman, Shelley L; Andrianopoulos, Mary V

2016-10-01

Motor speech characteristics of children with Down syndrome (DS) have historically been viewed as either Childhood Dysarthria (CD) or, more infrequently, as Childhood Apraxia of Speech (CAS). The objective of this study was to investigate motor speech deficits in a systematic manner, considering characteristics from both CAS and CD. Motor speech assessments were carried out on seven 3;4-8;11-year old children with DS in comparison with younger, typically-developing children using a Language-Neutral Assessment of Motor Speech for young children (LAMS). Additionally, the motor speech and non-speech oral motor skills of all participants were analysed qualitatively using an investigator checklist of characteristics of CAS, CD and Motor Speech Disorder-Not Otherwise Specified (MSD-NOS). Results indicated that the children with DS exhibited symptoms of CAS, CD and MSD-NOS, with variability within the group and overlapping symptoms of the disorder types. This finding is different from previous assumptions that children with DS have either CD or CAS. The motor speech disorder accompanying DS is complex. The data provide some preliminary descriptions of motor speech disorders in this population and some tools that clinicians would find useful when assessing motor speech skills of young children with DS.

Bilingualism and Biliteracy in Down Syndrome: Insights From a Case Study.

PubMed

Burgoyne, Kelly; Duff, Fiona J; Nielsen, Dea; Ulicheva, Anastasia; Snowling, Margaret J

2016-12-01

We present the case study of MB-a bilingual child with Down syndrome (DS) who speaks Russian (first language [L1]) and English (second language [L2]) and has learned to read in two different alphabets with different symbol systems. We demonstrate that, in terms of oral language, MB is as proficient in Russian as English, with a mild advantage for reading in English, her language of formal instruction. MB's L1 abilities were compared with those of 11 Russian-speaking typically developing monolinguals and her L2 abilities to those of 15 English-speaking typically developing monolinguals and six monolingual English-speaking children with DS; each group achieving the same level of word reading ability as MB. We conclude that learning two languages in the presence of a learning difficulty need have no detrimental effect on either a child's language or literacy development.

Bilingualism and Biliteracy in Down Syndrome: Insights From a Case Study

PubMed Central

Burgoyne, Kelly; Duff, Fiona J.; Nielsen, Dea; Ulicheva, Anastasia

2016-01-01

We present the case study of MB—a bilingual child with Down syndrome (DS) who speaks Russian (first language [L1]) and English (second language [L2]) and has learned to read in two different alphabets with different symbol systems. We demonstrate that, in terms of oral language, MB is as proficient in Russian as English, with a mild advantage for reading in English, her language of formal instruction. MB's L1 abilities were compared with those of 11 Russian‐speaking typically developing monolinguals and her L2 abilities to those of 15 English‐speaking typically developing monolinguals and six monolingual English‐speaking children with DS; each group achieving the same level of word reading ability as MB. We conclude that learning two languages in the presence of a learning difficulty need have no detrimental effect on either a child's language or literacy development. PMID:27917003

A comparative analysis of the effectiveness of cytogenetic and molecular genetic methods in the detection of Down syndrome.

PubMed

Mačkić-Đurović, Mirela; Projić, Petar; Ibrulj, Slavka; Cakar, Jasmina; Marjanović, Damir

2014-05-01

The goal of this study was to examine the effectiveness of 6 STR markers application (D21S1435, D21S11, D21S1270, D21S1411, D21S226 and IFNAR) in molecular genetic diagnostics of Down syndrome (DS) and to compare it with cytogenetic method. Testing was performed on 73 children, with the previously cytogenetically confirmed Down syndrome. DNA isolated from the buccal swab was used. Previously mentioned loci located on chromosome 21 were simultaneously amplified using quantitative fluorescence PCR (QF PCR). Using this method, 60 previously cytogenetically diagnosed DS with standard type of trisomy 21 were confirmed. Furthermore, six of eight children with mosaic type of DS were detected. Two false negative results for mosaic type of DS were obtained. Finally, five children with the translocation type of Down syndrome were also confirmed with this molecular test. In conclusion, molecular genetic analysis of STR loci is fast, cheap and simple method that could be used in detection of DS. Regarding possible false results detected for certain number of mosaic types, cytogenetic analysis should be used as a confirmatory test.

Association of the CHA2DS2-VASc score with left atrial spontaneous echo contrast: a cross-sectional study of patients with rheumatic mitral stenosis in sinus rhythm.

PubMed

Belen, Erdal; Ozal, Ender; Pusuroglu, Hamdi

2016-09-01

Mitral valve stenosis is a common manifestation of chronic rheumatic heart disease. In rheumatic mitral valve stenosis (RMVS) patients, left atrial spontaneous echo contrast (LASEC) is an independent predictor of thromboembolism risk. While the anticoagulant therapy algorithm for atrial fibrillation patients is clear, the clinical tools determining high-risk patients in sinus rhythm are insufficient. Our aim is to examine the relationship between CHA2DS2-VASc score in RMVS patients in sinus rhythm and the presence of LASEC. The patients with RMVS upon presentation to the cardiology polyclinic were included in this cross-sectional study consecutively, and CHA2DS2-VASc scores were calculated. All patients were evaluated with transthoracic and transesophageal echocardiography and were divided into two groups as those with and without LASEC. The total number of patients was 265, with LASEC determined in 97 (36.6 %) and not determined in 168 (63.4 %). No significant differences in terms of age, gender, and body mass index were found between the groups. Patients with LASEC had higher mean CHA2DS2-VASc score than patients without LASEC (2.10 ± 1.21 vs. 1.11 ± 0.7, respectively; p < 0.001). In the multivariate logistic regression analysis, it has been determined that there is an independent association between the existence of LASEC and CHA2DS2-VASc score (OR 3.176, CI 1.937-5.206; p < 0.001). The ROC analysis revealed that CHA2DS2-VASc score 2 or more predicted presence of LASEC with a sensitivity of 71 % and a specificity of 82 % (AUC 0.746, 95 % CI 0.682-0.810). The CHA2DS2-VASc score could be useful marker to detect prothrombotic state in patients with RMVS in sinus rhythm.

Frontal dysconnectivity in 22q11.2 deletion syndrome: an atlas-based functional connectivity analysis.

PubMed

Mattiaccio, Leah M; Coman, Ioana L; Thompson, Carlie A; Fremont, Wanda P; Antshel, Kevin M; Kates, Wendy R

2018-01-20

22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental syndrome associated with deficits in cognitive and emotional processing. This syndrome represents one of the highest risk factors for the development of schizophrenia. Previous studies of functional connectivity (FC) in 22q11DS report aberrant connectivity patterns in large-scale networks that are associated with the development of psychotic symptoms. In this study, we performed a functional connectivity analysis using the CONN toolbox to test for differential connectivity patterns between 54 individuals with 22q11DS and 30 healthy controls, between the ages of 17-25 years old. We mapped resting-state fMRI data onto 68 atlas-based regions of interest (ROIs) generated by the Desikan-Killany atlas in FreeSurfer, resulting in 2278 ROI-to-ROI connections for which we determined total linear temporal associations between each. Within the group with 22q11DS only, we further tested the association between prodromal symptoms of psychosis and FC. We observed that relative to controls, individuals with 22q11DS displayed increased FC in lobar networks involving the frontal-frontal, frontal-parietal, and frontal-occipital ROIs. In contrast, FC between ROIs in the parietal-temporal and occipital lobes was reduced in the 22q11DS group relative to healthy controls. Moreover, positive psychotic symptoms were positively associated with increased functional connections between the left precuneus and right superior frontal gyrus, as well as reduced functional connectivity between the bilateral pericalcarine. Positive symptoms were negatively associated with increased functional connectivity between the right pericalcarine and right postcentral gyrus. Our results suggest that functional organization may be altered in 22q11DS, leading to disruption in connectivity between frontal and other lobar substructures, and potentially increasing risk for prodromal psychosis.

Origins and evolution of viruses of eukaryotes: The ultimate modularity

PubMed Central

Koonin, Eugene V.; Dolja, Valerian V.; Krupovic, Mart

2018-01-01

Viruses and other selfish genetic elements are dominant entities in the biosphere, with respect to both physical abundance and genetic diversity. Various selfish elements parasitize on all cellular life forms. The relative abundances of different classes of viruses are dramatically different between prokaryotes and eukaryotes. In prokaryotes, the great majority of viruses possess double-stranded (ds) DNA genomes, with a substantial minority of single-stranded (ss) DNA viruses and only limited presence of RNA viruses. In contrast, in eukaryotes, RNA viruses account for the majority of the virome diversity although ssDNA and dsDNA viruses are common as well. Phylogenomic analysis yields tangible clues for the origins of major classes of eukaryotic viruses and in particular their likely roots in prokaryotes. Specifically, the ancestral genome of positive-strand RNA viruses of eukaryotes might have been assembled de novo from genes derived from prokaryotic retroelements and bacteria although a primordial origin of this class of viruses cannot be ruled out. Different groups of double-stranded RNA viruses derive either from dsRNA bacteriophages or from positive-strand RNA viruses. The eukaryotic ssDNA viruses apparently evolved via a fusion of genes from prokaryotic rolling circle-replicating plasmids and positive-strand RNA viruses. Different families of eukaryotic dsDNA viruses appear to have originated from specific groups of bacteriophages on at least two independent occasions. Polintons, the largest known eukaryotic transposons, predicted to also form virus particles, most likely, were the evolutionary intermediates between bacterial tectiviruses and several groups of eukaryotic dsDNA viruses including the proposed order “Megavirales” that unites diverse families of large and giant viruses. Strikingly, evolution of all classes of eukaryotic viruses appears to have involved fusion between structural and replicative gene modules derived from different sources along with additional acquisitions of diverse genes. PMID:25771806

ERP correlates of object recognition memory in Down syndrome: Do active and passive tasks measure the same thing?

PubMed

Van Hoogmoed, A H; Nadel, L; Spanò, G; Edgin, J O

2016-02-01

Event related potentials (ERPs) can help to determine the cognitive and neural processes underlying memory functions and are often used to study populations with severe memory impairment. In healthy adults, memory is typically assessed with active tasks, while in patient studies passive memory paradigms are generally used. In this study we examined whether active and passive continuous object recognition tasks measure the same underlying memory process in typically developing (TD) adults and in individuals with Down syndrome (DS), a population with known hippocampal impairment. We further explored how ERPs in these tasks relate to behavioral measures of memory. Data-driven analysis techniques revealed large differences in old-new effects in the active versus passive task in TD adults, but no difference between these tasks in DS. The group with DS required additional processing in the active task in comparison to the TD group in two ways. First, the old-new effect started 150 ms later. Second, more repetitions were required to show the old-new effect. In the group with DS, performance on a behavioral measure of object-location memory was related to ERP measures across both tasks. In total, our results suggest that active and passive ERP memory measures do not differ in DS and likely reflect the use of implicit memory, but not explicit processing, on both tasks. Our findings highlight the need for a greater understanding of the comparison between active and passive ERP paradigms before they are inferred to measure similar functions across populations (e.g., infants or intellectual disability). Copyright © 2016 Elsevier Ltd. All rights reserved.

Longitudinal associations between conduct problems and depressive symptoms among girls and boys with early conduct problems.

PubMed

Poirier, Martine; Déry, Michèle; Temcheff, Caroline E; Toupin, Jean; Verlaan, Pierrette; Lemelin, Jean-Pascal

2016-07-01

Youth with conduct problems (CP) may experience high rates of depressive symptoms (DS). However, little is known about the direction of the longitudinal associations between CP and DS in this specific population. Although girls with CP appear at greater risk than boys for presenting comorbid depression, empirical research on gender differences in these associations is even sparser. The current study used autoregressive latent trajectory models to compare four perspectives with hypotheses regarding the longitudinal associations between CP and DS, while taking into account the evolution of both problems. We also examined gender differences in the longitudinal associations. A total of 345 children (40.6 % female) presenting with a high level of CP in early elementary school (mean age at study inception = 8.52; SD = .94) were evaluated annually over a four-year period (5 measurement time points). The results revealed that CP and DS were quite stable over time. Moreover, CP and DS showed strong covariation at each measurement time point, but only one significant positive cross-lagged association between the two processes, indicating that higher levels of DS at time 3 were associated with higher levels of CP 1 year later. No differences were observed in the longitudinal associations between CP and DS in boys and girls. Given the comorbidity and stability of CP and DS, these findings suggest that DS should be systematically evaluated among children with early clinically significant CP, and treatment plans should include interventions aimed at both CP and DS among children who present with both types of problems.

Polyethylene glycol-coated blue-emitting silicon dots with improved properties for uses in aqueous and biological environments

NASA Astrophysics Data System (ADS)

Rodríguez Sartori, Damián; Lillo, Cristian R.; Romero, Juan J.; Dell‧Arciprete, María Laura; Miñán, Alejandro; de Mele, Mónica Fernández Lorenzo; Gonzalez, Mónica C.

2016-11-01

Grafting of polyethylene glycol (PEG) to ultrasmall photoluminescent silicon dots (SiDs) is expected to improve and expand the applications of these particles to aqueous environments and biological systems. Herein we report a novel one-pot synthesis of robust, highly water compatible PEG-coated SiDs (denoted as PEG-SiDs) of (3.3 ± 0.5) nm size. The nanoparticles’ synthesis is based on the liquid phase oxidation of magnesium silicide using PEG as reaction media and leading to high PEG density grafting. PEG-SiDs enhanced photophysical, photosensitising, and solution properties in aqueous environments are described and compared to those of 2 nm size PEG-coated SiDs with low PEG density grafting (denoted as PEG-NHSiDs) obtained from a multistep synthesis strategy. PEG-SiDs form highly dispersed suspensions in water showing stable photoluminescence and quantum yields of Φ = 0.13 ± 0.04 at 370 nm excitation in air-saturated suspensions. These particles exhibited the capacity of photosensitising the formation of singlet molecular oxygen, not observed for PEG-NHSiDs. PEG robust shielding of the silicon core luminescent properties is further demonstrated in bio-imaging experiments stressing the strong interaction between PEG-SiDs and Staphylococcus aureus smears by observing the photoluminescence of particles. PEG-SiDs were found to be nontoxic to S. aureus cells at concentrations of 100 mg ml-1, though a bacteriostatic effect on S. aureus biofilms was observed upon UV-A irradiation under conditions where light alone has no effect.

Direct stenting versus balloon predilation: Jury is still out.

PubMed

Belardi, Jorge A; Albertal, Mariano

2017-08-01

Compared to balloon predilation, direct stenting (DS) shortens procedural time and reduces radiation and contrast exposure. A meta-analysis that included 7 studies comparing these 2 strategies revealed lower adverse event rate with DS. Studies included in the present meta-analysis were mostly observational and utilized first generation drug-eluting stent. Patient and lesion selection may explain these positive results. © 2017 Wiley Periodicals, Inc.

Down syndrome's brain dynamics: analysis of fractality in resting state.

PubMed

Hemmati, Sahel; Ahmadlou, Mehran; Gharib, Masoud; Vameghi, Roshanak; Sajedi, Firoozeh

2013-08-01

To the best knowledge of the authors there is no study on nonlinear brain dynamics of down syndrome (DS) patients, whereas brain is a highly complex and nonlinear system. In this study, fractal dimension of EEG, as a key characteristic of brain dynamics, showing irregularity and complexity of brain dynamics, was used for evaluation of the dynamical changes in the DS brain. The results showed higher fractality of the DS brain in almost all regions compared to the normal brain, which indicates less centrality and higher irregular or random functioning of the DS brain regions. Also, laterality analysis of the frontal lobe showed that the normal brain had a right frontal laterality of complexity whereas the DS brain had an inverse pattern (left frontal laterality). Furthermore, the high accuracy of 95.8 % obtained by enhanced probabilistic neural network classifier showed the potential of nonlinear dynamic analysis of the brain for diagnosis of DS patients. Moreover, the results showed that the higher EEG fractality in DS is associated with the higher fractality in the low frequencies (delta and theta), in broad regions of the brain, and the high frequencies (beta and gamma), majorly in the frontal regions.

Investigating Engineered Ribonucleoprotein Particles to Improve Oral RNAi Delivery in Crop Insect Pests

PubMed Central

Gillet, François-Xavier; Garcia, Rayssa A.; Macedo, Leonardo L. P.; Albuquerque, Erika V. S.; Silva, Maria C. M.; Grossi-de-Sa, Maria F.

2017-01-01

Genetically modified (GM) crops producing double-stranded RNAs (dsRNAs) are being investigated largely as an RNA interference (RNAi)-based resistance strategy against crop insect pests. However, limitations of this strategy include the sensitivity of dsRNA to insect gut nucleases and its poor insect cell membrane penetration. Working with the insect pest cotton boll weevil (Anthonomus grandis), we showed that the chimeric protein PTD-DRBD (peptide transduction domain—dsRNA binding domain) combined with dsRNA forms a ribonucleoprotein particle (RNP) that improves the effectiveness of the RNAi mechanism in the insect. The RNP slows down nuclease activity, probably by masking the dsRNA. Furthermore, PTD-mediated internalization in insect gut cells is achieved within minutes after plasma membrane contact, limiting the exposure time of the RNPs to gut nucleases. Therefore, the RNP provides an approximately 2-fold increase in the efficiency of insect gene silencing upon oral delivery when compared to naked dsRNA. Taken together, these data demonstrate the role of engineered RNPs in improving dsRNA stability and cellular entry, representing a path toward the design of enhanced RNAi strategies in GM plants against crop insect pests. PMID:28503153

Investigating Engineered Ribonucleoprotein Particles to Improve Oral RNAi Delivery in Crop Insect Pests.

PubMed

Gillet, François-Xavier; Garcia, Rayssa A; Macedo, Leonardo L P; Albuquerque, Erika V S; Silva, Maria C M; Grossi-de-Sa, Maria F

2017-01-01

Genetically modified (GM) crops producing double-stranded RNAs (dsRNAs) are being investigated largely as an RNA interference (RNAi)-based resistance strategy against crop insect pests. However, limitations of this strategy include the sensitivity of dsRNA to insect gut nucleases and its poor insect cell membrane penetration. Working with the insect pest cotton boll weevil ( Anthonomus grandis ), we showed that the chimeric protein PTD-DRBD (peptide transduction domain-dsRNA binding domain) combined with dsRNA forms a ribonucleoprotein particle (RNP) that improves the effectiveness of the RNAi mechanism in the insect. The RNP slows down nuclease activity, probably by masking the dsRNA. Furthermore, PTD-mediated internalization in insect gut cells is achieved within minutes after plasma membrane contact, limiting the exposure time of the RNPs to gut nucleases. Therefore, the RNP provides an approximately 2-fold increase in the efficiency of insect gene silencing upon oral delivery when compared to naked dsRNA. Taken together, these data demonstrate the role of engineered RNPs in improving dsRNA stability and cellular entry, representing a path toward the design of enhanced RNAi strategies in GM plants against crop insect pests.

Joint attention in Down syndrome: A meta-analysis.

PubMed

Hahn, Laura J; Loveall, Susan J; Savoy, Madison T; Neumann, Allie M; Ikuta, Toshikazu

2018-07-01

Some studies have indicated that joint attention may be a relative strength in Down syndrome (DS), but other studies have not. To conduct a meta-analysis of joint attention in DS to more conclusively determine if this is a relative strength or weakness when compared to children with typical development (TD), developmental disabilities (DD), and autism spectrum disorder (ASD). Journal articles published before September 13, 2016, were identified by using the search terms "Down syndrome" and "joint attention" or "coordinating attention". Identified studies were reviewed and coded for inclusion criteria, descriptive information, and outcome variables. Eleven studies (553 participants) met inclusion criteria. Children with DS showed similar joint attention as TD children and higher joint attention than children with DD and ASD. Meta-regression revealed a significant association between age and joint attention effect sizes in the DS vs. TD contrast. Joint attention appears to not be a weakness for children with DS, but may be commensurate with developmental level. Joint attention may be a relative strength in comparison to other skills associated with the DS behavioral phenotype. Early interventions for children with DS may benefit from leveraging joint attention skills. Copyright © 2018 Elsevier Ltd. All rights reserved.

Primary caregivers' awareness and perception of early-onset dementia conditions in adolescents and young and middle-aged adults with Down syndrome.

PubMed

Lin, Jin-Ding; Chen, Wen-Xiu; Hsu, Shang-Wei; Lin, Lan-Ping; Lin, Fu-Gong; Tang, Chi-Chieh; Wu, Jia-Ling; Chu, Cordia; Chou, Yu-Ching

2014-09-01

The present study aims to investigate the onset of dementia conditions using the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID) scale and to identify the possible factors associated with DSQIID scores in people with Down syndrome (DS). The study population was recruited from the voluntary registry members of the Republic of China Foundation for Persons with Down syndrome; primary caregivers provided DSQIID information on 196 adolescents and adults with DS (aged 15-48 years) who were entered into the database and analyzed using SPSS 20.0 software. The results described the distribution of early-onset dementia conditions in 53 adolescents and adults with DS, and 2.6% of the subjects with DS had possible dementia (DSQIID score ≧ 20). Univariate analyses found that older age (p=0.001) and comorbid conditions (p=0.003) were significantly associated with DSQIID scores. Older subjects were more likely to have higher DSQIID scores than were younger age groups after ANOVA and Scheffe's tests. Lastly, a multiple linear regression analysis revealed that age (p<0.01), severe disability level (p<0.05) and comorbid condition (p<0.01) significantly explained 13% of the variation in DSQIID scores after adjusting for the factors of gender, education level and multiple disabilities in adolescents and adults with DS. The study highlights that future research should focus on the occurrence of dementia in people with DS and on identifying its influencing factors based on sound measurements, to initiate appropriate healthy aging policies for this group of people. Copyright © 2014 Elsevier Ltd. All rights reserved.

Covered duodenal self-expandable metal stents prolong biliary stent patency in double stenting: The largest series of bilioduodenal obstruction.

PubMed

Hori, Yasuki; Naitoh, Itaru; Hayashi, Kazuki; Kondo, Hiromu; Yoshida, Michihiro; Shimizu, Shuya; Hirano, Atsuyuki; Okumura, Fumihiro; Ando, Tomoaki; Jinno, Naruomi; Takada, Hiroki; Togawa, Shozo; Joh, Takashi

2018-03-01

Endoscopic biliary and duodenal stenting (DS; double stenting) is widely accepted as a palliation therapy for malignant bilioduodenal obstruction. The aim of the current study was to investigate the patency and adverse events of duodenal and biliary stents in patients with DS. Patients who underwent DS from April 2004 to March 2017 were analyzed retrospectively with regard to clinical outcomes and predictive factors of recurrent biliary and duodenal obstruction (recurrent biliary obstruction [RBO] and recurrent duodenal obstruction [RDO]). A total of 109 consecutive patients was enrolled. Technical success of DS was achieved in 108 patients (99.1%). Symptoms due to biliary and duodenal obstruction were improved in 89 patients (81.7%). RBO occurred in 25 patients (22.9%) and RDO in 13 (11.9%). The median times to RBO and RDO from DS were 87 and 76 days, respectively. Placement of a duodenal uncovered self-expandable metal stent (U-SEMS) was significantly associated with RBO in the multivariable analysis (P = 0.007). Time to RBO was significantly longer in the duodenal covered self-expandable metal stent group than in the U-SEMS group (P = 0.003). No predictive factors of RDO were detected, and duodenal stent type was not associated with the time to RDO (P = 0.724). Double stenting was safe and effective for malignant bilioduodenal obstruction. Duodenal U-SEMS is a risk factor for RBO. The covered self-expandable metal stent is the preferred type of duodenal SEMS in patients with DS (Clinical trial registration number: UMIN000027606). © 2017 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.

A Multicentre Italian Validation Study in Aging Adults with Down Syndrome and Other Forms of Intellectual Disabilities: Dementia Screening Questionnaire for Individuals with Intellectual Disabilities.

PubMed

Gomiero, Tiziano; Bertelli, Marco; Deb, Shoumitro; Weger, Elisabeth; Marangoni, Annachiara; De Bastiani, Elisa; Mantesso, Ulrico; De Vreese, Luc Pieter

2017-01-01

The USA National Task Group (NTG) guidelines advocate the use of an adapted version of Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID) for dementia screening of individuals with Down syndrome (DS) and with other forms of ID (non-DS). In order to meet these guidelines, this study verifies the psychometric properties of an Italian version of the original DSQIID in a population composed of adults aged 40 years and over with DS and non-DS ID. Internal consistency, inter-rater and intra-rater reliabilities, structural validity, convergent validity and known group differences of DSQIID-I were assessed with 200 individuals with ID (mean of 55.2 years; range: 40-80 years) recruited from 15 different centers in Italy. Diagnosis of dementia was done according to IASSID diagnostic criteria and its degree of clinical certainty was defined according to Silverman et al.'s classification (2004). Cronbach's alpha for the DSQIID-I was 0.94. The ICCs for inter-rater and test-retest reliability were both 0.89. A Principal Component analysis revealed three domains, namely memory and confusion- related items, motor and functional disabilities, depression and apathy, which explained almost 40% of the overall variance. The total DSQIID-I score correlated significantly with DMR and differed significantly among those individuals (n = 34) with cognitive decline from those without (n = 166). Age, gender and severity of ID were unrelated to the DSQIID-I. The present study confirms the cross-cultural value of DSQIID which was proved to be a psychometrically valid and user-friendly observer-rated scale for dementia screening in adults with both DS and non-DS ID. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Explicit processing demands reveal language modality-specific organization of working memory.

PubMed

Rudner, Mary; Rönnberg, Jerker

2008-01-01

The working memory model for Ease of Language Understanding (ELU) predicts that processing differences between language modalities emerge when cognitive demands are explicit. This prediction was tested in three working memory experiments with participants who were Deaf Signers (DS), Hearing Signers (HS), or Hearing Nonsigners (HN). Easily nameable pictures were used as stimuli to avoid confounds relating to sensory modality. Performance was largely similar for DS, HS, and HN, suggesting that previously identified intermodal differences may be due to differences in retention of sensory information. When explicit processing demands were high, differences emerged between DS and HN, suggesting that although working memory storage in both groups is sensitive to temporal organization, retrieval is not sensitive to temporal organization in DS. A general effect of semantic similarity was also found. These findings are discussed in relation to the ELU model.

Screening of celiac disease in Down syndrome - Old and new dilemmas

PubMed Central

Pavlovic, Momcilo; Berenji, Karolina; Bukurov, Marko

2017-01-01

Celiac disease (CD) is a common and well defined autoimmune disorder caused by gliadin and related proteins of wheat, rye, and barley. Epidemiologic studies confirmed that CD is highly associated with other autoimmune diseases and with Down syndrome (DS). The symptomatic form of CD in patients with DS is more frequent than asymptomatic forms. However, growth impairment, anemia, intermittent diarrhea, and constipation are symptoms and signs typically of children with DS without CD. Late identification of the disease can lead to various complications, sometimes even very severe. Therefore, systematic screening for CD is essential in the management of children and adolescents with DS. Many medical organizations recommend screening in this group of patients. However, current policy statements vary in their recommendations for screening and there is still a need for establishing uniform diagnostic criteria. PMID:28798921

Screening of celiac disease in Down syndrome - Old and new dilemmas.

PubMed

Pavlovic, Momcilo; Berenji, Karolina; Bukurov, Marko

2017-07-16

Celiac disease (CD) is a common and well defined autoimmune disorder caused by gliadin and related proteins of wheat, rye, and barley. Epidemiologic studies confirmed that CD is highly associated with other autoimmune diseases and with Down syndrome (DS). The symptomatic form of CD in patients with DS is more frequent than asymptomatic forms. However, growth impairment, anemia, intermittent diarrhea, and constipation are symptoms and signs typically of children with DS without CD. Late identification of the disease can lead to various complications, sometimes even very severe. Therefore, systematic screening for CD is essential in the management of children and adolescents with DS. Many medical organizations recommend screening in this group of patients. However, current policy statements vary in their recommendations for screening and there is still a need for establishing uniform diagnostic criteria.

Comparing outcomes and costs between contingent and combined first-trimester screening strategies for Down's syndrome.

PubMed

Martín, I; Gibert, M J; Aulesa, C; Alsina, M; Casals, E; Bauça, J M

2015-06-01

To compare a contingent strategy with a combined strategy for prenatal detection of Down's syndrome (DS) in terms of cost, outcomes and safety. The contingent strategy was based on a simulation, removing measurement of the free beta subunit of human chorionic gonadotropin (free βhCG) and calculating the DS risk retrospectively in 32,371 pregnant women who had been screened with the combined strategy in the first trimester. In the contingent strategy, a risk between 1:31 and 1:1000 in the first trimester indicated further testing in the second trimester (alpha-fetoprotein, inhibin A, unconjugated oestriol and free βhCG). The cut-off risk values for the contingent and combined strategies in the first trimester were 1:30 and 1:250, respectively, and the cut-off risk value for integrated screening in the second trimester was 1:250. Costs were compared in terms of avoided DS births, and the ratio of loss of healthy fetuses following invasive procedures per avoided DS birth was calculated. The combined strategy had sensitivity of 40/44 (90.9%) and a false-positive rate of 2.8%. Corresponding values for the contingent strategy were 39/44 (88.6%) and 1.3%, respectively. Only 11% of pregnant women required tests in the second trimester, and the approximate cost reduction for each avoided DS birth was 5000€. The ratio of lost healthy fetuses following invasive procedures per avoided DS birth improved by up to 0.65. The contingent strategy has similar effectiveness to the combined strategy, but has lower costs and fewer invasive procedures. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Trying to see, failing to focus: near visual impairment in Down syndrome

PubMed Central

Doyle, Lesley; Saunders, Kathryn J.; Little, Julie-Anne

2016-01-01

The majority of individuals with Down syndrome (DS) do not exhibit accurate accommodation, with the aetiology of this deficit unknown. This study examines the mechanism underlying hypoaccommodation in DS by simultaneously investigating the ‘near triad’ – accommodation, vergence and pupillary response. An objective photorefraction system measured accommodation, pupil size and gaze position (vergence) under binocular conditions while participants viewed an animated movie at 50, 33, 25 and 20 cm. Participants were aged 6–16 years (DS = 41, controls = 76). Measures were obtained from 59% of participants with DS and 99% of controls. Accommodative response was significantly less in DS (p < 0.001) and greater accommodative deficits were associated with worsening visual acuity (p = 0.02). Vergence responses were as accurate in DS as in controls (p = 0.90). Habitual pupil diameter did not differ between groups (p = 0.24) but reduced significantly with increasing accommodative demand in both participants with and without DS (p < 0.0001). This study is the first to report simultaneous binocular measurement of the near triad in DS demonstrating that hypoaccommodation is linked to poor visual acuity. Vergence responses were accurate indicating that hypoaccommodation cannot be dismissed as a failure to visually engage with near targets, but rather is a consequence of underlying neurological or physiological deficits. PMID:26847360

Childhood cognitive development in 22q11.2 deletion syndrome: case-control study.

PubMed

Chawner, Samuel J R A; Doherty, Joanne L; Moss, Hayley; Niarchou, Maria; Walters, James T R; Owen, Michael J; van den Bree, Marianne B M

2017-10-01

Background 22q11.2 deletion syndrome (22q11.2DS) is associated with a high risk of childhood as well as adult psychiatric disorders, in particular schizophrenia. Childhood cognitive deterioration in 22q11.2DS has previously been reported, but only in studies lacking a control sample. Aims To compare cognitive trajectories in children with 22q11.2DS and unaffected control siblings. Method A longitudinal study of neurocognitive functioning (IQ, executive function, processing speed and attention) was conducted in children with 22q11.2DS ( n = 75, mean age time 1 ( T 1 ) 9.9, time 2 ( T 2 ) 12.5) and control siblings ( n = 33, mean age T 1 10.6, T 2 13.4). Results Children with 22q11.2DS exhibited deficits in all cognitive domains. However, mean scores did not indicate deterioration. When individual trajectories were examined, some participants showed significant decline over time, but the prevalence was similar for 22q11.2DS and control siblings. Findings are more likely to reflect normal developmental fluctuation than a 22q11.2DS-specific abnormality. Conclusions Childhood cognitive deterioration is not associated with 22q11.2DS. Contrary to previous suggestions, we believe it is premature to recommend repeated monitoring of cognitive function for identifying individual children with 22q11.2DS at high risk of developing schizophrenia. © The Royal College of Psychiatrists 2017.

Assessment of the Knowledge of the Decimal Number System Exhibited by Students with Down Syndrome

ERIC Educational Resources Information Center

Noda, Aurelia; Bruno, Alicia

2017-01-01

This paper presents an assessment of the understanding of the decimal numeral system in students with Down Syndrome (DS). We followed a methodology based on a descriptive case study involving six students with DS. We used a framework of four constructs (counting, grouping, partitioning and numerical relationships) and five levels of thinking for…

Cross Syndrome Comparison of Sleep Problems in Children with Down Syndrome and Williams Syndrome

ERIC Educational Resources Information Center

Ashworth, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara

2013-01-01

Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD)…

Now It Is Time for Your Child to Go to School, How Do You Feel?

ERIC Educational Resources Information Center

Ryde-Brandt, Brita

1991-01-01

This study, with 13 mothers of Down's Syndrome children (ages 7 to 8) and comparison groups of mothers of motor handicapped children and of children with both mental retardation and psychotic symptoms, found mood disturbances uncommon in the mothers of DS and motor handicapped children. DS mothers' experience of social support was generally not…