The genetic control of phenformin 4-hydroxylation.

PubMed Central

Shah, R R; Evans, D A; Oates, N S; Idle, J R; Smith, R L

1985-01-01

Previously published results of phenformin 4-hydroxylation in 195 unrelated white British volunteers and 87 family members of 27 randomly selected probands have been subjected to genetic analysis. The results clearly show that about 9% of this population has a genetically determined defect in carrying out this oxidation reaction. The character for the defect is inherited in a Mendelian autosomal recessive fashion. The polymorphism shows a substantial degree of dominance. PMID:4078865

Work-Related Barriers and Facilitators to Antiretroviral Therapy Adherence in Persons Living with HIV Infection

PubMed Central

Torres-Madriz, Gilberto; Lerner, Debra; Ruthazer, Robin; Rogers, William H.; Wilson, Ira B.

2013-01-01

Little is known about how the structure of work affects adherence to HIV antiretroviral therapy. We surveyed participants in an adherence intervention study to learn more about job characteristics, including measures of psychological demand and control, and job accommodations. Adherence was assessed using the Medication Event Monitoring System (MEMS). Of 156 trial subjects, 69 were employed, and these 69 made 229 study visits. Psychological demands and control were unrelated to adherence, but the presence of workplace accommodations was significantly associated with adherence (p <0.05). In multivariable models adjusting for clustering, those who reported having received an accommodation were 12% more adherent than those who did not receive an accommodation. Adherence was unrelated to experiencing side effects affecting work performance. Having the ability to institute job accommodations was more important to adherence than the psychosocial structure of the work. These potential benefits of requesting modifications need to be weighed against the possible risks of workplace disclosure. PMID:20091340

Cognitive function and distress after common whiplash injury.

PubMed

Smed, A

1997-02-01

In a prospective study 29 patients fulfilled the criteria of Whiplash-Associated Disorders grade III in the Quebec classification. One month postinjury, computerized neuropsychological tests, a clinical interview and the symptom checklist SCL-90-R were administered. Three whiplash scales were extrapolated from SCL-90-R: pain, subjective cognitive difficulties and sleep disorders. SCL-90-R was repeated 6 months later. One month after the accident, 85% of the patients had resumed work. Subjective cognitive disturbances, however, were frequent but unrelated to test performances, which were within the normal range. Patients reporting stressful life events unrelated to the injury had more symptoms and elevated levels of distress on all SCL-90-R syndrome scales. At follow-up their distress was unchanged, and subjective cognitive function had deteriorated. Stressful life events unrelated to the accident and a high level of distress 1 month postinjury may augment the risk of "late whiplash syndrome". Reassessment 3-6 weeks postinjury as recommended by the Quebec Task Force should include assessment of complicating social factors and a psychological symptom checklist.

A randomized controlled trial of single point acupuncture in primary dysmenorrhea.

PubMed

Liu, Cun-Zhi; Xie, Jie-Ping; Wang, Lin-Peng; Liu, Yu-Qi; Song, Jia-Shan; Chen, Yin-Ying; Shi, Guang-Xia; Zhou, Wei; Gao, Shu-Zhong; Li, Shi-Liang; Xing, Jian-Min; Ma, Liang-Xiao; Wang, Yan-Xia; Zhu, Jiang; Liu, Jian-Ping

2014-06-01

Acupuncture is often used for primary dysmenorrhea. But there is no convincing evidence due to low methodological quality. We aim to assess immediate effect of acupuncture at specific acupoint compared with unrelated acupoint and nonacupoint on primary dysmenorrhea. The Acupuncture Analgesia Effect in Primary Dysmenorrhoea-II is a multicenter controlled trial conducted in six large hospitals of China. Patients who met inclusion criteria were randomly assigned to classic acupoint (N = 167), unrelated acupoint (N = 167), or non-acupoint (N = 167) group on a 1:1:1 basis. They received three sessions with electro-acupuncture at a classic acupoint (Sanyinjiao, SP6), or an unrelated acupoint (Xuanzhong, GB39), or nonacupoint location, respectively. The primary outcome was subjective pain as measured by a 100-mm visual analog scale (VAS). Measurements were obtained at 0, 5, 10, 30, and 60 minutes following the first intervention. In addition, patients scored changes of general complaints using Cox retrospective symptom scales (RSS-Cox) and 7-point verbal rating scale (VRS) during three menstrual cycles. Secondary outcomes included VAS score for average pain, pain total time, additional in-bed time, and proportion of participants using analgesics during three menstrual cycles. Five hundred and one people underwent random assignment. The primary comparison of VAS scores following the first intervention demonstrated that classic acupoint group was more effective both than unrelated acupoint (-4.0 mm, 95% CI -7.1 to -0.9, P = 0.010) and nonacupoint (-4.0 mm, 95% CI -7.0 to -0.9, P = 0.012) groups. However, no significant differences were detected among the three acupuncture groups for RSS-Cox or VRS outcomes. The per-protocol analysis showed similar pattern. No serious adverse events were noted. Specific acupoint acupuncture produced a statistically, but not clinically, significant effect compared with unrelated acupoint and nonacupoint acupuncture in primary dysmenorrhea patients. Future studies should focus on effects of multiple points acupuncture on primary dysmenorrhea. Wiley Periodicals, Inc.

A cis-phase interaction study of genetic variants within the MAOA gene in major depressive disorder.

PubMed

Zhang, JieXu; Chen, YanBo; Zhang, KeRang; Yang, Hong; Sun, Yan; Fang, Yue; Shen, Yan; Xu, Qi

2010-11-01

The genetic basis of major depressive disorder (MDD) has been explored extensively, but the mode of transmission of the disease has yet to be established. To better understand the mechanism by which the monoamine oxidase A (MAOA) gene may play a role in developing MDD, the present work examined the cis-phase interaction between genetic variants within the MAOA gene for the pathogenesis of MDD. A variable number tandem repeat (VNTR) and 19 single nucleotide polymorphisms (SNPs) within the gene were genotyped in 512 unrelated patients with MDD and 567 unrelated control subjects among a Chinese population. Quantitative real-time polymerase chain reaction analysis was applied to test the effect of genetic variants on expression of the MAOA gene in MDD. Neither the VNTR polymorphism nor seven informative SNPs showed allelic association with MDD, but the cis-acting interactions between the VNTR polymorphism and four individual SNPs were strongly associated with MDD risk, of which the VNTR-rs1465107 combination showed the strongest association (p = .000011). Quantitative real-time polymerase chain reaction analysis showed that overall relative quantity of MAOA messenger RNA was significantly higher in patients with MDD than in control subjects (fold change = 5.28, p = 1.7 × 10⁻⁷) and that in the male subjects carrying the VNTR-L, rs1465107-A, rs6323-G, rs2072743-A, or rs1137070-T alleles, expression of MAOA messenger RNA was significantly higher in the patient group than in the control group. The cis-phase interaction between the VNTR polymorphism and functional SNPs may contribute to the etiology of MDD. Copyright © 2010 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Self-report measures among transplant candidates: the impact of evaluative situations.

PubMed

Putzke, J D; Boll, T J; Williams, M A; Benza, R C; Kirklin, J K; McGiffin, D C

2001-03-01

Experiment 1 was a between-subjects design comparing transplant candidates completing self-report measures under an evaluative versus an anonymous research condition. A cardiac disease group and a healthy community group served as controls. Transplant candidates in the anonymous research condition reported significantly more depression, anxiety, and negative affectivity as compared with transplant candidates in the evaluative condition and community controls. In contrast, the evaluative transplant group (a) did not differ from the community controls on any of the self-report measures, and (b) reported significantly less depression than cardiac disease controls. Experiment 2 was a within-subjects design with transplant candidates completing self-report measures under both an evaluative and an anonymous research condition. Significantly greater anxiety was reported under the anonymous research condition. Social desirability was significantly related to change in self-reported anxiety and depression across conditions, but was unrelated to change in endorsement of personality characteristics.

Truthiness and falsiness of trivia claims depend on judgmental contexts.

PubMed

Newman, Eryn J; Garry, Maryanne; Unkelbach, Christian; Bernstein, Daniel M; Lindsay, D Stephen; Nash, Robert A

2015-09-01

When people rapidly judge the truth of claims presented with or without related but nonprobative photos, the photos tend to inflate the subjective truth of those claims--a "truthiness" effect (Newman et al., 2012). For example, people more often judged the claim "Macadamia nuts are in the same evolutionary family as peaches" to be true when the claim appeared with a photo of a bowl of macadamia nuts than when it appeared alone. We report several replications of that effect and 3 qualitatively new findings: (a) in a within-subjects design, when people judged claims paired with a mix of related, unrelated, or no photos, related photos produced truthiness but unrelated photos had no significant effect relative to no photos; (b) in a mixed design, when people judged claims paired with related (or unrelated) and no photos, related photos produced truthiness and unrelated photos produced "falseness;" and (c) in a fully between design, when people judged claims paired with either related, unrelated, or no photos, neither truthiness nor falsiness occurred. Our results suggest that photos influence people's judgments when a discrepancy arises in the expected ease of processing, and also support a mechanism in which-against a backdrop of an expected standard-related photos help people generate pseudoevidence to support claims. (c) 2015 APA, all rights reserved).

Carpal tunnel syndrome in the Turkish steel industry.

PubMed

Gedizlioglu, Muhtesem; Arpaci, Esra; Cevher, Demet; Ce, Pinar; Kulan, Can Ahmet; Colak, Ilhan; Duzgun, Baran

2008-05-01

Certain occupations are reported to be associated with a high risk for carpal tunnel syndrome (CTS). In this study, we investigated the development of CTS in iron-steel industry workers. Subjects were recruited from a factory of 650 workers and assessed by means of history, physical examination and electrophysiological testing. Seventy-nine subjects from the factory and 53 healthy controls with occupations unrelated to heavy physical work were assessed. None of the worker group had electrophysiological evidence of CTS. One subject in the control group has electrophysiological evidence of CTS. In the worker group, all sensory nerve conduction velocities and ulnar nerve action potential amplitudes in both hands and distal motor latencies were statistically different. In our study, among a group of heavy labourers, no cases of CTS were detected. However, all electrophysiologic parameters of workers were different from controls. Our results point to a diffuse, but subclinical injury of peripheral nerves under heavy physical work conditions, instead of a local effect such as CTS.

Similar outcome of upfront-unrelated and matched sibling stem cell transplantation in idiopathic paediatric aplastic anaemia. A study on behalf of the UK Paediatric BMT Working Party, Paediatric Diseases Working Party and Severe Aplastic Anaemia Working Party of EBMT.

PubMed

Dufour, Carlo; Veys, Paul; Carraro, Elisa; Bhatnagar, Neha; Pillon, Marta; Wynn, Rob; Gibson, Brenda; Vora, Ajay J; Steward, Colin G; Ewins, Anna M; Hough, Rachael E; de la Fuente, Josu; Velangi, Mark; Amrolia, Persis J; Skinner, Roderick; Bacigalupo, Andrea; Risitano, Antonio M; Socie, Gerard; Peffault de Latour, Regis; Passweg, Jakob; Rovo, Alicia; Tichelli, André; Schrezenmeier, Hubert; Hochsmann, Britta; Bader, Peter; van Biezen, Anja; Aljurf, Mahmoud D; Kulasekararaj, Austin; Marsh, Judith C; Samarasinghe, Sujith

2015-11-01

We explored the feasibility of unrelated donor haematopoietic stem cell transplant (HSCT) upfront without prior immunosuppressive therapy (IST) in paediatric idiopathic severe aplastic anaemia (SAA). This cohort was then compared to matched historical controls who had undergone first-line therapy with a matched sibling/family donor (MSD) HSCT (n = 87) or IST with horse antithymocyte globulin and ciclosporin (n = 58) or second-line therapy with unrelated donor HSCT post-failed IST (n = 24). The 2-year overall survival in the upfront cohort was 96 ± 4% compared to 91 ± 3% in the MSD controls (P = 0·30) and 94 ± 3% in the IST controls (P = 0·68) and 74 ± 9% in the unrelated donor HSCT post-IST failure controls (P = 0·02).The 2-year event-free survival in the upfront cohort was 92 ± 5% compared to 87 ± 4% in MSD controls (P = 0·37), 40 ± 7% in IST controls (P = 0·0001) and 74 ± 9% in the unrelated donor HSCT post-IST failure controls (n = 24) (P = 0·02). Outcomes for upfront-unrelated donor HSCT in paediatric idiopathic SAA were similar to MSD HSCT and superior to IST and unrelated donor HSCT post-IST failure. Front-line therapy with matched unrelated donor HSCT is a novel treatment approach and could be considered as first-line therapy in selected paediatric patients who lack a MSD. © 2015 John Wiley & Sons Ltd.

On the role of attention and emotion in morality: attentional control modulates unrelated disgust in moral judgments.

PubMed

Van Dillen, Lotte F; van der Wal, Reine C; van den Bos, Kees

2012-09-01

The emotion of disgust can influence people's moral judgments, even if this emotion objectively is unrelated to the moral judgment in question. The present work demonstrates that attentional control regulates this effect. In three studies, disgust was induced. In an unrelated part of the studies, participants then judged a moral transgression. Disgust resulted in more severe moral judgments when attentional control (either measured by means of individual predisposition or manipulated with experimental control) was weak as opposed to strong (Studies 1-3). Findings further showed that attentional control mediated the positive relation between the intensity of participants' disgust responses and the severity of their moral judgments (Study 2). Moreover, attentional control has its effects through the regulation of affective processing (Study 3). Taken together, the findings suggest that unrelated influences of disgust on moral judgments are contingent on the attention system.

Prevalence of Extracranial Venous Narrowing on Magnetic Resonance Venography Is Similar in People With Multiple Sclerosis, Their Siblings, and Unrelated Healthy Controls: A Blinded, Case-Control Study.

PubMed

Martin, Nancy; Traboulsee, Anthony L; Machan, Lindsay; Klass, Darren; Ellchuk, Tasha; Zhao, Yinshan; Knox, Katherine B; Kopriva, David; Lala, Shantilal; Nickel, Darren; Otani, Robert; Perera, Warren R; Rauscher, Alexander; Sadovnick, A Dessa; Szkup, Peter; Li, David K

2017-05-01

The study sought to assess and compare the prevalence of narrowing of the major extracranial veins in subjects with multiple sclerosis and controls, and to assess the sensitivity and specificity of magnetic resonance venography (MRV) for describing extracranial venous narrowing as it applies to the chronic cerebrospinal venous insufficiency theory, using catheter venography (CV) as the gold standard. The jugular and azygos veins were assessed with time-of-flight MRV in this assessor-blinded, case-control study of subjects with multiple sclerosis, their unaffected siblings, and unrelated controls. The veins were evaluated by diameter and area, and compared with CV. Collateral vessels were also analyzed for maximal diameter, as a potential indicator of compensatory flow. A high prevalence of extracranial venous narrowing was demonstrated in all study groups, collectively up to 84% by diameter criteria and 90% by area, with no significant difference between the groups when assessed independently (P = .34 and .63, respectively). There was high interobserver variability in the reporting of vessel narrowing (kappa = 0.32), and poor vessel per vessel correlation between narrowing on MRV and CV (kappa = 0.064). Collateral neck veins demonstrated no convincing difference in maximum size or correlation with jugular narrowing. There is a high prevalence of narrowing of the major extracranial veins on MRV in all 3 study groups, with no significant difference between them. These findings do not support the chronic cerebrospinal venous insufficiency theory. Although MRV has shown a high sensitivity for identifying venous narrowing, time-of-flight imaging demonstrates poor interobserver agreement and poor specificity when compared with the gold standard CV. Copyright © 2016 Canadian Association of Radiologists. Published by Elsevier Inc. All rights reserved.

Psychiatric epidemiologic study of occupational lead exposure

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

Parkinson, D.K.; Ryan, C.; Bromet, E.J.

1986-02-01

The association of occupational lead exposure with neuropsychiatric functioning was evaluated using data collected in 1982 in eastern Pennsylvania from 288 lead-exposed workers and 181 nonexposed subjects. Both current and cumulative exposure indices were used. After controlling for age, education, and income, few meaningful differences between exposed and control workers were found on either neuropsychologic or psychosocial variables. Dose-response analyses indicated that among lead-exposed workers, cumulative and current exposure were unrelated to neuropsychologic performance. The only meaningful associations occurred between exposure and level of conflict in interpersonal relationships. The results thus give evidence against hypotheses suggesting adverse neuropsychologic effects.

Glucose intolerance, insulin resistance and cardiovascular risk factors in first degree relatives of women with polycystic ovary syndrome.

PubMed

Yilmaz, Murat; Bukan, Neslihan; Ersoy, Reyhan; Karakoç, Ayhan; Yetkin, Ilhan; Ayvaz, Göksun; Cakir, Nuri; Arslan, Metin

2005-09-01

The aim of the present study was to evaluate insulin resistance (IR), glucose tolerance status and cardiovascular risk factors in first degree relatives of patients with polycystic ovary syndrome (PCOS). A total of 120 family members [Mothers(PCOS) (n = 40), Fathers(PCOS) (n = 38), Sisters(PCOS) (n = 25) and Brothers(PCOS) (n = 17)] of 55 patients with PCOS and 75 unrelated healthy control subjects without a family history of diabetes or PCOS (four age- and weight-matched subgroups, i.e. Control(Mothers), Control(Fathers), Control(Sisters) and Control(Brothers)) were studied. IR was assessed by homeostatic model assessment (HOMA IR), log HOMA, insulin sensivity index (ISI), the quantitative insulin sensitivity check index (QUICKI) and area under the curve for insulin during the oral glucose tolerance test (AUCI, AUCG) in with normal glucose tolerance (NGT) subjects and controls. Serum adiponectin, resistin, homocysteine and lipid levels were measured. The prevalence of any degree of glucose intolerance was 40% in Mothers(PCOS) and 52% in Fathers(PCOS). In total, six (15%) glucose tolerance disorders were identified in the Control(Mothers) and Control(Fathers) in first degree relatives of control subjects. The first degree relatives of PCOS patients had significantly higher serum fasting insulin, HOMA-IR, Log HOMA and AUCI levels in all subgroups than the control subjects. The control subjects had significantly elevated QUCKI, ISI levels and serum adiponectin levels compared to the first degree relatives of PCOS subjects in all subgroups. The serum Hcy and resistin levels increased significantly in both Fathers(PCOS) and Mothers(PCOS) groups but not Brothers(PCOS) and Sister(PCOS). The results of the present study support the finding that the first degree relatives of PCOS patients carry an increased risk of cardiovascular disease, as do PCOS patients.

For Whom the Mind Wanders, and When, Varies Across Laboratory and Daily-Life Settings.

PubMed

Kane, Michael J; Gross, Georgina M; Chun, Charlotte A; Smeekens, Bridget A; Meier, Matt E; Silvia, Paul J; Kwapil, Thomas R

2017-09-01

Undergraduates ( N = 274) participated in a weeklong daily-life experience-sampling study of mind wandering after being assessed in the lab for executive-control abilities (working memory capacity; attention-restraint ability; attention-constraint ability; and propensity for task-unrelated thoughts, or TUTs) and personality traits. Eight times a day, electronic devices prompted subjects to report on their current thoughts and context. Working memory capacity and attention abilities predicted subjects' TUT rates in the lab, but predicted the frequency of daily-life mind wandering only as a function of subjects' momentary attempts to concentrate. This pattern replicates prior daily-life findings but conflicts with laboratory findings. Results for personality factors also revealed different associations in the lab and daily life: Only neuroticism predicted TUT rate in the lab, but only openness predicted mind-wandering rate in daily life (both predicted the content of daily-life mind wandering). Cognitive and personality factors also predicted dimensions of everyday thought other than mind wandering, such as subjective judgments of controllability of thought. Mind wandering in people's daily environments and TUTs during controlled and artificial laboratory tasks have different correlates (and perhaps causes). Thus, mind-wandering theories based solely on lab phenomena may be incomplete.

Dispositional mindfulness and the wandering mind: Implications for attentional control in older adults.

PubMed

Fountain-Zaragoza, Stephanie; Londerée, Allison; Whitmoyer, Patrick; Prakash, Ruchika Shaurya

2016-08-01

Age-related cognitive decline brings decreases in functional status. Dispositional mindfulness, the tendency towards present-moment attention, is hypothesized to correspond with enhanced attention, whereas mind-wandering may be detrimental to cognition. The relationships among mindfulness, task-related and task-unrelated thought, and attentional control performance on Go/No-Go and Continuous Performance tasks were examined in older adults. Dispositional mindfulness was negatively associated with task-unrelated thought and was positively associated with reactive control, but not proactive control or Go/No-Go performance. Although mind-wandering was not directly associated with performance, task-unrelated thought mediated the mindfulness-proactive control relation. Fewer task-unrelated thoughts were associated with lower proactive control. Interestingly, this effect was moderated by working memory such that it was present for those with low-average, but not high, working memory. This study highlights the importance of dispositional mindfulness and mind-wandering propensity in accounting for individual differences in attentional control in older adults, providing important targets for future cognitive remediation interventions. Copyright © 2016 Elsevier Inc. All rights reserved.

Relationship of genetically transmitted alpha EEG traits to anxiety disorders and alcoholism

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

Enoch, M.A.; Rohrbaugh, W.; Harris, C.R.

We tested the hypothesis that a heritable EEG trait, the low voltage alpha (LV), is associated with psychiatric disorders. Modest to moderate evidence for genetic linkage of both panic disorder and the low voltage alpha trait to the same region of chromosome 20q has recently been reported, raising the issue of whether there is a phenotypic correlation between these traits. A total of 124 subjects including 50 unrelated index subjects and 74 relatives were studied. Alpha EEG power was measured and EEG phenotypes were impressionistically classified. Subjects were psychiatrically interviewed using the SADS-L and blind-rated by RDC criteria. Alcoholics weremore » four times more likely to be LV (including so-called borderline low voltage alpha) than were nonalcoholic, nonanxious subjects. Alcoholics with anxiety disorder are 10 times more likely to be LV. However, alcoholics without anxiety disorder were similar to nonalcoholics in alpha power. An anxiety disorder (panic disorder, phobia, or generalized anxiety) was found in 14/17 LV subjects as compared to 34/101 of the rest of the sample (P < 0.01). Support for these observations was found in the unrelated index subjects in whom no traits would be shared by familial clustering. Lower alpha power in anxiety disorders was not state-dependent, as indicated by the Spielberger Anxiety Scale. Familial covariance of alpha power was 0.25 (P < 0.01). These findings indicate there may be a shared factor underlying the transmissible low voltage alpha EEG variant and vulnerability to anxiety disorders with associated alcoholism. This factor is apparently not rare, because LV was found in approximately 10% of unrelated index subjects and 5% of subjects free of alcoholism and anxiety disorders. 43 refs., 1 fig., 3 tabs.« less

Association of ghrelin receptor gene polymorphism with bulimia nervosa in a Japanese population.

PubMed

Miyasaka, K; Hosoya, H; Sekime, A; Ohta, M; Amono, H; Matsushita, S; Suzuki, K; Higuchi, S; Funakoshi, A

2006-09-01

Eating disorders (EDs) have a highly heterogeneous etiology and multiple genetic factors might contribute to their pathogenesis. Ghrelin, a novel growth hormone-releasing peptide, enhances appetite and increases food intake, and human ghrelin plasma levels are inversely correlated with body mass index. In the present study, we examined the 171T/C polymorphism of the ghrelin receptor (growth hormone secretagogue receptor, GHSR) gene in patients diagnosed with EDs, because the subjects having ghrelin gene polymorphism (Leu72Met) was not detected in a Japanese population, previously. In addition, beta3 adrenergic receptor gene polymorphism (Try64Arg) and cholecystokinin (CCK)-A receptor (R) gene polymorphism (-81A/G, -128G/T), which are both associated with obesity, were investigated. The subjects consisted of 228 Japanese patients with EDs [96 anorexia nervosa (AN), 116 bulimia nervosa (BN) and 16 not otherwise specified (NOS)]. The age- and gender-matched control group consisted of 284 unrelated Japanese subjects. The frequency of the CC type of the GHSR gene was significantly higher in BN subjects than in control subjects (chi(2) = 4.47, p = 0.035, odds ratio = 2.05, Bonferroni correction: p = 0.070), while the frequency in AN subjects was not different from that in controls. The distribution of neither beta3 adrenergic receptor gene nor CCK-AR polymorphism differed between EDs and control subjects. Therefore, the CC type of GHSR gene polymorphism (171T/C) is a risk factor for BN, but not for AN.

The white-coat effect is unrelated to the difference between clinic and daytime blood pressure and is associated with greater reactivity to public speaking.

PubMed

Palatini, Paolo; Palomba, Daniela; Bertolo, Olivo; Minghetti, Rita; Longo, Daniele; Sarlo, Michela; Pessina, Achille C

2003-03-01

To compare the blood pressure (BP) response to doctor's visit with the BP reaction to a psycho-social challenge and with the difference between clinic and daytime BP (DeltaC-D). We studied 64 young stage-1 hypertensive subjects and 33 normotensive controls. Relationship between direct and surrogate measure of white-coat effect (WCE) and assessment of BP response to public speaking in subjects with normal or increased reaction to BP measurement. The responses to BP measurement by a doctor and to public speaking were assessed with beat-to-beat Finapres recording. DeltaC-D was calculated on the basis of two BP monitorings and used as a surrogate measure of WCE. BP and heart rate changes elicited by the visit were unrelated to DeltaC-D and were correlated to the changes caused by the speech test [P <0.001 for systolic BP (SBP), P = 0.01 for diastolic BP (DBP), and P <0.001 for heart rate]. Hypertensive subjects with SBP response to doctor's visit above the median (hyper-reactive) showed increased reactivity also to public speaking (61 +/- 15 mmHg), while those with BP response below the median (normo-reactive) had a response to the psycho-social challenge (40 +/- 21 mmHg, 0.001 versus hyper-reactive) similar to that of the normotensive controls (38 +/- 17 mmHg). Epinephrine urinary output was greater in the hyper-reactive than the normo-reactive subjects (23 versus 12 microg/24 h, = 0.01). The SBP response to public speaking was greater in the hypertensive subjects with higher systolic daytime BP than in those with lower daytime BP (55.3 +/- 20.9 versus 45.1 +/- 20.6 mmHg, = 0.046). Subjects with increased WCE have an exaggerated response also to psycho-social stimuli. Average daytime BP, which incorporates the BP reactions to many psycho-social triggers can, thus, not be taken as the basal BP of an individual. This helps explain why DeltaC-D does not reflect the true WCE.

Analysis of HLA in children with gelatin allergy.

PubMed

Sakaguchi, M; Nakayama, T; Kaku, H; Taniguchi, K; Saito, S; Kimura, A; Inouye, S

2002-05-01

Systemic immediate reactions including anaphylaxis to gelatin in vaccines have been reported. However, the number of such reports is very small compared with the number of children exposed to gelatin. The present study was designed to investigate whether susceptibility or resistance to gelatin allergy is associated with human leukocyte antigen (HLA) class II gene. Blood samples were obtained from 49 patients with gelatin allergy and specific IgE to gelatin. DNA-based HLA class II typing was performed to determine the DRB1, DQB1 and DPB1 alleles. Genotype frequencies were compared with those found in 240 unrelated controls. The frequency of DQB1*0303 (55.1%) was significantly higher in the patients than in the control subjects (32.1%). The frequency of DPB1*0402 was also significantly higher in the patients (32.7%) than in the control subjects (15.4%). On the other hand, the frequency of subjects carrying DRB1*15 (DRB1*1501 and DRB1*1502) was significantly lower among the patients group (18.4%) than among the controls (40.8%). We found that DQB1*0303 and DPB1*0402 were positively associated with the IgE response for gelatin, while DRB1*15 was negatively associated with it.

Efficacy of combination treatment with anti-IgE plus specific immunotherapy in polysensitized children and adolescents with seasonal allergic rhinitis.

PubMed

Kuehr, Joachim; Brauburger, Jens; Zielen, Stefan; Schauer, Uwe; Kamin, Wolfgang; Von Berg, Andrea; Leupold, Wolfgang; Bergmann, Karl-Christian; Rolinck-Werninghaus, Claudia; Gräve, Michael; Hultsch, Thomas; Wahn, Ulrich

2002-02-01

Specific immunotherapy (SIT) and treatment with monoclonal anti-IgE antibody have complementary modes of action. The purpose of this study was to determine whether combined therapy could provide better efficacy than either treatment alone. We conducted a randomized, double-blinded trial to assess the efficacy and safety of subcutaneously administered anti-IgE (omalizumab) or placebo in children and adolescents with seasonal allergic rhinitis in both a birch pollen season and a grass pollen season (sequential seasons together lasting an average of 84 days). There were 4 treatment arms. Each subject was started on SIT-birch or SIT-grass, and anti-IgE or placebo was started before and maintained during the anticipated pollen seasons (a total of 24 weeks). The primary efficacy variable was symptom load, the sum of daily symptom severity score plus rescue medication use. A total of 221 subjects (intent-to-treat population) aged 6 to 17 years were analyzed for efficacy. Combination therapy reduced symptom load over the 2 pollen seasons by 48% (P <.001) over SIT alone. When analyzed separately by season, the 2 groups receiving unrelated SIT were considered placebo controls. In the grass season, symptom loads were as follows: unrelated (birch) SIT + placebo, 0.89 (reference value); unrelated (birch) SIT + anti-IgE, 0.49 (-45%); SIT-grass + placebo, 0.61 (-32%); SIT-grass + anti-IgE, 0.26 (-71%). Anti-IgE therapy conferred a protective effect independent of the type of allergen. Additional clinical benefit was demonstrated in both pollen seasons, whether there was coverage by SIT or not. This combination might prove useful for the treatment of allergic rhinitis, particularly for polysensitized patients.

Saying "no" to temptation: Want-to motivation improves self-regulation by reducing temptation rather than by increasing self-control.

PubMed

Milyavskaya, Marina; Inzlicht, Michael; Hope, Nora; Koestner, Richard

2015-10-01

Self-regulation has been conceptualized as the interplay between controlled and impulsive processes; however, most research has focused on the controlled side (i.e., effortful self-control). The present studies focus on the effects of motivation on impulsive processes, including automatic preferences for goal-disruptive stimuli and subjective reports of temptations and obstacles, contrasting them with effects on controlled processes. This is done by examining people's implicit affective reactions in the face of goal-disruptive "temptations" (Studies 1 and 2), subjective reports of obstacles (Studies 2 and 3) and expended effort (Study 3), as well as experiences of desires and self-control in real-time using experience sampling (Study 4). Across these multiple methods, results show that want-to motivation results in decreased impulsive attraction to goal-disruptive temptations and is related to encountering fewer obstacles in the process of goal pursuit. This, in turn, explains why want-to goals are more likely to be attained. Have-to motivation, on the other hand, was unrelated to people's automatic reactions to temptation cues but related to greater subjective perceptions of obstacles and tempting desires. The discussion focuses on the implications of these findings for self-regulation and motivation. (c) 2015 APA, all rights reserved).

Monitoring memory errors: the influence of the veracity of retrieved information on the accuracy of judgements of learning.

PubMed

Rhodes, Matthew G; Tauber, Sarah K

2011-11-01

The current study examined the degree to which predictions of memory performance made immediately or at a delay are sensitive to confidently held memory illusions. Participants studied unrelated pairs of words and made judgements of learning (JOLs) for each item, either immediately or after a delay. Half of the unrelated pairs (deceptive items; e.g., nurse-dollar) had a semantically related competitor (e.g., doctor) that was easily accessible when given a test cue (e.g., nurse-do_ _ _r) and half had no semantically related competitor (control items; e.g., subject-dollar). Following the study phase, participants were administered a cued recall test. Results from Experiment 1 showed that memory performance was less accurate for deceptive compared with control items. In addition, delaying judgement improved the relative accuracy of JOLs for control items but not for deceptive items. Subsequent experiments explored the degree to which the relative accuracy of delayed JOLs for deceptive items improved as a result of a warning to ensure that retrieved memories were accurate (Experiment 2) and corrective feedback regarding the veracity of information retrieved prior to making a JOL (Experiment 3). In all, these data suggest that delayed JOLs may be largely insensitive to memory errors unless participants are provided with feedback regarding memory accuracy.

Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol

PubMed Central

Dastani, Zari; Ruel, Isabelle L; Engert, James C; Genest, Jacques; Marcil, Michel

2007-01-01

Background Niemann-Pick disease type A and B is caused by a deficiency of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. In Niemann-Pick patients, SMPD1 gene defects are reported to be associated with a severe reduction in plasma high-density lipoprotein (HDL) cholesterol. Methods Two common coding polymorphisms in the SMPD1 gene, the G1522A (G508R) and a hexanucleotide repeat sequence within the signal peptide region, were investigated in 118 unrelated subjects of French Canadian descent with low plasma levels of HDL-cholesterol (< 5th percentile for age and gender-matched subjects). Control subjects (n = 230) had an HDL-cholesterol level > the 25th percentile. Results For G1522A the frequency of the G and A alleles were 75.2% and 24.8% respectively in controls, compared to 78.6% and 21.4% in subjects with low HDL-cholesterol (p = 0.317). The frequency of 6 and 7 hexanucleotide repeats was 46.2% and 46.6% respectively in controls, compared to 45.6% and 49.1% in subjects with low HDL-cholesterol (p = 0.619). Ten different haplotypes were observed in cases and controls. Overall haplotype frequencies in cases and controls were not significantly different. Conclusion These results suggest that the two common coding variants at the SMPD1 gene locus are not associated with low HDL-cholesterol levels in the French Canadian population. PMID:18088425

H1-MAPT and the Risk for Familial Essential Tremor

PubMed Central

García-Martín, Elena; Martínez, Carmen; Alonso-Navarro, Hortensia; Benito-León, Julián; Lorenzo-Betancor, Oswaldo; Pastor, Pau; López-Alburquerque, Tomás; Samaranch, Lluis; Lorenzo, Elena; Agúndez, José A. G.; Jiménez-Jiménez, Félix Javier

2012-01-01

The most frequent MAPT H1 haplotype is associated with the risk for developing progressive supranuclear palsy and other neurodegenerative diseases such as Parkinson’s disease. A recent report suggests that the MAPT H1 is associated with the risk for developing essential tremor. We wanted to confirm this association in a different population. We analyzed the distribution of allelic and genotype frequencies of rs1052553, which is an H1/H2 SNP, in 200 subjects with familial ET and 291 healthy controls. rs1052553 genotype and allelic frequencies did not differ significantly between subjects with ET and controls and were unrelated with the age at onset of tremor or gender, and with the presence of head, voice, chin, and tongue tremor. Our study suggests that the MAPT H1 rs1052553 is not associated with the risk for developing familial ET in the Spanish population. PMID:22911817

[Identification of novel compound heterozygous mutations of USH2A gene in a family with Usher syndrome type II].

PubMed

Jiang, Haiou; Ge, Chuanqin; Wang, Yiwang; Tang, Genyun; Quan, Qingli

2015-06-01

To identify potential mutations in a Chinese family with Usher syndrome type II. Genomic DNA was obtained from two affected and four unaffected members of the family and subjected to amplification of the entire coding sequence and splicing sites of USH2A gene. Mutation detection was conducted by direct sequencing of the PCR products. A total of 100 normal unrelated individuals were used as controls. The patients were identified to be a compound heterozygote for two mutations: c.8272G>T (p.E2758X) in exon 42 from his mother and c.12376-12378ACT>TAA(p.T4126X) in exon 63 of the USH2A gene from his father. Both mutations were not found in either of the two unaffected family members or 100 unrelated controls, and had completely co-segregated with the disease phenotype in the family. Neither mutation has been reported in the HGMD database. The novel compound heterozygous mutations c.8272G>T and c.12376-12378ACT>TAA within the USH2A gene may be responsible for the disease. This result may provide new clues for molecular diagnosis of this disease.

Using ancestry matching to combine family-based and unrelated samples for genome-wide association studies‡

PubMed Central

Crossett, Andrew; Kent, Brian P.; Klei, Lambertus; Ringquist, Steven; Trucco, Massimo; Roeder, Kathryn; Devlin, Bernie

2015-01-01

We propose a method to analyze family-based samples together with unrelated cases and controls. The method builds on the idea of matched case–control analysis using conditional logistic regression (CLR). For each trio within the family, a case (the proband) and matched pseudo-controls are constructed, based upon the transmitted and untransmitted alleles. Unrelated controls, matched by genetic ancestry, supplement the sample of pseudo-controls; likewise unrelated cases are also paired with genetically matched controls. Within each matched stratum, the case genotype is contrasted with control pseudo-control genotypes via CLR, using a method we call matched-CLR (mCLR). Eigenanalysis of numerous SNP genotypes provides a tool for mapping genetic ancestry. The result of such an analysis can be thought of as a multidimensional map, or eigenmap, in which the relative genetic similarities and differences amongst individuals is encoded in the map. Once constructed, new individuals can be projected onto the ancestry map based on their genotypes. Successful differentiation of individuals of distinct ancestry depends on having a diverse, yet representative sample from which to construct the ancestry map. Once samples are well-matched, mCLR yields comparable power to competing methods while ensuring excellent control over Type I error. PMID:20862653

Calcium, why and how much?

PubMed

Palmieri, G M

1995-01-01

Although calcium (Ca) is pivotal for the prevention of osteoporosis, its role in the prevention of other unrelated diseases such as arterial hypertension, cancer of the colon and nephrolithiasis is perplexing. No unitarian hypothesis explaining these unrelated effects of Ca has been postulated. Cytosolic Ca concentration is 10,000-fold lower than in the extracellular space, and this gradient is tightly maintained. Abnormal elevation of cytosolic Ca causes cell damage and death. Parathyroid hormone is a Ca agonist and the suppression of its secretion by Ca could explain the beneficial role of Ca intake in multiple diseases. Thus, parathyroid ablation improves hypertension in rats and cardiomyopathy in hamsters. Since anthropologic data suggests a higher Ca intake, of approximately 1,600 1,600 mg/day, in preneolithic than in modern diets, it is likely that our levels of PTH on genetically predisposed subjects with a loose cellular Ca control may aggravate frequent modern diseases and the process of aging. A higher Ca intake in both sexes should be one of the goals of preventive medicine of our time.

Query-seeded iterative sequence similarity searching improves selectivity 5–20-fold

PubMed Central

Li, Weizhong; Lopez, Rodrigo

2017-01-01

Abstract Iterative similarity search programs, like psiblast, jackhmmer, and psisearch, are much more sensitive than pairwise similarity search methods like blast and ssearch because they build a position specific scoring model (a PSSM or HMM) that captures the pattern of sequence conservation characteristic to a protein family. But models are subject to contamination; once an unrelated sequence has been added to the model, homologs of the unrelated sequence will also produce high scores, and the model can diverge from the original protein family. Examination of alignment errors during psiblast PSSM contamination suggested a simple strategy for dramatically reducing PSSM contamination. psiblast PSSMs are built from the query-based multiple sequence alignment (MSA) implied by the pairwise alignments between the query model (PSSM, HMM) and the subject sequences in the library. When the original query sequence residues are inserted into gapped positions in the aligned subject sequence, the resulting PSSM rarely produces alignment over-extensions or alignments to unrelated sequences. This simple step, which tends to anchor the PSSM to the original query sequence and slightly increase target percent identity, can reduce the frequency of false-positive alignments more than 20-fold compared with psiblast and jackhmmer, with little loss in search sensitivity. PMID:27923999

Association between β2-adrenoceptor (ADRB2) haplotypes and insulin resistance in PCOS.

PubMed

Tellechea, Mariana L; Muzzio, Damián O; Iglesias Molli, Andrea E; Belli, Susana H; Graffigna, Mabel N; Levalle, Oscar A; Frechtel, Gustavo D; Cerrone, Gloria E

2013-04-01

The aim of this study was to explore β2-adrenoceptor (ADRB2) haplotype associations with phenotypes and quantitative traits related to insulin resistance (IR) and the metabolic syndrome (MS) in a polycystic ovary syndrome (PCOS) population. A secondary purpose was to assess the association between ADRB2 haplotype and PCOS. Genetic polymorphism analysis. Cross-sectional case-control association study. Medical University Hospital and research laboratory. One hundred and sixty-five unrelated women with PCOS and 116 unrelated women without PCOS (control sample). Clinical and biochemical measurements, and ADRB2 genotyping in PCOS patients and control subjects. ADRB2 haplotypes (comprising rs1042711, rs1801704, rs1042713 and rs1042714 in that order), genotyping and statistical analysis to evaluate associations with continuous variables and traits related to IR and MS in a PCOS population. Associations between ADRB2 haplotypes and PCOS were also assessed. We observed an age-adjusted association between ADRB2 haplotype CCGG and lower insulin (P = 0·018) and HOMA (P = 0·008) in the PCOS sample. Interestingly, the expected differences in surrogate measures of IR between cases and controls were not significant in CCGG/CCGG carriers. In the case-control study, genotype CCGG/CCGG was associated with a 14% decrease in PCOS risk (P = 0·043), taking into account confounding variables. Haplotype I (CCGG) has a protective role for IR and MS in PCOS. © 2012 Blackwell Publishing Ltd.

Apolipoprotein E polymorphisms in Japanese patients with polypoidal choroidal vasculopathy and exudative age-related macular degeneration.

PubMed

Gotoh, Norimoto; Kuroiwa, Sachiko; Kikuchi, Takanobu; Arai, Jun; Arai, Satoko; Yoshida, Noriko; Yoshimura, Nagahisa

2004-10-01

To study the genotypes, allelic frequencies, and polymorphisms of apolipoprotein E (Apo E) in unrelated Japanese patients with polypoidal choroidal vasculopathy (PCV) or exudative age-related macular degeneration (AMD) and control subjects without macular degeneration. Cross-sectional study. Blood samples from 225 subjects older than 50 years were used. The 225 subjects included 58 patients with PCV, 85 with AMD, and 82 without macular degeneration. Coding exons of the Apo E gene were amplified by polymerase chain reaction, and the DNA sequences were determined by direct sequencing with an automated sequencer. Apo E epsilon3/epsilon3 was the most frequent genotype with a prevalence of 79.3% in PCV patients, 76.5% in AMD patients, and 67.1% in the control subjects. However, the differences in the percentages were not statistically significant among the three groups. The most frequently found allele in the three groups was epsilon3. Patients with PCV and AMD were less likely to have epsilon2 and epsilon4 than the control subjects, but the differences were not statistically significant. Five minor Apo E single nucleotide polymorphisms, including epsilon5 and epsilon7, were found. Japanese patients with PCV and AMD were less likely to have epsilon2 and epsilon4 polymorphisms, but the differences from the normals were not statistically significant for the Apo E genotypes and allelic frequencies.

Compared to controls, patients with ruptured aneurysm and surgical intervention show increase in symptoms of depression and lower cognitive performance, but their objective sleep is not affected.

PubMed

Brand, Serge; Zimmerer, Stefan; Kalak, Nadeem; Planta, Sandra Von; Schwenzer-Zimmerer, Katja; Müller, Andreas Albert; Zeilhofer, Hans-Florian; Holsboer-Trachsler, Edith

2015-02-01

Patients with aneurysmal subarachnoid haemorrhage (aSAH) have impaired sleep and cognitive performance together with more difficulties in social and everyday life. Hypocortisolism has also been reported. However, a study assessing all dimensions between aSAH severity, objective and subjective sleep, cortisol secretion, cognitive performance and social and everyday life has not so far been performed. The aim of the present study was therefore two-fold: (1) to assess, in a sample of patients with aSAH, objective and subjective sleep, cognitive functioning, social skills and cortisol secretion concurrently, and (2) to compare patients on these variables with a control group. Twenty-one patients (17 females; mean age: 58.80 years) with ruptured aneurysm and surgical intervention and 21 (14 females; mean age: 58.90 years) age- and gender-matched controls took part in the study. Assessments covered objective sleep-EGG recordings, subjective sleep, salivary cortisol analysis, and psychological functioning including memory performance, mood, and emotion recognition. Compared to healthy controls, patients had lower scores for verbal memory performance and emotion recognition; they also reported more marked depressive symptoms and complained of poor sleep. However, no differences were found for objective sleep or cortisol secretion. Subjective and objective sleep, cortisol secretion and psychological functioning were unrelated. Findings indicate that patients with aSAH face psychological rather than physiological issues.

Pre-marital genetic counselling to consanguineous couples: attitudes, beliefs and decisions among counselled, noncounselled and unrelated couples in Israel.

PubMed

Shiloh, S; Reznik, H; Bat-Miriam-Katznelson, M; Goldman, B

1995-11-01

Semi-structured interviews were conducted with 65 Israeli subjects who received genetic counselling while considering marriage to a close relative, 40 subjects married to a close relative who did not receive pre-marital genetic counselling, and 125 controls married to a nonrelative and never having considered marrying a relative. It was found that 72% of the consanguineous couples who received pre-marital genetic counselling proceeded with their plans and married their relative; 86% of them reported that the counselling influenced their final decision to some degree. Counsellees' appraisals of genetic counselling revealed unfulfilled expectations to obtain more definitive answers, and mixed reactions to the nondirective approach applied by the counsellors. Comparisons between consanguineous and control couples revealed different views about consanguinity in general, and genetic risks in particular. Consanguineous couples, unlike controls, perceived consanguinity as an ordinary form of marriage, and had more favorable attitudes towards it. Compared to the noncounselled consanguineous group, consanguineous couples who received pre-marital genetic counselling had fewer children, estimated their genetic risk as lower but its subjective significance as higher, and perceived genetic disorders as more severe. The implications of these results are discussed from both theoretical and practical standpoints.

Acute aerobic exercise hastens emotional recovery from a subsequent stressor.

PubMed

Bernstein, Emily E; McNally, Richard J

2017-06-01

Despite findings that regular exercise is broadly associated with emotional well-being, more basic research is needed to deepen our understanding of the exercise and emotion connection. This paper examines how acute aerobic exercise in particular influences subjective emotional recovery from a subsequent stressor. Potential mediators and moderators, including level of physical fitness, attentional control, and perseverative negative thinking were explored. All of the participants (n = 95) completed 3 laboratory visits, each including 1 of 3 activities (i.e., cycling, resting, stretching), tests of working memory and attentional control, and an experimental stressor. Self-reported rumination after the stressor and the experience of positive and negative emotions throughout the study were recorded. In this within-subjects paradigm, as expected, higher rumination in response to the stressor predicted more persistent negative emotion afterward; this effect was attenuated only by prior acute aerobic exercise, in this case, cycling, both 5 min and 15 min poststressor. This effect was unrelated to physical fitness or cognitive performance. Physical fitness level did predict greater attentional control and the capacity to update working memory. Acute aerobic exercise may facilitate subjective emotional recovery from a subsequent stressor and improve emotional flexibility. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Cannabidiol for the Prevention of Graft-versus-Host-Disease after Allogeneic Hematopoietic Cell Transplantation: Results of a Phase II Study.

PubMed

Yeshurun, Moshe; Shpilberg, Ofer; Herscovici, Corina; Shargian, Liat; Dreyer, Juliet; Peck, Anat; Israeli, Moshe; Levy-Assaraf, Maly; Gruenewald, Tsipora; Mechoulam, Raphael; Raanani, Pia; Ram, Ron

2015-10-01

Graft-versus-host-disease (GVHD) is a major obstacle to successful allogeneic hematopoietic cell transplantation (alloHCT). Cannabidiol (CBD), a nonpsychotropic ingredient of Cannabis sativa, possesses potent anti-inflammatory and immunosuppressive properties. We hypothesized that CBD may decrease GVHD incidence and severity after alloHCT. We conducted a phase II study. GVHD prophylaxis consisted of cyclosporine and a short course of methotrexate. Patients transplanted from an unrelated donor were given low-dose anti-T cell globulin. CBD 300 mg/day was given orally starting 7 days before transplantation until day 30. Forty-eight consecutive adult patients undergoing alloHCT were enrolled. Thirty-eight patients (79%) had acute leukemia or myelodysplastic syndrome and 35 patients (73%) were given myeloablative conditioning. The donor was either an HLA-identical sibling (n = 28), a 10/10 matched unrelated donor (n = 16), or a 1-antigen-mismatched unrelated donor (n = 4). The median follow-up was 16 months (range, 7 to 23). No grades 3 to 4 toxicities were attributed to CBD. None of the patients developed acute GVHD while consuming CBD. In an intention-to-treat analysis, we found that the cumulative incidence rates of grades II to IV and grades III to IV acute GVHD by day 100 were 12.1% and 5%, respectively. Compared with 101 historical control subjects given standard GVHD prophylaxis, the hazard ratio of developing grades II to IV acute GVHD among subjects treated with CBD plus standard GVHD prophylaxis was .3 (P = .0002). Rates of nonrelapse mortality at 100 days and at 1 year after transplantation were 8.6% and 13.4%, respectively. Among patients surviving more than 100 days, the cumulative incidences of moderate-to-severe chronic GVHD at 12 and 18 months were 20% and 33%, respectively. The combination of CBD with standard GVHD prophylaxis is a safe and promising strategy to reduce the incidence of acute GVHD. A randomized double-blind controlled study is warranted. (clinicaltrials.gov: NCT01385124). Copyright © 2015 American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

Electroencephalogram oscillations support the involvement of task-unrelated thoughts in the mechanism of boredom: A pilot study.

PubMed

Miyauchi, Eri; Kawasaki, Masahiro

2018-06-11

Boredom is a universal experience; however, the neural mechanisms underlying the phenomenon remain unclear. Previous research suggests that boredom is related to attentional failure and derives a possible explanation for the cognitive processes of boredom as a product of appraisals made about task-unrelated thoughts. There are little published data regarding proposed processes from neuroscientific perspectives. Therefore, the authors aimed to examine whether cognitive processes of boredom with task-unrelated thoughts followed by appraisals of them can be explained by examining oscillatory correlates. Electroencephalography was used to measure changes in neural oscillatory activity during subjective experiences of boredom or dislike in healthy subjects. Using this approach, temporal information of brain activity particular to the boredom experience was acquired. Additionally, the Adult Attention-Deficit Hyperactivity Disorder Self-Report Scale was used to evaluate the effects of attentional deficits in the neural processing of boredom. Tonic increase in theta and transient increases in alpha activity were exhibited before the key press response for experiencing boredom; however, only tonic increases in theta amplitudes were boredom specific. The results of this pilot study suggest that the boredom experience is possibly associated with cognitive processes involved in task-unrelated thoughts, followed by their appraisals to be bored, mediated by alpha and theta activity. Copyright © 2018 Elsevier B.V. All rights reserved.

Persistence of insulin resistance in polycystic ovarian disease after inhibition of ovarian steroid secretion.

PubMed

Geffner, M E; Kaplan, S A; Bersch, N; Golde, D W; Landaw, E M; Chang, R J

1986-03-01

Six nonobese women with polycystic ovarian disease (PCOD) showed significant hyperinsulinemia, compared with controls after oral glucose (P less than 0.05). As an indicator of insulin sensitivity, in vitro proliferation of erythrocyte progenitor cells of PCOD subjects exposed to physiologic concentrations of insulin was significantly blunted (P less than 0.001). Monocyte insulin receptor binding was not impaired in the PCOD subjects. Three of the PCOD patients were treated with a long-acting gonadotropin-releasing hormone agonist for 6 months, which resulted in marked suppression of ovarian androgen secretion but no demonstrable changes in in vivo or in vitro indicators of insulin resistance. Thus insulin resistance in PCOD subjects appears to be unrelated to ovarian hyperandrogenism (or acanthosis or obesity). Although certain tissues are insulin-resistant in PCOD patients, the ovary may remain sensitive and overproduce androgens in response to high circulating insulin levels.

Loss of RNA expression and allele-specific expression associated with congenital heart disease

PubMed Central

McKean, David M.; Homsy, Jason; Wakimoto, Hiroko; Patel, Neil; Gorham, Joshua; DePalma, Steven R.; Ware, James S.; Zaidi, Samir; Ma, Wenji; Patel, Nihir; Lifton, Richard P.; Chung, Wendy K.; Kim, Richard; Shen, Yufeng; Brueckner, Martina; Goldmuntz, Elizabeth; Sharp, Andrew J.; Seidman, Christine E.; Gelb, Bruce D.; Seidman, J. G.

2016-01-01

Congenital heart disease (CHD), a prevalent birth defect occurring in 1% of newborns, likely results from aberrant expression of cardiac developmental genes. Mutations in a variety of cardiac transcription factors, developmental signalling molecules and molecules that modify chromatin cause at least 20% of disease, but most CHD remains unexplained. We employ RNAseq analyses to assess allele-specific expression (ASE) and biallelic loss-of-expression (LOE) in 172 tissue samples from 144 surgically repaired CHD subjects. Here we show that only 5% of known imprinted genes with paternal allele silencing are monoallelic versus 56% with paternal allele expression—this cardiac-specific phenomenon seems unrelated to CHD. Further, compared with control subjects, CHD subjects have a significant burden of both LOE genes and ASE events associated with altered gene expression. These studies identify FGFBP2, LBH, RBFOX2, SGSM1 and ZBTB16 as candidate CHD genes because of significantly altered transcriptional expression. PMID:27670201

Led into temptation? Rewarding brand logos bias the neural encoding of incidental economic decisions.

PubMed

Murawski, Carsten; Harris, Philip G; Bode, Stefan; Domínguez D, Juan F; Egan, Gary F

2012-01-01

Human decision-making is driven by subjective values assigned to alternative choice options. These valuations are based on reward cues. It is unknown, however, whether complex reward cues, such as brand logos, may bias the neural encoding of subjective value in unrelated decisions. In this functional magnetic resonance imaging (fMRI) study, we subliminally presented brand logos preceding intertemporal choices. We demonstrated that priming biased participants' preferences towards more immediate rewards in the subsequent temporal discounting task. This was associated with modulations of the neural encoding of subjective values of choice options in a network of brain regions, including but not restricted to medial prefrontal cortex. Our findings demonstrate the general susceptibility of the human decision making system to apparently incidental contextual information. We conclude that the brain incorporates seemingly unrelated value information that modifies decision making outside the decision-maker's awareness.

Led into Temptation? Rewarding Brand Logos Bias the Neural Encoding of Incidental Economic Decisions

PubMed Central

Murawski, Carsten; Harris, Philip G.; Bode, Stefan; Domínguez D., Juan F.; Egan, Gary F.

2012-01-01

Human decision-making is driven by subjective values assigned to alternative choice options. These valuations are based on reward cues. It is unknown, however, whether complex reward cues, such as brand logos, may bias the neural encoding of subjective value in unrelated decisions. In this functional magnetic resonance imaging (fMRI) study, we subliminally presented brand logos preceding intertemporal choices. We demonstrated that priming biased participants' preferences towards more immediate rewards in the subsequent temporal discounting task. This was associated with modulations of the neural encoding of subjective values of choice options in a network of brain regions, including but not restricted to medial prefrontal cortex. Our findings demonstrate the general susceptibility of the human decision making system to apparently incidental contextual information. We conclude that the brain incorporates seemingly unrelated value information that modifies decision making outside the decision-maker's awareness. PMID:22479547

Reduced telomere length in subjects with dementia and diabetes mellitus type 2 is independent of apolipoprotein E4 genotype.

PubMed

Kota, Lakshmi Narayanan; Bharath, Srikala; Purushottam, Meera; Paul, Pradip; Sivakumar, Palanimuthu Thangaraju; Varghese, Mathew; Jain, Sanjeev

2014-12-01

Apolipoprotein E4 gene is associated with increased risk of dementia with comorbid diabetes mellitus. Both dementia and diabetes mellitus type 2 are independently associated with telomere shortening. We assessed relative telomere length and apolipoprotein E genotype in subjects with dementia (n=70) and cognitively normal control groups (n=55) with and without comorbid diabetes mellitus type 2. Relative telomere length was highest in the control group (Q2=0.91) followed by dementia (Q2=0.48) and dementia with comorbid diabetes mellitus type 2 (Q2=0.39). Apolipoprotein E4 allele frequency was highest in dementia with comorbid diabetes mellitus type 2 (0.26). Apolipoprotein E4 allele was not significantly associated with telomere attrition in both dementia and cognitively normal group irrespective of comorbid diabetes mellitus type 2 (P>0.05). The findings suggest that relative telomere length is unrelated to apolipoprotein E4 genotype in dementia and cognitive normal subjects with or without comorbid diabetes mellitus type 2. Copyright © 2014 Elsevier B.V. All rights reserved.

Headaches associated with refractive errors: myth or reality?

PubMed

Gil-Gouveia, R; Martins, I P

2002-04-01

Headache and refractive errors are very common conditions in the general population, and those with headache often attribute their pain to a visual problem. The International Headache Society (IHS) criteria for the classification of headache includes an entity of headache associated with refractive errors (HARE), but indicates that its importance is widely overestimated. To compare overall headache frequency and HARE frequency in healthy subjects with uncorrected or miscorrected refractive errors and a control group. We interviewed 105 individuals with uncorrected refractive errors and a control group of 71 subjects (with properly corrected or without refractive errors) regarding their headache history. We compared the occurrence of headache and its diagnosis in both groups and assessed its relation to their habits of visual effort and type of refractive errors. Headache frequency was similar in both subjects and controls. Headache associated with refractive errors was the only headache type significantly more common in subjects with refractive errors than in controls (6.7% versus 0%). It was associated with hyperopia and was unrelated to visual effort or to the severity of visual error. With adequate correction, 72.5% of the subjects with headache and refractive error reported improvement in their headaches, and 38% had complete remission of headache. Regardless of the type of headache present, headache frequency was significantly reduced in these subjects (t = 2.34, P =.02). Headache associated with refractive errors was rarely identified in individuals with refractive errors. In those with chronic headache, proper correction of refractive errors significantly improved headache complaints and did so primarily by decreasing the frequency of headache episodes.

Alterations of the arginine metabolome in asthma.

PubMed

Lara, Abigail; Khatri, Sumita B; Wang, Zeneng; Comhair, Suzy A A; Xu, Weiling; Dweik, Raed A; Bodine, Melanie; Levison, Bruce S; Hammel, Jeffrey; Bleecker, Eugene; Busse, William; Calhoun, William J; Castro, Mario; Chung, Kian Fan; Curran-Everett, Douglas; Gaston, Benjamin; Israel, Elliot; Jarjour, Nizar; Moore, Wendy; Peters, Stephen P; Teague, W Gerald; Wenzel, Sally; Hazen, Stanley L; Erzurum, Serpil C

2008-10-01

As the sole nitrogen donor in nitric oxide (NO) synthesis and key intermediate in the urea cycle, arginine and its metabolic pathways are integrally linked to cellular respiration, metabolism, and inflammation. We hypothesized that arginine (Arg) bioavailability would be associated with airflow abnormalities and inflammation in subjects with asthma, and would be informative for asthma severity. Arg bioavailability was assessed in subjects with severe and nonsevere asthma and healthy control subjects by determination of plasma Arg relative to its metabolic products, ornithine and citrulline, and relative to methylarginine inhibitors of NO synthases, and by serum arginase activity. Inflammatory parameters, including fraction of exhaled NO (Fe(NO)), IgE, skin test positivity to allergens, bronchoalveolar lavage, and blood eosinophils, were also evaluated. Subjects with asthma had greater Arg bioavailability, but also increased Arg catabolism compared with healthy control subjects, as evidenced by higher levels of Fe(NO) and serum arginase activity. However, Arg bioavailability was positively associated with Fe(NO) only in healthy control subjects; Arg bioavailability was unrelated to Fe(NO) or other inflammatory parameters in severe or nonsevere asthma. Inflammatory parameters were related to airflow obstruction and reactivity in nonsevere asthma, but not in severe asthma. Conversely, Arg bioavailability was related to airflow obstruction in severe asthma, but not in nonsevere asthma. Modeling confirmed that measures of Arg bioavailabilty predict airflow obstruction only in severe asthma. Unlike Fe(NO), Arg bioavailability is not a surrogate measure of inflammation; however, Arg bioavailability is strongly associated with airflow abnormalities in severe asthma.

Subjective motives for requesting in-patient treatment in female with anorexia nervosa: a qualitative study.

PubMed

Gorse, Pauline; Nordon, Clementine; Rouillon, Frederic; Pham-Scottez, Alexandra; Revah-Levy, Anne

2013-01-01

Anorexia nervosa is a severe psychiatric disorder mainly affecting women. Its treatment is long and accepted with much difficulty, in particular in-patient treatment. To describe the subjective motives of women with anorexia nervosa for requesting in-patient admission, from a qualitative analysis of application letters. Participants were adult women (18 years and older) with anorexia nervosa who were admitted as in-patients in a referral hospital unit in France from January 2008 to December 2010. The application letters, prerequisites to admission, were studied by the interpretative phenomenological method of content analysis. 63 letters have been analysed, allowing the identification of six themes related to requests for in-patient care: loss of control of behaviour, and of thoughts, mental exhaustion, isolation, inner struggle and fear of recovery. Requests for in-patient admission were motivated by very personal, subjective experiences, unrelated to medical reasons for admission. These results may help improve pre-admission motivational work with individuals, by basing it on their subjective experience.

CYP2R1 mutations causing vitamin D-deficiency rickets.

PubMed

Thacher, Tom D; Levine, Michael A

2017-10-01

CYP2R1 is the principal hepatic 25-hydroxylase responsible for the hydroxylation of parent vitamin D to 25-hydroxyvitamin D [25(OH)D]. Serum concentrations of 25(OH)D reflect vitamin D status, because 25(OH)D is the major circulating metabolite of vitamin D. The 1α-hydroxylation of 25(OH)D in the kidney by CYP27B1 generates the fully active vitamin D metabolite, 1,25-dihydroxyvitamin D (1,25(OH) 2 D). The human CYP2R1 gene, located at 11p15.2, has five exons, coding for an enzyme with 501 amino acids. In Cyp2r1-/- knockout mice, serum 25(OH)D levels were reduced by more than 50% compared wild-type mice. Genetic polymorphisms of CYP2R1 account for some of the individual variability of circulating 25(OH)D values in the population. We review the evidence that inactivating mutations in CYP2R1 can lead to a novel form of vitamin D-deficiency rickets resulting from impaired 25-hydroxylation of vitamin D. We sequenced the promoter, exons and intron-exon flanking regions of the CYP2R1 gene in members of 12 Nigerian families with rickets in more than one family member. We found missense mutations (L99P and K242N) in affected members of 2 of 12 families. The L99P mutation had previously been reported as a homozygous defect in an unrelated child of Nigerian origin with rickets. In silico analyses predicted impaired CYP2R1 folding or reduced interaction with substrate vitamin D by L99P and K242N mutations, respectively. In vitro studies of the mutant CYP2R1 proteins in HEK293 cells confirmed normal expression levels but completely absent or markedly reduced 25-hydroxylase activity by the L99P and K242N mutations, respectively. Heterozygous subjects had more moderate biochemical and clinical features of vitamin D deficiency than homozygous subjects. After an oral bolus dose of 50,000 IU of vitamin D 2 or vitamin D 3 , heterozygous subjects had lower increases in serum 25(OH)D than control subjects, and homozygous subjects had minimal increases, supporting a semidominant inheritance of these mutations. No CYP2R1 mutations were found in 27 Nigerian children with sporadic rickets, a cohort of 50 unrelated Nigerian subjects, or in 628 unrelated subjects in the 1000 Genomes Project. We conclude that mutations in CYP2R1 are responsible for an atypical form of vitamin D-deficiency rickets, which has been classified as vitamin D dependent rickets type 1B (VDDR1B, MIM 600081). Copyright © 2016 Elsevier Ltd. All rights reserved.

Association of keratin 8/18 variants with non-alcoholic fatty liver disease and insulin resistance in Chinese patients: A case-control study.

PubMed

Li, Rui; Liao, Xian-Hua; Ye, Jun-Zhao; Li, Min-Rui; Wu, Yan-Qin; Hu, Xuan; Zhong, Bi-Hui

2017-06-14

To test the hypothesis that K8/K18 variants predispose humans to non-alcoholic fatty liver disease (NAFLD) progression and its metabolic phenotypes. We selected a total of 373 unrelated adult subjects from our Physical Examination Department, including 200 unrelated NAFLD patients and 173 controls of both genders and different ages. Diagnoses of NAFLD were established according to ultrasonic signs of fatty liver. All subjects were tested for population characteristics, lipid profile, liver tests, as well as glucose tests. Genomic DNA was obtained from peripheral blood with a DNeasy Tissue Kit. K8/K18 coding regions were analyzed, including 15 exons and exon-intron boundaries. Among 200 NAFLD patients, 10 (5%) heterozygous carriers of keratin variants were identified. There were 5 amino-acid-altering heterozygous variants and 6 non-coding heterozygous variants. One novel amino-acid-altering heterozygous variant (K18 N193S) and three novel non-coding variants were observed (K8 IVS5-9A→G, K8 IVS6+19G→A, K18 T195T). A total of 9 patients had a single variant and 1 patient had compound variants (K18 N193S+K8 IVS3-15C→G). Only one R341H variant was found in the control group (1 of 173, 0.58%). The frequency of keratin variants in NAFLD patients was significantly higher than that in the control group (5% vs 0.58%, P = 0.015). Notably, the keratin variants were significantly associated with insulin resistance (IR) in NAFLD patients (8.86% in NAFLD patients with IR vs 2.5% in NAFLD patients without IR, P = 0.043). K8/K18 variants are overrepresented in Chinese NAFLD patients and might accelerate liver fat storage through IR.

Increased cortical area and thickness in the distal radius in subjects with SHOX-gene mutation.

PubMed

Frederiksen, A L; Hansen, S; Brixen, K; Frost, M

2014-12-01

Short-stature homeobox (SHOX) gene haploinsufficiency may cause skeletal dysplasia including Léri-Weill Dyschondrosteosis (LWD), a clinical entity characterised by the triad of low height, mesomelic disproportion and Madelung's deformity of the wrist. Bone microarchitecture and estimated strength in adult SHOX mutation carriers have not been examined. Twenty-two subjects with a SHOX mutation including 7 males and 15 females with a median age of 38.8 [21.1-52.2] years were recruited from five unrelated families. The control group consisted of 22 healthy subjects matched on age and sex. Bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry. Bone geometry, volumetric density, microarchitecture and finite element estimated (FEA) bone strength were measured using high-resolution peripheral quantitative computed tomography (HR-pQCT). A full region of interest (ROI) image analysis and height-matched ROI analyses adjusting for differences in body height between the two groups were performed. Areal BMD and T-scores showed no significant differences between cases and controls. Total radius area was smaller in cases than controls (207 [176-263] vs. 273 [226-298] mm, p<0.01). Radius cortical bone area (74 ± 20 vs. 58 ± 17 mm(2), p=0.01) and thickness (1.16 ± 0.30 vs. 0.84 ± 0.26 mm, p<0.01) as well as total density (428 ± 99 vs. 328 ± 72 mg/cm(3), p<0.01) were higher in SHOX mutation carriers compared to controls. Radius trabecular bone area (119 [103-192] vs. 202 [168-247] mm(2), p<0.01) and trabecular number (1.61 [1.46-2.07] vs. 1.89 [1.73-2.08] mm(-1), p=0.01) were smaller in SHOX mutation carriers. Tibia trabecular thickness was lower in cases (0.067 ± 0.012 vs. 0.076 ± 0.012 mm, p=0.01). These results remained significant after adjustment for differences in body height and when restricting analyses to females. There were no differences in BMD, radius and tibia cortical porosity or FEA failure load between groups. A segment of cortical bone defect was identified in the distal radius adjacent to ulna in five unrelated SHOX mutation carriers. Subjects with a SHOX mutation presented with a different bone geometry in radius and tibia while there were no differences in BMD or failure load compared to controls, suggesting that mutations in SHOX gene may have an impact on bone microarchitecture albeit not bone strength. Copyright © 2014 Elsevier Inc. All rights reserved.

Effect of parental family history of Alzheimer's disease on serial position profiles.

PubMed

La Rue, Asenath; Hermann, Bruce; Jones, Jana E; Johnson, Sterling; Asthana, Sanjay; Sager, Mark A

2008-07-01

An exaggerated recency effect (ie, disproportionate recall of last-presented items) has been consistently observed in the word list learning of patients with Alzheimer's disease (AD). Our study sought to determine whether there were similar alterations in serial position learning among asymptomatic persons at risk for AD as a result of parental family history. Subjects included 623 asymptomatic middle-aged children of patients with AD (median, 53 years) and 157 control participants whose parents survived to at least age 70 without AD or other memory disorders. All participants were administered the Rey Auditory Verbal Learning Test, which requires learning and recall of 15 unrelated nouns. There was no significant difference in total words recalled between the AD children and control groups. However, compared with controls, AD children exhibited a significantly greater tendency to recall words from the end (recency) versus beginning (primacy) of the list. Serial position effects were unrelated to apolipoprotein allele epsilon 4 or depressive symptoms. Asymptomatic persons at risk for AD by virtue of family history do not show a difference in total words recalled compared with controls, but they exhibit a distinctly different serial position curve, suggesting greater reliance on immediate as opposed to episodic memory. This is the same serial position pattern observed in mild AD, seen here in reduced severity. Longitudinal follow-up is planned to determine whether changes in serial position patterns are a meaningful marker for preclinical detection of AD.

Impaired inhibition and working memory in response to internet-related words among adolescents with internet addiction: A comparison with attention-deficit/hyperactivity disorder.

PubMed

Nie, Jia; Zhang, Wei; Chen, Jia; Li, Wendi

2016-02-28

Impairments in response inhibition and working memory functions have been found to be closely associated with internet addiction (IA) symptoms and attention-deficit/hyperactivity disorder (ADHD) symptoms. In this study, we examined response inhibition and working memory processes with two different materials (internet-related and internet-unrelated stimuli) among adolescents with IA, ADHD and co-morbid IA/ADHD. Twenty-four individuals with IA, 28 individuals with ADHD, 17 individuals with IA/ADHD, and 26 matched normal controls (NC) individuals were recruited. All participants were measured with a Stop-Signal Task and 2-Back Task under the same experimental conditions. In comparison to the NC group, subjects with IA, ADHD and IA/ADHD demonstrated impaired inhibition and working memory. In addition, in comparison to internet-unrelated conditions, IA and co-morbid subjects performed worse on the internet-related condition in the Stop trials during the stop-signal task, and they showed better working memory on the internet-related condition in the 2-Back Task. The findings of our study suggest individuals with IA and IA/ADHD may be impaired in inhibition and working memory functions that might be linked to poor inhibition specifically related to internet-related stimuli, which will advance our understanding of IA and contribute to prevention and intervention strategies. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Memory Impairment in Multiple Sclerosis is Due to a Core Deficit in Initial Learning

PubMed Central

DeLuca, John; Leavitt, Victoria M.; Chiaravalloti, Nancy; Wylie, Glenn

2013-01-01

Persons with multiple sclerosis (MS) suffer memory impairment, but research on the nature of MS-related memory problems is mixed. Some have argued for a core deficit in retrieval, while others have identified deficient initial learning as the core deficit. We used a selective reminding paradigm to determine whether deficient initial learning or delayed retrieval represents the primary memory deficit in 44 persons with MS. Brain atrophy was measured from high-resolution MRIs. Regression analyses examined the impact of brain atrophy on (a) initial learning and delayed retrieval separately, and then (b) delayed retrieval controlling for initial learning. Brain atrophy was negatively associated with both initial learning and delayed retrieval (ps < .01), but brain atrophy was unrelated to retrieval when controlling for initial learning (p > .05). In addition, brain atrophy was associated with inefficient learning across initial acquisition trials, and brain atrophy was unrelated to delayed recall among MS subjects who successfully acquired the word list (although such learning frequently required many exposures). Taken together, memory deficits in MS are a result of deficits in initial learning; moreover, initial learning mediates the relationship between brain atrophy and subsequent retrieval, thereby supporting the core learning-deficit hypothesis of memory impairment in MS. PMID:23832311

Whorl Patterns on the Lower Lip are Associated with Nonsyndromic Cleft Lip with or without Cleft Palate

PubMed Central

Neiswanger, Katherine; Chirigos, Kevin W.; Klotz, Cherise M.; Cooper, Margaret E.; Bardi, Kathleen M.; Brandon, Carla A.; Weinberg, Seth M.; Vieira, Alexandre R.; Martin, Rick A.; Czeizel, Andrew E.; Castilla, Eduardo E.; Poletta, Fernando A.; Marazita, Mary L.

2009-01-01

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect due to both genetic and environmental factors. Whorl lip print patterns are circular grooves on the central upper lip and/or the left and right lower lip. To determine if whorls are more common in families with CL/P than in controls, the Pittsburgh Orofacial Cleft Study collected lip prints from over 450 subjects, i.e., individuals with CL/P, their relatives, and unrelated controls—from the U.S., Argentina, and Hungary. Using a narrow definition of lower-lip whorl, the frequency of whorls in the U.S sample was significantly elevated in cleft individuals and their family members, compared to unrelated controls (14.8% and 13.2% versus 2.3%; P = 0.003 and 0.001, respectively). Whorls were more frequent in CL/P families from Argentina than in CL/P families from the U.S. or Hungary. If these results are confirmed, whorl lip print patterns could be part of an expanded phenotypic spectrum of nonsyndromic CL/P. As such, they may eventually be useful in a clinical setting, allowing recurrence risk calculations to incorporate individual phenotypic information in addition to family history data. PMID:19921634

MAP3K1 May be a Promising Susceptibility Gene for Type 2 Diabetes Mellitus in an Iranian Population

PubMed Central

Torkamandi, Shahram; Bastami, Milad; Ghaedi, Hamid; Moghadam, Fateme; Mirfakhraie, Reza; Omrani, Mir Davood

2016-01-01

Considering that MAPK (mitogen- activated protein kinase) signaling pathway has an important role in the progression of inflammatory cytokine secretion in type 2 diabetes mellitus (T2DM), we have recently investigated the reported genetic polymorphism from genome wide association study in MAP3K1 (mitogen-activated protein kinase kinase kinase 1) in diabetes as an important member of MAPK signaling. This study aimed to investigate the possible association of rs10461617 at the upstream of MAP3K1 gene in an Iranian case-control study with the risk of T2DM. The study population was comprised of 342 unrelated Iranian individuals including 177 patients with T2DM and 165 unrelated healthy control subjects. Genotyping was performed using PCR-RFLP and confirmed with sequencing. In a logistic regression analysis, the rs10461617A allele was associated with a significantly higher risk of T2DM assuming the log- additive model (OR: 1.44, 95% CI: 1.01-2.05, P = 0.039). In conclusion, we provided the first evidence for the association of rs10461617 at the upstream of MAP3K1 with the risk of T2DM in an Iranian population. PMID:27942499

Cognitive switching processes in young people with attention-deficit/hyperactivity disorder.

PubMed

Oades, Robert D; Christiansen, Hanna

2008-01-01

Patients with attention-deficit/hyperactivity disorder (ADHD) can be slow at switching between stimuli, or between sets of stimuli to control behaviour appropriate to changing situations. We examined clinical and experimental parameters that may influence the speed of such processes measured in the trail-making (TMT) and switch-tasks in cases with ADHD combined type, their non-affected siblings and unrelated healthy controls. The latency for completion of the trail-making task controlling for psychomotor processing (TMT-B-A) was longer for ADHD cases, and correlated with Conners' ratings of symptom severity across all subjects. The effect decreased with age. Switch-task responses to questions of "Which number?" and "How many?" between sets of 1/111 or 3/333 elicited differential increases in latency with condition that affected all groups. But there was evidence for increased symptom-related intra-individual variability among the ADHD cases, and across all subjects. Young siblings showed familiality for some measures of TMT and switch-task performance but these were modest. The potential influences of moderator variables on the efficiency of processing stimulus change rather than the speed of processing are discussed.

Learning, awareness, and instruction: subjective contingency awareness does matter in the colour-word contingency learning paradigm.

PubMed

Schmidt, James R; De Houwer, Jan

2012-12-01

In three experiments, each of a set colour-unrelated distracting words was presented most often in a particular target print colour (e.g., "month" most often in red). In Experiment 1, half of the participants were told the word-colour contingencies in advance (instructed) and half were not (control). The instructed group showed a larger learning effect. This instruction effect was fully explained by increases in subjective awareness with instruction. In Experiment 2, contingency instructions were again given, but no contingencies were actually present. Although many participants claimed to be aware of these (non-existent) contingencies, they did not produce an instructed contingency effect. In Experiment 3, half of the participants were given contingency instructions that did not correspond to the correct contingencies. Participants with these false instructions learned the actual contingencies worse than controls. Collectively, our results suggest that conscious contingency knowledge might play a moderating role in the strength of implicit learning. Copyright © 2012 Elsevier Inc. All rights reserved.

The Inhibitory Mechanism in Learning Ambiguous Words in a Second Language

PubMed Central

Lu, Yao; Wu, Junjie; Dunlap, Susan; Chen, Baoguo

2017-01-01

Ambiguous words are hard to learn, yet little is known about what causes this difficulty. The current study aimed to investigate the relationship between the representations of new and prior meanings of ambiguous words in second language (L2) learning, and to explore the function of inhibitory control on L2 ambiguous word learning at the initial stage of learning. During a 4-day learning phase, Chinese–English bilinguals learned 30 novel English words for 30 min per day using bilingual flashcards. Half of the words to be learned were unambiguous (had one meaning) and half were ambiguous (had two semantically unrelated meanings learned in sequence). Inhibitory control was introduced as a subject variable measured by a Stroop task. The semantic representations established for the studied items were probed using a cross-language semantic relatedness judgment task, in which the learned English words served as the prime, and the targets were either semantically related or unrelated to the prime. Results showed that response latencies for the second meaning of ambiguous words were slower than for the first meaning and for unambiguous words, and that performance on only the second meaning of ambiguous words was predicted by inhibitory control ability. These results suggest that, at the initial stage of L2 ambiguous word learning, the representation of the second meaning is weak, probably interfered with by the representation of the prior learned meaning. Moreover, inhibitory control may modulate learning of the new meanings, such that individuals with better inhibitory control may more effectively suppress interference from the first meaning, and thus learn the new meaning more quickly. PMID:28496423

The Inhibitory Mechanism in Learning Ambiguous Words in a Second Language.

PubMed

Lu, Yao; Wu, Junjie; Dunlap, Susan; Chen, Baoguo

2017-01-01

Ambiguous words are hard to learn, yet little is known about what causes this difficulty. The current study aimed to investigate the relationship between the representations of new and prior meanings of ambiguous words in second language (L2) learning, and to explore the function of inhibitory control on L2 ambiguous word learning at the initial stage of learning. During a 4-day learning phase, Chinese-English bilinguals learned 30 novel English words for 30 min per day using bilingual flashcards. Half of the words to be learned were unambiguous (had one meaning) and half were ambiguous (had two semantically unrelated meanings learned in sequence). Inhibitory control was introduced as a subject variable measured by a Stroop task. The semantic representations established for the studied items were probed using a cross-language semantic relatedness judgment task, in which the learned English words served as the prime, and the targets were either semantically related or unrelated to the prime. Results showed that response latencies for the second meaning of ambiguous words were slower than for the first meaning and for unambiguous words, and that performance on only the second meaning of ambiguous words was predicted by inhibitory control ability. These results suggest that, at the initial stage of L2 ambiguous word learning, the representation of the second meaning is weak, probably interfered with by the representation of the prior learned meaning. Moreover, inhibitory control may modulate learning of the new meanings, such that individuals with better inhibitory control may more effectively suppress interference from the first meaning, and thus learn the new meaning more quickly.

How Can "Problem Subjects" Be Made Less of a Problem?

ERIC Educational Resources Information Center

Warwick, Philip; Ottewill, Roger

2004-01-01

Many higher education courses, across the whole range of disciplines, include subjects that are somewhat problematic because they appear to be unrelated to other components of the curriculum. Students frequently perceive them as irrelevant and boring. This makes it extremely difficult for lecturers to stimulate interest and results in an…

Attention and Semantic Processing during Speech: An fMRI Study

ERIC Educational Resources Information Center

Rama, Pia; Relander-Syrjanen, Kristiina; Carlson, Synnove; Salonen, Oili; Kujala, Teija

2012-01-01

This fMRI study was conducted to investigate whether language semantics is processed even when attention is not explicitly directed to word meanings. In the "unattended" condition, the subjects performed a visual detection task while hearing semantically related and unrelated word pairs. In the "phoneme" condition, the subjects made phoneme…

Breaking the rules? X-ray examination of hematopoietic stem cell grafts at international airports.

PubMed

Petzer, Andreas L; Speth, Hans-Georg; Hoflehner, Elisabeth; Clausen, Johannes; Nachbaur, David; Gastl, Günther; Gunsilius, Eberhard

2002-06-15

Hematopoietic stem cell grafts from unrelated donors are commonly transported by aircraft. They must not be subjected to x-rays during security checks, which may cause inconvenient discussions between the courier and the airport security staff. We exposed hematopoietic stem cells from mobilized peripheral blood to a widely used x-ray hand-luggage control system. Cell viability as well as growth in vitro of mature progenitor cells (colony-forming cells), primitive progenitor cells (long-term culture-initiating cells), and lymphocytes were not altered even after 10 passages through the hand-luggage control system. Thus, repeated exposure to the low radiation dose of hand-luggage control systems (1.5 +/- 0.6 microSv per exposure) seems to be harmless for hematopoietic stem cells, which should simplify the international transport of stem cell grafts.

The Relationship Between Genetic Variations of the Cholesteryl Ester Transfer Protein Gene and Coronary Artery Disease in Turkish Subjects

PubMed Central

Gundogdu, Fuat; Gurlertop, Yekta; Pirim, Ibrahim; Sevimli, Serdar; Dogan, Hasan; Arslan, Sakir; Aksoy, Hulya; Karakelloglu, Sule; Senocak, Huseyin

2009-01-01

Objective Although the relationship between cholesteryl ester transfer protein (CETP) and cholesterol metabolism has been characterized in recent years, the effect of CETP genetic variants associated with coronary artery disease (CAD) is still unclear. Therefore, we investigated the association between CETP gene polymorphism and levels of lipid in patients with CAD. Materials and Methods We conducted a case-control study that included 194 unrelated subjects who underwent coronary angiography for suspected ischemic heart disease. This group was divided into 96 patients with angiographically documented CAD and 98 subjects (individuals matched for age and gender) without angiographically documented CAD (CAD-free subjects), all of whom were studied to examine the genotypic distribution of the CETP gene polymorphism in CAD. Genotyping was performed via polymerase chain reaction. Results Of the 96 patients with CAD, 38 (40%) were B1B1, 42 (44%) B1B2 and 16 (16%) B2B2, compared with the control subjects, of which 35 (36%) were B1B1, 44 (45%) B1B2 and 19 (19%) B2B2. There were no significant differences between patients with CAD and control subjects in the distribution of the CETP gene polymorphism. Patients with the B1B1 genotype had lower high-density lipoprotein-cholesterol (HDL-C) and higher triglyceride (TG) levels than patients with the B2B2 genotype (p<0.05). In addition, among control subjects HDL-C levels were significantly higher in subjects with the B2B2 genotype than in subjects with the B1B1 genotype (p<0.01). Conclusion Our results suggest that genetic variations of the CTEP gene may be responsible for low HDL-C levels but may not be considered as a risk factor for CAD in the Turkish population. PMID:25610061

Comparison of two techniques of robot-aided upper limb exercise training after stroke.

PubMed

Stein, Joel; Krebs, Hermano Igo; Frontera, Walter R; Fasoli, Susan E; Hughes, Richard; Hogan, Neville

2004-09-01

This study examined whether incorporating progressive resistive training into robot-aided exercise training provides incremental benefits over active-assisted robot-aided exercise for the upper limb after stroke. A total of 47 individuals at least 1 yr poststroke were enrolled in this 6-wk training protocol. Paretic upper limb motor abilities were evaluated using clinical measures and a robot-based assessment to determine eligibility for robot-aided progressive resistive training at study entry. Subjects capable of participating in resistance training were randomized to receive either active-assisted robot-aided exercises or robot-aided progressive resistance training. Subjects who were incapable of participating in resistance training underwent active-assisted robotic therapy and were again screened for eligibility after 3 wks of robotic therapy. Those subjects capable of participating in resistance training at 3 wks were then randomized to receive either robot-aided resistance training or to continue with robot-aided active-assisted training. One subject withdrew due to unrelated medical issues, and data for the remaining 46 subjects were analyzed. Subjects in all groups showed improvement in measures of motor control (mean increase in Fugl-Meyer of 3.3; 95% confidence interval, 2.2-4.4) and maximal force (mean increase in maximal force of 3.5 N, P = 0.027) over the course of robot-aided exercise training. No differences in outcome measures were observed between the resistance training groups and the matched active-assisted training groups. Subjects' ability to perform the robotic task at the time of group assignment predicted the magnitude of the gain in motor control. The incorporation of robot-aided progressive resistance exercises into a program of robot-aided exercise did not favorably or negatively affect the gains in motor control or strength associated with this training, though interpretation of these results is limited by sample size. Individuals with better motor control at baseline experienced greater increases in motor control with robotic training.

Relationship between macular pigment and visual function in subjects with early age-related macular degeneration.

PubMed

Akuffo, Kwadwo Owusu; Nolan, John M; Peto, Tunde; Stack, Jim; Leung, Irene; Corcoran, Laura; Beatty, Stephen

2017-02-01

To investigate the relationship between macular pigment (MP) and visual function in subjects with early age-related macular degeneration (AMD). 121 subjects with early AMD enrolled as part of the Central Retinal Enrichment Supplementation Trial (CREST; ISRCTN13894787) were assessed using a range of psychophysical measures of visual function, including best corrected visual acuity (BCVA), letter contrast sensitivity (CS), mesopic and photopic CS, mesopic and photopic glare disability (GD), photostress recovery time (PRT), reading performance and subjective visual function, using the National Eye Institute Visual Function Questionnaire-25 (NEI VFQ-25). MP was measured using customised heterochromatic flicker photometry. Letter CS, mesopic and photopic CS, photopic GD and mean reading speed were each significantly (p<0.05) associated with MP across a range of retinal eccentricities, and these statistically significant relationships persisted after controlling for age, sex and cataract grade. BCVA, NEI VFQ-25 score, PRT and mesopic GD were unrelated to MP after controlling for age, sex and cataract grade (p>0.05, for all). MP relates positively to many measures of visual function in unsupplemented subjects with early AMD. The CREST trial will investigate whether enrichment of MP influences visual function among those afflicted with this condition. ISRCTN13894787. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Preattentive visual search and perceptual grouping in schizophrenia.

PubMed

Carr, V J; Dewis, S A; Lewin, T J

1998-06-15

To help determine whether patients with schizophrenia show deficits in the stimulus-based aspects of preattentive processing, we undertook a series of experiments within the framework of feature integration theory. Thirty subjects with a DSM-III-R diagnosis of schizophrenia and 30 age-, gender-, and education-matched normal control subjects completed two computerized experimental tasks, a visual search task assessing parallel and serial information processing (Experiment 1) and a task which examined the effects of perceptual grouping on visual search strategies (Experiment 2). We also assessed current symptomatology and its relationship to task performance. While the schizophrenia subjects had longer reaction times in Experiment 1, their overall pattern of performance across both experimental tasks was similar to that of the control subjects, and generally unrelated to current symptomatology. Predictions from feature integration theory about the impact of varying display size (Experiment 1) and number of perceptual groups (Experiment 2) on the detection of feature and conjunction targets were strongly supported. This study revealed no firm evidence that schizophrenia is associated with a preattentive abnormality in visual search using stimuli that differ on the basis of physical characteristics. While subject and task characteristics may partially account for differences between this and previous studies, it is more likely that preattentive processing abnormalities in schizophrenia may occur only under conditions involving selected 'top-down' factors such as context and meaning.

Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.

PubMed

Musada, Ganeswara Rao; Jalali, Subhadra; Hussain, Anjli; Chururu, Anupama Reddy; Gaddam, Pramod Reddy; Chakrabarti, Subhabrata; Kaur, Inderjeet

2016-01-01

Mutations in the Norrie disease pseudoglioma (NDP; Xp11.3) gene have been involved in retinal blood vessel formation and neural differentiation and are implicated in familial exudative vitreoretinopathy (FEVR) cases. However, the role of the gene has not been explored in the Indian context. Thus, this study was designed to understand the involvement of NDP among Indian patients with FEVR. The study cohort comprised 225 subjects, including unrelated patients with FEVR (n = 110) and ethnically matched healthy subjects (n = 115) recruited from a tertiary eye care center in India. The entire coding regions, intron-exon boundaries, along with the 5' and 3' untranslated regions of NDP were screened with resequencing following standard protocols. The spectrum of the observed variants was analyzed in conjunction with data available from other populations. Eight potentially pathogenic mutations (p.His4ArgfsX21, p.Asp23GlufsX9, p.Ile48ValfsX55, p.His50Asp, p.Ser57*, p.Gly113Asp, p.Arg121Gln, and p.Cys126Arg, including five novel ones), were observed in the coding region of the NDP gene in ten unrelated FEVR probands (9%). The novel changes were not observed in the control subjects and were unavailable in the dbSNP, ESP5400, NIEHS95, and ExAC databases. All probands with NDP mutations exhibited classical features of the disease as observed among patients with FEVR worldwide. This is perhaps the first study to demonstrate the involvement of NDP among patients with Indian FEVR that further expands its mutation spectrum. The data generated could have broad implications in genetic counseling, disease management, and early intervention for a better prognosis in FEVR.

Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR

PubMed Central

Musada, Ganeswara Rao; Jalali, Subhadra; Hussain, Anjli; Chururu, Anupama Reddy; Gaddam, Pramod Reddy; Chakrabarti, Subhabrata

2016-01-01

Purpose Mutations in the Norrie disease pseudoglioma (NDP; Xp11.3) gene have been involved in retinal blood vessel formation and neural differentiation and are implicated in familial exudative vitreoretinopathy (FEVR) cases. However, the role of the gene has not been explored in the Indian context. Thus, this study was designed to understand the involvement of NDP among Indian patients with FEVR. Methods The study cohort comprised 225 subjects, including unrelated patients with FEVR (n = 110) and ethnically matched healthy subjects (n = 115) recruited from a tertiary eye care center in India. The entire coding regions, intron–exon boundaries, along with the 5′ and 3′ untranslated regions of NDP were screened with resequencing following standard protocols. The spectrum of the observed variants was analyzed in conjunction with data available from other populations. Results Eight potentially pathogenic mutations (p.His4ArgfsX21, p.Asp23GlufsX9, p.Ile48ValfsX55, p.His50Asp, p.Ser57*, p.Gly113Asp, p.Arg121Gln, and p.Cys126Arg, including five novel ones), were observed in the coding region of the NDP gene in ten unrelated FEVR probands (9%). The novel changes were not observed in the control subjects and were unavailable in the dbSNP, ESP5400, NIEHS95, and ExAC databases. All probands with NDP mutations exhibited classical features of the disease as observed among patients with FEVR worldwide. Conclusions This is perhaps the first study to demonstrate the involvement of NDP among patients with Indian FEVR that further expands its mutation spectrum. The data generated could have broad implications in genetic counseling, disease management, and early intervention for a better prognosis in FEVR. PMID:27217716

Effects of infrasound on vestibular function

NASA Astrophysics Data System (ADS)

Takigawa, H.; Sakamoto, H.; Murata, M.

1991-12-01

The present study was undertaken to elucidate subjective symptoms reported by some individuals exposed to various sounds, including infrasound. Narrow band infrasound of 5 Hz at center frequency and wide octave band audible noise were separately applied at an intensity of 95 dB. Parameters such as involuntary eye movement with the eyes visually fixed, body sway and pulse-wave were investigated. The total amount and power percentage in the low-frequency band of involuntary eye movement was significantly increased upon exposure to infrasound. Furthermore, confusion in postural control at the time of transition from opening to closing of the subject's eyes was inhibited by this exposure. Conversely, pulse-wave height decrement was observed upon exposure to both sounds, although this was smaller in the case of infrasound as compared with that of noise. These findings are taken to indicate that the effects taking place via the two different pathways were mixed in the subjective symptoms, and that functional changes caused by infrasound exposure were unrelated to an emotion stimulated by acoustical sensation.

What's in a sentence? The crucial role of lexical content in sentence production in nonfluent aphasia.

PubMed

Speer, Paula; Wilshire, Carolyn E

2013-01-01

This study investigated the effect of lexical content on sentence production in nonfluent aphasia. Five participants with nonfluent aphasia, four with fluent aphasia, and eight controls were asked to describe pictured events in subject-verb-object sentences. Experiment 1 manipulated speed of lexical retrieval by varying the frequency of sentence nouns. Nonfluent participants' accuracy was consistently higher for sentences commencing with a high- than with a low-frequency subject noun, even when errors on those nouns were themselves excluded. This was not the case for the fluent participants. Experiment 2 manipulated the semantic relationship between subject and object nouns. The nonfluent participants produced sentences less accurately when they contained related than when they contained unrelated lexical items. The fluent participants exhibited the opposite trend. We propose that individuals with nonfluent aphasia are disproportionately reliant on activated conceptual-lexical representations to drive the sentence generation process, an idea we call the content drives structure (COST) hypothesis.

Progesterone, prolactin, and gynaecomastia in men with liver disease.

PubMed Central

Farthing, M J; Green, J R; Edwards, C R; Dawson, A M

1982-01-01

Plasma progesterone was raised in 36 of 50 (72%) men with liver disease compared with 20 healthy male control subjects. Plasma progesterone was significantly higher in men with non-alcoholic cirrhosis with gynaecomastia than those without, but no similar relationship was found in men with alcoholic fatty change and alcoholic cirrhosis. Hyperprolactinaemia was found in 14% of men with liver disease but levels were unrelated to the presence of gynaecomastia. Increased circulating levels of progesterone and prolactin alone do not explain the development of gynaecomastia in patients with liver disease, but progesterone may be an additional factor acting in association with the known disturbances of other sex steroids. PMID:7076004

In adults with Prader-Willi syndrome, elevated ghrelin levels are more consistent with hyperphagia than high PYY and GLP-1 levels.

PubMed

Purtell, Louise; Sze, Lisa; Loughnan, Georgina; Smith, Ellie; Herzog, Herbert; Sainsbury, Amanda; Steinbeck, Katharine; Campbell, Lesley V; Viardot, Alexander

2011-08-01

Prader-Willi syndrome (PWS) is a leading genetic cause of obesity, characterized by hyperphagia, endocrine and developmental disorders. It is suggested that the intense hyperphagia could stem, in part, from impaired gut hormone signaling. Previous studies produced conflicting results, being confounded by differences in body composition between PWS and control subjects. Fasting and postprandial gut hormone responses were investigated in a cross-sectional cohort study including 10 adult PWS, 12 obese subjects matched for percentage body fat and central abdominal fat, and 10 healthy normal weight subjects. PYY[total], PYY[3-36], GLP-1[active] and ghrelin[total] were measured by ELISA or radioimmunoassay. Body composition was assessed by dual energy X-ray absorptiometry. Visual analog scales were used to assess hunger and satiety. In contrast to lean subjects (p<0.05), PWS and obese subjects were similarly insulin resistant and had similar insulin levels. Ghrelin[total] levels were significantly higher in PWS compared to obese subjects before and during the meal (p<0.05). PYY[3-36] meal responses were higher in PWS than in lean subjects (p=0.01), but not significantly different to obese (p=0.08), with an additional non-significant trend in PYY[total] levels. There were no significant differences in self-reported satiety between groups, however PWS subjects reported more hunger throughout (p=0.003), and exhibited a markedly reduced meal-induced suppression of hunger (p=0.01) compared to lean or obese subjects. Compared to adiposity-matched control subjects, hyperphagia in PWS is not related to a lower postprandial GLP-1 or PYY response. Elevated ghrelin levels in PWS are consistent with increased hunger and are unrelated to insulin levels. Copyright © 2011 Elsevier Ltd. All rights reserved.

Autism with intellectual disability related to dynamics of head circumference growth during early infancy.

PubMed

McKeague, Ian W; Brown, Alan S; Bao, Yuanyuan; Hinkka-Yli-Salomäki, Susanna; Huttunen, Jukka; Sourander, Andre

2015-05-01

It is not yet definitively known whether dynamic features of head circumference growth are associated with autism. To address this issue, we carried out a nested matched case-control study using data from national well baby clinics in Finland; autism cases were identified from the Finnish Hospital and Outpatient Discharge Registry. A nonparametric Bayesian method was used to construct growth velocity trajectories between birth and 2 years of age in autism cases and matched control subjects (n = 468 in main analyses, 1:1 matched control subjects). Estimates of odds ratios for autism risk in relation to the growth velocities were obtained using conditional logistic regression. Growth velocity of head circumference at 3 months of age, adjusting for gestational age at birth and maternal age, is significantly associated with autism (p = .014); the finding was observed in subjects with comorbid intellectual disability (ID) (p = .025) but not in those without ID (p = .15). Height growth velocity among subjects with autism and without ID is significantly associated with autism at 6 months (p = .007), and weight growth velocity at 18 months without ID (p = .02) and 24 months without ID (p = .042) and with ID (p = .037). Acceleration in head circumference growth is associated with autism with comorbid ID at 3 months but not subsequently. This association is unrelated to acceleration in height and weight, which are not strongly associated with autism until after 6 months. Copyright © 2015 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Peripheral Vasoconstriction and Abnormal Parasympathetic Response to Sighs and Transient Hypoxia in Sickle Cell Disease

PubMed Central

Sangkatumvong, Suvimol; Khoo, Michael C. K.; Kato, Roberta; Detterich, Jon A.; Bush, Adam; Keens, Thomas G.; Meiselman, Herbert J.; Wood, John C.

2011-01-01

Rationale: Sickle cell disease is an inherited blood disorder characterized by vasoocclusive crises. Although hypoxia and pulmonary disease are known risk factors for these crises, the mechanisms that initiate vasoocclusive events are not well known. Objectives: To study the relationship between transient hypoxia, respiration, and microvascular blood flow in patients with sickle cell. Methods: We established a protocol that mimics nighttime hypoxic episodes and measured microvascular blood flow to determine if transient hypoxia causes a decrease in microvascular blood flow. Significant desaturations were induced safely by five breaths of 100% nitrogen. Measurements and Main Results: Desaturation did not induce change in microvascular perfusion; however, it induced substantial transient parasympathetic activity withdrawal in patients with sickle cell disease, but not controls subjects. Marked periodic drops in peripheral microvascular perfusion, unrelated to hypoxia, were triggered by sighs in 11 of 11 patients with sickle cell and 8 of 11 control subjects. Although the sigh frequency was the same in both groups, the probability of a sigh inducing a perfusion drop was 78% in patients with sickle cell and 17% in control subjects (P < 0.001). Evidence for sigh-induced sympathetic nervous system dominance was seen in patients with sickle cell (P < 0.05), but was not significant in control subjects. Conclusions: These data demonstrate significant disruption of autonomic nervous system balance, with marked parasympathetic withdrawal in response to transient hypoxia. They draw attention to an enhanced autonomic nervous system–mediated sigh–vasoconstrictor response in patients with sickle cell that could increase red cell retention in the microvasculature, promoting vasoocclusion. PMID:21616995

Passion for a Cause: How It Affects Health and Subjective Well-Being.

PubMed

St-Louis, Ariane C; Carbonneau, Noémie; Vallerand, Robert J

2016-06-01

Using the dualistic model of passion (Vallerand et al., 2003), this research investigated how harmonious passion (HP) or obsessive passion (OP) for a cause can affect volunteers' health and subjective well-being. Three studies with volunteers for local (local emergency crises and community help) and international (humanitarian missions) causes assessed physical and psychological health using cross-sectional and longitudinal designs. Study 1 (N = 108) showed that HP was positively related to satisfaction with one's involvement in the cause and unrelated to physical injuries due to cause involvement. OP was unrelated to satisfaction but positively associated with injuries. Findings were replicated in Study 2 (N = 83). Moreover, self-neglect mediated the positive and negative effects of HP and OP, respectively, on injuries. Study 3 (N = 77) revealed that HP predicted an increase in satisfaction and health over a 3-month mission. OP predicted an increase in physical symptoms and a decrease in health. Furthermore, OP before a mission was positively related to self-neglect that was positively associated with physical symptoms after a mission. OP also positively predicted rumination that was conducive to posttraumatic stress disorder. HP was unrelated to these variables. Findings underscore the role of passion for a cause in predicting intrapersonal outcomes of volunteers. © 2014 Wiley Periodicals, Inc.

Heritage characteristics reported by a group of African-Americans who exhibit the pigment dispersion syndrome: a case-control study.

PubMed

Roberts, D K; Ho, L A; Beedle, N L; Flynn, F M; Gable, E M

2000-11-01

To investigate the racial heritage of a group of African-Americans who exhibit the pigment dispersion syndrome (PDS). Ten unrelated African-American PDS patients (age range 13-59) from a primary eye care population in Chicago, Illinois, USA, were interviewed to determine their racial heritage. Since Caucasian and Native American heritage were commonly reported, 101 unaffected African-American control subjects (age range 18-55) were also interviewed to determine the reported frequency of these specific racial heritage characteristics. Some degree of Caucasian heritage was reported by 100% of the PDS subjects and by 46.5% of controls. Native American heritage was reported by 90% of the PDS subjects and by 71.3% of controls. Based on these data, the PDS subjects were significantly more likely to report Caucasian heritage (Fisher's exact test, P=0.001) but they were not significantly more likely to report Native American heritage (P=0.282). In addition, the PDS subjects were significantly more likely to report Caucasian heritage from both parents (P=0.024) and more likely to report a combination of both Caucasian and Native American heritage (P=0.0006) than corresponding controls. In general, the PDS subjects had 'light' or 'medium' complexions. Results from this analysis are consistent with the hypothesis that non-African heritage, particularly Caucasian, is likely to be prevalent in the background of African-Americans who exhibit PDS. It is suggested that non-African heritage may not only be important for the transference of PDS causing genes, but it may also influence factors such as degree of iris pigmentation and rigidity which could influence iris contour and the subsequent expression of PDS in those who are genetically predisposed. Further investigation is needed to study the factors that influence the expression and severity of PDS among African-Americans, a population which traditionally has been considered to be rarely affected by this condition.

Prioritizing Site-Selection And Use

EPA Science Inventory

Land subject to remediation is usually considered relative to its availability and its potential financial return-on-investment. Typically, these short-term considerations are unrelated to the long-term conditional relationships that exist between humanity and a sustainable envi...

Role of white matter lesions, cerebral atrophy, and APOE on cognition in older persons with and without dementia: the Cache County, Utah, study of memory and aging.

PubMed

Bigler, Erin D; Lowry, Christopher M; Kerr, Burton; Tate, David F; Hessel, Cory D; Earl, Heath D; Miller, Michael J; Rice, Sara A; Smith, Kay H; Tschanz, JoAnn T; Welsh-Bohmer, Kathleen; Plassman, Brenda; Victoroff, Jeff

2003-07-01

Neuropsychological, qualitative, and quantitative magnetic resonance imaging findings were examined in subjects with Alzheimer's disease (AD), non-AD dementia or mixed neuropsychiatric disorder, subjects characterized as mild/ambiguous, and controls, all with known apolipoprotein E (APOE) genotype. Neuropsychological tasks included an expanded Consortium to Establish a Registery for Alzheimer's Disease (J. T. Tschanz et al., 2000; K. A. Welsh, J. M. Hoffman, N. L. Earl, & M. W. Hanson 1994) battery and the Mini-Mental Status Examination (M. F. Folstein, S. E. Folstein, & P. R. McHugh, 1975). Periventricular white matter lesions were the most clinically salient, and generalized measures of cerebral atrophy were the most significant quantitative indicators. APOE genotype was unrelated to imaging or neuropsychological performance. Neuropsychological relationships with neuroimaging findings depend on the qualitative or quantitative method used.

Aberrant temporal and spatial brain activity during rest in patients with chronic pain

PubMed Central

Malinen, Sanna; Vartiainen, Nuutti; Hlushchuk, Yevhen; Koskinen, Miika; Ramkumar, Pavan; Forss, Nina; Kalso, Eija; Hari, Riitta

2010-01-01

In the absence of external stimuli, human hemodynamic brain activity displays slow intrinsic variations. To find out whether such fluctuations would be altered by persistent pain, we asked 10 patients with unrelenting chronic pain of different etiologies and 10 sex- and age-matched control subjects to rest with eyes open during 3-T functional MRI. Independent component analysis was used to identify functionally coupled brain networks. Time courses of an independent component comprising the insular cortices of both hemispheres showed stronger spectral power at 0.12 to 0.25 Hz in patients than in control subjects, with the largest difference at 0.16 Hz. A similar but weaker effect was seen in the anterior cingulate cortex, whereas activity of the precuneus and early visual cortex, used as a control site, did not differ between the groups. In the patient group, seed point-based correlation analysis revealed altered spatial connectivity between insulae and anterior cingulate cortex. The results imply both temporally and spatially aberrant activity of the affective pain-processing areas in patients suffering from chronic pain. The accentuated 0.12- to 0.25-Hz fluctuations in the patient group might be related to altered activity of the autonomic nervous system. PMID:20308545

Mixed Model Association with Family-Biased Case-Control Ascertainment.

PubMed

Hayeck, Tristan J; Loh, Po-Ru; Pollack, Samuela; Gusev, Alexander; Patterson, Nick; Zaitlen, Noah A; Price, Alkes L

2017-01-05

Mixed models have become the tool of choice for genetic association studies; however, standard mixed model methods may be poorly calibrated or underpowered under family sampling bias and/or case-control ascertainment. Previously, we introduced a liability threshold-based mixed model association statistic (LTMLM) to address case-control ascertainment in unrelated samples. Here, we consider family-biased case-control ascertainment, where case and control subjects are ascertained non-randomly with respect to family relatedness. Previous work has shown that this type of ascertainment can severely bias heritability estimates; we show here that it also impacts mixed model association statistics. We introduce a family-based association statistic (LT-Fam) that is robust to this problem. Similar to LTMLM, LT-Fam is computed from posterior mean liabilities (PML) under a liability threshold model; however, LT-Fam uses published narrow-sense heritability estimates to avoid the problem of biased heritability estimation, enabling correct calibration. In simulations with family-biased case-control ascertainment, LT-Fam was correctly calibrated (average χ 2 = 1.00-1.02 for null SNPs), whereas the Armitage trend test (ATT), standard mixed model association (MLM), and case-control retrospective association test (CARAT) were mis-calibrated (e.g., average χ 2 = 0.50-1.22 for MLM, 0.89-2.65 for CARAT). LT-Fam also attained higher power than other methods in some settings. In 1,259 type 2 diabetes-affected case subjects and 5,765 control subjects from the CARe cohort, downsampled to induce family-biased ascertainment, LT-Fam was correctly calibrated whereas ATT, MLM, and CARAT were again mis-calibrated. Our results highlight the importance of modeling family sampling bias in case-control datasets with related samples. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Therapeutic profile of single-fraction radiosurgery of vestibular schwannoma: unrelated malignancy predicts tumor control

PubMed Central

Wowra, Berndt; Muacevic, Alexander; Fürweger, Christoph; Schichor, Christian; Tonn, Jörg-Christian

2012-01-01

Radiosurgery has become an accepted treatment option for vestibular schwannomas. Nevertheless, predictors of tumor control and treatment toxicity in current radiosurgery of vestibular schwannomas are not well understood. To generate new information on predictors of tumor control and cranial nerve toxicity of single-fraction radiosurgery of vestibular schwannomas, we conducted a single-institution long-term observational study of radiosurgery for sporadic vestibular schwannomas. Minimum follow-up was 3 years. Investigated as potential predictors of tumor control and cranial nerve toxicity were treatment technology; tumor resection preceding radiosurgery; tumor size; gender; patient age; history of cancer, vascular disease, or metabolic disease; tumor volume; radiosurgical prescription dose; and isodose line. Three hundred eighty-six patients met inclusion criteria. Treatment failure was observed in 27 patients. History of unrelated cancer (strongest predictor) and prescription dose significantly predicted tumor control. The cumulative incidence of treatment failure was 30% after 6.5 years in patients with unrelated malignancy and 10% after ≥15 years in patients without such cancer (P < .02). Tumor volume was the only predictor of trigeminal neuropathy (observed in 6 patients). No predictor of facial nerve toxicity was found. On the House and Brackmann scale, 1 patient had a permanent one-level drop and 7 a transient drop of 1 to 3 levels. Serviceable hearing was preserved in 75.1%. Tumor hearing before radiosurgery, recurrence, and prescription isodose predicted ototoxicity. Unrelated malignancy is a strong predictor of tumor control. Tumor recurrence predominantly predicts ototoxicity. These findings potentially will aid future clinical decision making in ambiguous cases. PMID:22561798

Porphyromonas endodontalis: prevalence and distribution of restriction enzyme patterns in families.

PubMed

Petit, M D; van Winkelhoff, A J; van Steenbergen, T J; de Graaff, J

1993-08-01

In this study we determined the prevalence and distribution of Porphyromonas endodontalis in 26 families consisting of 107 subjects. P. endodontalis was present in 24% of the investigated subjects and was recovered most often from the dorsum of the tongue (50%). Isolation was also possible from the tonsils, the buccal mucosa, the saliva and the periodontal pocket. The usefulness of restriction endonuclease analysis as a typing method for this particular species was investigated by typing 19 isolates from unrelated individuals. All these isolates had unique restriction endonuclease patterns. The observed heterogeneity indicates that restriction endonuclease analysis is a sensitive measure of genetic dissimilarity between P. endodontalis isolates and is able to characterize individual isolates. Application of restriction endonuclease analysis to the obtained clinical isolates in this study shows the possibility of the presence of multiple clonal types within one subject. The DNA patterns of all P. endodontalis isolates from unrelated individuals were found to be distinct. In 3 families the DNA patterns of isolates from the mother and her child were indistinguishable. These data indicate the possibility of intrafamilial transmission of P. endodontalis.

Polymorphisms of the peroxisome proliferator-activated receptor-γ (rs1801282) and its coactivator-1 (rs8192673) are associated with obesity indexes in subjects with type 2 diabetes mellitus.

PubMed

Kruzliak, Peter; Haley, Andreana P; Starcevic, Jovana Nikolajevic; Gaspar, Ludovit; Petrovic, Daniel

2015-04-28

The aim of this study was to clarify whether common single nucleotide polymorphisms (SNPs) of the Peroxisome Proliferator-Activated Receptor-γ (PPAR-γ) gene (rs1801282) and the Peroxisome Proliferator-Activated Receptor-γ Coactivator-1 (PGC-1α) gene (rs8192673) are associated with obesity indexes (BMI, waist circumference) in subjects with type 2 diabetes mellitus (T2DM) in Caucasian population. The second aim was to find an association of both polymorphisms with T2DM. Two exonic SNPs of both genes rs1801282 of the PPAR-γ gene and rs8192673 of the PGC-1α gene) were genotyped in 881 unrelated Slovene subjects (Caucasians) with T2DM and in 348 subjects without T2DM (control subjects). Female homozygotes with the CC genotype of the rs8192673 had higher waist circumference in comparison with subjects with other genotypes. Homozygotes (females, males) with wild allele (Pro) of the rs1801282 (Pro12Ala polymorphism) had higher waist circumference in comparison with subjects with other genotypes. In the study, there were no differences in the distributions of the rs8192673 and the rs1801282 genotypes between patients with T2DM and controls. Linear regression analyses for both polymorphisms were performed and demonstrated an independent effect of the rs1801282 of the PPAR-γ on waist circumference in subjects with T2DM, whereas an independent effect on waist circumference was not demonstrated for the rs8192673 of the PGC-1α gene. In a large sample of the Caucasians the rs8192673 of the PGC-1α gene and the rs1801282 of the PPAR-γ gene were associated with waist circumference in subjects with T2DM.

Study of a possible role of the monoamine oxidase A (MAOA) gene in paranoid schizophrenia among a Chinese population.

PubMed

Sun, Yuhui; Zhang, Jiexu; Yuan, Yanbo; Yu, Xin; Shen, Yan; Xu, Qi

2012-01-01

Monoamine oxidase A (MAOA) is the enzyme responsible for degradation of several monoamines, such as dopamine and serotonin that are considered as being two of the most important neurotransmitters involved in the pathophysiology of schizophrenia. To study a possible role of the MAOA gene in conferring susceptibility to schizophrenia, the present study genotyped the variable number of tandem repeat (VNTR) polymorphism and 41 SNPs across this gene among 555 unrelated patients with paranoid schizophrenia and 567 unrelated healthy controls. Quantitative real-time PCR analysis was employed to quantify expression of MAOA mRNA in 73 drug-free patients. While none of these genotyped DNA markers showed allelic association with paranoid schizophrenia, haplotypic association was found for the VNTR-rs6323, VNTR-rs1137070, and VNTR-rs6323-rs1137070 haplotypes in female subjects. Nevertheless, no significant change of the expression of MAOA mRNA was detected in either female or male patients with paranoid schizophrenia. Our study suggests that the interaction between genetic variants within the MAOA gene may contribute to an increased risk of paranoid schizophrenia, but the precise mechanism needs further investigation. Copyright © 2011 Wiley Periodicals, Inc.

Increased plasma chemokine levels in children with Prader-Willi syndrome.

PubMed

Butler, Merlin G; Hossain, Waheeda; Sulsona, Carlos; Driscoll, Daniel J; Manzardo, Ann M

2015-03-01

Prader-Willi syndrome (PWS) is caused by loss of paternally expressed genes from the 15q11-q13 region and reportedly rearranged as a cause of autism. Additionally, increased inflammatory markers and features of autism are reported in PWS. Cytokines encoded by genes involved with inflammation, cell proliferation, migration, and adhesion play a role in neurodevelopment and could be disturbed in PWS as abnormal plasma cytokine levels are reported in autism. We analyzed 41 plasma cytokines in a cohort of well-characterized children with PWS between 5 and 11 years of age and unaffected unrelated siblings using multiplex sandwich immunoassays with the Luminex magnetic-bead based platform. Data were analyzed using ANOVA testing for effects of diagnosis, gender, body mass index (BMI) and age on the 24 cytokines meeting laboratory criteria for inclusion. No significant effects were observed for age, gender or BMI. The log-transformed levels of the 24 analyzable cytokines were examined simultaneously using MANOVA adjusting for age and gender and a main effect of diagnosis was found (P-value <0.03). Four of 24 plasma cytokine levels (MCP1, MDC, Eotaxin, RANTES) were significantly higher in children with PWS compared with controls and classified as bioinflammatory chemokines supporting a disturbed immune response unrelated to obesity status. BMI was not statistically different in the two subject groups (PWS or unaffected unrelated siblings) and chemokine levels were not correlated with percentage of total body fat. Additional studies are required to identify whether possible early immunological disturbances and chemokine inflammatory processes found in PWS may contribute to neurodevelopment and behavioral features. © 2015 Wiley Periodicals, Inc.

Association between the epidermal growth factor gene and intelligence in major depression patients.

PubMed

Tian, Wen-min; Zhang, Ke-ran; Zhang, Juan; Shen, Yan; Xu, Qi

2010-06-01

To study the association between the epidermal growth factor (EGF) gene and intelligence in patients with major depression. Intelligence measurement using Wechsler Adult Intelligence Scale (WAIS) was performed on 120 unrelated patients with major depression and 46 control subjects. Blood was collected from all subjects for extraction of genomic DNA. Four single nucleotide polymorphisms (SNPs) in the EGF gene were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI- TOF-MS). Mean scores of both score lang and score task, two subtests in WAIS, differed significantly between major depression patients and controls (P<0.0001). Quantitative trait analysis showed that the genotype of rs2250724 was closely associated with score lang and score task in major depression patients. The associations were still significant after 10 000 permutations. Although preliminary, our results provide evidence for association between the EGF gene and intelligence in patients with major depression. Genetic variation in the EGF gene may increase the susceptibility of major depression.

Electrophysiological correlates of cross-linguistic semantic integration in hearing signers: N400 and LPC.

PubMed

Zachau, Swantje; Korpilahti, Pirjo; Hämäläinen, Jarmo A; Ervast, Leena; Heinänen, Kaisu; Suominen, Kalervo; Lehtihalmes, Matti; Leppänen, Paavo H T

2014-07-01

We explored semantic integration mechanisms in native and non-native hearing users of sign language and non-signing controls. Event-related brain potentials (ERPs) were recorded while participants performed a semantic decision task for priming lexeme pairs. Pairs were presented either within speech or across speech and sign language. Target-related ERP responses were subjected to principal component analyses (PCA), and neurocognitive basis of semantic integration processes were assessed by analyzing the N400 and the late positive complex (LPC) components in response to spoken (auditory) and signed (visual) antonymic and unrelated targets. Semantically-related effects triggered across modalities would indicate a similar tight interconnection between the signers׳ two languages like that described for spoken language bilinguals. Remarkable structural similarity of the N400 and LPC components with varying group differences between the spoken and signed targets were found. The LPC was the dominant response. The controls׳ LPC differed from the LPC of the two signing groups. It was reduced to the auditory unrelated targets and was less frontal for all the visual targets. The visual LPC was more broadly distributed in native than non-native signers and was left-lateralized for the unrelated targets in the native hearing signers only. Semantic priming effects were found for the auditory N400 in all groups, but only native hearing signers revealed a clear N400 effect to the visual targets. Surprisingly, the non-native signers revealed no semantically-related processing effect to the visual targets reflected in the N400 or the LPC; instead they appeared to rely more on visual post-lexical analyzing stages than native signers. We conclude that native and non-native signers employed different processing strategies to integrate signed and spoken semantic content. It appeared that the signers׳ semantic processing system was affected by group-specific factors like language background and/or usage. Copyright © 2014 Elsevier Ltd. All rights reserved.

Genetic association studies of the FOXP3 gene in Graves' disease and autoimmune Addison's disease in the United Kingdom population.

PubMed

Owen, Catherine J; Eden, James A; Jennings, Claire E; Wilson, Valerie; Cheetham, Tim D; Pearce, Simon H S

2006-08-01

Regulatory T lymphocytes play a crucial role in modulating potentially self-reactive clones, and dysfunction of this cell type contributes to autoimmune disease. FOXP3 is a critical determinant of CD(4+)CD(25+)T regulatory (T(reg)) cell development and function. The aim of this study was to investigate whether genetic polymorphisms at the FOXP3 locus predispose to autoimmune endocrinopathies. Five single nucleotide polymorphisms (SNPs) and two microsatellite polymorphisms were genotyped in our Caucasian cohorts of 633 unrelated Graves' disease (GD) subjects, 104 autoimmune Addison's disease (AAD) subjects and 528 healthy controls. SNP genotyping was performed by either restriction enzyme digestion or by primer-extension-MALDI-TOF (matrix-assisted laser desorption/ionisation time-of-flight) assay. Microsatellites were analysed using fluorescent PCR. Case-control analysis was performed using chi(2) testing on contingency tables for allele frequency. Haplotype analysis was performed using the UNPHASED package. No evidence for disease association was found with any of the seven polymorphisms in either of the GD or AAD subjects as compared with controls (P = 0.26-0.94). Haplotype analysis found a weak evidence for the association of a minor haplotype with GD; this was not significant when corrected for multiple testing. This study has found no robust evidence that FOXP3 gene polymorphism contributes to the susceptibility to GD or AAD in the UK population.

Accelerated Intermittent Theta Burst Stimulation for Suicide Risk in Therapy-Resistant Depressed Patients: A Randomized, Sham-Controlled Trial.

PubMed

Desmyter, Stefanie; Duprat, Romain; Baeken, Chris; Van Autreve, Sara; Audenaert, Kurt; van Heeringen, Kees

2016-01-01

Objectives: We aimed to examine the effects and safety of accelerated intermittent Theta Burst Stimulation (iTBS) on suicide risk in a group of treatment-resistant unipolar depressed patients, using an extensive suicide assessment scale. Methods: In 50 therapy-resistant, antidepressant-free depressed patients, an intensive protocol of accelerated iTBS was applied over the left dorsolateral prefrontal cortex (DLPFC) in a randomized, sham-controlled crossover design. Patients received 20 iTBS sessions over 4 days. Suicide risk was assessed using the Beck Scale of Suicide ideation (BSI). Results: The iTBS protocol was safe and well tolerated. We observed a significant decrease of the BSI score over time, unrelated to active or sham stimulation and unrelated to depression-response. No worsening of suicidal ideation was observed. The effects of accelerated iTBS on mood and depression severity are reported in Duprat et al. (2016). The decrease in suicide risk lasted up to 1 month after baseline, even in depression non-responders. Conclusions: This accelerated iTBS protocol was safe. The observed significant decrease in suicide risk was unrelated to active or sham stimulation and unrelated to depression response. Further sham-controlled research in suicidal depressed patients is necessary. (Clinicaltrials.gov identifier: NCT01832805).

Which Measures of Obesity Are Related to Depressive Symptoms and in Whom?

PubMed Central

Lim, Weonjeong; Thomas, Kamala S.; Bardwell, Wayne A.; Dimsdale, Joel E.

2009-01-01

The authors asked which obesity measurements were associated with depressive symptoms, whether this relationship differed by gender, and whether controlling for fatigue and response bias affected the relationship. A sample of 129 subjects (66 men, 63 women), with a mean age of 36.9 years and a mean Body Mass Index (BMI) of 26.4 participated in the study. Depressive symptoms, levels of fatigue, response bias, and anthropometrics were assessed. In women, but not men, BMI and percent of ideal body weight were related to depression. However, percent of body fat did not show a relationship with depression after controlling for fatigue and response bias. These findings suggest that women’s depressive symptoms are more influenced by body size than body fat composition, whereas men’s depressive symptoms seem to be unrelated to obesity. PMID:18212172

Polymorphism of angiotensin-converting enzyme gene in sarcoidosis.

PubMed

Arbustini, E; Grasso, M; Leo, G; Tinelli, C; Fasani, R; Diegoli, M; Banchieri, N; Cipriani, A; Gorrini, M; Semenzato, G; Luisetti, M

1996-02-01

Sarcoidosis is the disease in which increased levels of serum Angiotensin-converting enzyme (sACE) are most often detected. It has recently been shown that the deletion (D) or the insertion (I) of a 250bp-DNA fragment in the ACE gene accounts for three main ACE genotypes (i.e., II, ID, and DD) and for 47% of total phenotypic variance in sACE level. The aim of our work was to investigate whether or not patients with sarcoidosis have an increased incidence of those ACE genotypes coding for highest sACE levels and to investigate whether or not sACE level in sarcoidosis is related to ACE genotypes. We studied 61 unrelated patients with sarcoidosis (test group) and 80 unrelated healthy control subjects (control group). The ACE I and D alleles were detected with polymerase chain reaction on genomic DNA. In the control group we found an ACE genotype distribution that agreed with the Hardy-Weinberg proportion. The ACE genotype distribution was not significantly different in the test group. There was no correlation between ACE genotype and roentgenologic stage of sarcoidosis. Plotting the sACE level in the control group against ACE genotype, we found a trend of increasing mean sACE value according to the order II < ID < DD. The same trend for ACE genotype was found in the test group, in which it also paralleled the trend of sACE values plotted against roentgenologic stage, according to the order Stage I < Stage II < Stage III. We conclude that in sarcoidosis the ACE genotype distribution is not altered. The trends for increasing sACE values in sarcoidosis according to both ACE genotype and roentgenologic stage would suggest that both mechanisms play a role in determining sACE level.

Family distribution of anti-F(ab')2 antibodies in relatives of patients with systemic lupus erythematosus.

PubMed Central

Silvestris, F; Searles, R P; Bankhurst, A D; Williams, R C

1985-01-01

Recently we reported an inverse relationship between the levels of anti-F(ab')2 antibodies and disease activity in systemic lupus erythematosus (SLE). The present study focused on anti-F(ab')2 antibodies in unaffected relatives of SLE patients. Sixty sera from first degree family members from 11 SLE families and 49 sera from 8 control families were studied. Percentage of SLE family members with anti-DNA antibodies (15%) was higher than than control family sera (8%, P less than 0.05). Anti-F(ab')2 antibodies were measured using ELISA assays. The SLE family sera had higher amounts of anti-F(ab')2 antibodies than the normal control family group (P = 0.0051). In an effort to determine if anti-F(ab')2 antibodies found in high titres in the sera of some SLE family members had specificity for the F(ab')2 fragment of anti-DNA antibodies of the SLE relative patients, DNA-anti-DNA inhibition experiments were performed using anti-F(ab')2 prepared from the relative in parallel with anti-F(ab')2 prepared from normal controls with equivalent high titres of serum anti-F(ab')2. Inhibition exhibited by anti-F(ab')2 of first degree relatives was higher than that obtained from control normal donors (P less than 0.02). Such differences in inhibition were not recorded using a control tetanus toxoid-anti-tetanus toxoid assay. In direct binding ELISA experiments, peroxidase-conjugated anti-F(ab')2 antibodies from the same first degree relative showed high relative specificity against purified anti-DNA antibodies of his SLE proband when compared to those obtained against different anti-DNA antibodies isolated from unrelated SLE patients (P less than 0.001). Such a substantial difference was not observed in parallel experiments using peroxidase conjugated anti-F(ab')2 antibodies from normal controls unrelated to SLE subjects. PMID:3874025

Case control study: hyperbaric oxygen treatment of mild traumatic brain injury persistent post-concussion syndrome and post-traumatic stress disorder

PubMed Central

Harch, Paul G.; Andrews, Susan R.; Fogarty, Edward F.; Lucarini, Juliette; Van Meter, Keith W.

2017-01-01

Mild traumatic brain injury (TBI) persistent post-concussion syndrome (PPCS) and post-traumatic stress disorder (PTSD) are epidemic in United States Iraq and Afghanistan War veterans. Treatment of the combined diagnoses is limited. The aim of this study is to assess safety, feasibility, and effectiveness of hyperbaric oxygen treatments (HBOT) for mild TBI PPCS and PTSD. Thirty military subjects aged 18–65 with PPCS with or without PTSD and from one or more blast-induced mild-moderate traumatic brain injuries that were a minimum of 1 year old and occurred after 9/11/2001 were studied. The measures included symptom lists, physical exam, neuropsychological and psychological testing on 29 subjects (1 dropout) and SPECT brain imaging pre and post HBOT. Comparison was made using SPECT imaging on 29 matched Controls. Side effects (30 subjects) experienced due to the HBOT: reversible middle ear barotrauma (n = 6), transient deterioration in symptoms (n = 7), reversible bronchospasm (n = 1), and increased anxiety (n = 2; not related to confinement); unrelated to HBOT: ureterolithiasis (n = 1), chest pain (n = 2). Significant improvement (29 subjects) was seen in neurological exam, symptoms, intelligence quotient, memory, measures of attention, dominant hand motor speed and dexterity, quality of life, general anxiety, PTSD, depression (including reduction in suicidal ideation), and reduced psychoactive medication usage. At 6-month follow-up subjects reported further symptomatic improvement. Compared to Controls the subjects' SPECT was significantly abnormal, significantly improved after 1 and 40 treatments, and became statistically indistinguishable from Controls in 75% of abnormal areas. HBOT was found to be safe and significantly effective for veterans with mild to moderate TBI PPCS with PTSD in all four outcome domains: clinical medicine, neuropsychology, psychology, and SPECT imaging. Veterans also experienced a significant reduction in suicidal ideation and reduction in psychoactive medication use. PMID:29152209

Case control study: hyperbaric oxygen treatment of mild traumatic brain injury persistent post-concussion syndrome and post-traumatic stress disorder.

PubMed

Harch, Paul G; Andrews, Susan R; Fogarty, Edward F; Lucarini, Juliette; Van Meter, Keith W

2017-01-01

Mild traumatic brain injury (TBI) persistent post-concussion syndrome (PPCS) and post-traumatic stress disorder (PTSD) are epidemic in United States Iraq and Afghanistan War veterans. Treatment of the combined diagnoses is limited. The aim of this study is to assess safety, feasibility, and effectiveness of hyperbaric oxygen treatments (HBOT) for mild TBI PPCS and PTSD. Thirty military subjects aged 18-65 with PPCS with or without PTSD and from one or more blast-induced mild-moderate traumatic brain injuries that were a minimum of 1 year old and occurred after 9/11/2001 were studied. The measures included symptom lists, physical exam, neuropsychological and psychological testing on 29 subjects (1 dropout) and SPECT brain imaging pre and post HBOT. Comparison was made using SPECT imaging on 29 matched Controls. Side effects (30 subjects) experienced due to the HBOT: reversible middle ear barotrauma ( n = 6), transient deterioration in symptoms ( n = 7), reversible bronchospasm ( n = 1), and increased anxiety ( n = 2; not related to confinement); unrelated to HBOT: ureterolithiasis ( n = 1), chest pain ( n = 2). Significant improvement (29 subjects) was seen in neurological exam, symptoms, intelligence quotient, memory, measures of attention, dominant hand motor speed and dexterity, quality of life, general anxiety, PTSD, depression (including reduction in suicidal ideation), and reduced psychoactive medication usage. At 6-month follow-up subjects reported further symptomatic improvement. Compared to Controls the subjects' SPECT was significantly abnormal, significantly improved after 1 and 40 treatments, and became statistically indistinguishable from Controls in 75% of abnormal areas. HBOT was found to be safe and significantly effective for veterans with mild to moderate TBI PPCS with PTSD in all four outcome domains: clinical medicine, neuropsychology, psychology, and SPECT imaging. Veterans also experienced a significant reduction in suicidal ideation and reduction in psychoactive medication use.

Clustering of motor and nonmotor traits in leucine-rich repeat kinase 2 G2019S Parkinson's disease nonparkinsonian relatives: A multicenter family study.

PubMed

Mestre, Tiago A; Pont-Sunyer, Claustre; Kausar, Farah; Visanji, Naomi P; Ghate, Taneera; Connolly, Barbara S; Gasca-Salas, Carmen; Kern, Drew S; Jain, Jennifer; Slow, Elizabeth J; Faust-Socher, Achinoam; Kasten, Meike; Wadia, Pettarusp M; Zadikoff, Cindy; Kumar, Prakash; de Bie, Ronald M; Thomsen, Teri; Lang, Anthony E; Schüle, Birgitt; Klein, Christine; Tolosa, Eduardo; Marras, Connie

2018-04-17

The objective of this study was to determine phenotypic features that differentiate nonparkinsonian first-degree relatives of PD leucine-rich repeat kinase 2 (LRRK2) G2019S multiplex families, regardless of carrier status, from healthy controls because nonparkinsonian individuals in multiplex families seem to share a propensity to present neurological features. We included nonparkinsonian first-degree relatives of LRRK2 G2019S familial PD cases and unrelated healthy controls participating in established multiplex family LRRK2 cohorts. Study participants underwent neurologic assessment including cognitive screening, olfaction testing, and questionnaires for daytime sleepiness, depression, and anxiety. We used a multiple logistic regression model with backward variable selection, validated with bootstrap resampling, to establish the best combination of motor and nonmotor features that differentiates nonparkinsonian first-degree relatives of LRRK2 G2019S familial PD cases from unrelated healthy controls. We included 142 nonparkinsonian family members and 172 unrelated healthy controls. The combination of past or current symptoms of anxiety (adjusted odds ratio, 4.16; 95% confidence interval, 2.01-8.63), less daytime sleepiness (adjusted odds ratio [1 unit], 0.90; 95% confidence interval, 0.83-0.97], and worse motor UPDRS score (adjusted odds ratio [1 unit], 1.4; 95% confidence interval, 1.20-1.67) distinguished nonparkinsonian family members, regardless of LRRK2 G2019S mutation status, from unrelated healthy controls. The model accuracy was good (area under the curve = 79.3%). A set of motor and nonmotor features distinguishes first-degree relatives of LRRK2 G2019S probands, regardless of mutation status, from unrelated healthy controls. Environmental or non-LRRK2 genetic factors in LRRK2-associated PD may influence penetrance of the LRRK2 G2019S mutation. The relationship of these features to actual PD risk requires longitudinal observation of LRRK2 familial PD cohorts. © 2018 International Parkinson and Movement Disorder Society. © 2018 International Parkinson and Movement Disorder Society.

Social Support and Performance in Complex Organizations.

DTIC Science & Technology

1984-01-30

which subjects’ perceptions of their parents ’ interest in and overprotection of them were related to current social support levels. The findings...support levels are related to subjects’ perceptions of experiences earlier in life. Using the Parental Bonding Instrument, studies were carried out in...indicated clearly that, while parental over-protection is unrelated to scores on the Social Sarason 7 Support Questionnaire there is a highly significant

Frequency and Clinicopathological Characteristics of Presenilin 1 Gly206Ala Mutation in Puerto Rican Hispanics with Dementia

PubMed Central

Arnold, Steven E.; Vega, Irving E.; Karlawish, Jason H.; WoIk, David A.; Nunez, Jessica; Negron, Mirna; Xie, Sharon X.; Wang, Li-San; Dubroff, Jacob G.; McCarty-Wood, Elisabeth; Trojanowski, John Q.; Van Deerlin, Vivianna

2012-01-01

The frequency and clinical and pathological characteristics associated with the Gly206Ala presenilin 1 (PSEN1) mutation in Puerto Rican and non-Puerto Rican Hispanics were evaluated at the University of Pennsylvania’s Alzheimer’s Disease Center. DNAs from all cohort subjects were genotyped for the Gly206Ala PSEN1 mutation. Carriers and non-carriers with neurodegenerative disease dementias were compared for demographic, clinical, psychometric, and biomarker variables. Nineteen (12.6%) of 151 unrelated subjects with dementia were discovered to carry the PSEN1 Gly 206Ala mutation. Microsatellite marker genotyping determined a common ancestral haplotype for all carriers. Carriers were all of Puerto Rican heritage with significantly younger age of onset, but otherwise were clinically and neuropsychologically comparable to those of non-carriers with AD. Three subjects had extensive topographic and biochemical biomarker assessments that were also typical of non-carriers with AD. Neuropathological examination in one subject revealed severe, widespread plaque and tangle pathology without other meaningful disease lesions. The PSEN1 Gly206Ala mutation is notably frequent in unrelated Puerto Rican immigrants with dementia in Philadelphia. Considered together with the increased prevalence and mortality of AD reported in Puerto Rico, these high rates may reflect hereditary risk concentrated in the island which warrants further study. PMID:23114514

Effect of simulator training on driving after stroke: a randomized controlled trial.

PubMed

Akinwuntan, A E; De Weerdt, W; Feys, H; Pauwels, J; Baten, G; Arno, P; Kiekens, C

2005-09-27

Neurologically impaired persons seem to benefit from driving-training programs, but there is no convincing evidence to support this notion. The authors therefore investigated the effect of simulator-based training on driving after stroke. Eighty-three first-ever subacute stroke patients entered a 5-week 15-hour training program in which they were randomly allocated to either an experimental (simulator-based training) or control (driving-related cognitive tasks) group. Performance in off-road evaluations and an on-road test were used to assess the driving ability of subjects pre- and post-training. Outcome of an official predriving assessment administered 6 to 9 months poststroke was also considered. Both groups significantly improved in a visual and many neuropsychological evaluations and in the on-road test after training. There were no significant differences between both groups in improvements from pre- to post-training except in the "road sign recognition test" in which the experimental subjects improved more. Significant improvements in the three-class decision ("fit to drive," "temporarily unfit to drive," and "unfit to drive") were found in favor of the experimental group post-training. Academic qualification and overall disability together determined subjects that benefited most from the simulator-based driving training. Significantly more experimental subjects (73%) than control subjects (42%) passed the follow-up official predriving assessment and were legally allowed to resume driving. Simulator-based driving training improved driving ability, especially for well educated and less disabled stroke patients. However, the findings of the study may have been modified as a result of the large number of dropouts and the possibility of some neurologic recovery unrelated to training.

Association of -31T>C and -511 C>T polymorphisms in the interleukin 1 beta (IL1B) promoter in Korean keratoconus patients.

PubMed

Kim, So-Hee; Mok, Jee-Won; Kim, Hyun-Seok; Joo, C K

2008-01-01

To investigate the genetic association between unrelated Korean keratoconus patients and interleukin 1 alpha (IL1A), interleukin 1 beta (IL1B), and IL1 receptor antagonist (IL1RN) gene polymorphisms. We investigated the association between IL1A (rs1800587, rs2071376, and rs17561), IL1B (rs1143627, rs16944, rs1143634, and rs1143633), and IL1RN (rs419598, rs423904, rs424078, and rs315952, variable number tandem repeat [VNTR]) polymorphisms in 100 unrelated Korean keratoconus patients. One hundred control individuals without any corneal disease were selected from the general population. Polymerase chain reaction (PCR) - restriction fragment length polymorphism (RFLP) analysis and direct sequencing were used to screen for genetic variations in the IL1 gene cluster. Haplotypes for the IL1 gene cluster were constructed using Haploview version 4.0. We analyzed a total of 12 polymorphic sites in the IL1 gene cluster. Among them, the -511 (rs16944) and -31 (rs1143627) positions in the promoter region of IL1B were significantly different between patient and control groups. The C allele of rs16944 (-511C>T, p=0.022, odds ratio of risk [OR]=1.46, 95% confidence intervals [CI] 0.94<2.27) and the T allele of rs1143627 (-31T>C, p=0.025, OR=1.43, 95% CI 0.92<2.22) were associated with a significantly increased risk of keratoconus in Korean patients. Linkage of the two alleles, -31*C and -511*T, was associated with an increased risk for keratoconus with OR=2.38 (p=0.012, 95% CI=1.116-5.046). The *C/*A genotype of rs2071376 in IL1A intron 6 was significantly different between the keratoconus patients and control subjects (p=0.034, OR=0.59, 95% CI 0.32<1.11). Other polymorphisms did not show an association with keratoconus risk. This is the first report of IL1 gene cluster mutation screening in Korean keratoconus patients. Significant differences in allelic frequency of IL1B between keratoconus patients and the control group suggest that IL1B polymorphisms may play a role in the susceptibility of unrelated Koreans to develop keratoconus.

Developmental prosopagnosia and super-recognition: no special role for surface reflectance processing

PubMed Central

Russell, Richard; Chatterjee, Garga; Nakayama, Ken

2011-01-01

Face recognition by normal subjects depends in roughly equal proportions on shape and surface reflectance cues, while object recognition depends predominantly on shape cues. It is possible that developmental prosopagnosics are deficient not in their ability to recognize faces per se, but rather in their ability to use reflectance cues. Similarly, super-recognizers’ exceptional ability with face recognition may be a result of superior surface reflectance perception and memory. We tested this possibility by administering tests of face perception and face recognition in which only shape or reflectance cues are available to developmental prosopagnosics, super-recognizers, and control subjects. Face recognition ability and the relative use of shape and pigmentation were unrelated in all the tests. Subjects who were better at using shape or reflectance cues were also better at using the other type of cue. These results do not support the proposal that variation in surface reflectance perception ability is the underlying cause of variation in face recognition ability. Instead, these findings support the idea that face recognition ability is related to neural circuits using representations that integrate shape and pigmentation information. PMID:22192636

X-linked congenital panhypopituitarism.

PubMed

Schimke, R N; Spaulding, J J; Hollowell, J G

1971-05-01

Two half brothers with panhypopituitary dwarfism are reported who have the same mother and different, unrelated fathers. The subject of hereditary panhypopituitarism is reviewed briefly. It is concluded that there are at least two forms of hereditary panhypopituitary dwarfism, one of which may be X-linked.

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients.

PubMed

Del Bo, Roberto; Bordoni, Andreina; Martinelli Boneschi, Filippo; Crimi, Marco; Sciacco, Monica; Bresolin, Nereo; Scarlato, Guglielmo; Comi, Giacomo Pietri

2002-10-15

The progressive accumulation of mitochondrial DNA (mtDNA) alterations, ranging from single mutations to large-scale deletions, in both the normal ageing process and pathological conditions is a relevant phenomenon in terms of frequency and heteroplasmic degree. Recently, two point mutations (A189G and T408A) within the Displacement loop (D-loop) region, the control region for mtDNA replication, were shown to occur in skeletal muscles from aged individuals. We evaluated the presence and the heteroplasmy levels of these two mutations in muscle biopsies from 91 unrelated individuals of different ages (21 healthy subjects and 70 patients affected by mitochondrial encephalomyopathies). Overall, both mutations significantly accumulate with age. However, a different relationship was discovered among the different subgroups of patients: a higher number of A189G positive subjects younger than 53 years was detected in the subgroup of multiple-deleted patients; furthermore, a trend towards an increased risk for the mutations was evidenced among patients carrying multiple deletions when compared to healthy controls. These findings support the idea that a common biological mechanism determines the accumulation of somatic point mutations in the D-loop region, both in healthy subjects and in mitochondrial myopathy patients. At the same time, it appears that disorders caused by mutations of nuclear genes controlling mtDNA replication (the "mtDNA multiple deletions" syndromes) present a temporal advantage to mutate in the D-loop region. This observation may be relevant to the definition of the molecular pathogenesis of these latter syndromes. Copyright 2002 Elsevier Science B.V.

Electrocardiographic abnormalities in amateur male marathon runners.

PubMed

Kaleta, Anna M; Lewicka, Ewa; Dąbrowska-Kugacka, Alicja; Lewicka-Potocka, Zuzanna; Wabich, Elżbieta; Szerszyńska, Anna; Dyda, Julia; Sobolewski, Jakub; Koenner, Jakub; Raczak, Grzegorz

2018-06-18

Sports activity has become extremely popular among amateurs. Electrocardiography is a useful tool in screening for cardiac pathologies in athletes; however, there is little data on electrocardiographic abnormalities in the group of amateur athletes. The aim of this study was to analyze the abnormalities in resting and exercise electrocardiograms (ECGs) in a group of amateur athletes, and try to determine whether the criteria applied for the general population or for athletes' ECGs should be implemented in this group. In 40 amateur male marathon runners, 3 consecutive 12-lead ECGs were performed: 2-3 weeks before (stage 1), just after the run (stage 2) and 2-3 weeks after the marathon (stage 3). Resting (stage 1) and exercise (stage 2) ECGs were analyzed following the refined criteria for the assessment of athlete's ECG (changes classified as training-related, borderline or training-unrelated). In resting ECGs, at least 1 abnormality was found in 92.5% of the subjects and the most common was sinus bradycardia (62.5%). In post-exercise ECGs, at least 1 abnormality was present in 77.5% of the subjects and the most common was right atrium enlargement (RAE) (42.5%). Training-related ECG variants were more frequent at rest (82.5% vs 42.5%; p = 0.0008), while borderline variants - after the run (22.5% vs 57.5%; p = 0.0004). Training-unrelated abnormalities were found in 15% and 10% of the subjects, respectively (p-value - nonsignificant), and the most common was T-wave inversion. Even if the refined criteria rather than the criteria used for normal sedentary population were applied, the vast majority of amateur runners showed at least 1 abnormality in resting ECGs, which were mainly training-related variants. However, at rest, in 15% of the subjects, pathologic training-unrelated abnormalities were found. The most frequent post-exercise abnormality was right atrial enlargement. General electrocardiographic screening in amateur athletes should be taken into consideration.

Quantitative genetic analysis of anxiety trait in bipolar disorder.

PubMed

Contreras, J; Hare, E; Chavarría, G; Raventós, H

2018-01-01

Bipolar disorder type I (BPI) affects approximately 1% of the world population. Although genetic influences on bipolar disorder are well established, identification of genes that predispose to the illness has been difficult. Most genetic studies are based on categorical diagnosis. One strategy to overcome this obstacle is the use of quantitative endophenotypes, as has been done for other medical disorders. We studied 619 individuals, 568 participants from 61 extended families and 51 unrelated healthy controls. The sample was 55% female and had a mean age of 43.25 (SD 13.90; range 18-78). Heritability and genetic correlation of the trait scale from the Anxiety State and Trait Inventory (STAI) was computed by using the general linear model (SOLAR package software). we observed that anxiety trait meets the following criteria for an endophenotype of bipolar disorder type I (BPI): 1) association with BPI (individuals with BPI showed the highest trait score (F = 15.20 [5,24], p = 0.009), 2) state-independence confirmed after conducting a test-retest in 321 subjects, 3) co-segregation within families 4) heritability of 0.70 (SE: 0.060), p = 2.33 × 10 -14 and 5) genetic correlation with BPI was 0.20, (SE = 0.17, p = 3.12 × 10 -5 ). Confounding factors such as comorbid disorders and pharmacological treatment could affect the clinical relationship between BPI and anxiety trait. Further research is needed to evaluate if anxiety traits are specially related to BPI in comparison with other traits such as anger, attention or response inhibition deficit, pathological impulsivity or low self-directedness. Anxiety trait is a heritable phenotype that follows a normal distribution when measured not only in subjects with BPI but also in unrelated healthy controls. It could be used as an endophenotype in BPI for the identification of genomic regions with susceptibility genes for this disorder. Published by Elsevier B.V.

Income inequality, poverty and crime across nations.

PubMed

Pare, Paul-Philippe; Felson, Richard

2014-09-01

We examine the relationship between income inequality, poverty, and different types of crime. Our results are consistent with recent research in showing that inequality is unrelated to homicide rates when poverty is controlled. In our multi-level analyses of the International Crime Victimization Survey we find that inequality is unrelated to assault, robbery, burglary, and theft when poverty is controlled. We argue that there are also theoretical reasons to doubt that the level of income inequality of a country affects the likelihood of criminal behaviour. © London School of Economics and Political Science 2014.

Incidence and risk factors of HPV-related and HPV-unrelated Head and Neck Squamous Cell Carcinoma in HIV-infected individuals.

PubMed

Beachler, Daniel C; Abraham, Alison G; Silverberg, Michael J; Jing, Yuezhou; Fakhry, Carole; Gill, M John; Dubrow, Robert; Kitahata, Mari M; Klein, Marina B; Burchell, Ann N; Korthuis, P Todd; Moore, Richard D; D'Souza, Gypsyamber

2014-12-01

To examine the risk and trends of HPV-related and HPV-unrelated Head and Neck Squamous Cell Carcinoma (HNSCC) in HIV-infected individuals and assess whether immunosuppression (measured through CD4 cell count) and other risk factors impact HNSCC risk. Incident HNSCCs at HPV-related and HPV-unrelated anatomic sites were detected in HIV-infected participants from pooled data from 17 prospective studies in the North American AIDS Cohort Collaboration on Research and Design (NA-ACCORD) between 1996 and 2009. HNSCC cases were validated using chart review or cancer registry matching. Risk factors for incident HPV-related and HPV-unrelated HNSCC were explored using mixed effects Poisson regression in a full prospective analysis, and the effect of CD4 prior to cancer diagnosis was examined in a nested case control analysis. 66 HPV-related and 182 HPV-unrelated incident HNSCCs were detected among 82,375 HIV-infected participants. Standardized incidence ratios (SIRs) for both HPV-related (SIR=3.2, 95%CI=2.5-3.4) and HPV-unrelated (SIR=3.0, 95%CI=2.5-4.1) HNSCC were significantly elevated in HIV-infected individuals compared with the US general population. Between 1996 and 2009, the age-standardized HPV-related HNSCC incidence increased non-significantly from 6.8 to 11.4per 100,000 person-years (p-trend=0.31) while the age-standardized incidence of HPV-unrelated HNSCC decreased non-significantly from 41.9 to 29.3 per 100,000 person-years (p-trend=0.16). Lower CD4 cell count prior to cancer diagnosis was significantly associated with increased HPV-related and HPV-unrelated HNSCC risk. The standardized incidence of HPV-related and HPV-unrelated HNSCC are both elevated in HIV-infected individuals. Immunosuppression may have a role in the development of both HPV-related and HPV-unrelated HNSCC. Copyright © 2014 Elsevier Ltd. All rights reserved.

Priming production: Neural evidence for enhanced automatic semantic activity preceding language production in schizophrenia.

PubMed

Kuperberg, Gina R; Delaney-Busch, Nathaniel; Fanucci, Kristina; Blackford, Trevor

2018-01-01

Lexico-semantic disturbances are considered central to schizophrenia. Clinically, their clearest manifestation is in language production. However, most studies probing their underlying mechanisms have used comprehension or categorization tasks. Here, we probed automatic semantic activity prior to language production in schizophrenia using event-related potentials (ERPs). 19 people with schizophrenia and 16 demographically-matched healthy controls named target pictures that were very quickly preceded by masked prime words. To probe automatic semantic activity prior to production, we measured the N400 ERP component evoked by these targets. To determine the origin of any automatic semantic abnormalities, we manipulated the type of relationship between prime and target such that they overlapped in (a) their semantic features (semantically related, e.g. "cake" preceding a < picture of a pie >, (b) their initial phonemes (phonemically related, e.g. "stomach" preceding a < picture of a starfish >), or (c) both their semantic features and their orthographic/phonological word form (identity related, e.g. "socks" preceding a < picture of socks >). For each of these three types of relationship, the same targets were paired with unrelated prime words (counterbalanced across lists). We contrasted ERPs and naming times to each type of related target with its corresponding unrelated target. People with schizophrenia showed abnormal N400 modulation prior to naming identity related (versus unrelated) targets: whereas healthy control participants produced a smaller amplitude N400 to identity related than unrelated targets, patients showed the opposite pattern, producing a larger N400 to identity related than unrelated targets. This abnormality was specific to the identity related targets. Just like healthy control participants, people with schizophrenia produced a smaller N400 to semantically related than to unrelated targets, and showed no difference in the N400 evoked by phonemically related and unrelated targets. There were no differences between the two groups in the pattern of naming times across conditions. People with schizophrenia can show abnormal neural activity associated with automatic semantic processing prior to language production. The specificity of this abnormality to the identity related targets suggests that that, rather than arising from abnormalities of either semantic features or lexical form alone, it may stem from disruptions of mappings (connections) between the meaning of words and their form.

A Meta-Analysis of Treatments for Panic Disorder.

ERIC Educational Resources Information Center

Clum, George A.; And Others

1993-01-01

Used metanalysis to compare effectiveness of psychological and pharmacological treatments for panic disorder. Percentage of agoraphobic subjects in sample and duration of illness were unrelated to effect size (ES). Psychological coping strategies involving relaxation training, cognitive restructuring, and exposure yielded most consistent ESs;…

Tumor necrosis factor-alpha and interleukin-4 gene polymorphisms in Chinese patients with gout.

PubMed

Chen, M-L; Tsai, F-J; Tsai, C-H; Huang, C-M

2007-01-01

The purpose of this study was to examine whether polymorphisms of interleukin-4 (IL-4) (promoter-590 and intron 3) and tumor necrosis factor-alpha (TNF-alpha) promoter-308 genes are markers of susceptibility to or clinical manifestations of gout in Taiwanese patients. The study included 196 Taiwanese patients with gout and 103 unrelated healthy control subjects living in central Taiwan. Polymorphisms of the IL-4 (promoter-590 and intron 3) and TNF-alpha (promoter-308) genes were typed from genomic DNA. Allelic frequencies and carriage rates were then compared between gout patients and control subjects. The correlation between allelic frequencies, carriage rates and clinical manifestations of gout were evaluated. No significant differences were observed in the allelic frequencies and carriage rates of the IL-4 (promoter-590 and intron 3) and TNF-alpha gene polymorphisms between patients with gout and healthy control subjects. Furthermore, the IL-4 (promoter-590 and intron 3) and TNF-alpha genotypes were not found to be associated with the clinical and laboratory profiles in gout patients. However, there was a significant difference in the TNF-alphapolymorphism genotype between patients with and without hypertriglyceridemia (P=0.001, xi2=11.47, OR=10.3, 95%CI=3.57-29.7). The results of our study suggest that polymorphisms of the IL-4 (promoter-590 and intron 3) and TNF-alpha promoter-308 genes are not related to gout in Chinese patients in Taiwan.

Association of matrix metalloproteinase-7 (-181A/G) promoter polymorphism in chronic pancreatitis.

PubMed

Manjari, K Sri; Jyothy, A; Kumar, P Shravan; Prabhakar, B; Nallari, Pratibha; Venkateshwari, A

2014-11-01

Chronic pancreatitis is progressive and irreversible destruction of the pancreas. Matrix metalloproteinase-7 (MMP-7) is a secreted matrilysin, which contributes to angiogenesis and breakdown of basement membranes of pancreatic tissues. The present study was aimed to investigate the association of MMP-7 -181A/G (rs11568818) gene promoter polymorphism in patients with chronic pancreatitis. A total of 100 chronic pancreatitis patients and 150 unrelated healthy individuals were included in this case control study. The genotyping of the MMP-7 gene (- 181 A/G) (rs11568818) was carried out based on PCR-RFLP. The serum levels of MMP-7 were determined by ELISA. Association between genotypes and chronic pancreatitis was examined by odds ratio (OR) with 95% confidence interval (CI). The frequencies of the genotypes in promoter of MMP-7 were AA 49 per cent, AG 25 per cent and GG 26 per cent in chronic pancreatitis patients and AA 53 per cent, AG 38 per cent and GG 9 per cent in control subjects. Frequency of MMP-7 -181GG genotype and - 181G allele was significantly associated with chronic pancreatitis compared to healthy subjects [OR = 1.58 (95% CI: 1.06 -2.36), p =0.019]. There was no significant difference in the serum MMP-7 levels in the patients compared to control subjects. The present study revealed a significant association of MMP-7 -181A/G (rs11568818) GG genotype with chronic pancreatitis patients, indicating its possible association with the disease.

Relationship of obesity with osteoporosis

PubMed Central

Zhao, Lan-Juan; Liu, Yong-Jun; Liu, Peng-Yuan; Hamilton, James; Recker, Robert R.; Deng, Hong-Wen

2007-01-01

Context The relationship between obesity and osteoporosis has been widely studied, and epidemiological evidence shows that obesity is correlated with increased bone mass. Previous analyses, however, did not control for the mechanical loading effects of total body weight on bone mass and may have generated a confounded or even biased relationship between obesity and osteoporosis. Objective To re-evaluate the relationship between obesity and osteoporosis by accounting for the mechanical loading effects of total body weight on bone mass. Methods We measured whole body fat mass, lean mass, percentage fat mass (PFM), body mass index (BMI), and bone mass in two large samples of different ethnicity: 1,988 unrelated Chinese subjects and 4,489 Caucasian subjects from 512 pedigrees. We first evaluated the Pearson correlations among different phenotypes. We then dissected the phenotypic correlations into genetic and environmental components, with bone mass unadjusted, or adjusted, for body weight. This allowed us to compare the results with and without controlling for mechanical loading effects of body weight on bone mass. Results In both Chinese and Caucasians, when the mechanical loading effect of body weight on bone mass was adjusted for, the phenotypic correlation (including its genetic and environmental components) between fat mass (or PFM) and bone mass was negative. Further multivariate analyses in subjects stratified by body weight confirmed the inverse relationship between bone mass and fat mass, after mechanical loading effects due to total body weight was controlled. Conclusions Increasing fat mass may not have a beneficial effect on bone mass. PMID:17299077

SNP rs356219 of the α-synuclein (SNCA) gene is associated with Parkinson's disease in a Chinese Han population.

PubMed

Pan, Fenghua; Dong, Hairong; Ding, Haixia; Ye, Min; Liu, Weiguo; Wu, Yanfeng; Zhang, Xueling; Chen, Zhuoyou; Luo, Yang; Ding, Xinsheng

2012-06-01

Over the last decades, increasing knowledge about the genetic architecture of Parkinson's disease(PD) has provided novel insights into the pathogenesis of the disorder. Recently, several studies in different populations have found a strong association between idiopathic PD and the single-nucleotide polymorphism (SNP) rs356219, which is located in the 3'UTR of the SNCA gene. In this study, we aimed to verify these findings and to explore further the nature of the association in a subset of Chinese Han PD patients. Four hundred and three unrelated patients with sporadic PD and 315 healthy ethnically matched control subjects were recruited consecutively for the study. Patients and normal controls were genotyped for SNCA rs356219 variant by ligase detection reaction (LDR). A statistically significant difference was found in the frequencies of the single alleles of rs356219 (χ(2) = 12.986,P = 0.002) between PD patients and normal subjects. The distribution of A > G genotypes was different between patients and controls (χ(2) = 13.243, P < 0.001). The OR for subjects with the variant genotypes (AG and GG) was 1.88 (95%CI = 1.27-2.78, P = 0.001). The frequencies of the homozygous genotype for this variant was 42.2% (170 patients), which was significantly higher than that in controls (32.4%, P < 0.001). The results suggested that SNCA rs356219 variant might have an increased risk of susceptibility to PD in a Chinese Han population. Further studies are needed to replicate the association that we found. Copyright © 2012 Elsevier Ltd. All rights reserved.

The long hold: Storing data at the National Archives

NASA Technical Reports Server (NTRS)

Thibodeau, Kenneth

1991-01-01

A description of the information collection and storage needs of the National Archives and Records Administration (NARA) is presented. The unique situation of NARA is detailed. Two aspects which make the issue of obsolescence especially complex and costly are dealing with incoherent data and satisfying unknown and unknowable requirements. The data is incoherent because it comes from a wide range of independent sources, covers unrelated subjects, and is organized and encoded in ways that are not only not controlled but often unknown until received. NARA's mission to preserve and provide access to records with enduring value makes NARA, in effect, the agent of future generations. NARA's responsibility to the future places itself is a perpetual quandary of devotion to serving needs which are unknown.

LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.

PubMed

Sensi, Alberto; Ceruti, Stefano; Trevisi, Patrizia; Gualandi, Francesca; Busi, Micol; Donati, Ilaria; Neri, Marcella; Ferlini, Alessandra; Martini, Alessandro

2011-05-01

We report on the first cases of FGF3 compound heterozygotes in two European families from non-consanguineous marriages, affected with labyrinthine aplasia, microtia, and microdontia (LAMM) Syndrome. Three not previously described mutations (p.W153VfsX51, p.Y106C, and p.Y49C) and a recurrent one (p.R104X) were found. Analysis of 50 unrelated control subjects (100 chromosomes) of the same European background did not show any of the two newly reported missense variations. We confirm the absence of otodental syndrome in heterozygous carriers, but report unilateral microtia in one of them. We also report on the involvement of the middle ear structures in LAMM Syndrome. Copyright © 2011 Wiley-Liss, Inc.

GH response to intravenous clonidine challenge correlates with history of childhood trauma in personality disorder.

PubMed

Lee, Royce J; Fanning, Jennifer R; Coccaro, Emil F

2016-05-01

Childhood trauma is a risk factor for personality disorder. We have previously shown that childhood trauma is associated with increased central corticotrophin-releasing hormone concentration in adults with personality disorder. In the brain, the release of corticotrophin-releasing hormone can be stimulated by noradrenergic neuronal activity, raising the possibility that childhood trauma may affect the hypothalamic-pituitary adrenal (HPA) axis by altering brain noradrenergic function. In this study, we sought to test the hypothesis that childhood trauma is associated with blunted growth hormone response to the α-2 adrenergic autoreceptor agonist clonidine. All subjects provided written informed consent. Twenty personality disordered and twenty healthy controls (without personality disorder or Axis I psychopathology) underwent challenge with clonidine, while plasma Growth Hormone (GH) concentration was monitored by intravenous catheter. On a different study session, subjects completed the Childhood Trauma Questionnaire and underwent diagnostic interviews. Contrary to our a priori hypothesis, childhood trauma was associated with enhanced GH response to clonidine. This positive relationship was present in the group of 40 subjects and in the subgroup 20 personality disordered subjects, but was not detected in the healthy control subjects when analyzed separately. The presence of personality disorder was unrelated to the magnitude of GH response. Childhood trauma is positively correlated with GH response to clonidine challenge in adults with personality disorder. Enhanced rather that blunted GH response differentiates childhood trauma from previously identified negative predictors of GH response, such as anxiety or mood disorder. Copyright © 2016 Elsevier Ltd. All rights reserved.

A Test of the Discrimination Account in Equivalence Class Formation

ERIC Educational Resources Information Center

Wang, Ting; McHugh, Louise A.; Whelan, Robert

2012-01-01

An equivalence class is typically established when a subject is taught a set of interrelated conditional discriminations with physically unrelated stimuli and additional, untaught, conditional discriminations are then demonstrated. Interestingly, and perhaps counter-intuitively, the relations among the stimuli within such a class are not…

Controlling the stream of thought: working memory capacity predicts adjustment of mind-wandering to situational demands.

PubMed

Rummel, Jan; Boywitt, C Dennis

2014-10-01

Although engaging in task-unrelated thoughts can be enjoyable and functional under certain circumstances, allowing one's mind to wander off-task will come at a cost to performance in many situations. Given that task-unrelated thoughts need to be blocked out when the current task requires full attention, it has been argued that cognitive control is necessary to prevent mind-wandering from becoming maladaptive. Extending this idea, we exposed participants to tasks of different demands and assessed mind-wandering via thought probes. Employing a latent-change model, we found mind-wandering to be adjusted to current task demands. As hypothesized, the degree of adjustment was predicted by working memory capacity, indicating that participants with higher working memory capacity were more flexible in their coordination of on- and off-task thoughts. Notably, the better the adjustment, the smaller performance decrements due to increased task demands were. On the basis of these findings, we argue that cognitive control does not simply allow blocking out task-unrelated thoughts but, rather, allows one to flexibly adjust mind-wandering to situational demands.

Molecular analysis of HLA-DPB1 alleles in idiopathic systemic sclerosis patients and uranium miners with systemic sclerosis.

PubMed

Rihs, H P; Conrad, K; Mehlhorn, J; May-Taube, K; Welticke, B; Frank, K H; Baur, X

1996-03-01

According to clinical mainifestation and autoantibody pattern [anti-Scl-70, anti-centromere antibodies (ACAs)], systemic sclerosis is a connective tissue disease with heterogenous subgroups. PCR-sequence-specific-oligonucleotide typing was used to study the genetic association of HLA-DPB1 alleles in 54 patients with idiopathic systemic sclerosis, 26 uranium miners with systemic sclerosis and 70 unrelated healthy control subjects. Systemic sclerosis patients with and without former employment in mines were divided into two subgroups according to their scleroderma-typical autoantibody specificities--anti-Scl-70 positive and ACA positive--and third subgroup comprising the rest. Statistical analysis revealed a significantly increased frequency of DPB1*1301(p=0.0001, corrected p=0.011) in idiopathic anti-Scl-70-positive systemic sclerosis cases when compared with unexposed controls. In the same group, we observed an enhanced frequency of DPB1*0601 and *1701 alleles. Since these three alleles carry the information for a glutamic acid residue in position 69 of DPB1, we tested the association of this residue with anti-Scl-70 expression. A strong association between anti-Scl-70 positivity in idiopathic systemic sclerosis patients and amino acid residue 69 of DPB1 was observed when compared with anti-Scl-70-negative idiopathic systemic sclerosis patients (p=0.0009) or unrelated controls (p=0.0007). ACA expression was not associated with the presence of any DPB1 allele tested. The data show that anti-Scl-70 expression in idiopathic systemic sclerosis patients is linked with DPB1*1301 whereas anti-Scl-70-positive miners do not show such a DPB1 association. Futhermore, the data indicate that glutamate 69 of DPB1 might be involved in the susceptibility to idiopathic anti-Scl-70 expression.

Constitutive heterochromatin of chromosome 1 and Duffy blood group alleles in schizophrenia

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

Kosower, N.S.; Gerad, L.; Goldstein, M.

1995-04-24

Cytogenetic analysis was carried out in unrelated schizophrenic patients, unrelated controls and patients and family members in multiplex families. The size-distribution of chromosome 1 heterochromatic region (1qH, C-band variants) among 21 unrelated schizophrenic patients was different from that found in a group of 46 controls. The patient group had 1qH variants of smaller size than the control group (P < 0.01). Incubation of phytohemagglutinin-treated blood lymphocytes with 5-azacytidine (which causes decondensation and extension of the heterochromatin) led to a lesser degree of heterochromatin decondensation in a group of patients than in the controls (7 schizophrenic, 9 controls, P < 0.01).more » The distribution of phenotypes of Duffy blood group system (whose locus is linked to the 1qH region) among 28 schizophrenic patients was also different from that in the general population. Cosegregation of schizophrenia with a 1qH (C-band) variant and Duffy blood group allele was observed in one of six multiplex families. The overall results suggest that alterations within the Duffy/1qH region are involved in schizophrenia in some cases. This region contains the locus of D5 dopamine receptor pseudogene 2 (1q21.1), which is transcribed in normal lymphocytes. 33 refs., 1 fig., 2 tabs.« less

Botulinum toxin therapy for limb dystonias.

PubMed

Yoshimura, D M; Aminoff, M J; Olney, R K

1992-03-01

We investigated the effectiveness of botulinum toxin in 17 patients with limb dystonias (10 with occupational cramps, three with idiopathic dystonia unrelated to activity, and two each with post-stroke and parkinsonian dystonia) in a placebo-controlled, blinded study. We identified affected muscles clinically and by recording the EMG from implanted wire electrodes at rest and during performance of tasks that precipitated abnormal postures. There were three injections given with graded doses of toxin (average doses, 5 to 10, 10 to 20, and 20 to 40 units per muscle) and one with placebo, in random order. Subjective improvement occurred after 53% of injections of botulinum toxin, and this was substantial in 24%. Only one patient (7%) improved after placebo injection. Subjective improvement occurred in 82% of patients with at least one dose of toxin, lasting for 1 to 4 months. Response rates were similar between clinical groups. Objective evaluation failed to demonstrate significant improvement following treatment with toxin compared with placebo. The major side effect was transient focal weakness after 53% of injections of toxin.

Evaluation of sleep quality in subjects with chronic nononcologic pain.

PubMed

Covarrubias-Gomez, Alfredo; Mendoza-Reyes, Jonathan J

2013-08-01

A survey conducted by the National Sleep Foundation found that 20% of Americans have sleep disorders and 45% experience chronic pain. Several authors evaluated the interrelationship between these functions using various instruments such the Pittsburgh Sleep Quality Index (PSQI) and identified that 34% of subjects in the general population have a poor quality of sleep, but there are few studies that assess the quality of sleep in patients with chronic pain of nonmalignant origin. We undertook this study to evaluate the quality of sleep using the PSQI in patients with chronic pain unrelated to cancer. We conducted a clinical, nonrandomized, uncontrolled, descriptive, and prospective study, applying the PSQI through a direct one-time interview to 311 subjects with chronic pain unrelated to cancer. According to the categorization of the PSQI between good and poor sleepers, 89% of the subjects were poor sleepers (n = 276). There are significant differences in pain intensity according to the categorization of the PSQI, with a higher intensity shown in the "poor sleepers" (analysis of variance [ANOVA], P = .030). Using a linear regression model to estimate the curve, a higher score is rated on the PSQI global score (ANOVA, P = .000, R(2) = .46) with the increase of the intensity of the pain. We conclude that "poor sleepers" or those who considered their sleep as "poor quality" have significantly higher pain intensity. This suggests that intensity of pain plays a role in evaluating the quality of sleep in the subjective perception of sleep and instruments that assess quality.

Glucose Intolerance, Plasma Insulin Levels, and Colon Adenomas in Japanese Men

PubMed Central

Kono, Suminori; Abe, Hiroshi; Eguchi, Hiroyuki; Shimazaki, Kae; Hatano, Ben; Hamada, Hiroaki

2001-01-01

Hyperinsulinemia may be related to colon carcinogenesis. Several studies have suggested that diabetes mellitus is related to increased risk of colon cancer. We examined cross‐sectionally the relation of fasting plasma insulin levels and glucose tolerance status to colon adenomas. In a consecutive series of 951 men undergoing total colonoscopy for a health examination at the Japan Self Defense Forces Fukuoka Hospital from April 1998 to August 1999, we identified 233 cases of colon adenomas and 497 controls with normal colonoscopy. Glucose tolerance status was determined by a 75‐g oral glucose tolerance test, and subjects were classified as normal, unpaired glucose tolerance (IGT) or non‐insulin dependent diabetes mellitus (NIDDM). Plasma insulin levels were measured after subjects had fasted overnight. Logistic regression analysis and analysis of covariance was used to control for age and obesity. While plasma insulin levels were unrelated to colon adenomas, NIDDM was associated with a significantly increased risk of colon adenomas. There was no association between IGT and colon adenomas. NIDDM was more strongly associated with proximal colon adenomas. The findings suggest that long‐term hyperinsulinemic status associated with NIDDM may increase the risk of colon adenomas, and subsequently of colon cancer. PMID:11509114

Working memory capacity does not always support future-oriented mind-wandering.

PubMed

McVay, Jennifer C; Unsworth, Nash; McMillan, Brittany D; Kane, Michael J

2013-03-01

To evaluate the claim that mind-wandering demands executive resources, and more specifically that people with better executive control will have the resources to engage in more future-oriented thought than will those with poorer executive control, we reanalyzed thought-report data from 2 independently conducted studies (J. C. McVay & M. J. Kane, 2012, Why does working memory capacity predict variation in reading comprehension? On the influence of mind wandering and executive attention, Journal of Experimental Psychology: General, Vol. 141, pp. 302-320; N. Unsworth & B. D. McMillan, in press, Mind-wandering and reading comprehension: Examining the roles of working memory capacity, interest, motivation, and topic experience, Journal of Experimental Psychology: Learning, Memory, and Cognition) on working memory capacity (WMC), mind-wandering, and reading comprehension. Both of these individual-differences studies assessed large samples of university subjects' WMC abilities via multiple tasks and probed their immediate thought content while reading; in reporting any task-unrelated thoughts (TUTs), subjects indicated whether those thoughts were about the future or the past, if applicable. In contrast to previously published findings indicating that higher WMC subjects mind-wandered about the future more than did lower WMC subjects (B. Baird, J. Smallwood, & J. W. Schooler, 2011, Back to the future: Autobiographical planning and the functionality of mind-wandering, Consciousness and Cognition, Vol. 20, pp. 1604-1611), we found only weak to modest negative correlations between WMC and future-oriented TUTs. If anything, our findings suggest that higher WMC subjects' TUTs were somewhat less often future-oriented than were lower WMC subjects'. Either WMC is not truly associated with mind-wandering about the future, or we have identified some important boundary conditions around that association.

Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

PubMed Central

Berkovic, Samuel F.; Dibbens, Leanne M.; Oshlack, Alicia; Silver, Jeremy D.; Katerelos, Marina; Vears, Danya F.; Lüllmann-Rauch, Renate; Blanz, Judith; Zhang, Ke Wei; Stankovich, Jim; Kalnins, Renate M.; Dowling, John P.; Andermann, Eva; Andermann, Frederick; Faldini, Enrico; D'Hooge, Rudi; Vadlamudi, Lata; Macdonell, Richard A.; Hodgson, Bree L.; Bayly, Marta A.; Savige, Judy; Mulley, John C.; Smyth, Gordon K.; Power, David A.; Saftig, Paul; Bahlo, Melanie

2008-01-01

Action myoclonus-renal failure syndrome (AMRF) is an autosomal-recessive disorder with the remarkable combination of focal glomerulosclerosis, frequently with glomerular collapse, and progressive myoclonus epilepsy associated with storage material in the brain. Here, we employed a novel combination of molecular strategies to find the responsible gene and show its effects in an animal model. Utilizing only three unrelated affected individuals and their relatives, we used homozygosity mapping with single-nucleotide polymorphism chips to localize AMRF. We then used microarray-expression analysis to prioritize candidates prior to sequencing. The disorder was mapped to 4q13-21, and microarray-expression analysis identified SCARB2/Limp2, which encodes a lysosomal-membrane protein, as the likely candidate. Mutations in SCARB2/Limp2 were found in all three families used for mapping and subsequently confirmed in two other unrelated AMRF families. The mutations were associated with lack of SCARB2 protein. Reanalysis of an existing Limp2 knockout mouse showed intracellular inclusions in cerebral and cerebellar cortex, and the kidneys showed subtle glomerular changes. This study highlights that recessive genes can be identified with a very small number of subjects. The ancestral lysosomal-membrane protein SCARB2/LIMP-2 is responsible for AMRF. The heterogeneous pathology in the kidney and brain suggests that SCARB2/Limp2 has pleiotropic effects that may be relevant to understanding the pathogenesis of other forms of glomerulosclerosis or collapse and myoclonic epilepsies. PMID:18308289

Genome-wide association and replication studies identified TRHR as an important gene for lean body mass.

PubMed

Liu, Xiao-Gang; Tan, Li-Jun; Lei, Shu-Feng; Liu, Yong-Jun; Shen, Hui; Wang, Liang; Yan, Han; Guo, Yan-Fang; Xiong, Dong-Hai; Chen, Xiang-Ding; Pan, Feng; Yang, Tie-Lin; Zhang, Yin-Ping; Guo, Yan; Tang, Nelson L; Zhu, Xue-Zhen; Deng, Hong-Yi; Levy, Shawn; Recker, Robert R; Papasian, Christopher J; Deng, Hong-Wen

2009-03-01

Low lean body mass (LBM) is related to a series of health problems, such as osteoporotic fracture and sarcopenia. Here we report a genome-wide association (GWA) study on LBM variation, by using Affymetrix 500K single-nucleotide polymorphism (SNP) arrays. In the GWA scan, we tested 379,319 eligible SNPs in 1,000 unrelated US whites and found that two SNPs, rs16892496 (p = 7.55 x 10(-8)) and rs7832552 (p = 7.58 x 10(-8)), within the thyrotropin-releasing hormone receptor (TRHR) gene were significantly associated with LBM. Subjects carrying unfavorable genotypes at rs16892496 and rs7832552 had, on average, 2.70 and 2.55 kg lower LBM, respectively, compared to those with alternative genotypes. We replicated the significant associations in three independent samples: (1) 1488 unrelated US whites, (2) 2955 Chinese unrelated subjects, and (3) 593 nuclear families comprising 1972 US whites. Meta-analyses of the GWA scan and the replication studies yielded p values of 5.53 x 10(-9) for rs16892496 and 3.88 x 10(-10) for rs7832552. In addition, we found significant interactions between rs16892496 and polymorphisms of several other genes involved in the hypothalamic-pituitary-thyroid and the growth hormone-insulin-like growth factor-I axes. Results of this study, together with the functional relevance of TRHR in muscle metabolism, support the TRHR gene as an important gene for LBM variation.

Unrelated business income tax: an update.

PubMed

Fama, A J

1984-02-01

To meet spiraling costs, tax-exempt hospitals increasingly are operating businesses unrelated to direct patient care. Knowing which activities may be open to challenge by the Internal Revenue Service (IRS) is essential to avoid the unrelated business income (UBI) tax. Three criteria must be met for an activity to be taxable as UBI: It must constitute a trade or business; It must be regularly carried on; and It must be unrelated to the organization's exempt purpose. The Internal Revenue Code and IRS rulings clearly exclude the following areas from UBI taxation: Activities performed by unpaid volunteers (e.g., hospital auxiliaries' fund-raising dinners and bazaars and the operation of thrift stores); Operations conducted for the convenience of the organization's members, students, patients, or employees (e.g., gift shops, cafeterias, coffee shops, parking lots, lounges, vending machines, pharmaceutical sales to inpatients and emergency room outpatients, and research activities for students' benefit; The sale of merchandise that has been received by gift (e.g., flea markets, baked goods sales, book sales, and rummage sales); Investment income such as dividends, interest, annuities, royalties, certain rents, and capital gains from the sale of investment assets; Gifts or contributions made directly to the facility; and Bingo games that are conducted commercially. Areas which may be subject to UBI taxation, or in which there have been controversial or contradictory court rulings, include: Pharmaceutical sales to the public or private physicians' patients; and Laboratory services provided to private physicians for treating their patients. IRS private letter rulings, though not precedential, have excluded from UBI taxation the x-ray income from a hospital's branch facility and rental income from property leased for use as a clinic or medical office building that is substantially related to the hospital's exempt functions. Private letter rulings have subjected to UBI taxation the income for a professional standards review organization's private review activities and debt-financed income from property that is not substantially related to the organization's exempt purpose.

A Bootstrapped Approach to Multilingual Text Stream Parsing

ERIC Educational Resources Information Center

Londhe, Nikhil

2017-01-01

The ubiquitous hashtag has disruptively transformed how news stories are reported and shared across social media networks. Often, such text streams are massively multilingual with 50 different languages on an average and contain a combination of subjective user opinion, objective evolving information about the story and unrelated spam. This is in…

Young Infants Prefer Prosocial to Antisocial Others

ERIC Educational Resources Information Center

Hamlin, J. Kiley; Wynn, Karen

2011-01-01

The current study replicates and extends the finding (Hamlin, Wynn & Bloom, 2007) that infants prefer individuals who act prosocially toward unrelated third parties over those who act antisocially. Using different stimuli from those used by Hamlin et al. (2007), somewhat younger subjects, and 2 additional social scenarios, we replicated the…

Dream characteristics in a Brazilian sample: an online survey focusing on lucid dreaming

PubMed Central

Mota-Rolim, Sérgio A.; Targino, Zé H.; Souza, Bryan C.; Blanco, Wilfredo; Araujo, John F.; Ribeiro, Sidarta

2013-01-01

During sleep, humans experience the offline images and sensations that we call dreams, which are typically emotional and lacking in rational judgment of their bizarreness. However, during lucid dreaming (LD), subjects know that they are dreaming, and may control oneiric content. Dreaming and LD features have been studied in North Americans, Europeans and Asians, but not among Brazilians, the largest population in Latin America. Here we investigated dreams and LD characteristics in a Brazilian sample (n = 3,427; median age = 25 years) through an online survey. The subjects reported recalling dreams at least once a week (76%), and that dreams typically depicted actions (93%), known people (92%), sounds/voices (78%), and colored images (76%). The oneiric content was associated with plans for the upcoming days (37%), memories of the previous day (13%), or unrelated to the dreamer (30%). Nightmares usually depicted anxiety/fear (65%), being stalked (48%), or other unpleasant sensations (47%). These data corroborate Freudian notion of day residue in dreams, and suggest that dreams and nightmares are simulations of life situations that are related to our psychobiological integrity. Regarding LD, we observed that 77% of the subjects experienced LD at least once in life (44% up to 10 episodes ever), and for 48% LD subjectively lasted less than 1 min. LD frequency correlated weakly with dream recall frequency (r = 0.20, p < 0.01), and LD control was rare (29%). LD occurrence was facilitated when subjects did not need to wake up early (38%), a situation that increases rapid eye movement sleep (REMS) duration, or when subjects were under stress (30%), which increases REMS transitions into waking. These results indicate that LD is relatively ubiquitous but rare, unstable, difficult to control, and facilitated by increases in REMS duration and transitions to wake state. Together with LD incidence in USA, Europe and Asia, our data from Latin America strengthen the notion that LD is a general phenomenon of the human species. PMID:24368900

Dream characteristics in a Brazilian sample: an online survey focusing on lucid dreaming.

PubMed

Mota-Rolim, Sérgio A; Targino, Zé H; Souza, Bryan C; Blanco, Wilfredo; Araujo, John F; Ribeiro, Sidarta

2013-01-01

During sleep, humans experience the offline images and sensations that we call dreams, which are typically emotional and lacking in rational judgment of their bizarreness. However, during lucid dreaming (LD), subjects know that they are dreaming, and may control oneiric content. Dreaming and LD features have been studied in North Americans, Europeans and Asians, but not among Brazilians, the largest population in Latin America. Here we investigated dreams and LD characteristics in a Brazilian sample (n = 3,427; median age = 25 years) through an online survey. The subjects reported recalling dreams at least once a week (76%), and that dreams typically depicted actions (93%), known people (92%), sounds/voices (78%), and colored images (76%). The oneiric content was associated with plans for the upcoming days (37%), memories of the previous day (13%), or unrelated to the dreamer (30%). Nightmares usually depicted anxiety/fear (65%), being stalked (48%), or other unpleasant sensations (47%). These data corroborate Freudian notion of day residue in dreams, and suggest that dreams and nightmares are simulations of life situations that are related to our psychobiological integrity. Regarding LD, we observed that 77% of the subjects experienced LD at least once in life (44% up to 10 episodes ever), and for 48% LD subjectively lasted less than 1 min. LD frequency correlated weakly with dream recall frequency (r = 0.20, p < 0.01), and LD control was rare (29%). LD occurrence was facilitated when subjects did not need to wake up early (38%), a situation that increases rapid eye movement sleep (REMS) duration, or when subjects were under stress (30%), which increases REMS transitions into waking. These results indicate that LD is relatively ubiquitous but rare, unstable, difficult to control, and facilitated by increases in REMS duration and transitions to wake state. Together with LD incidence in USA, Europe and Asia, our data from Latin America strengthen the notion that LD is a general phenomenon of the human species.

An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.

PubMed

Petrovski, Slavé; Todd, Jamie L; Durheim, Michael T; Wang, Quanli; Chien, Jason W; Kelly, Fran L; Frankel, Courtney; Mebane, Caroline M; Ren, Zhong; Bridgers, Joshua; Urban, Thomas J; Malone, Colin D; Finlen Copeland, Ashley; Brinkley, Christie; Allen, Andrew S; O'Riordan, Thomas; McHutchison, John G; Palmer, Scott M; Goldstein, David B

2017-07-01

Idiopathic pulmonary fibrosis (IPF) is an increasingly recognized, often fatal lung disease of unknown etiology. The aim of this study was to use whole-exome sequencing to improve understanding of the genetic architecture of pulmonary fibrosis. We performed a case-control exome-wide collapsing analysis including 262 unrelated individuals with pulmonary fibrosis clinically classified as IPF according to American Thoracic Society/European Respiratory Society/Japanese Respiratory Society/Latin American Thoracic Association guidelines (81.3%), usual interstitial pneumonia secondary to autoimmune conditions (11.5%), or fibrosing nonspecific interstitial pneumonia (7.2%). The majority (87%) of case subjects reported no family history of pulmonary fibrosis. We searched 18,668 protein-coding genes for an excess of rare deleterious genetic variation using whole-exome sequence data from 262 case subjects with pulmonary fibrosis and 4,141 control subjects drawn from among a set of individuals of European ancestry. Comparing genetic variation across 18,668 protein-coding genes, we found a study-wide significant (P < 4.5 × 10 -7 ) case enrichment of qualifying variants in TERT, RTEL1, and PARN. A model qualifying ultrarare, deleterious, nonsynonymous variants implicated TERT and RTEL1, and a model specifically qualifying loss-of-function variants implicated RTEL1 and PARN. A subanalysis of 186 case subjects with sporadic IPF confirmed TERT, RTEL1, and PARN as study-wide significant contributors to sporadic IPF. Collectively, 11.3% of case subjects with sporadic IPF carried a qualifying variant in one of these three genes compared with the 0.3% carrier rate observed among control subjects (odds ratio, 47.7; 95% confidence interval, 21.5-111.6; P = 5.5 × 10 -22 ). We identified TERT, RTEL1, and PARN-three telomere-related genes previously implicated in familial pulmonary fibrosis-as significant contributors to sporadic IPF. These results support the idea that telomere dysfunction is involved in IPF pathogenesis.

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.

PubMed

Cheng, Fu Bo; Ozelius, Laurie J; Wan, Xin Hua; Feng, Jia Chun; Ma, Ling Yan; Yang, Ying Mai; Wang, Lin

2012-02-01

Mutations in the THAP1 gene were recently identified as the cause of DYT6 primary dystonia. More than 40 mutations in this gene have been described in different populations. However, no previous report has identified sequence variations that affect the transcript process of the THAP1 gene. In addition, the mutation frequency in Chinese early-onset primary dystonia has not been well characterized. One hundred and two unrelated patients with non-DYT1 early-onset primary dystonia (age at onset <26 years), family members of participants with mutations, and 200 neurologically normal controls were screened for THAP1 gene mutations. The effects of the identified mutations on RNA expression were analyzed using semi-quantitative real-time PCR. Seven sequence variants (c.63_66del TTTC, c.161G>T, c.224A>T, c.267G>A, c.339T>C, c.449A>C, and c.539T>C) were identified in this group of patients (6.9%). In this cohort, 15 subjects (seven unrelated patients and eight family members) were detected to have THAP1 sequence variants. Among these 15 subjects, 11 were manifested (penetrance of DYT6 was 73.3%) and seven presented with craniocervical involvement (63.6%). However, one patient manifested paroxysmal headshake, and one presented with essential hand tremor. Semi-quantitative real-time PCR indicated that a novel silent mutation (c.267G>A) decreased the expression of THAP1 in human lymphocytes. Our findings indicated that THAP1 sequence variants are not common in non-DYT1 early-onset primary dystonia in China and that the clinical manifestation may vary. One silent mutation (c.267G>A) was shown to affect THAP1 expression.

The Mediating Roles of Primary and Secondary Control in the Relationship between Body Satisfaction and Subjective Well-Being Among Middle-Aged and Older Women.

PubMed

Watt, Ashli D; Konnert, Candace A; Speirs, Calandra E C

2017-07-01

This study examined primary and secondary control as mediators in the relationship between body satisfaction and subjective well-being (SWB) and explored age differences in the mediation model. Data from 362 women, aged 40-91 years, assessed (i) the relationships between body satisfaction, age, primary and secondary control strategies (body-specific social comparison, acceptance, and positive reappraisal), and three indices of SWB (positive affect, negative affect, and life satisfaction), (ii) the mediation effects of primary and secondary control on the relationship between body satisfaction and SWB, and (iii) whether mediational relationships were moderated by age. Body satisfaction was unrelated to age but positively related to positive affect and life satisfaction and negatively related to negative affect. Body satisfaction was also related to primary and secondary control strategies. There were significant indirect (mediated) effects of body satisfaction on all outcome variables through acceptance and positive reappraisal. These mediators were significant at all age levels, but exerted their strongest influence among younger women. This study provides new information about the mechanisms that influence the relationship between body satisfaction and SWB among a broad age range of women who are experiencing physical changes that are inconsistent with Western beauty standards. © The Author 2015. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

A high-density association screen of 155 ion transport genes for involvement with common migraine

PubMed Central

Nyholt, Dale R.; LaForge, K. Steven; Kallela, Mikko; Alakurtti, Kirsi; Anttila, Verneri; Färkkilä, Markus; Hämaläinen, Eija; Kaprio, Jaakko; Kaunisto, Mari A.; Heath, Andrew C.; Montgomery, Grant W.; Göbel, Hartmut; Todt, Unda; Ferrari, Michel D.; Launer, Lenore J.; Frants, Rune R.; Terwindt, Gisela M.; de Vries, Boukje; Verschuren, W.M. Monique; Brand, Jan; Freilinger, Tobias; Pfaffenrath, Volker; Straube, Andreas; Ballinger, Dennis G.; Zhan, Yiping; Daly, Mark J.; Cox, David R.; Dichgans, Martin; van den Maagdenberg, Arn M.J.M.; Kubisch, Christian; Martin, Nicholas G.; Wessman, Maija; Peltonen, Leena; Palotie, Aarno

2008-01-01

The clinical overlap between monogenic Familial Hemiplegic Migraine (FHM) and common migraine subtypes, and the fact that all three FHM genes are involved in the transport of ions, suggest that ion transport genes may underlie susceptibility to common forms of migraine. To test this leading hypothesis, we examined common variation in 155 ion transport genes using 5257 single nucleotide polymorphisms (SNPs) in a Finnish sample of 841 unrelated migraine with aura cases and 884 unrelated non-migraine controls. The top signals were then tested for replication in four independent migraine case–control samples from the Netherlands, Germany and Australia, totalling 2835 unrelated migraine cases and 2740 unrelated controls. SNPs within 12 genes (KCNB2, KCNQ3, CLIC5, ATP2C2, CACNA1E, CACNB2, KCNE2, KCNK12, KCNK2, KCNS3, SCN5A and SCN9A) with promising nominal association (0.00041 < P < 0.005) in the Finnish sample were selected for replication. Although no variant remained significant after adjusting for multiple testing nor produced consistent evidence for association across all cohorts, a significant epistatic interaction between KCNB2 SNP rs1431656 (chromosome 8q13.3) and CACNB2 SNP rs7076100 (chromosome 10p12.33) (pointwise P = 0.00002; global P = 0.02) was observed in the Finnish case–control sample. We conclude that common variants of moderate effect size in ion transport genes do not play a major role in susceptibility to common migraine within these European populations, although there is some evidence for epistatic interaction between potassium and calcium channel genes, KCNB2 and CACNB2. Multiple rare variants or trans-regulatory elements of these genes are not ruled out. PMID:18676988

Gene Expression Profiles from Disease Discordant Twins Suggest Shared Antiviral Pathways and Viral Exposures among Multiple Systemic Autoimmune Diseases.

PubMed

Gan, Lu; O'Hanlon, Terrance P; Lai, Zhennan; Fannin, Rick; Weller, Melodie L; Rider, Lisa G; Chiorini, John A; Miller, Frederick W

2015-01-01

Viral agents are of interest as possible autoimmune triggers due to prior reported associations and widely studied molecular mechanisms of antiviral immune responses in autoimmunity. Here we examined new viral candidates for the initiation and/or promotion of systemic autoimmune diseases (SAID), as well as possible related signaling pathways shared in the pathogenesis of those disorders. RNA isolated from peripheral blood samples from 33 twins discordant for SAID and 33 matched, unrelated healthy controls was analyzed using a custom viral-human gene microarray. Paired comparisons were made among three study groups-probands with SAID, their unaffected twins, and matched, unrelated healthy controls-using statistical and molecular pathway analyses. Probands and unaffected twins differed significantly in the expression of 537 human genes, and 107 of those were associated with viral infections. These 537 differentially expressed human genes participate in overlapping networks of several canonical, biologic pathways relating to antiviral responses and inflammation. Moreover, certain viral genes were expressed at higher levels in probands compared to either unaffected twins or unrelated, healthy controls. Interestingly, viral gene expression levels in unaffected twins appeared intermediate between those of probands and the matched, unrelated healthy controls. Of the viruses with overexpressed viral genes, herpes simplex virus-2 (HSV-2) was the only human viral pathogen identified using four distinct oligonucleotide probes corresponding to three HSV-2 genes associated with different stages of viral infection. Although the effects from immunosuppressive therapy on viral gene expression remain unclear, this exploratory study suggests a new approach to evaluate shared viral agents and antiviral immune responses that may be involved in the development of SAID.

Visual naming deficits in dyslexia: An ERP investigation of different processing domains.

PubMed

Araújo, Susana; Faísca, Luís; Reis, Alexandra; Marques, J Frederico; Petersson, Karl Magnus

2016-10-01

Naming speed deficits are well documented in developmental dyslexia, expressed by slower naming times and more errors in response to familiar items. Here we used event-related potentials (ERPs) to examine at what processing level the deficits in dyslexia emerge during a discrete-naming task. Dyslexic and skilled adult control readers performed a primed object-naming task, in which the relationship between the prime and the target was manipulated along perceptual, semantic and phonological dimensions. A 3×2 design that crossed Relationship Type (Visual, Phonemic Onset, and Semantic) with Relatedness (Related and Unrelated) was used. An attenuated N/P190 - indexing early visual processing - and N300 - which index late visual processing - was observed to pictures preceded by perceptually related (vs. unrelated) primes in the control but not in the dyslexic group. These findings suggest suboptimal processing in early stages of object processing in dyslexia, when integration and mapping of perceptual information to a more form-specific percept in memory take place. On the other hand, both groups showed an N400 effect associated with semantically related pictures (vs. unrelated), taken to reflect intact integration of semantic similarities in both dyslexic and control readers. We also found an electrophysiological effect of phonological priming in the N400 range - that is, an attenuated N400 to objects preceded by phonemic related primes vs. unrelated - while it showed a more widespread distributed and more pronounced over the right hemisphere in the dyslexics. Topographic differences between groups might have originated from a word form encoding process with different characteristics in dyslexics compared to control readers. Copyright © 2016 Elsevier Ltd. All rights reserved.

Masked Morphological Priming in German-Speaking Adults and Children: Evidence from Response Time Distributions

PubMed Central

Hasenäcker, Jana; Beyersmann, Elisabeth; Schroeder, Sascha

2016-01-01

In this study, we looked at masked morphological priming effects in German children and adults beyond mean response times by taking into account response time distributions. We conducted an experiment comparing suffixed word primes (kleidchen-KLEID), suffixed nonword primes (kleidtum-KLEID), nonsuffixed nonword primes (kleidekt-KLEID), and unrelated controls (träumerei-KLEID). The pattern of priming in adults showed facilitation from suffixed words, suffixed nonwords, and nonsuffixed nonwords relative to unrelated controls, and from both suffixed conditions relative to nonsuffixed nonwords, thus providing evidence for morpho-orthographic and embedded stem priming. Children also showed facilitation from real suffixed words, suffixed nonwords, and nonsuffixed nonwords compared to unrelated words, but no difference between the suffixed and nonsuffixed conditions, thus suggesting that German elementary school children do not make use of morpho-orthographic segmentation. Interestingly, for all priming effects, a shift of the response time distribution was observed. Consequences for theories of morphological processing are discussed. PMID:27445899

Food sharing is linked to urinary oxytocin levels and bonding in related and unrelated wild chimpanzees

PubMed Central

Wittig, Roman M.; Crockford, Catherine; Deschner, Tobias; Langergraber, Kevin E.; Ziegler, Toni E.; Zuberbühler, Klaus

2014-01-01

Humans excel in cooperative exchanges between unrelated individuals. Although this trait is fundamental to the success of our species, its evolution and mechanisms are poorly understood. Other social mammals also build long-term cooperative relationships between non-kin, and recent evidence shows that oxytocin, a hormone involved in parent–offspring bonding, is likely to facilitate non-kin as well as kin bonds. In a population of wild chimpanzees, we measured urinary oxytocin levels following a rare cooperative event—food sharing. Subjects showed higher urinary oxytocin levels after single food-sharing events compared with other types of social feeding, irrespective of previous social bond levels. Also, urinary oxytocin levels following food sharing were higher than following grooming, another cooperative behaviour. Therefore, food sharing in chimpanzees may play a key role in social bonding under the influence of oxytocin. We propose that food-sharing events co-opt neurobiological mechanisms evolved to support mother–infant bonding during lactation bouts, and may act as facilitators of bonding and cooperation between unrelated individuals via the oxytocinergic system across social mammals. PMID:24430853

Deficits in free recall persist in Asperger's syndrome despite training in the use of list-appropriate learning strategies.

PubMed

Smith, Brenda J; Gardiner, John M; Bowler, Dermot M

2007-03-01

Free recall in adults with Asperger's Syndrome (AS) was compared with that in matched controls in an experiment including semantically similar, phonologically similar and unrelated word lists. Without supportive instructions, adults with AS were significantly impaired in their recall of phonologically and semantically related lists, but not unrelated lists. Even when trained to make use at study of the relations among the words, the adults with AS recalled fewer words than the control group. Participants rehearsed the study lists out loud and the rehearsal data was analysed. Despite a very slight trend for adults with AS to engage in less elaborative rehearsal and more rote rehearsal, their rehearsal did not differ significantly from that of controls.

Developmental prosopagnosia and super-recognition: no special role for surface reflectance processing.

PubMed

Russell, Richard; Chatterjee, Garga; Nakayama, Ken

2012-01-01

Face recognition by normal subjects depends in roughly equal proportions on shape and surface reflectance cues, while object recognition depends predominantly on shape cues. It is possible that developmental prosopagnosics are deficient not in their ability to recognize faces per se, but rather in their ability to use reflectance cues. Similarly, super-recognizers' exceptional ability with face recognition may be a result of superior surface reflectance perception and memory. We tested this possibility by administering tests of face perception and face recognition in which only shape or reflectance cues are available to developmental prosopagnosics, super-recognizers, and control subjects. Face recognition ability and the relative use of shape and pigmentation were unrelated in all the tests. Subjects who were better at using shape or reflectance cues were also better at using the other type of cue. These results do not support the proposal that variation in surface reflectance perception ability is the underlying cause of variation in face recognition ability. Instead, these findings support the idea that face recognition ability is related to neural circuits using representations that integrate shape and pigmentation information. Copyright © 2011 Elsevier Ltd. All rights reserved.

Physiogenomic analysis of localized FMRI brain activity in schizophrenia.

PubMed

Windemuth, Andreas; Calhoun, Vince D; Pearlson, Godfrey D; Kocherla, Mohan; Jagannathan, Kanchana; Ruaño, Gualberto

2008-06-01

The search for genetic factors associated with disease is complicated by the complexity of the biological pathways linking genotype and phenotype. This analytical complexity is particularly concerning in diseases historically lacking reliable diagnostic biological markers, such as schizophrenia and other mental disorders. We investigate the use of functional magnetic resonance imaging (fMRI) as an intermediate phenotype (endophenotype) to identify physiogenomic associations to schizophrenia. We screened 99 subjects, 30 subjects diagnosed with schizophrenia, 13 unaffected relatives of schizophrenia patients, and 56 unrelated controls, for gene polymorphisms associated with fMRI activation patterns at two locations in temporal and frontal lobes previously implied in schizophrenia. A total of 22 single nucleotide polymorphisms (SNPs) in 15 genes from the dopamine and serotonin neurotransmission pathways were genotyped in all subjects. We identified three SNPs in genes that are significantly associated with fMRI activity. SNPs of the dopamine beta-hydroxylase (DBH) gene and of the dopamine receptor D4 (DRD4) were associated with activity in the temporal and frontal lobes, respectively. One SNP of serotonin-3A receptor (HTR3A) was associated with temporal lobe activity. The results of this study support the physiogenomic analysis of neuroimaging data to discover associations between genotype and disease-related phenotypes.

Finding Words in a Language that Allows Words without Vowels

ERIC Educational Resources Information Center

El Aissati, Abder; McQueen, James M.; Cutler, Anne

2012-01-01

Across many languages from unrelated families, spoken-word recognition is subject to a constraint whereby potential word candidates must contain a vowel. This constraint minimizes competition from embedded words (e.g., in English, disfavoring "win" in "twin" because "t" cannot be a word). However, the constraint would be counter-productive in…

Conceptual Similarity Promotes Generalization of Higher Order Fear Learning

ERIC Educational Resources Information Center

Dunsmoor, Joseph E.; White, Allison J.; LaBar, Kevin S.

2011-01-01

We tested the hypothesis that conceptual similarity promotes generalization of conditioned fear. Using a sensory preconditioning procedure, three groups of subjects learned an association between two cues that were conceptually similar, unrelated, or mismatched. Next, one of the cues was paired with a shock. The other cue was then reintroduced to…

Readability and Its Effects on Reading Rate, Subjective Judgments of Comprehensibility and Comprehension.

ERIC Educational Resources Information Center

Coke, Esther U.

Prose passages read aloud or silently were rated for pronounceability and comprehensibility. The relationships of text-derived readability indices to reading rate, comprehensibility ratings and comprehension test scores were explored. Reading rate in syllables per minute was unrelated to readability. The high correlation between rate in words per…

32 CFR 634.9 - Suspension or revocation of driving or privately owned vehicle registration privileges.

Code of Federal Regulations, 2010 CFR

2010-07-01

... TRAFFIC SUPERVISION Driving Privileges § 634.9 Suspension or revocation of driving or privately owned... revocation of installation driving privileges or POV registrations, for lawful reasons unrelated to traffic... occurring on the installation or in areas subject to military traffic supervision. After a review of...

The Impact of Subjective Age and Stigma on Older Persons

ERIC Educational Resources Information Center

Ward, Russell A.

1977-01-01

This study investigated the impact of shifts in age identification by older people (N=323) from "middle-aged" to "elderly" within the context of the labeling theory of deviance. Age identification was unrelated to attitudes toward old people and the label "elderly" did not affect self-esteem through any "gate-keeping" process. (Author)

Aging and the Category-Recall Relationship.

ERIC Educational Resources Information Center

Worden, Patricia E.; Meggison, David L.

A sorting-recall procedure was used to investigate how long-term memory in elderly subjects is affected by categorical organization. Sixty-four young adults (average age 20 years) and retirees (average age 67) sorted 48 unrelated words into two, four, six, or eight categories prior to recall. High- and low-frequency lists were tested, a…

Effects of Studying to Music and Post-Study Relaxation on Reading Comprehension.

ERIC Educational Resources Information Center

Etaugh, Claire; Ptasnik, Patricia

1982-01-01

Twenty female and 20 male college students studied a passage in quiet surroundings or while listening to preferred music and then either relaxed or read unrelated material. Reading comprehension of the passage was facilitated by silent study for subjects who seldom listen to music and by poststudy relaxation. (Author)

[Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate].

PubMed

Zhang, Li; Tang, Jun-Ling; Liang, Shang-Zheng

2008-06-01

Muscle segment homeobox gene (MSX)1 has been proposed as a gene in which mutations may contribute to nonsyndromic cleft lip with or without cleft palate (NSCL/P). To study MSX1 polymorphisms in NSCL/ P by means of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP), and investigate the association of MSX1 exons 1 polymorphisms with NSCL/P. DNA were extracted from blood samples from NSCL/P and unrelated normal subjects. Genome DNA from peripheral leukocyte with these blood samples were extracted, which was used as template to amplify desired gene fragment of MSX1 exons 1 by means of polymerase chain reaction (PCR). The PCR products were examined by single-strand conformation polymorphism (SSCP). The MSX1 exons 1 polymorphisms were examined by sequencing if mutations were found. MSX1 genes of exon 1 mutation was not been found in the NSCL/P and unrelated normal subjects by SSCP. No correlation between MSX1 exon 1 and NSCL/P was found. MSX1 exon 1 may not be a key gene (susceptibility gene) in NSCL/P.

Teaching methodologies to promote creativity in the professional skills related to optics knowledge

NASA Astrophysics Data System (ADS)

Fernández-Oliveras, Alicia; Fernandez, Paz; Peña-García, Antonio; Oliveras, Maria L.

2014-07-01

We present the methodologies proposed and applied in the context of a teaching-innovation project developed at the University of Granada, Spain. The main objective of the project is the implementation of teaching methodologies that promote the creativity in the learning process and, subsequently, in the acquisition of professional skills. This project involves two subjects related with optics knowledge in undergraduate students. The subjects are "Illumination Engineering" (Bachelor's degree in Civil-Engineering) and "Optical and Optometric Instrumentation" (Bachelor's degree in and Optics and Optometry). For the first subject, the activities of our project were carried out in the theoretical classes. By contrast, in the case of the second subject, such activities were designed for the laboratory sessions. For "Illumination Engineering" we applied the maieutic technique. With this method the students were encouraged to establish relationships between the main applications of the subject and concepts that apparently unrelated with the subject framework. By means of several examples, the students became aware of the importance of cross-curricular and lateral thinking. We used the technique based on protocols of control and change in "Optical and Optometric Instrumentation". The modus operandi was focused on prompting the students to adopt the role of the professionals and to pose questions to themselves concerning the practical content of the subject from that professional role. This mechanism boosted the critical capacity and the independent-learning ability of the students. In this work, we describe in detail both subject proposals and the results of their application in the 2011-2012 academic course.

Evidence of linkage and association on chromosome 20 for late-onset Alzheimer disease.

PubMed

Goddard, Katrina A B; Olson, Jane M; Payami, Haydeh; van der Voet, Monique; Kuivaniemi, Helena; Tromp, Gerard

2004-06-01

Recently, we reported evidence of linkage on chromosome 20 for Alzheimer disease (AD) using a novel statistical approach to incorporate covariates (e.g., age, ApoE genotype) into the analysis. These results suggest that very elderly subjects (>85 years), and individuals who carry an epsilon2 allele at the ApoE locus are more likely to be linked to this candidate region. The region on chromosome 20 includes a strong candidate gene, cystatin C (CST3), which has previously been associated with AD in case-control studies. We investigated these findings further by genotyping additional markers to narrow the candidate region, and to identify evidence of linkage disequilibrium as additional support for a susceptibility locus on chromosome 20. We selected 43 elderly sibships (89 subjects) from the NIMH AD Genetics Initiative based on current age older than 84 years, and identified 129 unrelated control subjects who were older than 84 years from the Oregon Brain Aging Study to conduct linkage and association studies in this region. Fourteen additional markers were evaluated, including 4 markers located within or near CST3. We narrowed the candidate region on chromosome 20 to an 11.8-cM region between markers D20S174 and D20S471, which includes the CST3 candidate gene. In addition, we observed evidence of association for markers located near the CST3 candidate gene, with P values between 0.002 and 0.08 for two-locus haplotypes. These results support the presence of a susceptibility locus for AD in the vicinity of CST3 for very elderly subjects with AD.

Relationship between sleep and pain in adolescents with juvenile primary fibromyalgia syndrome.

PubMed

Olsen, Margaret N; Sherry, David D; Boyne, Kathleen; McCue, Rebecca; Gallagher, Paul R; Brooks, Lee J

2013-04-01

To investigate sleep quality in adolescents with juvenile primary fibromyalgia syndrome (JPFS) and determine whether sleep abnormalities, including alpha-delta sleep (ADS), correlate with pain intensity. We hypothesized that successful treatment for pain with exercise therapy would reduce ADS and improve sleep quality. Single-center preintervention and postintervention (mean = 5.7 ± 1.0 weeks; range = 4.0-7.3 weeks) observational study. Ten female adolescents (mean age = 16.2 ± 0.65 SD yr) who met criteria for JPFS and completed treatment. Multidisciplinary pain treatment, including intensive exercise therapy. Pain and disability were measured by a pain visual analog scale (VAS) and the functional disability inventory. Subjective sleep measures included a sleep VAS, an energy VAS, and the School Sleep Habits Survey. Objective sleep measures included actigraphy, polysomnography (PSG), and the Multiple Sleep Latency Test. Baseline PSG was compared with that of healthy age- and sex-matched control patients. At baseline, patients had poorer sleep efficiency, more arousals/awakenings, and more ADS (70.3% of total slow wave sleep [SWS] versus 21.9% SWS, P = 0.002) than controls. ADS was unrelated to pain, disability, or subjective sleep difficulty. After treatment, pain decreased (P = 0.000) and subjective sleep quality improved (P = 0.008). Objective sleep quality, including the amount of ADS, did not change. Although perceived sleep quality improved in adolescents with JPFS after treatment, objective measures did not. Our findings do not suggest exercise therapy for pain improves sleep by reducing ADS, nor do they support causal relationships between ADS and chronic pain or subjective sleep quality.

HLA matching in unrelated donor bone marrow transplantation.

PubMed

Charron, D J

1996-11-01

The availability of an HLA-matched sibling donor in only 30% to 35% of patients requiring allogeneic bone marrow transplantation (BMT) has led to the proposal of unrelated donors as an alternative source of bone marrow. The greater HLA incompatibility, which, although present, was undetected until recently in many unrelated donor BMT cases, has resulted in a higher rate of posttransplant complications and impaired acturial survival when compared with HLA-matched sibling BMT. Molecular HLA typing enables us to evaluate the impact of incompatibility at each locus in the outcome of unrelated donor BMT. The overall retrospective data would recommend that HLA-A, -B and -C allelic molecular matching should be implemented in addition to HLA-DR allelic matching. Further retrospective analysis is needed in order to assess which incompatibility or combinations are better tolerated than others. Only the definitive knowledge at the sequence level of the donor and the recipient HLA allelic diversity involved in controlling the allogeneic immune response will allow us to understand the precise biologic rationale of the graft-versus-host disease. Knowledge and control of the HLA incompatibilities should allow us to offset the detrimental effects of histoincompatibility while developing strategies to take advantage of the beneficial graft-versus-leukemia effect. Also the role of minor histocompatibility antigens remains largely unknown and will require careful evaluation before minor antigens can be used as a selection criterion in BMT. Carefully designed prospective studies will enable us to test the impact of each HLA locus. HLA typing and BMT represent a successful example of productive cooperation between basic and clinical sciences that should be pursued for the improvement of the clinical outcome of unrelated donor BMT.

Drifting from slow to "D'oh!": working memory capacity and mind wandering predict extreme reaction times and executive control errors.

PubMed

McVay, Jennifer C; Kane, Michael J

2012-05-01

A combined experimental, individual-differences, and thought-sampling study tested the predictions of executive attention (e.g., Engle & Kane, 2004) and coordinative binding (e.g., Oberauer, Süβ, Wilhelm, & Sander, 2007) theories of working memory capacity (WMC). We assessed 288 subjects' WMC and their performance and mind-wandering rates during a sustained-attention task; subjects completed either a go/no-go version requiring executive control over habit or a vigilance version that did not. We further combined the data with those from McVay and Kane (2009) to (1) gauge the contributions of WMC and attentional lapses to the worst performance rule and the tail, or τ parameter, of reaction time (RT) distributions; (2) assess which parameters from a quantitative evidence-accumulation RT model were predicted by WMC and mind-wandering reports; and (3) consider intrasubject RT patterns--particularly, speeding--as potential objective markers of mind wandering. We found that WMC predicted action and thought control in only some conditions, that attentional lapses (indicated by task-unrelated-thought reports and drift-rate variability in evidence accumulation) contributed to τ, performance accuracy, and WMC's association with them and that mind-wandering experiences were not predicted by trial-to-trial RT changes, and so they cannot always be inferred from objective performance measures. (c) 2012 APA, all rights reserved.

Immersion in Cold-Water Evaluation (ICE) and self-reported cold intolerance are reliable but unrelated measures.

PubMed

Traynor, Robyn; MacDermid, Joy C

2008-09-01

Intolerance to the cold is common following peripheral nerve injury and surgery of the upper extremity. Despite its prevalence, the exact pathophysiology and natural history of this condition are not well understood. Subjective, self-report questionnaires have been created and validated as reliable measures of post-traumatic cold intolerance. The difficulty currently lies in assigning an objective measure to this predominantly subjective phenomenon. The present study evaluated the test-retest reliability of a proposed objective measure of cold intolerance, the Immersion in Cold-water Evaluation (ICE), and its correlation with subjective measures in healthy control subjects. Two age groups were also compared to investigate the effect of age on cold intolerance and temperature recovery. On two separate testing days, subjects completed three health-related questionnaires and submersed their dominant hands in cold water. The temperature of their second and fifth digits was monitored during recovery. Both the objective cold-provocation testing and the subjective self-report questionnaires were highly reliable albeit not significantly correlated. No significant temperature recovery trend was noted between the age groups. Post-traumatic cold intolerance is postulated to have both a vascular and neural etiology among other contributing causes. The protocol studied here was centered predominantly on the former etiology, examining peripheral blood flow and associated temperature recovery. This study established ICE as a reliable means to objectively measure cold response, supplementing information provided by previously validated self-report methods.

Decision-making in information seeking on texts: an eye-fixation-related potentials investigation.

PubMed

Frey, Aline; Ionescu, Gelu; Lemaire, Benoit; López-Orozco, Francisco; Baccino, Thierry; Guérin-Dugué, Anne

2013-01-01

Reading on a web page is known to be not linear and people need to make fast decisions about whether they have to stop or not reading. In such context, reading, and decision-making processes are intertwined and this experiment attempts to separate them through electrophysiological patterns provided by the Eye-Fixation-Related Potentials technique (EFRPs). We conducted an experiment in which EFRPs were recorded while participants read blocks of text that were semantically highly related, moderately related, and unrelated to a given goal. Participants had to decide as fast as possible whether the text was related or not to the semantic goal given at a prior stage. Decision making (stopping information search) may occur when the paragraph is highly related to the goal (positive decision) or when it is unrelated to the goal (negative decision). EFRPs were analyzed on and around typical eye fixations: either on words belonging to the goal (target), subjected to a high rate of positive decisions, or on low frequency unrelated words (incongruent), subjected to a high rate of negative decisions. In both cases, we found EFRPs specific patterns (amplitude peaking between 51 to 120 ms after fixation onset) spreading out on the next words following the goal word and the second fixation after an incongruent word, in parietal and occipital areas. We interpreted these results as delayed late components (P3b and N400), reflecting the decision to stop information searching. Indeed, we show a clear spill-over effect showing that the effect on word N spread out on word N + 1 and N + 2.

Decision-making in information seeking on texts: an eye-fixation-related potentials investigation

PubMed Central

Frey, Aline; Ionescu, Gelu; Lemaire, Benoit; López-Orozco, Francisco; Baccino, Thierry; Guérin-Dugué, Anne

2013-01-01

Reading on a web page is known to be not linear and people need to make fast decisions about whether they have to stop or not reading. In such context, reading, and decision-making processes are intertwined and this experiment attempts to separate them through electrophysiological patterns provided by the Eye-Fixation-Related Potentials technique (EFRPs). We conducted an experiment in which EFRPs were recorded while participants read blocks of text that were semantically highly related, moderately related, and unrelated to a given goal. Participants had to decide as fast as possible whether the text was related or not to the semantic goal given at a prior stage. Decision making (stopping information search) may occur when the paragraph is highly related to the goal (positive decision) or when it is unrelated to the goal (negative decision). EFRPs were analyzed on and around typical eye fixations: either on words belonging to the goal (target), subjected to a high rate of positive decisions, or on low frequency unrelated words (incongruent), subjected to a high rate of negative decisions. In both cases, we found EFRPs specific patterns (amplitude peaking between 51 to 120 ms after fixation onset) spreading out on the next words following the goal word and the second fixation after an incongruent word, in parietal and occipital areas. We interpreted these results as delayed late components (P3b and N400), reflecting the decision to stop information searching. Indeed, we show a clear spill-over effect showing that the effect on word N spread out on word N + 1 and N + 2. PMID:23966913

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.

PubMed

Gonzalez-Rodriguez, J; Pelcastre, E L; Tovilla-Canales, J L; Garcia-Ortiz, J E; Amato-Almanza, M; Villanueva-Mendoza, C; Espinosa-Mattar, Z; Zenteno, J C

2010-08-01

Microphthalmia-anophthalmia-coloboma (MAC) are congenital eye malformations causing a significant percentage of visually impairments in children. Although these anomalies can arise from prenatal exposure to teratogens, mutations in well-defined genes originate potentially heritable forms of MAC. Mutations in genes such as CHX10, GDF6, RAX, SOX2 and OTX2, among others, have been recognised in dominant or recessive MAC. SOX2 and OTX2 are the two most commonly mutated genes in monogenic MAC. However, as more numerous samples of MAC subjects would be analysed, a better estimation of the actual involvement of specific MAC-genes could be made. Here, a comprehensive mutational analysis of the CHX10, GDF6, RAX, SOX2 and OTX2 genes was performed in 50 MAC subjects. PCR amplification and direct automated DNA sequencing of all five genes in 50 unrelated subjects. Eight mutations (16% prevalence) were recognised, including four GDF6 mutations (one novel), two novel RAX mutations, one novel OTX2 mutation and one SOX2 mutation. Anophthalmia and nanophthalmia, not previously associated with GDF6 mutations, were observed in two subjects carrying defects in this gene, expanding the spectrum of GDF6-linked ocular anomalies. Our study underscores the importance of genotyping large groups of patients from distinct ethnic origins for improving the estimation of the global involvement of particular MAC-causing genes.

Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects.

PubMed

Abdel-Malak, Camelia; Darwish, Hossam; Elsaid, Afaf; El-Tarapely, Fatma; Elshazli, Rami

2016-01-01

Colorectal cancer is a multifactorial disease that involves both environmental and genetic factors. The gene encoding adenomatous polyposis coli (APC) has been reported to be associated with colorectal cancer (CRC) risk in several ethnic populations. The aim of this work is to assess the association of the APC I1307K and E1317Q polymorphisms with CRC risk among Egyptian subjects. This study included 120 unrelated CRC Egyptian patients who were compared to 100 healthy controls from the same locality. For all subjects, DNA was genotyped for APC I1307K and E1317Q polymorphisms using the PCR-ARMS technique. The frequency of APC I1307K carrier (TA+AA genotypes) was noted to be significantly higher among cases with CRC compared to controls (18.3 vs. 9.0 %, OR 2.58, 95 % CI 1.09-6.09, p = 0.03). Also the frequency of the APC I1307K A allele was significantly higher among cases compared to controls (10.4 vs. 4.5 %, OR 2.47; 95 % CI 1.12-5.42, p = 0.03). On the contrast, the frequencies of APC E1317Q GC genotype and C allele showed no significant difference among CRC patients compared to controls (3.3 vs. 2.0 %, OR 1.69; 95 % CI 0.30-9.42, p = 0.69 and 2.1 vs. 1.0 %, OR 2.11; 95 % CI 0.40-10.97, p = 0.46, respectively). Cases of the APC I1307K and E1317Q carriers (TA+AA and GC) showed no significant difference compared to those with I1307K and E1317Q non-carriers (TT and GG) regarding their clinical and laboratory markers. APC I1307K variant was associated with an increased risk of CRC among Egyptian subjects.

BMP2 and BMP4 variations and risk of non-syndromic cleft lip and palate.

PubMed

Saket, Mitra; Saliminejad, Kioomars; Kamali, Koorosh; Moghadam, Fatemeh Aghakhani; Anvar, Nazanin Esmaeili; Khorram Khorshid, Hamid Reza

2016-12-01

Non-syndromic cleft lip with or without cleft palate (CL/P) is one of the most common congenital anomalies and arises from the interaction of environmental and genetic factors. The objective of this study was to investigate the association between the BMP2 (bone morphogenetic protein 2) and BMP4 (bone morphogenetic protein 4) polymorphisms with non-syndromic CL/P to clarify the potential role of these genes in the etiology of CL/P in Iranian population. The allelic and genotypic frequencies of BMP2 rs235768 A>T and BMP4 rs17563 T>C polymorphisms were determined in 107 unrelated Iranian subjects with non-syndromic CL/P and 186 control subjects using PCR and RFLP methods, and the results were compared with healthy controls. A p-value of <0.05 was considered statistically significant. The BMP2 rs235768 AT genotype was significantly higher (P=0.009, OR=3, 95% CI=1.3-7.0) in the CL/P (59.8%) than the control group (33.3%). Similarly, the BMP4 rs17563 TC genotype were significantly higher (P=0.008, OR=3.7, 95% CI=1.4-9.9) in the CL/P (70.0%) than the control group (44.6%). The BMP2 rs235768 A>T and BMP4 rs17563 T>C polymorphisms could be considered as the risk factor for non-syndromic CL/P in Iranian population. Copyright © 2016 Elsevier Ltd. All rights reserved.

Abnormal IgG4 antibody response to aeroallergens in allergic patients.

PubMed

Jeannin, P; Delneste, Y; Tillie-Leblond, I; Wallaert, B; carlier, A; Pestel, J; Tonnel, A B

1994-01-01

Various studies have suggested the involvement of immunoglobulin G4 (IgG4) antibodies (Ab) in the physiopathology of allergic disorders. Recently, an abnormal IgG4 Ab production in response to immunization has been reported in some atopic patients. Thus, in order to evidence in allergic patients, a potential abnormal IgG4 Ab response to aeroallergens following natural exposure, we compared, in 34 patients sensitive to Dermatophagoides pteronyssinus and in 16 healthy subjects, the IgG4 Ab response to D. pteronyssinus, grass pollen and cat dander, using a solid-phase radioimmunoassay. Since some patients were also sensitive to grass pollen and/or to cat dander, we analyzed, in all patients, the IgG4 Ab responses both towards the allergen(s) they were sensitive to (sensitizing allergen) or not (unrelated allergen). The results showed that 90% of the patients produced levels of antisensitizing allergen(s) IgG4 Ab significantly higher than the controls; this IgG4 Ab response was correlated with the corresponding specific IgE Ab level. In addition, among these patients, around 40% presented high levels of IgG4 Ab to the unrelated allergen(s). Thus, in allergic patients, while specific IgE Ab define the nature of the sensitizing allergen, the presence of IgG4 Ab directed against various allergens seems in relation with an abnormal isotype regulation associated with atopic disorders.

Semantic preview benefit during reading.

PubMed

Hohenstein, Sven; Kliegl, Reinhold

2014-01-01

Word features in parafoveal vision influence eye movements during reading. The question of whether readers extract semantic information from parafoveal words was studied in 3 experiments by using a gaze-contingent display change technique. Subjects read German sentences containing 1 of several preview words that were replaced by a target word during the saccade to the preview (boundary paradigm). In the 1st experiment the preview word was semantically related or unrelated to the target. Fixation durations on the target were shorter for semantically related than unrelated previews, consistent with a semantic preview benefit. In the 2nd experiment, half the sentences were presented following the rules of German spelling (i.e., previews and targets were printed with an initial capital letter), and the other half were presented completely in lowercase. A semantic preview benefit was obtained under both conditions. In the 3rd experiment, we introduced 2 further preview conditions, an identical word and a pronounceable nonword, while also manipulating the text contrast. Whereas the contrast had negligible effects, fixation durations on the target were reliably different for all 4 types of preview. Semantic preview benefits were greater for pretarget fixations closer to the boundary (large preview space) and, although not as consistently, for long pretarget fixation durations (long preview time). The results constrain theoretical proposals about eye movement control in reading. (PsycINFO Database Record (c) 2013 APA, all rights reserved).

Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.

PubMed

Yue, Hua; Yu, Jin-bo; He, Jin-wei; Zhang, Zeng; Fu, Wen-zhen; Zhang, Hao; Wang, Chun; Hu, Wei-wei; Gu, Jie-mei; Hu, Yun-qiu; Li, Miao; Liu, Yu-juan; Zhang, Zhen-Lin

2014-01-01

X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese families and 3 sporadic patients with hypophosphatemic rickets/osteomalacia. For this study, 45 individuals from 9 unrelated families of Chinese Han ethnicity (including 16 patients and 29 normal phenotype subjects), and 250 healthy donors were recruited. All 22 exons and exon-intron boundaries of the PHEX gene were amplified by polymerase chain reaction (PCR) and directly sequenced. The PHEX mutations were detected in 6 familial and 3 sporadic hypophosphatemic rickets/osteomalacia. Altogether, 2 novel mutations were detected: 1 missense mutation c.1183G>C in exon 11, resulting in p.Gly395Arg and 1 missense mutation c.1751A>C in exon 17, resulting in p.His584Pro. No mutations were found in the 250 healthy controls. Our study increases knowledge of the PHEX gene mutation types and clinical phenotypes found in Chinese patients with XLH, which is important for understanding the genetic basis of XLH. The molecular diagnosis of a PHEX genetic mutation is of great importance for confirming the clinical diagnosis of XLH, conducting genetic counseling, and facilitating prenatal intervention, especially in the case of sporadic patients.

Assessing the strength of cardiac and sympathetic baroreflex controls via transfer entropy during orthostatic challenge

NASA Astrophysics Data System (ADS)

Porta, Alberto; Marchi, Andrea; Bari, Vlasta; De Maria, Beatrice; Esler, Murray; Lambert, Elisabeth; Baumert, Mathias

2017-05-01

The study assesses the strength of the causal relation along baroreflex (BR) in humans during an incremental postural challenge soliciting the BR. Both cardiac BR (cBR) and sympathetic BR (sBR) were characterized via BR sequence approaches from spontaneous fluctuations of heart period (HP), systolic arterial pressure (SAP), diastolic arterial pressure (DAP) and muscle sympathetic nerve activity (MSNA). A model-based transfer entropy method was applied to quantify the strength of the coupling from SAP to HP and from DAP to MSNA. The confounding influences of respiration were accounted for. Twelve young healthy subjects (20-36 years, nine females) were sequentially tilted at 0°, 20°, 30° and 40°. We found that (i) the strength of the causal relation along the cBR increases with tilt table inclination, while that along the sBR is unrelated to it; (ii) the strength of the causal coupling is unrelated to the gain of the relation; (iii) transfer entropy indexes are significantly and positively associated with simplified causality indexes derived from BR sequence analysis. The study proves that causality indexes are complementary to traditional characterization of the BR and suggests that simple markers derived from BR sequence analysis might be fruitfully exploited to estimate causality along the BR. This article is part of the themed issue `Mathematical methods in medicine: neuroscience, cardiology and pathology'.

A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1

PubMed Central

Ozturk, A.Taylan; Adibelli, Hamit; Unal, Nurettin; Tukun, Ajlan

2013-01-01

Purpose Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1). Methods WS1 was diagnosed in a 13-month-old girl according to the WS Consortium criteria. Detailed family history of the proband revealed eight affected members in three generations. Routine clinical and audiological examination and ophthalmologic evaluation were performed on eight affected and five healthy members of the study family. Dystopia canthorum was detected in all affected patients; however, a brilliant blue iris was present in five patients who also had mild retinal hypopigmentation. Genomic DNA was extracted from the peripheral blood of affected and unaffected individuals in the family as well as 50 unrelated healthy volunteers. All coding exons and adjacent intronic regions of PAX3 were sequenced directly. Results A novel missense heterozygous c.788T>G mutation was identified in eight patients. This nucleotide alteration was not found in unaffected members of the study family or in the 50 unrelated control subjects. The mutation causes V263G amino-acid substitution in the homeodomain of the PAX3 protein, which represents the 45th residue of helix 3. Conclusions We identified a novel missense c.788T>G mutation in PAX3 in a family with Waardenburg syndrome with intrafamilial phenotypic heterogeneity. PMID:23378733

A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.

PubMed

Hazan, Filiz; Ozturk, A Taylan; Adibelli, Hamit; Unal, Nurettin; Tukun, Ajlan

2013-01-01

Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1). WS1 was diagnosed in a 13-month-old girl according to the WS Consortium criteria. Detailed family history of the proband revealed eight affected members in three generations. Routine clinical and audiological examination and ophthalmologic evaluation were performed on eight affected and five healthy members of the study family. Dystopia canthorum was detected in all affected patients; however, a brilliant blue iris was present in five patients who also had mild retinal hypopigmentation. Genomic DNA was extracted from the peripheral blood of affected and unaffected individuals in the family as well as 50 unrelated healthy volunteers. All coding exons and adjacent intronic regions of PAX3 were sequenced directly. A novel missense heterozygous c.788T>G mutation was identified in eight patients. This nucleotide alteration was not found in unaffected members of the study family or in the 50 unrelated control subjects. The mutation causes V263G amino-acid substitution in the homeodomain of the PAX3 protein, which represents the 45(th) residue of helix 3. We identified a novel missense c.788T>G mutation in PAX3 in a family with Waardenburg syndrome with intrafamilial phenotypic heterogeneity.

The effects of age, glucose ingestion and gluco-regulatory control on episodic memory.

PubMed

Riby, Leigh Martin; Meikle, Andrew; Glover, Cheryl

2004-09-01

Previous research has been inconclusive regarding the impact of glucose ingestion and gluco-regulatory control on cognitive performance in healthy older adults. The aim of this research was to determine whether glucose specifically enhanced episodic memory in an older population. In addition, the link between individual differences in glucose regulation and the magnitude of the enhancement effect was examined. A within subjects, counterbalanced, crossover design was used with 20 participants (60-80 year olds), each serving as his/her control. Episodic memory was tested by presenting unrelated paired associates followed by immediate and delayed cued recall, and delayed recognition, under single and dual task conditions. In addition, a battery of cognitive tests was administered, including tests of semantic memory, working memory and speed of processing. Glucose ingestion was found to largely facilitate performance of episodic memory. Furthermore, subsidiary analyses found that gluco-regulatory efficiency predicted episodic memory performance in both control and glucose conditions. A boost in performance after glucose ingestion was particularly seen in the episodic memory domain. Notably, strong evidence was provided for the utility of gluco-regulatory control measures as indicators of cognitive decline in the elderly.

When pupils do not understand the determinants of their success and failure in school: relations between internal, teacher and unknown perceptions of control and school achievement.

PubMed

Butler, R; Orion, R

1990-02-01

Both dispositional and attributional perspectives on perceptions of control assume that people have some idea of outcome determinants. This, however, may not always be so. This study tested the hypothesis that pupils do not always understand the determinants of their learning outcomes, and that such a sense of unknown control will be associated with poor achievement in school. The study was unusual in that it tapped both dispositional control perceptions, using the new MMPCC, and causal attributions for success and failure in a school examination. Subjects were 186 10-year-old Israeli pupils of heterogeneous SES. Results confirmed that unknown control emerged as a distinct dimension of perceived control in both dispositional and attributional measures, and was consistently associated with poor achievement in school. Attributions of test outcomes to unknown causes were strongly related to dispositional unknown control, and were not affected by success or failure. In contrast, dispositional and attributional internality were unrelated, and did not predict achievement. It is argued that internal beliefs reflect internalised social-educational norms, and as a result have less impact on motivation than perceptions of unknown control. The implications of these findings for educational practice and motivational interventions are discussed.

BASIC Programming for the Integration of Money, Demand Deposits Creation, and the Hicksian-Keynesian Model.

ERIC Educational Resources Information Center

Tom, C. F. Joseph

Money, banking, and macroeconomic textbooks traditionally present the topics of money, the creation of demand deposits by depository institutions, and the Hicksian-Keynesian Theory of Income and Interest separately, as if they were unrelated. This paper presents an integrated approach to those subjects using computer programs written in BASIC, the…

The Nature, Prevalence and Correlates of Generativity among Men in Middle Career

ERIC Educational Resources Information Center

Clark, Mike; Arnold, John

2008-01-01

Multiple methods were used to explore the character, contexts, and correlates of generativity among 41 men aged 45-55. Generativity in the role of worker was unrelated to generativity in men's roles as father, citizen and "leisurite". Individuals who were generative in their work reported greater job satisfaction and subjective career success.…

Interleukin-1beta gene polymorphisms in Taiwanese patients with gout.

PubMed

Chen, Man-Ling; Huang, Chung-Ming; Tsai, Chang-Hai; Tsai, Fuu-Jen

2005-04-01

The purpose of this study was to examine whether interleukin-1 beta (IL-1beta) promoter and exon 5 gene polymorphisms are markers of susceptibility or clinical manifestations in Taiwanese patients with gout. The study included 196 patients in addition to 103 unrelated healthy control subjects living in central Taiwan. From genomic DNA, polymorphisms of the gene for IL-1beta promoter and IL-1beta exon 5 were typed. Allelic frequencies were compared between the two groups, and the relationship between allelic frequencies and clinical manifestations of gout was evaluated. No significant differences were observed in the allelic frequencies of the IL-1beta promoter between patients with gout and healthy control subjects. Additionally, we did not detect any association of the IL-1beta promoter genotype with the clinical and laboratory profiles of gout patients. However, there was a significant difference between the two groups in terms of hypertriglyceridemia (P=0.0004, chi(2)=12.52, OR 7.14, 95%CI 0.012-0.22). There was also a significant difference in the genotype of IL-1beta exon 5 polymorphism between patients with and without hypertriglyceridemia. Results of the present study suggest that polymorphisms of the IL-1beta promoter and IL-1beta exon 5 are not related to gout patients in central Taiwan.

TAP polymorphism in patients with Behçet's disease.

PubMed Central

González-Escribano, M F; Morales, J; García-Lozano, J R; Castillo, M J; Sánchez-Román, J; Núñez-Roldán, A; Sánchez, B

1995-01-01

OBJECTIVE--To determine if susceptibility to Behçet's disease (BD) is associated with polymorphism of HLA-DRB1, HLA-DQB1, DQB1, and TAP1 and TAP2 genes. METHODS--Fifty eight Spanish BD patients and 116 ethnically matched unrelated healthy subjects were typed at the HLA-DRB1 and HLA-DQB1 loci using polymerase chain reaction/sequence specific oligotyping (PCR/SSO). TAP1 and TAP2 alleles were assigned using amplification refractory mutation system-PCR. RESULTS--TAP1C was absent in BD patients, but was found in 12.1% of control subjects (pcorr < 0.05; relative risk = 0.06). Additionally, a linkage disequilibrium between HLA-DQB1*0501 and TAP2B was observed in BD patients (delta = 0.095, pcorr < 0.02), but not in the control group (delta = -0.0031, p > 0.05). CONCLUSIONS--The complete absence of TAP1C alleles in BD patients may indicate that TAP1 polymorphism is not without some significance in the development of BD. Furthermore, the existence of a linkage disequilibrium between HLA-DQB1*0501 and TAP2B in our patients suggests that the gene conferring susceptibility for BD is inherited as an extended haplotype in the population studied. PMID:7794046

Prenatal Stress due to a Natural Disaster Predicts Adiposity in Childhood: The Iowa Flood Study

PubMed Central

Dancause, Kelsey N.; Laplante, David P.; Hart, Kimberly J.; O'Hara, Michael W.; Brunet, Alain

2015-01-01

Prenatal stress can affect lifelong physical growth, including increased obesity risk. However, human studies remain limited. Natural disasters provide models of independent stressors unrelated to confounding maternal characteristics. We assessed degree of objective hardship and subjective distress in women pregnant during severe flooding. At ages 2.5 and 4 years we assessed body mass index (BMI), subscapular plus triceps skinfolds (SS + TR, an index of total adiposity), and SS : TR ratio (an index of central adiposity) in their children (n = 106). Hierarchical regressions controlled first for several potential confounds. Controlling for these, flood exposure during early gestation predicted greater BMI increase from age 2.5 to 4, as well as total adiposity at 2.5. Greater maternal hardship and distress due to the floods, as well as other nonflood life events during pregnancy, independently predicted greater increase in total adiposity between 2.5 and 4 years. These results support the hypothesis that prenatal stress increases adiposity beginning in childhood and suggest that early gestation is a sensitive period. Results further highlight the additive effects of maternal objective and subjective stress, life events, and depression, emphasizing the importance of continued studies on multiple, detailed measures of maternal mental health and experience in pregnancy and child growth. PMID:25874124

Prenatal stress due to a natural disaster predicts adiposity in childhood: the Iowa Flood Study.

PubMed

Dancause, Kelsey N; Laplante, David P; Hart, Kimberly J; O'Hara, Michael W; Elgbeili, Guillaume; Brunet, Alain; King, Suzanne

2015-01-01

Prenatal stress can affect lifelong physical growth, including increased obesity risk. However, human studies remain limited. Natural disasters provide models of independent stressors unrelated to confounding maternal characteristics. We assessed degree of objective hardship and subjective distress in women pregnant during severe flooding. At ages 2.5 and 4 years we assessed body mass index (BMI), subscapular plus triceps skinfolds (SS + TR, an index of total adiposity), and SS : TR ratio (an index of central adiposity) in their children (n = 106). Hierarchical regressions controlled first for several potential confounds. Controlling for these, flood exposure during early gestation predicted greater BMI increase from age 2.5 to 4, as well as total adiposity at 2.5. Greater maternal hardship and distress due to the floods, as well as other nonflood life events during pregnancy, independently predicted greater increase in total adiposity between 2.5 and 4 years. These results support the hypothesis that prenatal stress increases adiposity beginning in childhood and suggest that early gestation is a sensitive period. Results further highlight the additive effects of maternal objective and subjective stress, life events, and depression, emphasizing the importance of continued studies on multiple, detailed measures of maternal mental health and experience in pregnancy and child growth.

Development of speech motor control: lip movement variability.

PubMed

Schötz, Susanne; Frid, Johan; Löfqvist, Anders

2013-06-01

This study examined variability of lip movements across repetitions of the same utterance as a function of age in Swedish speakers. The specific purpose was to extend earlier findings by examining variability in both phase and amplitude. Subjects were 50 typically developed native Swedish children and adults (28 females, 22 males, aged 5 to 31 yr). Lip movements were recorded during 15 to 20 repetitions of a short Swedish phrase using three-dimensional articulography. After correction for head movements, the kinematic records were expressed in a maxilla-based coordinate system. Movement onset and offset of the utterance were identified using kinematic landmarks. The Euclidean distance between receivers on the upper and lower lips was calculated and subjected to functional data analysis to assess both phase and amplitude variability. Results show a decrease in both indices as a function of age, with a greater reduction of amplitude variability. There was no difference between males and females for either index. The two indices were moderately correlated with each other, suggesting that they capture different aspects of speech production. Utterance duration also decreased with age, but variability was unrelated to duration. The standard deviation of utterance duration also decreased with age. The present results thus suggest that age related changes in speech motor control continue up until 30 years of age.

Female crickets assess relatedness during mate guarding and bias storage of sperm towards unrelated males.

PubMed

Tuni, C; Beveridge, M; Simmons, L W

2013-06-01

Recent evidence shows that females exert a post-copulatory fertilization bias in favour of unrelated males to avoid the genetic incompatibilities derived from inbreeding. One of the mechanisms suggested for fertilization biases in insects is female control over transport of sperm to the sperm-storage organs. We investigated post-copulatory inbreeding-avoidance mechanisms in females of the cricket Teleogryllus oceanicus. We assessed the relative contribution of related and unrelated males to the sperm stores of double-mated females. To demonstrate unequivocally that biased sperm storage results from female control rather than cryptic male choice, we manipulated the relatedness of mated males and of males performing post-copulatory mate guarding. Our results show that when guarded by a related male, females store less sperm from their actual mate, irrespective of the relatedness of the mating male. Our data support the notion that inhibition of sperm storage by female crickets can act as a form of cryptic female choice to avoid the severe negative effects of inbreeding. © 2013 The Authors. Journal of Evolutionary Biology © 2013 European Society For Evolutionary Biology.

Differential alterations of cortical glutamatergic binding sites in senile dementia of the Alzheimer type

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

Chalmers, D.T.; Dewar, D.; Graham, D.I.

1990-02-01

Involvement of cortical glutamatergic mechanisms in senile dementia of the Alzheimer type (SDAT) has been investigated with quantitative ligand-binding autoradiography. The distribution and density of Na(+)-dependent glutamate uptake sites and glutamate receptor subtypes--kainate, quisqualate, and N-methyl-D-aspartate--were measured in adjacent sections of frontal cortex obtained postmortem from six patients with SDAT and six age-matched controls. The number of senile plaques was determined in the same brain region. Binding of D-(3H)aspartate to Na(+)-dependent uptake sites was reduced by approximately 40% throughout SDAT frontal cortex relative to controls, indicating a general loss of glutamatergic presynaptic terminals. (3H)Kainate receptor binding was significantly increased bymore » approximately 70% in deep layers of SDAT frontal cortex compared with controls, whereas this binding was unaltered in superficial laminae. There was a positive correlation (r = 0.914) between kainate binding and senile plaque number in deep cortical layers. Quisqualate receptors, as assessed by 2-amino-3-hydroxy-5-(3H)methylisoxazole-4-propionic acid binding, were unaltered in SDAT frontal cortex compared with controls. There was a small reduction (25%) in N-methyl-D-aspartate-sensitive (3H)glutamate binding only in superficial cortical layers of SDAT brains relative to control subjects. (3H)Glutamate binding in SDAT subjects was unrelated to senile plaque number in superficial cortical layers (r = 0.104). These results indicate that in the presence of cortical glutamatergic terminal loss in SDAT plastic alterations occur in some glutamate receptor subtypes but not in others.« less

A study on the trinucleotide repeat associated with Huntington`s disease in the Chinese

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

Bing-wen Soong; Jih-tsuu Wang

1994-09-01

Analysis of the polymorphic (CAG)n repeat in the hungingtin gene in the chinese confirmed the presence of an expanded repeat on all Huntington`s disease chromosomes. Measurement of the specific CAG repeat sequence in 34 HD chromosomes from 15 unrelated families and 190 control chromosomes from the Chinese population showed a range from 9 to 29 repeats in normal subjects and 40 to 58 in affected subjects. The size distributions of normal and affected alleles did not overlap. A clear correlation bewteen early onset of symptoms and very high repeat number was seen, but the spread of the age-at-onset in themore » major repeat range producing characteristic HD it too wide to be of diagnostic value. There was also variability in the transmitted repeat size for both sexes in the HD size range. Maternal HD alleles showed a moderate instability with a preponderance of size decrease, while paternal HD alleles had a tendency to increase in repeat size on transmission, the degree of which appeared proportional to the initial size.« less

Gene Expression Profiles from Disease Discordant Twins Suggest Shared Antiviral Pathways and Viral Exposures among Multiple Systemic Autoimmune Diseases

PubMed Central

Gan, Lu; O’Hanlon, Terrance P.; Lai, Zhennan; Fannin, Rick; Weller, Melodie L.; Rider, Lisa G.; Chiorini, John A.; Miller, Frederick W.

2015-01-01

Viral agents are of interest as possible autoimmune triggers due to prior reported associations and widely studied molecular mechanisms of antiviral immune responses in autoimmunity. Here we examined new viral candidates for the initiation and/or promotion of systemic autoimmune diseases (SAID), as well as possible related signaling pathways shared in the pathogenesis of those disorders. RNA isolated from peripheral blood samples from 33 twins discordant for SAID and 33 matched, unrelated healthy controls was analyzed using a custom viral-human gene microarray. Paired comparisons were made among three study groups—probands with SAID, their unaffected twins, and matched, unrelated healthy controls—using statistical and molecular pathway analyses. Probands and unaffected twins differed significantly in the expression of 537 human genes, and 107 of those were associated with viral infections. These 537 differentially expressed human genes participate in overlapping networks of several canonical, biologic pathways relating to antiviral responses and inflammation. Moreover, certain viral genes were expressed at higher levels in probands compared to either unaffected twins or unrelated, healthy controls. Interestingly, viral gene expression levels in unaffected twins appeared intermediate between those of probands and the matched, unrelated healthy controls. Of the viruses with overexpressed viral genes, herpes simplex virus-2 (HSV-2) was the only human viral pathogen identified using four distinct oligonucleotide probes corresponding to three HSV-2 genes associated with different stages of viral infection. Although the effects from immunosuppressive therapy on viral gene expression remain unclear, this exploratory study suggests a new approach to evaluate shared viral agents and antiviral immune responses that may be involved in the development of SAID. PMID:26556803

Personality, depression, and premorbid lifestyle in twin pairs discordant for Parkinson's disease

PubMed Central

Heberlein, I.; Ludin, H.; Scholz, J.; Vieregge, P.

1998-01-01

Present personality traits (Freiburg personality inventory, FPI-R), depression (von Zerssen's depression scale), and self assessed state of health were evaluated in 15 twin pairs (six monozygotic and nine dizygotic; mean age 62.5 years) discordant for idiopathic Parkinson's disease and in 17 unrelated healthy control subjects. The twins had additional questionnaire based interviews on premorbid lifestyle.
For disability, twins with Parkinson's disease scored lower on FPI-R than controls in "achievement orientation" and "extraversion", higher in "inhibitedness", "somatic complaints", and "emotionality". They scored higher for depression and for state of health than unaffected twins and controls. For zygosity, monozygotic twins scored lower than dizygotic twins in "achievement orientation", "aggressiveness", and "strain". Monozygotic twins had less "achievement orientation" and "extraversion" and more "somatic complaints" than controls. Monozygotic twins had a lower within pair difference than dizygotic twins in "social orientation". During premorbid times the affected twin with later Parkinson's disease was estimated to have been "less often the leader" in the twin pair.
Although small in sample size, this twin study indicates a genetic impact for some personality features beyond the Parkinson's disease motor syndrome.

 PMID:9489545

A case-control study of chronic neuropsychiatric disease and organic solvent exposure in automobile assembly plant workers.

PubMed Central

Nelson, N A; Robins, T G; White, R F; Garrison, R P

1994-01-01

A case-control study of chronic neurological and psychiatric disease and occupational exposure to solvents was carried out in eight automobile assembly plants. Cases included 299 subjects who were granted medical disability retirement in 1980-8. Two control groups were selected, the first from those granted retirement in the same period because of medical disability from causes unrelated to solvent exposure. The second included hourly employees from the plant population. In these facilities, solvent exposures tended to be short term and low level, although common: the average duration of exposure was 2.3 years; about 41% experienced at least one day of exposure. Of those exposed, 46% had less than one year of exposure. Results for all psychiatric disease combined (273 cases) suggested that cases had lower exposures than either control group, regardless of how exposure was expressed. Results could not be explained by conventional confounding exposures or characteristics or by usual manifestations of the healthy worker effect. By contrast, chronic neurological disease, and multiple sclerosis in particular, seemed to be associated with exposure, although few cases were identified and observed increases in risk were not statistically significant. PMID:8199679

Amygdala volume and verbal memory performance in schizophrenia and bipolar disorder.

PubMed

Killgore, William D S; Rosso, Isabelle M; Gruber, Staci A; Yurgelun-Todd, Deborah A

2009-03-01

To clarify the relationship between amygdala-hippocampal volume and cognitive performance in schizophrenia and bipolar disorder. Abnormalities of the amygdala-hippocampal complex and memory deficits have been reported in both schizophrenia and bipolar illness. We examined memory performance and its relationship to the volumes of the whole brain, lateral ventricles, hippocampus, and amygdala using morphometric magnetic resonance imaging in 19 patients with schizophrenia, 11 bipolar patients, and 20 healthy controls. Schizophrenia patients performed more poorly than bipolar patients and controls on indices of memory functioning, whereas patients with bipolar disorder showed milder impairments relative to controls. The schizophrenia group showed reduced total cerebral volume and enlarged ventricles relative to controls, but no group differences were found for amygdala or hippocampal volume. Left amygdala volume was predictive of memory performance in both groups, correlating positively with better immediate and delayed verbal memory for bipolar patients and negatively with immediate and delayed verbal recall for schizophrenia patients. Amygdala volume was unrelated to memory performance in healthy subjects. Schizophrenia and bipolar disorder both seem to be associated with anomalous and differential limbic volume-function relationships, such that the amygdala may facilitate hippocampal-dependent memory processes in bipolar disorder but impair these same processes in schizophrenia.

Living related versus deceased donor liver transplantation for maple syrup urine disease.

PubMed

Feier, Flavia; Schwartz, Ida Vanessa D; Benkert, Abigail R; Seda Neto, Joao; Miura, Irene; Chapchap, Paulo; da Fonseca, Eduardo Antunes; Vieira, Sandra; Zanotelli, Maria Lúcia; Pinto e Vairo, Filippo; Camelo, Jose Simon; Margutti, Ana Vitoria Barban; Mazariegos, George V; Puffenberger, Erik G; Strauss, Kevin A

2016-03-01

Maple syrup urine disease (MSUD) is an inherited disorder of branched chain ketoacid (BCKA) oxidation associated with episodic and chronic brain disease. Transplantation of liver from an unrelated deceased donor restores 9-13% whole-body BCKA oxidation capacity and stabilizes MSUD. Recent reports document encouraging short-term outcomes for MSUD patients who received a liver segment from mutation heterozygous living related donors (LRDT). To investigate effects of living related versus deceased unrelated grafts, we studied four Brazilian MSUD patients treated with LRDT who were followed for a mean 19 ± 12 postoperative months, and compared metabolic and clinical outcomes to 37 classical MSUD patients treated with deceased donor transplant. Patient and graft survival for LRDT were 100%. Three of 4 MSUD livers were successfully domino transplanted into non-MSUD subjects. Following LRDT, all subjects resumed a protein-unrestricted diet as mean plasma leucine decreased from 224 ± 306 μM to 143 ± 44 μM and allo-isoleucine decreased 91%. We observed no episodes of hyperleucinemia during 80 aggregate postoperative patient-months. Mean plasma leucine:isoleucine:valine concentration ratios were ~2:1:4 after deceased donor transplant compared to ~1:1:1.5 following LRDT, resulting in differences of predicted cerebral amino acid uptake. Mutant heterozygous liver segments effectively maintain steady-state BCAA and BCKA homeostasis on an unrestricted diet and during most catabolic states, but might have different metabolic effects than grafts from unrelated deceased donors. Neither living related nor deceased donor transplant affords complete protection from metabolic intoxication, but both strategies represent viable alternatives to nutritional management. Copyright © 2016 Elsevier Inc. All rights reserved.

The balanced mind: the variability of task-unrelated thoughts predicts error monitoring

PubMed Central

Allen, Micah; Smallwood, Jonathan; Christensen, Joanna; Gramm, Daniel; Rasmussen, Beinta; Jensen, Christian Gaden; Roepstorff, Andreas; Lutz, Antoine

2013-01-01

Self-generated thoughts unrelated to ongoing activities, also known as “mind-wandering,” make up a substantial portion of our daily lives. Reports of such task-unrelated thoughts (TUTs) predict both poor performance on demanding cognitive tasks and blood-oxygen-level-dependent (BOLD) activity in the default mode network (DMN). However, recent findings suggest that TUTs and the DMN can also facilitate metacognitive abilities and related behaviors. To further understand these relationships, we examined the influence of subjective intensity, ruminative quality, and variability of mind-wandering on response inhibition and monitoring, using the Error Awareness Task (EAT). We expected to replicate links between TUT and reduced inhibition, and explored whether variance in TUT would predict improved error monitoring, reflecting a capacity to balance between internal and external cognition. By analyzing BOLD responses to subjective probes and the EAT, we dissociated contributions of the DMN, executive, and salience networks to task performance. While both response inhibition and online TUT ratings modulated BOLD activity in the medial prefrontal cortex (mPFC) of the DMN, the former recruited a more dorsal area implying functional segregation. We further found that individual differences in mean TUTs strongly predicted EAT stop accuracy, while TUT variability specifically predicted levels of error awareness. Interestingly, we also observed co-activation of salience and default mode regions during error awareness, supporting a link between monitoring and TUTs. Altogether our results suggest that although TUT is detrimental to task performance, fluctuations in attention between self-generated and external task-related thought is a characteristic of individuals with greater metacognitive monitoring capacity. Achieving a balance between internally and externally oriented thought may thus aid individuals in optimizing their task performance. PMID:24223545

Individual Differences in Subjective Utility and Risk Preferences: The Influence of Hedonic Capacity and Trait Anxiety

PubMed Central

Howlett, Jonathon R.; Paulus, Martin P.

2017-01-01

Individual differences in decision-making are important in both normal populations and psychiatric conditions. Variability in decision-making could be mediated by different subjective utilities or by other processes. For example, while traditional economic accounts attribute risk aversion to a concave subjective utility curve, in practice other factors could affect risk behavior. This distinction may have important implications for understanding the biological basis of variability in decision-making and for developing interventions to improve decision-making. Another aspect of decision-making that may vary between individuals is the sensitivity of subjective utility to counterfactual outcomes (outcomes that could have occurred, but did not). We investigated decision-making in relation to hedonic capacity and trait anxiety, two traits that relate to psychiatric conditions but also vary in the general population. Subjects performed a decision-making task, in which they chose between low- and high-risk gambles to win 0, 20, or 40 points on each trial. Subjects then rated satisfaction after each outcome on a visual analog scale, indicating subjective utility. Hedonic capacity was positively associated with the subjective utility of winning 20 points but was not associated with the concavity of the subjective utility curve (constructed using the mean subjective utility of winning 0, 20, or 40 points). Consistent with economic theory, concavity of the subjective utility curve was associated with risk aversion. Hedonic capacity was independently associated with risk seeking (i.e., not mediated by the shape of the subjective utility curve), while trait anxiety was unrelated to risk preferences. Contrary to our expectations, counterfactual sensitivity was unrelated to hedonic capacity and trait anxiety. Nevertheless, trait anxiety was associated with a self-report measure of regret-proneness, suggesting that counterfactual influences may occur via a pathway that is separate from immediate counterfactual processing biases. Taken together, our results show that hedonic capacity but not trait anxiety affects risk-taking through a mechanism that appears independent of the shape of the subjective utility curve, while hedonic capacity and trait anxiety do not affect the influence of counterfactual outcomes on subjective utility. The results have implications for understanding the underlying mechanisms of variable decision-making and for developing interventions to improve decision-making. PMID:28588508

Individual Differences in Subjective Utility and Risk Preferences: The Influence of Hedonic Capacity and Trait Anxiety.

PubMed

Howlett, Jonathon R; Paulus, Martin P

2017-01-01

Individual differences in decision-making are important in both normal populations and psychiatric conditions. Variability in decision-making could be mediated by different subjective utilities or by other processes. For example, while traditional economic accounts attribute risk aversion to a concave subjective utility curve, in practice other factors could affect risk behavior. This distinction may have important implications for understanding the biological basis of variability in decision-making and for developing interventions to improve decision-making. Another aspect of decision-making that may vary between individuals is the sensitivity of subjective utility to counterfactual outcomes (outcomes that could have occurred, but did not). We investigated decision-making in relation to hedonic capacity and trait anxiety, two traits that relate to psychiatric conditions but also vary in the general population. Subjects performed a decision-making task, in which they chose between low- and high-risk gambles to win 0, 20, or 40 points on each trial. Subjects then rated satisfaction after each outcome on a visual analog scale, indicating subjective utility. Hedonic capacity was positively associated with the subjective utility of winning 20 points but was not associated with the concavity of the subjective utility curve (constructed using the mean subjective utility of winning 0, 20, or 40 points). Consistent with economic theory, concavity of the subjective utility curve was associated with risk aversion. Hedonic capacity was independently associated with risk seeking (i.e., not mediated by the shape of the subjective utility curve), while trait anxiety was unrelated to risk preferences. Contrary to our expectations, counterfactual sensitivity was unrelated to hedonic capacity and trait anxiety. Nevertheless, trait anxiety was associated with a self-report measure of regret-proneness, suggesting that counterfactual influences may occur via a pathway that is separate from immediate counterfactual processing biases. Taken together, our results show that hedonic capacity but not trait anxiety affects risk-taking through a mechanism that appears independent of the shape of the subjective utility curve, while hedonic capacity and trait anxiety do not affect the influence of counterfactual outcomes on subjective utility. The results have implications for understanding the underlying mechanisms of variable decision-making and for developing interventions to improve decision-making.

Spicing Things up by Adding Color and Relieving Pain: The Use of "Napoleon's Buttons" in Organic Chemistry

ERIC Educational Resources Information Center

Bucholtz, Kevin M.

2011-01-01

For some students, organic chemistry can be a distant subject and unrelated to any courses they have seen in their college careers. To develop a more contextual learning experience in organic chemistry, an additional text, "Napoleon's Buttons: 17 Molecules That Changed History," by Penny Le Couteur and Jay Burreson, was incorporated as a…

Can Victoria's Secret Change the Future? A Subjective Time Perception Account of Sexual-Cue Effects on Impatience

ERIC Educational Resources Information Center

Kim, B. Kyu; Zauberman, Gal

2013-01-01

Sexual cues influence decisions not only about sex, but also about unrelated outcomes such as money. In the presence of sexual cues, individuals are more "impatient" when making intertemporal monetary tradeoffs, choosing smaller immediate amounts over larger delayed amounts. Previous research has emphasized the power of sexual cues to induce a…

An fMRI Investigation of the Neural Correlates Underlying the Processing of Novel Metaphoric Expressions

ERIC Educational Resources Information Center

Mashal, N.; Faust, M.; Hendler, T.; Jung-Beeman, M.

2007-01-01

The neural networks associated with processing related pairs of words forming literal, novel, and conventional metaphorical expressions and unrelated pairs of words were studied in a group of 15 normal adults using fMRI. Subjects read the four types of linguistic expressions and decided which relation exists between the two words (metaphoric,…

In Vivo Readout of CFTR Function: Ratiometric Measurement of CFTR-Dependent Secretion by Individual, Identifiable Human Sweat Glands

PubMed Central

Wine, Jeffrey J.; Char, Jessica E.; Chen, Jonathan; Cho, Hyung-ju; Dunn, Colleen; Frisbee, Eric; Joo, Nam Soo; Milla, Carlos; Modlin, Sara E.; Park, Il-Ho; Thomas, Ewart A. C.; Tran, Kim V.; Verma, Rohan; Wolfe, Marlene H.

2013-01-01

To assess CFTR function in vivo, we developed a bioassay that monitors and compares CFTR-dependent and CFTR-independent sweat secretion in parallel for multiple (∼50) individual, identified glands in each subject. Sweating was stimulated by intradermally injected agonists and quantified by optically measuring spherical sweat bubbles in an oil-layer that contained dispersed, water soluble dye particles that partitioned into the sweat bubbles, making them highly visible. CFTR-independent secretion (M-sweat) was stimulated with methacholine, which binds to muscarinic receptors and elevates cytosolic calcium. CFTR-dependent secretion (C-sweat) was stimulated with a β-adrenergic cocktail that elevates cytosolic cAMP while blocking muscarinic receptors. A C-sweat/M-sweat ratio was determined on a gland-by-gland basis to compensate for differences unrelated to CFTR function, such as gland size. The average ratio provides an approximately linear readout of CFTR function: the heterozygote ratio is ∼0.5 the control ratio and for CF subjects the ratio is zero. During assay development, we measured C/M ratios in 6 healthy controls, 4 CF heterozygotes, 18 CF subjects and 4 subjects with ‘CFTR-related’ conditions. The assay discriminated all groups clearly. It also revealed consistent differences in the C/M ratio among subjects within groups. We hypothesize that these differences reflect, at least in part, levels of CFTR expression, which are known to vary widely. When C-sweat rates become very low the C/M ratio also tended to decrease; we hypothesize that this nonlinearity reflects ductal fluid absorption. We also discovered that M-sweating potentiates the subsequent C-sweat response. We then used potentiation as a surrogate for drugs that can increase CFTR-dependent secretion. This bioassay provides an additional method for assessing CFTR function in vivo, and is well suited for within-subject tests of systemic, CFTR-directed therapeutics. PMID:24204751

Urotensin-II System in Genetic Control of Blood Pressure and Renal Function

PubMed Central

Debiec, Radoslaw; Christofidou, Paraskevi; Denniff, Matthew; Bloomer, Lisa D.; Bogdanski, Pawel; Wojnar, Lukasz; Musialik, Katarzyna; Charchar, Fadi J.; Thompson, John R.; Waterworth, Dawn; Song, Kijoung; Vollenweider, Peter; Waeber, Gerard; Zukowska-Szczechowska, Ewa; Samani, Nilesh J.; Lambert, David; Tomaszewski, Maciej

2013-01-01

Urotensin-II controls ion/water homeostasis in fish and vascular tone in rodents. We hypothesised that common genetic variants in urotensin-II pathway genes are associated with human blood pressure or renal function. We performed family-based analysis of association between blood pressure, glomerular filtration and genes of the urotensin-II pathway (urotensin-II, urotensin-II related peptide, urotensin-II receptor) saturated with 28 tagging single nucleotide polymorphisms in 2024 individuals from 520 families; followed by an independent replication in 420 families and 7545 unrelated subjects. The expression studies of the urotensin-II pathway were carried out in 97 human kidneys. Phylogenetic evolutionary analysis was conducted in 17 vertebrate species. One single nucleotide polymorphism (rs531485 in urotensin-II gene) was associated with adjusted estimated glomerular filtration rate in the discovery cohort (p = 0.0005). It showed no association with estimated glomerular filtration rate in the combined replication resource of 8724 subjects from 6 populations. Expression of urotensin-II and its receptor showed strong linear correlation (r = 0.86, p<0.0001). There was no difference in renal expression of urotensin-II system between hypertensive and normotensive subjects. Evolutionary analysis revealed accumulation of mutations in urotensin-II since the divergence of primates and weaker conservation of urotensin-II receptor in primates than in lower vertebrates. Our data suggest that urotensin-II system genes are unlikely to play a major role in genetic control of human blood pressure or renal function. The signatures of evolutionary forces acting on urotensin-II system indicate that it may have evolved towards loss of function since the divergence of primates. PMID:24391740

When does meaning making predict subjective well-being? Examining young and older adults in two cultures.

PubMed

Alea, Nicole; Bluck, Susan

2013-01-01

Two studies in different cultures (Study 1: USA, N=174, Study 2: Trinidad, N=167) examined whether meaning making, (i.e., both searching for meaning, and directing behaviour) is positively related to subjective well-being (SWB) by age (younger, older adults). In both studies, participants self-reported engagement in meaning making, and SWB (e.g., affect, future time perspective, psychological well-being). In Study 1, young Americans (compared to older) more frequently used their past to direct behaviour but doing so was unrelated to SWB. In older Americans, both types of meaning making were positively associated with SWB. In Study 2, Trinidadian younger adults were again more likely than older adults to engage in meaning making. Unlike in the American sample, however, directing behaviour was positively related to SWB for both young and older adults. The studies demonstrate that whether meaning making shows benefits for SWB may depend on type of meaning, age and culture. Note that although meaning making was sometimes unrelated to SWB, no detrimental relations to meaning making were found. The discussion focuses on the role of moderators in understanding when meaning making should lead to benefits versus costs to SWB.

Exploring nutrition education resources and barriers, and nutrition knowledge in teachers in California.

PubMed

Jones, Anna Marie; Zidenberg-Cherr, Sheri

2015-01-01

To determine barriers to nutrition education, nutrition education resources used, and the relationship between nutrition knowledge and whether public school teachers in California teach nutrition in the classroom. A total of 102 teachers in California participated in a Web-based survey about nutrition education barriers, resources used to plan nutrition lessons, and factors that would encourage inclusion of nutrition. A validated questionnaire was used to assess nutrition knowledge. Analyses included ordinary least-squares regression. Common barriers were lack of instructional time and unrelated subject. Teachers were unaware of many nutrition education resources. Nutrition knowledge was not associated with nutrition lessons but was positively associated with teaching high school (β = 5.13; P < .05) and female gender (β = 6.78; P < .05), and negatively associated with identifying as Hispanic or Latino (β = -15.50; P < .001). Barriers of time and lack of unrelated subject matter are difficult to address but lack of awareness of resources indicates that promotion of existing resources may encourage teachers to provide nutrition education. Larger studies are needed to determine whether this holds true in a broader sample. Copyright © 2015 Society for Nutrition Education and Behavior. Published by Elsevier Inc. All rights reserved.

Evaluation of the association between sexual dysfunction and demyelinating plaque location and number in female multiple sclerosis patients.

PubMed

Solmaz, Volkan; Ozlece, Hatice Kose; Him, Aydın; Güneş, Ayfer; Cordano, Christian; Aksoy, Durdane; Çelik, Yahya

2018-04-17

Purpose To investigate the frequency of sexual dysfunction (SD) in female multiple sclerosis (MS) patients and to explore its association with the location and number of demyelinating lesions. Material and Methods We evaluated 42 female patients and 41 healthy subjects. All patients underwent neurological examination and 1.5 T brain and full spinal MRI. All subjects completed the female sexual function index (FSFI), Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), and Short-Form 36 Quality of Life Scale (SF-36). All participants were also evaluated for serum thyroid stimulating hormone (TSH), T4, estradiol, and total testosterone. Results No statistically significant differences between the MS and control groups were found for age, body mass index (BMI), serum TSH, T4, E2, and total testosterone level. MS patients had a statistically significantly lower FSFI and SF-36 scores and higher BDI and BAI scores compared with healthy subjects. The location and number of demyelinating lesions were not associated with SD. Conclusion In our cohort, this difference in SD appears unrelated to the location and number of demyelinating lesions. These findings highlight the importance of the assessment and treatment of psychiatric comorbidities, such as depression and anxiety, in MS patients reporting SD.

Deficient saccadic inhibition in Asperger's disorder and the social-emotional processing disorder

PubMed Central

Manoach, D; Lindgren, K; Barton, J

2004-01-01

Background: Both Asperger's disorder and the social-emotional processing disorder (SEPD), a form of non-verbal learning disability, are associated with executive function deficits. SEPD has been shown to be associated with deficient saccadic inhibition. Objective: To study two executive functions in Asperger's disorder and SEPD, inhibition and task switching, using a single saccadic paradigm. Methods: 22 control subjects and 27 subjects with developmental social processing disorders—SEPD, Asperger's disorder, or both syndromes—performed random sequences of prosaccades and antisaccades. This design resulted in four trial types, prosaccades and antisaccades, that were either repeated or switched. The design allowed the performance costs of inhibition and task switching to be isolated. Results: Subjects with both Asperger's disorder and SEPD showed deficient inhibition, as indicated by increased antisaccade errors and a disproportionate increase in latency for antisaccades relative to prosaccades. In contrast, task switching error and latency costs were normal and unrelated to the costs of inhibition. Conclusions: This study replicates the finding of deficient saccadic inhibition in SEPD, extends it to Asperger's disorder, and implicates prefrontal cortex dysfunction in these syndromes. The finding of intact task switching shows that executive function deficits in Asperger's disorder and SEPD are selective and suggests that inhibition and task switching are mediated by distinct neural networks. PMID:15548490

Physiogenomic Analysis of Localized fMRI Brain Activity in Schizophrenia

PubMed Central

Windemuth, Andreas; Calhoun, Vince D.; Pearlson, Godfrey D.; Kocherla, Mohan; Jagannathan, Kanchana; Ruaño, Gualberto

2009-01-01

The search for genetic factors associated with disease is complicated by the complexity of the biological pathways linking genotype and phenotype. This analytical complexity is particularly concerning in diseases historically lacking reliable diagnostic biological markers, such as schizophrenia and other mental disorders. We investigate the use of functional magnetic resonance imaging (fMRI) as an intermediate phenotype (endophenotype) to identify physiogenomic associations to schizophrenia. We screened 99 subjects, 30 subjects diagnosed with schizophrenia, 13 unaffected relatives of schizophrenia patients, and 56 unrelated controls, for gene polymorphisms associated with fMRI activation patterns at two locations in temporal and frontal lobes previously implied in schizophrenia. A total of 22 single nucleotide polymorphisms (SNPs) in 15 genes from the dopamine and serotonin neurotransmission pathways were genotyped in all subjects. We identified three SNPs in genes that are significantly associated with fMRI activity. SNPs of the dopamine beta-hydroxylase (DBH) gene and of the dopamine receptor D4 (DRD4) were associated with activity in the temporal and frontal lobes, respectively. One SNP of serotonin-3A receptor (HTR3A) was associated with temporal lobe activity. The results of this study support the physiogenomic analysis of neuroimaging data to discover associations between genotype and disease-related phenotypes. PMID:18330705

Both interleukin-23A polymorphism and serum interlukin-23 expression are associated with Graves' disease risk.

PubMed

Jia, Huiying; Tao, Feng; Liu, Changqin; Guo, Ting; Zhu, Wei; Wang, Shu; Cui, Bin; Ning, Guang

2015-03-01

Two independent Chinese cohorts were used to study the genetic association between the interleukin-23A (IL-23A) gene polymorphism (rs11171806) and susceptibility to Graves' disease (GD). The initial Shanghai cohort consisted of 712 unrelated patients with GD and 705 healthy control subjects, and the replication cohort from Xiamen Island included 433 patients with GD and 410 healthy control subjects. The serum concentration of IL-23 in GD patients was measured significantly higher than in health controls. Moreover in the subgroup analysis, higher concentrations of IL-23 were identified in patients of older age (⩾40 years) and female gender. We also performed an association study with the IL-23 gene polymorphism rs11171806 in both cohorts, in Shanghai cohorts, the frequencies of rs11171806 alleles were strongly different between Graves' disease patients (G 95.7% and A 4.3%) and healthy controls (G 97.7% and A 2.3%) (P=2.6×10(-3), OR=1.93 (95% CI: 1.25-2.97)), and in Xiamen cohorts, the proportion of individuals carrying the A allele of rs11171806 was the same significantly higher in Graves' disease patients than in controls [Graves' disease vs. control, 4.8% vs. 4.3%, OR=2.15 (95% CI: 1.23-3.79), P(allele)=6.3×10(-3)]. The distribution of rs11171806 genotype was also investigated in subgroups according to the age and gender. All of these findings suggested that IL-23 may play an important role in the development of GD, and the IL-23A gene is a genetic risk marker for GD in Han Chinese population. Copyright © 2015 Elsevier Inc. All rights reserved.

Multicenter Approach to Recurrent Acute and Chronic Pancreatitis in the United States: The North American Pancreatitis Study 2 (NAPS2)

PubMed Central

Whitcomb, David C.; Yadav, Dhiraj; Adam, Slivka; Hawes, Robert H.; Brand, Randall E.; Anderson, Michelle A.; Money, Mary E.; Banks, Peter A.; Bishop, Michele D.; Baillie, John; Sherman, Stuart; DiSario, James; Burton, Frank R.; Gardner, Timothy B.; Amann, Stephen T.; Gelrud, Andres; Lo, Simon K.; DeMeo, Mark T.; Steinberg, William M.; Kochman, Michael L.; Etemad, Babak; Forsmark, Christopher E.; Elinoff, Beth; Greer, Julia B.; O’Connell, Michael; Lamb, Janette; Barmada, M. Michael

2008-01-01

Background Recurrent acute pancreatitis (RAP) and chronic pancreatitis (CP) are complex syndromes associated with numerous etiologies, clinical variables and complications. We developed the North American Pancreatitis Study 2 (NAPS2) to be sufficiently powered to understand the complex environmental, metabolic and genetic mechanisms underlying RAP and CP. Methods Between August 2000 and September 2006, a consortium of 20 expert academic and private sites prospectively ascertained 1,000 human subjects with RAP or CP, plus 695 controls (spouse, family, friend or unrelated). Standardized questionnaires were completed by both the physicians and study subjects and blood was drawn for genomic DNA and biomarker studies. All data were double-entered into a database and systematically reviewed to minimize errors and include missing data. Results A total of 1,000 subjects (460 RAP, 540 CP) and 695 controls who completed consent forms and questionnaires and donated blood samples comprised the final dataset. Data were organized according to diagnosis, supporting documentation, etiological classification, clinical signs and symptoms (including pain patterns and duration, and quality of life), past medical history, family history, environmental exposures (including alcohol and tobacco use), medication use and therapeutic interventions. Upon achieving the target enrollment, data were organized and classified to facilitate future analysis. The approaches, rationale and datasets are described, along with final demographic results. Conclusion The NAPS2 consortium has successfully completed a prospective ascertainment of 1,000 subjects with RAP and CP from the USA. These data will be useful in elucidating the environmental, metabolic and genetic conditions, and to investigate the complex interactions that underlie RAP and CP. PMID:18765957

Strong viral associations with SLE among Filipinos

PubMed Central

Vista, Evan S; Weisman, Michael H; Ishimori, Mariko L; Chen, Hua; Bourn, Rebecka L; Bruner, Ben F; Hamijoyo, Laniyati; Tanangunan, Robelle D; Gal, Noga J; Robertson, Julie M; Harley, John B; Guthridge, Joel M; Navarra, Sandra V; James, Judith A

2017-01-01

Objectives Epstein-Barr virus (EBV) is considered an important environmental factor in SLE aetiology, but the relationship between SLE and EBV in the Filipino population is unknown. We tested associations between SLE, lupus-associated autoantibodies and seropositivity for EBV and other herpes viruses in the Filipino population. Methods Sera from Filipino patients with SLE (n=233), unaffected first-degree relatives (FDRs, n=543) and unrelated controls (n=221) were tested for antibodies against EBV, cytomegalovirus (CMV) and herpes simplex viruses (HSV-1 and HSV-2) by standardised ELISAs. Humoral specificity against EBV nuclear antigen (EBNA)-1 was compared by solid-phase epitope mapping. Autoantibodies were detected by a bead-based multiplex assay. Results were analysed by Fisher's exact test, Student's t-test, χ2 test and one-way analysis of variance, as appropriate for the question. Results Filipino patients with SLE had increased seroprevalence and elevated antibody concentrations against EBV viral capsid antigen (EBV-VCA), CMV, HSV-1 and HSV-2 compared with unrelated controls (p<0.05). Seropositivity for anti-EBV early antigen (EA), a marker of EBV reactivation, was dramatically increased in patients with SLE compared with unrelated controls (92.3% vs 40.4%; OR 17.15(95% CI 10.10, 30.66), p<0.0001) or unaffected FDRs (49.4%; OR 12.04(7.42, 20.74), p<0.0001), despite similar seroprevalence of EBV-VCA in patients and FDRs. In patients with SLE, EBV-EA seropositivity correlated with lupus-associated autoantibodies (p<0.001), most notably with autoantibodies against dsDNA, chromatin, Sm, SmRNP and RNP A (p<0.01). Patient and unrelated control sera reacted to the highly repetitive glycine and alanine domain of EBNA-1. An epitope spanning EBNA-1410-420 was identified in sera of patients with SLE and showed limited binding by FDR and control sera. Conclusions Filipino patients with SLE have elevated prevalence and concentrations of antibodies against EBV, CMV, HSV-1 and HSV-2 antigens, along with altered anti-EBNA-1 specificities. EBV reactivation is more common among Filipino patients with SLE compared with healthy Filipinos and may contribute to SLE pathogenesis in this population. PMID:29214036

Happy Family Kitchen II: a cluster randomized controlled trial of a community-based positive psychology family intervention for subjective happiness and health-related quality of life in Hong Kong.

PubMed

Ho, Henry C Y; Mui, Moses; Wan, Alice; Ng, Yin-Lam; Stewart, Sunita M; Yew, Carol; Lam, Tai Hing; Chan, Sophia S

2016-07-29

Most positive psychology interventions conducted in the West have been focused on the individual. Family relationships are highly valued in the Chinese collectivist culture, and it is of interest to know whether family-focused interventions can improve the well-being of Chinese people. We have previously reported the effectiveness of a positive psychology family intervention in terms of family well-being. Based on the data derived from the Happy Family Kitchen II project, this paper examines the effectiveness of a community-based positive psychology family intervention on subjective happiness and health-related quality of life. Thirty-one social service units and schools organized intervention programs for 2070 participants in Hong Kong. In a cluster randomized controlled trial, participants were randomly assigned on the basis of computer-generated numbers into the intervention group or the control group. The intervention programs emphasized one of five positive psychology themes: joy, gratitude, flow, savoring, and listening. The control group engaged in activities unrelated to the intervention, such as arts and crafts workshops. Subjective happiness and mental and physical quality of life were assessed at baseline and at 4 weeks and 12 weeks postintervention. Data of 1261 participants were analyzed. The results showed that the intervention was more effective than the control condition in improving subjective happiness, with a small effect size, at 12 weeks postintervention (β = .15, p = .020, Cohen's d = .16). However, there were no improvements in mental and physical quality of life in the intervention group compared with the control group at 4 weeks (β = .39, p = .494, d = .05; β = -.10, p = 1.000, d = -.01, respectively) and 12 weeks postintervention (β = .71, p = .233, d = .08; β = -.05, p = 1.000, d = -.01, respectively). Furthermore, the booster session was no more effective than the tea gathering session in improving subjective happiness (β = .00, p = .990, d = .00) or mental (β = 1.20, p = 1.000, d = -.04) and physical quality of life (β = .15, p = 1.000, d = -.01). The analyses extend previous findings of salutary effects on family well-being by showing that positive psychology family interventions can improve subjective happiness. Suggestions for future research are proposed. ClinicalTrials.gov NCT01796275 . Retrospectively registered 19 February 2013.

[Schizophrenia and semantic priming effects].

PubMed

Lecardeur, L; Giffard, B; Eustache, F; Dollfus, S

2006-01-01

This article is a review of studies using the semantic priming paradigm to assess the functioning of semantic memory in schizophrenic patients. Semantic priming describes the phenomenon of increasing the speed with which a string of letters (the target) is recognized as a word (lexical decision task) by presenting to the subject a semantically related word (the prime) prior to the appearance of the target word. This semantic priming is linked to both automatic and controlled processes depending on experimental conditions (stimulus onset asynchrony (SOA), percentage of related words and explicit memory instructions). Automatic process observed with short SOA, low related word percentage and instructions asking only to process the target, could be linked to the "automatic spreading activation" through the semantic network. Controlled processes involve "semantic matching" (the number of related and unrelated pairs influences the subjects decision) and "expectancy" (the prime leads the subject to generate an expectancy set of potential target to the prime). These processes can be observed whatever the SOA for the former and with long SOA for the later, but both with only high related word percentage and explicit memory instructions. Studies evaluating semantic priming effects in schizophrenia show conflicting results: schizophrenic patients can present hyperpriming (semantic priming effect is larger in patients than in controls), hypopriming (semantic priming effect is lower in patients than in controls) or equal semantic priming effects compared to control subjects. These results could be associated to a global impairment of controlled processes in schizophrenia, essentially to a dysfunction of semantic matching process. On the other hand, efficiency of semantic automatic spreading activation process is controversial. These discrepancies could be linked to the different experimental conditions used (duration of SOA, proportion of related pairs and instructions), which influence on the degree of involvement of controlled processes and therefore prevent to really assess its functioning. In addition, manipulations of the relation between prime and target (semantic distance, type of semantic relation and strength of semantic relation) seem to influence reaction times. However, the relation between prime and target (mediated priming) frequently used could not be the most relevant relation to understand the way of spreading of activation in semantic network in patients with schizophrenia. Finally, patients with formal thought disorders present particularly high priming effects relative to controls. These abnormal semantic priming effects could reflect a dysfunction of automatic spreading activation process and consequently an exaggerated diffusion of activation in the semantic network. In the future, the inclusion of different groups schizophrenic subjects could allow us to determine whether semantic memory disorders are pathognomonic or specific of a particular group of patients with schizophrenia.

Plasminogen activator inhibitor-1 4G/5G gene polymorphism and primary open-angle glaucoma

PubMed Central

Weger, Martin; Faschinger, Christoph; Schmut, Otto; Renner, Wilfried

2008-01-01

Purpose Alterations of the plasmin system have been suggested to participate in the multifactorial pathogenesis of primary open-angle glaucoma (POAG). The main physiological inhibitor of the plasmin system is plasminogen activator inhibitor-1 (PAI-1), which leads to decreased degradation of extracellular material. Interestingly, elevated PAI-1 levels in the aqueous humor of patients with POAG have been reported. A common polymorphism within the promoter region (PAI-1 4G/5G) has previously been shown to reduce the gene transcription rate of PAI-1. The purpose of the present study was to investigate a hypothesized association between PAI-1 4G/5G and the presence of POAG in a Caucasian population. Methods The present case-control study comprised 212 unrelated patients with POAG and 212 healthy control subjects, matched for age and sex. Genotyping of PAI-1 4G/5G polymorphisms was done using polymerase chain reaction. Results Allelic frequencies and genotype distributions of PAI-1 4G/5G did not significantly differ between patients with POAG and control subjects (PAI-1 4G/5G: 29.7% versus 29.7%). Presence of the PAI-1 4G-allele was associated with a nonsignificant odds ratio of 0.98 (95% confidence interval: 0.74–1.30) for POAG. Conclusions Our data suggest that PAI-1 4G/5G itself is unlikely to be a major risk factor among Caucasian patients with POAG. PMID:18615155

Dutch elm disease control: performance and costs

Treesearch

William N., Jr. Cannon; David P. Worley

1976-01-01

Municipal programs to suppress Dutch elm disease have had highly variable results. Performance as measured by tree mortality was unrelated to control strategies. Costs for control programs were 37 to 76 percent less than costs without control programs in the 15-year time-span of the study. Only those municipalities that conducted a high-performance program could be...

Dutch elm disease control: performance and costs

Treesearch

William N., Jr. Cannon; David P. Worley

1980-01-01

Municipal programs to suppress Dutch elm disease have had highly variable results. Performance as measured by tree mortality was unrelated to control strategies. Costs for control programs were 37 to 76 percent less than costs without control programs in the 15-year time-span of the study. Only those municipalities that conducted a high-performance program could be...

Similarities and differences between mind-wandering and external distraction: a latent variable analysis of lapses of attention and their relation to cognitive abilities.

PubMed

Unsworth, Nash; McMillan, Brittany D

2014-07-01

The current study examined the extent to which task-unrelated thoughts represent both vulnerability to mind-wandering and susceptibility to external distraction from an individual difference perspective. Participants performed multiple measures of attention control, working memory capacity, and fluid intelligence. Task-unrelated thoughts were assessed using thought probes during the attention control tasks. Using latent variable techniques, the results suggested that mind-wandering and external distraction reflect distinct, yet correlated constructs, both of which are related to working memory capacity and fluid intelligence. Furthermore, the results suggest that the common variance shared by mind-wandering, external distraction, and attention control is what primarily accounts for their relation with working memory capacity and fluid intelligence. These results support the notion that lapses of attention are strongly related to cognitive abilities. Copyright © 2014 Elsevier B.V. All rights reserved.

Self-Regulation and Implicit Attitudes Toward Physical Activity Influence Exercise Behavior.

PubMed

Padin, Avelina C; Emery, Charles F; Vasey, Michael; Kiecolt-Glaser, Janice K

2017-08-01

Dual-process models of health behavior posit that implicit and explicit attitudes independently drive healthy behaviors. Prior evidence indicates that implicit attitudes may be related to weekly physical activity (PA) levels, but the extent to which self-regulation attenuates this link remains unknown. This study examined the associations between implicit attitudes and self-reported PA during leisure time among 150 highly active young adults and evaluated the extent to which effortful control (one aspect of self-regulation) moderated this relationship. Results indicated that implicit attitudes toward exercise were unrelated to average workout length among individuals with higher effortful control. However, those with lower effortful control and more negative implicit attitudes reported shorter average exercise sessions compared with those with more positive attitudes. Implicit and explicit attitudes were unrelated to total weekly PA. A combination of poorer self-regulation and negative implicit attitudes may leave individuals vulnerable to mental and physical health consequences of low PA.

Chronic bystander infections and immunity to unrelated antigens

PubMed Central

Stelekati, Erietta; Wherry, E. John

2012-01-01

Chronic infections with persistent pathogens such as helminths, mycobacteria, Plasmodium and hepatitis viruses affect more than a third of the human population and are associated with increased susceptibility to other pathogens as well as reduced vaccine efficacy. Although these observations suggest an impact of chronic infections in modulating immunity to unrelated antigens, little is known regarding the underlying mechanisms. Here, we summarize evidence of the most prevalent infections affecting immunity to unrelated pathogens and vaccines, and discuss potential mechanisms of how different bystander chronic infections might impact immune responses. We suggest that bystander chronic infections affect different stages of host responses and may impact transmission of other pathogens, recognition and innate immune responses, priming and differentiation of adaptive effector responses, as well as the development and maintenance of immunological memory. Further understanding of the immunological effects of co-infection should provide opportunities to enhance vaccine efficacy and control infectious diseases. PMID:23084915

Chronic active Epstein-Barr virus infection with mosquito allergy successfully treated with reduced-intensity unrelated allogeneic bone marrow transplantation in a boy.

PubMed

Matsunaga, Takayuki; Kurosawa, Hidemitsu; Okuya, Mayuko; Nakajima, Daisuke; Hagisawa, Susumu; Sato, Yuya; Fukushima, Keitaro; Sugita, Kenichi; Arisaka, Osamu

2009-03-01

EBV-infected T-/NK cells play an important role in the pathogenesis of mosquito allergy, and the prognosis of most patients with mosquito allergy is poor without proper treatment. We describe a 13-yr-old boy who had CAEBV with mosquito allergy and was successfully treated with BMT from an unrelated donor after reduced-intensity preconditioning. Because combination chemotherapy failed to achieve CR, we performed unrelated BMT to reconstitute normal immunity and eradicate any residual EBV-infected cells. To reduce complications after BMT, we selected a reduced-intensity preconditioning regimen consisting of fludarabine, l-phenylalanine mustard, and antithymocyte Ig instead of a conventional myeloablative preconditioning. Although grade II acute GVHD developed, it was successfully controlled with immunosuppressive therapy. After 27 months, the patient has been well without any signs of CAEBV, and the EBV DNA has been undetectable with real-time PCR analysis. We conclude that RIST from the bone marrow of an unrelated donor is indicated for some patients who have CAEBV that is refractory to chemotherapy and who have no HLA-matched related donors or cord blood as a source of stem cells.

Accidental Composition: How the Ph.D. Machine Fails Our Students

ERIC Educational Resources Information Center

Vance, Lash K.

2018-01-01

Imagine spending six or more years diligently training in a particular subject to only apply for a job in an unrelated field. Most everything you know will never be used; your education remains for your own edification, locked in a dusty wardrobe of the mind. Add to this a lack of awareness of how to do your new job. This is the picture of the…

Hand Preference for Writing and Associations with Selected Demographic and Behavioral Variables in 255,100 Subjects: The BBC Internet Study

ERIC Educational Resources Information Center

Peters, Michael; Reimers, Stian; Manning, John T.

2006-01-01

In an Internet study unrelated to handedness, 134,317 female and 120,783 male participants answered a graded question as to which hand they preferred for writing. This allowed determination of hand preference patterns across 7 ethnic groups. Sex differences in left-handedness were found in 4 ethnic groups, favoring males, while no significant sex…

Using 50 K single nucleotide polymorphisms to elucidate genomic architecture of line 1 Hereford cattle

USDA-ARS?s Scientific Manuscript database

Hereford is a major beef breed in the USA and has been subjected to selection for a variety of goals. A sub-population, known as Line 1 (L1), was established in 1934 by joining two paternal half-sib bulls with 50 unrelated females. L1 has since been maintained as a closed population and selected p...

Prenatal Smoking Might Not Cause Attention-Deficit/Hyperactivity Disorder: Evidence from a Novel Design

PubMed Central

Thapar, Anita; Rice, Frances; Hay, Dale; Boivin, Jacky; Langley, Kate; van den Bree, Marianne; Rutter, Michael; Harold, Gordon

2009-01-01

Background It is widely considered that exposure to maternal cigarette smoking in pregnancy has risk effects on offspring attention-deficit/hyperactivity disorder (ADHD). This view is supported by consistent observations of association. It is, however, impossible to be certain of adequate control for confounding factors with observational designs. We use a novel “natural experiment” design that separates prenatal environmental from alternative inherited effects. Methods The design is based on offspring conceived with Assisted Reproductive Technologies recruited from 20 fertility clinics in the United Kingdom and United States who were: 1) genetically unrelated, and 2) related to the woman who underwent the pregnancy. If maternal smoking in pregnancy has true risk effects, association will be observed with ADHD regardless of whether mother and offspring are related or unrelated. Data were obtained from 815 families of children ages 4 years–11 years with parent questionnaires and antenatal records. Birth weight was used as a comparison outcome. The key outcome considered was child ADHD symptoms. Results Association between smoking in pregnancy and lower birth weight was found in unrelated and related mother-offspring pairs, consistent with a true risk effect. However, for ADHD symptoms, the magnitude of association was significantly higher in the related pairs (β = .102, p < .02) than in the unrelated pairs (β= −.052, p > .10), suggesting inherited effects. Conclusions Our findings highlight the need to test causal hypotheses with genetically sensitive designs. Inherited confounds are not necessarily removed by statistical controls. The previously observed association between maternal smoking in pregnancy and ADHD might represent an inherited effect. PMID:19596120

Active commuting reduces the risk of wrist fractures in middle-aged women-the UFO study.

PubMed

Englund, U; Nordström, P; Nilsson, J; Hallmans, G; Svensson, O; Bergström, U; Pettersson-Kymmer, U

2013-02-01

Middle-aged women with active commuting had significantly lower risk for wrist fracture than women commuting by car/bus. Our purpose was to investigate whether a physically active lifestyle in middle-aged women was associated with a reduced risk of later sustaining a low-trauma wrist fracture. The Umeå Fracture and Osteoporosis (UFO) study is a population-based nested case-control study investigating associations between lifestyle and fragility fractures. From a cohort of ~35,000 subjects, we identified 376 female wrist fracture cases who had reported data regarding their commuting habits, occupational, and leisure physical activity, before they sustained their fracture. Each fracture case was compared with at least one control drawn from the same cohort and matched for age and week of reporting data, yielding a total of 778 subjects. Mean age at baseline was 54.3 ± 5.8 years, and mean age at fracture was 60.3 ± 5.8 years. Conditional logistic regression analysis with adjustments for height, body mass index, smoking, and menopausal status showed that subjects with active commuting (especially walking) were at significantly lower risk of sustaining a wrist fracture (OR 0.48; 95 % CI 0.27-0.88) compared with those who commuted by car or bus. Leisure time activities such as dancing and snow shoveling were also associated with a lower fracture risk, whereas occupational activity, training, and leisure walking or cycling were unrelated to fracture risk. This study suggests that active commuting is associated with a lower wrist fracture risk, in middle-aged women.

Human's choices in situations of time-based diminishing returns.

PubMed Central

Hackenberg, T D; Axtell, S A

1993-01-01

Three experiments examined adult humans' choices in situations with contrasting short-term and long-term consequences. Subjects were given repeated choices between two time-based schedules of points exchangeable for money: a fixed schedule and a progressive schedule that began at 0 s and increased by 5 s with each point delivered by that schedule. Under "reset" conditions, choosing the fixed schedule not only produced a point but it also reset the requirements of the progressive schedule to 0 s. In the first two experiments, reset conditions alternated with "no-reset" conditions, in which progressive-schedule requirements were independent of fixed-schedule choices. Experiment 1 entailed choices between a progressive-interval schedule and a fixed-interval schedule, the duration of which varied across conditions. Switching from the progressive- to the fixed-interval schedule was systematically related to fixed-interval size in 4 of 8 subjects, and in all subjects occurred consistently sooner in the progressive-schedule sequence under reset than under no-reset procedures. The latter result was replicated in a second experiment, in which choices between progressive- and fixed-interval schedules were compared with choices between progressive- and fixed-time schedules. In Experiment 3, switching patterns under reset conditions were unrelated to variations in intertrial interval. In none of the experiments did orderly choice patterns depend on verbal descriptions of the contingencies or on schedule-controlled response patterns in the presence of the chosen schedules. The overall pattern of results indicates control of choices by temporarily remote consequences, and is consistent with versions of optimality theory that address performance in situations of diminishing returns. PMID:8315364

Smoking is not associated with autoantibody production in systemic lupus erythematosus patients, unaffected first-degree relatives, nor healthy controls

PubMed Central

Young, Kendra A; Terrell, Deirdra R; Guthridge, Joel M; Kamen, Diane L; Gilkeson, Gary S; Karp, David R; Ishimori, Mariko L; Weisman, Michael H; Holers, V Michael; Harley, John B; Norris, Jill M; James, Judith A

2014-01-01

Objective To examine whether smoking is associated with autoantibody production in systemic lupus erythematosus (SLE) patients, unaffected first-degree relatives (FDR) of individuals with SLE - a group at increased risk of developing SLE, or unaffected, unrelated controls. Methods Detailed demographic, environmental, clinical, and therapeutic information was collected by questionnaire on 1,242 SLE patients, 981 FDRs, and 946 controls in the Lupus Family Registry and Repository; a blood sample was obtained. All sera were tested for multiple lupus autoantibodies by immunofluorescence and luminex bead-based assays. Generalized estimating equations, adjusting for age, gender, and ethnicity and accounting for correlation within families, were used to assess smoking status with the dichotomous outcome variables of positivity for SLE status, positivity of ANA by immunofluorescence (≥ 1:120), positivity for ≥ 1 autoantibody by the luminex assay, and positivity for each of the 11 autoantibodies. Results Current smoking was associated with being positive for ≥ 1 autoantibody (excluding ANA) (adjusted OR=1.53, 95% CI 1.04–2.24) in our subjects with SLE. No association was observed in unaffected FDRs or healthy controls. Former smoking was associated with anti-Ro/SS-A60 in our unaffected FDRs. There was an increased association with anti-nRNP A seropositivity, as well as a decreased association with anti-nRNP 68 positivity, in current smokers in SLE subjects. Conclusions No clear association between smoking status and individual autoantibodies was detected in SLE patients, unaffected FDRs, nor healthy controls within this collection. The association of smoking with SLE may therefore manifest its risk through mechanisms outside of autoantibody production, at least for the specificities tested. PMID:24449338

The relationship between cell phone use and management of driver fatigue: It's complicated.

PubMed

Saxby, Dyani Juanita; Matthews, Gerald; Neubauer, Catherine

2017-06-01

Voice communication may enhance performance during monotonous, potentially fatiguing driving conditions (Atchley & Chan, 2011); however, it is unclear whether safety benefits of conversation are outweighed by costs. The present study tested whether personalized conversations intended to simulate hands-free cell phone conversation may counter objective and subjective fatigue effects elicited by vehicle automation. A passive fatigue state (Desmond & Hancock, 2001), characterized by disengagement from the task, was induced using full vehicle automation prior to drivers resuming full control over the driving simulator. A conversation was initiated shortly after reversion to manual control. During the conversation an emergency event occurred. The fatigue manipulation produced greater task disengagement and slower response to the emergency event, relative to a control condition. Conversation did not mitigate passive fatigue effects; rather, it added worry about matters unrelated to the driving task. Conversation moderately improved vehicle control, as measured by SDLP, but it failed to counter fatigue-induced slowing of braking in response to an emergency event. Finally, conversation appeared to have a hidden danger in that it reduced drivers' insights into performance impairments when in a state of passive fatigue. Automation induced passive fatigue, indicated by loss of task engagement; yet, simulated cell phone conversation did not counter the subjective automation-induced fatigue. Conversation also failed to counter objective loss of performance (slower braking speed) resulting from automation. Cell phone conversation in passive fatigue states may impair drivers' awareness of their performance deficits. Practical applications: Results suggest that conversation, even using a hands-free device, may not be a safe way to reduce fatigue and increase alertness during transitions from automated to manual vehicle control. Copyright © 2017 Elsevier Ltd and National Safety Council. All rights reserved.

Perceptual Repetition Blindness Effects

NASA Technical Reports Server (NTRS)

Hochhaus, Larry; Johnston, James C.; Null, Cynthia H. (Technical Monitor)

1994-01-01

The phenomenon of repetition blindness (RB) may reveal a new limitation on human perceptual processing. Recently, however, researchers have attributed RB to post-perceptual processes such as memory retrieval and/or reporting biases. The standard rapid serial visual presentation (RSVP) paradigm used in most RB studies is, indeed, open to such objections. Here we investigate RB using a "single-frame" paradigm introduced by Johnston and Hale (1984) in which memory demands are minimal. Subjects made only a single judgement about whether one masked target word was the same or different than a post-target probe. Confidence ratings permitted use of signal detection methods to assess sensitivity and bias effects. In the critical condition for RB a precue of the post-target word was provided prior to the target stimulus (identity precue), so that the required judgement amounted to whether the target did or did not repeat the precue word. In control treatments, the precue was either an unrelated word or a dummy.

Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus.

PubMed Central

Kotze, M J; Langenhoven, E; Retief, A E; Seftel, H C; Henderson, H E; Weich, H F

1989-01-01

Ten useful two allele restriction fragment length polymorphisms of the low density lipoprotein receptor gene were used for haplotype analysis in 45 unrelated familial hypercholesterolaemic (FH) patients, 60 normal controls, and 32 FH homozygotes, all of whom were white Afrikaners. Pedigree analysis in 27 informative heterozygous FH and 23 normal families has shown the segregation of at least 17 haplotypes in the normal population (111 chromosomes) compared to a predominant association of two of these haplotypes with the disease in the FH subjects. This association was further confirmed in 32 FH homozygotes, indicating at least two 'founder' members for the disease in the Afrikaner population. Recombination events were not detected in any of the families studied and we thus conclude that the haplotypes associated with FH function as specific markers for the disease and will allow presymptomatic diagnosis in affected families. PMID:2565980

Exome sequence analysis suggests genetic burden contributes to phenotypic variability and complex neuropathy

PubMed Central

Gonzaga-Jauregui, Claudia; Harel, Tamar; Gambin, Tomasz; Kousi, Maria; Griffin, Laurie B.; Francescatto, Ludmila; Ozes, Burcak; Karaca, Ender; Jhangiani, Shalini; Bainbridge, Matthew N.; Lawson, Kim S.; Pehlivan, Davut; Okamoto, Yuji; Withers, Marjorie; Mancias, Pedro; Slavotinek, Anne; Reitnauer, Pamela J; Goksungur, Meryem T.; Shy, Michael; Crawford, Thomas O.; Koenig, Michel; Willer, Jason; Flores, Brittany N.; Pediaditrakis, Igor; Us, Onder; Wiszniewski, Wojciech; Parman, Yesim; Antonellis, Anthony; Muzny, Donna M.; Katsanis, Nicholas; Battaloglu, Esra; Boerwinkle, Eric; Gibbs, Richard A.; Lupski, James R.

2015-01-01

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ~45% (17/37) of families. Three candidate disease genes are proposed, supported by a combination of genetic and in vivo studies. Aggregate analysis of mutation data revealed a significantly increased number of rare variants across 58 neuropathy associated genes in subjects versus controls; confirmed in a second ethnically discrete neuropathy cohort, suggesting mutation burden potentially contributes to phenotypic variability. Neuropathy genes shown to have highly penetrant Mendelizing variants (HMPVs) and implicated by burden in families were shown to interact genetically in a zebrafish assay exacerbating the phenotype established by the suppression of single genes. Our findings suggest that the combinatorial effect of rare variants contributes to disease burden and variable expressivity. PMID:26257172

Drinking and condom use: results from an event-based daily diary

PubMed Central

Leigh, Barbara C.; Vanslyke, Jan Gaylord; Hoppe, Marilyn J.; Rainey, Damian T.; Morrison, Diane M.; Gillmore, Mary Rogers

2007-01-01

Although it is often assumed that drinking alcohol interferes with condom use, most studies on this topic do not meet the conditions required for causal interpretation. We examined the association of drinking to condom use using data from diaries of alcohol use and sexual encounters, collected over 8 weeks from college students and clients of a sexually transmitted disease clinic. This method establishes the temporal relationships between drinking and condom use and controls for individual differences by using a within-subjects analysis. Multilevel models that predicted condom use from alcohol use before the sexual encounter, partner type, and the use of other contraception showed that drinking before sex was unrelated to condom use. These results do not support the persistent notion that alcohol causes people to engage in sexual risk that they would avoid when sober; instead, people tend to follow their usual pattern of condom use, regardless of alcohol use. PMID:17333311

Twenty Years of Public Health Research: Inclusion of Lesbian, Gay, Bisexual, and Transgender Populations

PubMed Central

Boehmer, Ulrike

2002-01-01

Objectives. This study determined to what extent lesbian, gay, bisexual, and transgender (LGBT) populations have been studied over the past 20 years of public health research. Methods. From MEDLINE English-language articles on human subjects published between 1980 and 1999, I identified articles that included LGBT individuals. The abstracts were analyzed with a coding procedure that categorized the content by topic, sexual orientation, and race/ethnicity. Results. LGBT issues were addressed by 3777 articles, or 0.1% of all Medline articles; 61% of the articles were disease-specific, and 85% omitted reference to race/ethnicity. Research unrelated to sexually transmitted diseases addressed lesbians and gay men with similar frequency, whereas bisexual persons were less frequently considered, and the least amount of research focused on transgender individuals. Conclusions. Findings supported that LGBT issues have been neglected by public health research and that research unrelated to sexually transmitted diseases is lacking. PMID:12084696

More Effective Consolidation of Episodic Long-Term Memory in Children Than Adults-Unrelated to Sleep.

PubMed

Wang, Jing-Yi; Weber, Frederik D; Zinke, Katharina; Inostroza, Marion; Born, Jan

2017-06-08

Abilities to encode and remember events in their spatiotemporal context (episodic memory) rely on brain regions that mature late during childhood and are supported by sleep. We compared the temporal dynamics of episodic memory formation and the role of sleep in this process between 62 children (8-12 years) and 57 adults (18-37 years). Subjects recalled "what-where-when" memories after a short 1-hr retention interval or after a long 10.5-hr interval containing either nocturnal sleep or daytime wakefulness. Although children showed diminished recall of episodes after 1 hr, possibly resulting from inferior encoding, unlike adults, they showed no further decrease in recall after 10.5 hr. In both age groups, episodic memory benefitted from sleep. However, children's more effective offline retention was unrelated to sleep. © 2017 The Authors. Child Development © 2017 Society for Research in Child Development, Inc.

Odors as cues for orientation to mothers by weanling Virginia opossums

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

Holmes, D.J.

1992-12-01

Three experiments were conducted to investigate whether whole-body and pouch odors facilitate social cohesion between young Virginia opossums and their mothers just prior to weaning. In experiment 1, young oriented toward plastic buckets containing their mothers, directing significantly higher levels of investigative behavior and more distress vocalizations toward them than toward buckets containing unrelated lactating females. In experiment 2, young oriented toward and investigated empty buckets containing whole-body odors of their mothers more than empty buckets containing odors of other females. Similarly, more investigative behavior was directed toward plastic bucket lids containing pouch odors from subjects mothers than toward pouchmore » odors from unrelated females in experiment 3. These results suggest that social odors help young didelphid marsupials maintain contact with their mothers, as in other mammals, and that whole-body and pouch gland odors are important chemical signals in this nongregarious species.« less

Neural correlates of anticipation and processing of performance feedback in social anxiety.

PubMed

Heitmann, Carina Y; Peterburs, Jutta; Mothes-Lasch, Martin; Hallfarth, Marlit C; Böhme, Stephanie; Miltner, Wolfgang H R; Straube, Thomas

2014-12-01

Fear of negative evaluation, such as negative social performance feedback, is the core symptom of social anxiety. The present study investigated the neural correlates of anticipation and perception of social performance feedback in social anxiety. High (HSA) and low (LSA) socially anxious individuals were asked to give a speech on a personally relevant topic and received standardized but appropriate expert performance feedback in a succeeding experimental session in which neural activity was measured during anticipation and presentation of negative and positive performance feedback concerning the speech performance, or a neutral feedback-unrelated control condition. HSA compared to LSA subjects reported greater anxiety during anticipation of negative feedback. Functional magnetic resonance imaging results showed deactivation of medial prefrontal brain areas during anticipation of negative feedback relative to the control and the positive condition, and medial prefrontal and insular hyperactivation during presentation of negative as well as positive feedback in HSA compared to LSA subjects. The results indicate distinct processes underlying feedback processing during anticipation and presentation of feedback in HSA as compared to LSA individuals. In line with the role of the medial prefrontal cortex in self-referential information processing and the insula in interoception, social anxiety seems to be associated with lower self-monitoring during feedback anticipation, and an increased self-focus and interoception during feedback presentation, regardless of feedback valence. © 2014 Wiley Periodicals, Inc.

Does morality have a biological basis? An empirical test of the factors governing moral sentiments relating to incest.

PubMed

Lieberman, Debra; Tooby, John; Cosmides, Leda

2003-04-22

Kin-recognition systems have been hypothesized to exist in humans, and adaptively to regulate altruism and incest avoidance among close genetic kin. This latter function allows the architecture of the kin recognition system to be mapped by quantitatively matching individual variation in opposition to incest to individual variation in developmental parameters, such as family structure and co-residence patterns. Methodological difficulties that appear when subjects are asked to disclose incestuous inclinations can be circumvented by measuring their opposition to incest in third parties, i.e. morality. This method allows a direct test of Westermarck's original hypothesis that childhood co-residence with an opposite-sex individual predicts the strength of moral sentiments regarding third-party sibling incest. Results support Westermarck's hypothesis and the model of kin recognition that it implies. Co-residence duration objectively predicts genetic relatedness, making it a reliable cue to kinship. Co-residence duration predicts the strength of opposition to incest, even after controlling for relatedness and even when co-residing individuals are genetically unrelated. This undercuts kin-recognition models requiring matching to self (through, for example, major histocompatibility complex or phenotypic markers). Subjects' beliefs about relatedness had no effect after controlling for co-residence, indicating that systems regulating kin-relevant behaviours are non-conscious, and calibrated by co-residence, not belief.

Does morality have a biological basis? An empirical test of the factors governing moral sentiments relating to incest.

PubMed Central

Lieberman, Debra; Tooby, John; Cosmides, Leda

2003-01-01

Kin-recognition systems have been hypothesized to exist in humans, and adaptively to regulate altruism and incest avoidance among close genetic kin. This latter function allows the architecture of the kin recognition system to be mapped by quantitatively matching individual variation in opposition to incest to individual variation in developmental parameters, such as family structure and co-residence patterns. Methodological difficulties that appear when subjects are asked to disclose incestuous inclinations can be circumvented by measuring their opposition to incest in third parties, i.e. morality. This method allows a direct test of Westermarck's original hypothesis that childhood co-residence with an opposite-sex individual predicts the strength of moral sentiments regarding third-party sibling incest. Results support Westermarck's hypothesis and the model of kin recognition that it implies. Co-residence duration objectively predicts genetic relatedness, making it a reliable cue to kinship. Co-residence duration predicts the strength of opposition to incest, even after controlling for relatedness and even when co-residing individuals are genetically unrelated. This undercuts kin-recognition models requiring matching to self (through, for example, major histocompatibility complex or phenotypic markers). Subjects' beliefs about relatedness had no effect after controlling for co-residence, indicating that systems regulating kin-relevant behaviours are non-conscious, and calibrated by co-residence, not belief. PMID:12737660

Emotional complexity and its effect on psychological distress as a function of chronological age and subjective distance-to-death.

PubMed

Shrira, Amit; Bodner, Ehud; Palgi, Yuval

2015-01-01

In light of mixed evidence regarding the associations between age, emotional complexity, and psychological distress, this study examined emotional complexity and its effect on psychological distress as a function of age and subjective distance-to-death. A sample of 188 participants (age range = 29-100) rated their subjective distance-to-death and psychological distress, and reported their emotions across 14 days. Emotional complexity was unrelated to age, but negatively related to feeling closer to death. Moreover, emotional complexity was negatively related to psychological distress among those feeling closer to death. Results suggest that when death is perceived to be nearer, emotional complexity is hampered, yet becomes relevant in buffering psychological distress.

Predictors of Patterns of Alcohol-Related Blackouts Over Time in Youth From the Collaborative Study of the Genetics of Alcoholism: The Roles of Genetics and Cannabis

PubMed Central

Schuckit, Marc A.; Smith, Tom L.; Shafir, Alexandra; Clausen, Peyton; Danko, George; Gonçalves, Priscila Dib; Anthenelli, Robert M.; Chan, Grace; Kuperman, Samuel; Hesselbrock, Michie; Hesselbrock, Victor; Kramer, John; Bucholz, Kathleen K.

2017-01-01

Objective: Alcohol-related blackouts (ARBs) are anterograde amnesias related to heavy alcohol intake seen in about 50% of drinkers. Although a major determinant of ARBs relates to blood alcohol concentrations, additional contributions come from genetic vulnerabilities and possible impacts of cannabis use disorders (CUDs). We evaluated relationships of genetics and cannabis use to latent class trajectories of ARBs in 829 subjects from the Collaborative Study of the Genetics of Alcoholism (COGA). Method: The number of ARBs experienced every 2 years from subjects with average ages of 18 to 25 were entered into a latent class growth analysis in Mplus, and resulting class membership was evaluated in light of baseline characteristics, including CUDs. Correlations of number of ARBs across assessments were also compared for sibling pairs versus unrelated subjects. Results: Latent class growth analysis identified ARB-based Classes 1 (consistent low = 42.5%), 2 (moderate low = 28.3%), 3 (moderate high = 22.9%), and 4 (consistent high = 6.3%). A multinomial logistic regression analysis within latent class growth analysis revealed that baseline CUDs related most closely to Classes 3 and 4. The number of ARBs across time correlated .23 for sibling pairs and -.10 for unrelated subjects. Conclusions: Baseline CUDs related to the most severe latent ARB course over time, even when considered along with other trajectory predictors, including baseline alcohol use disorders and maximum number of drinks. Data indicated significant roles for genetic factors for alcohol use disorder patterns over time. Future research is needed to improve understanding of how cannabis adds to the ARB risk and to find genes that contribute to risks for ARBs among drinkers. PMID:27936363

Chimerism and tolerance without GVHD or engraftment syndrome in HLA-mismatched combined kidney and hematopoietic stem cell transplantation.

PubMed

Leventhal, Joseph; Abecassis, Michael; Miller, Joshua; Gallon, Lorenzo; Ravindra, Kadiyala; Tollerud, David J; King, Bradley; Elliott, Mary Jane; Herzig, Geoffrey; Herzig, Roger; Ildstad, Suzanne T

2012-03-07

The toxicity of chronic immunosuppressive agents required for organ transplant maintenance has prompted investigators to pursue approaches to induce immune tolerance. We developed an approach using a bioengineered mobilized cellular product enriched for hematopoietic stem cells (HSCs) and tolerogenic graft facilitating cells (FCs) combined with nonmyeloablative conditioning; this approach resulted in engraftment, durable chimerism, and tolerance induction in recipients with highly mismatched related and unrelated donors. Eight recipients of human leukocyte antigen (HLA)-mismatched kidney and FC/HSC transplants underwent conditioning with fludarabine, 200-centigray total body irradiation, and cyclophosphamide followed by posttransplant immunosuppression with tacrolimus and mycophenolate mofetil. Subjects ranged in age from 29 to 56 years. HLA match ranged from five of six loci with related donors to one of six loci with unrelated donors. The absolute neutrophil counts reached a nadir about 1 week after transplant, with recovery by 2 weeks. Multilineage chimerism at 1 month ranged from 6 to 100%. The conditioning was well tolerated, with outpatient management after postoperative day 2. Two subjects exhibited transient chimerism and were maintained on low-dose tacrolimus monotherapy. One subject developed viral sepsis 2 months after transplant and experienced renal artery thrombosis. Five subjects experienced durable chimerism, demonstrated immunocompetence and donor-specific tolerance by in vitro proliferative assays, and were successfully weaned off all immunosuppression 1 year after transplant. None of the recipients produced anti-donor antibody or exhibited engraftment syndrome or graft-versus-host disease. These results suggest that manipulation of a mobilized stem cell graft and nonmyeloablative conditioning represents a safe, practical, and reproducible means of inducing durable chimerism and donor-specific tolerance in solid organ transplant recipients.

Human EEG responses to controlled alterations of the Earth's magnetic field.

PubMed

Sastre, Antonio; Graham, Charles; Cook, Mary R; Gerkovich, Mary M; Gailey, Paul

2002-09-01

Examine the effects of controlled changes in the Earth's magnetic field on electroencephalogram (EEG) and subjective report. Fifty volunteers were exposed double-blind to changes in field magnitude, angle of inclination, and angle of deviation. Volunteers were also exposed to magnetic field conditions found near the North and South Pole. EEG recorded over temporal and occipital sites was compared across 4s baseline, field exposure, and no-change control trials. No EEG spectral differences as a function of gender or recording site were found. Geomagnetic field alterations had no effect on total energy (0.5-42 Hz), energy within traditional EEG analysis bands, or on the 95% spectral edge. Most volunteers reported no sensations; others reported non-specific symptoms unrelated to type of field change. Three hypothesized field detection mechanisms were not supported: (1) mechanical reception through torque exerted on the ferromagnetic material magnetite; (2) movement-induced induction of an electric field in the body; and (3) enhanced sensitivity due to alterations in the rates of chemical reactions involving electron spin states. Humans have little ability to detect brief alterations in the geomagnetic field, even if these alteration are of a large magnitude.

In vitro infection with Mycobacterium tuberculosis induces a distinct immunological pattern in blood from healthy relatives of tuberculosis patients.

PubMed

Juan-García, Javier; García-García, Silvia; Guerra-Laso, José Manuel; Raposo-García, Sara; Diez-Tascón, Cristina; Nebreda-Mayoral, Teresa; López-Fidalgo, Eduardo; López-Medrano, Ramiro; Fernández-Maraña, Araceli; Rivero-Lezcano, Octavio Miguel

2017-11-30

Part of the susceptibility to tuberculosis has a genetic basis, which is clear in primary immunodeficiencies, but is less evident in apparently immunocompetent subjects. Immune responses were analysed in blood samples from tuberculosis patients and their healthy first-degree relatives who were infected in vitro with mycobacteria (either Mycobacterium tuberculosis or M. bovis BCG). The antimicrobial activity against M. tuberculosis in blood from relatives was significantly lower than that observed in healthy controls. Tuberculosis patients exhibited a higher number of neutrophils, and monocyte phagocytosis was inhibited in both relatives and tuberculosis patients. A remarkable finding was that the production of reactive oxygen species by infected neutrophils was higher in relatives than in healthy controls. A higher production of TNFα in infected blood from relatives was also observed. These results may indicate that relatives display a stronger inflammatory response and that their immune response to M. tuberculosis is different from those of unrelated controls. First-degree relatives may represent a highly informative group for the analysis of tuberculosis susceptibility. © FEMS 2017. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Association of Higher Defensin β-4 Genomic Copy Numbers with Behçet's Disease in Iraqi Patients.

PubMed

Hameed, Ammar F; Jaradat, Sameh; Al-Musawi, Bassam M; Sharquie, Khalifa; Ibrahim, Mazin J; Hayani, Raafa K; Norgauer, Johannes

2015-11-01

Behçet's disease (BD) is an immune-mediated small vessel systemic vasculitis. Human β-defensins are antimicrobial peptides associated with many inflammatory diseases and are encoded by the β-defensin family of multiple-copy genes. However, their role in BD necessitates further investigation. The aim of the present study was to investigate the possible association of BD in its various clinical forms with defensin β-4 (DEFB4) genomic copy numbers. This case-control study was conducted from January to September 2011 and included 50 control subjects and 27 unrelated Iraqi BD patients registered at Baghdad Teaching Hospital, Bagdad, Iraq. Copy numbers of the DEFB4 gene were determined using the comparative cycle threshold method by duplex real-time polymerase chain reaction technology at the Department of Dermatology of Jena University Hospital, Jena, Germany. DEFB4 genomic copy numbers were significantly higher in the BD group compared to the control group (P = 0.010). However, no statistically significant association was found between copy numbers and clinical variables within the BD group. The DEFB4 copy number polymorphism may be associated with BD; however, it is not associated with different clinical manifestations of the disease.

Duration and frequency of migraines affect cognitive function: evidence from neuropsychological tests and event-related potentials.

PubMed

Huang, Lifang; Juan Dong, Hong; Wang, Xi; Wang, Yan; Xiao, Zheman

2017-12-01

The aim of this study was to evaluate the changes in the cognitive performance of migraine patients using a comprehensive series of cognitive/behavioral and electrophysiological tests. A randomized, cross-sectional, within subject approach was used to compare neuropsychological and electrophysiological evaluations from migrane-affected and healthy subjects. Thirty-four patients with migraine (6 males, 28 females, average 36 years old) were included. Migraineurs performed worse in the majority of the Montreal Cognitive Assessment (MoCA) (p = 0.007) compared to the healthy subjects, significantly in language (p = 0.005), memory (p = 0.006), executive functions (p = 0.042), calculation (p = 0.018) and orientation (p = 0.012). Migraineurs had a lower score on the memory trial of the Rey-Osterrieth complex figure test (ROCF) (p = 0.012). The P3 latency in Fz, Cz, Pz was prolonged in migraineurs compared with the normal control group (P < 0.001). In addition, we analyzed significant correlations between MoCA score and the duration of migraine. We also observed that a decrease in the MoCA-executive functions and calculation score and in the ROCF-recall score were both correlated to the frequency of migraine. Migraineurs were more anxious than healthy subjects (p = 0.001), which is independent of cognitive testing. Differences were unrelated to age, gender and literacy. Cognitive performance decreases during migraine, and cognitive dysfunction can be related to the duration and frequency of a migraine attack.

Glucocorticoids reduce phobic fear in humans

PubMed Central

Soravia, Leila M.; Heinrichs, Markus; Aerni, Amanda; Maroni, Caroline; Schelling, Gustav; Ehlert, Ulrike; Roozendaal, Benno; de Quervain, Dominique J.-F.

2006-01-01

Phobias are characterized by excessive fear, cued by the presence or anticipation of a fearful situation. Whereas it is well established that glucocorticoids are released in fearful situations, it is not known whether these hormones, in turn, modulate perceived fear. As extensive evidence indicates that elevated glucocorticoid levels impair the retrieval of emotionally arousing information, they might also inhibit retrieval of fear memory associated with phobia and, thereby, reduce phobic fear. Here, we investigated whether acutely administrated glucocorticoids reduced phobic fear in two double-blind, placebo-controlled studies in 40 subjects with social phobia and 20 subjects with spider phobia. In the social phobia study, cortisone (25 mg) administered orally 1 h before a socio-evaluative stressor significantly reduced self-reported fear during the anticipation, exposure, and recovery phase of the stressor. Moreover, the stress-induced release of cortisol in placebo-treated subjects correlated negatively with fear ratings, suggesting that endogenously released cortisol in the context of a phobic situation buffers fear symptoms. In the spider phobia study, repeated oral administration of cortisol (10 mg), but not placebo, 1 h before exposure to a spider photograph induced a progressive reduction of stimulus-induced fear. This effect was maintained when subjects were exposed to the stimulus again 2 days after the last cortisol administration, suggesting that cortisol may also have facilitated the extinction of phobic fear. Cortisol treatment did not reduce general, phobia-unrelated anxiety. In conclusion, the present findings in two distinct types of phobias indicate that glucocorticoid administration reduces phobic fear. PMID:16567641

Seroreactivity against Merkel cell polyomavirus and other polyomaviruses in chronic lymphocytic leukaemia, the MCC-Spain study.

PubMed

Robles, Claudia; Casabonne, Delphine; Benavente, Yolanda; Costas, Laura; Gonzalez-Barca, Eva; Aymerich, Marta; Campo, Elias; Tardon, Adonina; Jiménez-Moleón, José J; Castaño-Vinyals, Gemma; Dierssen-Sotos, Trinidad; Michel, Angelika; Kranz, Lena; Aragonés, Nuria; Pollan, Marina; Kogevinas, Manolis; Pawlita, Michael; de Sanjose, Silvia

2015-08-01

Merkel cell polyomavirus (MCPyV) has been suspected to cause chronic lymphocytic leukaemia (CLL) but previous data are inconsistent. We measured seroreactivities of nine polyomaviruses (MCPyV, BKPyV, JCPyV, LPyV, KIPyV, WUPyV, HPyV-6, HPyV-7 and TSPyV) in 359 CLL cases and 370 controls using bead-based multiplex serology technology. We additionally tested two herpesviruses (HSV-1 and CMV). Associations between disease and viral seroreactivities were assessed using logistic regression. All human viruses showed high seroprevalences (69-99%) against structural proteins in controls but significantly lower viral seroprevalences in cases (58-94%; OR range = 0.21-0.70, P value < 0.05), except for MCPyV (OR = 0.79, 95% CI = 0.54-1.16). Lower seroreactivity levels were observed among CLL subjects, with significant differences already observed at early stages of disease, unrelated to treatment status. Seroreactivities against polyomavirus related oncoproteins were almost null. Our data suggest no association for MCPyV polyomavirus with CLL development and an unlikely association for other polyomaviruses tested.

Improving Critical Thinking Using a Web-Based Tutorial Environment.

PubMed

Wiesner, Stephen M; Walker, J D; Creeger, Craig R

2017-01-01

With a broad range of subject matter, students often struggle recognizing relationships between content in different subject areas. A scenario-based learning environment (SaBLE) has been developed to enhancing clinical reasoning and critical thinking among undergraduate students in a medical laboratory science program and help them integrate their new knowledge. SaBLE incorporates aspects of both cognitive theory and instructional design, including reduction of extraneous cognitive load, goal-based learning, feedback timing, and game theory. SaBLE is a website application that runs in most browsers and devices, and is used to develop randomly selected scenarios that challenge user thinking in almost any scenario-based instruction. User progress is recorded to allow comprehensive data analysis of changes in user performance. Participation is incentivized using a point system and digital badges or awards. SaBLE was deployed in one course with a total exposure for the treatment group of approximately 9 weeks. When assessing performance of SaBLE participants, and controlling for grade point average as a possible confounding variable, there was a statistically significant correlation between the number of SaBLE levels completed and performance on selected critical-thinking exam questions addressing unrelated content.

IL10 -1082, IL10 -819 and IL10 -592 polymorphisms are associated with chronic periodontitis in a Macedonian population.

PubMed

Atanasovska-Stojanovska, Aneta; Trajkov, Dejan; Popovska, Mirjana; Spiroski, Mirko

2012-07-01

Genetic polymorphisms in the interleukin 10 (IL10) gene have been reported to influence the host response to microbial challenge by altering levels of cytokine expression. We analyzed nucleotide polymorphisms in the promoter region of the IL10 gene and its relation with periodontal disease in a Macedonian population. The study population consisted of 111 unrelated subjects with chronic periodontitis and 299 healthy controls. DNA was isolated and IL10 genotyping performed by PCR-SSP (Heidelberg kit) for the alleles and genotypes of IL10 -1082, IL10 -819 and IL10 -592. Frequencies of IL10 haplotypes and the haplotype zygotes were also examined. Comparisons between groups were tested using the Pearson's p-value. After Bonferroni adjustment, significant associations were detected between subjects with chronic periodontitis and IL10 genotypes (IL10 -1082/A:G was negative or protective and IL10 -1082/G:G was positive or susceptible). Cytokine polymorphism on the IL10 gene appears to be associated with susceptibility to chronic periodontitis in Macedonians. Copyright © 2012 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

Sources of group differences in functional connectivity: an investigation applied to autism spectrum disorder.

PubMed

Jones, Tyler B; Bandettini, Peter A; Kenworthy, Lauren; Case, Laura K; Milleville, Shawn C; Martin, Alex; Birn, Rasmus M

2010-01-01

An increasing number of fMRI studies are using the correlation of low-frequency fluctuations between brain regions, believed to reflect synchronized variations in neuronal activity, to infer "functional connectivity". In studies of autism spectrum disorder (ASD), decreases in this measure of connectivity have been found by focusing on the response to task modulation, by using only the rest periods, or by analyzing purely resting-state data. This difference in connectivity, however, could result from a number of different mechanisms--differences in noise, task-related fluctuations, task performance, or spontaneous neuronal activity. In this study, we investigate the difference in functional connectivity between adolescents with high-functioning ASD and typically developing control subjects by examining the residual fluctuations occurring on top of the fMRI response to an overt verbal fluency task. We find decreased correlations of these residuals (a decreased "connectivity") in ASD subjects. Furthermore, we find that this decrease was not due to task-related effects, block-to-block variations in task performance, or increased noise, and the difference was greatest when primarily rest periods are considered. These findings suggest that the estimate of disrupted functional connectivity in ASD is likely driven by differences in task-unrelated neuronal fluctuations.

Draft Genome Sequence of Pseudomonas putida CA-3, a Bacterium Capable of Styrene Degradation and Medium-Chain-Length Polyhydroxyalkanoate Synthesis

PubMed Central

Almeida, Eduardo L.; Margassery, Lekha M.; O’Leary, Niall

2018-01-01

ABSTRACT Pseudomonas putida strain CA-3 is an industrial bioreactor isolate capable of synthesizing biodegradable polyhydroxyalkanoate polymers via the metabolism of styrene and other unrelated carbon sources. The pathways involved are subject to regulation by global cellular processes. The draft genome sequence is 6,177,154 bp long and contains 5,608 predicted coding sequences. PMID:29371359

Childhood Exposure to Family Violence and Attrition in the Navy

DTIC Science & Technology

2003-02-01

in Treatment of Child Abuse : Common Ground for Mental Health, Medical, and Legal Practitioners, pp. 135-154. Baltimore MD Johns Hopkins University...was associated with early attrition whereas CPA and DV were unrelated to timing of attrition. 14. SUBJECT TERMS attrition, family violence, child ... abuse , recruits 16. SECURITY CLASSIFICATION OF: 18a. NAME OF RESPONSIBLE PERSON Commanding Officer a. REPORT UNCL b.ABSTRACT UNCL C. THIS

Negative Emotions in Migraineurs Dreams: The Increased Prevalence of Oneiric Fear and Anguish, Unrelated to Mood Disorders

PubMed Central

De Angeli, F.; Lovati, C.; Giani, L.; Mariotti D'Alessandro, C.; Raimondi, E.; Scaglione, V.; Castoldi, D.; Capiluppi, E.; Mariani, C.

2014-01-01

Background. Migraineurs brain has shown some functional peculiarities that reflect not only in phonophobia, and photophobia, but also in mood and sleep. Dreaming is a universal mental state characterized by hallucinatory features in which imagery, emotion, motor skills, and memory are created de novo. We evaluated dream contents and associated emotions in migraineurs. Materials and Methods. 412 subjects: 219 controls; and 148 migraineurs (66 with aura, MA; 82 without aura, MO), and 45 tension type headache patients (TTH). A semistructured retrospective self-reported questionnaire was used to evaluate dreams. The Generalized Anxiety Disorder Questionnaire (GAD-7), and the Patient Health Questionnaire (PHQ-9) were administered to evaluate anxiety and depression. Results. Migraineurs showed increased levels of anxiety (P = 0.0002 for MA versus controls, P = 0.004 for MO versus controls). Fear and anguish during dreaming were more frequently reported by migraine patients compared to controls, independently by anxiety and depression scores. Discussion. The brain of migraineurs seems to dream with some peculiar features, all with a negative connotation, as fear and anguish. It may be due to the recorded negative sensations induced by recurrent migraine pain, but it may just reflect a peculiar attitude of the mesolimbic structures of migraineurs brain, activated in both dreaming and migraine attacks. PMID:25049452

Intensive lifestyle intervention provides rapid reduction of serum fatty acid levels in women with severe obesity without lowering omega-3 to unhealthy levels.

PubMed

Lin, C; Andersen, J R; Våge, V; Rajalahti, T; Mjøs, S A; Kvalheim, O M

2016-08-01

Serum fatty acid (FA) levels were monitored in women with severe obesity during intensive lifestyle intervention. At baseline, total FA levels and most individual FAs were elevated compared to a matching cohort of normal and overweight women (healthy controls). After 3 weeks of intensive lifestyle intervention, total level was only 11-12% higher than in the healthy controls and with almost all FAs being significantly lower than at baseline, but with levels of omega-3 being similar to the healthy controls. This is contrary to observations for patients subjected to bariatric surgery where omega-3 levels dropped to levels significantly lower than in the lifestyle patients and healthy controls. During the next 3 weeks of treatment, the FA levels in lifestyle patients were unchanged, while the weight loss continued at almost the same rate as in the first 3 weeks. Multivariate analysis revealed that weight loss and change of serum FA patterns were unrelated outcomes of the intervention for lifestyle patients. For bariatric patients, these processes were associated probably due to reduced dietary input and increased input from the patients' own fat deposits, causing a higher rate of weight loss and simultaneous reduction of the ratio of serum eicosapentaenoic to arachidonic acid. © 2016 World Obesity.

Four Novel Mutations in the ALPL Gene in Chinese patients with Odonto, Childhood and Adult Hypophosphatasia.

PubMed

Xu, Lijun; Pang, Qianqian; Jiang, Yan; Wang, Ou; Li, Mei; Xing, Xiaoping; Xia, Weibo

2018-05-03

Background and purpose: Hypophosphatasiais (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase activity. ALPL , the only gene related with HPP, encodes tissue non-specific alkaline phosphatase (TNSALP). Few studies were carried out in ALPL gene mutations in the Chinese population with HPP. The purpose of this study is to elucidate the clinical and genetic characteristics of HPP in 5 unrelated Chinese families and 2 sporadic patients. Methods : 10 clinically diagnosed HPP patients from 5 unrelated Chinese families and 2 sporadic patients and 50 healthy controls were genetic investigated. All 12 exons and exon-intron boundaries of the ALPL gene were amplified by polymerase chain reaction and directly sequenced. The laboratory and radiological investigations were conducted simultaneously in these 10 HPP patients. A three-dimensional model of the TNSALP was used to predict the dominant negative effect of identified missense mutations. Results : 3 odonto, 3 childhood and 4 adult types of HPP were clinically diagnosed. 10 mutations were identified in 5 unrelated Chinese families and 2 sporadic patients, including 8 missense mutations and 2 frameshift mutations. Of which, 4 were novel: 1 frameshift mutation (p.R138Pfsx45); 3 missense mutations (p.C201R, p.V459A, p.C497S). No identical mutations and any other new ALPL mutations were found in unrelated 50 healthy controls. Conclusions : Our study demonstrated that the ALPL  gene mutations are responsible for HPP in these Chinese families. These findings will be useful for clinicians to improve understanding of this heritable bone disorder. ©2018 The Author(s).

Contributions of Sensory Coding and Attentional Control to Individual Differences in Performance in Spatial Auditory Selective Attention Tasks.

PubMed

Dai, Lengshi; Shinn-Cunningham, Barbara G

2016-01-01

Listeners with normal hearing thresholds (NHTs) differ in their ability to steer attention to whatever sound source is important. This ability depends on top-down executive control, which modulates the sensory representation of sound in the cortex. Yet, this sensory representation also depends on the coding fidelity of the peripheral auditory system. Both of these factors may thus contribute to the individual differences in performance. We designed a selective auditory attention paradigm in which we could simultaneously measure envelope following responses (EFRs, reflecting peripheral coding), onset event-related potentials (ERPs) from the scalp (reflecting cortical responses to sound) and behavioral scores. We performed two experiments that varied stimulus conditions to alter the degree to which performance might be limited due to fine stimulus details vs. due to control of attentional focus. Consistent with past work, in both experiments we find that attention strongly modulates cortical ERPs. Importantly, in Experiment I, where coding fidelity limits the task, individual behavioral performance correlates with subcortical coding strength (derived by computing how the EFR is degraded for fully masked tones compared to partially masked tones); however, in this experiment, the effects of attention on cortical ERPs were unrelated to individual subject performance. In contrast, in Experiment II, where sensory cues for segregation are robust (and thus less of a limiting factor on task performance), inter-subject behavioral differences correlate with subcortical coding strength. In addition, after factoring out the influence of subcortical coding strength, behavioral differences are also correlated with the strength of attentional modulation of ERPs. These results support the hypothesis that behavioral abilities amongst listeners with NHTs can arise due to both subcortical coding differences and differences in attentional control, depending on stimulus characteristics and task demands.

GABA-A receptor beta3 and alpha5 subunit gene cluster on chromosome 15q11-q13 and bipolar disorder: a genetic association study.

PubMed

Papadimitriou, G N; Dikeos, D G; Karadima, G; Avramopoulos, D; Daskalopoulou, E G; Stefanis, C N

2001-05-08

There is accumulated evidence that the genes coding for the receptor of gamma aminobutyric acid (GABA), the most important inhibitory neurotransmitter in the CNS, may be involved in the pathogenesis of affective disorders. In a previous study, we have found a genetic association between the GABA-A receptor alpha5 subunit gene locus (GABRA5) on chromosome 15q11-of 13 and bipolar affective disorder. The aim of the present study was to examine the same subjects to see if there exists a genetic association between bipolar affective disorder and the GABA receptor beta3 subunit gene (GABRB3), which is located within 100 kb from GABRA5. The sample consisted of 48 bipolar patients compared to 44 controls (blood donors). All subjects were Greek, unrelated, and personally interviewed. Diagnosis was based on DSM-IV and ICD-10 criteria. The marker used was a dinucleotide (CA) repeat polymorphism with 12 alleles 179 to 201 bp long; genotyping was successful in all patients and 43 controls. The distribution of GABRB3 genotypes among the controls did not deviate significantly from the Hardy-Weinberg equilibrium. No differences in allelic frequencies between bipolar patients and controls were found for GABRB3, while this locus and GABRA5 did not seem to be in significant linkage disequilibrium. In conclusion, the GABRB3 CA-repeat polymorphism we investigated does not present the observed association between bipolar affective illness and GABRA5. This could be due to higher mutation rate in the GABRB3 CA-repeat polymorphism, but it might also signify that GABRA5 is the gene actually associated with the disease. Copyright 2001 Wiley-Liss, Inc.

Inheritance of proportionate dwarfism in Angus cattle.

PubMed

Latter, M R; Latter, B D H; Wilkins, J F; Windsor, P A

2006-04-01

To determine the mode of inheritance of congenital proportionate dwarfism in Angus and Angus crossbred cattle, initially detected in two commercial beef herds in northern New South Wales. Matings of normal carrier sires to unrelated cows of diverse breeds, and of one carrier sire to his unaffected daughters. An unrelated Piedmontese bull was also mated to unaffected daughters of the carrier sires. Two carrier Angus bulls and nine unaffected daughters, all of whom were completely indistinguishable from normal animals, were purchased for controlled breeding studies under known nutritional and disease conditions. Affected and carrier individuals were examined for the presence of obvious chromosomal abnormalities. Angus dwarfism has been successfully reproduced under controlled experimental conditions over successive years using unrelated dams and is undoubtedly heritable. The high frequency of occurrence of affected individuals (23/61 = 0.38 +/- .06) among the progeny of matings of the Angus sires to unrelated females of diverse breeding is not compatible with recessive inheritance, because of the negligible frequency of proportionate dwarfism in the breeds of the dams. Both paternal and maternal transmission of the defect was demonstrated, so that imprinting in the strict sense of a gene that is only expressed when received from the male parent appears not to be involved. Tested individuals showed no evidence of gross chromosomal abnormality. Dominant autosomal inheritance with incomplete penetrance was indicated by the lack of expression of the defective gene in the two Angus sires and in three unaffected daughters who produced dwarf calves from matings to the Piedmontese bull. The mode of inheritance is that of a single autosomal dominant gene with a penetrance coefficient of 0.75 +/- 0.12, estimated from the observed incidence of 23/61 affected offspring of the two carrier Angus bulls mated to unrelated dams. Simple genetic models involving either (i) an unstable mutant which changes at high frequency to the expressed dominant dwarfing allele during gametogenesis, or (ii) a dominant allele with penetrance determined by an unlinked modifying locus, are shown to be compatible with the experimental data. Both models indicate that penetrance of the dwarfing gene may possibly be higher in matings involving carrier daughters of the two Angus bulls.

Qualitative assessment of bone density at the distal articulating surface of the third metacarpal in Thoroughbred racehorses with and without condylar fracture.

PubMed

Loughridge, A B; Hess, A M; Parkin, T D; Kawcak, C E

2017-03-01

Changes in subchondral bone density, induced by the repetitive cyclical loading of exercise, may potentiate fatigue damage and the risk of fracture. To use computed tomography (CT) to characterise bone density patterns at the articular surface of the third metacarpal bone in racehorses with and without lateral condylar fractures. Case control METHODS: Computed tomographic images of the distal articulating surface of the third metacarpal bone were obtained from Thoroughbred racehorses subjected to euthanasia in the UK. Third metacarpal bones were divided into 3 groups based on lateral condyle status; fractured (FX, n = 42), nonfractured contralateral condyle (NFX, n = 42) and control condyles from horses subjected to euthanasia for reasons unrelated to the third metacarpal bone (control, n = 94). Colour CT images were generated whereby each colour represented a range of pixel values and thus a relative range of bone density. A density value was calculated qualitatively by estimating the percentage of each colour within a specific region. Subchondral bone density was assessed in 6 regions from dorsal to palmar and 1 mm medial and lateral to the centre of the lateral parasagittal groove in NFX and control condyles and 1 mm medial and lateral to the fracture in FX condyles. Bone density was significantly higher in the FX and NFX condyles compared with control condyles for all 6 regions. A significantly higher bone density was observed in FX condyles relative to NFX condyles in the lateral middle and lateral palmar regions. Fractured condyles had increased heterogeneity in density among the 6 regions of interest compared with control and NFX condyles. Adjacent to the fracture, a focal increase in bone density and increased heterogeneity of density were characteristic of limbs with lateral condylar fractures compared with control and NFX condyles. These differences may represent pathological changes in bone density that increase the risk for lateral condylar fractures in racehorses. © 2015 EVJ Ltd.

Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology-Oncology).

PubMed

Svahn, Johanna; Bagnasco, Francesca; Cappelli, Enrico; Onofrillo, Daniela; Caruso, Silvia; Corsolini, Fabio; De Rocco, Daniela; Savoia, Anna; Longoni, Daniela; Pillon, Marta; Marra, Nicoletta; Ramenghi, Ugo; Farruggia, Piero; Locasciulli, Anna; Addari, Carmen; Cerri, Carla; Mastrodicasa, Elena; Casazza, Gabriella; Verzegnassi, Federico; Riccardi, Francesca; Haupt, Riccardo; Barone, Angelica; Cesaro, Simone; Cugno, Chiara; Dufour, Carlo

2016-07-01

We analyzed 97 Fanconi anemia patients from a clinic/biological database for genotype, somatic, and hematologic phenotype, adverse hematological events, solid tumors, and treatment. Seventy-two patients belonged to complementation group A. Eighty percent of patients presented with mild/moderate somatic phenotype and most with cytopenia. No correlation was seen between somatic/hematologic phenotype and number of missense mutations of FANCA alleles. Over follow-up, 33% of patients improved or maintained mild/moderate cytopenia or normal blood count, whereas remaining worsened cytopenia. Eleven patients developed a hematological adverse event (MDS, AML, pathological cytogenetics) and three developed solid tumors. 10 years cumulative risk of death of the whole cohort was 25.6% with median follow-up 5.8 years. In patients eligible to hematopoietic stem cell transplantation because of moderate cytopenia, mortality was significantly higher in subjects transplanted from matched unrelated donor over nontransplanted subjects, whereas there was no significant difference between matched sibling donor transplants and nontransplanted patients. In patients eligible to transplant because of severe cytopenia and clonal disease, mortality risk was not significantly different in transplanted from matched unrelated versus matched sibling donor versus nontransplanted subjects. The decision to transplant should rely on various elements including, type of donor, HLA matching, patient comorbidities, impairment, and clonal evolution of hematopoiesis. Am. J. Hematol. 91:666-671, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

A sib-pair study of the Temperament and Character Inventory scales in major depression.

PubMed

Farmer, Anne; Mahmood, Arshad; Redman, Kate; Harris, Tanya; Sadler, Stephanie; McGuffin, Peter

2003-05-01

Certain aspects of the personality may be associated with the vulnerability to develop depression. A sib-pair method has been used to examine the familiality of the 7 scales of the Temperament and Character Inventory (TCI) and whether this could be related to the genetic vulnerability to develop depression. Probands with depression and their nearest-aged siblings from Wales were compared with healthy control probands and their nearest-aged siblings on the TCI and measures of depressed mood. All 7 scales of the TCI were familial, and scores on 6 of the scales were similar to US population scores. However, the Welsh subjects' scores on the self-transcendence scale were markedly lower than the US mean, suggesting strong cultural or national influences on this measure. Harm avoidance scores were substantially influenced by current and past depression, but this scale also showed stable traitlike characteristics that are likely related to the genetic vulnerability to depression. Novelty seeking and self-directedness were also partly state-dependent and were negatively correlated with low mood; high scorers may be resilient to the development of depression. High reward dependence may also protect against the development of depression and is unrelated to mood state. The cooperativeness, persistence, and self-transcendence scales appear to have a limited relationship with the development of depression. Harm avoidance, reward dependence, novelty seeking, and self-directedness have traitlike characteristics that are related to the familiality of depression. Cooperativeness, self-transcendence, and persistence are also familial, but this appears to be unrelated to depression.

Dynamic interactions between arterial pressure and sympathetic nerve activity: role of arterial baroreceptors.

PubMed

Julien, Claude; Chapuis, Bruno; Cheng, Yong; Barrès, Christian

2003-10-01

The role of arterial baroreceptors in controlling arterial pressure (AP) variability through changes in sympathetic nerve activity was examined in conscious rats. AP and renal sympathetic nerve activity (RSNA) were measured continuously during 1-h periods in freely behaving rats that had been subjected to sinoaortic baroreceptor denervation (SAD) or a sham operation 2 wk before study (n = 10 in each group). Fast Fourier transform analysis revealed that chronic SAD did not alter high-frequency (0.75-5 Hz) respiratory-related oscillations of mean AP (MAP) and RSNA, decreased by approximately 50% spectral power of both variables in the midfrequency band (MF, 0.27-0.74 Hz) containing the so-called Mayer waves, and induced an eightfold increase in MAP power without altering RSNA power in the low-frequency band (0.005-0.27 Hz). In both groups of rats, coherence between RSNA and MAP was maximal in the MF band and was usually weak at lower frequencies. In SAD rats, the transfer function from RSNA to MAP showed the characteristics of a second-order low-pass filter containing a fixed time delay ( approximately 0.5 s). These results indicate that arterial baroreceptors are not involved in production of respiratory-related oscillations of RSNA but play a major role in the genesis of synchronous oscillations of MAP and RSNA at the frequency of Mayer waves. The weak coupling between slow fluctuations of RSNA and MAP in sham-operated and SAD rats points to the interference of noise sources unrelated to RSNA affecting MAP and of noise sources unrelated to MAP affecting RSNA.

Effects of Delay and Number of Related List Items on Implicit Activation for DRM Critical Items in a Speeded Naming Task

ERIC Educational Resources Information Center

Meade, Michelle L.; Hutchison, Keith A.; Rand, Kristina M.

2010-01-01

Two experiments examined decay and additivity of semantic priming produced by DRM false memory lists on a naming task. Subjects were presented with study lists containing 14 DRM items that were either all 14 related, the first 7 related, the second 7 related, or all 14 unrelated to the non-presented critical item. Priming was measured on a naming…

Perception and the Temporal Properties of Speech.

DTIC Science & Technology

1993-01-11

conditions. In the embedded condition, phoneme sequences equivalent to these words formed the second syllable of a two-syllable word. In the unembedded ... unembedded in the sequence "warm lips". These priming sequences were based on the sequences used in Experiment 2. Each combinable priming sequence in...unrelated, to the embedded or unembedded prime word. The probes used in this experiment were identical to the ones used in Experiment 2. Subjects were tested

Draft Genome Sequence of Pseudomonas putida CA-3, a Bacterium Capable of Styrene Degradation and Medium-Chain-Length Polyhydroxyalkanoate Synthesis.

PubMed

Almeida, Eduardo L; Margassery, Lekha M; O'Leary, Niall; Dobson, Alan D W

2018-01-25

Pseudomonas putida strain CA-3 is an industrial bioreactor isolate capable of synthesizing biodegradable polyhydroxyalkanoate polymers via the metabolism of styrene and other unrelated carbon sources. The pathways involved are subject to regulation by global cellular processes. The draft genome sequence is 6,177,154 bp long and contains 5,608 predicted coding sequences. Copyright © 2018 Almeida et al.

Co-Localisation of Abnormal Brain Structure and Function in Specific Language Impairment

ERIC Educational Resources Information Center

Badcock, Nicholas A.; Bishop, Dorothy V. M.; Hardiman, Mervyn J.; Barry, Johanna G.; Watkins, Kate E.

2012-01-01

We assessed the relationship between brain structure and function in 10 individuals with specific language impairment (SLI), compared to six unaffected siblings, and 16 unrelated control participants with typical language. Voxel-based morphometry indicated that grey matter in the SLI group, relative to controls, was increased in the left inferior…

Allergen-stimulated T lymphocytes from allergic patients induce vascular cell adhesion molecule-1 (VCAM-1) expression and IL-6 production by endothelial cells.

PubMed Central

Delneste, Y; Jeannin, P; Gosset, P; Lassalle, P; Cardot, E; Tillie-Leblond, I; Joseph, M; Pestel, J; Tonnel, A B

1995-01-01

Adhesion of inflammatory cells to endothelium is a critical step for their transvascular migration to inflammatory sites. To evaluate the relationship between T lymphocytes (TL) and vascular endothelium, supernatants from allergen-stimulated TL obtained from patients sensitive to Dermatophagoides pteronyssinus (Dpt) versus healthy subjects were added to endothelial cell (EC) cultures. TL were stimulated by autologous-activated antigen-presenting cells (APC) previously fixed in paraformaldehyde to prevent monokine secretion. Two parameters were measured: the expression of adhesion molecule and the production of IL-6. Related allergen-stimulated TL supernatants from allergic patients induced an increase of VCAM-1 and intercellular adhesion molecule-1 (ICAM-1) expression when supernatants of the control groups (TL exposed to an unrelated allergen or not stimulated or TL obtained from healthy subjects) did not. E-selectin expression was not modulated whatever the supernatant added to EC culture. IL-6 production by EC was significantly enhanced after activation with related allergen-stimulated TL supernatants from allergics compared with control supernatants. Induction of VCAM-1 expression was inhibited by adding neutralizing antibodies against IL-4, whereas IL-6 production and ICAM-1 expression were inhibited by anti-interferon-gamma (IFN-gamma) antibodies. Enhanced production of IL-4 and IFN-gamma was detected in related allergen-stimulated TL supernatants from allergic subjects compared with the different supernatants. These data suggest that allergen-specific TL present in the peripheral blood of allergic patients are of Th1 and Th2 subtypes. Their stimulation in allergic patients may lead to the activation of endothelial cells and thereby participate in leucocyte recruitment towards the inflammatory site. PMID:7542574

[Tolerance and chronic acceptability of lupine (Lupinus albus var. Multolupa) flour for feeding of young adults].

PubMed

Gattás Zaror, V; Barrera Acevedo, G; Yáñez Soto, E; Uauy-Dagach Imbarack, R

1990-12-01

Cookies enriched with sweet lupin flour were tested for their acceptability and tolerance in young adults, and compared with control cookies. A number of hematological, hepatic and renal tests were performed, as well as the measurement of allergic response, in order to detect possible changes induced by lupin. The study included 31 young adults assigned to two groups which comprised males and females, with mean ages of 26 +/- 6.5, and 27 +/- 5.9 years, respectively. The protein and energy intakes of the subjects were calculated, prior to the study, using the methods of dietary history and the 24-hr recall method. The subjects were free of any abnormalities detectable by medical history, physical examination, biochemical and hematological tests. Body weight and height were measured before the beginning of the study. The ratio weight/height of the individuals was calculated using the Jelliffe's standards. The mean values for the calorie and protein intakes were 1,919 kcal (SD +/- 655) and 59.3 g (SD +/- 22.7). The calorie contents of the control and experimental cookies were 507 and 610 kcal respectively, while the protein contents were 8.4 g and 24.1 g, respectively. The body weight of subjects in both groups increased significantly during the study (P less than 0.01 and P less than 0.02). No significant changes were recorded for other anthropometric parameters, except for the tricipital skinfold (P less than 0.01). Changes observed in hematological parameters were judged to be unrelated to lupin flour. The acceptability and tolerance to high levels of lupin flour were good. The above-mentioned results show that sweet lupin flour is a good and safe source of energy and protein for adults.

Meditation and Music Improve Memory and Cognitive Function in Adults with Subjective Cognitive Decline: A Pilot Randomized Controlled Trial.

PubMed

Innes, Kim E; Selfe, Terry Kit; Khalsa, Dharma Singh; Kandati, Sahiti

2017-01-01

While effective therapies for preventing or slowing cognitive decline in at-risk populations remain elusive, evidence suggests mind-body interventions may hold promise. In this study, we assessed the effects of Kirtan Kriya meditation (KK) and music listening (ML) on cognitive outcomes in adults experiencing subjective cognitive decline (SCD), a strong predictor of Alzheimer's disease. Sixty participants with SCD were randomized to a KK or ML program and asked to practice 12 minutes/day for 3 months, then at their discretion for the ensuing 3 months. At baseline, 3 months, and 6 months we measured memory and cognitive functioning [Memory Functioning Questionnaire (MFQ), Trail-making Test (TMT-A/B), and Digit-Symbol Substitution Test (DSST)]. The 6-month study was completed by 53 participants (88%). Participants performed an average of 93% (91% KK, 94% ML) of sessions in the first 3 months, and 71% (68% KK, 74% ML) during the 3-month, practice-optional, follow-up period. Both groups showed marked and significant improvements at 3 months in memory and cognitive performance (MFQ, DSST, TMT-A/B; p's≤0.04). At 6 months, overall gains were maintained or improved (p's≤0.006), with effect sizes ranging from medium (DSST, ML group) to large (DSST, KK group; TMT-A/B, MFQ). Changes were unrelated to treatment expectancies and did not differ by age, gender, baseline cognition scores, or other factors. Findings of this preliminary randomized controlled trial suggest practice of meditation or ML can significantly enhance both subjective memory function and objective cognitive performance in adults with SCD, and may offer promise for improving outcomes in this population.

Abnormal expression and functional characteristics of cyclic adenosine monophosphate response element binding protein in postmortem brain of suicide subjects.

PubMed

Dwivedi, Yogesh; Rao, Jagadeesh Sridhara; Rizavi, Hooriyah S; Kotowski, Jacek; Conley, Robert R; Roberts, Rosalinda C; Tamminga, Carol A; Pandey, Ghanshyam N

2003-03-01

Cyclic adenosine monophosphate response element binding protein (CREB) is a transcription factor that, on phosphorylation by protein kinases, is activated, and in response, regulates the transcription of many neuronally expressed genes. In view of the recent observations that catalytic properties and/or expression of many kinases that mediate their physiological responses through the activation of CREB are altered in the postmortem brain of subjects who commit suicide (hereafter referred to as suicide subjects), we examined the status of CREB in suicidal behavior. These studies were performed in Brodmann area (BA) 9 and hippocampus obtained from 26 suicide subjects and 20 nonpsychiatric healthy control subjects. Messenger RNA levels of CREB and neuron-specific enolase were determined in total RNA by means of quantitative reverse transcriptase-polymerase chain reaction. Protein levels and the functional characteristics of CREB were determined in nuclear fractions by means of Western blot and cyclic adenosine monophosphate response element (CRE)-DNA binding activity, respectively. In the same nuclear fraction, we determined the catalytic activity of cyclic adenosine monophosphate-stimulated protein kinase A by means of enzymatic assay. We observed a significant reduction in messenger RNA and protein levels of CREB, CRE-DNA binding activity, and basal and cyclic adenosine monophosphate-stimulated protein kinase A activity in BA 9 and hippocampus of suicide subjects, without any change in messenger RNA levels of neuron-specific enolase in BA 9. Except for protein kinase A activity, changes in CREB expression and CRE-DNA binding activity were present in all suicide subjects, irrespective of diagnosis. These changes were unrelated to postmortem intervals, age, sex, or antidepressant treatment. Given the significance of CREB in mediating various physiological functions through gene transcription, our results of decreased expression and functional characteristics of CREB in postmortem brain of suicide subjects suggest that CREB may play an important role in suicidal behavior.

Peripheral blood gene expression signature differentiates children with autism from unaffected siblings

PubMed Central

Kong, SW; Shimizu-Motohashi, Y; Campbell, MG; Lee, IH; Collins, CD; Brewster, SJ; Holm, IA; Rappaport, L

2013-01-01

Autism spectrum disorder (ASD) is one of the most prevalent neurodevelopmental disorders with high heritability, yet a majority of genetic contribution to pathophysiology is not known. Siblings of individuals with ASD are at increased risk for ASD and autistic traits, but the genetic contribution for simplex families is estimated to be less when compared to multiplex families. To explore the genomic (dis-) similarity between proband and unaffected sibling in simplex families, we used genome-wide gene expression profiles of blood from 20 proband-unaffected sibling pairs and 18 unrelated control individuals. The global gene expression profiles of unaffected siblings were more similar to those from probands as they shared genetic and environmental background. One hundred eighty nine genes were significantly differentially expressed between proband-sib pairs (nominal p-value < 0.01) after controlling for age, sex, and family effects. Probands and siblings were distinguished into two groups by cluster analysis with these genes. Overall, unaffected siblings were equally distant from the centroid of probands and from that of unrelated controls with the differentially expressed genes. Interestingly, 5 of 20 siblings had gene expression profiles that were more similar to unrelated controls than to their matched probands. In summary, we found a set of genes that distinguished probands from the unaffected siblings, and a subgroup of unaffected siblings who were more similar to probands. The pathways that characterized probands compared to siblings using peripheral blood gene expression profiles were the up-regulation of ribosomal, spliceosomal, and mitochondrial pathways, and the down-regulation of neuroreceptor-ligand, immune response and calcium signaling pathways. Further integrative study with structural genetic variations such as de novo mutations, rare variants, and copy number variations would clarify whether these transcriptomic changes are structural or environmental in origin. PMID:23625158

Lexical selection in the semantically blocked cyclic naming task: the role of cognitive control and learning

PubMed Central

Crowther, Jason E.; Martin, Randi C.

2014-01-01

Studies of semantic interference in language production have provided evidence for a role of cognitive control mechanisms in regulating the activation of semantic competitors during naming. The present study investigated the relationship between individual differences in cognitive control abilities, for both younger and older adults, and the degree of semantic interference in a blocked cyclic naming task. We predicted that individuals with lower working memory capacity (as measured by word span), lesser ability to inhibit distracting responses (as measured by Stroop interference), and a lesser ability to resolve proactive interference (as measured by a recent negatives task) would show a greater increase in semantic interference in naming, with effects being larger for older adults. Instead, measures of cognitive control were found to relate to specific indices of semantic interference in the naming task, rather than overall degree of semantic interference, and few interactions with age were found, with younger and older adults performing similarly. The increase in naming latencies across naming trials within a cycle was negatively correlated with word span for both related and unrelated conditions, suggesting a strategy of narrowing response alternatives based upon memory for the set of item names. Evidence for a role of inhibition in response selection was obtained, as Stroop interference correlated positively with the change in naming latencies across cycles for the related, but not unrelated, condition. In contrast, recent negatives interference correlated negatively with the change in naming latencies across unrelated cycles, suggesting that individual differences in this tap the degree of strengthening of links in a lexical network based upon prior exposure. Results are discussed in terms of current models of lexical selection and consequences for word retrieval in more naturalistic production. PMID:24478675

Nucleus accumbens response to food cues predicts subsequent snack consumption in women and increased body mass index in those with reduced self-control.

PubMed

Lawrence, Natalia S; Hinton, Elanor C; Parkinson, John A; Lawrence, Andrew D

2012-10-15

Individuals have difficulty controlling their food consumption, which is due in part to the ubiquity of tempting food cues in the environment. Individual differences in the propensity to attribute incentive (motivational) salience to and act on these cues may explain why some individuals eat more than others. Using fMRI in healthy women, we found that food cue related activity in the nucleus accumbens, a key brain region for food motivation and reward, was related to subsequent snack food consumption. However, both nucleus accumbens activation and snack food consumption were unrelated to self-reported hunger, or explicit wanting and liking for the snack. In contrast, food cue reactivity in the ventromedial prefrontal cortex was associated with subjective hunger/appetite, but not with consumption. Whilst the food cue reactivity in the nucleus accumbens that predicted snack consumption was not directly related to body mass index (BMI), it was associated with increased BMI in individuals reporting low self-control. Our findings reveal a neural substrate underpinning automatic environmental influences on consumption in humans and demonstrate how self-control interacts with this response to predict BMI. Our data provide support for theoretical models that advocate a 'dual hit' of increased incentive salience attribution to food cues and poor self-control in determining vulnerability to overeating and overweight. Copyright © 2012 Elsevier Inc. All rights reserved.

Auditory P300 event related potentials in acute and transient psychosis-Comparison with schizophrenia.

PubMed

Sahoo, Swapnajeet; Malhotra, Savita; Basu, Debasish; Modi, Manish

2016-10-01

Limited biological research data are available on acute and transient psychotic disorder (ATPD) vis-à-vis schizophrenia. P300 event related potentials (ERP) have been extensively studied as an important neurophysiological parameter in schizophrenia. However, no P300 ERP studies comparing the two disorders are available. We compared auditory P300 ERP in patients remitted from ATPD with schizophrenia in remission and biologically unrelated healthy controls. In this case-control study design, 25 subjects remitted from ATPD were age-/gender-matched with healthy controls and patients with schizophrenia in remission. Clinical assessment and auditory P300 ERP (amplitude and latencies at central and parietal sites, reaction time) were recorded. The ERP parameters were compared across the three groups. All three groups showed significant differences in P300 amplitudes and latencies at central and parietal sites. Schizophrenia group differed significantly (p<0.001) from the ATPD group in all the P300 parameters. The ATPD group was found to have lower Pz latency (p<0.05) and lower mean reaction time (p<0.001) as compared to healthy controls. The results suggest that P300 could easily distinguish between ATPD and schizophrenia in remission, thus neurophysiologically differentiating the two disorders. Lower P300 latency and reaction time, which indicate hyper-arousability, distinguished ATPD from normal controls, with implications for a better understanding of ATPD. Copyright © 2016 Elsevier B.V. All rights reserved.

Pathway-based outlier method reveals heterogeneous genomic structure of autism in blood transcriptome

PubMed Central

2013-01-01

Background Decades of research strongly suggest that the genetic etiology of autism spectrum disorders (ASDs) is heterogeneous. However, most published studies focus on group differences between cases and controls. In contrast, we hypothesized that the heterogeneity of the disorder could be characterized by identifying pathways for which individuals are outliers rather than pathways representative of shared group differences of the ASD diagnosis. Methods Two previously published blood gene expression data sets – the Translational Genetics Research Institute (TGen) dataset (70 cases and 60 unrelated controls) and the Simons Simplex Consortium (Simons) dataset (221 probands and 191 unaffected family members) – were analyzed. All individuals of each dataset were projected to biological pathways, and each sample’s Mahalanobis distance from a pooled centroid was calculated to compare the number of case and control outliers for each pathway. Results Analysis of a set of blood gene expression profiles from 70 ASD and 60 unrelated controls revealed three pathways whose outliers were significantly overrepresented in the ASD cases: neuron development including axonogenesis and neurite development (29% of ASD, 3% of control), nitric oxide signaling (29%, 3%), and skeletal development (27%, 3%). Overall, 50% of cases and 8% of controls were outliers in one of these three pathways, which could not be identified using group comparison or gene-level outlier methods. In an independently collected data set consisting of 221 ASD and 191 unaffected family members, outliers in the neurogenesis pathway were heavily biased towards cases (20.8% of ASD, 12.0% of control). Interestingly, neurogenesis outliers were more common among unaffected family members (Simons) than unrelated controls (TGen), but the statistical significance of this effect was marginal (Chi squared P < 0.09). Conclusions Unlike group difference approaches, our analysis identified the samples within the case and control groups that manifested each expression signal, and showed that outlier groups were distinct for each implicated pathway. Moreover, our results suggest that by seeking heterogeneity, pathway-based outlier analysis can reveal expression signals that are not apparent when considering only shared group differences. PMID:24063311

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

PubMed Central

Lalani, Seema R.; Liu, Pengfei; Rosenfeld, Jill A.; Watkin, Levi B.; Chiang, Theodore; Leduc, Magalie S.; Zhu, Wenmiao; Ding, Yan; Pan, Shujuan; Vetrini, Francesco; Miyake, Christina Y.; Shinawi, Marwan; Gambin, Tomasz; Eldomery, Mohammad K.; Akdemir, Zeynep Hande Coban; Emrick, Lisa; Wilnai, Yael; Schelley, Susan; Koenig, Mary Kay; Memon, Nada; Farach, Laura S.; Coe, Bradley P.; Azamian, Mahshid; Hernandez, Patricia; Zapata, Gladys; Jhangiani, Shalini N.; Muzny, Donna M.; Lotze, Timothy; Clark, Gary; Wilfong, Angus; Northrup, Hope; Adesina, Adekunle; Bacino, Carlos A.; Scaglia, Fernando; Bonnen, Penelope E.; Crosson, Jane; Duis, Jessica; Maegawa, Gustavo H.B.; Coman, David; Inwood, Anita; McGill, Jim; Boerwinkle, Eric; Graham, Brett; Beaudet, Art; Eng, Christine M.; Hanchard, Neil A.; Xia, Fan; Orange, Jordan S.; Gibbs, Richard A.; Lupski, James R.; Yang, Yaping

2016-01-01

The underlying genetic etiology of rhabdomyolysis remains elusive in a significant fraction of individuals presenting with recurrent metabolic crises and muscle weakness. Using exome sequencing, we identified bi-allelic mutations in TANGO2 encoding transport and Golgi organization 2 homolog (Drosophila) in 12 subjects with episodic rhabdomyolysis, hypoglycemia, hyperammonemia, and susceptibility to life-threatening cardiac tachyarrhythmias. A recurrent homozygous c.460G>A (p.Gly154Arg) mutation was found in four unrelated individuals of Hispanic/Latino origin, and a homozygous ∼34 kb deletion affecting exons 3–9 was observed in two families of European ancestry. One individual of mixed Hispanic/European descent was found to be compound heterozygous for c.460G>A (p.Gly154Arg) and the deletion of exons 3–9. Additionally, a homozygous exons 4–6 deletion was identified in a consanguineous Middle Eastern Arab family. No homozygotes have been reported for these changes in control databases. Fibroblasts derived from a subject with the recurrent c.460G>A (p.Gly154Arg) mutation showed evidence of increased endoplasmic reticulum stress and a reduction in Golgi volume density in comparison to control. Our results show that the c.460G>A (p.Gly154Arg) mutation and the exons 3–9 heterozygous deletion in TANGO2 are recurrent pathogenic alleles present in the Latino/Hispanic and European populations, respectively, causing considerable morbidity in the homozygotes in these populations. PMID:26805781

Health-related behavior, profile of health locus of control and acceptance of illness in patients suffering from chronic somatic diseases.

PubMed

Janowski, Konrad; Kurpas, Donata; Kusz, Joanna; Mroczek, Bozena; Jedynak, Tomasz

2013-01-01

The purpose of the study was to determine health-related behaviors, profile of health locus of control (HLC), and to assess the relationships between these constructs among patients suffering from chronic somatic diseases. Three-hundred adult patients suffering from various chronic diseases participated in the study. The patients' mean age was 54.6 years (SD = 17.57). No statistically significant differences were found between the different clinical groups in health-related behavior, acceptance of illness, internal HLC or chance HLC. Patients with neurologic conditions showed slightly lower powerful others HLC than did some other clinical groups. Health-related behavior was significantly positively related to all three categories of HLC, with most prominent associations observed with powerful others HLC. Only one type of health-related behavior--preventive behavior--correlated significantly and negatively with acceptance of illness. Differences in the frequency of health-related behavior were also found due to gender (women showing more healthy nutritional habits than men), age (older subjects showing more frequent health-promoting behavior), education (higher education was associated with less frequent health-promoting behavior) and marital status (widowed subjects reporting more frequent health-promoting behavior). Health-related behavior in patients with chronic diseases seems to be unrelated to a specific diagnosis; however it shows associations with both internal and external HLC. Sociodemographic factors are also crucial factors determining frequency of health-related behavior in such patients.

Delineating potential mechanisms of implicit alcohol cognitions: drinking restraint, negative affect, and their relationship with approach alcohol associations.

PubMed

Cohn, Amy M; Cameron, Amy Y; Udo, Tomoko; Hagman, Brett T; Mitchell, Jessica; Bramm, Stephanie; Ehlke, Sarah

2012-06-01

Problem drinkers may use alcohol to avoid negative mood states and may develop implicit cognitive associations between negative emotional states and reinforcing properties of drinking. It is paradoxical that attempts to control drinking, such as among those high in drinking restraint, may inadvertently increase desire to drink and subsequent alcohol consumption, and this may be exaggerated under times of emotional distress when urges to drink are high. We examined whether individuals who are high on drinking restraint would demonstrate stronger alcohol-related thoughts elicited by stimuli that represent the desire to use alcohol, in response to stronger versus weaker negative mood arousal. Seventy hazardous drinkers completed measurements of drinking restraint, alcohol consumption, and consequences of use. After being randomized to view negative or positive pictures sets, participants completed an Implicit Association Task (IAT) to test differences in the strength of the association between desire to approach or avoid alcohol or water cues, and then a measurement of subjective craving following the IAT. Regression analyses showed that trait restriction not temptation was positively related to IAT scores, after controlling for relevant covariates and explained 7% of the total variance. Trait temptation not IAT predicted subjective craving. Negative affect was unrelated to IAT scores, singly or in conjunction with measures of drinking restraint, contrary to predictions. In sum, implicit alcohol cognitions are related to attempts to restrict drinking not temptation to drink and are less strongly influenced by mood state.

Treatment of molluscum contagiosum with an East Indian sandalwood oil product.

PubMed

Haque, Malika; Coury, Daniel L

2017-11-22

To evaluate the safety and efficacy of an East Indian sandalwood oil (EISO) product as a topical treatment for molluscum contagiosum. Ten subjects ranging in age from 22 months to 29 years were recruited. Subjects were instructed to apply an EISO product to the lesions twice daily. Subjects were monitored every two to three weeks during the study and were questioned regarding local or systemic side effects. Assessment of response was recorded by counting lesions and documented by photographs. Nine of ten subjects (90%) experienced complete resolution of molluscum lesions within the twelve week study period. Response was unrelated to lesion size or number, how long the molluscum rash had been present, or patient age or gender. There were no complaints of side effects, skin irritation, pain, or other adverse events reported in any subjects. In this pilot open label study, an EISO product proved to be an effective treatment for molluscum contagiosum lesions with resolution of lesions typically occurring within twelve weeks of therapy.

When Slights Beget Slights: Attachment Anxiety, Subjective Time, and Intrusion of the Relational Past in the Present.

PubMed

Cortes, Kassandra; Wilson, Anne E

2016-12-01

Every close relationship has a history, but how people manage their relational past varies and can have important implications in the present. The current research investigated the role of subjective representation of time: How feeling subjectively close (vs. distant) to a past relational transgression (vs. kind act) predicted "kitchen thinking"-the tendency to bring to mind relational past memories in new, unrelated contexts. We explored the role of attachment anxiety as a predictor of subjective time perception and kitchen thinking. We found support for our hypothesis that when negative memories felt subjectively closer relative to positive memories, people were more likely to kitchen think (Studies 1-3). Kitchen thinking, in turn, predicted negative relationship outcomes (Study 4). Furthermore, people high (vs. low) in attachment anxiety were less likely to perceive the timing of their relational memories adaptively, accounting for more kitchen thinking and in turn, maladaptive relational outcomes. © 2016 by the Society for Personality and Social Psychology, Inc.

Combined Bicarbonate Conductance-Impairing Variants in CFTR and SPINK1 Are Associated with Chronic Pancreatitis in Patients without Cystic Fibrosis

PubMed Central

Schneider, Alexander; LaRusch, Jessica; Sun, Xiumei; Aloe, Amy; Lamb, Janette; Hawes, Robert; Cotton, Peter; Brand, Randall E.; Anderson, Michelle A.; Money, Mary E.; Banks, Peter A.; Lewis, Michele D.; Baillie, John; Sherman, Stuart; DiSario, James; Burton, Frank R.; Gardner, Timothy B.; Amann, Stephen T.; Gelrud, Andres; George, Ryan; Kassabian, Sirvart; Martinson, Jeremy; Slivka, Adam; Yadav, Dhiraj; Oruc, Nevin; Barmada, M. Michael; Frizzell, Raymond; Whitcomb, David C.

2010-01-01

Background & Aims Idiopathic chronic pancreatitis (ICP) is a complex inflammatory disorder associated with multiple genetic and environmental factors. In individuals without cystic fibrosis (CF), variants of CFTR that inhibit bicarbonate conductance but maintain chloride conductance might selectively impair secretion of pancreatic juice, leading to trypsin activation and pancreatitis. We investigated whether sequence variants in the gene encoding the pancreatic secretory trypsin inhibitor, SPINK1, further increase the risk of pancreatitis in these patients. Methods We screened patients with ICP (sporadic or familial) and controls for variants in SPINK1 associated with chronic pancreatitis (CP) risk (in exon 3) and in all 27 exons of CFTR. The final study group included 53 patients with sporadic ICP, 27 probands with familial ICP, and 150 unrelated controls, plus 503 controls for limited genotyping. CFTR wild-type (wt) and p.R75Q were cloned and expressed in HEK293 cells and relative conductances of HCO3− and Cl− were measured. Results SPINK1 variants were identified in 36% of subjects and 3% controls (odds ratio [OR]=16.5). One variant of CFTR that has not been associated with CF, p.R75Q, was found in 16% of subjects and 5.4% controls (OR=3.4). Co-inheritance of CFTR p.R75Q and SPINK1 variants occurred in 8.75% of patients and 0.15% controls (OR=62.5). Patch-clamp recordings of cells that expressed CFTR p.R75Q demonstrated normal chloride currents but significantly reduced bicarbonate currents (P=0.0001). Conclusions The CFTR variant p.R75Q causes a selective defect in bicarbonate conductance and increases risk for pancreatitis. Co-inheritance of CF-associated, and some not associated, CFTR variants with SPINK1 variants significantly increase risk of ICP. PMID:20977904

Diagnostic causal reasoning with verbal information.

PubMed

Meder, Björn; Mayrhofer, Ralf

2017-08-01

In diagnostic causal reasoning, the goal is to infer the probability of causes from one or multiple observed effects. Typically, studies investigating such tasks provide subjects with precise quantitative information regarding the strength of the relations between causes and effects or sample data from which the relevant quantities can be learned. By contrast, we sought to examine people's inferences when causal information is communicated through qualitative, rather vague verbal expressions (e.g., "X occasionally causes A"). We conducted three experiments using a sequential diagnostic inference task, where multiple pieces of evidence were obtained one after the other. Quantitative predictions of different probabilistic models were derived using the numerical equivalents of the verbal terms, taken from an unrelated study with different subjects. We present a novel Bayesian model that allows for incorporating the temporal weighting of information in sequential diagnostic reasoning, which can be used to model both primacy and recency effects. On the basis of 19,848 judgments from 292 subjects, we found a remarkably close correspondence between the diagnostic inferences made by subjects who received only verbal information and those of a matched control group to whom information was presented numerically. Whether information was conveyed through verbal terms or numerical estimates, diagnostic judgments closely resembled the posterior probabilities entailed by the causes' prior probabilities and the effects' likelihoods. We observed interindividual differences regarding the temporal weighting of evidence in sequential diagnostic reasoning. Our work provides pathways for investigating judgment and decision making with verbal information within a computational modeling framework. Copyright © 2017 Elsevier Inc. All rights reserved.

Porphyrinuria in childhood autistic disorder is not associated with urinary creatinine deficiency.

PubMed

Nataf, Robert; Skorupka, Corinne; Lam, Alain; Springbett, Anthea; Lathe, Richard

2008-08-01

Urinary metabolite measurements are often normalized to levels of the ubiquitous metabolite creatinine (CRT) to take account of variations in fluid export. Following CRT normalization, excesses of porphyrins and isoprostanes have been reported in the urines of children with neurodevelopmental disorders. It was suggested (Whiteley et al., 2006, Pediatr. Int. 2006; 48: 292-297) that urinary CRT levels may be depressed in children with autism spectrum disorders. This prompted re-evaluation of CRT levels in such children. First matinal urinary CRT levels were compared between subjects in different diagnostic categories including autistic disorder, pervasive developmental disorder not otherwise specified (PDD-NOS) and hyperactivity, before and after correction for age and gender. A larger reference group, consisting of subjects with unrelated disorders and Asperger disorder, with no reported porphyrin excess, was also compared to the group with autistic disorder, both for CRT and for porphyrin (coproporphyrin, COPRO) excess. No significant difference in CRT was observed between any of the categories analyzed, also when corrected for age and gender. In contrast, urinary COPRO levels were significantly higher in autistic disorder versus reference groups, either when expressed as absolute values (independent of CRT levels) or when normalized to CRT. These data do not support a systematic reduction in urinary CRT levels in subjects with autism spectrum disorders including autistic disorder and PDD-NOS. Urinary COPRO excess in autistic disorder was not associated with or consequent upon urinary CRT deficiency. Differences between affected and control subjects in age and sampling time, as reported by Whiteley et al., may underlie the apparent CRT reduction.

Effects of alcohol intoxication and autonomic arousal on delay discounting and risky sex in young adult heterosexual men.

PubMed

Wray, Tyler B; Simons, Jeffrey S; Maisto, Stephen A

2015-03-01

The relationship between alcohol use and risky sexual behavior is complex and depends on psychological and environmental factors. The alcohol myopia model predicts that, due to alcohol's impact on attention, the behavior of intoxicated individuals will become increasingly directed by salient cues. Autonomic arousal (AA) may have a similar effect on attention. Experiential delay discounting (DD) may be increased by both alcohol consumption and AA due to their common effects and may mediate the relationship between these conditions and risky sex. This study employed a 3 (alcohol, placebo, control)×2 (high, low arousal) experimental design to examine the effects of acute alcohol intoxication and AA on experiential delay discounting, subjective sexual arousal, and risky sex. Path models revealed complex results that only partially supported study hypotheses. Ratings of subjective sexual arousal did not differ across either beverage or arousal conditions. DD was also unrelated to any study variable. However, subjective sexual arousal was positively related to risky sexual intentions. Alcohol intoxication was also positively associated with increased unprotected sex intentions, consistent with past studies. These results affirm the role of subjective sexual arousal and alcohol intoxication in risky sexual decision-making, yielding effect sizes similar to comparable past studies. The lack of differences across autonomic arousal groups also suggests that effects of attentional myopia may be behavior-specific. Failure to replicate effects of alcohol intoxication on DD also suggests reservation regarding its involvement in alcohol-involved risky sex. Copyright © 2014 Elsevier Ltd. All rights reserved.

Thoughts in flight: automation use and pilots' task-related and task-unrelated thought.

PubMed

Casner, Stephen M; Schooler, Jonathan W

2014-05-01

The objective was to examine the relationship between cockpit automation use and task-related and task-unrelated thought among airline pilots. Studies find that cockpit automation can sometimes relieve pilots of tedious control tasks and afford them more time to think ahead. Paradoxically, automation has also been shown to lead to lesser awareness. These results prompt the question of what pilots think about while using automation. A total of 18 airline pilots flew a Boeing 747-400 simulator while we recorded which of two levels of automation they used. As they worked, pilots were verbally probed about what they were thinking. Pilots were asked to categorize their thoughts as pertaining to (a) a specific task at hand, (b) higher-level flight-related thoughts (e.g.,planning ahead), or (c) thoughts unrelated to the flight. Pilots' performance was also measured. Pilots reported a smaller percentage of task-at-hand thoughts (27% vs. 50%) and a greater percentage of higher-level flight-related thoughts (56% vs. 29%) when using the higher level of automation. However, when all was going according to plan, using either level of automation, pilots also reported a higher percentage of task-unrelated thoughts (21%) than they did when in the midst of an unsuccessful performance (7%). Task-unrelated thoughts peaked at 25% when pilots were not interacting with the automation. Although cockpit automation may provide pilots with more time to think, it may encourage pilots to reinvest only some of this mental free time in thinking flight-related thoughts. This research informs the design of human-automation systems that more meaningfully engage the human operator.

The Interplay between Value and Relatedness as Bases for Metacognitive Monitoring and Control: Evidence for Agenda-Based Monitoring

ERIC Educational Resources Information Center

Soderstrom, Nicholas C.; McCabe, David P.

2011-01-01

Two experiments are reported examining how value and relatedness interact to influence metacognitive monitoring and control processes. Participants studied unrelated and related word pairs, each accompanied by point values denoting how important the items were to remember. These values were presented either before or after each pair in a…

Systolic blood pressure, arterial rigidity, and risk of stroke. The Framingham study.

PubMed

Kannel, W B; Wolf, P A; McGee, D L; Dawber, T R; McNamara, P; Castelli, W P

1981-03-27

Based on prospective data from the Framingham study relating systolic pressure, diastolic pressure, age, and pulse-wave configuration to future stroke incidence, it would appear that isolated systolic hypertension predisposes to stroke independent of arterial rigidity. The prevalence of isolated systolic hypertension increased with age and with the degree of blunting of the dicrotic notch in the pulse wave. Subjects with isolated systolic hypertension experienced two to four times as many strokes as did normotensive persons. While diastolic pressure is related to stroke incidence, in the subject with systolic hypertension, the diastolic component adds little to risk assessment and in men, in this subgroup, appears unrelated to stroke incidence.

The Influence of trisomy 21 on facial form and variability.

PubMed

Starbuck, John M; Cole, Theodore M; Reeves, Roger H; Richtsmeier, Joan T

2017-11-01

Triplication of chromosome 21 (trisomy 21) results in Down syndrome (DS), the most common live-born human aneuploidy. Individuals with DS have a unique facial appearance that can include form changes and altered variability. Using 3D photogrammatic images, 3D coordinate locations of 20 anatomical landmarks, and Euclidean Distance Matrix Analysis methods, we quantitatively test the hypothesis that children with DS (n = 55) exhibit facial form and variance differences relative to two different age-matched (4-12 years) control samples of euploid individuals: biological siblings of individuals with DS (n = 55) and euploid individuals without a sibling with DS (n = 55). Approximately 36% of measurements differ significantly between DS and DS-sibling samples, whereas 46% differ significantly between DS and unrelated control samples. Nearly 14% of measurements differ significantly in variance between DS and DS sibling samples, while 18% of measurements differ significantly in variance between DS and unrelated euploid control samples. Of those measures that showed a significant difference in variance, all were relatively increased in the sample of DS individuals. These results indicate that faces of children with DS are quantitatively more similar to their siblings than to unrelated euploid individuals and exhibit consistent, but slightly increased variation with most individuals falling within the range of normal variation established by euploid samples. These observations provide indirect evidence of the strength of the genetic underpinnings of the resemblance between relatives and the resistance of craniofacial development to genetic perturbations caused by trisomy 21, while underscoring the complexity of the genotype-phenotype map. © 2017 Wiley Periodicals, Inc.

Higher plasma orexin a levels in children with Prader-Willi syndrome compared with healthy unrelated sibling controls.

PubMed

Manzardo, Ann M; Johnson, Lisa; Miller, Jennifer L; Driscoll, Daniel J; Butler, Merlin G

2016-09-01

Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder associated with maladaptive social behavior, hyperphagia and morbid obesity. Orexin A is a hypothalamic neuropeptide important as a homeostatic regulator of feeding behavior and in energy metabolism through actions in the lateral hypothalamus. Dysregulation of orexin signaling may contribute to behavioral problems and hyperphagia seen in PWS and we sought to assess orexin A levels in PWS relative to controls children. Morning fasting plasma orexin A levels were analyzed in 23 children (aged 5-11 years) with genetically confirmed PWS and 18 age and gender matched healthy unrelated siblings without PWS. Multiplex immune assays utilized the Milliplex Human Neuropeptide Magnetic panel and the Luminex platform. Natural log-transformed orexin A data were analyzed using general linear model adjusting for diagnosis, gender, age, total body fat, and body mass index (BMI). Plasma orexin A levels were significantly higher (P < 0.006) in children with PWS (average ±SD = 1,028 pg/ml ± 358) compared with unrelated siblings (average ±SD = 609 pg/ml ± 351; P < 0.001). Orexin A levels correlated with age in females and were significantly elevated in PWS even after these effects were controlled. These findings support the hypothesis that dysregulation of orexin signaling may contribute to behavioral problems and hyperphagia in PWS. Further studies are warranted to better understand the complex relationship between orexin A levels and the problematic behaviors consistently found in individuals with PWS. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Higher plasma orexin A levels in children with Prader-Willi syndrome compared with healthy unrelated sibling controls.

PubMed

Manzardo, Ann M; Johnson, Lisa; Miller, Jennifer L; Driscoll, Daniel J; Butler, Merlin G

2016-08-01

Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder associated with maladaptive social behavior, hyperphagia, and morbid obesity. Orexin A is a hypothalamic neuropeptide important as a homeostatic regulator of feeding behavior and in energy metabolism through actions in the lateral hypothalamus. Dysregulation of orexin signaling may contribute to behavioral problems and hyperphagia seen in PWS and we sought to assess orexin A levels in PWS relative to controls children. Morning fasting plasma orexin A levels were analyzed in 23 children (aged 5-11 years) with genetically confirmed PWS and 18 age and gender matched healthy unrelated siblings without PWS. Multiplex immune assays utilized the Milliplex Human Neuropeptide Magnetic panel and the Luminex platform. Natural log-transformed orexin A data were analyzed using general linear model adjusting for diagnosis, gender, age, total body fat and body mass index (BMI). Plasma orexin A levels were significantly higher (P < 0.006) in children with PWS (average ±SD = 1028 pg/ml ± 358) compared with unrelated siblings (average ±SD = 609 pg/ml ± 351; P < 0.001). Orexin A levels correlated with age in females and were significantly elevated in PWS even after these effects were controlled. These findings support the hypothesis that dysregulation of orexin signaling may contribute to behavioral problems and hyperphagia in PWS. Further studies are warranted to better understand the complex relationship between orexin A levels and the problematic behaviors consistently found in individuals with PWS. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Reproductive concessions between related and unrelated members promote eusociality in bees.

PubMed

Andrade, Aline C R; Miranda, Elder A; Del Lama, Marco A; Nascimento, Fábio S

2016-05-23

Animal societies exhibit remarkable variation in their breeding strategies. Individuals can maximize their fitness by either reproducing or by helping relatives. Social hymenopterans have been key taxa for the study of Hamilton's inclusive fitness theory because the haplodiploid sex-determination system results in asymmetric relatedness among breeders producing conflict over the partitioning of reproduction. In small cooperative groups of insects, totipotent individuals may maximize their inclusive fitness by controlling reproduction despotically rather than helping their relatives. Here, we demonstrate that the dominant females of the primitively eusocial bee Euglossa melanotricha (Apidae: Euglossini) control reproduction, but concede part of the reproductive output with their related and unrelated subordinates. As expected, a dominant female capitalizes on the direct reproduction of related subordinates, according to her interests. We found that reproductive skew was positively correlated with relatedness. The concessions were highly reduced in mother-daughter and sibling nests (relatedness r ± s.d. = 0.54 ± 0.02 and 0.79 ± 0.02, respectively) but much more egalitarian in unrelated associations (r = -0.10 ± 0.01). We concluded that reproductive skew in these primitively eusocial bees is strongly related to the genetic structure of associations, and also that females are able to assess pairwise relatedness, either directly or indirectly, and use this information to mediate social contracts.

Neuropsychological sequelae of work-stress-related exhaustion.

PubMed

Österberg, Kai; Skogsliden, Sofia; Karlson, Björn

2014-01-01

The aim was to assess long-term cognitive performance after substantial recovery from work-stress-related exhaustion, in relation to subjective cognitive complaints and return to active work. In total, 54 patients previously diagnosed with work-stress-related exhaustion participated in a neuropsychological examination ∼2 years after initial sick leave. Most participants were substantially recovered at follow-up, with only 13% still meeting the criteria for exhaustion disorder suggested by the Swedish National Board of Health and Welfare. When participants' scores on 14 neuropsychological tests were compared to a matched group of 50 controls, the former patient group showed lower performance mainly on attention tests of the reaction time type, but also slightly lower scores on visuo-spatial constructional ability. However, the former patient group performed better than controls on two memory tests and, in part, on a test of simultaneous capacity. Self-ratings of everyday cognitive problems remained significantly higher in the former patient group than among controls, but the extent of self-rated cognitive problems was generally unrelated to performance on the neuropsychological tests. No relationship between performance on these tests and the extent of work resumption was observed. In summary, persons with previous work-stress-related exhaustion showed persistent signs of a minor attention deficit, despite considerable general recovery and return to work.

Structural brain network analysis in families multiply affected with bipolar I disorder.

PubMed

Forde, Natalie J; O'Donoghue, Stefani; Scanlon, Cathy; Emsell, Louise; Chaddock, Chris; Leemans, Alexander; Jeurissen, Ben; Barker, Gareth J; Cannon, Dara M; Murray, Robin M; McDonald, Colm

2015-10-30

Disrupted structural connectivity is associated with psychiatric illnesses including bipolar disorder (BP). Here we use structural brain network analysis to investigate connectivity abnormalities in multiply affected BP type I families, to assess the utility of dysconnectivity as a biomarker and its endophenotypic potential. Magnetic resonance diffusion images for 19 BP type I patients in remission, 21 of their first degree unaffected relatives, and 18 unrelated healthy controls underwent tractography. With the automated anatomical labelling atlas being used to define nodes, a connectivity matrix was generated for each subject. Network metrics were extracted with the Brain Connectivity Toolbox and then analysed for group differences, accounting for potential confounding effects of age, gender and familial association. Whole brain analysis revealed no differences between groups. Analysis of specific mainly frontal regions, previously implicated as potentially endophenotypic by functional magnetic resonance imaging analysis of the same cohort, revealed a significant effect of group in the right medial superior frontal gyrus and left middle frontal gyrus driven by reduced organisation in patients compared with controls. The organisation of whole brain networks of those affected with BP I does not differ from their unaffected relatives or healthy controls. In discreet frontal regions, however, anatomical connectivity is disrupted in patients but not in their unaffected relatives. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Older but wilier: In-group accountability and the development of subjective group dynamics.

PubMed

Abrams, Dominic; Rutland, Adam; Cameron, Lindsey; Ferrell, Jennifer

2007-01-01

To test social and cognitive variables that may affect the development of subjective group dynamics, the authors had 224 children between the ages of 5 and 12 years evaluate an in-group and an out-group and normative and deviant in-group members under conditions of high or low accountability to in-group peers. In-group bias and relative favorability to normative versus deviant in-group members (differential evaluation) increased when children were accountable to peers and as a function of perceptions of peer group acceptance of these members (differential inclusion). These effects were significantly larger among older children. Multiple classification ability was unrelated to judgments of group members. This study shows that the development of subjective group dynamics involves an increase in sensitivity to the normative aspects of the intergroup context. Copyright 2006 APA, all rights reserved.

The awakening of the attention: Evidence for a link between the monitoring of mind wandering and prospective goals.

PubMed

Seli, Paul; Smilek, Daniel; Ralph, Brandon C W; Schacter, Daniel L

2018-03-01

Across 2 independent samples, we examined the relation between individual differences in rates of self-caught mind wandering and individual differences in temporal monitoring of an unrelated response goal. Rates of self-caught mind wandering were assessed during a commonly used sustained-attention task, and temporal goal monitoring was indexed during a well-established prospective-memory task. The results from both samples showed a positive relation between rates of self-caught mind wandering during the sustained-attention task and rates of checking a clock to monitor the amount of time remaining before a response was required in the prospective-memory task. This relation held even when controlling for overall propensity to mind-wander (indexed by intermittent thought probes) and levels of motivation (indexed by subjective reports). These results suggest the possibility that there is a common monitoring system that monitors the contents of consciousness and the progress of ongoing goals and tasks. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Immunosenescence Induced by Plasma from Individuals with Obesity Caused Cell Signaling Dysfunction and Inflammation.

PubMed

Parisi, Mariana Migliorini; Grun, Lucas Kich; Lavandoski, Patrícia; Alves, Letícia Biscaino; Bristot, Ivi Juliana; Mattiello, Rita; Mottin, Cláudio Corá; Klamt, Fábio; Jones, Marcus Herbert; Padoin, Alexandre Vontobel; Guma, Fátima Costa Rodrigues; Barbé-Tuana, Florencia María

2017-09-01

To evaluate the consequences of plasma from individuals with obesity on parameters associated with immunosenescence in unrelated healthy peripheral blood mononuclear cells (PBMC). Freshly isolated PBMC were incubated in media supplemented with 10% of plasma from individuals with obesity or control subjects for the first 4 hours of 24 to 120 hours of culture. Plasma from individuals with obesity modulated the phenotype of healthy PBMC, leading to a higher rate of apoptosis, lower amounts of phospho-γH2AX and -p53, and mitochondrial dysfunction. After 120 hours, there was a higher secretion of inflammatory cytokines IL-1β and IL-8. CD8 + T lymphocytes presented decreased expression of CD28, which is associated with the immunosenescent phenotype. CD14 + macrophages showed increased expression of CD80 and CD206, suggesting a modulation in the activation of macrophages. These results demonstrate that chronic systemic inflammation observed in obesity induces dysfunctional features in PBMC that are consistent with premature immunosenescence. © 2017 The Obesity Society.

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome

PubMed Central

Rakhimova, Saule E.; Nigmatullina, Nazym B.; Momynaliev, Kuvat T.; Ramanculov, Yerlan M.

2015-01-01

Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80% of Alport syndrome cases are caused by X-linked mutations in the COL4A5 gene encoding type IV collagen. The objective of this study was to define the SNP profiles for COL4A5 in patients with hereditary nephritis and hematuria. For this, we examined four subjects from one Kazakh family clinically affected with X-linked Alport syndrome due to COL4A5 gene mutations. All 51 exons of the COL4A5 gene were screened by linkage analysis and direct DNA sequencing, resulting in the identification of a novel mutation (G641E) in exon 25. The mutation was found only in two affected family individuals but was not present in healthy family members or 200 unrelated healthy controls. This result demonstrates that this novel mutation is pathogenic and has meaningful implications for the diagnosis of patients with Alport syndrome. PMID:26168235

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.

PubMed

Baikara, Barshagul T; Zholdybayeva, Elena V; Rakhimova, Saule E; Nigmatullina, Nazym B; Momynaliev, Kuvat T; Ramanculov, Yerlan M

2015-01-01

Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80% of Alport syndrome cases are caused by X-linked mutations in the COL4A5 gene encoding type IV collagen. The objective of this study was to define the SNP profiles for COL4A5 in patients with hereditary nephritis and hematuria. For this, we examined four subjects from one Kazakh family clinically affected with X-linked Alport syndrome due to COL4A5 gene mutations. All 51 exons of the COL4A5 gene were screened by linkage analysis and direct DNA sequencing, resulting in the identification of a novel mutation (G641E) in exon 25. The mutation was found only in two affected family individuals but was not present in healthy family members or 200 unrelated healthy controls. This result demonstrates that this novel mutation is pathogenic and has meaningful implications for the diagnosis of patients with Alport syndrome.

The Possible Role of Hypnosis in Homograft Retention

PubMed Central

Fogel, Sydney; Knight, Charles R.

1965-01-01

Hypnosis was used to alter body image in an attempt to enable a woman to retain a skin homograft from an unrelated male donor. The man also acted as a nonhypnotized control by receiving a homograft from the hypnotized woman. Oneinch square full-thickness skin homografts were exchanged between the upper arms of the two volunteers. The homograft on the arm of the woman is still viable after eight months; the homograft on the man was rejected within two weeks. A second experiment in which the same subject was told under hypnosis to reject the homograft failed to produce rejection. Definite conclusions are not yet justified. Among factors to be considered in the present case are an unusual compatibility, schizophrenia as an inhibitor of the rejection mechanism, hypnotically induced irreversible acceptance, or other unknown mechanisms. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8Fig. 9Fig. 10Fig. 11Fig. 12Fig. 13Fig. 14Fig. 15 PMID:14339293

An automated method to analyze language use in patients with schizophrenia and their first-degree relatives

PubMed Central

Elvevåg, Brita; Foltz, Peter W.; Rosenstein, Mark; DeLisi, Lynn E.

2009-01-01

Communication disturbances are prevalent in schizophrenia, and since it is a heritable illness these are likely present - albeit in a muted form - in the relatives of patients. Given the time-consuming, and often subjective nature of discourse analysis, these deviances are frequently not assayed in large scale studies. Recent work in computational linguistics and statistical-based semantic analysis has shown the potential and power of automated analysis of communication. We present an automated and objective approach to modeling discourse that detects very subtle deviations between probands, their first-degree relatives and unrelated healthy controls. Although these findings should be regarded as preliminary due to the limitations of the data at our disposal, we present a brief analysis of the models that best differentiate these groups in order to illustrate the utility of the method for future explorations of how language components are differentially affected by familial and illness related issues. PMID:20383310

Ambitions fulfilled? The effects of intrinsic and extrinsic goal attainment on older adults' ego-integrity and death attitudes.

PubMed

Van Hiel, Alain; Vansteenkiste, Maarten

2009-01-01

The present research examined the effects of intrinsic and extrinsic goal attainment on older adults' ego-integrity, psychological well-being, and death attitudes. Hypotheses were derived from Self-Determination Theory (SDT; Deci & Ryan, 2000; Vansteenkiste, Ryan, & Deci, in press). Study 1 (N = 202, Mean age = 68.2 years) indicated that, after controlling for extrinsic goal attainment, intrinsic goal attainment contributed positively to subjective well-being and ego-integrity and negatively to despair, whereas extrinsic goal attainment was unrelated to psychological health and contributed positively to despair. Study 2 (N = 213, Mean age = 75.2 years) replicated and extended these results, showing that intrinsic goal attainment contributed to the acceptance of one's own death, lower ill-being, and less death anxiety, whereas extrinsic goal attainment was negatively associated with death acceptance. It is argued that the attainment of intrinsic goals is related to better psychological health, because intrinsic goals are more conducive to the satisfaction of basic psychological needs.

Is semantic priming (ir)rational? Insights from the speeded word fragment completion task.

PubMed

Heyman, Tom; Hutchison, Keith A; Storms, Gert

2016-10-01

Semantic priming, the phenomenon that a target is recognized faster if it is preceded by a semantically related prime, is a well-established effect. However, the mechanisms producing semantic priming are subject of debate. Several theories assume that the underlying processes are controllable and tuned to prime utility. In contrast, purely automatic processes, like automatic spreading activation, should be independent of the prime's usefulness. The present study sought to disentangle both accounts by creating a situation where prime processing is actually detrimental. Specifically, participants were asked to quickly complete word fragments with either the letter a or e (e.g., sh_ve to be completed as shave). Critical fragments were preceded by a prime that was either related (e.g., push) or unrelated (write) to a prohibited completion of the target (e.g., shove). In 2 experiments, we found a significant inhibitory priming effect, which is inconsistent with purely "rational" explanations of semantic priming. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

Paranormal belief and errors of probabilistic reasoning: The role of constituent conditional relatedness in believers' susceptibility to the conjunction fallacy.

PubMed

Rogers, Paul; Fisk, John E; Lowrie, Emma

2017-11-01

The present study examines the extent to which stronger belief in either extrasensory perception, psychokinesis or life-after-death is associated with a proneness to making conjunction errors (CEs). One hundred and sixty members of the UK public read eight hypothetical scenarios and for each estimated the likelihood that two constituent events alone plus their conjunction would occur. The impact of paranormal belief plus constituents' conditional relatedness type, estimates of the subjectively less likely and more likely constituents plus relevant interaction terms tested via three Generalized Linear Mixed Models. General qualification levels were controlled for. As expected, stronger PK beliefs and depiction of a positively conditionally related (verses conditionally unrelated) constituent pairs predicted higher CE generation. ESP and LAD beliefs had no impact with, surprisingly, higher estimates of the less likely constituent predicting fewer - not more - CEs. Theoretical implications, methodological issues and ideas for future research are discussed. Copyright © 2017 Elsevier Inc. All rights reserved.

The relationships between air exposure, negative pressure, and hemolysis.

PubMed

Pohlmann, Joshua R; Toomasian, John M; Hampton, Claire E; Cook, Keith E; Annich, Gail M; Bartlett, Robert H

2009-01-01

The purpose of this study was to describe the hemolytic effects of both negative pressure and an air-blood interface independently and in combination in an in vitro static blood model. Samples of fresh ovine or human blood (5 ml) were subjected to a bubbling air interface (0-100 ml/min) or negative pressure (0-600 mm Hg) separately, or in combination, for controlled periods of time and analyzed for hemolysis. Neither negative pressure nor an air interface alone increased hemolysis. However, when air and negative pressure were combined, hemolysis increased as a function of negative pressure, the air interface, and time. Moreover, when blood samples were exposed to air before initiating the test, hemolysis was four to five times greater than samples not preexposed to air. When these experiments were repeated using freshly drawn human blood, the same phenomena were observed, but the hemolysis was significantly higher than that observed in sheep blood. In this model, hemolysis is caused by combined air and negative pressure and is unrelated to either factor alone.

Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.

PubMed

Jiang, Lu; Chen, Hongsheng; Jiang, Wen; Hu, Zhengmao; Mei, Lingyun; Xue, Jingjie; He, Chufeng; Liu, Yalan; Xia, Kun; Feng, Yong

2011-05-20

We analyzed the clinical features and family-related gene mutations for the first two Chinese cases of type IV Waardenburg syndrome (WS4). Two families were analyzed in this study. The analysis included a medical history, clinical analysis, a hearing test and a physical examination. In addition, the EDNRB, EDN3 and SOX10 genes were sequenced in order to identify the pathogenic mutation responsible for the WS4 observed in these patients. The two WS4 cases presented with high phenotypic variability. Two novel heterozygous mutations (c.254G>A and c.698-2A>T) in the SOX10 gene were detected. The mutations identified in the patients were not found in unaffected family members or in 200 unrelated control subjects. This is the first report of WS4 in Chinese patients. In addition, two novel mutations in SOX10 gene have been identified. Crown Copyright © 2011. Published by Elsevier Inc. All rights reserved.

Predicting contraceptive vigilance in adolescent females: a projective method for assessing ego development.

PubMed

Speier, P L; Mélèse-D'Hospital, I A; Tschann, J M; Moore, P J; Adler, N E

1997-01-01

To test the hypothesis that ego development would predict contraceptive use. Problems in ego development were defined in terms of three factors: (1) realism, (2) complexity, and (3) discontinuity. Forty-one respondents aged 14-17 years were selected from a group of 233 adolescents who were administered a projective pregnancy scenario and participated in a 12-month follow-up. Twenty of these adolescents were randomly selected from the group determined to be effective contraceptive users, while 21 were randomly selected from the group of poor contraceptors. Chi-square test revealed a significant association (p < .0005) between the composite ego maturity (EM) measure and contraceptive outcome (chi 2 = 13.82, with df-1). Low scores on the ego maturity measure predicted poor contraceptive use. EM was unrelated to age but was associated with race (chi 2 = 7.535, .025 < p < .05). However, EM predicted contraceptive use when controlling for the effects of race. A simple, time-efficient projective pregnancy scenario is an effective way of determining adolescent females at risk for poor contraceptive effectiveness and, therefore, untimely pregnancy. These stories are analyzed using factors related to the ego development of the adolescent. Subjects who scored lower on this measure have poor contraceptive effectiveness while subjects with higher levels demonstrated effective contraception use, at 1-year follow-up.

40 CFR 131.40 - Puerto Rico

Code of Federal Regulations, 2012 CFR

2012-07-01

... unrelated to water quality, preclude attainment of aquatic life protection uses; or (vi) Controls more... Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) WATER PROGRAMS WATER QUALITY STANDARDS Federally Promulgated Water Quality Standards § 131.40 Puerto Rico (a) Use designations for marine waters...

40 CFR 131.40 - Puerto Rico

Code of Federal Regulations, 2013 CFR

2013-07-01

... unrelated to water quality, preclude attainment of aquatic life protection uses; or (vi) Controls more... Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) WATER PROGRAMS WATER QUALITY STANDARDS Federally Promulgated Water Quality Standards § 131.40 Puerto Rico (a) Use designations for marine waters...

40 CFR 131.40 - Puerto Rico

Code of Federal Regulations, 2010 CFR

2010-07-01

... unrelated to water quality, preclude attainment of aquatic life protection uses; or (vi) Controls more... Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) WATER PROGRAMS WATER QUALITY STANDARDS Federally Promulgated Water Quality Standards § 131.40 Puerto Rico (a) Use designations for marine waters...

40 CFR 131.40 - Puerto Rico

Code of Federal Regulations, 2014 CFR

2014-07-01

... unrelated to water quality, preclude attainment of aquatic life protection uses; or (vi) Controls more... Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) WATER PROGRAMS WATER QUALITY STANDARDS Federally Promulgated Water Quality Standards § 131.40 Puerto Rico (a) Use designations for marine waters...

40 CFR 131.40 - Puerto Rico

Code of Federal Regulations, 2011 CFR

2011-07-01

... unrelated to water quality, preclude attainment of aquatic life protection uses; or (vi) Controls more... Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) WATER PROGRAMS WATER QUALITY STANDARDS Federally Promulgated Water Quality Standards § 131.40 Puerto Rico (a) Use designations for marine waters...

Relations Between Embedded Figures Test Performance and Dimensions of the I-E Scale

ERIC Educational Resources Information Center

Strahan, Robert; Huth, Helga

1975-01-01

Relations between an embedded figures measure of field independence and various dimensions of Rotter's Internal-External Locus of Control Scale were investigated. The general absence of significant correlations suggests that these variables are essentially unrelated. (Author)

Evidence for disturbed insulin and growth hormone signaling as potential risk factors in the development of schizophrenia.

PubMed

van Beveren, N J M; Schwarz, E; Noll, R; Guest, P C; Meijer, C; de Haan, L; Bahn, S

2014-08-26

Molecular abnormalities in metabolic, hormonal and immune pathways are present in peripheral body fluids of a significant subgroup of schizophrenia patients. The authors have tested whether such disturbances also occur in psychiatrically ill and unaffected siblings of schizophrenia patients with the aim of identifying potential contributing factors to disease vulnerability. The subjects were recruited as part of the Genetic Risk and OUtcome of Psychosis (GROUP) study. The authors used multiplexed immunoassays to measure the levels of 184 molecules in serum from 112 schizophrenia patients, 133 siblings and 87 unrelated controls. Consistent with the findings of previous studies, serum from schizophrenia patients contained higher levels of insulin, C-peptide and proinsulin, decreased levels of growth hormone and altered concentrations of molecules involved in inflammation. In addition, significant differences were found in the levels of some of these proteins in siblings diagnosed with mood disorders (n=16) and in unaffected siblings (n=117). Most significantly, the insulin/growth hormone ratio was higher across all groups compared with the controls. Taken together, these findings suggest the presence of a molecular endophenotype involving disruption of insulin and growth factor signaling pathways as an increased risk factor for schizophrenia.

Role of upper cervical spine in temporomandibular disorders.

PubMed

Raya, Cristian Rodolfo; Plaza-Manzano, Gustavo; Pecos-Martín, Daniel; Ferragut-Garcías, Alejandro; Martín-Casas, Patricia; Gallego-Izquierdo, Tomás; Romero-Franco, Natalia

2017-11-06

Temporomandibular disorders (TMDs) are prevalent multifactorial pathologies in which the actual role of the cervical region position is controversial. To analyze the relationship between the position of the upper cervical rachis and the symptoms of TMD. Sixty women were recruited to this study. All of them completed a questionnaire and were subjected to a temporomadibular exploration to create two different groups: a TMD Group (n= 30) - women who suffered TMD symptoms according to the evaluation; and a control group (n= 30) - women who were free from TMD symptoms. Two X-ray examinations were performed in all the women: a lateral one and a frontal one with mouth open to assess the C1-C0 distance and the craniocervical angle. ANOVA showed that the TMD and control women had similar C1-C0 distances and craniocervical angles (p> 0.05). Pearson correlation did not indicate any relationship between the craniocervical position and the symptomatology of TMD (r=- 0.070). TMD symptomatology is unrelated to alterations in craniocervical position (C0-C1 distance and craniocervical angle). Women with and without TMD showed a similar prevalence of alteration in the craniocervical position.

Ethnic differentiation of copy number variation on chromosome 16p12.3 for association with obesity phenotypes in European and Chinese populations.

PubMed

Yang, T-L; Guo, Y; Li, S M; Li, S K; Tian, Q; Liu, Y-J; Deng, H-W

2013-02-01

Genomic copy number variations (CNVs) have been strongly implicated as important genetic factors for obesity. A recent genome-wide association study identified a novel variant, rs12444979, which is in high linkage disequilibrium with CNV 16p12.3, for association with obesity in Europeans. The aim of this study was to directly examine the relationship between the CNV 16p12.3 and obesity phenotypes, including body mass index (BMI) and body fat mass. Subjects were a multi-ethnic sample, including 2286 unrelated subjects from a European population and 1627 unrelated Han subjects from a Chinese population. Body fat mass was measured using dual energy X-ray absorptiometry. Using Affymetrix Genome-Wide Human SNP Array 6.0, we directly detected CNV 16p12.3, with the deletion frequency of 27.26 and 0.8% in the European and Chinese populations, respectively. We confirmed the significant association between this CNV and obesity (BMI: P=1.38 × 10(-2); body fat mass: P=2.13 × 10(-3)) in the European population. Less copy numbers were associated with lower BMI and body fat mass, and the effect size was estimated to be 0.62 (BMI) and 1.41 (body fat mass), respectively. However, for the Chinese population, we did not observe significant association signal, and the frequencies of this deletion CNV are quite different between the European and Chinese populations (P<0.001). Our findings first suggest that CNV 16p12.3 might be ethnic specific and cause ethnic phenotypic diversity, which may provide some new clues into the understanding of the genetic architecture of obesity.

A case-control study of diet and gastric cancer in northern Italy.

PubMed

La Vecchia, C; Negri, E; Decarli, A; D'Avanzo, B; Franceschi, S

1987-10-15

Dietary factors in the aetiology of stomach cancer were investigated using data from a case-control study conducted in Northern Italy on 206 histologically confirmed carcinomas and 474 control subjects in hospital for acute, non-digestive conditions, unrelated to any of the potential risk factors for gastric cancer. Dietary histories concerned the frequency of consumption per week of 29 selected food items (including the major sources of starches, proteins, fats, fibres, vitamins A and C, nitrates and nitrites in the Italian diet) and subjective scores for condiments and salt intake. Pasta and rice (the major sources of starch), polenta (a porridge made of maize) and ham were positively related with gastric cancer risk, whereas green vegetables and fresh fruit as a whole (and specifically citrus fruit) and selected fibre-rich aliments (such as whole-grain bread or pasta) showed protective effects on gastric cancer risk. Allowance for major identified potential distorting factors (chiefly indicators of socio-economic status) reduced the positive association with pasta or rice consumption, but did not appreciably modify any of the other risk estimates. When a single logistic model was fitted including all food items significant in univariate analysis, the 3 items remaining statistically significant were green vegetables (relative risk, RR = 0.27 for upper vs. lower tertile), polenta (RR = 2.32) and ham (RR = 1.60). Indices of beta-carotene and ascorbate intake were negatively and strongly related with gastric cancer risk, but the association with these micronutrients was no longer evident after simultaneous allowance for various food items. An approximately 7-fold difference in risk was found between extreme quintiles of a scale measuring major positive and negative associations.

Association of the Pro12Ala polymorphism in peroxisome proliferator-activated receptor gamma2 with decreased basic metabolic rate in women with polycystic ovary syndrome.

PubMed

Koika, Vasiliki; Marioli, Dimitra J; Saltamavros, Alexandros D; Vervita, Vasiliki; Koufogiannis, Kleanthis D; Adonakis, George; Decavalas, George; Georgopoulos, Neoklis A

2009-08-01

The peroxisome proliferator-activated receptor (PPAR)gamma is a transcription factor involved in glucose homeostasis and energy metabolism. A missense mutation at codon 12 in the PPARgamma2 has been associated with increased body mass index (BMI) and attenuated insulin resistance (IR) in polycystic ovary syndrome (PCOS). We have recently shown a decreased basic metabolic rate (BMR) in PCOS. The aim of the present study is to determine the prevalence of the Pro12Ala polymorphism of the PPARgamma2 gene and its associations with indices of IR and BMR in lean and slightly overweight PCOS women. Case-control association study involving 156 PCOS women with biochemical hyperandrogenism, chronic anovulation and polycystic ovarian morphology in ultrasound and 56 unrelated healthy controls. Hormonal determinations were performed by electrochemiluminescence quantitation or RIA. BMR was measured by indirect calorimetry. All subjects were genotyped by a PCR-restriction fragment length polymorphism assay. Genotype frequencies of the Pro12Ala polymorphism in PPARgamma2 did not differ among PCOS women and control subjects. The presence of Pro12Ala polymorphism of PPARgamma2 was associated with lower BMR (P=0.04). This finding was valid in our subgroup of lean PCOS (BMI<25 kg/m(2)), in which the Ala variant was also associated with higher total testosterone values. The Pro12Ala polymorphism in the PPARgamma2 gene is associated with decreased BMR in women with PCOS and biochemical hyperandrogenemia. These young women are therefore at risk to increase their body weight and should restrict their energy intake by diet and enhance their energy expenditure by exercise.

Parkin disease: a clinicopathologic entity?

PubMed

Doherty, Karen M; Silveira-Moriyama, Laura; Parkkinen, Laura; Healy, Daniel G; Farrell, Michael; Mencacci, Niccolo E; Ahmed, Zeshan; Brett, Francesca M; Hardy, John; Quinn, Niall; Counihan, Timothy J; Lynch, Timothy; Fox, Zoe V; Revesz, Tamas; Lees, Andrew J; Holton, Janice L

2013-05-01

Mutations in the gene encoding parkin (PARK2) are the most common cause of autosomal recessive juvenile-onset and young-onset parkinsonism. The few available detailed neuropathologic reports suggest that homozygous and compound heterozygous parkin mutations are characterized by severe substantia nigra pars compacta neuronal loss. To investigate whether parkin-linked parkinsonism is a different clinicopathologic entity to Parkinson disease (PD). We describe the clinical, genetic, and neuropathologic findings of 5 unrelated cases of parkin disease and compare them with 5 pathologically confirmed PD cases and 4 control subjects. The PD control cases and normal control subjects were matched first for age at death then disease duration (PD only) for comparison. Presenting signs in the parkin disease cases were hand or leg tremor often combined with dystonia. Mean age at onset was 34 years; all cases were compound heterozygous for mutations of parkin. Freezing of gait, postural deformity, and motor fluctuations were common late features. No patients had any evidence of cognitive impairment or dementia. Neuronal counts in the substantia nigra pars compacta revealed that neuronal loss in the parkin cases was as severe as that seen in PD, but relative preservation of the dorsal tier was seen in comparison with PD (P = .04). Mild neuronal loss was identified in the locus coeruleus and dorsal motor nucleus of the vagus, but not in the nucleus basalis of Meynert, raphe nucleus, or other brain regions. Sparse Lewy bodies were identified in 2 cases (brainstem and cortex). These findings support the notion that parkin disease is characterized by a more restricted morphologic abnormality than is found in PD, with predominantly ventral nigral degeneration and absent or rare Lewy bodies.

Serotonin transporter gene polymorphism and its association with bipolar disorder across different ethnic groups in Malaysia.

PubMed

Mohamed Saini, Suriati; Nik Jaafar, Nik Ruzyanei; Sidi, Hatta; Midin, Marhani; Mohd Radzi, Azizah; Abdul Rahman, Abdul Hamid

2014-01-01

The risk variants have been shown to vary substantially across populations and a genetic study in a heterogeneous population might shed a new light in the disease mechanism. This preliminary study aims to determine the frequency of the serotonin transporter gene polymorphism (5-HTTLPR) in the three main ethnic groups in Malaysia and its association with bipolar disorder. This is a candidate gene association study of randomly selected forty five unrelated bipolar disorder probands and sixty six controls. Diagnosis was evaluated using the Mini International Neuropsychiatric Interview (M.I.N.I). The control group consisted of healthy volunteers without personal psychiatric history and family history of mood disorder. Patients' whole blood was collected for genotyping. This study revealed that the frequency of the short variant of 5-HTTLPR in healthy control group was highest in Indians (42.9%) followed by Malays (23.5%) and was absent in Chinese. The association between the homozygous ss genotype of the 5-HTTLPR polymorphism with bipolar disorder was not found in the pooled subjects (χ(2)=1.52, d.f.=1, p=0.218, OR=4.67, 95% C.I.=0.69-7.58) and after stratification into Malays (p=0.315, OR=2.03, 95% CI=0.50-8.17), Indians (p=0.310; OR=0.44, 95% CI=0.21-0.92) and Chinese. The differences in the frequency of the short allele of 5-HTTLPR across the three main ethnic groups in Malaysia were noteworthy. The present study showed no significant association between the homozygous short variant of the 5-HTTLPR and bipolar disorder in the pooled subject and after stratification into the three main ethnic groups in Malaysia. Copyright © 2014 Elsevier Inc. All rights reserved.

Low childhood subjective social status and telomere length in adulthood: The role of attachment orientations.

PubMed

Murdock, Kyle W; Seiler, Annina; Chirinos, Diana A; Garcini, Luz M; Acebo, Sally L; Cohen, Sheldon; Fagundes, Christopher P

2018-04-01

Low subjective social status (SSS) in childhood places one at greater risk of a number of health problems in adulthood. Theoretical and empirical evidence indicates that exposure to supportive parenting may buffer the negative effects of low childhood SSS on adult health. Given the importance of supportive caregivers and close others for the development of attachment orientations throughout the lifespan, attachment theory may be important for understanding why some individuals are resilient to the negative effects of low childhood SSS on adult health while others are not. We examined if attachment anxiety and attachment avoidance altered the association between childhood subjective social status (SSS) and length of telomeres in white blood cells in adulthood. Shorter telomere length is associated with increased risk of age-related diseases including cancer, type 2 diabetes, and cardiovascular disease. Participants (N = 128) completed self-report measures of childhood SSS and attachment orientations, as well as a blood draw. We found that among those with low childhood SSS, low attachment anxiety was associated with longer telomere length in white blood cells in comparison to high attachment anxiety controlling for participant age, sex, race, body mass index, and adult SSS. Among those with high childhood SSS, low attachment anxiety was associated with a slight decrease in telomere length. Attachment avoidance was unrelated to length of telomeres. Such findings provide further evidence for the role that close relationships may have on buffering SSS related health disparities. © 2018 Wiley Periodicals, Inc.

Evidence for vocal learning in juvenile male killer whales, Orcinus orca, from an adventitious cross-socializing experiment.

PubMed

Crance, Jessica L; Bowles, Ann E; Garver, Alan

2014-04-15

Killer whales (Orcinus orca) are thought to learn their vocal dialect. Dispersal in the species is rare, but effects of shifts in social association on the dialect can be studied under controlled conditions. Individual call repertoires and social association were measured in three adult female killer whales and three males (two juveniles and an adult) during two periods, 2001-2003 and 2005-2006. Three distinct dialect repertoires were represented among the subjects. An adventitious experiment in social change resulted from the birth of a calf and the transfer of two non-focal subjects in 2004. Across the two periods, 1691 calls were collected, categorized and attributed to individuals. Repertoire overlap for each subject dyad was compared with an index of association. During 2005-2006, the two juvenile males increased association with the unrelated adult male. By the end of the period, both had begun producing novel calls and call features characteristic of his repertoire. However, there was little or no reciprocal change and the adult females did not acquire his calls. Repertoire overlap and association were significantly correlated in the first period. In the second, median association time and repertoire similarity increased, but the relationship was only marginally significant. The results provided evidence that juvenile male killer whales are capable of learning new call types, possibly stimulated by a change in social association. The pattern of learning was consistent with a selective convergence of male repertoires.

Arylamine N-acetyltransferase (NAT2) mutations and their allelic linkage in unrelated caucasian individuals: Correlation with phenotypic activity

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

Cascorbi, I.; Drakoulis, N.; Brockmoeller, J.

1995-09-01

The polymorphic arylamine N-acetyltransferase (NAT2; EC2.3.1.5) is supposed to be a susceptibility factor for several drug side effects and certain malignancies. A group of 844 unrelated German subjects was genotyped for their acetylation type, and 563 of them were also phenotyped. Seven mutations of the NAT2 gene were evaluated by allele-specific PCR (mutation 341C to T) and PCR-RFLP for mutations at nt positions 191, 282, 481, 590, 803, and 857. From the mutation pattern eight different alleles, including the wild type coding for rapid acetylation and seven alleles coding for slow phenotype, were determined. Four hundred ninety-seven subjects had amore » genotype of slow acetylation (58.9%; 95% confidence limits 55.5%-62.2%). Phenotypic acetylation capacity was expressed as the ratio of 5-acetylamino-6-formylamino-3-methyluracil and 1-methylxanthine in urine after caffeine intake. Some 6.7% of the cases deviated in genotype and phenotype, but sequencing DNA of these probands revealed no new mutations. Furthermore, linkage pattern of the mutations was always confirmed, as tested in 533 subjects. In vivo acetylation capacity of homozygous wild-type subjects (NAT2{sup *}4/{sup *}4) was significantly higher than in heterozygous genotypes (P = .001). All mutant alleles showed low in vivo acetylation capacities, including the previously not-yet-defined alleles {sup *}5A, {sup *}5C, and {sup *}13. Moreover, distinct slow genotypes differed significantly among each other, as reflected in lower acetylation capacity of {sup *}6A, {sup *}7B, and {sup *}13 alleles than the group of {sup *}5 alleles. The study demonstrated differential phenotypic activity of various NAT2 genes and gives a solid basis for clinical and molecular-epidemiological investigations. 34 refs., 4 figs., 7 tabs.« less

Identification of the third/extra allele for forensic application in cases with TPOX tri-allelic pattern.

PubMed

Picanço, Juliane Bentes; Raimann, Paulo Eduardo; Motta, Carlos Henrique Ares Silveira da; Rodenbusch, Rodrigo; Gusmão, Leonor; Alho, Clarice Sampaio

2015-05-01

Genotyping of polymorphic short tandem repeats (STRs) loci is widely used in forensic DNA analysis. STR loci eventually present tri-allelic pattern as a genotyping irregularity and, in that situation, the doubt about the tri-allele locus frequency calculation can reduce the analysis strength. In the TPOX human STR locus, tri-allelic genotypes have been reported with a widely varied frequency among human populations. We investigate whether there is a single extra allele (the third allele) in the TPOX tri-allelic pattern, what it is, and where it is, aiming to understand its genomic anatomy and to propose the knowledge of this TPOX extra allele from genetic profile, thus preserving the two standard TPOX alleles in forensic analyses. We looked for TPOX tri-allelic subjects in 75,113 Brazilian families. Considering only the parental generation (mother+father) we had 150,226 unrelated subjects evaluated. From this total, we found 88 unrelated subjects with tri-allelic pattern in the TPOX locus (0.06%; 88/150,226). Seventy three of these 88 subjects (73/88; 83%) had the Clayton's original Type 2 tri-allelic pattern (three peaks of even intensity). The remaining 17% (15/88) show a new Type 2 derived category with heterozygote peak imbalance (one double dose peak plus one regular sized peak). In this paper we present detailed data from 66 trios (mother+father+child) with true biological relationships. In 39 of these families (39/66; 59%) the extra TPOX allele was transmitted either from the mother or from the father to the child. Evidences indicated the allele 10 as the extra TPOX allele, and it is on the X chromosome. The present data, which support the previous Lane hypothesis, improve the knowledge about tri-allelic pattern of TPOX CODIS' locus allowing the use of TPOX profile in forensic analyses even when with tri-allelic pattern. This evaluation is now available for different forensic applications. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

PubMed

Lake, Nicole J; Webb, Bryn D; Stroud, David A; Richman, Tara R; Ruzzenente, Benedetta; Compton, Alison G; Mountford, Hayley S; Pulman, Juliette; Zangarelli, Coralie; Rio, Marlene; Boddaert, Nathalie; Assouline, Zahra; Sherpa, Mingma D; Schadt, Eric E; Houten, Sander M; Byrnes, James; McCormick, Elizabeth M; Zolkipli-Cunningham, Zarazuela; Haude, Katrina; Zhang, Zhancheng; Retterer, Kyle; Bai, Renkui; Calvo, Sarah E; Mootha, Vamsi K; Christodoulou, John; Rötig, Agnes; Filipovska, Aleksandra; Cristian, Ingrid; Falk, Marni J; Metodiev, Metodi D; Thorburn, David R

2017-08-03

The synthesis of all 13 mitochondrial DNA (mtDNA)-encoded protein subunits of the human oxidative phosphorylation (OXPHOS) system is carried out by mitochondrial ribosomes (mitoribosomes). Defects in the stability of mitoribosomal proteins or mitoribosome assembly impair mitochondrial protein translation, causing combined OXPHOS enzyme deficiency and clinical disease. Here we report four autosomal-recessive pathogenic mutations in the gene encoding the small mitoribosomal subunit protein, MRPS34, in six subjects from four unrelated families with Leigh syndrome and combined OXPHOS defects. Whole-exome sequencing was used to independently identify all variants. Two splice-site mutations were identified, including homozygous c.321+1G>T in a subject of Italian ancestry and homozygous c.322-10G>A in affected sibling pairs from two unrelated families of Puerto Rican descent. In addition, compound heterozygous MRPS34 mutations were identified in a proband of French ancestry; a missense (c.37G>A [p.Glu13Lys]) and a nonsense (c.94C>T [p.Gln32 ∗ ]) variant. We demonstrated that these mutations reduce MRPS34 protein levels and the synthesis of OXPHOS subunits encoded by mtDNA. Examination of the mitoribosome profile and quantitative proteomics showed that the mitochondrial translation defect was caused by destabilization of the small mitoribosomal subunit and impaired monosome assembly. Lentiviral-mediated expression of wild-type MRPS34 rescued the defect in mitochondrial translation observed in skin fibroblasts from affected subjects, confirming the pathogenicity of MRPS34 mutations. Our data establish that MRPS34 is required for normal function of the mitoribosome in humans and furthermore demonstrate the power of quantitative proteomic analysis to identify signatures of defects in specific cellular pathways in fibroblasts from subjects with inherited disease. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Odors as cues for the recall of words unrelated to odor.

PubMed

Morgan, C L

1996-12-01

The effectiveness of an ambient odor as a retrieval cue for words unrelated to odor was investigated. After incidental learning of 40 adjectives, 40 participants were tested for recall during three unannounced recall phases (15 min., 48 hr., and 5 days). Participants in two control conditions learned with no odor present and either had no odor present during any recall phase or only during recall after 5 days. Participants in two conditions learned with an odor present and either had the odor present during recall only after 5 days or during recall both after 15 min. and after 5 days. Analyses indicated that, while participants in the control conditions recalled significantly less during each succeeding recall phase, recall by participants in the two experimental conditions did not decrease significantly. Recall by participants in the two experimental conditions was significantly higher during recall after 5 days (when the odor was reintroduced) than either control group. The addition of a salient cue during learning and retrieval facilitated recall more than the presence of constant environmental cues.

The Locus of Naming Difficulties in Children with Dyslexia: Evidence of Inefficient Phonological Encoding

ERIC Educational Resources Information Center

Truman, Amanda; Hennessey, Neville W.

2006-01-01

Twenty-four children with dyslexia (aged 7;7 to 12;1) and twenty-four age-matched controls named pictures aloud while hearing nonsense syllables either phonologically related (i.e., part of) or unrelated to the target picture name. Compared with controls, dyslexics had slower reaction times overall and, for low frequency items, the degree of…

My Body Had a Mind of Its Own: On Teaching, the Illusion of Control, and the Terrifying Limits of Governmentality (Part 2)

ERIC Educational Resources Information Center

Koza, Julia Eklund

2010-01-01

In the final installment of her two-part essay, Julia Eklund Koza analyzes prevalent control and management discourse in education, specifically, music education. Arguing that dominant understandings are hierarchical, gendered, illusory, and integrally related to projects and practices largely unrelated to schooling, she invites teachers and…

Migraine with aura and risk of silent brain infarcts and white matter hyperintensities: an MRI study

PubMed Central

Garde, Ellen; Blaabjerg, Morten; Nielsen, Helle H.; Krøigård, Thomas; Østergaard, Kamilla; Møller, Harald S.; Hjelmborg, Jacob; Madsen, Camilla G.; Iversen, Pernille; Kyvik, Kirsten O.; Siebner, Hartwig R.; Ashina, Messoud

2016-01-01

Abstract A small number of population-based studies reported an association between migraine with aura and risk of silent brain infarcts and white matter hyperintensities in females. We investigated these relations in a population-based sample of female twins. We contacted female twins ages 30–60 years identified through the population-based Danish Twin Registry. Based on questionnaire responses, twins were invited to participate in a telephone-based interview conducted by physicians. Headache diagnoses were established according to the International Headache Society criteria. Cases with migraine with aura, their co-twins, and unrelated migraine-free twins (controls) were invited to a brain magnetic resonance imaging scan performed at a single centre. Brain scans were assessed for the presence of infarcts, and white matter hyperintensities (visual rating scales and volumetric analyses) blinded to headache diagnoses. Comparisons were based on 172 cases, 34 co-twins, and 139 control subjects. Compared with control subjects, cases did not differ with regard to frequency of silent brain infarcts (four cases versus one control), periventricular white matter hyperintensity scores [adjusted mean difference (95% confidence interval): −0.1 (−0.5 to 0.2)] or deep white matter hyperintensity scores [adjusted mean difference (95% confidence interval): 0.1 (−0.8 to 1.1)] assessed by Scheltens’ scale. Cases had a slightly higher total white matter hyperintensity volume compared with controls [adjusted mean difference (95% confidence interval): 0.17 (−0.08 to 0.41) cm 3 ] and a similar difference was present in analyses restricted to twin pairs discordant for migraine with aura [adjusted mean difference 0.21 (−0.20 to 0.63)], but these differences did not reach statistical significance. We found no evidence of an association between silent brain infarcts, white matter hyperintensities, and migraine with aura. PMID:27190013

Inflammatory potential of diet and risk of laryngeal cancer in a case-control study from Italy.

PubMed

Shivappa, Nitin; Hébert, James R; Rosato, Valentina; Serraino, Diego; La Vecchia, Carlo

2016-08-01

Besides tobacco and alcohol, diet and inflammation have been suggested to be important risk factors for laryngeal cancer. In this study, we examined the role of diet-associated inflammation, as estimated by dietary inflammatory index (DII) scores, in laryngeal cancer in a multicentre case-control study conducted between 1992 and 2000 in Italy. This study included 460 cases with incident, histologically confirmed laryngeal cancer, and 1,088 controls hospitalized for acute non-neoplastic diseases unrelated to tobacco and alcohol consumption. DII scores were computed from a reproducible and valid 78-item food-frequency questionnaire. Logistic regression models controlling for age, sex, study center, education, body mass index, tobacco smoking, alcohol drinking, and non-alcohol energy intake were used to estimate odds ratios (ORs) and the corresponding 95 % confidence intervals (CIs). Subjects with higher DII scores (i.e., with a more pro-inflammatory diet) had a higher risk of laryngeal cancer. The OR was 3.30 (95 % CI 2.06, 5.28; p for trend <0.0001) for the highest versus the lowest DII quartile. When DII was considered as a continuous variable, the OR was 1.27 (95 % CI 1.15, 1.40) for a one-unit (9 % of the DII range) increase. Stratified analyses produced slightly stronger associations between DII and laryngeal cancer risk among Subjects <60 years old (ORquartile4vs1 = 4.68), overweight subjects (ORQuartile4vs1 = 3.62), and among those with higher education (ORQuartile4vs1 = 3.92). We also observed a strong combined effect of higher DII and tobacco smoking or alcohol consumption on risk of laryngeal cancer. Compared with non-smokers having low DII scores, the OR was 6.64 for smokers with high DII scores. Likewise, compared with non/moderate drinkers with low DII, the OR was 5.82 for heavy drinkers with high DII. These results indicate that a pro-inflammatory diet is associated with increased risk of laryngeal cancer.

Long-term interference at the semantic level: Evidence from blocked-cyclic picture matching.

PubMed

Wei, Tao; Schnur, Tatiana T

2016-01-01

Processing semantically related stimuli creates interference across various domains of cognition, including language and memory. In this study, we identify the locus and mechanism of interference when retrieving meanings associated with words and pictures. Subjects matched a probe stimulus (e.g., cat) to its associated target picture (e.g., yarn) from an array of unrelated pictures. Across trials, probes were either semantically related or unrelated. To test the locus of interference, we presented probes as either words or pictures. If semantic interference occurs at the stage common to both tasks, that is, access to semantic representations, then interference should occur in both probe presentation modalities. Results showed clear semantic interference effects independent of presentation modality and lexical frequency, confirming a semantic locus of interference in comprehension. To test the mechanism of interference, we repeated trials across 4 presentation cycles and manipulated the number of unrelated intervening trials (zero vs. two). We found that semantic interference was additive across cycles and survived 2 intervening trials, demonstrating interference to be long-lasting as opposed to short-lived. However, interference was smaller with zero versus 2 intervening trials, which we interpret to suggest that short-lived facilitation counteracted the long-lived interference. We propose that retrieving meanings associated with words/pictures from the same semantic category yields both interference due to long-lasting changes in connection strength between semantic representations (i.e., incremental learning) and facilitation caused by short-lived residual activation. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

20 CFR 220.103 - Two or more unrelated impairments-initial claims.

Code of Federal Regulations, 2010 CFR

2010-04-01

... 20 Employees' Benefits 1 2010-04-01 2010-04-01 false Two or more unrelated impairments-initial... impairments—initial claims. (a) Unrelated severe impairments. Two or more unrelated severe impairments cannot be combined to meet the 12-month duration test. If the claimant has a severe impairment(s) and then...

20 CFR 416.922 - When you have two or more unrelated impairments-initial claims.

Code of Federal Regulations, 2010 CFR

2010-04-01

... impairments-initial claims. 416.922 Section 416.922 Employees' Benefits SOCIAL SECURITY ADMINISTRATION... of Disability § 416.922 When you have two or more unrelated impairments—initial claims. (a) Unrelated severe impairments. We cannot combine two or more unrelated severe impairments to meet the 12-month...

48 CFR 1852.228-78 - Cross-waiver of liability for science or space exploration activities unrelated to the...

Code of Federal Regulations, 2013 CFR

2013-10-01

... for science or space exploration activities unrelated to the International Space Station. 1852.228-78... Cross-waiver of liability for science or space exploration activities unrelated to the International... Liability for Science or Space Exploration Activities Unrelated to the International Space Station (OCT 2012...

48 CFR 1852.228-78 - Cross-waiver of liability for science or space exploration activities unrelated to the...

Code of Federal Regulations, 2014 CFR

2014-10-01

... for science or space exploration activities unrelated to the International Space Station. 1852.228-78... Cross-waiver of liability for science or space exploration activities unrelated to the International... Liability for Science or Space Exploration Activities Unrelated to the International Space Station (OCT 2012...

Sperm quality but not relatedness predicts sperm competition success in threespine sticklebacks (Gasterosteus aculeatus).

PubMed

Mehlis, Marion; Rahn, Anna K; Bakker, Theo C M

2015-04-26

Mating between close relatives often leads to a reduction of an individual's fitness, due to an increased expression of deleterious alleles. Thus, in many animal taxa pre- as well as postcopulatory inbreeding avoidance mechanisms have evolved. An increased risk of inbreeding and hence a loss of genetic variation may occur during founder events as in most cases only few individuals establish a new population. The threespine stickleback (Gasterosteus aculeatus) is a small externally fertilizing fish species subject to strong sperm competition. Sticklebacks inhabit both marine and freshwater environments and anadromous populations have repeatedly established new genetically less diverse freshwater populations. Previous studies showed that anadromous sticklebacks strongly suffer from inbreeding depression and when given the choice females prefer to mate with unrelated males. The present study aimed to address whether there exists a postcopulatory inbreeding avoidance mechanism solely based on sperm-egg interactions in sperm competition experiments. We used F1 individuals that originated either from a large, genetically heterogeneous anadromous population or from a small, genetically less diverse freshwater population. For each population, eggs of two different females were in vitro fertilized by the same two males' sperm in a paired study design. In the main experiment one male was the female's full-sib brother and in the control experiment all individuals were unrelated. The results revealed that fertilization success was independent of relatedness in both populations suggesting a general lack of a postcopulatory inbreeding avoidance mechanism. Instead, male quality (i.e. sperm morphology) predicted paternity success during competitive fertilization trials. In sticklebacks, there is no evidence for postcopulatory inbreeding avoidance. Sperm morphology predicted paternity instead, thus sperm quality traits are under strong sexual selection, presumably driven by the high risk of sperm competition under natural conditions.

Conflict Misleads Large Carnivore Management and Conservation: Brown Bears and Wolves in Spain.

PubMed

Fernández-Gil, Alberto; Naves, Javier; Ordiz, Andrés; Quevedo, Mario; Revilla, Eloy; Delibes, Miguel

2016-01-01

Large carnivores inhabiting human-dominated landscapes often interact with people and their properties, leading to conflict scenarios that can mislead carnivore management and, ultimately, jeopardize conservation. In northwest Spain, brown bears Ursus arctos are strictly protected, whereas sympatric wolves Canis lupus are subject to lethal control. We explored ecological, economic and societal components of conflict scenarios involving large carnivores and damages to human properties. We analyzed the relation between complaints of depredations by bears and wolves on beehives and livestock, respectively, and bear and wolf abundance, livestock heads, number of culled wolves, amount of paid compensations, and media coverage. We also evaluated the efficiency of wolf culling to reduce depredations on livestock. Bear damages to beehives correlated positively to the number of female bears with cubs of the year. Complaints of wolf predation on livestock were unrelated to livestock numbers; instead, they correlated positively to the number of wild ungulates harvested during the previous season, the number of wolf packs, and to wolves culled during the previous season. Compensations for wolf complaints were fivefold higher than for bears, but media coverage of wolf damages was thirtyfold higher. Media coverage of wolf damages was unrelated to the actual costs of wolf damages, but the amount of news correlated positively to wolf culling. However, wolf culling was followed by an increase in compensated damages. Our results show that culling of the wolf population failed in its goal of reducing damages, and suggest that management decisions are at least partly mediated by press coverage. We suggest that our results provide insight to similar scenarios, where several species of large carnivores share the landscape with humans, and management may be reactive to perceived conflicts.

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia.

PubMed

Wilke, Carlo; Gillardon, Frank; Deuschle, Christian; Hobert, Markus A; Jansen, Iris E; Metzger, Florian G; Heutink, Peter; Gasser, Thomas; Maetzler, Walter; Blauwendraat, Cornelis; Synofzik, Matthis

2017-01-01

Reduced progranulin levels are a hallmark of frontotemporal dementia (FTD) caused by loss-of-function (LoF) mutations in the progranulin gene (GRN). However, alterations of central nervous progranulin expression also occur in neurodegenerative disorders unrelated to GRN mutations, such as Alzheimer's disease. We hypothesised that central nervous progranulin levels are also reduced in GRN-negative FTD. Progranulin levels were determined in both cerebrospinal fluid (CSF) and serum in 75 subjects (37 FTD patients and 38 controls). All FTD patients were assessed by whole-exome sequencing for GRN mutations, yielding a target cohort of 34 patients without pathogenic mutations in GRN (GRN-negative cohort) and 3 GRN mutation carriers (2 LoF variants and 1 novel missense variant). Not only the GRN mutation carriers but also the GRN-negative patients showed decreased CSF levels of progranulin (serum levels in GRN-negative patients were normal). The decreased CSF progranulin levels were unrelated to patients' increased CSF levels of total tau, possibly indicating different destructive neuronal processes within FTD neurodegeneration. The patient with the novel GRN missense variant (c.1117C>T, p.P373S) showed substantially decreased CSF levels of progranulin, comparable to the 2 patients with GRN LoF mutations, suggesting a pathogenic effect of this missense variant. Our results indicate that central nervous progranulin reduction is not restricted to the relatively rare cases of FTD caused by GRN LoF mutations, but also contributes to the more common GRN-negative forms of FTD. Central nervous progranulin reduction might reflect a partially distinct pathogenic mechanism underlying FTD neurodegeneration and is not directly linked to tau alterations. © 2016 S. Karger AG, Basel.

Conflict Misleads Large Carnivore Management and Conservation: Brown Bears and Wolves in Spain

PubMed Central

Fernández-Gil, Alberto; Naves, Javier; Ordiz, Andrés; Quevedo, Mario; Revilla, Eloy; Delibes, Miguel

2016-01-01

Large carnivores inhabiting human-dominated landscapes often interact with people and their properties, leading to conflict scenarios that can mislead carnivore management and, ultimately, jeopardize conservation. In northwest Spain, brown bears Ursus arctos are strictly protected, whereas sympatric wolves Canis lupus are subject to lethal control. We explored ecological, economic and societal components of conflict scenarios involving large carnivores and damages to human properties. We analyzed the relation between complaints of depredations by bears and wolves on beehives and livestock, respectively, and bear and wolf abundance, livestock heads, number of culled wolves, amount of paid compensations, and media coverage. We also evaluated the efficiency of wolf culling to reduce depredations on livestock. Bear damages to beehives correlated positively to the number of female bears with cubs of the year. Complaints of wolf predation on livestock were unrelated to livestock numbers; instead, they correlated positively to the number of wild ungulates harvested during the previous season, the number of wolf packs, and to wolves culled during the previous season. Compensations for wolf complaints were fivefold higher than for bears, but media coverage of wolf damages was thirtyfold higher. Media coverage of wolf damages was unrelated to the actual costs of wolf damages, but the amount of news correlated positively to wolf culling. However, wolf culling was followed by an increase in compensated damages. Our results show that culling of the wolf population failed in its goal of reducing damages, and suggest that management decisions are at least partly mediated by press coverage. We suggest that our results provide insight to similar scenarios, where several species of large carnivores share the landscape with humans, and management may be reactive to perceived conflicts. PMID:26974962

Individual Variability in Aerobic Fitness Adaptations to 70-d of Bed Rest and Exercise Training

NASA Technical Reports Server (NTRS)

Downs, Meghan; Buxton, Roxanne; Goetchius, Elizabeth; DeWitt, John; Ploutz-Snyder, Lori

2016-01-01

Change in maximal aerobic capacity (VO2pk) in response to exercise training and disuse is highly variable among individuals. Factors that could contribute to the observed variability (lean mass, daily activity, diet, sleep, stress) are not routinely controlled in studies. The NASA bed rest (BR) studies use a highly controlled hospital based model as an analog of spaceflight. In this study, diet, hydration, physical activity and light/dark cycles were precisely controlled and provided the opportunity to investigate individual variability. PURPOSE. Evaluate the contribution of exercise intensity and lean mass on change in VO2pk during 70-d of BR or BR + exercise. METHODS. Subjects completed 70-d of BR alone (CON, N=9) or BR + exercise (EX, N=17). The exercise prescription included 6 d/wk of aerobic exercise at 70 - 100% of max and 3 d/wk of lower body resistance exercise. Subjects were monitored 24 hr/d. VO2pk and lean mass (iDXA) were measured pre and post BR. ANOVA was used to evaluate changes in VO2pk pre to post BR. Subjects were retrospectively divided into high and low responders based on change in VO2pk (CON > 20% loss, n=5; EX >10% loss, n=4, or 5% gain, n=4) to further understand individual variability. RESULTS. VO2pk decreased from pre to post BR in CON (P<0.05) and was maintained in EX; however, significant individual variability was observed (CON: -22%, range: -39% to -.5%; EX: -1.8%, range: -16% to 12.6%). The overlap in ranges between groups included 3 CON who experienced smaller reduction in VO2pk (<16%) than the worst responding EX subjects. Individual variability was maintained when VO2pk was normalized to lean mass (range, CON: -33.7% to -5.7%; EX: -15.8% to 11%), and the overlap included 5 CON with smaller reductions in VO2pk than the worst responding EX subjects. High responders to disuse also lost the most lean mass; however, this relationship was not maintained in EX (i.e. the largest gains/losses in lean mass were observed in both high and low responders). Change in VO2pk was not related to exercise intensity. CONCLUSION. Change in VO2pk in response to disuse and exercise was highly variable among individuals, even in this tightly controlled study. Loss in lean mass accounts for a significant degree of variability in the CON; however, training induced gains in VO2pk appear unrelated to lean mass or exercise intensity.

Developing and Evaluating Medical Humanities Problem-Based Learning Classes Facilitated by the Teaching Assistants Majored in the Liberal Arts: A Longitudinal Crossover Study.

PubMed

Tseng, Fen-Yu; Shieh, Jeng-Yi; Kao, Tze-Wah; Wu, Chau-Chung; Chu, Tzong-Shinn; Chen, Yen-Yuan

2016-02-01

Although medical humanities courses taught by teachers from nonmedical backgrounds are not unusual now, few studies have compared the outcome of medical humanities courses facilitated by physicians to that by teaching assistants majored in the liberal arts. The objectives of this study were to (1) analyze the satisfaction of medical students with medical humanities problem-based learning (PBL) classes facilitated by nonmedical teaching assistants (TAF) majored in the liberal arts, and those facilitated by the attending physicians (APF) and (2) examine the satisfaction of medical students with clinical medicine-related and clinical medicine-unrelated medical humanities PBL classes.A total of 123 medical students, randomly assigned to 16 groups, participated in this study. There were 16 classes in the course: 8 of them were TAF classes; and the others were APF classes. Each week, each group rotated from 1 subject of the 16 subjects of PBL to another subject. All of the 16 groups went through all the 16 subjects in the 2013 spring semester. We examined the medical students' satisfaction with each class, based on a rating score collected after each class was completed, using a scale from 0 (the lowest satisfaction) to 100 (the highest satisfaction). We also conducted multivariate linear regression analysis to examine the association between the independent variables and the students' satisfaction.Medical students were more satisfied with the TAF (91.35 ± 7.75) medical humanities PBL classes than APF (90.40 ± 8.42) medical humanities PBL classes (P = 0.01). Moreover, medical students were more satisfied with the clinical medicine-unrelated topics (92.00 ± 7.10) than the clinical medicine-related topics (90.36 ± 7.99) in the medical humanities PBL course (P = 0.01).This medical humanities PBL course, including nonmedical subjects and topics, and nonmedical teaching assistants from the liberal arts as class facilitators, was satisfactory. This pedagogical approach of student-centered, nonmedical topics, nonmedical facilitators, and small groups, which is associated with a deep approach to learning medical humanities, should be highly encouraged.

Developing and Evaluating Medical Humanities Problem-Based Learning Classes Facilitated by the Teaching Assistants Majored in the Liberal Arts

PubMed Central

Tseng, Fen-Yu; Shieh, Jeng-Yi; Kao, Tze-Wah; Wu, Chau-Chung; Chu, Tzong-Shinn; Chen, Yen-Yuan

2016-01-01

Abstract Although medical humanities courses taught by teachers from nonmedical backgrounds are not unusual now, few studies have compared the outcome of medical humanities courses facilitated by physicians to that by teaching assistants majored in the liberal arts. The objectives of this study were to (1) analyze the satisfaction of medical students with medical humanities problem-based learning (PBL) classes facilitated by nonmedical teaching assistants (TAF) majored in the liberal arts, and those facilitated by the attending physicians (APF) and (2) examine the satisfaction of medical students with clinical medicine-related and clinical medicine-unrelated medical humanities PBL classes. A total of 123 medical students, randomly assigned to 16 groups, participated in this study. There were 16 classes in the course: 8 of them were TAF classes; and the others were APF classes. Each week, each group rotated from 1 subject of the 16 subjects of PBL to another subject. All of the 16 groups went through all the 16 subjects in the 2013 spring semester. We examined the medical students’ satisfaction with each class, based on a rating score collected after each class was completed, using a scale from 0 (the lowest satisfaction) to 100 (the highest satisfaction). We also conducted multivariate linear regression analysis to examine the association between the independent variables and the students’ satisfaction. Medical students were more satisfied with the TAF (91.35 ± 7.75) medical humanities PBL classes than APF (90.40 ± 8.42) medical humanities PBL classes (P = 0.01). Moreover, medical students were more satisfied with the clinical medicine-unrelated topics (92.00 ± 7.10) than the clinical medicine-related topics (90.36 ± 7.99) in the medical humanities PBL course (P = 0.01). This medical humanities PBL course, including nonmedical subjects and topics, and nonmedical teaching assistants from the liberal arts as class facilitators, was satisfactory. This pedagogical approach of student-centered, nonmedical topics, nonmedical facilitators, and small groups, which is associated with a deep approach to learning medical humanities, should be highly encouraged. PMID:26871828

Comprehension and production of idioms in dysphasia.

PubMed

Bush, P G; Drummond, S S

1985-10-01

The comprehension and production of idioms was investigated in 10 dysphasic adults. Two different tasks, one comprehension and the other production, were developed. The production task required the subject to verbally explain 15 idioms. The comprehension task necessitated the selection of the correct figurative representation of the idiom from four illustrations: a literal, a literal variation, a figurative, and an unrelated picture. Results indicated no significant correlation between overall comprehension and production performances. No significant difference was found between the comprehension or the production of idioms when type or severity of dysphasia was considered. A significant difference was found, however, in the type of incorrect response, in that subjects selected the literal depiction more often than other foil representations for the comprehension.

True self-alienation positively predicts reports of mindwandering.

PubMed

Vess, Matthew; Leal, Stephanie A; Hoeldtke, Russell T; Schlegel, Rebecca J; Hicks, Joshua A

2016-10-01

Two studies assessed the relationship between feelings of uncertainty about who one truly is (i.e., true self-alienation) and self-reported task-unrelated thoughts (i.e., mindwandering) during performance tasks. Because true self-alienation is conceptualized as the subjective disconnect between conscious awareness and actual experience, we hypothesized that greater feelings of true self-alienation would positively relate to subjective reports of mindwandering. Two convergent studies supported this hypothesis. Moreover, this relationship could not consistently be accounted for by the independent influence of other aspects of authenticity, negative mood, mindfulness, or broad personality dimensions. These findings suggest that individual differences in true self-alienation are reliably associated with subjective reports of mindwandering. The implications of these findings for the true self-alienation construct, the ways that personality relates to mindwandering, and future research directions focused on curtailing mindwandering and improving performance and achievement are discussed. Copyright © 2016 Elsevier Inc. All rights reserved.

A reward prediction error for charitable donations reveals outcome orientation of donators

PubMed Central

Kuss, Katarina; Falk, Armin; Trautner, Peter; Elger, Christian E.; Weber, Bernd

2013-01-01

The motives underlying prosocial behavior, like charitable donations, can be related either to actions or to outcomes. To address the neural basis of outcome orientation in charitable giving, we asked 33 subjects to make choices affecting their own payoffs and payoffs to a charity organization, while being scanned by functional magnetic resonance imaging (fMRI). We experimentally induced a reward prediction error (RPE) by subsequently discarding some of the chosen outcomes. Co-localized to a nucleus accumbens BOLD signal corresponding to the RPE for the subject's own payoff, we observed an equivalent RPE signal for the charity's payoff in those subjects who were willing to donate. This unique demonstration of a neuronal RPE signal for outcomes exclusively affecting unrelated others indicates common brain processes during outcome evaluation for selfish, individual and nonselfish, social rewards and strongly suggests the effectiveness of outcome-oriented motives in charitable giving. PMID:22198972

CYP2A6 genotype and smoking behavior in current smokers screened for lung cancer.

PubMed

Styn, Mindi A; Nukui, Tomoko; Romkes, Marjorie; Perkins, Kenneth A; Land, Stephanie R; Weissfeld, Joel L

2013-05-01

Functional CYP2A6 genetic variation partially determines nicotine metabolism. In 2005, we examined functional CYP2A6 variants associated with reduced metabolism (CYP2A6*2, CYP2A6*9, CYP2A6*4), smoking history, and change in smoking in 878 adult smokers undergoing lung cancer screening in an urban setting. At one year, 216 quit smoking for more than 30 days while 662 continued smoking. Compared to subjects who smoked 30 cigarettes per day at baseline, the odds of a reduced metabolism genotype was 52% higher in subjects smoking 20-29 cigarettes per day and 86% higher in subjects smoking less than 20 cigarettes per day (p-trend = 0.016). Reduced metabolism genotypes appeared unrelated to quitting. Though related to smoking dose, CYP2A6 may not influence cessation.

Unhappy with internal corporate search? : learn tips and tricks for building a controlled vocabulary ontology.

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

Arpin, Bettina Karin Schimanski; Jones, Brian S.; Bemesderfer, Joy

2010-06-01

Are your employees unhappy with internal corporate search? Frequent complaints include: too many results to sift through; results are unrelated/outdated; employees aren't sure which terms to search for. One way to improve intranet search is to implement a controlled vocabulary ontology. Employing this takes the guess work out of searching, makes search efficient and precise, educates employees about the lingo used within the corporation, and allows employees to contribute to the corpus of terms. It promotes internal corporate search to rival its superior sibling, internet search. We will cover our experiences, lessons learned, and conclusions from implementing a controlled vocabularymore » ontology at Sandia National Laboratories. The work focuses on construction of this ontology from the content perspective and the technical perspective. We'll discuss the following: (1) The tool we used to build a polyhierarchical taxonomy; (2) Examples of two methods of indexing the content: traditional 'back of the book' and folksonomy word-mapping; (3) Tips on how to build future search capabilities while building the basic controlled vocabulary; (4) How to implement the controlled vocabulary as an ontology that mimics Google's search suggestions; (5) Making the user experience more interactive and intuitive; and (6) Sorting suggestions based on preferred, alternate and related terms using SPARQL queries. In summary, future improvements will be presented, including permitting end-users to add, edit and remove terms, and filtering on different subject domains.« less

Human autonomic rhythms: vagal cardiac mechanisms in tetraplegic subjects

NASA Technical Reports Server (NTRS)

Koh, J.; Brown, T. E.; Beightol, L. A.; Ha, C. Y.; Eckberg, D. L.

1994-01-01

1. We studied eight young men (age range: 20-37 years) with chronic, clinically complete high cervical spinal cord injuries and ten age-matched healthy men to determine how interruption of connections between the central nervous system and spinal sympathetic motoneurones affects autonomic cardiovascular control. 2. Baseline diastolic pressures and R-R intervals (heart periods) were similar in the two groups. Slopes of R-R interval responses to brief neck pressure changes were significantly lower in tetraplegic than in healthy subjects, but slopes of R-R interval responses to steady-state arterial pressure reductions and increases were comparable. Plasma noradrenaline levels did not change significantly during steady-state arterial pressure reductions in tetraplegic patients, but rose sharply in healthy subjects. The range of arterial pressure and R-R interval responses to vasoactive drugs (nitroprusside and phenylephrine) was significantly greater in tetraplegic than healthy subjects. 3. Resting R-R interval spectral power at respiratory and low frequencies was similar in the two groups. During infusions of vasoactive drugs, low-frequency R-R interval spectral power was directly proportional to arterial pressure in tetraplegic patients, but was unrelated to arterial pressure in healthy subjects. Vagolytic doses of atropine nearly abolished both low- and respiratory-frequency R-R interval spectral power in both groups. 4. Our conclusions are as follows. First, since tetraplegic patients have significant levels of low-frequency arterial pressure and R-R interval spectral power, human Mayer arterial pressure waves may result from mechanisms that do not involve stimulation of spinal sympathetic motoneurones by brainstem neurones. Second, since in tetraplegic patients, low-frequency R-R interval spectral power is proportional to arterial pressure, it is likely to be mediated by a baroreflex mechanism. Third, since low-frequency R-R interval rhythms were nearly abolished by atropine in both tetraplegic and healthy subjects, these rhythms reflect in an important way rhythmic firing of vagal cardiac motoneurones.

Exploring conflict- and target-related movement of visual attention.

PubMed

Wendt, Mike; Garling, Marco; Luna-Rodriguez, Aquiles; Jacobsen, Thomas

2014-01-01

Intermixing trials of a visual search task with trials of a modified flanker task, the authors investigated whether the presentation of conflicting distractors at only one side (left or right) of a target stimulus triggers shifts of visual attention towards the contralateral side. Search time patterns provided evidence for lateral attention shifts only when participants performed the flanker task under an instruction assumed to widen the focus of attention, demonstrating that instruction-based control settings of an otherwise identical task can impact performance in an unrelated task. Contrasting conditions with response-related and response-unrelated distractors showed that shifting attention does not depend on response conflict and may be explained as stimulus-conflict-related withdrawal or target-related deployment of attention.

It's Greek to me: Domain specific relationships between intellectual helplessness and academic performance.

PubMed

Krejtz, Izabela; Nezlek, John B

2016-01-01

In a study of the domain specificity of intellectual learned helplessness, we collected data from 376 students in 14 classrooms. We measured feelings of intellectual helplessness for mathematics and language skills, anxiety about performance in each of these domains, and general working memory. Multilevel modeling analyses found that feelings of helplessness in language skills were negatively related to grades in language but were unrelated to grades in mathematics. Similarly, feelings of helplessness in mathematics were negatively related to grades in mathematics but were unrelated to grades in language. Controlling for anxiety or working memory did not change these relationships, nor did they vary across the age of students. The results support conceptualizations in which learned helplessness has a domain specific component.

FoxP2 is significantly associated with schizophrenia and major depression in the Chinese Han population.

PubMed

Li, Tao; Zeng, Zhen; Zhao, Qian; Wang, Ti; Huang, Ke; Li, Junyan; Li, You; Liu, Jie; Wei, Zhiyun; Wang, Yang; Feng, Guoyin; He, Lin; Shi, Yongyong

2013-03-01

The FoxP2 gene, located on 7q31, encodes a transcription factor. It was first discovered through investigations of a large multigenerational family (the KE family) with a rare severe speech and language disorder (Fisher et al., Nat. Genet. 1998;18:168; Lai et al., Nature 2001;413:519). Subsequent studies gave powerful and convincing functional evidence to the connection between FoxP2 and language disorder ( Vernes et al. 2006 ; Groszer et al., Curr Biol 2008;18:354; Vernes et al., New Engl J Med 359(22):2337). Language disorder is commonly considered as a core symptom of schizophrenia and some other mental diseases; thus, we decided to investigate whether the FoxP2 gene played a significant role in schizophrenia, major depression or bipolar disorder in a sample set recruited from the Chinese Han population. In this study, we focused on 12 SNPs in the FoxP2 gene and carried out case-control studies in 1135 schizophrenia patients, 1135 unrelated major depression patients, 1135 unrelated bipolar disorder patients and 1135 unrelated normal controls recruited from the Chinese Han population. We found rs10447760 was significantly associated with schizophrenia (allelic P = 0.00069) and major depression (allelic P = 0.0011). Our study indicated that the rare variant rs10447760 in FoxP2 may play an important role in schizophrenia and major depression in the Chinese Han population.

Unrelated Helpers in a Primitively Eusocial Wasp: Is Helping Tailored Towards Direct Fitness?

PubMed Central

Leadbeater, Ellouise; Carruthers, Jonathan M.; Green, Jonathan P.; van Heusden, Jasper; Field, Jeremy

2010-01-01

The paper wasp Polistes dominulus is unique among the social insects in that nearly one-third of co-foundresses are completely unrelated to the dominant individual whose offspring they help to rear and yet reproductive skew is high. These unrelated subordinates stand to gain direct fitness through nest inheritance, raising the question of whether their behaviour is adaptively tailored towards maximizing inheritance prospects. Unusually, in this species, a wealth of theory and empirical data allows us to predict how unrelated subordinates should behave. Based on these predictions, here we compare helping in subordinates that are unrelated or related to the dominant wasp across an extensive range of field-based behavioural contexts. We find no differences in foraging effort, defense behaviour, aggression or inheritance rank between unrelated helpers and their related counterparts. Our study provides no evidence, across a number of behavioural scenarios, that the behaviour of unrelated subordinates is adaptively modified to promote direct fitness interests. PMID:20700463

Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.

PubMed

Valayannopoulos, Vassili; Malinova, Vera; Honzík, Tomas; Balwani, Manisha; Breen, Catherine; Deegan, Patrick B; Enns, Gregory M; Jones, Simon A; Kane, John P; Stock, Eveline O; Tripuraneni, Radhika; Eckert, Stephen; Schneider, Eugene; Hamilton, Gavin; Middleton, Michael S; Sirlin, Claude; Kessler, Bruce; Bourdon, Christopher; Boyadjiev, Simeon A; Sharma, Reena; Twelves, Chris; Whitley, Chester B; Quinn, Anthony G

2014-11-01

Lysosomal acid lipase deficiency is an autosomal recessive enzyme deficiency resulting in lysosomal accumulation of cholesteryl esters and triglycerides. LAL-CL04, an ongoing extension study, investigates the long-term effects of sebelipase alfa, a recombinant human lysosomal acid lipase. Sebelipase alfa (1mg/kg or 3mg/kg) was infused every-other-week to eligible subjects. Safety and tolerability assessments, including liver function, lipid profiles and liver volume assessment, were carried out at regular intervals. 216 infusions were administered to eight adult subjects through week 52 during LAL-CL04. At week 52, mean alanine aminotransferase and aspartate aminotransferase levels were normal with mean change from baseline of -58% and -40%. Mean changes for low-density lipoprotein, total cholesterol, triglyceride and high-density lipoprotein were -60%, -39%, -36%, and +29%, respectively. Mean liver volume by magnetic resonance imaging and hepatic proton density fat fraction decreased (12% and 55%, respectively). Adverse events were mainly mild and unrelated to sebelipase alfa. Infusion-related reactions were uncommon: three events of moderate severity were reported in two subjects; one patient's event was suggestive of a hypersensitivity-like reaction, but additional testing did not confirm this, and the subject has successfully re-started sebelipase alfa. Of samples tested to date, no anti-drug antibodies have been detected. Long-term dosing with sebelipase alfa in lysosomal acid lipase-deficient patients is well tolerated and produces sustained reductions in transaminases, improvements in serum lipid profile and reduction in the hepatic fat fraction. A randomized, placebo-controlled phase 3 trial in children and adults is underway (ARISE: NCT01757184). Copyright © 2014 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency

PubMed Central

Valayannopoulos, Vassili; Malinova, Vera; Honzík, Tomas; Balwani, Manisha; Breen, Catherine; Deegan, Patrick B.; Enns, Gregory M.; Jones, Simon A.; Kane, John P.; Stock, Eveline O.; Tripuraneni, Radhika; Eckert, Stephen; Schneider, Eugene; Hamilton, Gavin; Middleton, Michael S.; Sirlin, Claude; Kessler, Bruce; Bourdon, Christopher; Boyadjiev, Simeon A.; Sharma, Reena; Twelves, Chris; Whitley, Chester B.; Quinn, Anthony G.

2014-01-01

Background and aims Lysosomal Acid Lipase Deficiency is an autosomal recessive enzyme deficiency resulting in lysosomal accumulation of cholesteryl esters and triglycerides. LAL-CL04, an ongoing extension study, investigates the long-term effects of sebelipase alfa, a recombinant human lysosomal acid lipase. Methods Sebelipase alfa (1 mg/kg or 3 mg/kg) was infused every-other-week to eligible subjects. Safety and tolerability assessments, including liver function, lipid profiles and liver volume assessment, were carried out at regular intervals. Results 216 infusions were administered to eight adult subjects through Week 52 during LAL-CL04. At Week 52, mean alanine aminotransferase and aspartate aminotransferase were normal with mean change from baseline of −58% and −40%. Mean change for low density lipoprotein, total cholesterol, triglyceride and high-density lipoprotein were −60%, −39%, −36%, and +29%, respectively. Mean liver volume by magnetic resonance imaging and hepatic proton density fat fraction decreased (12% and 55%, respectively). Adverse events were mainly mild and unrelated to sebelipase alfa. Infusion-related reactions were uncommon: three events of moderate severity were reported in two subjects; one patient's event was suggestive of hypersensitivity-like reaction, but additional testing did not confirm this, and the subject has successfully re-started sebelipase alfa. Of samples tested to date, no anti-drug antibodies have been detected. Conclusions Long-term dosing with sebelipase alfa in Lysosomal Acid Lipase-Deficient patients is well tolerated and produces sustained reductions in transaminases, improvements in serum lipid profile and reduction in hepatic fat fraction. A randomized, placebo-controlled phase 3 trial in children and adults is underway (ARISE: NCT01757184). PMID:24993530

Digital data registration and differencing compression system

NASA Technical Reports Server (NTRS)

Ransford, Gary A. (Inventor); Cambridge, Vivien J. (Inventor)

1990-01-01

A process is disclosed for x ray registration and differencing which results in more efficient compression. Differencing of registered modeled subject image with a modeled reference image forms a differenced image for compression with conventional compression algorithms. Obtention of a modeled reference image includes modeling a relatively unrelated standard reference image upon a three-dimensional model, which three-dimensional model is also used to model the subject image for obtaining the modeled subject image. The registration process of the modeled subject image and modeled reference image translationally correlates such modeled images for resulting correlation thereof in spatial and spectral dimensions. Prior to compression, a portion of the image falling outside a designated area of interest may be eliminated, for subsequent replenishment with a standard reference image. The compressed differenced image may be subsequently transmitted and/or stored, for subsequent decompression and addition to a standard reference image so as to form a reconstituted or approximated subject image at either a remote location and/or at a later moment in time. Overall effective compression ratios of 100:1 are possible for thoracic x ray digital images.

Digital Data Registration and Differencing Compression System

NASA Technical Reports Server (NTRS)

Ransford, Gary A. (Inventor); Cambridge, Vivien J. (Inventor)

1996-01-01

A process for X-ray registration and differencing results in more efficient compression. Differencing of registered modeled subject image with a modeled reference image forms a differenced image for compression with conventional compression algorithms. Obtention of a modeled reference image includes modeling a relatively unrelated standard reference image upon a three-dimensional model, which three-dimensional model is also used to model the subject image for obtaining the modeled subject image. The registration process of the modeled subject image and modeled reference image translationally correlates such modeled images for resulting correlation thereof in spatial and spectral dimensions. Prior to compression, a portion of the image falling outside a designated area of interest may be eliminated, for subsequent replenishment with a standard reference image. The compressed differenced image may be subsequently transmitted and/or stored, for subsequent decompression and addition to a standard reference image so as to form a reconstituted or approximated subject image at either a remote location and/or at a later moment in time. Overall effective compression ratios of 100:1 are possible for thoracic X-ray digital images.

Digital data registration and differencing compression system

NASA Technical Reports Server (NTRS)

Ransford, Gary A. (Inventor); Cambridge, Vivien J. (Inventor)

1992-01-01

A process for x ray registration and differencing results in more efficient compression is discussed. Differencing of registered modeled subject image with a modeled reference image forms a differential image for compression with conventional compression algorithms. Obtention of a modeled reference image includes modeling a relatively unrelated standard reference image upon a three dimensional model, which three dimensional model is also used to model the subject image for obtaining the modeled subject image. The registration process of the modeled subject image and modeled reference image translationally correlates such modeled images for resulting correlation thereof in spatial and spectral dimensions. Prior to compression, a portion of the image falling outside a designated area of interest may be eliminated, for subsequent replenishment with a standard reference image. The compressed differenced image may be subsequently transmitted and/or stored, for subsequent decompression and addition to a standard reference image so as to form a reconstituted or approximated subject image at either remote location and/or at a later moment in time. Overall effective compression ratios of 100:1 are possible for thoracic x ray digital images.

Laron syndrome abnormalities: spinal stenosis, os odontoideum, degenerative changes of the atlanto-odontoid joint, and small oropharynx.

PubMed

Kornreich, Liora; Horev, Gadi; Schwarz, Michael; Karmazyn, Boaz; Laron, Zvi

2002-04-01

Patients with Laron syndrome have an inborn growth hormone resistance. We investigated abnormalities in the upper airways and cervical spine in patients with Laron syndrome. We prospectively examined 11 patients (one child aged 9 years and 10 adults aged 36-68 years), 10 of whom underwent MR imaging of the spine or head; nine, radiography of the cervical spine; and four, CT of C1-C2. The width of the spinal canal was evaluated visually and quantitatively and compared with reference values. The smallest diameter of the oropharynx and the thickness of the palate were measured and compared with reference values. Nine age-matched female patients referred for MR imaging for unrelated reasons served as control subjects. Cervical spinal stenosis was present in seven of the adult patients, within a confidence interval of 95%. Anomaly of the dens compatible with os odontoideum was present in three patients, causing focal myelomalacia in two. The atlanto-odontoid joint showed osteoarthritic changes in six of the adult patients. The mediolateral diameter of the oropharynx was significantly smaller in the patients with Laron syndrome than in the control subjects (P <.005). There was no difference in the thickness of the soft palate. Patients with Laron syndrome develop significant narrowing of the cervical spinal canal and early degenerative changes of the atlanto-odontoid joint. Laron syndrome is associated with os odontoideum causing myelomalacia. The dimensions of the oropharynx are small. Patients may be prone to neurologic morbidity and sleep disturbances. Routine MR imaging of the cervical spine is recommended in these patients.

The 223A>G polymorphism of the leptin receptor gene is associated with macroangiopathy in type 2 diabetes mellitus.

PubMed

Gan, Run-Tao; Yang, Shu-Sen

2012-04-01

To determine whether leptin receptor (LEPR) 223A>G polymorphism has an effect on the plasma leptin levels and the macroangiopathic complications in type 2 diabetes mellitus (T2DM). The genotypes and allelic frequencies of the LEPR 223A>G were examined with polymerase chain reaction and restriction fragment length polymorphism in 301 patients with T2DM and 172 unrelated healthy subjects. The plasma concentrations of leptin were determined in all subjects. The mean plasma leptin levels in the T2DM group were significantly higher than that of controls and the plasma levels of leptin were higher in diabetic patients with macroangiopathy than in patients without macroangiopathy (P < 0.05). The genotype (GG, AG and AA) distribution of 223A>G polymorphism was 58.3, 32.5, and 9.2% in diabetic patients with macroangiopathy, 75.3, 22.1, and 2.6% in patients without macroangiopathy, and 70.3, 27.5, 2.2% in controls respectively, a significant difference was found between diabetic patients with and without macroangiopathy (P < 0.05). The frequency of the allele A was higher in patients with macroangiopathy than in patients without macroangiopathy (25.6 vs. 16.3%; P < 0.05). Moreover, the plasma leptin levels were markedly higher in patients with AA genotype than those with AG or GG genotype in patients with macroangiopathy (P < 0.05). The LEPR 223A>G gene polymorphism associated with a predisposition to increased plasma leptin levels could constitute a useful predictive marker for diabetic macroangiopathy.

How Adults' Access to Outpatient Physician Services Relates to the Local Supply of Primary Care Physicians in the Rural Southeast

PubMed Central

Pathman, Donald E; Ricketts, Thomas C; Konrad, Thomas R

2006-01-01

Objective To examine how access to outpatient medical care varies with local primary care physician densities across primary care service areas (PCSAs) in the rural Southeast, for adults as a whole and separately for the elderly and poor. Data Sources Access data from a 2002 to 2003 telephone survey of 4,311 adults living in 298 PCSAs within 150 rural counties in eight Southeastern states were linked geographically with physician practice location data from the American Medical and American Osteopathic Associations and population data from the U.S. Census. Study Design In a cross-sectional study design, we used a series of logistic regression models to assess how 26 measures of various aspects of access to outpatient physician services varied for subjects arranged into five groups based on the population-per-physician ratios of the PCSAs where they lived. Principal Findings Among adults as a whole, more individuals reported traveling over 30 minutes for outpatient care in PCSAs with more than 3,500 people per physician than in PCSAs with fewer than 1,500 people per physician (39.1 versus 18.5 percent, p<.001) and more reported travel difficulties. Otherwise, PCSA density of primary care physicians was unrelated to reported barriers to care, unrelated to people's satisfaction with care, and unrelated to indicators of people's use of services. Use rates of six recommended preventive health services varied in no consistent direction with physician densities. Among the elderly, only the proportion traveling over 30 minutes for care was greater in areas with lowest physician densities. Among subjects covered under Medicaid or uninsured, lower local physician densities were associated with longer travel time, difficulties with travel and reaching one's physician by phone, and two areas of dissatisfaction with care. Conclusions For adults as a whole in the rural South and for the elderly there, low local primary care physician densities are associated with travel inconvenience but not convincingly with other aspects of access to outpatient care. Access for those insured under Medicaid and the uninsured, however, is in more ways sensitive to local physician densities. PMID:16430602

A novel germline PALB2 deletion in Polish breast and ovarian cancer patients.

PubMed

Dansonka-Mieszkowska, Agnieszka; Kluska, Anna; Moes, Joanna; Dabrowska, Michalina; Nowakowska, Dorota; Niwinska, Anna; Derlatka, Pawel; Cendrowski, Krzysztof; Kupryjanczyk, Jolanta

2010-02-02

PALB2 protein was recently identified as a partner of BRCA1 and BRCA2 which determines their proper function in DNA repair. Initially, the entire coding sequence of the PALB2 gene with exon/intron boundaries was evaluated by the PCR-SSCP and direct sequencing methods on 70 ovarian carcinomas. Sequence variants of interest were further studied on enlarged groups of ovarian carcinomas (total 339 non-consecutive ovarian carcinomas), blood samples from 334 consecutive sporadic and 648 consecutive familial breast cancer patients, and 1310 healthy controls from central Poland. Ten types of sequence variants were detected, and among them four novel polymorphisms: c.2996+58T>C in intron 9; c.505C>A (p.L169I), c.618T>G (p.L206L), both in exon 4; and c.2135C>T (A712V) in exon 5 of the PALB2 gene. Another two polymorphisms, c.212-58A>C and c.2014G>C (E672Q) were always detected together, both in cancer (7.5% of patients) and control samples (4.9% of controls, p = 0.2). A novel germline truncating mutation, c.509_510delGA (p.R170fs) was found in exon 4: in 2 of 339 (0.6%) unrelated ovarian cancer patients, in 4 of 648 (0.6%) unrelated familial breast cancer patients, and in 1 of 1310 controls (0.08%, p = 0.1, p = 0.044, respectively). One ovarian cancer patient with the PALB2 mutation had also a germline nonsense mutation of the BRCA2 gene. The c.509_510delGA is a novel PALB2 mutation that increases the risk of familial breast cancer. Occurrence of the same PALB2 alteration in seven unrelated women suggests that c.509_510delGA (p.R170fs) is a recurrent mutation for Polish population.

Relationship of Academic Job Involvement To Biographical Data, Personal Characteristics, and Academic Performance.

ERIC Educational Resources Information Center

Edwards, Jack E.; Waters, L. K.

1980-01-01

A job involvement measure adapted to reflect course involvement was unrelated to age, sex, class rank, and tested verbal ability. However, it was significantly and positively related to achievement motivation, locus of control, Protestant ethic attitudes, academic satisfaction, and performance. (Author/CP)

Changing the Sexual Aggression-Supportive Attitudes of Men: A Psychoeducational Intervention.

ERIC Educational Resources Information Center

Gilbert, Barbara J.; And Others

1991-01-01

Assessed psychoeducational intervention designed to change attitudes of men found to be associated with sexual aggression toward women. College men receiving elaboration likelihood model-based intervention showed significantly more attitude change than did control group. One month later, in unrelated naturalistic context, intervention subjects…

Deranged endocannabinoid responses to hedonic eating in underweight and recently weight-restored patients with anorexia nervosa.

PubMed

Monteleone, Alessio Maria; Di Marzo, Vincenzo; Aveta, Teresa; Piscitelli, Fabiana; Dalle Grave, Riccardo; Scognamiglio, Pasquale; El Ghoch, Marwan; Calugi, Simona; Monteleone, Palmiero; Maj, Mario

2015-02-01

A dysregulation of reward mechanisms was suggested in the pathophysiology of anorexia nervosa (AN), but the role of the endogenous mediators of reward has been poorly investigated. Endocannabinoids, including anandamide and 2-arachidonoylglycerol, and the endocannabinoid-related compounds oleoylethanolamide and palmitoylethanolamide modulate food-related and unrelated reward. Hedonic eating, which is the consumption of food just for pleasure and not homeostatic need, is a suitable paradigm to explore food-related reward. We investigated responses of endocannabinoids and endocannabinoid-related compounds to hedonic eating in AN. Peripheral concentrations of anandamide, 2-arachidonoylglycerol, oleoylethanolamide, and palmitoylethanolamide were measured in 7 underweight and 7 weight-restored AN patients after eating favorite and nonfavorite foods in the condition of no homeostatic needs, and these measurements were compared with those of previously studied healthy control subjects. 1) In healthy controls, plasma 2-arachidonoylglycerol concentrations decreased after both types of meals but were significantly higher in hedonic eating; in underweight AN patients, 2-arachidonoylglycerol concentrations did not show specific time patterns after eating either favorite or nonfavorite foods, whereas in weight-restored patients, 2-arachidonoylglycerol concentrations showed similar increases with both types of meals. 2) Anandamide plasma concentrations exhibited no differences in their response patterns to hedonic eating in the groups. 3) Compared with 2-arachidonoylglycerol, palmitoylethanolamide concentrations exhibited an opposite response pattern to hedonic eating in healthy controls; this pattern was partially preserved in underweight AN patients but not in weight-restored ones. 4) Like palmitoylethanolamide, oleoylethanolamide plasma concentrations tended to be higher in nonhedonic eating than in hedonic eating in healthy controls; moreover, no difference between healthy subjects and AN patients was observed for food-intake-induced changes in oleoylethanolamide concentrations. These data confirm that endocannabinoids and endocannabinoid-related compounds are involved in food-related reward and suggest a dysregulation of their physiology in AN. This trial was registered at ISRCTN.org as ISRCTN64683774. © 2015 American Society for Nutrition.

DNA typing of HLA-A, -C, -B, AND -DRB1 in the children with autism in the Republic of Macedonia.

PubMed

Trajkovski, V; Spiroski, M

2015-01-01

In the present study, we report the first DNA analysis of HLA class I and class II alleles in Macedonian autistic subjects. We have analyzed the HLA-A, -C, -B, DRB1 genotypes of 35 autistic patients, and 98 healthy unrelated Macedonians (control group). HLA DNA typing of class I genes was performed using a Reverse Line Strip method (RLS), and the Sequencing Based Typing method (SBT) was used for typing of class II genes. In the autistic subjects for HLA-A locus 14 alleles have been identified with 2 being predominant *02 (25.7 %), and *24 (18.6 %). Among the 11 identified HLA-C alleles, 3 were predominant such as *12 (20.0 %), *07 (17.1 %), and *03 (12.9 %). Among the 18 identified HLA-B alleles, 2 were predominant: *51 (18.6 %), and *18 (11.4 %). For HLA-DRB1 locus, 10 alleles have been identified with 2 of them predominant such as: *11 (21.4 %), and *01 (14.3 %). The allele and haplotype frequencies in the patients group were compared to those of 98 control subjects. Our results showed significantly increased frequencies of HLA-C*03 (OR = 2.74*; χ2 = 4.68; p = 0.03), and HLA-DRB1*01 (OR = 3.10*; χ2 = 6.26; p = 0.012) alleles in autistic patients when compared to the controls. The most frequent haplotype frequencies in autistic sample were A*11-C*12-B*52-DRB1*15 (2.9 %), A*24-C*03-B*55-DRB1*16 (2.9 %), and A*24-C*03-B*55-DRB1*16 (2.9 %), but they were not statistically significant when compared to the control group. None of our patients carried allele or haplotype, which were protective in our population. Hardy-Weinberg equilibrium in autistic group showed that HLA-A (p < 0.03), HLA-C (p < 0.04), and HLA-DRB1 (p < 0.002) loci were in linkage disequilibria. In the control group, we found only for the HLA-DRB1 locus linkage disequilibrium (p < 0.002). Our results demonstrated the association of HLA-C*03 and HLA-DRB1*01 alleles with Macedonian autistic patients (Tab. 7, Ref. 37).

Genetic influences on free and cued recall in long-term memory tasks.

PubMed

Volk, Heather E; McDermott, Kathleen B; Roediger, Henry L; Todd, Richard D

2006-10-01

Long-term memory (LTM) problems are associated with many psychiatric and neurological illnesses and are commonly measured using free and cued recall tasks. Although LTM has been linked with biologic mechanisms, the etiology of distinct LTM tasks is unknown. We studied LTM in 95 healthy female twin pairs identified through birth records in the state of Missouri. Performance on tasks of free recall of unrelated words, free and cued recall of categorized words, and the vocabulary section of the Wechsler Adult Intelligence Scale (WAIS-R) were examined using structural equation modeling. Additive genetic and unique environmental factors influenced LTM and intelligence. Free recall of unrelated and categorized words, and cued recall of categorized words, were moderately heritable (55%, 38%, and 37%). WAIS-R vocabulary score was highly heritable (77%). Controlling for verbal intelligence in multivariate analyses of recall, two components of genetic influence on LTM were found; one for all three recall scores and one for free and cued categorized word recall. Recall of unrelated and categorized words is influenced by different genetic and environmental factors indicating heterogeneity in LTM. Verbal intelligence is etiologically different from LTM indicating that these two abilities utilize different brain functions.

A comprehensive screening program for β-thalassemia and other hemoglobinopathies in the Hooghly District of West Bengal, India, dealing with 21 137 cases.

PubMed

Bhattacharyya, Kallol Kumar; Chatterjee, Tridip; Mondal, Ujjalendu Bikash

2016-11-01

We here present a report of population screening programs (January 2012-December 2015) conducted by the Thalassemia Control Unit, Imambara Sadar Hospital, Chinsurah, Hooghly in the Hooghly District of West Bengal, India for prevention of thalassemia. We screened β-thalassemia (β-thal) heterozygotes and homozygotes, and Hb E (HBB: c.79G > A)-β-thal compound heterozygotes. Among 21 137 cases, we found 1968 heterozygotes and 192 homozygotes or compound heterozygotes. Results were evaluated with standard hematological analyses including red cell indices, hemoglobin (Hb) typing and quantification. The participants of the screening program were divided into six groups (children, pre-marriage cases, post-marital cases, family members of affected individuals, family members of carriers and pregnant women). While considering the average frequency of carriers, many reports recorded both related individuals (family members of trait and affected individuals) as well as unrelated individuals such as school children and pregnant women. These would have to be considered separately and only the unrelated individuals taken to estimate carrier frequencies in this article that would give more realistic data on carrier frequency of unrelated individuals.

The globe and orbit in Laron syndrome.

PubMed

Kornreich, L; Konen, O; Lilos, P; Laron, Z

2011-09-01

Patients with LS have an inborn growth hormone resistance, resulting in failure to generate IGF-1. The purpose of this study was to evaluate the size of the eye and orbit in LS. We retrospectively reviewed the MR imaging of the brain in 9 patients with LS for the following parameters: axial diameter of the globe, interzygomatic distance, perpendicular distance from the interzygomatic line to margins of the globe, medial-to-lateral diameter of the orbit at the anterior orbital rim, distance from the anterior orbital rim to the anterior globe, maximal distance between the medial walls of the orbits, lateral orbital wall angle, lateral orbital wall length, and mediolateral thickness of the intraorbital fat in the most cranial image of the orbit. All measurements were made bilaterally. Twenty patients referred for MR imaging for unrelated reasons served as control subjects. Compared with the control group, the patients with LS had a significantly smaller maximal globe diameter and shallower but wider orbits due to a shorter lateral wall, a smaller medial distance between the orbits, and a larger angle of the orbit. The ratio between the most anterior orbital diameter and the globe was greater than that in controls. The position of the globe was more anterior in relation to the interzygomatic line. Shallow and wide orbits and small globes relative to orbital size are seen in LS and may be secondary to IGF-1 deficiency.

Association of the proprotein convertase subtilisin/kexin-type 2 (PCSK2) gene with type 2 diabetes in an African American population

PubMed Central

Leak, Tennille S.; Keene, Keith L.; Langefeld, Carl D.; Gallagher, Carla J.; Mychaleckyj, Josyf C.; Freedman, Barry I.; Bowden, Donald W.; Rich, Stephen S.; Sale, Michèle M.

2009-01-01

In a genome-wide scan for type 2 diabetes (T2DM) in African American (AA) families, ordered subsets analysis (OSA) provided evidence for linkage to chromosome 20p in a subset with later age at diagnosis (max. LOD 2.57, P = 0.008). The proprotein convertase subtilisin/kexin-type 2 (PCSK2) gene is within the LOD-1 interval of this linkage peak. Twenty-nine single nucleotide polymorphisms (SNPs) were genotyped across this gene in 380 unrelated AA individuals with T2DM and end-stage renal disease (T2DM-ESRD), 278 AA controls, 96 European Americans (EA) and 120 Yoruba Nigerian (YRI) controls. In addition, 22 ancestry-informative markers (AIMs) were genotyped in all AA subjects, 120 YRI, and 96 EA controls. ADMIXMAP was used to model the distributions of admixture and generate score tests of allelic and haplotypic association. Association with T2DM was observed among 4 SNPs: rs2021785 (admixture-adjusted Pa = 0.00014), rs1609659 (Pa = 0.028), rs4814597 (Pa = 0.039) and rs2269023 (Pa = 0.043). None of the PCSK2 SNPs were associated with age at T2DM diagnosis. A variant in the PCKS2 gene, rs2021785, appears to play a role in susceptibility to T2DM in this AA population. PMID:17618154

In utero exposure to female hormones and germ cell tumors in children.

PubMed

Shankar, Sadhna; Davies, Stella; Giller, Roger; Krailo, Mark; Davis, Mary; Gardner, Kathleen; Cai, Hui; Robison, Leslie; Shu, Xiao-Ou

2006-03-01

Maternal exposure to exogenous female hormones during pregnancy has been implicated as a risk factor for malignant germ cell tumors (GCTs) in the offspring in some epidemiologic studies of testicular and ovarian carcinoma in adults. From 1996 to 2002, 278 children younger than 15 years of age with malignant GCTs and 423 healthy controls, frequency-matched for geographic location, age, and sex were enrolled in a case-control study to investigate whether in utero exposure to female hormones is associated with the risk of malignant GCT in children. Cases were recruited from 84 institutions in the U.S. and controls were enrolled through random digit dialing. Information was obtained through telephone interview with the biological mothers of the subjects and through blinded review of the mothers' medical records. Neither self-reported (odds ratio [OR] = 1.15; 95% confidence interval [CI], 0.63, 2.12) nor medical chart based (OR = 1.14; 95% CI, 0.75, 1.73) maternal exposure to exogenous female hormones was related to malignant GCT risk. Pregnancy-related conditions that may have altered serum levels of circulating female hormones were also unrelated to the risk of GCT in the offspring. This study failed to provide strong evidence to support the hypothesis that maternal exposure to exogenous female hormones during pregnancy increases the risk of GCT in the offspring.

Relationship between cerebral blood flow and blood pressure in long-term heart transplant recipients.

PubMed

Smirl, Jonathan D; Haykowsky, Mark J; Nelson, Michael D; Tzeng, Yu-Chieh; Marsden, Katelyn R; Jones, Helen; Ainslie, Philip N

2014-12-01

Heart transplant recipients are at an increased risk for cerebral hemorrhage and ischemic stroke; yet, the exact mechanism for this derangement remains unclear. We hypothesized that alterations in cerebrovascular regulation is principally involved. To test this hypothesis, we studied cerebral pressure-flow dynamics in 8 clinically stable male heart transplant recipients (62±8 years of age and 9±7 years post transplant, mean±SD), 9 male age-matched controls (63±8 years), and 10 male donor controls (27±5 years). To increase blood pressure variability and improve assessment of the pressure-flow dynamics, subjects performed squat-stand maneuvers at 0.05 and 0.10 Hz. Beat-to-beat blood pressure, middle cerebral artery velocity, and end-tidal carbon dioxide were continuously measured during 5 minutes of seated rest and throughout the squat-stand maneuvers. Cardiac baroreceptor sensitivity gain and cerebral pressure-flow responses were assessed with linear transfer function analysis. Heart transplant recipients had reductions in R-R interval power and baroreceptor sensitivity low frequency gain (P<0.01) compared with both control groups; however, these changes were unrelated to transfer function metrics. Thus, in contrast to our hypothesis, the increased risk of cerebrovascular complication after heart transplantation does not seem to be related to alterations in cerebral pressure-flow dynamics. Future research is, therefore, warranted. © 2014 American Heart Association, Inc.

Overexpression of MMP-9 and its inhibitors in blood mononuclear cells after myocardial infarction--is it associated with depressive symptomatology?

PubMed

Jönsson, Simon; Lundberg, Anna K; Jonasson, Lena

2014-01-01

Matrix metalloproteinase (MMP)-9 may play a central role in the development and progression of atherosclerosis. Emerging evidence also indicates an association between MMP-9 and depressive symptomatology. Here, we investigated whether expression of MMP-9 and its inhibitors in blood mononuclear cells and plasma were related to depressive symptoms in patients with a recent myocardial infarction (MI). Blood sampling was performed between 6 and 18 months after MI in 57 patients. Forty-one clinically healthy subjects were included as controls. Gene expression of MMP-9 and its main tissue inhibitors TIMP-1 and -2 were analyzed in freshly isolated or cultured blood mononuclear cells. Corresponding protein levels were assessed in cell supernatants and plasma. In post-MI patients, mRNA levels of MMP-9 and TIMP-1 and -2 were significantly higher than in controls while protein levels in cell supernatants and plasma did not differ between groups. The Center for Epidemiological Studies - Depression (CES-D) scale was used to assess depressive symptomatology. Repeated assessments during the first 18 months after MI showed significantly higher CES-D scores in patients compared with controls. However, there were no relationships between depressive mood and any of the measurements of MMP-9 or TIMPs. Our findings indicate that overexpression of MMP-9 and TIMPs in blood mononuclear cells and elevated depressive symptoms represent two unrelated phenomena after MI.

Time discounting and time preference in animals: A critical review.

PubMed

Hayden, Benjamin Y

2016-02-01

Animals are an important model for studies of impulsivity and self-control. Many studies have made use of the intertemporal choice task, which pits small rewards available sooner against larger rewards available later (typically several seconds), repeated over many trials. Preference for the sooner reward is often taken to indicate impulsivity and/or a failure of self-control. This review shows that very little evidence supports this assumption; on the contrary, ostensible discounting behavior may reflect a boundedly rational but not necessarily impulsive reward-maximizing strategy. Specifically, animals may discount weakly, or even adopt a long-term rate-maximizing strategy, but fail to fully incorporate postreward delays into their choices. This failure may reflect learning biases. Consequently, tasks that measure animal discounting may greatly overestimate the true discounting and may be confounded by processes unrelated to time preferences. If so, animals may be much more patient than is widely believed; human and animal intertemporal choices may reflect unrelated mental operations; and the shared hyperbolic shape of the human and animal discount curves, which is used to justify cross-species comparisons, may be coincidental. The discussion concludes with a consideration of alternative ways to measure self-control in animals.

Parkinson Disease: Treating Symptoms Unrelated to Muscle Movement

MedlinePlus

... Evidence-based Guideline for PATIENTS and their FAMILIES PARKINSON DISEASE: TREATING SYMPTOMS UNRELATED TO MUSCLE MOVEMENT This fact sheet may help you understand which therapies help Parkinson disease (PD) symptoms unrelated to muscle movement. Neurologists from ...

Reducation of Anxiety in Children Facing Hospitalization and Surgery by Use of Filmed Modeling

ERIC Educational Resources Information Center

Melamed, Barbara G.; Siegel, Lawrence J.

1975-01-01

A group of children (N=60) about to undergo elective surgery for hernias, tonsillectomies, or urinary-genital tract difficulties were shown on hospital admission either a relevant peer modeling film of a child being hospitalized and receiving surgery or an unrelated control film. (Author)

The Relations Among Inhibition and Interference Control Functions: A Latent-Variable Analysis

ERIC Educational Resources Information Center

Friedman, Naomi P.; Miyake, Akira

2004-01-01

This study used data from 220 adults to examine the relations among 3 inhibition-related functions. Confirmatory factor analysis suggested that Prepotent Response Inhibition and Resistance to Distractor Interference were closely related, but both were unrelated to Resistance to Proactive Interference. Structural equation modeling, which combined…

Anger, Violence, and Academic Performance: A Study of Troubled Minority Youth.

ERIC Educational Resources Information Center

Fleming, Jacqueline; Barner, Celious III; Hudson, Betsy; Rosignon-Carmouche, Lee A.

2000-01-01

Examined the relationship between anger, violence, and academic performance among troubled adolescents participating in a risk reduction intervention that stressed emotional confrontation and behavior change support. Surveys indicated that anger management was unrelated to violence or academic performance. Loss of control over time, concentration,…

Daydreaming Style Moderates the Relation between Working Memory and Mind Wandering: Integrating Two Hypotheses

ERIC Educational Resources Information Center

Marcusson-Clavertz, David; Cardeña, Etzel; Terhune, Devin Blair

2016-01-01

Mind wandering--mentation unrelated to one's current activity and surroundings--is a ubiquitous phenomenon, but seemingly competing ideas have been proposed regarding its relation to executive cognitive processes. The control-failure hypothesis postulates that executive processes prevent mind wandering, whereas the global availability hypothesis…

Adolescent Drinking Behaviour and the Role of Family Life: A Scottish Perspective.

ERIC Educational Resources Information Center

Shucksmith, Janet; Glendinning, Anthony; Hendry, Leo

1997-01-01

Explores young people's alcohol consumption with respect to their families' social position and patterns of support and control by parents. Longitudinal analysis of over 600 participants indicate that family structure influenced young persons' alcohol use, but drinking behavior was unrelated to the families' socioeconomic circumstances. Other…

Family Help and Homework Management Reported by Middle School Students.

ERIC Educational Resources Information Center

Xu, Jianzhong; Corno, Lyn

2003-01-01

This study drew on survey data from 121 urban middle school students to define features of homework management. Findings indicated that arranging the environment and controlling emotions related systematically to family help with homework. Homework management indices were unrelated to standardized achievement test scores. Findings generated…

76 FR 11075 - Schedules of Controlled Substances: Temporary Placement of Five Synthetic Cannabinoids Into...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-03-01

... of Abuse A ``cannabinoid'' is a class of chemical compounds in the marijuana plant that are... constituent of marijuana. ``Synthetic cannabinoids'' are a large family of chemically unrelated structures functionally (biologically) similar to THC, the active principle of marijuana. Two of the five synthetic...

Unique β-Glucuronidase Locus in Gut Microbiomes of Crohn's Disease Patients and Unaffected First-Degree Relatives.

PubMed

Gloux, Karine; Anba-Mondoloni, Jamila

2016-01-01

Crohn's disease, an incurable chronic inflammatory bowel disease, has been attributed to both genetic predisposition and environmental factors. A dysbiosis of the gut microbiota, observed in numerous patients but also in at least one hundred unaffected first-degree relatives, was proposed to have a causal role. Gut microbiota β-D-glucuronidases (EC 3.2.1.33) hydrolyse β-D-glucuronate from glucuronidated compounds. They include a GUS group, that is homologous to the Escherichia coli GusA, and a BG group, that is homologous to metagenomically identified H11G11 BG and has unidentified natural substrates. H11G11 BG is part of the functional core of the human gut microbiota whereas GusA, known to regenerate various toxic products, is variably found in human subjects. We investigated potential risk markers for Crohn's disease using DNA-sequence-based exploration of the β-D-glucuronidase loci (GUS or Firmicute H11G11-BG and the respective co-encoded glucuronide transporters). Crohn's disease-related microbiomes revealed a higher frequency of a C7D2 glucuronide transporter (12/13) compared to unrelated healthy subjects (8/32). This transporter was in synteny with the potential harmful GUS β-D-glucuronidase as only observed in a Eubacterium eligens plasmid. A conserved NH2-terminal sequence in the transporter (FGDFGND motif) was found in 83% of the disease-related subjects and only in 12% of controls. We propose a microbiota-pathology hypothesis in which the presence of this unique β-glucuronidase locus may contribute to an increase risk for Crohn's disease.

Aging Ebbs the Flow of Thought: Adult Age Differences in Mind Wandering, Executive Control, and Self-Evaluation

PubMed Central

McVay, Jennifer C.; Meier, Matthew E.; Touron, Dayna R.; Kane, Michael J.

2013-01-01

Two experiments examined the relations among adult aging, mind wandering, and executive-task performance, following from surprising laboratory findings that older adults report fewer task-unrelated thoughts (TUTs) than do younger adults (e.g., Giambra, 1989; Jackson & Balota, 2011). Because older adults may experience more ability- and performance-related worry during cognitive tasks in the laboratory, and because these evaluative thoughts (known as task-related interference, “TRI”) might be sometimes misclassified by subjects as task-related, we asked subjects to distinguish task-related thoughts from TRI and TUTs when probed during ongoing tasks. In Experiment 1, younger and older adults completed either a go/no-go or a vigilance version of a sustained attention to response task (SART). Older adults reported more TRI and fewer TUTs than did younger adults while also performing more accurately. In Experiment 2, subjects completed either a 1- or 2-back version of the n-back task. Older adults again reported more TRI and fewer TUTs than younger adults in both versions, while performing better than younger adults in the 1-back and worse in the 2-back. Across experiments, older adults’ reduced TUT rates were independent of performance relative to younger adults. And, although older adults consistently reported more TRI and less mind wandering than did younger adults, overall they reported more on-task thoughts. TRI cannot, therefore, account completely for prior reports of decreasing TUTs with aging. We discuss the implications of these results for various theoretical approaches to mind-wandering. PMID:23261422

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

PubMed Central

Deenick, Elissa K.; Niemela, Julie E.; Avery, Danielle T.; Schickel, Jean-Nicolas; Tran, Dat Q.; Stoddard, Jennifer; Zhang, Yu; Frucht, David M.; Dumitriu, Bogdan; Scheinberg, Phillip; Folio, Les R.; Frein, Cathleen A.; Price, Susan; Koh, Christopher; Heller, Theo; Seroogy, Christine M.; Huttenlocher, Anna; Rao, V. Koneti; Su, Helen C.; Kleiner, David; Notarangelo, Luigi D.; Rampertaap, Yajesh; Olivier, Kenneth N.; McElwee, Joshua; Hughes, Jason; Pittaluga, Stefania; Oliveira, Joao B.; Meffre, Eric; Fleisher, Thomas A.; Holland, Steven M.; Lenardo, Michael J.; Tangye, Stuart G.; Uzel, Gulbu

2015-01-01

Cytotoxic T lymphocyte antigen–4 (CTLA-4) is an inhibitory receptor found on immune cells. The consequences of mutations in CTLA4 in humans are unknown. We identified germline heterozygous mutations in CTLA4 in subjects with severe immune dysregulation from four unrelated families. Whereas Ctla4 heterozygous mice have no obvious phenotype, human CTLA4 haploinsufficiency caused dysregulation of FoxP3+ regulatory T (Treg) cells, hyperactivation of effector T cells, and lymphocytic infiltration of target organs. Patients also exhibited progressive loss of circulating B cells, associated with an increase of predominantly autoreactive CD21lo B cells and accumulation of B cells in nonlymphoid organs. Inherited human CTLA4 haploinsufficiency demonstrates a critical quantitative role for CTLA-4 in governing T and B lymphocyte homeostasis. PMID:25213377

Contribution of SHANK3 Mutations to Autism Spectrum Disorder

PubMed Central

Moessner, Rainald ; Marshall, Christian R. ; Sutcliffe, James S. ; Skaug, Jennifer ; Pinto, Dalila ; Vincent, John ; Zwaigenbaum, Lonnie ; Fernandez, Bridget ; Roberts, Wendy ; Szatmari, Peter ; Scherer, Stephen W. 

2007-01-01

Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described in subjects with an autism spectrum disorder (ASD). To assess the quantitative contribution of SHANK3 to the pathogenesis of autism, we determined the frequency of DNA sequence and copy-number variants in this gene in 400 ASD-affected subjects ascertained in Canada. One de novo mutation and two gene deletions were discovered, indicating a contribution of 0.75% in this cohort. One additional SHANK3 deletion was characterized in two ASD-affected siblings from another collection, which brings the total number of published mutations in unrelated ASD-affected families to seven. The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing. PMID:17999366

Measuring the glycemic index of foods: interlaboratory study.

PubMed

Wolever, Thomas M S; Brand-Miller, Jennie C; Abernethy, John; Astrup, Arne; Atkinson, Fiona; Axelsen, Mette; Björck, Inger; Brighenti, Furio; Brown, Rachel; Brynes, Audrey; Casiraghi, M Cristina; Cazaubiel, Murielle; Dahlqvist, Linda; Delport, Elizabeth; Denyer, Gareth S; Erba, Daniela; Frost, Gary; Granfeldt, Yvonne; Hampton, Shelagh; Hart, Valerie A; Hätönen, Katja A; Henry, C Jeya; Hertzler, Steve; Hull, Sarah; Jerling, Johann; Johnston, Kelly L; Lightowler, Helen; Mann, Neil; Morgan, Linda; Panlasigui, Leonora N; Pelkman, Christine; Perry, Tracy; Pfeiffer, Andreas F H; Pieters, Marlien; Ramdath, D Dan; Ramsingh, Rayna T; Robert, S Daniel; Robinson, Carol; Sarkkinen, Essi; Scazzina, Francesca; Sison, Dave Clark D; Sloth, Birgitte; Staniforth, Jane; Tapola, Niina; Valsta, Liisa M; Verkooijen, Inge; Weickert, Martin O; Weseler, Antje R; Wilkie, Paul; Zhang, Jian

2008-01-01

Many laboratories offer glycemic index (GI) services. We assessed the performance of the method used to measure GI. The GI of cheese-puffs and fruit-leather (centrally provided) was measured in 28 laboratories (n=311 subjects) by using the FAO/WHO method. The laboratories reported the results of their calculations and sent the raw data for recalculation centrally. Values for the incremental area under the curve (AUC) reported by 54% of the laboratories differed from central calculations. Because of this and other differences in data analysis, 19% of reported food GI values differed by >5 units from those calculated centrally. GI values in individual subjects were unrelated to age, sex, ethnicity, body mass index, or AUC but were negatively related to within-individual variation (P=0.033) expressed as the CV of the AUC for repeated reference food tests (refCV). The between-laboratory GI values (mean+/-SD) for cheese-puffs and fruit-leather were 74.3+/-10.5 and 33.2+/-7.2, respectively. The mean laboratory GI was related to refCV (P=0.003) and the type of restrictions on alcohol consumption before the test (P=0.006, r2=0.509 for model). The within-laboratory SD of GI was related to refCV (P<0.001), the glucose analysis method (P=0.010), whether glucose measures were duplicated (P=0.008), and restrictions on dinner the night before (P=0.013, r2=0.810 for model). The between-laboratory SD of the GI values is approximately 9. Standardized data analysis and low within-subject variation (refCV<30%) are required for accuracy. The results suggest that common misconceptions exist about which factors do and do not need to be controlled to improve precision. Controlled studies and cost-benefit analyses are needed to optimize GI methodology. The trial was registered at clinicaltrials.gov as NCT00260858.

Effects of Inhaled Fluticasone on Upper Airway during Sleep and Wakefulness in Asthma: A Pilot Study

PubMed Central

Teodorescu, Mihaela; Xie, Ailiang; Sorkness, Christine A.; Robbins, JoAnne; Reeder, Scott; Gong, Yuanshen; Fedie, Jessica E.; Sexton, Ann; Miller, Barb; Huard, Tiffany; Hind, Jaqueline; Bioty, Nora; Peterson, Emily; Kunselman, Susan J.; Chinchilli, Vernon M.; Soler, Xavier; Ramsdell, Joe; Loredo, Jose; Israel, Elliott; Eckert, Danny J.; Malhotra, Atul

2014-01-01

Study Objective: Obstructive sleep apnea is prevalent among people with asthma, but underlying mechanisms remain unknown. Inhaled corticosteroids may contribute. We tested the effects of orally inhaled fluticasone propionate (FP) on upper airway (UAW) during sleep and wakefulness. Study design: 16-week single-arm study. Participants: 18 (14 females, mean [ ± SD] age 26 ± 6 years) corticosteroid-naïve subjects with mild asthma (FEV1 89 ± 8% predicted). Interventions: High dose (1,760 mcg/day) inhaled FP. Measurements: (1) UAW collapsibility (passive critical closing pressure [Pcrit]); (2) tongue strength (maximum isometric pressure—Pmax, in KPa) and endurance—time (in seconds) able to maintain 50% Pmax across 3 trials (Ttot)—at anterior and posterior locations; (3) fat fraction and volume around UAW, measured by magnetic resonance imaging in three subjects. Results: Pcrit overall improved (became more negative) (mean ± SE) (-8.2 ± 1.1 vs. -12.2 ± 2.2 cm H2O, p = 0.04); the response was dependent upon baseline characteristics, with older, male gender, and worse asthma control predicting Pcrit deterioration (less negative). Overall, Pmax increased (anterior p = 0.02; posterior p = 0.002), but Ttot generally subsided (anterior p = 0.0007; posterior p = 0.06), unrelated to Pcrit response. In subjects studied with MRI, fat fraction and volume increased by 20.6% and 15.4%, respectively, without Pcrit changes, while asthma control appeared improved. Conclusions: In this study of young, predominantly female, otherwise healthy subjects with well-controlled asthma and stiff upper airways, 16-week high dose FP treatment elicited Pcrit changes which may be dependent upon baseline characteristics, and determined by synchronous and reciprocally counteracting local and lower airway effects. The long-term implications of these changes on sleep disordered breathing severity remain to be determined. Citation: Teodorescu M; Xie A; A. Sorkness CA; Robbins J; Reeder S; Gong Y; Fedie JE; Sexton A; Miller B; Huard T; Hind J; Bioty N; Peterson E; Kunselman SJ; Chinchilli VM; Soler X; Ramsdell J; Loredo J; Israel E; Eckert DJ; Malhotra A. Effects of inhaled fluticasone on upper airway during sleep and wakefulness in asthma: a pilot study. J Clin Sleep Med 2014;10(2):183-193. PMID:24533002

Tinnitus, Anxiety, Depression and Substance Abuse in Rock Musicians a Norwegian Survey.

PubMed

Stormer, Carl Christian Lein; Sorlie, Tore; Stenklev, Niels Christian

2017-06-01

Rock musicians are known to have an increased prevalence of hearing loss and tinnitus. The aims of the present study were to examine the distribution of anxiety and depression symptoms among rock musicians with or without tinnitus and how these mental health indicators and internal locus of control influenced upon their tinnitus symptom concerns and the degree to which the tinnitus affected their lives. The study was a questionnairebased cross-sectional survey of subjects selected from a cohort of rock musicians. We recruited 111 active musicians from the Oslo region, and a control group of 40 non-musicians from the student population at the University of Tromso. Among the rock musicians 19.8% reported permanent tinnitus vs. 0% among the controls. Musicians more often reported anxiety symptoms than controls (35.1% vs. 17.5%), however this prevalence was not different in musicians with and without tinnitus. Tinnitus-affected musicians reported depressive symptoms, significantly more than controls (13.6% vs. 5%). Rock musicians consumed more alcohol than controls, but alcohol consumption was unrelated to severity of tinnitus. Drug abuse was not more prevalent in rock musicians than in controls. Duration of tinnitus, internal locus of control, sleep disturbance and anxiety were significant predictors of how affected and how concerned musicians were about their tinnitus. Rock musicians are at risk for the development of chronic tinnitus, and they have an increased prevalence of anxiety. There is an association between chronic tinnitus and depressive symptoms in rock musicians, but our results are ambiguous. Although rock musicians have a chronic exposure to noise, noise-induced hearing loss is not the sole causative agent for the development of tinnitus.

Genetic taste markers and preferences for vegetables and fruit of female breast care patients.

PubMed

Drewnowski, A; Henderson, S A; Hann, C S; Berg, W A; Ruffin, M T

2000-02-01

To explore links between genetic responsiveness to the bitter taste of 6-n-propylthiouracil (PROP) and self-reported preferences for vegetables and fruit of female breast care patients. PROP tasting was defined by detection thresholds and by perceived bitterness and hedonic ratings for PROP solutions. Nontasters, medium tasters, and supertasters were identified by their PROP thresholds and by the ratio of perceived bitterness of PROP to the perceived saltiness of sodium chloride solutions. Subjects rated preferences for vegetables and fruit using 9-point category scales. A clinical sample of 170 patients with newly diagnosed breast cancer and 156 cancer-free control subjects were recruited from the University of Michigan Breast Care Center. Principal components factor analysis, one-way analyses of variance, and Pearson correlations and chi 2 tests were used to analyze taste and food preference data. Genetic responsiveness to PROP was associated with lower acceptance of cruciferous and selected green and raw vegetables (P < .05). Women who reported disliking such foods were medium tasters or supertasters of PROP. Preference ratings for fruit were unrelated to PROP taster status. Women who are PROP tasters may be less likely to comply with dietary strategies for cancer prevention that emphasize consumption of cruciferous vegetables and bitter salad greens. Alternatively, PROP-sensitive women may seek to reduce bitter taste by adding fat, sugar, or salt.

Matrix metalloproteinase-9 functional promoter polymorphism 1562C>T increased risk of early-onset coronary artery disease.

PubMed

Saedi, Massoud; Vaisi-Raygani, Asad; Khaghani, Shahnaz; Shariftabrizi, Ahmad; Rezaie, M; Pasalar, Parvin; Rahimi, Zohreh; Pourmotabbed, Tayebeh

2012-01-01

The Matrix metalloproteinase-9 functional promoter polymorphism 1562C>T may be considered an important genetic determinant of early-onset coronary artery disease (ECAD). In this study, association between MMP-9 1562C>T allele with plasma MMP-9 activity, homocysteine and lipid-lipoproteins level and ECAD in Iranian subjects was investigated. This case-control study consisted of 53 ECAD patients (age < 55 years) and unrelated late-onsets CAD (age>70 years) who angiographically had at least 50% stenosis. MMP-9 1562C>T polymorphism was detected by PCRRFLP, plasma MMP-9 activity, serum lipid and homocysteine levels were determined by gelatin gel zymography, enzyme assay and by HPLC, respectively. The presence of MMP-9 1562C>T allele was found to be associated with ECAD (OR=3.2, P=0.001). The ECAD patients with MMP-9 1562C>T allele had higher MMP-9 activity (P=0.001), LDL-C (P=0.045), TC (P=0.02) and homocysteine (P=0.01) levels than the LCAD subjects. MMP-9 1562C>T allele is a risk factor for ECAD. The carriers of this allele have high levels of MMP-9 activity, LDL-C, TC and homocysteine (P=0.01), thus, are more likely to develop myocardial infarction and CAD at young age (less than 55 years).

Safety of probiotics and synbiotics in children under 18 years of age.

PubMed

van den Nieuwboer, M; Brummer, R J; Guarner, F; Morelli, L; Cabana, M; Claassen, E

2015-01-01

This study aimed to systematically evaluate safety of probiotics and synbiotics in children ageing 0-18 years. This study is the third and final part in a safety trilogy and an update is provided using the most recent available clinical data (2008-2013) by means of the Common Terminology Clinical Adverse Events (CTCAE version 4.0) classification. Safety aspects are represented and related to number of participants per probiotic strain/culture, study duration, dosage, clinical condition and selected afflictions. Analysis of 74 clinical studies indicated that probiotic and/or synbiotic administration in children is safe with regard to the specific evaluated strains, dosages and duration. The population of children include healthy, immune compromised and obese subjects, as well as subjects with intestinal disorders, infections and inflammatory disorders. This study revealed no major safety concerns, as the adverse events (AEs) were unrelated, or not suspected to be related, to the probiotic or synbiotic product. In general the study products were well tolerated. Overall, AEs occurred more frequent in the control arm compared to children receiving probiotics and/or synbiotics. Furthermore, the results indicate inadequate reporting and classification of AEs in the majority of the studies. In addition, generalizability of conclusions are greatly limited by the inconsistent, imprecise and potentially incomplete reporting as well as the variation in probiotic strains, dosages, administration regimes, study populations and reported outcomes.

Glucocorticoids enhance in vivo exposure-based therapy of spider phobia.

PubMed

Soravia, Leila M; Heinrichs, Markus; Winzeler, Livia; Fisler, Melanie; Schmitt, Wolfgang; Horn, Helge; Dierks, Thomas; Strik, Werner; Hofmann, Stefan G; de Quervain, Dominique J-F

2014-05-01

Preclinical and clinical studies indicate that the administration of glucocorticoids may promote fear extinction processes. In particular, it has been shown that glucocorticoids enhance virtual reality based exposure therapy of fear of heights. Here, we investigate whether glucocorticoids enhance the outcome of in vivo exposure-based group therapy of spider phobia. In a double blind, block-randomized, placebo-controlled, between-subject study design, 22 patients with specific phobia of spiders were treated with two sessions of in vivo exposure-based group therapy. Cortisol (20 mg) or placebo was orally administered 1 hr before each therapy session. Patients returned for a follow-up assessment one month after therapy. Exposure-based group therapy led to a significant decrease in phobic symptoms as assessed with the Fear of Spiders Questionnaire (FSQ) from pretreatment to immediate posttreatment and to follow-up. The administration of cortisol to exposure therapy resulted in increased salivary cortisol concentrations and a significantly greater reduction in fear of spiders (FSQ) as compared to placebo at follow-up, but not immediately posttreatment. Furthermore, cortisol-treated patients reported significantly less anxiety during standardized exposure to living spiders at follow-up than placebo-treated subjects. Notably, groups did not differ in phobia-unrelated state-anxiety before and after the exposure sessions and at follow-up. These findings indicate that adding cortisol to in vivo exposure-based group therapy of spider phobia enhances treatment outcome. © 2013 Wiley Periodicals, Inc.

A prospective clinical study of Epstein-Barr virus and host interactions during acute infectious mononucleosis.

PubMed

Balfour, Henry H; Holman, Carol J; Hokanson, Kristin M; Lelonek, Meghan M; Giesbrecht, Jill E; White, Dana R; Schmeling, David O; Webb, Chiu-Ho; Cavert, Winston; Wang, David H; Brundage, Richard C

2005-11-01

Characterizing virus-host interactions during self-limited infectious mononucleosis could explain how Epstein-Barr virus (EBV) replication is normally controlled and provide insight into why certain immunocompromised patients fail to contain it. University students had an average of 7 clinical and virologic evaluations during acute infectious mononucleosis. EBV was quantified in 697 samples of oral wash fluid, whole blood, peripheral blood mononuclear cells (PBMCs), and plasma by a real-time (TaqMan) polymerase chain reaction (qEBV) assay developed in our laboratory. Twenty of 25 subjects had serologically confirmed primary EBV infection. EBV was cleared from whole blood by a first-order process with a median half-life of 3 days, and its quantity was associated with severity of illness (r2=0.82). Oral shedding persisted at a median of >or=1x104 copies/mL for 32 weeks and was unrelated to severity of illness. Subjects with nonprimary EBV infection shed virus intermittently, and median quantities for all samples became undetectable within 4 weeks. Using a novel qEBV assay, we demonstrated that young adults with primary EBV infection rapidly cleared virus from blood but not from the oropharynx. High oral concentrations of EBV in asymptomatic persons who have resumed normal activities support the concept that infectious mononucleosis is most likely acquired by kissing.

Impact of donor-specific anti-HLA antibodies on graft failure and survival after reduced intensity conditioning-unrelated cord blood transplantation: a Eurocord, Société Francophone d'Histocompatibilité et d'Immunogénétique (SFHI) and Société Française de Greffe de Moelle et de Thérapie Cellulaire (SFGM-TC) analysis.

PubMed

Ruggeri, Annalisa; Rocha, Vanderson; Masson, Emeline; Labopin, Myriam; Cunha, Renato; Absi, Lena; Boudifa, Ali; Coeffic, Brigitte; Devys, Anne; De Matteis, Muriel; Dubois, Valérie; Hanau, Daniel; Hau, Françoise; Jollet, Isabelle; Masson, Dominique; Pedron, Beatrice; Perrier, Pascale; Picard, Christophe; Ramouneau-Pigot, Annie; Volt, Fernanda; Charron, Dominique; Gluckman, Eliane; Loiseau, Pascale

2013-07-01

Graft failure is a major complication after unrelated cord blood transplantation. Presence of HLA-antibodies before cord blood transplantation may impact graft failure. To analyze the effect of anti-HLA antibodies on unrelated cord blood transplantation outcomes, we analyzed 294 unrelated cord blood transplant recipients after reduced intensity conditioning regimen. The majority of the patients (82%) were transplanted for malignancies, 60% with double-unrelated cord blood transplant, 63% were HLA mismatched. Retrospectively, pre-unrelated cord blood transplant serum was tested for HLA-Ab using Luminex™ platform. Results were interpreted as mean fluorescence intensity (MFI) against donor-specific mismatch. Among 62 recipients (23%) who had anti-HLA antibodies before unrelated cord blood transplant, 14 patients had donor specific anti-HLA antibodies (DSA) (7 were donor-specific anti-HLA antibodies for single unrelated cord blood transplant and 7 for double unrelated cord blood transplant). Donor specific anti-HLA antibodies threshold ranged from 1620-17629 of mean fluorescence intensity (MFI). Cumulative incidence of Day-60 neutrophil engraftment was 76%: 44% for recipients with donor specific anti-HLA antibodies and 81% in those without donor specific anti-HLA antibodies (P=0.006). The cumulative incidence of 1-year transplant related mortality was 46% in patients with donor specific anti-HLA antibodies and 32% in those without antibodies (P=0.06). The presence of donor specific anti-HLA antibodies was associated with a trend for decreased survival rate (42% vs. 29%; P=0.07). Donor specific anti-HLA antibody in recipients of unrelated cord blood transplant is associated with graft failure and decreased survival. Patient's screening for donor specific anti-HLA antibodies before unrelated cord blood transplantation is recommended before choosing an HLA mismatched cord blood unit. Whenever possible it is important to avoid selecting a unit for which the patient has donor specific anti-HLA antibodies.

Intestinal bile acid malabsorption in cystic fibrosis.

PubMed

O'Brien, S; Mulcahy, H; Fenlon, H; O'Broin, A; Casey, M; Burke, A; FitzGerald, M X; Hegarty, J E

1993-08-01

This study aimed at examining the mechanisms participating in excessive faecal bile acid loss in cystic fibrosis. The study was designed to define the relation between faecal fat and faecal bile acid loss in patients with and without cystic fibrosis related liver disease; to assess terminal ileal bile acid absorption by a seven day whole body retention of selenium labelled homotaurocholic acid (SeHCAT); and to determine if small intestinal bacterial overgrowth contributes to faecal bile acid loss. The study population comprised 40 patients (27 men; median age 18 years) with cystic fibrosis (n = 8) and without (n = 32) liver disease and eight control subjects. Faecal bile acid excretion was significantly higher in cystic fibrosis patients without liver disease compared with control subjects (mean (SEM) 21.5 (2.4) and 7.3 (1.2) micromoles/kg/24 hours respectively; p < 0.01) and patients with liver disease (7.9 (1.3) micromoles/kg/24 hours; p < 0.01). No correlation was found between faecal fat (g fat/24 hours) and faecal bile acid (micromoles 24 hours) excretion. Eight (33%) of cystic fibrosis patients had seven day SeHCAT retention < 10% (normal retention > 20%). SeHCAT retention in cystic fibrosis patients with liver disease was comparable with control subjects (30.0 (SEM) 8.3% v 36.8 (5.9)%; p = NS) while SeHCAT retention in cystic fibrosis patients who did not have liver disease was significantly reduced (19.9 (3.8); p < 0.05). Although evidence of small bowel bacterial overgrowth was present in 40% of patients no relation was found between breath hydrogen excretion, faecal fat, and faecal bile acid loss. The results are consistent with the presence of an abnormality in terminal ideal function in patients with cystic fibrosis who do not have liver disease and that a defect in the ileal absorption of bile acids may be a contributory factor to excessive faecal bile acid loss. Faecal bile acid loss in cystic fibrosis is unrelated to the presence of intraluminal fat or intestinal bacterial overgrowth.

Intestinal bile acid malabsorption in cystic fibrosis.

PubMed Central

O'Brien, S; Mulcahy, H; Fenlon, H; O'Broin, A; Casey, M; Burke, A; FitzGerald, M X; Hegarty, J E

1993-01-01

This study aimed at examining the mechanisms participating in excessive faecal bile acid loss in cystic fibrosis. The study was designed to define the relation between faecal fat and faecal bile acid loss in patients with and without cystic fibrosis related liver disease; to assess terminal ileal bile acid absorption by a seven day whole body retention of selenium labelled homotaurocholic acid (SeHCAT); and to determine if small intestinal bacterial overgrowth contributes to faecal bile acid loss. The study population comprised 40 patients (27 men; median age 18 years) with cystic fibrosis (n = 8) and without (n = 32) liver disease and eight control subjects. Faecal bile acid excretion was significantly higher in cystic fibrosis patients without liver disease compared with control subjects (mean (SEM) 21.5 (2.4) and 7.3 (1.2) micromoles/kg/24 hours respectively; p < 0.01) and patients with liver disease (7.9 (1.3) micromoles/kg/24 hours; p < 0.01). No correlation was found between faecal fat (g fat/24 hours) and faecal bile acid (micromoles 24 hours) excretion. Eight (33%) of cystic fibrosis patients had seven day SeHCAT retention < 10% (normal retention > 20%). SeHCAT retention in cystic fibrosis patients with liver disease was comparable with control subjects (30.0 (SEM) 8.3% v 36.8 (5.9)%; p = NS) while SeHCAT retention in cystic fibrosis patients who did not have liver disease was significantly reduced (19.9 (3.8); p < 0.05). Although evidence of small bowel bacterial overgrowth was present in 40% of patients no relation was found between breath hydrogen excretion, faecal fat, and faecal bile acid loss. The results are consistent with the presence of an abnormality in terminal ideal function in patients with cystic fibrosis who do not have liver disease and that a defect in the ileal absorption of bile acids may be a contributory factor to excessive faecal bile acid loss. Faecal bile acid loss in cystic fibrosis is unrelated to the presence of intraluminal fat or intestinal bacterial overgrowth. PMID:8174969

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering

PubMed Central

Raza, M. Hashim; Mattera, Rafael; Morell, Robert; Sainz, Eduardo; Rahn, Rachel; Gutierrez, Joanne; Paris, Emily; Root, Jessica; Solomon, Beth; Brewer, Carmen; Basra, M. Asim Raza; Khan, Shaheen; Riazuddin, Sheikh; Braun, Allen; Bonifacino, Juan S.; Drayna, Dennis

2015-01-01

Stuttering is a common, highly heritable neurodevelopmental disorder characterized by deficits in the volitional control of speech. Whole-exome sequencing identified two heterozygous AP4E1 coding variants, c.1549G>A (p.Val517Ile) and c.2401G>A (p.Glu801Lys), that co-segregate with persistent developmental stuttering in a large Cameroonian family, and we observed the same two variants in unrelated Cameroonians with persistent stuttering. We found 23 other rare variants, including predicted loss-of-function variants, in AP4E1 in unrelated stuttering individuals in Cameroon, Pakistan, and North America. The rate of rare variants in AP4E1 was significantly higher in unrelated Pakistani and Cameroonian stuttering individuals than in population-matched control individuals, and coding variants in this gene are exceptionally rare in the general sub-Saharan West African, South Asian, and North American populations. Clinical examination of the Cameroonian family members failed to identify any symptoms previously reported in rare individuals carrying homozygous loss-of-function mutations in this gene. AP4E1 encodes the ε subunit of the heterotetrameric (ε-β4-μ4-σ4) AP-4 complex, involved in protein sorting at the trans-Golgi network. We found that the μ4 subunit of AP-4 interacts with NAGPA, an enzyme involved in the synthesis of the mannose 6-phosphate signal that targets acid hydrolases to the lysosome and the product of a gene previously associated with stuttering. These findings implicate deficits in intracellular trafficking in persistent stuttering. PMID:26544806

Genetic Association Study of KCNQ5 Polymorphisms with High Myopia.

PubMed

Liao, Xuan; Yap, Maurice K H; Leung, Kim Hung; Kao, Patrick Y P; Liu, Long Qian; Yip, Shea Ping

2017-01-01

Identification of genetic variations related to high myopia may advance our knowledge of the etiopathogenesis of refractive error. This study investigated the role of potassium channel gene (KCNQ5) polymorphisms in high myopia. We performed a case-control study of 1563 unrelated Han Chinese subjects (809 cases of high myopia and 754 emmetropic controls). Five tag single-nucleotide polymorphisms (SNPs) of KCNQ5 were genotyped, and association testing with high myopia was conducted using logistic regression analysis adjusted for sex and age to give P asym values, and multiple comparisons were corrected by permutation test to give P emp values. All five noncoding SNPs were associated with high myopia. The SNP rs7744813, previously shown to be associated with refractive error and myopia in two GWAS, showed an odds ratio of 0.75 (95% CI 0.63-0.90; P emp = 0.0058) for the minor allele. The top SNP rs9342979 showed an odds ratio of 0.75 (95% CI 0.64-0.89; P emp = 0.0045) for the minor allele. Both SNPs are located within enhancer histone marks and DNase-hypersensitive sites. Our data support the involvement of KCNQ5 gene polymorphisms in the genetic susceptibility to high myopia and further exploration of KCNQ5 as a risk factor for high myopia.

FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon Syndrome

PubMed Central

Lin, Ying; Liang, Xuanwei; Ai, Siming; Chen, Chuan; Liu, Xialin; Luo, Lixia; Ye, Shaobi; Li, Baoxin; Yang, Huasheng

2012-01-01

Purpose The purposed of this study was to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in one Chinese family with Crouzon syndrome and to characterize the related clinical features. Methods One family underwent complete ophthalmic examinations, and two patients were diagnosed with Crouzon syndrome. Genomic DNA was extracted from leukocytes of peripheral blood collected from the family and 100 unrelated control subjects from the same population. Exons 8 and 10 of FGFR2 were amplified by polymerase chain reaction (PCR) and directly sequenced. We performed ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination, Pentacam, Goldmann perimetry, and computed tomography (CT) of the skull. Results The two patients were affected with shallow orbits and ocular proptosis, accompanied by midface hypoplasia, craniosynostosis, and clinically normal hands and feet. A heterozygous FGFR2 missense mutation c.866A>C (Gln289Pro) in exon 8 was identified in the affected individuals, but not in any of the unaffected family members and the normal controls. Conclusions Although FGFR2 mutations and polymorphisms have been reported in various ethnic groups, especially in the area of osteology, we report, for the first time, the identification of one new FGFR2 mutation in Chinese patients with Crouzon syndrome. PMID:22355256

Unbuckling the Bible Belt: A State-Level Analysis of Religious Factors and Google Searches for Porn.

PubMed

Whitehead, Andrew L; Perry, Samuel L

2018-01-01

While the link between individual religious characteristics and pornography consumption is well established, relatively little research has considered how the wider religious context may influence pornography use. Exceptions in the literature to date have relied on relatively broad, subjective measures of religious commitment, largely ignoring issues of religious belonging, belief, or practice. This study moves the conversation forward by examining how a variety of state-level religious factors predict Google searches for the term porn, net of relevant sociodemog raphic and ideological controls. Our multivariate findings indicate that higher percentages of Evangelical Protestants, theists, and biblical literalists in a state predict higher frequencies of searching for porn, as do higher church attendance rates. Conversely, higher percentages of religiously unaffiliated persons in a state predict lower frequencies of searching for porn. Higher percentages of total religious adherents, Catholics, or mainline Protestants in a state are unrelated to searching for porn with controls in place. Contrary to recent research, our analyses also show that higher percentages of political conservatives in a state predicted lower frequencies of porn searches. Our findings support theories that more salient, traditional religious influences in a state may influence residents-whether religious or not-toward more covert sexual experiences.

I spy with my little eye - the detection of intentional contingency in early psychosis.

PubMed

Fett, Anne-Kathrin J; González Berdugo, Clara Isabel; Hanssen, Esther; Lemmers-Jansen, Imke; Shergill, Sukhi S; Krabbendam, Lydia

2015-01-01

Paranoid delusions have been associated with a tendency to over-attribute intentionality and contingency to others' actions and incidental events in individuals with chronic psychosis. However, this hyper-associative perception bias has not been investigated in the early illness stages of psychosis, during which it may play a particularly crucial role in the formation of symptoms. We used an experimental paradigm with 20 short film clips of simple animate and inanimate shapes that either moved in a contingent or non-contingent manner to investigate the perception of contingency in 38 adolescents with early psychosis and 93 healthy control adolescents. Participants rated the contingency between the shapes' movements on a scale from 0 to 10. The data were analysed with multilevel regression analyses to account for repeated measures within subjects. There were no significant differences between patients and controls; both perceived the contingency of the shapes' movements similarly across all conditions and patients' contingency perception was unrelated to their levels of paranoid delusions. Contingency perception was unimpaired in patients with early psychosis, suggesting that it might still be intact in the early illness stages. Future studies should set out to determine whether the early illness stages could offer a window for interventions that counteract the development of hyper-associative perceptions of contingency.

Genotype Phenotype Relationships in Neurofibromatosis 2

DTIC Science & Technology

2001-10-01

stop (t2187c). 200 unrelated individuals (90 with NF2, 24 controls with schwannomatosis , and 86 unaffected controls) were screened for this change and...Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis . Neurogenetics 2:101-108 (1999) Andrade A under the mentorship of Mia...LB, MacCollin M, Parry D, Kluwe L, Lynch J, Jones D, Gusella J. Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis

Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL [+-] P)

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

Shaw, D.; Field, L.; Ray, A.

1993-11-01

Chenevix-Trench et al. (1992) reported a significant difference between nonsyndromic cleft lip with or without cleft palate (CL [+-] P) cases and unrelated controls in the frequency of alleles at the retinoic acid receptor alpha (RARA) PstI RFLP located at 17q21.1. They also observed borderline significant (P = .055) differences between allele frequencies in subjects with cleft lip and palate (CL + P) compared with those with cleft lip only (CL). Retinoic acid (RA) is a known teratogen capable of producing cleft palate in rodents (Abbott and Birnbaum 1990). Chenevix-Tench et al. (1992) hypothesized that variation in susceptibility to themore » effects of RA in humans may result from alterations at the RARA locus. We have investigated association and linkage between CL [+-] P and a microsatellite marker (D17S579) located at 17q21 (Hall et al. 1992), selected for its proximity to RARA, in 14 extended multiplex families from rural West Bengal, India.« less

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

PubMed Central

Rivière, Jean-Baptiste; Mirzaa, Ghayda M.; O’Roak, Brian J.; Beddaoui, Margaret; Alcantara, Diana; Conway, Robert L.; St-Onge, Judith; Schwartzentruber, Jeremy A.; Gripp, Karen W.; Nikkel, Sarah M.; Worthylake, Thea; Sullivan, Christopher T.; Ward, Thomas R.; Butler, Hailly E.; Kramer, Nancy A.; Albrecht, Beate; Armour, Christine M.; Armstrong, Linlea; Caluseriu, Oana; Cytrynbaum, Cheryl; Drolet, Beth A.; Innes, A. Micheil; Lauzon, Julie L.; Lin, Angela E.; Mancini, Grazia M. S.; Meschino, Wendy S.; Reggin, James D.; Saggar, Anand K.; Lerman-Sagie, Tally; Uyanik, Gökhan; Weksberg, Rosanna; Zirn, Birgit; Beaulieu, Chandree L.; Majewski, Jacek; Bulman, Dennis E.; O’Driscoll, Mark; Shendure, Jay; Graham, John M.; Boycott, Kym M.; Dobyns, William B.

2012-01-01

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders associated with markedly enlarged brain size and other recognizable features1-5. We performed exome sequencing in three families with MCAP or MPPH and confirmed our initial observations in exomes from 7 MCAP and 174 control individuals, as well as in 40 additional megalencephaly subjects using a combination of Sanger sequencing, restriction-enzyme assays, and targeted deep sequencing. We identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol-3-kinase (PI3K)/AKT pathway. These include two mutations of AKT3, one recurrent mutation of PIK3R2 in 11 unrelated MPPH families, and 15 mostly postzygotic mutations of PIK3CA in 23 MCAP and one MPPH patients. Our data highlight the central role of PI3K/AKT signaling in vascular, limb and brain development, and emphasize the power of massively parallel sequencing in a challenging context of phenotypic and genetic heterogeneity combined with postzygotic mosaicism. PMID:22729224

The Relationship between Marital Status and Psychological Resilience in Chronic Pain.

PubMed

Wade, James B; Hart, Robert P; Wade, James H; Bajaj, Jasmohan S; Price, Donald D

2013-01-01

We examined the relationship between marital status and a 2-stage model of pain-related effect, consisting of pain unpleasantness and suffering. We studied 1914 chronic pain patients using multivariate analysis of covariance (MANCOVA) to clarify whether marital status was a determinant factor in the emotional or ideational suffering associated with chronic pain after controlling for pain sensation intensity, age, and ethnicity. Marital status was unrelated to immediate unpleasantness (P = 0.08). We found a strong association with emotional suffering (P < 0.0001) but not with negative illness beliefs (P = 0.44). Interestingly, widowed subjects experienced significantly less frustration, fear, and anger than all other groups (married, divorced, separated, or single). A final MANCOVA including sex as a covariate revealed that the emotional response to pain was the same for both widow and widower. Only those individuals whose spouse died experienced less emotional turmoil in the face of a condition threatening their lifestyle. These data suggest that after experiencing the death of a spouse, an individual may derive some "emotional inoculation" against future lifestyle threat.

Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity.

PubMed

Shastry, B S; Pendergast, S D; Hartzer, M K; Liu, X; Trese, M T

1997-05-01

Retinopathy of prematurity (ROP) is a retinal vascular disease occurring in infants with short gestational age and low birth weight and can lead to retinal detachment (ROP stages 4 and 5). X-linked familial exudative vitreoretinopathy is phenotypically similar to ROP and has been associated with mutations in the Norrie disease (ND) gene in some cases. To determine if similar mutations in the ND gene may play a role in the development of advanced ROP. Clinical examination and molecular genetic analysis were performed on 16 children, including 2 dizygotic and 1 monozygotic twin pairs, and their parents from 13 families. Sequencing of the amplified products revealed missense mutations (R121W and L108P) in the third exon of the ND gene in 4 patients. These mutations were not present in an unaffected premature twin, 2 children with regressed stage 3 ROP, the parents, or in 50 unrelated healthy control subjects. These findings suggest that mutations in the ND gene may play a role in the development of severe ROP in premature infants.

[Comparison of HbA1c, fructosamine and the main metabolic parameters in a non-insulin-dependent diabetic population].

PubMed

Magnati, G; Arsenio, L; Baroni, M C; Bodria, P; Bossi, S; Delsignore, R; Ippolito, L; Mineo, F; Strata, A

1990-01-01

Our objective was the checking of clinical data obtainable from the assay of some parameters in NID diabetic individuals. To this end, we studied 133 patients--57 males and 76 females, average age 74.36 +/- 1.01 years, 72.6% of which were above 65 years of age. The control population was subdivided as follows: 50 subjects, 26 F and 24 M; average age 71.25 +/- 1.32 years, with normal glucidic tolerance as assessed by OGTT. Current glycemia, average glycemia, fructosamine, glycosylated hemoglobin, triglycerides, LDL-cholesterol and apolipoprotein B were obviously much higher than normal in the individuals admitted to the study. A statistically significant correlation was found between average glycemia, glycosylated hemoglobin, LDL-cholesterol and blood triglycerides (p less than 0.05). No correlation was found between current glycemia, fructosamine and glycosylated hemoglobin. Similarly, serum fructosamine was unrelated to the parameters studied. In our study, fructosamine, glycosylated hemoglobin and current glycemia offered unrelatable data. Hence, in our opinion it is necessary to assay these three parameters contemporaneously for a reliable assessment of metabolic compensation.

Mendelian breeding units versus standard sampling strategies: Mitochondrial DNA variation in southwest Sardinia

PubMed Central

Sanna, Daria; Pala, Maria; Cossu, Piero; Dedola, Gian Luca; Melis, Sonia; Fresu, Giovanni; Morelli, Laura; Obinu, Domenica; Tonolo, Giancarlo; Secchi, Giannina; Triunfo, Riccardo; Lorenz, Joseph G.; Scheinfeldt, Laura; Torroni, Antonio; Robledo, Renato; Francalacci, Paolo

2011-01-01

We report a sampling strategy based on Mendelian Breeding Units (MBUs), representing an interbreeding group of individuals sharing a common gene pool. The identification of MBUs is crucial for case-control experimental design in association studies. The aim of this work was to evaluate the possible existence of bias in terms of genetic variability and haplogroup frequencies in the MBU sample, due to severe sample selection. In order to reach this goal, the MBU sampling strategy was compared to a standard selection of individuals according to their surname and place of birth. We analysed mitochondrial DNA variation (first hypervariable segment and coding region) in unrelated healthy subjects from two different areas of Sardinia: the area around the town of Cabras and the western Campidano area. No statistically significant differences were observed when the two sampling methods were compared, indicating that the stringent sample selection needed to establish a MBU does not alter original genetic variability and haplogroup distribution. Therefore, the MBU sampling strategy can be considered a useful tool in association studies of complex traits. PMID:21734814

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PubMed

Rivière, Jean-Baptiste; Mirzaa, Ghayda M; O'Roak, Brian J; Beddaoui, Margaret; Alcantara, Diana; Conway, Robert L; St-Onge, Judith; Schwartzentruber, Jeremy A; Gripp, Karen W; Nikkel, Sarah M; Worthylake, Thea; Sullivan, Christopher T; Ward, Thomas R; Butler, Hailly E; Kramer, Nancy A; Albrecht, Beate; Armour, Christine M; Armstrong, Linlea; Caluseriu, Oana; Cytrynbaum, Cheryl; Drolet, Beth A; Innes, A Micheil; Lauzon, Julie L; Lin, Angela E; Mancini, Grazia M S; Meschino, Wendy S; Reggin, James D; Saggar, Anand K; Lerman-Sagie, Tally; Uyanik, Gökhan; Weksberg, Rosanna; Zirn, Birgit; Beaulieu, Chandree L; Majewski, Jacek; Bulman, Dennis E; O'Driscoll, Mark; Shendure, Jay; Graham, John M; Boycott, Kym M; Dobyns, William B

2012-06-24

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders associated with markedly enlarged brain size and other recognizable features. We performed exome sequencing in 3 families with MCAP or MPPH, and our initial observations were confirmed in exomes from 7 individuals with MCAP and 174 control individuals, as well as in 40 additional subjects with megalencephaly, using a combination of Sanger sequencing, restriction enzyme assays and targeted deep sequencing. We identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway. These include 2 mutations in AKT3, 1 recurrent mutation in PIK3R2 in 11 unrelated families with MPPH and 15 mostly postzygotic mutations in PIK3CA in 23 individuals with MCAP and 1 with MPPH. Our data highlight the central role of PI3K-AKT signaling in vascular, limb and brain development and emphasize the power of massively parallel sequencing in a challenging context of phenotypic and genetic heterogeneity combined with postzygotic mosaicism.

The Relationships between Air Exposure, Negative Pressure and Hemolysis

PubMed Central

Pohlmann, Joshua R.; Toomasian, John M.; Hampton, Claire E.; Cook, Keith E.; Annich, Gail M.; Bartlett, Robert H.

2013-01-01

The purpose of this study was to describe the hemolytic effects of both negative pressure and an air-blood interface independently and in combination in an in-vitro static blood model. Samples of fresh ovine or human blood (5 mL) were subjected to a bubbling air interface (0–100 mL/min) or negative pressure (0–600 mmHg) separately, or in combination, for controlled periods of time, and analyzed for hemolysis. Neither negative pressure nor an air interface alone increased hemolysis. However, when air and negative pressure were combined, hemolysis increased as a function of negative pressure, the air interface, and time. Moreover, when blood samples were exposed to air prior to initiating the test, hemolysis was 4–5 times greater than samples not pre-exposed to air. When these experiments were repeated using freshly drawn human blood the same phenomena were observed, but the hemolysis was significantly higher than that observed in sheep blood. In this model, hemolysis is caused by combined air and negative pressure and is unrelated to either factor alone. PMID:19730004

Open label study to assess the safety of VM202 in subjects with amyotrophic lateral sclerosis.

PubMed

Sufit, Robert L; Ajroud-Driss, Senda; Casey, Patricia; Kessler, John A

2017-05-01

To assess safety and define efficacy measures of hepatocyte growth factor (HGF) DNA plasmid, VM202, administered by intramuscular injections in patients with amyotrophic lateral sclerosis (ALS). Eighteen participants were treated with VM202 administered in divided doses by injections alternating between the upper and lower limbs on d 0, 7, 14, and 21. Subjects were followed for nine months to evaluate possible adverse events. Functional outcome was assessed using the ALS Functional Rating Scale-Revised (ALSFRS-R) as well as by serially measuring muscle strength, muscle circumference, and forced vital capacity. Seventeen of 18 participants completed the study. All participants tolerated 64 mg of VM202 well with no serious adverse events (SAE) related to the drug. Twelve participants reported 26 mild or moderate injection site reactions. Three participants experienced five SAEs unrelated to VM202. One subject died from respiratory insufficiency secondary to ALS progression. Multiple intramuscular injection of VM202 into the limbs appears safe in ALS subjects. Future trials with retreatment after three months will determine whether VM202 treatment alters the long-term course of ALS.

Relationship between interpersonal sensitivity and leukocyte telomere length.

PubMed

Suzuki, Akihito; Matsumoto, Yoshihiko; Enokido, Masanori; Shirata, Toshinori; Goto, Kaoru; Otani, Koichi

2017-10-10

Telomeres are repetitive DNA sequences located at the ends of chromosomes, and telomere length represents a biological marker for cellular aging. Interpersonal sensitivity, excessive sensitivity to the behavior and feelings of others, is one of the vulnerable factors to depression. In the present study, we examined the effect of interpersonal sensitivity on telomere length in healthy subjects. The subjects were 159 unrelated healthy Japanese volunteers. Mean age ± SD (range) of the subjects was 42.3 ± 7.8 (30-61) years. Interpersonal sensitivity was assessed by the Japanese version of the Interpersonal Sensitivity Measure (IPSM). Leukocyte telomere length was determined by a quantitative real-time PCR method. Higher scores of the total IPSM were significantly (β = -0.163, p = 0.038) related to shorter telomere length. In the sub-scale analysis, higher scores of timidity were significantly (β = -0.220, p = 0.044) associated with shorter telomere length. The present study suggests that subjects with higher interpersonal sensitivity have shorter leukocyte telomere length, implying that interpersonal sensitivity has an impact on cellular aging.

Cytokine polymorphism in patients with migraine: some suggestive clues of migraine and inflammation.

PubMed

Yilmaz, Ibrahim Arda; Ozge, Aynur; Erdal, Mehmet Emin; Edgünlü, Tuba Gökdoğan; Cakmak, Sema Erol; Yalin, Osman Ozgür

2010-04-01

There are contrasting results obtained in migraineurs concerning the levels and the role of both pro-inflammatory and anti-inflammatory cytokines. In this study, the association of the occurrence and clinical characteristics of migraine with the polymorphisms of tumor necrosis factor alpha (TNF-alpha) -308 G/A (rs1800629), interleukin-1alpha (IL-1alpha) +4845 G/T (rs17561), IL-1beta+3953 C/T (rs1143634) and interleukin-1 receptor antagonist variable number tandem repeat (IL-1RA VNTR) genes were studied. We also investigated the genetic linkage between these genes. Sixty-seven patients with migraine without aura (MwoA) and 96 unrelated, age- and sex-matched migraine-free, healthy control subjects from the same geographic area were investigated. We observed significant differences in the genotypic distribution of the TNF-alpha-308 G/A and IL-1beta+3953 C/T polymorphism for migraineurs compared with controls (P = 0.004). Frequency of the TNF-alpha-308 GG genotype was higher in the control group than MwoA group (82.1% vs 55.2%). Differences in the distribution of the allele frequencies were also observed, being the TNF-alpha-308 G allele overrepresented in control group and TNF-alpha-308 A allele in MwoA group. In addition, there was a significant increase of the IL-1beta+3953 T allele in MwoA cases compared with controls (P = 0.004). In conclusion, the present results indicate the possible contribution of TNF-alpha and IL-1beta gene polymorphisms to migraine headache generation in MwoA patients.

Calmodulin Mutations Associated with Recurrent Cardiac Arrest in Infants

PubMed Central

Crotti, Lia; Johnson, Christopher N.; Graf, Elisabeth; De Ferrari, Gaetano M.; Cuneo, Bettina F.; Ovadia, Marc; Papagiannis, John; Feldkamp, Michael D.; Rathi, Subodh G.; Kunic, Jennifer D.; Pedrazzini, Matteo; Wieland, Thomas; Lichtner, Peter; Beckmann, Britt-Maria; Clark, Travis; Shaffer, Christian; Benson, D. Woodrow; Kääb, Stefan; Meitinger, Thomas; Strom, Tim M.; Chazin, Walter J.; Schwartz, Peter J.; George, Alfred L.

2013-01-01

Background Life-threatening disorders of heart rhythm may arise during infancy and can result in the sudden and tragic death of a child. We performed exome sequencing on two unrelated infants presenting with recurrent cardiac arrest to discover a genetic cause. Methods and Results We ascertained two unrelated infants (probands) with recurrent cardiac arrest and dramatically prolonged QTc interval who were both born to healthy parents. The two parent-child trios were investigated using exome sequencing to search for de novo genetic variants. We then performed follow-up candidate gene screening on an independent cohort of 82 subjects with congenital long-QT syndrome without an identified genetic cause. Biochemical studies were performed to determine the functional consequences of mutations discovered in two genes encoding calmodulin. We discovered three heterozygous de novo mutations in either CALM1 or CALM2, two of the three human genes encoding calmodulin, in the two probands and in two additional subjects with recurrent cardiac arrest. All mutation carriers were infants who exhibited life-threatening ventricular arrhythmias combined variably with epilepsy and delayed neurodevelopment. Mutations altered residues in or adjacent to critical calcium binding loops in the calmodulin carboxyl-terminal domain. Recombinant mutant calmodulins exhibited several fold reductions in calcium binding affinity. Conclusions Human calmodulin mutations disrupt calcium ion binding to the protein and are associated with a life-threatening condition in early infancy. Defects in calmodulin function will disrupt important calcium signaling events in heart affecting membrane ion channels, a plausible molecular mechanism for potentially deadly disturbances in heart rhythm during infancy. PMID:23388215

Making perceptual learning practical to improve visual functions.

PubMed

Polat, Uri

2009-10-01

Task-specific improvement in performance after training is well established. The finding that learning is stimulus-specific and does not transfer well between different stimuli, between stimulus locations in the visual field, or between the two eyes has been used to support the notion that neurons or assemblies of neurons are modified at the earliest stage of cortical processing. However, a debate regarding the proposed mechanism underlying perceptual learning is an ongoing issue. Nevertheless, generalization of a trained task to other functions is an important key, for both understanding the neural mechanisms and the practical value of the training. This manuscript describes a structured perceptual learning method that previously used (amblyopia, myopia) and a novel technique and results that were applied for presbyopia. In general, subjects were trained for contrast detection of Gabor targets under lateral masking conditions. Training improved contrast sensitivity and diminished the lateral suppression when it existed (amblyopia). The improvement was transferred to unrelated functions such as visual acuity. The new results of presbyopia show substantial improvement of the spatial and temporal contrast sensitivity, leading to improved processing speed of target detection as well as reaction time. Consequently, the subjects, who were able to eliminate the need for reading glasses, benefited. Thus, here we show that the transfer of functions indicates that the specificity of improvement in the trained task can be generalized by repetitive practice of target detection, covering a sufficient range of spatial frequencies and orientations, leading to an improvement in unrelated visual functions. Thus, perceptual learning can be a practical method to improve visual functions in people with impaired or blurred vision.

An Autologous Anti-Inflammatory Protein Solution Yielded a Favorable Safety Profile and Significant Pain Relief in an Open-Label Pilot Study of Patients with Osteoarthritis

PubMed Central

Hix, Jason; Klaassen, Mark; Foreman, Ryan; Cullen, Edith; Toler, Krista; King, William; Woodell-May, Jennifer

2017-01-01

Abstract Osteoarthritis (OA) is a progressive and degenerative disease, which may result in significant pain and decreased quality of life. Recent updates in our understanding of OA have demonstrated that it is a whole joint disease that has many similarities to an unhealed wound containing inflammatory cytokines. The nSTRIDE Autologous Protein Solution (APS) Kit is a medical device under development for the treatment of OA. The APS Kit processes a patient's own blood at the point of care to contain high concentrations of anti-inflammatory cytokines and anabolic growth factors. This study assessed the safety and treatment effects of a single intra-articular injection of APS. Eleven patients were enrolled in this study. Sufficient blood could not be drawn from one patient who was subsequently withdrawn, leaving 10 patients treated. Minor adverse events (AEs) were experienced by seven subjects (63.6%). There was one serious AE (diverticulitis) unrelated to the device or procedure. One subject experienced AEs that were judged “likely” to be procedure related (arthralgia/musculoskeletal discomfort) and all resolved within 6 days of injection. All other AEs were unrelated to the device or procedure. Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) pain scores improved significantly over time (ANOVA, p < 0.0001, 12.0 ± 1.2 preinjection, 3.3 ± 2.9 one year postinjection, and 72.5% WOMAC pain improvement). There was significant positive correlation between white blood cell concentration in APS and improvement in WOMAC pain scores. PMID:29279807

Rehearsal Processes in Children's Memory.

ERIC Educational Resources Information Center

Ornstein, Peter A.; Liberty, Charles

This study investigates developmental trends in free recall, with emphasis on rehearsal processes. An overt rehearsal technique was used in which 28 children in grades 3, 6, and 8 were instructed to rehearse out loud while trying to memorize a list of unrelated nouns. Control groups at each age level received standard free recall instructions,…

Nonequilibrium regolith thickness in the Ouachita Mountains

Treesearch

Jonathan D. Phillips; Daniel A. Marion; Kenneth Luckow; Kristin R. Adams

2005-01-01

Interpretations of regolith and soil thickness in the context of landscape evolution are typically based on the notion that thickness is controlled by the interaction of weathering rates and erosion and tuned to topography. On slideslopes of the Quachita Mountains, Arkansas, however, there is a high degree of local spatial varibilty that is largely unrelated to...

77 FR 12508 - Schedules of Controlled Substances: Placement of Five Synthetic Cannabinoids Into Schedule I

Federal Register 2010, 2011, 2012, 2013, 2014

2012-03-01

... Final Order, a ``cannabinoid'' is a class of chemical compounds in the marijuana \\3\\ plant that are... constituent of marijuana. ``Synthetic cannabinoids'' are a large family of chemically unrelated structures functionally (biologically) similar to THC, the active principal of marijuana. \\3\\ Note that ``marihuana'' is...

Meaningful Memory in Acute Anorexia Nervosa Patients-Comparing Recall, Learning, and Recognition of Semantically Related and Semantically Unrelated Word Stimuli.

PubMed

Terhoeven, Valentin; Kallen, Ursula; Ingenerf, Katrin; Aschenbrenner, Steffen; Weisbrod, Matthias; Herzog, Wolfgang; Brockmeyer, Timo; Friederich, Hans-Christoph; Nikendei, Christoph

2017-03-01

It is unclear whether observed memory impairment in anorexia nervosa (AN) depends on the semantic structure (categorized words) of material to be encoded. We aimed to investigate the processing of semantically related information in AN. Memory performance was assessed in a recall, learning, and recognition test in 27 adult women with AN (19 restricting, 8 binge-eating/purging subtype; average disease duration: 9.32 years) and 30 healthy controls using an extended version of the Rey Auditory Verbal Learning Test, applying semantically related and unrelated word stimuli. Short-term memory (immediate recall, learning), regardless of semantics of the words, was significantly worse in AN patients, whereas long-term memory (delayed recall, recognition) did not differ between AN patients and controls. Semantics of stimuli do not have a better effect on memory recall in AN compared to CO. Impaired short-term versus long-term memory is discussed in relation to dysfunctional working memory in AN. Copyright © 2016 John Wiley & Sons, Ltd and Eating Disorders Association. Copyright © 2016 John Wiley & Sons, Ltd and Eating Disorders Association.

[Predictive power of working memory task for reading comprehension: an investigation using reading span test].

PubMed

Morishita, Masanao; Kondo, Hirohito; Ashida, Kayo; Otsuka, Yuki; Osaka, Naoyuki

2007-02-01

This study investigated the crucial factor mediating a correlation between performance of reading span test (RST) and reading comprehension. In the research literature on this issue, one of the remaining controversial points is whether the similarity of sentence processing between RST and comprehension contributes to the correlation. In this study, four RST conditions were created by the combination of two factors: relatedness of stimulus sentences (related or unrelated with each other) and focus of target words (focus or non-focus with respect to sentence meaning). If the correlation is mediated by the similarity of sentence processing, RST performance of related and focus condition, which was most akin to comprehension, would have higher correlation with reading comprehension than other conditions. However, as a result of correlation analysis based on data from ninety-six participants, no such evidence was obtained. On the other hand, RST performance of unrelated conditions that were supposed to strongly require attention control showed significant correlation with reading comprehension. These findings are discussed in terms of the contribution of attention control and short-term memory to performing RST and reading comprehension.

Assessing mercury health effects in gold workers near El Callao, Venezuela.

PubMed

Rojas, M; Drake, P L; Roberts, S M

2001-02-01

Mercury exposure and health status were examined in 40 gold workers in the area surrounding El Callao, Venezuela. Concentrations of mercury in workplace air were measured on 3 successive days, and spot urine and hair samples were also taken for analysis. Subjects underwent a physical examination and completed a questionnaire regarding employment history, work activities involving mercury exposure, use of protective clothing and equipment, and frequency of 37 symptoms associated with mercury toxicity. A complete set of health data was collected for 29 of the subjects. Use of protective equipment was limited, and 17.9%, 24.1%, and 48.3% of subjects had mercury concentrations in air, hair, and urine, respectively, above contemporary occupational exposure guidelines. Physical examination found the workers to be generally healthy and without overt symptoms of mercury toxicity. The frequency of psychoneurological, gastrointestinal, cardio-respiratory, and dermal symptoms was unrelated to any of the measures of mercury exposure. Two subjects had modestly elevated urinary levels of N-acetyl beta-D-glucosaminidase. Despite substantial occupational exposure to mercury among a number of the subjects, few adverse health effects were observed that were plausibly related to mercury.

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

PubMed

Posch, Maximilian G; Waldmuller, Stephan; Müller, Melanie; Scheffold, Thomas; Fournier, David; Andrade-Navarro, Miguel A; De Geeter, Bernard; Guillaumont, Sophie; Dauphin, Claire; Yousseff, Dany; Schmitt, Katharina R; Perrot, Andreas; Berger, Felix; Hetzer, Roland; Bouvagnet, Patrice; Özcelik, Cemil

2011-01-01

Secundum-type atrial septal defects (ASDII) account for approximately 10% of all congenital heart defects (CHD) and are associated with a familial risk. Mutations in transcription factors represent a genetic source for ASDII. Yet, little is known about the role of mutations in sarcomeric genes in ASDII etiology. To assess the role of sarcomeric genes in patients with inherited ASDII, we analyzed 13 sarcomeric genes (MYH7, MYBPC3, TNNT2, TCAP, TNNI3, MYH6, TPM1, MYL2, CSRP3, ACTC1, MYL3, TNNC1, and TTN kinase region) in 31 patients with familial ASDII using array-based resequencing. Genotyping of family relatives and control subjects as well as structural and homology analyses were used to evaluate the pathogenic impact of novel non-synonymous gene variants. Three novel missense mutations were found in the MYH6 gene encoding alpha-myosin heavy chain (R17H, C539R, and K543R). These mutations co-segregated with CHD in the families and were absent in 370 control alleles. Interestingly, all three MYH6 mutations are located in a highly conserved region of the alpha-myosin motor domain, which is involved in myosin-actin interaction. In addition, the cardiomyopathy related MYH6-A1004S and the MYBPC3-A833T mutations were also found in one and two unrelated subjects with ASDII, respectively. No mutations were found in the 11 other sarcomeric genes analyzed. The study indicates that sarcomeric gene mutations may represent a so far underestimated genetic source for familial recurrence of ASDII. In particular, perturbations in the MYH6 head domain seem to play a major role in the genetic origin of familial ASDII.

Event-related potentials of self-face recognition in children with pervasive developmental disorders.

PubMed

Gunji, Atsuko; Inagaki, Masumi; Inoue, Yuki; Takeshima, Yasuyuki; Kaga, Makiko

2009-02-01

Patients with pervasive developmental disorders (PDD) often have difficulty reading facial expressions and deciphering their implied meaning. We focused on semantic encoding related to face cognition to investigate event-related potentials (ERPs) to the subject's own face and familiar faces in children with and without PDD. Eight children with PDD (seven boys and one girl; aged 10.8+/-2.9 years; one left-handed) and nine age-matched typically developing children (four boys and five girls; aged 11.3+/-2.3 years; one left-handed) participated in this study. The stimuli consisted of three face images (self, familiar, and unfamiliar faces), one scrambled face image, and one object image (e.g., cup) with gray scale. We confirmed three major components: N170 and early posterior negativity (EPN) in the occipito-temporal regions (T5 and T6) and P300 in the parietal region (Pz). An enhanced N170 was observed as a face-specific response in all subjects. However, semantic encoding of each face might be unrelated to N170 because the amplitude and latency were not significantly different among the face conditions. On the other hand, an additional component after N170, EPN which was calculated in each subtracted waveform (self vs. familiar and familiar vs. unfamiliar), indicated self-awareness and familiarity with respect to face cognition in the control adults and children. Furthermore, the P300 amplitude in the control adults was significantly greater in the self-face condition than in the familiar-face condition. However, no significant differences in the EPN and P300 components were observed among the self-, familiar-, and unfamiliar-face conditions in the PDD children. The results suggest a deficit of semantic encoding of faces in children with PDD, which may be implicated in their delay in social communication.

High Incidence of ACE/PAI-1 in Association to a Spectrum of Other Polymorphic Cardiovascular Genes Involving PBMCs Proinflammatory Cytokines in Hypertensive Hypercholesterolemic Patients: Reversibility with a Combination of ACE Inhibitor and Statin

PubMed Central

Mouawad, Charbel; Haddad, Katia; Hamoui, Samar; Azar, Albert; Fajloun, Ziad; Makdissy, Nehman

2015-01-01

Cardiovascular diseases (CVDs) are significantly high in the Lebanese population with the two most predominant forms being atherosclerosis and venous thrombosis. The purpose of our study was to assess the association of a spectrum of CVD related genes and combined state of hypertension hypercholesterolemia (HH) in unrelated Lebanese. Twelve polymorphisms were studied by multiplex PCR and reverse hybridization of DNA from 171 healthy individuals and 144 HH subjects. Two genes were significantly associated with HH: ACE (OR: 9.20, P<0.0001) and PAI-1 (OR: 2.29, P = 0.007), respectively with the occurrence of the risky alleles “Del” and “4G”. The frequencies of the Del and 4G alleles were found to be 0.98 and 0.90 in the HH group versus 0.84 and 0.79 in the healthy group, respectively. Serum ACE activity and PAI-I increased significantly with Del/Del and 4G/5G genotypes. The co-expression of Del/4G(+/+) was detected in 113 out of 171 (66.0%) controls and 125 out of 144 (86.8%) HH subjects. Del/4G(-/-) was detected in only 6 (3.5%) controls and undetected in the HH group. Three venous thrombosis related genes [FV(Leiden), MTHFR(A1298C) and FXIII(V34L)] were significantly related to the prominence of the co-expression of Del/4G(+/+). A range of 2 to 8 combined polymorphisms co-expressed per subject where 5 mutations were the most detected. In Del/4G(+/+) subjects, peripheral blood mononuclear cells (PBMCs) produced significant elevated levels of IFN-γ and TNF-α contrary to IL-10, and no variations occurred for IL-4. ACE inhibitor (ramipril) in combination with statin (atorvastatin) and not alone reversed significantly the situation. This first report from Lebanon sheds light on an additional genetic predisposition of a complex spectrum of genes involved in CVD and suggests that the most requested gene FVL by physicians may not be sufficient to diagnose eventual future problems that can occur in the cardiovascular system. Subjects expressing the double mutations (Del/4G) are at high risk for the onset of CVDs. PMID:25973747

High Incidence of ACE/PAI-1 in Association to a Spectrum of Other Polymorphic Cardiovascular Genes Involving PBMCs Proinflammatory Cytokines in Hypertensive Hypercholesterolemic Patients: Reversibility with a Combination of ACE Inhibitor and Statin.

PubMed

AlBacha, Jeanne d'Arc; Khoury, Mira; Mouawad, Charbel; Haddad, Katia; Hamoui, Samar; Azar, Albert; Fajloun, Ziad; Makdissy, Nehman

2015-01-01

Cardiovascular diseases (CVDs) are significantly high in the Lebanese population with the two most predominant forms being atherosclerosis and venous thrombosis. The purpose of our study was to assess the association of a spectrum of CVD related genes and combined state of hypertension hypercholesterolemia (HH) in unrelated Lebanese. Twelve polymorphisms were studied by multiplex PCR and reverse hybridization of DNA from 171 healthy individuals and 144 HH subjects. Two genes were significantly associated with HH: ACE (OR: 9.20, P<0.0001) and PAI-1 (OR: 2.29, P = 0.007), respectively with the occurrence of the risky alleles "Del" and "4G". The frequencies of the Del and 4G alleles were found to be 0.98 and 0.90 in the HH group versus 0.84 and 0.79 in the healthy group, respectively. Serum ACE activity and PAI-I increased significantly with Del/Del and 4G/5G genotypes. The co-expression of Del/4G(+/+) was detected in 113 out of 171 (66.0%) controls and 125 out of 144 (86.8%) HH subjects. Del/4G(-/-) was detected in only 6 (3.5%) controls and undetected in the HH group. Three venous thrombosis related genes [FV(Leiden), MTHFR(A1298C) and FXIII(V34L)] were significantly related to the prominence of the co-expression of Del/4G(+/+). A range of 2 to 8 combined polymorphisms co-expressed per subject where 5 mutations were the most detected. In Del/4G(+/+) subjects, peripheral blood mononuclear cells (PBMCs) produced significant elevated levels of IFN-γ and TNF-α contrary to IL-10, and no variations occurred for IL-4. ACE inhibitor (ramipril) in combination with statin (atorvastatin) and not alone reversed significantly the situation. This first report from Lebanon sheds light on an additional genetic predisposition of a complex spectrum of genes involved in CVD and suggests that the most requested gene FVL by physicians may not be sufficient to diagnose eventual future problems that can occur in the cardiovascular system. Subjects expressing the double mutations (Del/4G) are at high risk for the onset of CVDs.

Identification of a polymorphism in the transmembrane domain of the protooncogene c-kit in healthy subjects.

PubMed

Nagata, H; Worobec, A S; Metcalfe, D D

1996-01-01

c-Kit is the receptor for stem cell factor (SCF) and is found on hematopoietic stem cells, mast cells, melanocytes, and germ cells. Aggregation of c-Kit by SCF regulates cell proliferation, differentiation, and survival. In the process of examining c-Kit, a polymorphism in the transmembrane domain of the protooncogene c-Kit was identified. This polymorphism consisted of an A-to-C transversion at nucleotide (nt) 1642, and was deduced to substitute leucine for methionine at codon 541. The frequency of the allele with 'C' at nt 1642 was 0.09 in 64 unrelated subjects. Analysis of a two-generation family with the polymorphism suggested that this polymorphism did not result in disease. This is the first report of a polymorphism in the transmembrane domain of c-Kit, and may be of value in understanding and following the function of c-Kit in normal subjects and in those with other abnormalities of c-Kit.

Revista de Saúde Pública: 50 years disseminating the knowledge in nutrition

PubMed Central

Sichieri, Rosely; Pereira, Rosangela A

2016-01-01

ABSTRACT This work describes and comments on articles in the area of Public Health Nutrition published in Revista de Saúde Pública (RSP – Public Health Journal) from 1967 to 2016. We searched in the PubMed database restricted to the periodical “Revista de Saúde Pública” and using terms related to key topics in the area of Public Health Nutrition. We retrieved 742 articles and, after exclusion of duplicates and articles unrelated to the subject, we analyzed 441 articles, grouped according to subject: dental caries, anemia, hypovitaminosis A, macro/micronutrients, malnutrition, nutritional assessment, overweight/obesity, food consumption, low birthweight, and breastfeeding. We observed significant increase in the number of articles published and diversification of subjects addressed over the 50 years, representing the consistent development of the scientific field of Nutrition in Brazil. Since its inception, RSP has played an important role in the dissemination of knowledge about the main nutritional issues in Brazil. PMID:28099649

26 CFR 1.514(a)-1 - Unrelated debt-financed income and deductions.

Code of Federal Regulations, 2014 CFR

2014-04-01

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26 CFR 1.1443-1 - Foreign tax-exempt organizations.

Code of Federal Regulations, 2010 CFR

2010-04-01

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48 CFR 1828.371 - Clauses for cross-waivers of liability for Space Shuttle services, Expendable Launch Vehicle (ELV...

Code of Federal Regulations, 2012 CFR

2012-10-01

... Space Station activities and Science or Space Exploration activities unrelated to the International... Exploration activities unrelated to the International Space Station that involve a launch, NASA shall require... or Space Exploration Activities unrelated to the International Space Station, in solicitations and...

Adaptive genetic complementarity in mate choice coexists with selection for elaborate sexual traits

PubMed Central

Oh, Kevin P; Badyaev, Alexander V

2006-01-01

Choice of genetically unrelated mates is widely documented, yet it is not known how self-referential mate choice can co-occur with commonly observed directional selection on sexual displays. Across 10 breeding seasons in a wild bird population, we found strong fitness benefits of matings between genetically unrelated partners and show that self-referential choice of genetically unrelated mates alternates with sexual selection on elaborate plumage. Seasonal cycles of diminishing variation in ornamentation, caused by early pairing of the most elaborated males, and influx of increasingly genetically unrelated available mates caused by female-biased dispersal, lead to temporal fluctuations in the target of mate choice and enabled coexistence of directional selection for ornament elaboration with adaptive pairing of genetically unrelated partners. PMID:16822752

Qualitative "trial-sibling" studies and "unrelated" qualitative studies contributed to complex intervention reviews.

PubMed

Noyes, Jane; Hendry, Margaret; Lewin, Simon; Glenton, Claire; Chandler, Jackie; Rashidian, Arash

2016-06-01

To compare the contribution of "trial-sibling" and "unrelated" qualitative studies in complex intervention reviews. Researchers are using qualitative "trial-sibling" studies undertaken alongside trials to provide explanations to understand complex interventions. In the absence of qualitative "trial-sibling" studies, it is not known if qualitative studies "unrelated" to trials are helpful. Trials, "trial-sibling," and "unrelated" qualitative studies looking at three health system interventions were identified. We looked for similarities and differences between the two types of qualitative studies, such as participants, intervention delivery, context, study quality and reporting, and contribution to understanding trial results. Reporting was generally poor in both qualitative study types. We detected no substantial differences in participant characteristics. Interventions in qualitative "trial-sibling" studies were delivered using standardized protocols, whereas interventions in "unrelated" qualitative studies were delivered in routine care. Qualitative "trial-sibling" studies alone provided insufficient data to develop meaningful transferrable explanations beyond the trial context, and their limited focus on immediate implementation did not address all phenomena of interest. Together, "trial-sibling" and "unrelated" qualitative studies provided larger, richer data sets across contexts to better understand the phenomena of interest. Findings support inclusion of "trial-sibling" and "unrelated" qualitative studies to explore complexity in complex intervention reviews. Copyright © 2016 Elsevier Inc. All rights reserved.

Fine-coarse semantic processing in schizophrenia: a reversed pattern of hemispheric dominance.

PubMed

Zeev-Wolf, Maor; Goldstein, Abraham; Levkovitz, Yechiel; Faust, Miriam

2014-04-01

Left lateralization for language processing is a feature of neurotypical brains. In individuals with schizophrenia, lack of left lateralization is associated with the language impairments manifested in this population. Beeman׳s fine-coarse semantic coding model asserts left hemisphere specialization in fine (i.e., conventionalized) semantic coding and right hemisphere specialization in coarse (i.e., non-conventionalized) semantic coding. Applying this model to schizophrenia would suggest that language impairments in this population are a result of greater reliance on coarse semantic coding. We investigated this hypothesis and examined whether a reversed pattern of hemispheric involvement in fine-coarse semantic coding along the time course of activation could be detected in individuals with schizophrenia. Seventeen individuals with schizophrenia and 30 neurotypical participants were presented with two word expressions of four types: literal, conventional metaphoric, unrelated (exemplars of fine semantic coding) and novel metaphoric (an exemplar of coarse semantic coding). Expressions were separated by either a short (250 ms) or long (750 ms) delay. Findings indicate that whereas during novel metaphor processing, controls displayed a left hemisphere advantage at 250 ms delay and right hemisphere advantage at 750 ms, individuals with schizophrenia displayed the opposite. For conventional metaphoric and unrelated expressions, controls showed left hemisphere advantage across times, while individuals with schizophrenia showed a right hemisphere advantage. Furthermore, whereas individuals with schizophrenia were less accurate than control at judging literal, conventional metaphoric and unrelated expressions they were more accurate when judging novel metaphors. Results suggest that individuals with schizophrenia display a reversed pattern of lateralization for semantic coding which causes them to rely more heavily on coarse semantic coding. Thus, for individuals with schizophrenia, speech situation are always non-conventional, compelling them to constantly seek for meanings and prejudicing them toward novel or atypical speech acts. This, in turn, may disadvantage them in conventionalized communication and result in language impairment. Copyright © 2014 Elsevier Ltd. All rights reserved.

Subjective Age and Changes in Memory in Older Adults.

PubMed

Stephan, Yannick; Sutin, Angelina R; Caudroit, Johan; Terracciano, Antonio

2016-07-01

The subjective experience of aging, indexed by how old or young an individual feels, has been related to well-being and health-related outcomes among older adults. The present study examined whether subjective age is associated with memory level and changes, as indexed by measures of immediate and delayed recall. A complementary purpose was to test the mediating role of depressive symptoms and physical activity in the relation between subjective age and memory changes. Participants were drawn from three waves of the Health and Retirement Study. Subjective age, baseline memory measures, and covariates were assessed during the 2008 wave (N = 5809), depressive symptoms and physical activity were assessed again in the 2010 wave, and the follow-up memory measures were assessed in the 2012 wave. Regression analyses that included demographic, metabolic, and vascular covariates revealed that a younger subjective age at baseline was associated with better concurrent performance and with slower decline in immediate and delayed recall. Bootstrap procedures indicated that fewer depressive symptoms mediated these associations. Additional analyses revealed that memory level and change were unrelated to changes in subjective age. Beyond chronological age, the subjective experience of age is associated with cognitive aging. © The Author 2015. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

G6PD deficiency assessment in Freetown, Sierra Leone, reveals further insight into the molecular heterogeneity of G6PD A-.

PubMed

Jalloh, Amadu; Jalloh, Muctarr; Gamanga, Idrissa; Baion, David; Sahr, Foday; Gbakima, Aiah; Willoughby, Victor R; Matsuoka, Hiroyuki

2008-01-01

Glucose-6-phosphate dehydrogenase (G6PD) deficiency in Africa is of high prevalence, although precise data are lacking in many individual nations. We investigated 129 unrelated subjects (71 male subjects, 58 female subjects) visiting a teaching hospital in Freetown, Sierra Leone, to collect baseline data on the distribution of G6PD deficiency among respective ethnic groups in the country. We confirmed eight G6PD-deficient male subjects by two formazan-based blood tests (11.3% of the male subjects examined), and also detected the common 376A > G mutation in 11 male subjects and eight female subjects by sequencing exons 3-5 of the G6PD gene. Selected samples were further sequenced for exons 2-13 and introns 5, 7, 8, and 11. Among the deficient male subjects, six were G6PD A- carrying the double mutations (202G > A and 376A > G), all of whom were in the Temne and Mende ethnic groups. Others included A- Betica, and a novel variant having double mutations in exon 5 (311G > A and 376A > G forming 104 Arg > His and 126 Asn > Asp, respectively), which we designate as G6PD Sierra Leone. Subsequent haplotype analysis linked this novel variant to the G6PD A- "family".

The contrasting role of male relatedness in different mechanisms of sexual selection in red junglefowl

PubMed Central

Tan, Cedric Kai Wei; Doyle, Philippa; Bagshaw, Emma; Richardson, David S.; Wigby, Stuart; Pizzari, Tommaso

2017-01-01

In structured populations, competition for reproductive opportunities should be relaxed among related males. The few tests of this prediction often neglect the fact that sexual selection acts through multiple mechanisms, both before and after mating. We performed experiments to study the role of within‐group male relatedness across pre‐ and postcopulatory mechanisms of sexual selection in social groups of red junglefowl, Gallus gallus, in which two related males and one unrelated male competed over females unrelated to all the males. We confirm theoretical expectations that, after controlling for male social status, competition over mating was reduced among related males. However, this effect was contrasted by other sexual selection mechanisms. First, females biased male mating in favor of the unrelated male, and might also favor his inseminations after mating. Second, males invested more—rather than fewer—sperm in postcopulatory competition with relatives. A number of factors may contribute to explain this counterintuitive pattern of sperm allocation, including trade‐offs between male investment in pre‐ versus postcopulatory competition, differences in the relative relatedness of pre‐ versus postcopulatory competitors, and female bias in sperm utilization in response to male relatedness. Collectively, these results reveal that within‐group male relatedness may have contrasting effects in different mechanisms of sexual selection. PMID:27925168

The Nature of Nurture

PubMed Central

Harold, Gordon T.; Leve, Leslie D.; Elam, Kit K.; Thapar, Anita; Neiderhiser, Jenae M.; Natsuaki, Misaki N.; Shaw, Daniel S.; Reiss, David

2013-01-01

The relationship between interparental conflict, hostile parenting, and children's externalizing problems is well established. Few studies, however, have examined the pattern of association underlying this constellation of family and child level variables while controlling for the possible confounding presence of passive genotype–environment correlation. Using the attributes of 2 genetically sensitive research designs, the present study examined associations among interparental conflict, parent-to-child hostility, and children's externalizing problems among genetically related and genetically unrelated mother–child and father–child groupings. Analyses were conducted separately by parent gender, thereby allowing examination of the relative role of the mother–child and father–child relationships on children's behavioral outcomes. Path analyses revealed that for both genetically related and genetically unrelated parents and children, indirect associations were apparent from interparental conflict to child externalizing problems through mother-to-child and father-to-child hostility. Associations between interparental conflict and parent-to-child hostility across genetically related and genetically unrelated parent–child groupings were significantly stronger for fathers compared to mothers. Results are discussed with respect to the role of passive genotype–environment correlation as a possible confounding influence in interpreting research findings from previous studies conducted in this area. Implications for intervention programs focusing on family process influences on child externalizing problems are also considered. PMID:23421830

Histocompatibility antigens and genetic control of the immune response in guinea-pigs. V. Evidence from further breeding studies for the polygenic control of the cellular immune response to structurally unrelated antigens in the guinea-pig.

PubMed

Geczy, A F; de Weck, A L

1977-10-01

Further breeding studies were carried out to investigate the polygenic control of the cellular immune response in the guinea-pig to low doses of aspirin anhydride (ASAN), penicilloylated bovine immunoglobulin (BPO-BGG) and to the multi-chain copolymer (T, G)-A-L. Although responsiveness to these three antigens is controlled by three independently segregating loci, at least one gene required for these responses is linked to the strain 13 haplotype.

Allelic barley MLA immune receptors recognize sequence-unrelated avirulence effectors of the powdery mildew pathogen

PubMed Central

Lu, Xunli; Kracher, Barbara; Saur, Isabel M. L.; Bauer, Saskia; Ellwood, Simon R.; Wise, Roger; Yaeno, Takashi; Maekawa, Takaki; Schulze-Lefert, Paul

2016-01-01

Disease-resistance genes encoding intracellular nucleotide-binding domain and leucine-rich repeat proteins (NLRs) are key components of the plant innate immune system and typically detect the presence of isolate-specific avirulence (AVR) effectors from pathogens. NLR genes define the fastest-evolving gene family of flowering plants and are often arranged in gene clusters containing multiple paralogs, contributing to copy number and allele-specific NLR variation within a host species. Barley mildew resistance locus a (Mla) has been subject to extensive functional diversification, resulting in allelic resistance specificities each recognizing a cognate, but largely unidentified, AVRa gene of the powdery mildew fungus, Blumeria graminis f. sp. hordei (Bgh). We applied a transcriptome-wide association study among 17 Bgh isolates containing different AVRa genes and identified AVRa1 and AVRa13, encoding candidate-secreted effectors recognized by Mla1 and Mla13 alleles, respectively. Transient expression of the effector genes in barley leaves or protoplasts was sufficient to trigger Mla1 or Mla13 allele-specific cell death, a hallmark of NLR receptor-mediated immunity. AVRa1 and AVRa13 are phylogenetically unrelated, demonstrating that certain allelic MLA receptors evolved to recognize sequence-unrelated effectors. They are ancient effectors because corresponding loci are present in wheat powdery mildew. AVRA1 recognition by barley MLA1 is retained in transgenic Arabidopsis, indicating that AVRA1 directly binds MLA1 or that its recognition involves an evolutionarily conserved host target of AVRA1. Furthermore, analysis of transcriptome-wide sequence variation among the Bgh isolates provides evidence for Bgh population structure that is partially linked to geographic isolation. PMID:27702901

Esthetic evaluation of the facial profile in rehabilitated adults with complete bilateral cleft lip and palate.

PubMed

Ferrari Júnior, Flávio Mauro; Ayub, Priscila Vaz; Capelozza Filho, Leopoldino; Pereira Lauris, José Roberto; Garib, Daniela Gamba

2015-01-01

To assess the facial esthetics of patients with complete bilateral cleft lip and palate, and to compare the judgment of raters related and unrelated to cleft care. The sample comprised 23 adult patients (7 women and 16 men) with a mean age of 26.1 years, rehabilitated at a single center. Standardized photographs of the right and left facial profile were taken of each patient and subjectively evaluated by 25 examiners: 5 orthodontists and 5 plastic surgeons with expertise in oral cleft rehabilitation, 5 orthodontists and 5 plastic surgeons without expertise in oral cleft rehabilitation, and 5 laypersons. The facial profiles were classified into 3 categories: esthetically unpleasant, esthetically acceptable, and esthetically pleasant. Intraexaminer and interexaminer agreements were evaluated with the Spearman correlation coefficient and Kendall coefficient of concordance. The differences between rater categories were analyzed using the Student-Newman-Keuls test (with P < .05 indicating a statistically significant difference). Most of the sample was classified as esthetically acceptable. Orthodontists and plastic surgeons related to oral cleft rehabilitation gave the best scores to the facial profiles, followed by layperson examiners and by orthodontists and plastic surgeons unrelated to oral cleft rehabilitation. The middle third of the face, the nose, and the upper lip were frequently pointed out as contributors to the esthetic impairment. The facial profile of rehabilitated adult patients with complete bilateral cleft lip and palate was considered esthetically acceptable because of morphologic limitations in the structures affected by the cleft. Laypersons and professionals unrelated to oral cleft rehabilitation seem to be more critical regarding facial esthetics than professionals involved with cleft rehabilitation. Copyright © 2015. Published by Elsevier Inc.

Allelic barley MLA immune receptors recognize sequence-unrelated avirulence effectors of the powdery mildew pathogen.

PubMed

Lu, Xunli; Kracher, Barbara; Saur, Isabel M L; Bauer, Saskia; Ellwood, Simon R; Wise, Roger; Yaeno, Takashi; Maekawa, Takaki; Schulze-Lefert, Paul

2016-10-18

Disease-resistance genes encoding intracellular nucleotide-binding domain and leucine-rich repeat proteins (NLRs) are key components of the plant innate immune system and typically detect the presence of isolate-specific avirulence (AVR) effectors from pathogens. NLR genes define the fastest-evolving gene family of flowering plants and are often arranged in gene clusters containing multiple paralogs, contributing to copy number and allele-specific NLR variation within a host species. Barley mildew resistance locus a (Mla) has been subject to extensive functional diversification, resulting in allelic resistance specificities each recognizing a cognate, but largely unidentified, AVR a gene of the powdery mildew fungus, Blumeria graminis f. sp. hordei (Bgh). We applied a transcriptome-wide association study among 17 Bgh isolates containing different AVR a genes and identified AVR a1 and AVR a13 , encoding candidate-secreted effectors recognized by Mla1 and Mla13 alleles, respectively. Transient expression of the effector genes in barley leaves or protoplasts was sufficient to trigger Mla1 or Mla13 allele-specific cell death, a hallmark of NLR receptor-mediated immunity. AVR a1 and AVR a13 are phylogenetically unrelated, demonstrating that certain allelic MLA receptors evolved to recognize sequence-unrelated effectors. They are ancient effectors because corresponding loci are present in wheat powdery mildew. AVR A1 recognition by barley MLA1 is retained in transgenic Arabidopsis, indicating that AVR A1 directly binds MLA1 or that its recognition involves an evolutionarily conserved host target of AVR A1 Furthermore, analysis of transcriptome-wide sequence variation among the Bgh isolates provides evidence for Bgh population structure that is partially linked to geographic isolation.

Mechanisms underlying the production of false memories for famous people's names in aging and Alzheimer's disease.

PubMed

Plancher, Gaën; Guyard, Anne; Nicolas, Serge; Piolino, Pascale

2009-10-01

It is well known that the occurrence of false memories increases with aging, but the results remain inconsistent concerning Alzheimer's disease (AD). Moreover, the mechanisms underlying the production of false memories are still unclear. Using an experimental episodic memory test with material based on the names of famous people in a procedure derived from the DRM paradigm [Roediger, H. L., III, & McDermott, K. B. (1995). Creating false memories: Remembering words not presented in lists. Journal of Experimental Psychology: Learning, Memory & Cognition, 21, 803-814], we examined correct and false recall and recognition in 30 young adults, 40 healthy older adults, and 30 patients with AD. Moreover, we evaluated the relationships between false memory performance, correct episodic memory performance, and a set of neuropsychological assessments evaluating the semantic memory and executive functions. The results clearly indicated that correct recall and recognition performance decreased with the subjects' age, but it decreased even more with AD. In addition, semantically related false recalls and false recognitions increased with age but not with dementia. On the contrary, non-semantically related false recalls and false recognitions increased with AD. Finally, the regression analyses showed that executive functions mediated related false memories and episodic memory mediated related and unrelated false memories in aging. Moreover, executive functions predicted related and unrelated false memories in AD, and episodic and semantic memory predicted semantically related and unrelated false memories in AD. In conclusion, the results obtained are consistent with the current constructive models of memory suggesting that false memory creation depends on different cognitive functions and, consequently, that the impairments of these functions influence the production of false memories.

Employment Standards for Australian Urban Firefighters: Part 4: Physical Aptitude Tests and Standards.

PubMed

Fullagar, Hugh H K; Sampson, John A; Mott, Brendan J; Burdon, Catriona A; Taylor, Nigel A S; Groeller, Herbert

2015-10-01

Firefighter physical aptitude tests were administered to unskilled subjects and operational firefighters to evaluate the impact that testing bias associated with gender, age, activity-specific skills, or task familiarity may have upon establishing performance thresholds. These tests were administered in sequence, simulating hazmat incidents, ventilation fan carriage (stairs), motor-vehicle rescues, bushfire incidents, fire attacks, and a firefighter rescue. Participants included two unskilled samples (N = 14 and 22) and 143 firefighters. Firefighter performance was not significantly different from the unskilled subjects. Participants from both genders passed the test, with scores unrelated to performance skill or age; however, familiarization significantly improved performance when the test was repeated. These outcomes confirmed this test to be gender-, age-, and skill-neutral. Familiarization effects could be removed through performing a single, pre-selection trial of the test battery.

Shape of Caudate Nucleus and Its Cognitive Correlates in Neuroleptic-Naive Schizotypal Personality Disorder

PubMed Central

Levitt, James J.; Westin, Carl-Fredrik; Nestor, Paul G.; Estepar, Raul S.J.; Dickey, Chandlee C.; Voglmaier, Martina M.; Seidman, Larry J.; Kikinis, Ron; Jolesz, Ferenc A.; McCarley, Robert W.; Shenton, Martha E.

2009-01-01

Background We measured the shape of the head of the caudate nucleus with a new approach based on magnetic resonance imaging (MRI) in schizotypal personality disorder (SPD) subjects in whom we previously reported decreased caudate nucleus volume. We believe MRI shape analysis complements traditional MRI volume measurements. Methods Magnetic resonance imaging scans were used to measure the shape of the caudate nucleus in 15 right-handed male subjects with SPD, who had no prior neuroleptic exposure, and in 14 matched normal comparison subjects. With MRI processing tools, we measured the head of the caudate nucleus using a shape index, which measured how much a given shape deviates from a sphere. Results In relation to comparison subjects, neuroleptic never-medicated SPD subjects had significantly higher (more “edgy”) head of the caudate shape index scores, lateralized to the right side. Additionally, for SPD subjects, higher right and left head of the caudate SI scores correlated significantly with poorer neuropsychological performance on tasks of visuospatial memory and auditory/verbal working memory, respectively. Conclusions These data confirm the value of measuring shape, as well as volume, of brain regions of interest and support the association of intrinsic pathology in the caudate nucleus, unrelated to neuroleptic medication, with cognitive abnormalities in the schizophrenia spectrum. PMID:14732598

Frequencies of CYP2D6 mutant alleles in a normal Japanese population and metabolic activity of dextromethorphan O-demethylation in different CYP2D6 genotypes

PubMed Central

Kubota, T; Yamaura, Y; Ohkawa, N; Hara, H; Chiba, K

2000-01-01

Aims To determine the frequencies of 11 CYP2D6 mutant alleles (CYP2D6*2,*3,*4,*5,*8,*10,*11,*12,*14,*17 and *18), and their relation to the metabolic capacity of CYP2D6 in Japanese subjects. Methods One hundred and sixty-two unrelated healthy Japanese subjects were genotyped with the polymerase chain reaction amplification method and 35 subjects were phenotyped with dextromethorphan. Results The frequencies of CYP2D6*2,*5, *10 and *14 were 12.9, 6.2, 38.6 and 2.2% in our Japanese subjects, respectively. CYP2D6*3, *4, *8, *11, *12, *17 and *18 were not detected. The mean log metabolic ratio of dextromethorphan in subjects with genotypes predicting intermediate metabolizers was significantly greater than that of heterozygotes for functional and defective alleles. Conclusions CYP2D6*5 and CYP2D6*14 are the major defective alleles found in Japanese subjects. In addition, CYP2D6*10 may play a more important role than previously thought for the treatment of Japanese patients with drugs metabolized by CYP2D6. PMID:10886115

Social Isolation, Depression, and Psychological Distress Among Older Adults.

PubMed

Taylor, Harry Owen; Taylor, Robert Joseph; Nguyen, Ann W; Chatters, Linda

2018-02-01

To investigate the impact of objective and subjective social isolation from extended family members and friends on depressive symptoms and psychological distress among a national sample of older adults. Data for older adults (55 years and above) from the National Survey of American Life ( N = 1,439) were used to assess level of objective social isolation and subjective social isolation and to test regression models examining their impact on depressive symptoms (Center for Epidemiologic Studies Depression [CES-D] Scale) and psychological distress (Kessler 6 [K6] Scale). The majority of respondents were not socially isolated from family or friends; 5% were objectively isolated from family and friends, and less than 1% were subjectively isolated from family and friends. Regression analyses using both social isolation measures indicated that objective social isolation was unrelated to depressive symptoms and psychological distress. However, subjective social isolation from both family and friends and from friends only was associated with more depressive symptoms, and subjective social isolation from friends only was associated with higher levels of psychological distress. Assessments of social isolation among older populations should account for both subjective and objective dimensions, as well as both family and friend social networks. Social isolation from friends is an important, but understudied, issue that has significant consequences for older adult mental health.

[Polymorphisms of killer cell immunoglobulin-like receptor and its ligand HLA-I gene among northern Chinese Han population].

PubMed

Wu, Lingyan; Xie, Zhengde; Liu, Yali; Ai, Junhong; Liu, Chunyan; Shen, Kunling

2015-10-01

OBJECTIVE To investigate the distribution of killer cell immunoglobulin-like receptors (KIR) and their specific ligands human leukocyte antigen-I (HLA-I) gene in northern China. METHODS One hundred and eighty-four unrelated northern Chinese Han individuals were recruited. Genotypes of the KIR and HLA-ABC genes were studied by sequence-specific primer polymerase chain reaction (SSP-PCR). RESULTS Sixteen KIR genes were detected among the 184 unrelated individuals. In all individuals, the four framework genes were present. The frequencies for those carrying the remaining 12 KIR genes have ranged from 16.3% to 99.5%. Twenty-four KIR genotypes were identified, for which half were detected in a single individual. A new genotype comprised of KIR2DL3, 3DL1, 2DP1 and the framework genes was detected in one subject. Respectively, 12, 27 and 11 specificities of HLA alleles were identified on the HLA-A, B, C loci. CONCLUSION The distribution of polymorphisms of KIR and its ligand HLA-ABC genes among northern Chinese Han population have been ascertained. The frequencies of 9 KIR/HLA combinations in the above population have been determined for the first time.

Enhanced response to the induction of sister chromatid exchange by gamma radiation in neurofibromatosis

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

Hafez, M.; Abd el-Nabi, S.M.; el-Wehedi, G.

The study included 8 unrelated patients with neurofibromatosis, and 10 unrelated normal and healthy persons as controls. Whole blood samples were divided into plastic T flasks and exposed at room temperature to gamma rays. The radiation dose was 36 rad/minute, and the doses delivered were 0, 75, 150 and 300 rad. The lymphocytes were cultured in (RPMI) 1640 tissue culture medium and autologous serum (20%). Phytohemagglutinin and bromodeoxyuridine (Brdu) (10 microM) were added at initiation of culture and harvesting was done 64 to 68 hours after culture initiation. Slides were coded, differential staining was done, and sister chromatid exchanges (SCEs)more » and aberrations (gaps, breaks, dicentrics, fragments and minutes) were counted. In the controls no significant increase in frequency of SCE has been found (P greater than 0.5). In the patients, the frequencies significantly increased with the increase of dose of irradiation (P less than 0.001). Furthermore, after irradiation, the incidence of gaps, breaks, and dicentrics were significantly increased in patients compared with controls. Moreover, the incidence increased with the increase in the dose of radiation. The results are discussed with a conclusion that the results add to the indication of a genetic predisposition to develop cancer in neurofibromatosis patients.« less

Repetition-lag training to improve recollection memory in older people with amnestic mild cognitive impairment. A randomized controlled trial.

PubMed

Finn, Maurice; McDonald, Skye

2015-01-01

The results of a randomized controlled trial of repetition-lag training in older adults with amnestic mild cognitive impairment (aMCI) are reported. A modified repetition-lag training procedure with extended encoding time and strategy choice was used. The training required discriminating studied words from non-studied lures that were repeated at varying intervals during the test phase. Participants were assessed pre/post using untrained measures of cognition and self-report questionnaires. Primary outcome measures were recall of unrelated word pairs both immediately following presentation and following a delay. Secondary outcomes were a measure of attention, cognitive flexibility, and visual working memory. Participants were also asked to report on the frequency of cognitive failures and mood before and after training. Participants (N = 31) were randomized into either the treatment or a no-contact control group and attended the clinic twice per week over a four week period. Twenty-four participants completed the study (twelve in each group). Results indicated that the training group improved at recalling unrelated word pairs after a delay. There were no significant effects of training on other outcomes, self-reported cognitive failures or mood. The results are discussed along with suggestions for future research.

Unusual Methylobacterium fujisawaense Infection in a Patient with Acute Leukaemia Undergoing Hematopoietic Stem Cell Transplantation: First Case Report

PubMed Central

Fanci, Rosa; Corti, Giampaolo; Bartoloni, Alessandro; Tortoli, Enrico; Mariottini, Alessandro; Pecile, Patrizia

2010-01-01

Microorganisms of the genus Methylobacterium are facultative methylotrophic, gram-negative rods that are ubiquitous in nature and rarely cause human disease, mostly in subjects with preexisting causes of immune depression. Methylobacterium fujisawaense, first proposed as a new species in 1988, has never been reported as a bacterial agent of human infections so far. Here we describe a case of M. fujisawaense infection in a relapsed acute leukaemia undergoing unrelated allogeneic hematopoietic stem cell transplantation. Molecular identification of an M. fujisawaense strain was obtained from multiple mycobacterial blood cultures. PMID:20396386

Age-Related Deficits in Auditory Confrontation Naming

PubMed Central

Hanna-Pladdy, Brenda; Choi, Hyun

2015-01-01

The naming of manipulable objects in older and younger adults was evaluated across auditory, visual, and multisensory conditions. Older adults were less accurate and slower in naming across conditions, and all subjects were more impaired and slower to name action sounds than pictures or audiovisual combinations. Moreover, there was a sensory by age group interaction, revealing lower accuracy and increased latencies in auditory naming for older adults unrelated to hearing insensitivity but modest improvement to multisensory cues. These findings support age-related deficits in object action naming and suggest that auditory confrontation naming may be more sensitive than visual naming. PMID:20677880

Maternal smoking during pregnancy and offspring conduct problems: evidence from 3 independent genetically sensitive research designs.

PubMed

Gaysina, Darya; Fergusson, David M; Leve, Leslie D; Horwood, John; Reiss, David; Shaw, Daniel S; Elam, Kit K; Natsuaki, Misaki N; Neiderhiser, Jenae M; Harold, Gordon T

2013-09-01

Several studies report an association between maternal smoking during pregnancy and offspring conduct disorder. However, past research evidences difficulty in disaggregating prenatal environmental influences from genetic and postnatal environmental influences. To examine the relationship between maternal smoking during pregnancy and offspring conduct problems among children reared by genetically related mothers and genetically unrelated mothers. The following 3 studies using distinct but complementary research designs were used: The Christchurch Health and Development Study (a longitudinal cohort study that includes biological and adopted children), the Early Growth and Development Study (a longitudinal adoption-at-birth study), and the Cardiff IVF (In Vitro Fertilization) Study (an adoption-at-conception study among genetically related families and genetically unrelated families). Maternal smoking during pregnancy was measured as the mean number of cigarettes per day (0, 1-9, or 10) smoked during pregnancy. Possible covariates were controlled for in the analyses, including child sex, birth weight, race/ethnicity, placement age, and breastfeeding, as well as maternal education and maternal age at birth and family breakdown, parenting practices, and family socioeconomic status. Offspring conduct problems (age range, 4-10 years) reported by parents or teachers using the behavior rating scales by Rutter and Conners, the Child Behavior Checklist and the Children's Behavior Questionnaire Short Form, and the Strengths and Difficulties Questionnaire. A significant association between maternal smoking during pregnancy and offspring conduct problems was observed among children reared by genetically related mothers and genetically unrelated mothers. Results from a meta-analysis affirmed this pattern of findings across pooled study samples. Findings across 3 studies using a complement of genetically sensitive research designs suggest that smoking during pregnancy is a prenatal risk factor for offspring conduct problems when controlling for specific perinatal and postnatal confounding factors.

Maternal smoking during pregnancy and offspring conduct problems: Evidence from three independent genetically-sensitive research designs

PubMed Central

Gaysina, Darya; Fergusson, David M.; Leve, Leslie D.; Horwood, John; Reiss, David; Shaw, Daniel S.; Elam, Kit K.; Natsuaki, Misaki N.; Neiderhiser, Jenae M.; Harold, Gordon T.

2013-01-01

Context A number of studies report an association between maternal smoking during pregnancy and offspring conduct disorder. However, past research evidences difficulty disaggregating prenatal environmental from genetic and postnatal environmental influences. Objective To examine the relationship between maternal smoking during pregnancy and offspring conduct problems among children reared by genetically-related and genetically-unrelated mothers. Design, Setting and Participants Three studies employing distinct but complementary research designs were utilized: The Christchurch Health and Development Study (a longitudinal cohort study that includes biological and adopted children), the Early Growth and Development Study (a longitudinal adoption at birth study), and the Cardiff IVF Study (genetically-related and -unrelated families; an adoption at conception study). Maternal smoking during pregnancy was measured as the average number of cigarettes/day (0, 1–9 or 10+) smoked during pregnancy. A number of possible covariates (child gender, ethnicity, birth weight, breast feeding, maternal age at birth, maternal education, family SES, family breakdown, placement age, and parenting practices) were controlled in the analyses. Main Outcome Measure Child conduct problems (age 4–10 years) reported by parents and/or teachers using the Rutter and Conners behaviour scales, the Child Behavior Checklist and Children's Behavior Questionnaire, and the Strengths and Difficulties Questionnaire. Results A significant association between maternal smoking during pregnancy and child conduct problems was observed among children reared by genetically-related and genetically-unrelated mothers. Results from a meta-analysis affirmed this pattern of findings across pooled study samples. Conclusions Findings across the three studies using a complement of genetically-sensitive research designs suggest smoking during pregnancy is a prenatal risk factor for offspring conduct problems, when specific perinatal and postnatal confounding factors are controlled. PMID:23884431

Greater resting heart rate variability is associated with orgasms through penile-vaginal intercourse, but not with orgasms from other sources.

PubMed

Costa, Rui Miguel; Brody, Stuart

2012-01-01

Resting heart rate variability (HRV), a marker of parasympathetic activity, is a predictor of health and longevity. Better erectile function is associated with greater resting HRV (assessed by high frequency power [HF]), and in both sexes, penile-vaginal intercourse (PVI) is the only sexual behavior consistently associated with indices of better physical and mental health, including greater resting HRV (assessed by standard deviation [SD] of heart rate [HR]). To examine the hypotheses that greater frequency of orgasms attained through PVI (for women, without additional simultaneous clitoral stimulation; vaginal orgasm) are associated with greater resting HRV. A differential hypothesis is that HRV measures will be unrelated to orgasmic frequency from noncoital sexual activities. Coitally experienced men and women (N = 143) had their heart rate measured for 5 minutes and reported the frequency of various sexual behaviors and corresponding orgasms in a recent representative month. Partial correlations and analyses of covariance controlling for social desirability responding were used to examine the associations of sexual activities with time and frequency domains of HRV. For men, greater resting SD of HR was associated with greater PVI orgasm frequency. For women, greater resting SD of HR was associated with any vaginal orgasm. These findings remained after controlling for cohabitation. Sexual activities were unrelated to HF. Lifetime number of PVI partners was unrelated to SD of HR and HF. Findings are discussed in the context of orgasms through PVI enhancing HRV, and greater parasympathetic tone favoring the capacity to engage in PVI, and in the case of women, to reach vaginal orgasm. The possibility of healthier people having greater resting HRV and more frequent orgasms through specifically PVI is also considered. © 2011 International Society for Sexual Medicine.

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

PubMed

Raza, M Hashim; Mattera, Rafael; Morell, Robert; Sainz, Eduardo; Rahn, Rachel; Gutierrez, Joanne; Paris, Emily; Root, Jessica; Solomon, Beth; Brewer, Carmen; Basra, M Asim Raza; Khan, Shaheen; Riazuddin, Sheikh; Braun, Allen; Bonifacino, Juan S; Drayna, Dennis

2015-11-05

Stuttering is a common, highly heritable neurodevelopmental disorder characterized by deficits in the volitional control of speech. Whole-exome sequencing identified two heterozygous AP4E1 coding variants, c.1549G>A (p.Val517Ile) and c.2401G>A (p.Glu801Lys), that co-segregate with persistent developmental stuttering in a large Cameroonian family, and we observed the same two variants in unrelated Cameroonians with persistent stuttering. We found 23 other rare variants, including predicted loss-of-function variants, in AP4E1 in unrelated stuttering individuals in Cameroon, Pakistan, and North America. The rate of rare variants in AP4E1 was significantly higher in unrelated Pakistani and Cameroonian stuttering individuals than in population-matched control individuals, and coding variants in this gene are exceptionally rare in the general sub-Saharan West African, South Asian, and North American populations. Clinical examination of the Cameroonian family members failed to identify any symptoms previously reported in rare individuals carrying homozygous loss-of-function mutations in this gene. AP4E1 encodes the ε subunit of the heterotetrameric (ε-β4-μ4-σ4) AP-4 complex, involved in protein sorting at the trans-Golgi network. We found that the μ4 subunit of AP-4 interacts with NAGPA, an enzyme involved in the synthesis of the mannose 6-phosphate signal that targets acid hydrolases to the lysosome and the product of a gene previously associated with stuttering. These findings implicate deficits in intracellular trafficking in persistent stuttering. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Proceedings of the regional cogongrass conference: a cogongrass management guide

Treesearch

Nancy J. Loewenstein; James H. Miller

2007-01-01

This Regional Cogongrass Conference was organized because of the deep concerns expressed by many over the unrelenting invasion of this bold, unwanted, and hard-to-control grass, this cogongrass. Even though many seem acquiescent to the spread of kudzu, privets, or honeysuckle, the takeover by cogongrass drives well deserved fears and dire predictions by land users,...

The Role of the Left Head of Caudate in Suppressing Irrelevant Words

ERIC Educational Resources Information Center

Ali, Nilufa; Green, David W.; Kherif, Ferath; Devlin, Joseph T.; Price, Cathy J.

2010-01-01

Suppressing irrelevant words is essential to successful speech production and is expected to involve general control mechanisms that reduce interference from task-unrelated processing. To investigate the neural mechanisms that suppress visual word interference, we used fMRI and a Stroop task, using a block design with an event-related analysis.…

Logging On: Evaluating an Online Support Group for Parents of Children with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Clifford, Tessen; Minnes, Patricia

2013-01-01

Twenty mothers participated in an online support group for parents of children with autism spectrum disorders. Twenty-five unrelated parents participated in a no-treatment control group. The participants completed online questionnaires prior to and following the 4-month support group, to evaluate changes in mood, anxiety, parenting stress, and…

Blood transcriptomic comparison of individuals with and without autism spectrum disorder: A combined-samples mega-analysis.

PubMed

Tylee, Daniel S; Hess, Jonathan L; Quinn, Thomas P; Barve, Rahul; Huang, Hailiang; Zhang-James, Yanli; Chang, Jeffrey; Stamova, Boryana S; Sharp, Frank R; Hertz-Picciotto, Irva; Faraone, Stephen V; Kong, Sek Won; Glatt, Stephen J

2017-04-01

Blood-based microarray studies comparing individuals affected with autism spectrum disorder (ASD) and typically developing individuals help characterize differences in circulating immune cell functions and offer potential biomarker signal. We sought to combine the subject-level data from previously published studies by mega-analysis to increase the statistical power. We identified studies that compared ex vivo blood or lymphocytes from ASD-affected individuals and unrelated comparison subjects using Affymetrix or Illumina array platforms. Raw microarray data and clinical meta-data were obtained from seven studies, totaling 626 affected and 447 comparison subjects. Microarray data were processed using uniform methods. Covariate-controlled mixed-effect linear models were used to identify gene transcripts and co-expression network modules that were significantly associated with diagnostic status. Permutation-based gene-set analysis was used to identify functionally related sets of genes that were over- and under-expressed among ASD samples. Our results were consistent with diminished interferon-, EGF-, PDGF-, PI3K-AKT-mTOR-, and RAS-MAPK-signaling cascades, and increased ribosomal translation and NK-cell related activity in ASD. We explored evidence for sex-differences in the ASD-related transcriptomic signature. We also demonstrated that machine-learning classifiers using blood transcriptome data perform with moderate accuracy when data are combined across studies. Comparing our results with those from blood-based studies of protein biomarkers (e.g., cytokines and trophic factors), we propose that ASD may feature decoupling between certain circulating signaling proteins (higher in ASD samples) and the transcriptional cascades which they typically elicit within circulating immune cells (lower in ASD samples). These findings provide insight into ASD-related transcriptional differences in circulating immune cells. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Unique β-Glucuronidase Locus in Gut Microbiomes of Crohn’s Disease Patients and Unaffected First-Degree Relatives

PubMed Central

Gloux, Karine; Anba-Mondoloni, Jamila

2016-01-01

Crohn’s disease, an incurable chronic inflammatory bowel disease, has been attributed to both genetic predisposition and environmental factors. A dysbiosis of the gut microbiota, observed in numerous patients but also in at least one hundred unaffected first-degree relatives, was proposed to have a causal role. Gut microbiota β-D-glucuronidases (EC 3.2.1.33) hydrolyse β-D-glucuronate from glucuronidated compounds. They include a GUS group, that is homologous to the Escherichia coli GusA, and a BG group, that is homologous to metagenomically identified H11G11 BG and has unidentified natural substrates. H11G11 BG is part of the functional core of the human gut microbiota whereas GusA, known to regenerate various toxic products, is variably found in human subjects. We investigated potential risk markers for Crohn’s disease using DNA-sequence-based exploration of the β-D-glucuronidase loci (GUS or Firmicute H11G11-BG and the respective co-encoded glucuronide transporters). Crohn’s disease-related microbiomes revealed a higher frequency of a C7D2 glucuronide transporter (12/13) compared to unrelated healthy subjects (8/32). This transporter was in synteny with the potential harmful GUS β-D-glucuronidase as only observed in a Eubacterium eligens plasmid. A conserved NH2-terminal sequence in the transporter (FGDFGND motif) was found in 83% of the disease-related subjects and only in 12% of controls. We propose a microbiota-pathology hypothesis in which the presence of this unique β-glucuronidase locus may contribute to an increase risk for Crohn’s disease. PMID:26824357

Blood Transcriptomic Comparison of Individuals with and without Autism Spectrum Disorder: A Combined-Samples Mega-Analysis

PubMed Central

Tylee, Daniel S.; Hess, Jonathan L.; Quinn, Thomas P.; Barve, Rahul; Huang, Hailiang; Zhang-James, Yanli; Chang, Jeffrey; Stamova, Boryana S.; Sharp, Frank R.; Hertz-Picciotto, Irva; Faraone, Stephen V.; Kong, Sek Won; Glatt, Stephen J.

2017-01-01

Blood-based microarray studies comparing individuals affected with autism spectrum disorder (ASD) and typically developing individuals help characterize differences in circulating immune cell functions and offer potential biomarker signal. We sought to combine the subject-level data from previously published studies by mega-analysis to increase the statistical power. We identified studies that compared ex-vivo blood or lymphocytes from ASD-affected individuals and unrelated comparison subjects using Affymetrix or Illumina array platforms. Raw microarray data and clinical meta-data were obtained from seven studies, totaling 626 affected and 447 comparison subjects. Microarray data were processed using uniform methods. Covariate-controlled mixed-effect linear models were used to identify gene transcripts and co-expression network modules that were significantly associated with diagnostic status. Permutation-based gene-set analysis was used to identify functionally related sets of genes that were over- and under-expressed among ASD samples. Our results were consistent with diminished interferon-, EGF-, PDGF-, PI3K-AKT-mTOR-, and RAS-MAPK-signaling cascades, and increased ribosomal translation and NK-cell related activity in ASD. We explored evidence for sex-differences in the ASD-related transcriptomic signature. We also demonstrated that machine-learning classifiers using blood transcriptome data perform with moderate accuracy when data are combined across studies. Comparing our results with those from blood-based studies of protein biomarkers (e.g., cytokines and trophic factors), we propose that ASD may feature decoupling between certain circulating signaling proteins (higher in ASD samples) and the transcriptional cascades which they typically elicit within circulating immune cells (lower in ASD samples). These findings provide insight into ASD-related transcriptional differences in circulating immune cells. PMID:27862943

Gene promoter methylation and DNA repair capacity in monozygotic twins with discordant smoking habits.

PubMed

Ottini, Laura; Rizzolo, Piera; Siniscalchi, Ester; Zijno, Andrea; Silvestri, Valentina; Crebelli, Riccardo; Marcon, Francesca

2015-02-01

The influence of DNA repair capacity, plasma nutrients and tobacco smoke exposure on DNA methylation was investigated in blood cells of twenty-one couples of monozygotic twins with discordant smoking habits. All study subjects had previously been characterized for mutagen sensitivity with challenge assays with ionizing radiation in peripheral blood lymphocytes. Plasma levels of folic acid, vitamin B12 and homocysteine were also available from a previous investigation. In this work DNA methylation in the promoter region of a panel of ten genes involved in cell cycle control, differentiation, apoptosis and DNA repair (p16, FHIT, RAR, CDH1, DAPK1, hTERT, RASSF1A, MGMT, BRCA1 and PALB2) was assessed in the same batches of cells isolated for previous studies, using the methylation-sensitive high-resolution melting technique. Fairly similar profiles of gene promoter methylation were observed within co-twins compared to unrelated subjects (p= 1.23 × 10(-7)), with no significant difference related to smoking habits (p = 0.23). In a regression analysis the methylation index of study subjects, used as synthetic descriptor of overall promoter methylation, displayed a significant inverse correlation with radiation-induced micronuclei (p = 0.021) and plasma folic acid level (p = 0.007) both in smokers and in non-smokers. The observed association between repair of radiation-induced DNA damage and promoter methylation suggests the involvement of the DNA repair machinery in DNA modification. Data also highlight the possible modulating effect of folate deficiency on DNA methylation and the strong influence of familiarity on the individual epigenetic profile. Copyright © 2015 Elsevier B.V. All rights reserved.

Demonstration of an anti-hyperalgesic effect of a novel pan-Trk inhibitor PF-06273340 in a battery of human evoked pain models.

PubMed

Loudon, Peter; Siebenga, Pieter; Gorman, Donal; Gore, Katrina; Dua, Pinky; van Amerongen, Guido; Hay, Justin L; Groeneveld, Geert Jan; Butt, Richard P

2018-02-01

Inhibitors of nerve growth factor (NGF) reduce pain in several chronic pain indications. NGF signals through tyrosine kinase receptors of the tropomyosin-related kinase (Trk) family and the unrelated p75 receptor. PF-06273340 is a small molecule inhibitor of Trks A, B and C that reduces pain in nonclinical models, and the present study aimed to investigate the pharmacodynamics of this first-in-class molecule in humans. A randomized, double-blind, single-dose, placebo- and active-controlled five-period crossover study was conducted in healthy human subjects (NCT02260947). Subjects received five treatments: PF-06273340 50 mg, PF-06273340 400 mg, pregabalin 300 mg, ibuprofen 600 mg and placebo. The five primary endpoints were the pain detection threshold for the thermal pain tests and the pain tolerance threshold for the cold pressor, electrical stair and pressure pain tests. The trial had predefined decision rules based on 95% confidence that the PF-06273340 effect was better than that of placebo. Twenty subjects entered the study, with 18 completing all five periods. The high dose of PF-06273340 met the decision rules on the ultraviolet (UV) B skin thermal pain endpoint [least squares (LS) mean vs. placebo: 1.13, 95% confidence interval: 0.64-1.61], but not on the other four primary endpoints. The low dose did not meet the decision criteria for any of the five primary endpoints. Pregabalin (cold pressor and electrical stair tests) and ibuprofen (UVB thermal pain) showed significant analgesic effects on expected endpoints. The study demonstrated, for the first time, the translation of nonclinical effects into man in an inflammatory pain analgesic pharmacodynamic endpoint using a pan-Trk inhibitor. © 2017 The British Pharmacological Society.

Effectiveness of monovalent rotavirus vaccine (Rotarix) against severe diarrhea caused by serotypically unrelated G2P[4] strains in Brazil.

PubMed

Correia, Jailson B; Patel, Manish M; Nakagomi, Osamu; Montenegro, Fernanda M U; Germano, Eliane M; Correia, Nancy B; Cuevas, Luis E; Parashar, Umesh D; Cunliffe, Nigel A; Nakagomi, Toyoko

2010-02-01

BACKGROUND. In a Latin American trial, a monovalent G1P[8] rotavirus vaccine showed high efficacy against severe rotavirus diarrhea. Protection was lower against serotypically unrelated G2P[4] strains, which circulated infrequently. This case-control study was undertaken to assess the effectiveness of this monovalent G1P[8] rotavirus vaccine against G2P[4] strains in Brazil. METHODS. Case patients were children with severe G2P[4] rotavirus diarrhea who presented at a hospital in Recife, Brazil, from March 2006 through September 2008. Vaccination rates among case patients were compared with rates among 2 groups of control participants-children with rotavirus-negative diarrhea and children admitted for acute respiratory tract infection (ARI)-to calculate vaccine effectiveness, after controlling for the birth month and year. RESULTS. We enrolled 70 G2P[4] rotavirus-positive case patients with severe diarrhea, 484 rotavirus-negative control participants with diarrhea, and 416 control participants with ARI, aged 6 months. Among children aged 6-11 months, the effectiveness of the vaccine against G2P[4] diarrhea was 77% (95% confidence interval [CI], 42%-91%) and 77% (95% CI, 43%-90%) among the rotavirus-negative control participants with diarrhea and control participants with ARI, respectively. Vaccine effectiveness in children aged 12 months decreased to -24% (95% CI, -190% to 47%) and 15% (95% CI, -101 to 64) among the rotavirus-negative control groups with diarrhea and ARI, respectively. CONCLUSIONS. This monovalent G1P[8] rotavirus vaccine was effective against severe G2P[4] rotavirus diarrhea among children aged 6-11 months. Effectiveness declined among children aged 12 months, which suggests waning immunity.

Association between the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor gamma gene and strength athlete status.

PubMed

Maciejewska-Karlowska, Agnieszka; Sawczuk, Marek; Cieszczyk, Pawel; Zarebska, Aleksandra; Sawczyn, Stanislaw

2013-01-01

The 12Ala allele of the Peroxisome Proliferator-Activated Receptor gamma gene (PPARG) Pro12Ala polymorphism produces a decreased binding affinity of the PPARγ2 protein, resulting in low activation of the target genes. The 12Ala allele carriers display a significantly improved insulin sensitivity that may result in better glucose utilisation in working skeletal muscles. We hypothesise that the PPARG 12Ala allele could be associated with strength athlete status in Polish athletes. The genotype distribution of PPARG Pro12Ala was examined in 660 Polish athletes. The athletes were stratified into four subgroups: endurance, strength-endurance, sprint-strength and strength. Control samples were prepared from 684 unrelated sedentary volunteers. A χ(2) test was used to compare the PPARG Pro12Ala allele and genotype frequencies between the different groups of athletes and control subjects. Bonferroni's correction for multiple testing was applied. A statistically significant higher frequency of PPARG 12Ala alleles was observed in the subgroup of strength athletes performing short-term and very intense exertion characterised by predominant anaerobic energy production (13.2% vs. 7.5% in controls; P = 0.0007). The PPARG 12Ala allele may be a relevant genetic factor favouring strength abilities in professional athletes, especially in terms of insulin-dependent metabolism, a shift of the energy balance towards glucose utilisation and the development of a favourable weight-to-strength ratio.

Topography of activation deficits in schizophrenia during P300 task related to cognition and structural connectivity.

PubMed

Molina, Vicente; Bachiller, Alejandro; de Luis, Rodrigo; Lubeiro, Alba; Poza, Jesús; Hornero, Roberto; Alonso, Joan Francesc; Mañanas, Miguel Angel; Marqués, Patricia; Romero, Sergio

2018-02-02

The study of cerebral underpinnings of schizophrenia may benefit from the high temporal resolution of electromagnetic techniques, but its spatial resolution is low. However, source imaging approaches such as low-resolution brain electromagnetic tomography (LORETA) allow for an acceptable compromise between spatial and temporal resolutions. We combined LORETA with 32 channels and 3-Tesla diffusion magnetic resonance (Dmr) to study cerebral dysfunction in 38 schizophrenia patients (17 first episodes, FE), compared to 53 healthy controls. The EEG was acquired with subjects performing an odd-ball task. Analyses included an adaptive window of interest to take into account the interindividual variability of P300 latency. We compared source activation patters to distractor (P3a) and target (P3b) tones within- and between-groups. Patients showed a reduced activation in anterior cingulate and lateral and medial prefrontal cortices, as well as inferior/orbital frontal regions. This was also found in the FE patients alone. The activation was directly related to IQ in the patients and controls and to working memory performance in controls. Symptoms were unrelated to source activation. Fractional anisotropy in the tracts connecting lateral prefrontal and anterior cingulate regions predicted source activation in these regions in the patients. These results replicate the source activation deficit found in a previous study with smaller sample size and a lower number of sensors and suggest an association between structural connectivity deficits and functional alterations.

Disturbed angiogenesis in systemic sclerosis: high levels of soluble endoglin.

PubMed

Wipff, J; Avouac, J; Borderie, D; Zerkak, D; Lemarechal, H; Kahan, A; Boileau, C; Allanore, Y

2008-07-01

SSc is a CTD characterized by early generalized microangiopathy with disturbed angiogenesis. Soluble endoglin (sENG), a serum anti-angiogenic protein, has recently been described as a major actor in pre-eclampsia, another severe vascular disease with abnormal angiogenesis. The aim of this study was to investigate, in a cross-sectional study, sENG levels together with other serum vascular markers. Serum levels of sENG were assessed by ELISA in consecutive SSc patients and controls matched for age and sex. We also measured by ELISA serum levels of VEGF and asymmetric dimethylarginine (ADMA), as respective markers of angiogenesis and endothelial dysfunction. We included 235 unrelated subjects: 187 SSc patients and 48 controls. Higher concentrations of sENG (P = 0.002) and sVEGF (P < 0.0001) were found in SSc patients compared with controls whereas there was no difference for ADMA. In multivariate analysis, sENG levels were significantly increased in SSc patients with cutaneous ulcerations (P = 0.0003), positive for ACAs (P = 0.009) and with abnormal diffusing capacity for carbon monoxide divided by alveolar volume (P = 0.03). Soluble ENG levels negatively correlated with ADMA, but no relationship was found between sENG and sVEGF. This study shows increased values of sENG in a large SSc cohort and a relevant association with a vascular phenotype. The predictive value of the biomarker sENG and its potential role on cellular endothelial disturbances remain to be determined.

26 CFR 1.105-3 - Payments unrelated to absence from work.

Code of Federal Regulations, 2010 CFR

2010-04-01

... 26 Internal Revenue 2 2010-04-01 2010-04-01 false Payments unrelated to absence from work. 1.105-3... Payments unrelated to absence from work. Section 105(c) provides an exclusion from gross income with... absent from work. Loss of use or disfigurement shall be considered permanent when it may reasonably be...

Memory and learning with rapid audiovisual sequences

PubMed Central

Keller, Arielle S.; Sekuler, Robert

2015-01-01

We examined short-term memory for sequences of visual stimuli embedded in varying multisensory contexts. In two experiments, subjects judged the structure of the visual sequences while disregarding concurrent, but task-irrelevant auditory sequences. Stimuli were eight-item sequences in which varying luminances and frequencies were presented concurrently and rapidly (at 8 Hz). Subjects judged whether the final four items in a visual sequence identically replicated the first four items. Luminances and frequencies in each sequence were either perceptually correlated (Congruent) or were unrelated to one another (Incongruent). Experiment 1 showed that, despite encouragement to ignore the auditory stream, subjects' categorization of visual sequences was strongly influenced by the accompanying auditory sequences. Moreover, this influence tracked the similarity between a stimulus's separate audio and visual sequences, demonstrating that task-irrelevant auditory sequences underwent a considerable degree of processing. Using a variant of Hebb's repetition design, Experiment 2 compared musically trained subjects and subjects who had little or no musical training on the same task as used in Experiment 1. Test sequences included some that intermittently and randomly recurred, which produced better performance than sequences that were generated anew for each trial. The auditory component of a recurring audiovisual sequence influenced musically trained subjects more than it did other subjects. This result demonstrates that stimulus-selective, task-irrelevant learning of sequences can occur even when such learning is an incidental by-product of the task being performed. PMID:26575193

Memory and learning with rapid audiovisual sequences.

PubMed

Keller, Arielle S; Sekuler, Robert

2015-01-01

We examined short-term memory for sequences of visual stimuli embedded in varying multisensory contexts. In two experiments, subjects judged the structure of the visual sequences while disregarding concurrent, but task-irrelevant auditory sequences. Stimuli were eight-item sequences in which varying luminances and frequencies were presented concurrently and rapidly (at 8 Hz). Subjects judged whether the final four items in a visual sequence identically replicated the first four items. Luminances and frequencies in each sequence were either perceptually correlated (Congruent) or were unrelated to one another (Incongruent). Experiment 1 showed that, despite encouragement to ignore the auditory stream, subjects' categorization of visual sequences was strongly influenced by the accompanying auditory sequences. Moreover, this influence tracked the similarity between a stimulus's separate audio and visual sequences, demonstrating that task-irrelevant auditory sequences underwent a considerable degree of processing. Using a variant of Hebb's repetition design, Experiment 2 compared musically trained subjects and subjects who had little or no musical training on the same task as used in Experiment 1. Test sequences included some that intermittently and randomly recurred, which produced better performance than sequences that were generated anew for each trial. The auditory component of a recurring audiovisual sequence influenced musically trained subjects more than it did other subjects. This result demonstrates that stimulus-selective, task-irrelevant learning of sequences can occur even when such learning is an incidental by-product of the task being performed.

How the economic recession has changed the likelihood of reporting poor self-rated health in Spain.

PubMed

Arroyo, Elena; Renart, Gemma; Saez, Marc

2015-12-18

Between 2006 and 2011 self-rated health (SRH) (the subjective report of an individual's health status) actually improved in Spain despite its being in the grips of a serious economic recession. This study examines whether the likelihood of reporting poor health has changed because of the global financial crisis. It also attempts to estimate the differences between SRH and other self-perceived measures of health among groups before and during the current economic crisis in Spain. Cross-sectional population-based surveys were conducted in Spain (ENSE 2006 and ENSE 2011) and in Catalonia (ESCA 2006 and ESCA 2011) in 2006 and again in 2011. In this research work we have used random effects logistic models (dependent variable SRH 1 Poor, 0 Good) and exact matching and propensity score-matching. The results of the ENSE explanatory variables are the same in both 2006 and 2011. In other words, all diseases negatively affect SRH, whereas alcohol habits positively affect SRH and obesity is the only disease unrelated to SRH. ESCA explanatory variables' results show that in 2006 all diseases are significant and have large odds ratio (OR) and consequently those individuals suffering from any of these diseases are more likely to report poor health. In 2011 the same pattern follows with the exception of allergies, obesity, high cholesterol and hypertension, albeit they are not statistically significant. Drinking habits had a positive effect on SRH in 2006 and 2011, whereas smoking is considered as unrelated to SRH. The likelihood of reporting poor health in 2006 is added as a variable in with the logistic regression of 2011 and is not, in either the ENSE data or the ESCA data, significant. Furthermore, neither is it significant when controlling by age, gender, employment status or education. The results of our analysis show that the financial crisis did not alter the likelihood of reporting poor health in 2011. Therefore, there are no differences between our perceived health in either 2006 or in 2011.

Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.

PubMed

Rodriguez, Gabriela; Ueyama, Tomomi; Ogata, Takehiro; Czernuszewicz, Grazyna; Tan, Yanli; Dorn, Gerald W; Bogaev, Roberta; Amano, Katsuya; Oh, Hidemasa; Matsubara, Hiroaki; Willerson, James T; Marian, Ali J

2011-08-01

Dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) are classic forms of systolic and diastolic heart failure, respectively. Mutations in genes encoding sarcomere and cytoskeletal proteins are major causes of HCM and DCM. MURC, encoding muscle-restricted coiled-coil, a Z-line protein, regulates cardiac function in mice. We investigated potential causal role of MURC in human cardiomyopathies. We sequenced MURC in 1199 individuals, including 383 probands with DCM, 307 with HCM, and 509 healthy control subjects. We found 6 heterozygous DCM-specific missense variants (p.N128K, p.R140W, p.L153P, p.S307T, p.P324L, and p.S364L) in 8 unrelated probands. Variants p.N128K and p.S307T segregated with inheritance of DCM in small families (χ(2)=8.5, P=0.003). Variants p.N128K, p.R140W, p.L153P, and p.S364L were considered probably or possibly damaging. Variant p.P324L recurred in 3 independent probands, including 1 proband with a TPM1 mutation (p.M245T). A deletion variant (p.L232-R238del) was present in 3 unrelated HCM probands, but it did not segregate with HCM in a family who also had a MYH7 mutation (p.L907V). The phenotype in mutation carriers was notable for progressive heart failure leading to heart transplantation in 4 patients, conduction defects, and atrial arrhythmias. Expression of mutant MURC proteins in neonatal rat cardiac myocytes transduced with recombinant adenoviruses was associated with reduced RhoA activity, lower mRNA levels of hypertrophic markers and smaller myocyte size as compared with wild-type MURC. MURC mutations impart loss-of-function effects on MURC functions and probably are causal variants in human DCM. The causal role of a deletion mutation in HCM is uncertain.

The cell cycle and acute kidney injury

PubMed Central

Price, Peter M.; Safirstein, Robert L.; Megyesi, Judit

2009-01-01

Acute kidney injury (AKI) activates pathways of cell death and cell proliferation. Although seemingly discrete and unrelated mechanisms, these pathways can now be shown to be connected and even to be controlled by similar pathways. The dependence of the severity of renal-cell injury on cell cycle pathways can be used to control and perhaps to prevent acute kidney injury. This review is written to address the correlation between cellular life and death in kidney tubules, especially in acute kidney injury. PMID:19536080

The Relationship between Neighborhood Characteristics and Effective Parenting Behaviors: The Role of Social Support.

PubMed

Byrnes, Hilary F; Miller, Brenda A

2012-12-01

Neighborhood characteristics have been linked to healthy behavior, including effective parenting behaviors. This may be partially explained through the neighborhood's relation to parents' access to social support from friends and family. The current study examined associations of neighborhood characteristics with parenting behaviors indirectly through social support. The sample included 614 mothers of 11-12 year old youths enrolled in a health care system in the San Francisco area. Structural equations modeling shows that neighborhood perceptions were related to parenting behaviors, indirectly through social support, while archival census neighborhood indicators were unrelated to social support and parenting. Perceived neighborhood social cohesion and control were related to greater social support, which was related to more effective parenting style, parent-child communication, and monitoring. Perceived neighborhood disorganization was unrelated to social support. Prevention strategies should focus on helping parents build a social support network that can act as a resource in times of need.

Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

PubMed

Luo, Xiaomei; Zou, Yongyi; Tan, Bo; Zhang, Yue; Guo, Jing; Zeng, Lanlan; Zhang, Rui; Tan, Hu; Wei, Xianda; Hu, Yiqiao; Zheng, Yu; Liang, Desheng; Wu, Lingqian

2017-04-01

GATA zinc finger domain-containing 2B (GATAD2B) is a subunit of the methyl-CpG-binding protein-1 complex (MECP1), which deacetylates methylated nucleosomes and regresses transcriptional activity. Recently, GATAD2B has been elucidated as a candidate gene in patients with intellectual disability (ID). In this study, we identified two novel heterozygous frameshift mutations of GATAD2B in two unrelated ID cases through next-generation sequencing (NGS). Both of the mutations c.80_81insGATGT and c.552_555delGAAA cause truncated proteins that might be detrimental to neurodevelopment. We performed western blotting and observed a reduction in the target protein compared with normal controls. This is the first report of GATAD2B in Chinese ID patients. Our findings will broaden the spectrum of GATAD2B mutations and facilitate genetic diagnosis and counseling.

Embodied effects of conceptual knowledge continuously perturb the hand in flight.

PubMed

Till, Bernie C; Masson, Michael E J; Bub, Daniel N; Driessen, Peter F

2014-08-01

Attending to a manipulable object evokes a mental representation of hand actions associated with the object's form and function. In one view, these representations are sufficiently abstract that their competing influence on an unrelated action is confined to the planning stages of movement and does not affect its on-line control. Alternatively, an object may evoke action representations that affect the entire trajectory of an unrelated grasping action. We developed a new methodology to statistically analyze the forward motion and rotation of the hand and fingers under different task conditions. Using this novel approach, we established that a grasping action executed after seeing a photograph of an object is systematically perturbed even into the late stages of its trajectory by the competing influence of the grasping posture associated with the object. Our results show that embodied effects of conceptual knowledge continuously modulate the hand in flight. © The Author(s) 2014.

26 CFR 1.513-2 - Definition of unrelated trade or business applicable to taxable years beginning before December...

Code of Federal Regulations, 2010 CFR

2010-04-01

... 26 Internal Revenue 7 2010-04-01 2010-04-01 true Definition of unrelated trade or business... (CONTINUED) Taxation of Business Income of Certain Exempt Organizations § 1.513-2 Definition of unrelated trade or business applicable to taxable years beginning before December 13, 1967. (a) In general. (1) As...

26 CFR 1.513-5 - Certain bingo games not unrelated trade or business.

Code of Federal Regulations, 2013 CFR

2013-04-01

... 26 Internal Revenue 7 2013-04-01 2013-04-01 false Certain bingo games not unrelated trade or... Organizations § 1.513-5 Certain bingo games not unrelated trade or business. (a) In general. Under section 513(f... or business that consists of conducting bingo games (as defined in paragraph (d) of this section). (b...

26 CFR 1.513-5 - Certain bingo games not unrelated trade or business.

Code of Federal Regulations, 2012 CFR

2012-04-01

... 26 Internal Revenue 7 2012-04-01 2012-04-01 false Certain bingo games not unrelated trade or... Organizations § 1.513-5 Certain bingo games not unrelated trade or business. (a) In general. Under section 513(f... or business that consists of conducting bingo games (as defined in paragraph (d) of this section). (b...

26 CFR 1.513-5 - Certain bingo games not unrelated trade or business.

Code of Federal Regulations, 2014 CFR

2014-04-01

... 26 Internal Revenue 7 2014-04-01 2013-04-01 true Certain bingo games not unrelated trade or... Organizations § 1.513-5 Certain bingo games not unrelated trade or business. (a) In general. Under section 513(f... or business that consists of conducting bingo games (as defined in paragraph (d) of this section). (b...

26 CFR 1.513-5 - Certain bingo games not unrelated trade or business.

Code of Federal Regulations, 2011 CFR

2011-04-01

... 26 Internal Revenue 7 2011-04-01 2009-04-01 true Certain bingo games not unrelated trade or... Organizations § 1.513-5 Certain bingo games not unrelated trade or business. (a) In general. Under section 513(f... or business that consists of conducting bingo games (as defined in paragraph (d) of this section). (b...

26 CFR 1.513-5 - Certain bingo games not unrelated trade or business.

Code of Federal Regulations, 2010 CFR

2010-04-01

... 26 Internal Revenue 7 2010-04-01 2010-04-01 true Certain bingo games not unrelated trade or... Organizations § 1.513-5 Certain bingo games not unrelated trade or business. (a) In general. Under section 513(f... or business that consists of conducting bingo games (as defined in paragraph (d) of this section). (b...

26 CFR 1.512(a)-5T - Questions and answers relating to the unrelated business taxable income of organizations...

Code of Federal Regulations, 2010 CFR

2010-04-01

... 26 Internal Revenue 7 2010-04-01 2010-04-01 true Questions and answers relating to the unrelated... TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES (CONTINUED) Taxation of Business Income of Certain Exempt Organizations § 1.512(a)-5T Questions and answers relating to the unrelated business taxable...

Proteomic identification of plant proteins probed by mammalian nitric oxide synthase antibodies.

PubMed

Butt, Yoki Kwok-Chu; Lum, John Hon-Kei; Lo, Samuel Chun-Lap

2003-03-01

Several studies suggest that a mammalian-like nitric oxide synthase (NOS) exists in plants. Researchers have attempted to verify its presence using two approaches: (i) determination of NOS functional activity and (ii) probing with mammalian NOS antibodies. However, up to now, neither a NOS-like gene nor a protein has been found in plants. While there is still some controversy over whether the NOS functional activity seen is due to nitrate reductase, using the mammalian NOS antibodies in western blot analysis, several groups have reported the presence of immunoreactive protein bands in plant homogenates. Based on these results, immunohistochemical studies using these antibodies have also been used to localize NOS in plant tissues. However, plant NOS has never been positively identified or characterized. Thus, we used a proteomic approach to verify the identities of plant proteins that cross-reacted with the mammalian NOS antibodies. Proteins extracted from maize (Zea mays L.) embryonic axes were separated by two-dimensional gel electrophoresis and subjected to western blot analysis with the mammalian neuronal NOS and inducible NOS antibodies. Twenty immunoreactive protein spots recognized on a corresponding Coomassie blue-stained two-dimensional gel were subjected to tryptic digestion, followed by identification using matrix-assisted laser desorption/ionization-time of flight mass spectrometry. Fifteen proteins were successfully identified and they have described functions that are unrelated to NO metabolism. The remaining five proteins could not be identified. The amino acid sequences of these identified proteins and those used to raise the antibodies were aligned. However, no homologous region could be found. Our results demonstrate that the mammalian NOS antibodies recognize many NOS-unrelated plant proteins. Therefore, it is inappropriate to infer the presence of plant NOS using this immunological technique.

Posttraumatic Stress in Survivors 1 Month to 19 Years after an Airliner Emergency Landing

PubMed Central

Arnberg, Filip K.; Michel, Per-Olof; Lundin, Tom

2015-01-01

Posttraumatic stress (PTS) is common in survivors from life-threatening events. Little is known, however, about the course of PTS after life threat in the absence of collateral stressors (e.g., bereavement, social stigma, property loss) and there is a scarcity of studies about PTS in the long term. This study assessed the short- and long-term course of PTS, and the influence of gender, education and age on the level and course of PTS, in survivors from a non-fatal airliner emergency landing caused by engine failure at an altitude of 1 km. There were 129 persons on board. A survey including the Impact of Event Scale was distributed to 106 subjects after 1 month, 4 months, 14 months, and 25 months, and to 95 subjects after 19 years (response rates 64–83%). There were initially high levels of PTS. The majority of changes in PTS occurred from 1 to 4 months after the event. There were small changes from 4 to 25 months but further decrease in PTS thereafter. Female gender was associated with higher levels of PTS whereas gender was unrelated to the slope of the short- and long-term trajectories. Higher education was related to a quicker recovery although not to initial or long-term PTS. Age was not associated with PTS. The present findings suggest that a life-threatening experience without collateral stressors may produce high levels of acute posttraumatic stress, yet with a benign prognosis. The findings further implicate that gender is unrelated to trajectories of recovery in the context of highly similar exposure and few collateral stressors. PMID:25734536

Effects of parallel planning on agreement production.

PubMed

Veenstra, Alma; Meyer, Antje S; Acheson, Daniel J

2015-11-01

An important issue in current psycholinguistics is how the time course of utterance planning affects the generation of grammatical structures. The current study investigated the influence of parallel activation of the components of complex noun phrases on the generation of subject-verb agreement. Specifically, the lexical interference account (Gillespie & Pearlmutter, 2011b; Solomon & Pearlmutter, 2004) predicts more agreement errors (i.e., attraction) for subject phrases in which the head and local noun mismatch in number (e.g., the apple next to the pears) when nouns are planned in parallel than when they are planned in sequence. We used a speeded picture description task that yielded sentences such as the apple next to the pears is red. The objects mentioned in the noun phrase were either semantically related or unrelated. To induce agreement errors, pictures sometimes mismatched in number. In order to manipulate the likelihood of parallel processing of the objects and to test the hypothesized relationship between parallel processing and the rate of agreement errors, the pictures were either placed close together or far apart. Analyses of the participants' eye movements and speech onset latencies indicated slower processing of the first object and stronger interference from the related (compared to the unrelated) second object in the close than in the far condition. Analyses of the agreement errors yielded an attraction effect, with more errors in mismatching than in matching conditions. However, the magnitude of the attraction effect did not differ across the close and far conditions. Thus, spatial proximity encouraged parallel processing of the pictures, which led to interference of the associated conceptual and/or lexical representation, but, contrary to the prediction, it did not lead to more attraction errors. Copyright © 2015 Elsevier B.V. All rights reserved.

A Mutation in TTF1/NKX2.1 Is Associated With Familial Neuroendocrine Cell Hyperplasia of Infancy

PubMed Central

Young, Lisa R.; Deutsch, Gail H.; Bokulic, Ronald E.; Brody, Alan S.

2013-01-01

Background: Neuroendocrine cell hyperplasia of infancy (NEHI) is a childhood diffuse lung disease of unknown etiology. We investigated the mechanism for lung disease in a subject whose clinical, imaging, and lung biopsy specimen findings were consistent with NEHI; the subject’s extended family and eight other unrelated patients with NEHI were also investigated. Methods: The proband’s lung biopsy specimen (at age 7 months) and serial CT scans were diagnostic of NEHI. Her mother, an aunt, an uncle, and two first cousins had failure to thrive in infancy and chronic respiratory symptoms that improved with age. Genes associated with autosomal-dominant forms of childhood interstitial lung disease were sequenced. Results: A heterozygous NKX2.1 mutation was identified in the proband and the four other adult family members with histories of childhood lung disease. The mutation results in a nonconservative amino acid substitution in the homeodomain in a codon extensively conserved through evolution. None of these individuals have thyroid disease or movement disorders. NKX2.1 mutations were not identified by sequence analysis in eight other unrelated subjects with NEHI. Conclusions: The nature of the mutation and its segregation with disease support that it is disease-causing. Previously reported NKX2.1 mutations have been associated with “brain-thyroid-lung” syndrome and a spectrum of more severe pulmonary phenotypes. We conclude that genetic mechanisms may cause NEHI and that NKX2.1 mutations may result in, but are not the predominant cause of, this phenotype. We speculate that altered expression of NKX2.1 target genes other than those in the surfactant system may be responsible for the pulmonary pathophysiology of NEHI. PMID:23787483

A Large Cohort of Hemoglobin Variants in Thailand: Molecular Epidemiological Study and Diagnostic Consideration

PubMed Central

Srivorakun, Hataichanok; Singha, Kritsada; Fucharoen, Goonnapa; Sanchaisuriya, Kanokwan; Fucharoen, Supan

2014-01-01

Background Hemoglobin (Hb) variants are structurally inherited changes of globin chains. Accurate diagnoses of these variants are important for planning of appropriate management and genetic counseling. Since no epidemiological study has been conducted before, we have investigated frequencies, molecular and hematological features of Hb variants found in a large cohort of Thai subjects. Materials and Methods Study was conducted on 26,013 unrelated subjects, inhabiting in all geographical parts of Thailand over a period of 11 years from January 2002-December 2012. Hb analysis was done on high performance liquid chromatography (HPLC) or capillary electrophoresis (CE). Mutations causing Hb variants were identified using PCR and related techniques. Results Among 26,013 subjects investigated, 636 (2.4%) were found to carry Hb variants. Of these 636 subjects, 142 (22.4%) carried α-chain variants with 13 different mutations. The remaining included 451 (70.9%) cases with 16 β-chain variants, 37 (5.8%) cases with Hb Lepore (δβ-hybrid Hb) and 6 (0.9%) cases with a single δ-chain variant. The most common α-globin chain variant was the Hb Q-Thailand (α74GAC-CAC, Asp-His) which was found in 101 cases (15.8%). For β-globin chain variants, Hb Hope (β136GGT-GAT, Gly-Asp) and Hb Tak (β146+AC, Ter-Thr) are the two most common ones, found in 121 (19.0%) and 90 (14.2%) cases, respectively. Seven Hb variants have never been found in Thai population. Hb analysis profiles on HPLC or CE of these variants were illustrated to guide presumptive diagnostics. Conclusions Hb variants are common and heterogeneous in Thai population. With varieties of thalassemias and hemoglobinopathies in the population, interactions between them leading to complex syndromes are common and render their diagnoses difficult in routine practices. Knowledge of the spectrum, molecular basis, genotype-phenotype correlation and diagnostic features should prove useful for prevention and control of the diseases in the region. PMID:25244406

Haploidentical transplant with posttransplant cyclophosphamide vs matched unrelated donor transplant for acute myeloid leukemia

PubMed Central

Zhang, Mei-Jie; Bacigalupo, Andrea A.; Bashey, Asad; Appelbaum, Frederick R.; Aljitawi, Omar S.; Armand, Philippe; Antin, Joseph H.; Chen, Junfang; Devine, Steven M.; Fowler, Daniel H.; Luznik, Leo; Nakamura, Ryotaro; O’Donnell, Paul V.; Perales, Miguel-Angel; Pingali, Sai Ravi; Porter, David L.; Riches, Marcie R.; Ringdén, Olle T. H.; Rocha, Vanderson; Vij, Ravi; Weisdorf, Daniel J.; Champlin, Richard E.; Horowitz, Mary M.; Fuchs, Ephraim J.; Eapen, Mary

2015-01-01

We studied adults with acute myeloid leukemia (AML) after haploidentical (n = 192) and 8/8 HLA-matched unrelated donor (n = 1982) transplantation. Haploidentical recipients received calcineurin inhibitor (CNI), mycophenolate, and posttransplant cyclophosphamide for graft-versus-host disease (GVHD) prophylaxis; 104 patients received myeloablative and 88 received reduced intensity conditioning regimens. Matched unrelated donor transplant recipients received CNI with mycophenolate or methotrexate for GVHD prophylaxis; 1245 patients received myeloablative and 737 received reduced intensity conditioning regimens. In the myeloablative setting, day 30 neutrophil recovery was lower after haploidentical compared with matched unrelated donor transplants (90% vs 97%, P = .02). Corresponding rates after reduced intensity conditioning transplants were 93% and 96% (P = .25). In the myeloablative setting, 3-month acute grade 2-4 (16% vs 33%, P < .0001) and 3-year chronic GVHD (30% vs 53%, P < .0001) were lower after haploidentical compared with matched unrelated donor transplants. Similar differences were observed after reduced intensity conditioning transplants, 19% vs 28% (P = .05) and 34% vs 52% (P = .002). Among patients receiving myeloablative regimens, 3-year probabilities of overall survival were 45% (95% CI, 36-54) and 50% (95% CI, 47-53) after haploidentical and matched unrelated donor transplants (P = .38). Corresponding rates after reduced intensity conditioning transplants were 46% (95% CI, 35-56) and 44% (95% CI, 0.40-47) (P = .71). Although statistical power is limited, these data suggests that survival for patients with AML after haploidentical transplantation with posttransplant cyclophosphamide is comparable with matched unrelated donor transplantation. PMID:26130705

No association between the TaqI A1 RFLP of the D2 receptor gene and alcoholism in a Mexican population

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

Cruz-Fuentes, C.; Carmarena, B.; Eroza, V.

1994-09-01

The suggested association of the A1 allele of the D2 dopamine receptor (DRD2) human gene with alcoholism was studied by comparing the DRD2/TaqI genotypes of 36 healthy controls and 38 individuals who met the DSM-III-R diagnostic criteria for alcohol dependence. All subjects were unrelated, with parents and grandparents of Mexican origin. The alcoholics in our sample suffered one of the following conditions: delirium tremens (16.6%), alcohol hallucinosis (56.6%) or uncomplicated alcohol withdrawal (26.4%). Eight-eight percent of the controls carried the A1 allele. The frequency of the DRD2 A1 allele in the Mexican urban sample (pA1 = 0.61) was 2 tomore » 3-fold higher than reported in Caucasian populations from the USA and Europe, but similar to the allele frequencies found in defined Amerindian populations. There were not significant differences in the prevalence or allele frequency between alcoholics (pA1 = 0.64) and controls, regardless if the alcoholics were subtyped accordingly to severity, age of onset or positive family history. Alcoholics had higher scores than controls in the neuroticism (N) and psychoticism (P) subscales on the Eysenck personality test: alcoholics P = 6.2 {+-} 2.9, N = 16.0 {+-} 4.2 vs. controls P = 2.5 {+-} 2.3, N = 5.7 {+-} 5.1; p<0.001 and p<0.001, respectively. However, no relationship between personality traits and genotypes was found. Our results do not support a consistent association between the TaqI A1 RFLP for the DRD2 gene and alcoholism.« less

Correlation between the NPPB gene promoter c.-1298 G/T polymorphism site and pulse pressure in the Chinese Han population.

PubMed

Zeng, K; Wu, X D; Cai, H D; Gao, Y G; Li, G; Liu, Q C; Gao, F; Chen, J H; Lin, C Z

2014-04-29

The aim of this study was to investigate the correlation between the natriuretic peptide precursor B (NPPB) gene single nucleotide polymorphism (SNP) c.-1298 G/T and pulse pressure (PP) of the Chinese Han population and the association between genotype and clinical indicators of hypertension. Peripheral blood was collected from 180 unrelated patients with hypertension and 540 healthy volunteers (control group), and DNA was extracted to amplify the 5'-flanking region and 2 exons of the NPPB gene by polymerase chain reaction; the fragment was sequenced after purification. The clinical data of all subjects were recorded, the distribution of the NPPB gene c.-1298 G/T polymorphism was determined, and differences in clinical indicators between the two groups were evaluated. The mean arterial pressure PP, and creatinine levels were significantly higher in the hypertension group than in the control group (P<0.05), but no other clinical indicators differed between the groups. There were no significant differences in genotype frequency and distribution of the NPPB gene c.-1298 G/T polymorphism between the hypertension group and the control group (P>0.05); in the control group, the mean PP of individuals with the SNP c.-1298 GG genotype was greater than that of individuals with the GT+TT genotype (P<0.05). In conclusion, there was no significant correlation between the NPPB gene c.-1298 G/T polymorphism and the incidence of essential hypertension in the Han population; however, the PP of the SNP c.-1298 GG genotype was greater than that of the GT+TT genotype in the control group.

Use of categorical and individuating information in making inferences about personality.

PubMed

Krueger, J; Rothbart, M

1988-08-01

In three experiments, we explored the effects of categorical information (stereotypes) and case information (traits or behaviors) on judgments about an individual's characteristics. Subjects judged a target person's aggressiveness on the basis of a description containing both a broad social category and specific case information. In Experiment 1, the description included (a) a category that was either weakly or strongly related to aggressiveness and (b) a behavior that was unrelated, moderately diagnostic, or highly diagnostic of aggressiveness. Trait inferences were a function of both the stereotypic and the behavioral information. A single behavior was not sufficient to override the category effect. In Experiment 2, temporally consistent behaviors were presented as case information; under these conditions, category information had no effect on trait judgements. This finding was extended in Experiment 3 in which subjects predicted behaviors on the basis of the target person's sex and a moderately diagnostic trait.

Associative false consumer memory: effects of need for cognition and encoding task.

PubMed

Parker, Andrew; Dagnall, Neil

2018-04-01

Two experiments investigated the effects of product-attribute associations on false consumer memory. In both experiments, subjects were presented with sets of related product attributes under incidental encoding conditions. Later, recognition memory was tested with studied attributes, non-studied but associated attributes (critical lures) and non-studied unrelated attributes. In Experiment 1, the effect of Need for Cognition (NFC) was assessed. It was found that individuals high in NFC recognised more presented attributes and falsely recognised more associative critical lures. The increase in both true and associative false memory was accompanied by a greater number of responses that index the retrieval of detailed episodic-like information. Experiment 2, replicated the main findings through an experimental manipulation of the encoding task that required subjects to consider purchase likelihood. Explanations for these findings are considered from the perspective of activation processes and knowledge structures in the form of gist-based representations.

Intuitive reasoning about abstract and familiar physics problems

NASA Technical Reports Server (NTRS)

Kaiser, Mary Kister; Jonides, John; Alexander, Joanne

1986-01-01

Previous research has demonstrated that many people have misconceptions about basic properties of motion. Two experiments examined whether people are more likely to produce dynamically correct predictions about basic motion problems involving situations with which they are familiar, and whether solving such problems enhances performance on a subsequent abstract problem. In experiment 1, college students were asked to predict the trajectories of objects exiting a curved tube. Subjects were more accurate on the familiar version of the problem, and there was no evidence of transfer to the abstract problem. In experiment 2, two familiar problems were provided in an attempt to enhance subjects' tendency to extract the general structure of the problems. Once again, they gave more correct responses to the familiar problems but failed to generalize to the abstract problem. Formal physics training was associated with correct predictions for the abstract problem but was unrelated to performance on the familiar problems.

Response strategies in list learning by orangutans (Pongo pygmaeus x P. abelii).

PubMed

Swartz, Karyl B; Himmanen, Sharon A; Shumaker, Robert W

2007-08-01

Rhesus monkeys (Macaca mulatta) develop strategies to acquire and execute serial lists (K. B. Swartz & S. A. Himmanen, 2001). Serial probe recognition studies of list memory have demonstrated similarities across monkeys and humans (S. F. Sands & A. A. Wright, 1980). The present study extended the investigation of list learning and memory to determine whether orangutans (Pongo pygmaeus x P. abelii) would show evidence of subjective organization of photographic lists in a manner similar to that shown by humans learning a list of unrelated words (E. Tulving, 1962). No evidence for the effective use of a subjective organization strategy was found, but the orangutans developed a right-to-left spatial response strategy, which emerged during the acquisition of 5-item lists. This strategy was an effective way to reduce the load on working memory when presented with a complex array of items.

A comparison of between- and within-subjects imitation designs.

PubMed

Kressley, Regina A; Knopf, Monika

2006-12-01

Two experimental methods, which have dominated the study of declarative memory in preverbal children with imitation tasks, namely the deferred imitation and elicited imitation paradigm, differ in the amount of physical contact with test stimuli afforded infants prior to a test for long-term recall. The current study assessed effects of pre- and post-demonstration contact with test stimuli on deferred imitation of novel, single-step unrelated actions with multiple objects by 8(1/2)- and 10(1/2)-month-old infants (N=50). The rate of target action completion after a delay remained consistent at both ages across different conditions of prior contact with test stimuli. This study shows that a within-subjects baseline appraisal is valid within certain experimental parameters and offers a more economical alternative. The results show furthermore that different experimental designs utilized to assess deferred imitation are highly comparable for the first year despite differences in determining baseline.