Infantile methemoglobinemia: reexamining the role of drinking water nitrates.

PubMed

Avery, A A

1999-07-01

Ingestion of nitrates in drinking water has long been thought to be a primary cause of acquired infantile methemoglobinemia, often called blue baby syndrome. However, recent research and a review of historical cases offer a more complex picture of the causes of infantile methemoglobinemia. Gastrointestinal infection and inflammation and the ensuing overproduction of nitric oxide may be the cause of many cases of infantile methemoglobinemia previously attributed to drinking water nitrates. If so, current limits on allowable levels of nitrates in drinking water, which are based solely on the health threat of infantile methemoglobinemia, may be unnecessarily strict.

Neonatal jaundice: a risk factor for infantile autism?

PubMed

Maimburg, Rikke Damkjaer; Vaeth, Michael; Schendel, Diana Elizabeth; Bech, Bodil Hammer; Olsen, Jørn; Thorsen, Poul

2008-11-01

In a previous study, we found that infants transferred to a neonatal ward after delivery had an almost twofold increased risk of being diagnosed with infantile autism later in childhood in spite of extensive controlling of obstetric risk factors. We therefore decided to investigate other reasons for transfer to a neonatal ward, in particular hyperbilirubinaemia and neurological abnormalities. We conducted a population-based matched case-control study of 473 children with autism and 473 matched controls born from 1990 to 1999 in Denmark. Cases were children reported with a diagnosis of infantile autism in the Danish Psychiatric Central Register. Conditional logistic regression was used to calculate odds ratios (OR) and 95% confidence intervals [CI] and likelihood ratio tests were used to test for effect modification. We found an almost fourfold risk for infantile autism in infants who had hyperbilirubinaemia after birth (OR 3.7 [95% CI 1.3, 10.5]). In stratified analysis, the association appeared limited to term infants (>or=37 weeks gestation). A strong association was also observed between abnormal neurological signs after birth and infantile autism, especially hypertonicity (OR 6.7 [95% CI 1.5, 29.7]). No associations were found between infantile autism and low Apgar scores, acidosis or hypoglycaemia. Our findings suggest that hyperbilirubinaemia and neurological abnormalities in the neonatal period are important factors to consider when studying causes of infantile autism.

Part Two: Infantile Spasms--The New Consensus

ERIC Educational Resources Information Center

Pellock, John M.; O'Hara, Kathryn

2011-01-01

This article presents the conclusion made by the consensus group regarding infantile spasms. The consensus group concluded that "infantile spasms are a major form of severe epileptic encephalopathy of early childhood that results in neurodevelopmental regression and imposes a significant health burden." The entire group agrees that the best…

Infantile methemoglobinemia: reexamining the role of drinking water nitrates.

PubMed Central

Avery, A A

1999-01-01

Ingestion of nitrates in drinking water has long been thought to be a primary cause of acquired infantile methemoglobinemia, often called blue baby syndrome. However, recent research and a review of historical cases offer a more complex picture of the causes of infantile methemoglobinemia. Gastrointestinal infection and inflammation and the ensuing overproduction of nitric oxide may be the cause of many cases of infantile methemoglobinemia previously attributed to drinking water nitrates. If so, current limits on allowable levels of nitrates in drinking water, which are based solely on the health threat of infantile methemoglobinemia, may be unnecessarily strict. Images Figure 1 Figure 2 PMID:10379005

The association between infantile postural asymmetry and unsettled behaviour in babies.

PubMed

Ellwood, Julie; Ford, Michael; Nicholson, Alf

2017-12-01

Unsettled infant behaviour is a common problem of infancy without known aetiology or clearly effective management. Some manual therapists propose that musculoskeletal dysfunction contributes to unsettled infant behaviour, yet reported improvement following treatment is anecdotal. The infantile postural asymmetry measurement scale is a tool which measures infantile asymmetry, a form of musculoskeletal dysfunction. The first part of the study aimed to investigate its reliability and validity for measuring infantile postural asymmetry. This study also aimed to investigate whether there was an association between infantile postural asymmetry and unsettled infant behaviour and whether an association was mediated by, or confounded with, the demographic variables of age, sex, parity, birth weight and weight gain in 12- to 16-week-old infants. Fifty-eight infants were recruited and a quantitative cross-sectional observational design was used. An association between unsettled behaviour and infantile postural asymmetry was not found. A significant difference between high and low cervical rotation deficit groups for surgency was detected in female babies and needs further examination. Questions remain regarding the construct validity of the infantile postural asymmetry scale. No association between unsettled infant behaviour and infantile postural asymmetry was found in 12- to 16-week-old infants. The influence of sex on the interaction between infantile postural asymmetry and infant behaviour needs further examination. An association between unsettled infant behaviour and infantile postural asymmetry is still unproven. What is known: • Unsettled infant behaviour has a considerable impact on many family situations. • Identifying a definitive cause has been a source of much examination and research. Many different hypotheses have been suggested yet much is still unknown. What is new: • The association between unsettled infant behaviour and infantile postural asymmetry is

Extraocular Muscles in Patients With Infantile Nystagmus

PubMed Central

Berg, Kathleen T.; Hunter, David G.; Bothun, Erick D.; Antunes-Foschini, Rosalia; McLoon, Linda K.

2013-01-01

Objective To test the hypothesis that the extraocular muscles (EOMs) of patients with infantile nystagmus have muscular and innervational adaptations that may have a role in the involuntary oscillations of the eyes. Methods Specimens of EOMs from 10 patients with infantile nystagmus and postmortem specimens from 10 control subjects were prepared for histologic examination. The following variables were quantified: mean myofiber cross-sectional area, myofiber central nucleation, myelinated nerve density, nerve fiber density, and neuromuscular junction density. Results In contrast to control EOMs, infantile nystagmus EOMs had significantly more centrally nucleated myofibers, consistent with cycles of degeneration and regeneration. The EOMs of patients with nystagmus also had a greater degree of heterogeneity in myofiber size than did those of controls, with no difference in mean myofiber cross-sectional area. Mean myelinated nerve density, nerve fiber density, and neuromuscular junction density were also significantly decreased in infantile nystagmus EOMs. Conclusions The EOMs of patients with infantile nystagmus displayed a distinct hypoinnervated phenotype. This represents the first quantification of changes in central nucleation and myofiber size heterogeneity, as well as decreased myelinated nerve, nerve fiber, and neuromuscular junction density. These results suggest that deficits in motor innervation are a potential basis for the primary loss of motor control. Clinical Relevance Improved understanding of the etiology of nystagmus may direct future diagnostic and treatment strategies. PMID:22411664

Infantile myofibromatosis.

PubMed

Larralde, Margarita; Ferrari, Bruno; Martinez, Juan Pablo; Barbieri, María Angélica Fernández; Méndez, José Higinio; Casas, José

2017-01-01

Infantile myofibromatosis is a mesenchymal disorder characterized by the fibrous proliferation of the skin, bone, muscle and viscera. It is the most common fibrous tumor in childhood. We present a newborn with skin and bone disease without visceral involvement, who showed good response to vinblastine and methotrexate. Clinical features, etiology, diagnosis, and treatment are reviewed.

Physiological Regulation and Infantile Anorexia: A Pilot Study

ERIC Educational Resources Information Center

Chatoor, Irene; Ganiban, Jody; Surles, Jaclyn; Doussard-Roosevelt, Jane

2004-01-01

Objective: To examine whether infantile anorexia is associated with physiological dysregulation. Method: This study included eight toddlers with infantile anorexia and eight healthy eaters matched for age, race, socioeconomic status, and gender. Physiological measures of heart period and respiratory sinus arrhythmia were assessed across three…

Histidinemia and Infantile Autism

ERIC Educational Resources Information Center

Kotsopoulos, S.; Kutty, K. M.

1979-01-01

The article presents a case history of a boy with both infantile autism and histidenia (an inborn error of amino acid metabolism), and discusses the possible relationship between the two conditions. (DLS)

Similarities and differences between infantile and early childhood onset vanishing white matter disease.

PubMed

Zhou, Ling; Zhang, Haihua; Chen, Na; Zhang, Zhongbin; Liu, Ming; Dai, Lifang; Wang, Jingmin; Jiang, Yuwu; Wu, Ye

2018-06-01

Vanishing white matter disease (VWM) is one of the most prevalent inherited leukoencephalopathies in childhood. Infantile VWM is more severe but less understood than the classic early childhood type. We performed a follow-up study on 14 infantile and 26 childhood patients to delineate the natural history and neuroimaging features of VWM. Infantile and childhood patients shared similarities in the incidence of epileptic seizure (35.7 vs. 38.5%) and episodic aggravation (92.9 vs. 84.6%). Developmental delay before disease onset was more common in infantile patients. Motor disability was earlier and more severe in infantile VWM. In survivors with disease durations of 1-3 years, the Gross Motor Function Classification System (GMFCS) was classified as IV-V in 66.7% of infantile and only 29.4% of childhood patients. Kaplan-Meier survival curve analysis indicated that the 5-year survival rates were 21.6 and 91.3% in infantile and childhood VWM, respectively. In terms of MRI, infantile patients showed more extensive involvement and earlier rarefaction, with more common involvement of subcortical white matter, internal capsule, brain stem and dentate nuclei of the cerebellum. Restricted diffusion was more diffuse or extensive in infantile patients. In addition, four novel mutations were identified. In conclusion, we identified some similarities and differences in the natural history and neuroimaging features between infantile and early childhood VWM.

Is Infantile Colic an Early Life Expression of Childhood Migraine?

PubMed Central

TABRIZI, Manijeh; BADELI, Hamidreza; HASSANZADEH RAD, Afagh; AMINZADEH, Vahid; SHOKUHIFARD, Ali

2017-01-01

Objective Migraine is the mosyndrome and infantile colic is a common cause of infantile cry. The pathogenesis of migraine and colic has not been well established and different factors may cause them. There is an association between infantile colic and the occurrence of childhood migraine. We aimed to assess whether infantile colic could be noted as an early life expression of childhood migraine or not. Materials & Methods This retrospective case-control study was conducted on 5-15-year-old childrenin Rasht, Iran during 2015-2016. Forty-one cases were children with migraine with or without aura. Overall, 123 Control participants were children with the same age referred to the pediatric clinic for routine care. Data were gathered by a checklist including age, sex, birth weight, family history of migraine, the occurrence of colic and type of feeding during infancy. Data were reported by descriptive statistics and analyzed by Fisher exact test using SPSS ver. 19 Results Overall, 164 children with the mean age of 8.36± 2.53 yr were enrolled. Seventeen (41.46%) children with migraine vs. 44 (35.7%) children in control group had the positive history of infantile colic and Fisher exact test noted significant relation between migraine and colic. Thirty-three children with infantile colic (46.57%) had the positive family history of migraine, which was significantly higher than 27 children without colic (29.7%). There was a significant relation between infantile feeding and migraine. Conclusion There is a probable relation between colic and migraine, therefore, migraine and colic as 2 pain syndromes may have a common pathophysiology and further investigations on this common pathophysiology is justified. PMID:28883875

Melatonin Attenuates Histopathological Changes in the Hippocampus of Infantile Rats with Kaolin-Induced Hydrocephalus.

PubMed

Turgut, Mehmet; Baka, Meral; Uyanıkgil, Yiğit

2018-05-23

Hydrocephalus is defined as an incapacitating neurological disorder characterized by ventricular enlargement in children, but the effects of melatonin on this hydrocephalus have not yet been fully elucidated. In the present experiment, we attempted to investigate the effects of exogenous melatonin administration on hydrocephalus-induced hippocampal changes in infantile rats. In this study, we randomly divided 45 Swiss albino rats aged 2 weeks into 3 groups: group I, the control group received a sham injection with needle insertion only; groups II and III were given kaolin injections before treatment - group II, the hydrocephalus group, was treated with an isotonic NaCl solution, and group III, the hydrocephalus plus melatonin group, was treated with 0.5 mg/100 g body weight of exogenous melatonin. Both immunohistochemical and histological analyses were performed after hydrocephalus induction and melatonin administration. Immunohistochemical staining consisted anti-glial fibrillary acidic protein staining. The TUNEL technique was used for defining quantitate apoptosis. Melatonin administration significantly attenuated chronic hydrocephalus-induced histopathological changes in the hippocampal subregions of infantile rats. Compared to hydrocephalic rats treated with saline solution, melatonin significantly decreased the number of apoptotic cells and pyknotic index values of each hippocampal subregion after the kaolin-induced hydrocephalus (p < 0.001). The present results demonstrate that the chronic hydrocephalus-induced histopathological changes in the hippocampus were partially reversible with melatonin treatment, suggesting its neuroprotective effects in infantile rats. However, these findings need to be confirmed by further experimental studies and clinical trials. © 2018 S. Karger AG, Basel.

Hand activities in infantile masturbation: a video analysis of 13 cases.

PubMed

Hansen, Jonas Kjeldbjerg; Balslev, Thomas

2009-11-01

Infantile masturbation is considered a variant of normal behaviour. The abrupt and spontaneous onset, altered sensorium and autonomic phenomena during episodes may suggest an epileptic fit. Therefore, children with infantile masturbation are often admitted to hospital and undergo unnecessary tests. The purpose of the present study was to provide a detailed description of hand activities in infantile masturbation. The authors reviewed video recordings of 2 boys and 11 girls with infantile masturbation. Position, movements and activities of hands and fingers during episodes were registered. Five patterns of hand activities were registered: Fisting (four infants), grasping of toys, furniture or clothing (ten infants), chorea-like "piano playing" hand movements (two infants), pressure over the diaper/genital region (one infant) and bimanual manipulation of items (four infants). Fisting was primarily observed in the younger infants, and bimanual manipulation was primarily seen in the older infants. Recognizing one or more of the five distinct patterns of hand activities in infantile masturbation may help establishing the diagnosis.

Preclinical Screening for Treatments for Infantile Spasms in the Multiple Hit Rat Model of Infantile Spasms: An Update.

PubMed

Galanopoulou, Aristea S; Mowrey, Wenzhu B; Liu, Wei; Li, Qianyun; Shandra, Oleksii; Moshé, Solomon L

2017-07-01

Infantile spasms are the typical seizures of West syndrome, an infantile epileptic encephalopathy with poor outcomes. There is an increasing need to identify more effective and better tolerated treatments for infantile spasms. We have optimized the rat model of infantile spasms due to structural etiology, the multiple-hit rat model, for therapy discovery. Here, we test three compounds administered after spasms induction in the multiple hit model for efficacy and tolerability. Specifically, postnatal day 3 (PN3) male Sprague-Dawley rats were induced by right intracerebral injections of doxorubicin and lipopolysaccharide. On PN5 p-chlorophenylalanine was given intraperitoneally (i.p.). Daily monitoring of weights and developmental milestones was done and rats were intermittently video monitored. A blinded, randomized, vehicle-controlled study design was followed. The caspase 1 inhibitor VX-765 (50-200 mg/kg i.p.) and the GABA B receptor inhibitor CGP35348 (12.5-100 mg/kg i.p.) each was administered in different cohorts as single intraperitoneal injections on PN4, using a dose- and time-response design with intermittent monitoring till PN5. 17β-estradiol (40 ng/g/day subcutaneously) was given daily between PN3-10 and intermittent monitoring was done till PN12. None of the treatments demonstrated acute or delayed effects on spasms, yet all were well tolerated. We discuss the implications for therapy discovery and challenges of replication trials.

Infantile masturbation and paroxysmal disorders.

PubMed

Omran, Mohammadreza Salehi; Ghofrani, Mohammad; Juibary, Ali Ghabeli

2008-02-01

A recurrent paroxysmal presentation in children leads to different diagnoses and among them are neurologic and cardiac etiologies. Infantile masturbation is not a well known entity and cannot be differentiated easily from other disorders. Aim of this study is to elucidate and differentiate this condition from epileptic seizures. We report 3 cases of 10 to 30 mth old girls of infantile masturbation that their symptoms initiated at 2, 3 and 8 mth of age. These present with contraction and extension of lower extremities, scissoring of legs, perspiration, changing face color. In 2 cases body rocking and legs rubbing initiated then there after. Masturbation is one of the paroxysmal non-epileptic conditions of early infancy and is in differential diagnosis of epileptic seizures.

CSF B-Endorphin Levels in Patients with Infantile Autism.

ERIC Educational Resources Information Center

Nagamitsu, Shinichiro; And Others

1997-01-01

A Japanese study measured CSF (cerebrospinal fluid) levels of beta-endorphin in 19 children (ages 4-6) with infantile autism and in 3 children (ages 10-14) with Rett syndrome. In infantile autism, levels did not differ significantly from control participants (n=23). However, levels were significantly higher in those with Rett syndrome. (Author/CR)

[Which treatments for infantile colics?].

PubMed

Bruyas-Bertholon, Virginie; Lachaux, Alain; Dubois, Jean-Pierre; Fourneret, Pierre; Letrilliart, Laurent

2012-07-01

Infantile colics or excessive crying represent a source of stress for parents and a frequent reason for encounter in primary care. To assess the effectiveness of treatments of this syndrome from a systematic review. Medline, Cochrane and Embase databases. We used the following inclusion criteria: therapeutic assessment of infant colics or excessive crying, randomized controlled trials or meta-analyses, published in English or French language. Thirty-one randomized controlled trials and one meta-analysis have been included. Allopathic drugs have not proved effectiveness (simethicone, lactase) and some of them can cause potentially serious adverse reactions (dicyclomine). Protein hydrolysate or soy formulas seem to be effective, but soy milk can induce allergies. Sucrose solutions provide some benefit in studies with low level of evidence. Effectiveness is likely for a probiotics (Lactobacillus reuteri) and for herbal mixtures containing fennel extracts. Evidence is lacking for manual (osteopathy, acupuncture) and behavioural therapies (decreased stimulations, reassurance of parents). The definition of infantile colics and the methods used for crying measurement changed across trials. The included trials were of variable quality, especially with no double-blind procedure in 17 trials. The most validated treatments for infantile colics are the substitution of cows' milk by a hydrolysed formula, the use of L. reuteri and of fennel extracts. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Exploring Hypotheses and Rationale for Causes of Infantile Colic

PubMed Central

Camilleri, Michael; Park, Seon-Young; Scarpato, Elena; Staiano, Annamaria

2016-01-01

Background Infantile colic is a frequent problem in neonates and infants. This review addresses current management including the results for nutrient modifications, soy-based formulas, and prebiotics, probiotics and synbiotics. Purpose Given the evidence that there is still an unmet clinical need, as current treatments are incompletely efficacious, we have examined the evidence around three hypothetical mechanisms that could potentially be involved in etiopathogenesis of infantile colic: immaturity of bile acid mechanisms that alter intraluminal and absorptive mechanisms, immaturity in motility and alterations in the microbiome. Understanding these potential mechanisms may lead to the introduction of diagnostic procedures that should enhance the selection or individualization of therapy for infantile colic. PMID:27647578

A case of infantile osteopetrosis: The radioclinical features with literature update.

PubMed

El-Sobky, Tamer Ahmed; Elsobky, Ezzat; Sadek, Ismaiel; Elsayed, Solaf M; Khattab, Mohamed Fawzy

2016-06-01

Osteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling. Infantile autosomal recessive osteopetrosis is one of three subtypes of osteopetrosis and the most severe form. The correct and early diagnosis of infantile osteopetrosis is important for management of complications and for future genetic counselling. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable. Therefore, in this case study the classical clinical and radiological signs of a boy with infantile osteopetrosis will be presented with a comprehensive literature update. The differentiating signs from other causes of hereditary osteosclerosing dysplasias are discussed. This case study and review of available literature show that there tends to be a highly unique clinical and skeletal radiographic pattern of affection in infantile osteopetrosis. Although tremendous advances have been made in the elucidation of the genetic defect of osteopetrosis over the past years, the role of accurate clinical and radiological assessment remains an important contributor to the diagnosis of infantile osteopetrosis.

Extending Childhood into the Teen Years: "Infantilization" and Its Consequences

ERIC Educational Resources Information Center

Skager, Rodney

2009-01-01

Young people sandwiched between childhood and adulthood often rebel when adults treat them like children rather than with the respect that acknowledges their intelligence and potential. Research and theory supporting the view of "infantilizing" adolescents has proliferated. The extent to which modern cultures infantilize youth is evident in…

Outdoor environment, ozone, radionuclide-associated aerosols and incidences of infantile eczema in Minsk, Belarus.

PubMed

Belugina, I N; Yagovdik, N Z; Belugina, O S; Belugin, S N

2018-05-06

The early occurrence of atopic dermatitis in infants may be influenced by urban air pollution. The aim of this study was to determine the relationship between incidences of infantile eczema in children under 2 years of age and urban outdoor environmental factors. A 11-year population-based study was conducted in retrospective design. The age/gender-adjusted incidence rates of infantile eczema were determined using the data of outpatient visits. We analysed 1965 cases with atopic dermatitis including infantile eczema in relation to the annual means of outdoor monitoring data from 2005 through 2015 in Minsk. Logistic regression and principal component analysis were performed to determine association between the annual means of air pollutants, meteorological variables and incidences of infantile eczema. Higher mean annual carbon monoxide, ammonia, formaldehyde, lead, particulate matter and ground-level ozone were associated with high incidence rates of infantile eczema both in boys and girls. Higher nitrogen dioxide was associated with high incidence rates of infantile eczema in girls 1-2 years of age and boys 0-2 years of age. There were identified by principal component analysis five combinations of pollutants and meteorological factors. High incidence rates of infantile eczema were associated with the combinations contained higher levels of air pollutants and ultraviolet index, or lower β-activity of the radionuclide-associated aerosols. The higher phenol and formaldehyde levels the higher incidence rates of infantile eczema were observed among boys 0-1 years of age and girls 1-2 years of age. The higher total column ozone with lower lead level was associated with low incidence rates of infantile eczema among boys and girls 1-2 years of age. Urban outdoor air pollutants and their combination with meteorological conditions may impact onset of infantile eczema in both genders. © 2018 European Academy of Dermatology and Venereology.

The hazards of honey: infantile botulism

PubMed Central

Smith, Jennifer K; Burns, Sarah; Cunningham, Steve; Freeman, Julie; McLellan, Ailsa; McWilliam, Kenneth

2010-01-01

Infantile botulism is a rare cause of neuromuscular weakness resulting from ingestion of Clostridium botulinum—an anaerobic Gram-positive bacillus found universally in soil. The only definite food source known to cause infantile botulism is honey; previously, links to formula milk have been postulated but not definitely sourced. We present an interesting case report of a 2-month-old infant with this rare condition, including the diagnostic difficulties that ensued. A brief overview of the condition follows. This is the first case in the UK in which C botulinum was successfully isolated from both the patient and the suspected source—a jar of honey. The importance of food labelling as a public health message is highlighted. PMID:22778374

[Infantile hemangioma and propranolol: a therapeutic "revolution". Literature review].

PubMed

Yilmaz, L; Dangoisse, C; Semaille, P

2013-01-01

Infantile hemangioma (IH) is the most common benign vascular tumour affecting children. Most infantile hemangiomas are self-limiting, but some require specific treatment. Propranolol has been proposed for the treatment of infantile hemangiomas. The aim of this study is to explore the mechanism of action of propranolol for the treatment of infantile hemangiomas and to demonstrate its safety and efficacy through a review of the literature. The non cardioselective bêta-blocker propranolol has been used in a pediatric setting for 40 years and, since 2008, has a new indication. A clearly significant improvement has been observed in the condition of children with complicated IH (10%) treated with propranolol. This new indication has been widely described in the international literature. Various explanations have been put forward for the mechanism of action including a vasoconstrictor, antiangiogenic and apoptotic effect of propranolol on the different cells making up an IH. Overall tolerance is good and the efficacy markedly superior to that of any other treatments used for this purpose. In conclusion, with its good tolerance profile and superior efficacy versus all the other available therapies, propranolol can be considered to be a first-line treatment for complicated IH.

Prospective study of the frequency of hepatic hemangiomas in infants with multiple cutaneous infantile hemangiomas.

PubMed

Horii, Kimberly A; Drolet, Beth A; Frieden, Ilona J; Baselga, Eulalia; Chamlin, Sarah L; Haggstrom, Anita N; Holland, Kristen E; Mancini, Anthony J; McCuaig, Catherine C; Metry, Denise W; Morel, Kimberly D; Newell, Brandon D; Nopper, Amy J; Powell, Julie; Garzon, Maria C

2011-01-01

Multiple cutaneous infantile hemangiomas have been associated with hepatic hemangiomas. Screening of infants with five or more cutaneous infantile hemangiomas with abdominal ultrasound is often recommended. The aim of this study was to determine the frequency with which hepatic hemangiomas occur in infants with five or more cutaneous infantile hemangiomas compared to those with one to four cutaneous infantile hemangiomas and to characterize the clinical features of these hepatic hemangiomas. A multicenter prospective study of children with cutaneous infantile hemangiomas was conducted at pediatric dermatology clinics at Hemangioma Investigator Groups sites in the United States, Canada, and Spain between October 2005 and December 2008. Data were collected, and abdominal ultrasonography was performed on infants younger than 6 months old with five or more cutaneous infantile hemangiomas and those with one to four cutaneous infantile hemangiomas. Twenty-four (16%) of the 151 infants with five or more cutaneous infantile hemangiomas had hepatic hemangiomas identified on abdominal ultrasound, versus none of the infants with fewer than five (p = 0.003). Two of the 24 infants with hepatic hemangiomas received treatment specifically for their hepatic hemangiomas. Infants with five or more cutaneous infantile hemangiomas have a statistically significantly greater frequency of hepatic hemangiomas than those with fewer than 5. These findings support the recommendation of five or more cutaneous infantile hemangiomas as a threshold for screening infants younger than 6 months old for hepatic hemangiomas but also demonstrate that the large majority of these infants with hepatic hemangiomas do not require treatment. © 2011 Wiley Periodicals, Inc.

Endemic characteristics of infantile visceral leishmaniasis in the People's Republic of China.

PubMed

Fu, Qing; Li, Shi-Zhu; Wu, Wei-Ping; Hou, Yan-Yan; Zhang, Song; Feng, Yu; Zhang, Li-Ping; Tang, Lin-Hua

2013-05-17

Visceral leishmaniasis (VL) was once a severe parasitic disease in China. Thanks to the great efforts of integrated control, VL was eliminated in most epidemic areas, except for certain western provinces (autonomous region) at the end of 1950s. From then on, VL gained less attention and has seemed to spread, especially in the last 15 years. Infants are the most important population threatened by VL. However, there have been few studies on the endemic characteristics of infantile VL in China. Infantile VL cases were collected from the online National Infectious Diseases Reporting System (NIDRS). Statistical description and inference was used to reveal the endemic characteristics in gender, age group, time and regionalism. Spatial analysis was carried out to explore the high risk area for infantile VL in China. A total of 1093 infantile VL cases were reported from 2006 to 2012. There was no statistically significant difference in gender over time. The minimum, maximum and mean age of these cases was 1.1, 35.9 and 13.8 months, respectively. Among them 86.92% were under 2 years of age, and there was a statistically significant difference among age groups over time. An incidence peak appeared in 2008-2009, most cases were distributed in the months September to December, and there was a tail-raising effect in the coming two months of the next year. More than 98% of cases were reported in Xinjiang Uygur Autonomous Region, Gansu Province and Sichuan Province, accounting for 61.02%, 32.75% and 4.57%, respectively. A total of 56 counties reported infantile VL cases, with the cumulative incidence ranging from 0.02 to 24.57%. There were two main zones of high endemicity for infantile VL in China. The monthly incidence clearly coincides with the number of towns where infantile VL cases were reported. Three fatalities were reported during the study period, the case fatality rate was 2.75‰. The endemic situation of infantile VL is serious, and there are several active foci of

The role of melatonin and cortisol circadian rhythms in the pathogenesis of infantile colic.

PubMed

İnce, Tolga; Akman, Hakkı; Çimrin, Dilek; Aydın, Adem

2018-03-05

Despite the high prevalence of infantile colic, the pathogenesis remains incompletely understood. Cortisol and melatonin hormones affect gastrointestinal system development in several ways, and interestingly, both cortisol and melatonin's circadian rhythms begin around the 3rd month in which infantile colic symptoms start to decrease. We hypothesized that infantile colic might associate with desynchronization of normal circadian rhythms of these hormones. In this study, we aimed to investigate the role of melatonin and cortisol in the pathogenesis of infantile colic. Patients who were diagnosed as infantile colic according to Wessel's "rule of three" were enrolled in the colic group. We measured the saliva melatonin and cortisol levels of colic group and control group infants. In both groups, the saliva samples were taken in mornings and at evenings, at the time of diagnosis and 6th month. Fifty-five infants finished the study. Melatonin circadian rhythm developed earlier in the control group than the infantile colic group in our study. We found no significant difference between the daily mean cortisol levels. However, infants with colic had flatter daily cortisol slope than controls which pointed out the probability that they had a less clearly defined cortisol rhythm than infants without colic. We found an association between melatonin levels and infantile colic. However, more research is needed to fully understand the role of hypothalamic-pituitary-adrenal axis and hormone's role on infantile colic physiopathology.

Neural mechanisms of oculomotor abnormalities in the infantile strabismus syndrome.

PubMed

Walton, Mark M G; Pallus, Adam; Fleuriet, Jérome; Mustari, Michael J; Tarczy-Hornoch, Kristina

2017-07-01

Infantile strabismus is characterized by numerous visual and oculomotor abnormalities. Recently nonhuman primate models of infantile strabismus have been established, with characteristics that closely match those observed in human patients. This has made it possible to study the neural basis for visual and oculomotor symptoms in infantile strabismus. In this review, we consider the available evidence for neural abnormalities in structures related to oculomotor pathways ranging from visual cortex to oculomotor nuclei. These studies provide compelling evidence that a disturbance of binocular vision during a sensitive period early in life, whatever the cause, results in a cascade of abnormalities through numerous brain areas involved in visual functions and eye movements. Copyright © 2017 the American Physiological Society.

YouTube videos as a teaching tool and patient resource for infantile spasms.

PubMed

Fat, Mary Jane Lim; Doja, Asif; Barrowman, Nick; Sell, Erick

2011-07-01

The purpose of this study was to assess YouTube videos for their efficacy as a patient resource for infantile spasms. Videos were searched using the terms infantile spasm, spasm, epileptic spasm, and West syndrome. The top 25 videos under each term were selected according to set criteria. Technical quality, diagnosis of infantile spasms, and suitability as a teaching resource were assessed by 2 neurologists using the Medical Video Rating Scale. There were 5858 videos found. Of the 100 top videos, 46% did not meet selection criteria. Mean rating for technical quality was 4.0 of 5 for rater 1 and 3.9 of 5 for rater 2. Raters found 60% and 64% of videos to accurately portray infantile spasms, respectively, with significant agreement (Cohen κ coefficient = 0.75, P < .001). Ten videos were considered excellent examples (grading of 5 of 5) by at least 1 rater. YouTube may be used as an excellent patient resource for infantile spasms if guided search practices are followed.

Early Infantile Autism and Autistic Psychopathy

ERIC Educational Resources Information Center

Van Krevelen, D. Arn

1971-01-01

The paper tries to assign to autistic psychopathy a definite place in psychiatric nosology and to delineate sharply the differences between the essential characteristics of it and of early infantile autism. (Author)

Infantile Amnesia: A Critical Period of Learning to Learn and Remember

PubMed Central

Travaglia, Alessio

2017-01-01

Infantile amnesia, the inability of adults to recollect early episodic memories, is associated with the rapid forgetting that occurs in childhood. It has been suggested that infantile amnesia is due to the underdevelopment of the infant brain, which would preclude memory consolidation, or to deficits in memory retrieval. Although early memories are inaccessible to adults, early-life events, such as neglect or aversive experiences, can greatly impact adult behavior and may predispose individuals to various psychopathologies. It remains unclear how a brain that rapidly forgets, or is not yet able to form long-term memories, can exert such a long-lasting and important influence. Here, with a particular focus on the hippocampal memory system, we review the literature and discuss new evidence obtained in rats that illuminates the paradox of infantile amnesia. We propose that infantile amnesia reflects a developmental critical period during which the learning system is learning how to learn and remember. PMID:28615475

Towards a consensus-based biokinetic model for green microalgae - The ASM-A.

PubMed

Wágner, Dorottya S; Valverde-Pérez, Borja; Sæbø, Mariann; Bregua de la Sotilla, Marta; Van Wagenen, Jonathan; Smets, Barth F; Plósz, Benedek Gy

2016-10-15

Cultivation of microalgae in open ponds and closed photobioreactors (PBRs) using wastewater resources offers an opportunity for biochemical nutrient recovery. Effective reactor system design and process control of PBRs requires process models. Several models with different complexities have been developed to predict microalgal growth. However, none of these models can effectively describe all the relevant processes when microalgal growth is coupled with nutrient removal and recovery from wastewaters. Here, we present a mathematical model developed to simulate green microalgal growth (ASM-A) using the systematic approach of the activated sludge modelling (ASM) framework. The process model - identified based on a literature review and using new experimental data - accounts for factors influencing photoautotrophic and heterotrophic microalgal growth, nutrient uptake and storage (i.e. Droop model) and decay of microalgae. Model parameters were estimated using laboratory-scale batch and sequenced batch experiments using the novel Latin Hypercube Sampling based Simplex (LHSS) method. The model was evaluated using independent data obtained in a 24-L PBR operated in sequenced batch mode. Identifiability of the model was assessed. The model can effectively describe microalgal biomass growth, ammonia and phosphate concentrations as well as the phosphorus storage using a set of average parameter values estimated with the experimental data. A statistical analysis of simulation and measured data suggests that culture history and substrate availability can introduce significant variability on parameter values for predicting the reaction rates for bulk nitrate and the intracellularly stored nitrogen state-variables, thereby requiring scenario specific model calibration. ASM-A was identified using standard cultivation medium and it can provide a platform for extensions accounting for factors influencing algal growth and nutrient storage using wastewater resources. Copyright �

Epithelial Markers aSMA, Krt14, and Krt19 Unveil Elements of Murine Lacrimal Gland Morphogenesis and Maturation.

PubMed

Kuony, Alison; Michon, Frederic

2017-01-01

As an element of the lacrimal apparatus, the lacrimal gland (LG) produces the aqueous part of the tear film, which protects the eye surface. Therefore, a defective LG can lead to serious eyesight impairment. Up to now, little is known about LG morphogenesis and subsequent maturation. In this study, we delineated elements of the cellular and molecular events involved in LG formation by using three epithelial markers, namely aSMA, Krt14, and Krt19. While aSMA marked a restricted epithelial population of the terminal end buds (TEBs) in the forming LG, Krt14 was found in the whole embryonic LG epithelial basal cell layer. Interestingly, Krt19 specifically labeled the presumptive ductal domain and subsequently, the luminal cell layer. By combining these markers, the Fucci reporter mouse strain and genetic fate mapping of the Krt14 + population, we demonstrated that LG epithelium expansion is fuelled by a patterned cell proliferation, and to a lesser extent by epithelial reorganization and possible mesenchymal-to-epithelial transition. We pointed out that this epithelial reorganization, which is associated with apoptosis, regulated the lumen formation. Finally, we showed that the inhibition of Notch signaling prevented the ductal identity from setting, and led to a LG covered by ectopic TEBs. Taken together our results bring a deeper understanding on LG morphogenesis, epithelial domain identity, and organ expansion.

Epithelial Markers aSMA, Krt14, and Krt19 Unveil Elements of Murine Lacrimal Gland Morphogenesis and Maturation

PubMed Central

Kuony, Alison; Michon, Frederic

2017-01-01

As an element of the lacrimal apparatus, the lacrimal gland (LG) produces the aqueous part of the tear film, which protects the eye surface. Therefore, a defective LG can lead to serious eyesight impairment. Up to now, little is known about LG morphogenesis and subsequent maturation. In this study, we delineated elements of the cellular and molecular events involved in LG formation by using three epithelial markers, namely aSMA, Krt14, and Krt19. While aSMA marked a restricted epithelial population of the terminal end buds (TEBs) in the forming LG, Krt14 was found in the whole embryonic LG epithelial basal cell layer. Interestingly, Krt19 specifically labeled the presumptive ductal domain and subsequently, the luminal cell layer. By combining these markers, the Fucci reporter mouse strain and genetic fate mapping of the Krt14+ population, we demonstrated that LG epithelium expansion is fuelled by a patterned cell proliferation, and to a lesser extent by epithelial reorganization and possible mesenchymal-to-epithelial transition. We pointed out that this epithelial reorganization, which is associated with apoptosis, regulated the lumen formation. Finally, we showed that the inhibition of Notch signaling prevented the ductal identity from setting, and led to a LG covered by ectopic TEBs. Taken together our results bring a deeper understanding on LG morphogenesis, epithelial domain identity, and organ expansion. PMID:29033846

Endemic characteristics of infantile visceral leishmaniasis in the People’s Republic of China

PubMed Central

2013-01-01

Background Visceral leishmaniasis (VL) was once a severe parasitic disease in China. Thanks to the great efforts of integrated control, VL was eliminated in most epidemic areas, except for certain western provinces (autonomous region) at the end of 1950s. From then on, VL gained less attention and has seemed to spread, especially in the last 15 years. Infants are the most important population threatened by VL. However, there have been few studies on the endemic characteristics of infantile VL in China. Methods Infantile VL cases were collected from the online National Infectious Diseases Reporting System (NIDRS). Statistical description and inference was used to reveal the endemic characteristics in gender, age group, time and regionalism. Spatial analysis was carried out to explore the high risk area for infantile VL in China. Results A total of 1093 infantile VL cases were reported from 2006 to 2012. There was no statistically significant difference in gender over time. The minimum, maximum and mean age of these cases was 1.1, 35.9 and 13.8 months, respectively. Among them 86.92% were under 2 years of age, and there was a statistically significant difference among age groups over time. An incidence peak appeared in 2008-2009, most cases were distributed in the months September to December, and there was a tail-raising effect in the coming two months of the next year. More than 98% of cases were reported in Xinjiang Uygur Autonomous Region, Gansu Province and Sichuan Province, accounting for 61.02%, 32.75% and 4.57%, respectively. A total of 56 counties reported infantile VL cases, with the cumulative incidence ranging from 0.02 to 24.57%. There were two main zones of high endemicity for infantile VL in China. The monthly incidence clearly coincides with the number of towns where infantile VL cases were reported. Three fatalities were reported during the study period, the case fatality rate was 2.75‰. Conclusions The endemic situation of infantile VL is

Effectiveness of Mentha piperita in the Treatment of Infantile Colic: A Crossover Study

PubMed Central

Alves, João Guilherme Bezerra; de Brito, Rita de Cássia Coelho Moraes; Cavalcanti, Telma Samila

2012-01-01

Background. Infantile colic is a distressing and common condition for which there is no proven standard treatment. Objective. To compare the efficacy of Mentha piperita with simethicone in treatment for infantile colic. Methods. A double-blind crossover study was performed with 30 infants attending IMIP, Recife, Brazil. They were randomized to use Mentha piperita or simethicone in the treatment of infantile colic during 7 days with each drug. Primary outcomes were mother_s opinion about responses to the treatment, number of daily episodes of colic, and time spent crying, measured by a chronometer. Mann-Whitney and chi-square tests were used to compare the results. This study was previously approved by the Ethical Committee in Research at IMIP. Results. At baseline daily episodes of infantile colic was 3.9 (±1.1) and the mean crying time per day was 192 minutes (±51.6). At the end of the study daily episodes of colic fell to 1.6 (±0.6) and the crying duration decreased to 111 (±28) minutes. All mothers reported decrease of frequency and duration of the episodes of infantile colic and there were no differences between responses to Mentha piperita and simethicone. Conclusions. These findings suggest that Mentha piperita may be used to help control infantile colic. However, these results must be repeated by others studies. PMID:22844342

Recurrent Somatic PDGFRB Mutations in Sporadic Infantile/Solitary Adult Myofibromas But Not in Angioleiomyomas and Myopericytomas.

PubMed

Agaimy, Abbas; Bieg, Matthias; Michal, Michael; Geddert, Helene; Märkl, Bruno; Seitz, Jan; Moskalev, Evgeny A; Schlesner, Matthias; Metzler, Markus; Hartmann, Arndt; Wiemann, Stefan; Michal, Michal; Mentzel, Thomas; Haller, Florian

2017-02-01

Infantile myofibroma (MF) is an uncommon benign myofibroblastic tumor of infancy and childhood. Solitary adult MF shares similar features with infantile MF. The lesions occur in 3 clinicopathologic settings: solitary, multicentric, and generalized and can be either sporadic or familial. Traditionally, infantile MF has been included in the spectrum of infantile hemangiopericytoma. The recent World Health Organization classification listed MF, angioleiomyoma, and myopericytoma under the general heading of perivascular tumors in the sense of a morphologic spectrum of perivascular myoid cell neoplasms. Although activating germline PDGFRB mutations have recently been linked to familial infantile MF, the molecular pathogenesis of sporadic infantile and adult solitary MF remained unclear. In this study, we analyzed 25 solitary MFs without evidence of familial disease (9 infantile and 16 adult MFs) to address the question whether somatic PDGFRB mutations might be responsible for the sporadic form of the disease. Given the presumed histogenetic link of MF to myopericytoma and angioleiomyoma, we additionally analyzed a control group of 6 myopericytomas and 9 angioleiomyomas for PDGFRB mutations. We detected PDGFRB mutations in 6/8 (75%) analyzable infantile and in 11/16 (69%) adult MFs but in none of the angioleiomyomas or myopericytomas. In 2 infantile MFs, additional sequencing of the germline confirmed the somatic nature of PDGFRB mutations. To our knowledge, this is the first study reporting apparently somatic recurrent PDGFRB mutations as molecular driver events in the majority of sporadic infantile and adult solitary MFs. Our results suggest molecular distinctness of MF as compared with angioleiomyoma/myopericytoma. Investigation of more cases including those with atypical and worrisome features, as well as other mimickers in the heterogenous morphologic spectrum of MF, is mandatory for validating the potential diagnostic value of PDGFRB mutation testing as a possible

Infantile Hepatic Hemangioendothelioma: An Uncommon Cause of Persistent Pulmonary Hypertension in a Newborn Infant.

PubMed

Chatmethakul, Trassanee; Bhat, Ramachandra; Alkaabi, Maryam; Siddiqui, Abdul; Peevy, Keith; Zayek, Michael

2016-07-01

Multifocal and diffuse infantile hepatic hemangioendotheliomas commonly present with signs of high-output congestive heart failure. In addition, prolonged persistent pulmonary overcirculation eventually leads to the development of pulmonary hypertension at a later age. We report a 2-day old, full-term infant with multifocal, large infantile hepatic hemangioendothelioma, who presented with an early onset of pulmonary hypertension, managed successfully with supportive care and systemic therapy directed toward the involution of infantile hepatic hemangioendothelioma.

Efficacy of Lactobacillus reuteri DSM 17938 for infantile colic

PubMed Central

Gutiérrez-Castrellón, Pedro; Indrio, Flavia; Bolio-Galvis, Alexis; Jiménez-Gutiérrez, Carlos; Jimenez-Escobar, Irma; López-Velázquez, Gabriel

2017-01-01

Abstract Background: 5% to 40% of infants cry excessively, usually accompanied by fussiness and excessive of gas. There are no uniform criteria for treatment of infantile colic. Lactobacillus reuteri DSM 17938 has been used with promising results. The objective of this network-meta-analysis (NMA) is to compare the efficacy of L reuteri DSM 17938 with other interventions for infantile colic. Methods: RCTs, published between 1960 and 2015 for the treatment of infantile colic were included. Primary outcome was duration of crying after 21 to 28 days of treatment. Different databases were searched. Information was analyzed using control group as central axis. A random effect model was used. Hedges standard mean difference (SMD) and odds ratio (OR) were calculated. A SUCRA analysis was performed to evaluate superiority for each intervention. Results: 32 RCTs were analyzed, including 2242 patients. Studies with L reuteri DSM 17938 versus Ctrl., Diet versus Ctrl. and Acupuncture versus Ctrl. were the most influential studies in the NMA. L reuteri DSM 17938 [WMD −51.3 h (CI95% −72.2 to −30.5 h), P .0001] and dietetic approaches [WMD −37.4 h (CI95% −56.1 to −18.7 h), P .0001] were superior compared to the other treatments. Conclusions: L reuteri DSM 17938 and some dietetic approaches are better to other interventions for treatment of infantile colic. PMID:29390535

Neoadjuvant Chemotherapy for Facilitating Surgical Resection of Infantile Massive Intracranial Immature Teratoma.

PubMed

Kitahara, Takahiro; Tsuji, Yoshihito; Shirase, Tomoyuki; Yukawa, Hiroyuki; Takeichi, Yasuhiro; Yamazoe, Naohiro

2016-04-01

Immature teratoma (IMT) is the most frequent histological subtype of infantile intracranial teratoma, the most common congenital brain tumor. IMT contains incompletely differentiated components resembling fetal tissues. Infantile intracranial IMT has a dismal prognosis, because it is often inoperable due to its massive size and high vascularity. Neoadjuvant chemotherapy has been shown to be effective in decreasing tumor volume and vascularity to facilitate surgical resection in other types of infantile brain tumors. However, only one recent case report described the effectiveness of neoadjuvant chemotherapy for infantile intracranial IMT in the literature, even though it is common entity with a poor prognosis in infants. Here, we describe the case of a 2-month-old male infant with a very large intracranial IMT. Maximal surgical resection was first attempted but was unsuccessful because of severe intraoperative hemorrhage. Neoadjuvant carboplatin and etoposide (CARE) chemotherapy was then administered with the aim of shrinking and devascularizing the tumor. After neoadjuvant chemotherapy, tumor size did not decrease, but intraoperative blood loss significantly decreased and near-total resection was achieved by the second and third surgery. The patient underwent adjuvant CARE chemotherapy and has been alive for 3 years after surgery without tumor regrowth. Even when neoadjuvant chemotherapy does not decrease tumor volume of infantile intracranial IMT, surgical resection should be tried because chemotherapy can facilitate surgical resection and improve clinical outcome by reducing tumor vascularity.

Failure to thrive and cognitive development in toddlers with infantile anorexia.

PubMed

Chatoor, Irene; Surles, Jaclyn; Ganiban, Jody; Beker, Leila; Paez, Laura McWade; Kerzner, Benny

2004-05-01

The goal of this study was to examine the relative contributions of growth deficiency and psychosocial factors to cognitive development in toddlers with infantile anorexia. Eighty-eight toddlers, ranging in age from 12 to 33 months, were enrolled in this study. Toddlers were evaluated by 2 child psychiatrists and placed into 1 of 3 groups: infantile anorexia, picky eater, and healthy eater. All 3 groups were matched for age, race, gender, and socioeconomic status (SES). Toddlers underwent nutritional evaluations and cognitive assessments with the Bayley Scales of Infant Development. Toddlers and their mothers were also videotaped during feeding and play interactions, which later were rated independently by 2 observers. On average, toddlers with infantile anorexia performed within the normal range of cognitive development. However, the Mental Developmental Index (MDI) scores of the healthy eater group (MDI = 110) were significantly higher than those of the infantile anorexia (MDI = 99) and picky eater (MDI = 96) groups. Within the infantile anorexia group, correlations between MDI scores and the toddlers' percentage of ideal body weight approached statistical significance (r =.32). Across all groups, the toddlers' MDI scores were associated with the quality of mother-child interactions, SES level, and maternal education level. Collectively, these variables explained 22% of the variance in MDI scores. This study demonstrated that psychosocial factors, such as mother-toddler interactions, maternal education level, and SES level, are related to the cognitive development of toddlers with feeding problems and explain more unique variance in MDI scores than nutritional status.

Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.

PubMed

Sima, Ni; Li, Rong; Huang, Wei; Xu, Miao; Beers, Jeanette; Zou, Jizhong; Titus, Steven; Ottinger, Elizabeth A; Marugan, Juan J; Xie, Xing; Zheng, Wei

2018-04-10

Infantile and late infantile neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases affecting the central nervous system (CNS). The infantile NCL (INCL) is caused by mutations in the PPT1 gene and late-infantile NCL (LINCL) is due to mutations in the TPP1 gene. Deficiency in PPT1 or TPP1 enzyme function results in lysosomal accumulation of pathological lipofuscin-like material in the patient cells. There is currently no small-molecular drug treatment for NCLs. We have generated induced pluripotent stem cells (iPSC) from three patient dermal fibroblast lines and further differentiated them into neural stem cells (NSCs). Using these new disease models, we evaluated the effect of δ-tocopherol (DT) and hydroxypropyl-β-cyclodextrin (HPBCD) with the enzyme replacement therapy as the control. Treatment with the relevant recombinant enzyme or DT significantly ameliorated the lipid accumulation and lysosomal enlargement in the disease cells. A combination therapy of δ-tocopherol and HPBCD further improved the effect compared to that of either drug used as a single therapy. The results demonstrate that these patient iPSC derived NCL NSCs are valid cell- based disease models with characteristic disease phenotypes that can be used for study of disease pathophysiology and drug development.

The controversial role of food allergy in infantile colic: evidence and clinical management.

PubMed

Nocerino, Rita; Pezzella, Vincenza; Cosenza, Linda; Amoroso, Antonio; Di Scala, Carmen; Amato, Francesco; Iacono, Giuseppe; Canani, Roberto Berni

2015-03-19

Food allergies (FAs) are an increasing problem in Western countries, affecting up to 10% of young children. FAs are frequently associated with gastrointestinal manifestations. The role of FAs as a potential causative factor for infantile colic (IC) is still controversial. We report the most recent evidence on the pathogenesis, clinical and diagnostic aspects of FA-induced infantile colic (IC) and suggest a stepwise diagnostic approach. We selected articles on clinical and immunologic features, pathogenesis and management of FAs and IC from of 1981 to 2015. Original and review articles were identified through selective searches performed on PubMed, using the following terms: colic, infantile colic, food allergy and infantile colic, infantile colic treatment. The possible relationship between FAs and IC derives from the presence of dysmotility with visceral hypersensitivity and dysbiosis, demonstrated in both conditions, and the clinical response to dietary interventions. Unfortunately, the design of the studies, poor characterization of atopy and different dietary approaches limit the understanding of the importance of FAs in subjects with IC. The role of FAs in IC subjects without other symptoms of atopy remains controversial. However, where there is a suspicion of FAs, a short trial with an extensively hydrolyzed cow's proteins formula or, if breast fed, with maternal elimination diet may be considered a reasonable option.

Ontogeny of memory: An update on 40 years of work on infantile amnesia.

PubMed

Madsen, Heather Bronwyn; Kim, Jee Hyun

2016-02-01

Given the profound influence that early life experiences can have upon psychosocial functioning later in life, it is intriguing that most adults fail to recall autobiographical events from their early childhood years. Infantile amnesia is the term used to describe this phenomenon of accelerated forgetting during infancy, and it is not unique to humans. Over the years, information garnered from animal studies has provided clues as to the neurobiological basis of infantile amnesia. The purpose of this review is to provide a neurobiological update on what we now know about infantile amnesia since the publication of Campbell and Spear's seminal review on the topic more than 40 years ago. We present evidence that infantile amnesia is unlikely to be explained by a unitary theory, with the protracted development of multiple brain regions and neurotransmitter systems important for learning and memory likely to be involved. The recent discovery that exposure to early life stress can alleviate infantile amnesia offers a potential explanation as to how early adversity can so profoundly affect mental health in adulthood, and understanding the neurobiological basis for this early transition may lead to the development of effective therapeutic interventions. Copyright © 2015 Elsevier B.V. All rights reserved.

Infantile Amnesia: Forgotten but Not Gone

ERIC Educational Resources Information Center

Li, Stella; Callaghan, Bridget L.; Richardson, Rick

2014-01-01

Unlike adult memories that can be remembered for many years, memories that are formed early in life are more fragile and susceptible to being forgotten (a phenomenon known as "infantile" or "childhood" amnesia). Nonetheless, decades of research in both humans and nonhuman animals demonstrate the importance of early life…

Infantile botulism: a case report and review.

PubMed

Brown, Nicole; Desai, Sameer

2013-12-01

Infantile botulism is the result of ingestion of Clostridium botulinum spores, and is the most common form of infection with botulism in the United States. Ninety percent of cases occur in infants <6 months old. The infants typically present with vague symptoms such as hypotonia and poor feeding. This article reports an infant with confirmed infantile botulism that presented to the Emergency Department (ED) with complaints of decreased feeding and absence of bowel movements for >1 week. Review a case of infantile botulism, its diagnosis, and treatment. A 4-month-old healthy Caucasian male presented to the ED with a 6-day history of decreased feeding after referral from the pediatrician. He had not had a bowel movement for 9 days, and his parents were also concerned about increasing weakness, as he was no longer able to hold his head up on his own. In the ED, he was minimally interactive. His vital signs were within normal limits, and he had hypoactive bowel sounds and decreased tone throughout. He was admitted to the Children's Hospital and eventually transferred to the Pediatric Intensive Care Unit requiring intubation and mechanical ventilation. The botulism immunoglobulin was administered, and a diagnosis was confirmed with positive botulinum toxin in the stool samples. Full recovery was made by the infant. Awareness of the symptoms of botulism and a high degree of clinical suspicion is needed to make a prompt diagnosis. Copyright © 2013 Elsevier Inc. All rights reserved.

Genetics Home Reference: X-linked infantile nystagmus

MedlinePlus

... Free article on PubMed Central Thomas MG, Thomas S, Kumar A, Proudlock FA, Gottlob I. FRMD7-Related Infantile ... Roberts EO, Awan M, McLean R, Surendran M, Kumar AS, Farooq SJ, Degg C, Gale RP, Reinecke ...

A Formula for Early Infantile Autism.

ERIC Educational Resources Information Center

Roy, M. Aaron

Offered is an explanation for the development of early infantile autism as defined by L. Kanner which incorporates the behavior of the child, the behavior of the parent, and a critical time period of development. Writings of Kanner on the characteristics of autistic children, parental characteristics, and etiology are reviewed. The formula…

Utility of Shear Wave Elastography for Differentiating Biliary Atresia From Infantile Hepatitis Syndrome.

PubMed

Wang, Xiaoman; Qian, Linxue; Jia, Liqun; Bellah, Richard; Wang, Ning; Xin, Yue; Liu, Qinglin

2016-07-01

The purpose of this study was to investigate the potential utility of shear wave elastography (SWE) for diagnosis of biliary atresia and for differentiating biliary atresia from infantile hepatitis syndrome by measuring liver stiffness. Thirty-eight patients with biliary atresia and 17 patients with infantile hepatitis syndrome were included, along with 31 healthy control infants. The 3 groups underwent SWE. The hepatic tissue of each patient with biliary atresia had been surgically biopsied. Statistical analyses for mean values of the 3 groups were performed. Optimum cutoff values using SWE for differentiation between the biliary atresia and control groups were calculated by a receiver operating characteristic (ROC) analysis. The mean SWE values ± SD for the 3 groups were as follows: biliary atresia group, 20.46 ± 10.19 kPa; infantile hepatitis syndrome group, 6.29 ± 0.99 kPa; and control group, 6.41 ± 1.08 kPa. The mean SWE value for the biliary atresia group was higher than the values for the control and infantile hepatitis syndrome groups (P < .01). The mean SWE values between the control and infantile hepatitis syndrome groups were not statistically different. The ROC analysis showed a cutoff value of 8.68 kPa for differentiation between the biliary atresia and control groups. The area under the ROC curve was 0.997, with sensitivity of 97.4%, specificity of 100%, a positive predictive value of 100%, and a negative predictive value of 96.9%. Correlation analysis suggested a positive correlation between SWE values and age for patients with biliary atresia, with a Pearson correlation coefficient of 0.463 (P < .05). The significant increase in liver SWE values in neonates and infants with biliary atresia supports their application for differentiating biliary atresia from infantile hepatitis syndrome.

A practical approach for the use of oral isotretinoin for infantile acne.

PubMed

Barnes, Cheryl J; Eichenfield, Lawrence F; Lee, Jungho; Cunningham, Bari B

2005-01-01

Infantile acne is a rare occurrence. It is more common in boys and predominately occurs on the cheeks in infants between the ages of 1 and 16 months. Clinically, the lesions range from comedones to inflammatory papulopustules to cysts. Successful therapies include topical tretinoin, benzoyl peroxide and topical and oral erythromycin. For more serious cases, oral isotretinoin (Accutane) has been reported to successfully treat recalcitrant infantile cystic acne. We describe two additional patients with infantile cystic acne treated successfully with oral isotretinoin. The dose of isotretinoin used ranged from 0.2 mg/kg/day to 1.5 mg/kg/day. The treatment duration varied from 5 to 14 months. Careful monthly monitoring is recommended because of the many side effects reported with isotretinoin. Practical tips for the administration of oral isotretinoin in infants are reviewed.

A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

PubMed Central

Calkavur, Sebnem; Buyukinan, Muammer; Altay, Canan

2015-01-01

Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion. PMID:26576309

Looking for new treatments of Infantile Colic

PubMed Central

2014-01-01

Infantile colic is a common disturbance occurring in the first three months of life. It is a benign condition and one of the main causes of pediatric consultation in the early part of life because of its great impact on family life. Some pediatricians are prone to undervalue this issue mainly because of the lack of evidence based medicine guidelines. Up to now, there is no consensus concerning management and treatment. Literature reports growing evidence about the effectiveness of dietary, pharmacological, complementary and behavioral therapies as options for the management of infantile colic. Dietary approach, usually based on the avoidance of cow’s milk proteins in breast-feeding mothers and bottle-fed infants, more recently has seen the rise of new special formulas, such as partially hydrolyzed proteins and low lactose added with prebiotics or probiotics: their efficacy needs to be further documented. Investigated pharmacological agents are Simethicone and Cimetropium Bromide: the first is able to reduce bloating while the second could reduce fussing crying, but it has been tested only for severe infantile colic. No other pain relieving agents have been proposed until now, but some clinical trials are ongoing for new drugs. There is limited evidence supporting the use of complementary and alternative treatments (herbal supplements, manipulative approach and acupuncture) or behavioral interventions. Recent studies have focused the role of microbiota in the pathogenesis of this disturb and so new treatments, such as probiotics, have been proposed, but only few strains have been tested. Further investigations are needed in order to provide evidence-based guidelines. PMID:24898541

3D photography is a reliable method of measuring infantile haemangioma volume over time.

PubMed

Robertson, Sarah A; Kimble, Roy M; Storey, Kristen J; Gee Kee, Emma L; Stockton, Kellie A

2016-09-01

Infantile haemangiomas are common lesions of infancy. With the development of novel treatments utilised to accelerate their regression, there is a need for a method of assessing these lesions over time. Volume is an ideal assessment method because of its quantifiable nature. This study investigated whether 3D photography is a valid tool for measuring the volume of infantile haemangiomas over time. Thirteen children with infantile haemangiomas presenting to the Vascular Anomalies Clinic, Royal Children's Hospital/Lady Cilento Children's Hospital treated with propranolol were included in the study. Lesion volume was assessed using 3D photography at presentation, one month and three months follow up. Intrarater reliability was determined by retracing all images several months after the initial mapping. Interrater reliability of the 3D camera software was determined by two investigators, blinded to each other's results, independently assessing infantile haemangioma volume. Lesion volume decreased significantly between presentation and three-month follow-up (p<0.001). Volume intra- and interrater reliability were excellent with ICC 0.991 (95% CI 0.982, 0.995) and 0.978 (95% CI 0.955, 0.989), respectively. This study demonstrates images taken with the 3D LifeViz™ camera and lesion volume calculated with Dermapix® software is a reliable method for assessing infantile haemangioma volume over time. Copyright © 2016 Elsevier Inc. All rights reserved.

Infantile autism in children of immigrant parents. A population-based study from Göteborg, Sweden.

PubMed

Gillberg, C; Steffenburg, S; Börjesson, B; Andersson, L

1987-06-01

A population-based study of infantile autism from western Sweden has been completed. Urban children with autism more often than age-matched children in the general population had immigrant parents from 'exotic' countries. No such trend was seen in rural children with infantile autism.

Infantile fibrosarcoma of ethmoid sinus, misdiagnosed as an adenoid in a 5-year-old child

PubMed Central

Geramizadeh, Bita; Khademi, Bijan; Karimi, Mehran; Shekarkhar, Golsa

2015-01-01

Infantile fibrosarcoma of head and neck is rare and the presence of this tumor in ethmoid sinus is even more uncommon. To the best of our knowledge, <5 cases have been reported in the last 20 years in the English literature, so far, only one of which has been infantile type in a 15 months old girl. In this case report, we will explain our experience with a rare case of infantile fibrosarcoma originating from ethmoid sinus in a 5-year-old boy who presented with dyspnea and epistaxis. After biopsy, it was diagnosed as fibrosarcoma of sinus origin. PMID:26604519

Natural History of Infantile GM2 Gangliosidosis

PubMed Central

Bley, Annette E.; Giannikopoulos, Ourania A.; Hayden, Doug; Kubilus, Kim; Tifft, Cynthia J.

2011-01-01

OBJECTIVE: GM2 gangliosidoses are caused by an inherited deficiency of lysosomal β-hexosaminidase and result in ganglioside accumulation in the brain. Onset during infancy leads to rapid neurodegeneration and death before 4 years of age. We set out to quantify the rate of functional decline in infantile GM2 gangliosidosis on the basis of patient surveys and a comprehensive review of existing literature. METHODS: Patients with infantile GM2 gangliosidosis (N = 237) were surveyed via questionnaire by the National Tay Sachs & Allied Diseases Association (NTSAD). These data were supplemented by survival data from the NTSAD database and a literature survey. Detailed retrospective surveys from 97 patients were available. Five patients who had received hematopoietic stem cell transplantation were evaluated separately. The mortality rate of the remaining 92 patients was comparable to that of the 103 patients from the NTSAD database and 121 patients reported in the literature. RESULTS: Common symptoms at onset were developmental arrest (83%), startling (65%), and hypotonia (60%). All 55 patients who had learned to sit without support lost that ability within 1 year. Individual functional measures correlated with each other but not with survival. Gastric tube placement was associated with prolonged survival. Tay Sachs and Sandhoff variants did not differ. Hematopoietic stem cell transplantation was not associated with prolonged survival. CONCLUSIONS: We studied the timing of regression in 97 cases of infantile GM2 gangliosidosis and conclude that clinical disease progression does not correlate with survival, likely because of the impact of improved supportive care over time. However, functional measures are quantifiable and can inform power calculations and study design of future interventions. PMID:22025593

Probiotics for infantile colic: a systematic review.

PubMed

Anabrees, Jasim; Indrio, Flavia; Paes, Bosco; AlFaleh, Khalid

2013-11-15

Infantile colic is a common paediatric condition which causes significant parental distress. Increased intestinal coliform colonization in addition to alteration in Lactobacillus abundance and distribution may play an important role in its pathogenesis. The objectives of this systematic review are to evaluate the efficacy of probiotic supplementation in the reduction of crying time and successful treatment of infantile colic. Literature searches were conducted of MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials. Only randomized controlled trials enrolling term, healthy infants with colic were included. A meta-analysis of included trials was performed utilizing the Cochrane Collaboration methodology. Three trials that enrolled 220 breastfed infants met inclusion criteria, of which 209 infants were available for analysis. Two of the studies were assessed as good quality. Lactobacillus reuteri (strains-American Type Culture Collection Strain 55730 and DSM 17 938) was the only species utilized in the therapeutic intervention. Two of the trials were industry funded. Probiotic supplementation compared to simethicone or placebo significantly and progressively shortened crying times to 7 days reaching a plateau at three weeks post initiation of therapy [mean difference -56.03 minutes; 95% CI (-59.92, -52.15)]. Similarly, probiotics compared to placebo significantly increased the treatment success of infantile colic with a relative risk (RR) of 0.06; 95% CI (0.01, 0.25) and a number needed to treat of 2. Although L. reuteri may be effective as a treatment strategy for crying in exclusively breastfed infants with colic, the evidence supporting probiotic use for the treatment of infant colic or crying in formula-fed infants remains unresolved. Results from larger rigorously designed studies will help draw more definitive conclusions.

Probiotics for the Treatment of Infantile Colic: A Systematic Review.

PubMed

Schreck Bird, Anna; Gregory, Philip J; Jalloh, Mohamed A; Risoldi Cochrane, Zara; Hein, Darren J

2017-06-01

To evaluate whether clinical data support the safety and efficacy of probiotics for the management of infantile colic. Probiotics have been suggested as a potential strategy for infantile colic, and the specific species that have been studied in healthy infants are considered to be safe. A systematic review was conducted to identify randomized controlled trials (RCTs) evaluating the use of probiotic supplementation in infants with colic. RCTs with a primary end point assessing crying or fussing time were selected. A meta-analysis comparing "responders" to "nonresponders" in infants receiving probiotic versus control was conducted. The quality of trials selected was assessed. Five RCTs assessing 2 different strains of the probiotic Lactobacillus reuteri in mostly breastfed infants were identified. Analysis of response rates showed that infants receiving probiotics had a 2.3-fold greater chance of having a 50% or greater decrease in crying/fussing time compared to controls ( P = .01). Probiotic supplementation was not associated with any adverse events. Supplementation with the probiotic L. reuteri in breastfed infants appears to be safe and effective for the management of infantile colic. Further research is needed to determine the role of probiotics in infants who are formula-fed.

Analysis of preexistent vertebral rotation in the normal infantile, juvenile, and adolescent spine.

PubMed

Janssen, Michiel M A; Kouwenhoven, Jan-Willem M; Schlösser, Tom P C; Viergever, Max A; Bartels, Lambertus W; Castelein, René M; Vincken, Koen L

2011-04-01

Vertebral rotation was systematically analyzed in the normal, nonscoliotic thoracic spine of children aged 0 to 16 years. Subgroups were created to match the infantile, juvenile, and adolescent age groups according to the criteria of the Scoliosis Research Society. To determine whether a distinct pattern of vertebral rotation in the transverse plane exists in the normal, nonscoliotic infantile, juvenile, and adolescent spine. We assume that, once the spine starts to deteriorate into a scoliotic deformity, it will follow a preexisting rotational pattern. Recently, we identified a rotational pattern in the normal nonscoliotic adult spine that corresponds to the most common curve types in adolescent idiopathic scoliosis. In infantile idiopathic scoliosis, curves are typically left sided and boys are affected more often than girls, whereas in adolescent idiopathic scoliosis, the thoracic curve is typically right sided and predominantly girls are affected. The present study is the first systematic analysis of vertebral rotation in the normal children's spine. Vertebral rotation in the transverse plane of T2-T12 was measured by using a semiautomatic method on 146 computed tomographic scans of children (0-16 years old) without clinical or radiologic evidence of spinal pathology. Scans were mainly made for reasons such as recurrent respiratory tract infections, malignancies, or immune disorders. Vertebral rotational patterns were analyzed in the infantile (0-3-year-old), juvenile (4-9-year-old), and adolescent (10-16-year-old) boys and girls. In the infantile spine, vertebrae T2-T6 were significantly rotated to the left (P < 0.001). In the juvenile spine, T4 was significantly rotated to the left. In the adolescent spine, T6-T12 were significantly rotated to the right (P ≤ 0.001). Rotation to the left was more pronounced in infantile boys than in the girls (P = 0.023). In juvenile and adolescent children, no statistical differences in rotation were found between the sexes

From Infantile Citizens to Infantile Institutions: The Metaphoric Transformation of Political Economy in the 2008 Housing Market Crisis

ERIC Educational Resources Information Center

Foley, Megan

2012-01-01

The logic of political economy depends on a domestic metaphor, using the "oikos" or household as a model for the "polis." Historically, this metaphor has imagined citizens as the children of a paternal state. However during the 2008 housing crisis, this metaphor was turned upside down, depicting citizens as the parents of infantile state…

Infantile Hemangiomas and Retinopathy of Prematurity: Clues to the Regulation of Vasculogenesis

PubMed Central

Hyland, Rachael M.; Komlósi, Katalin; Alleman, Brandon W.; Tolnai, Marina; Wood, Laura M.; Bell, Edward F.; Ertl, Tibor

2013-01-01

Retinopathy of prematurity (ROP) and infantile hemangiomas are vascular disorders that may share common mechanisms. This study examined a potential clinical association between these disorders in populations of preterm infants at two hospitals in the U.S. and Hungary. Clinically collected data from infants with gestational ages less than 32 weeks born between May 1, 2007 and December 31, 2010 seen in the University of Iowa Children’s Hospital or the Department of Obstetrics and Gynecology, University of Pécs, were abstracted from electronic medical records and entered into a study database. Demographic and clinical variables were examined as potential covariates to the disorders of interest. Data were initially analyzed by center and then combined through meta-analysis. Six hundred eighty-four subjects were studied, 236 from Pécs and 448 from Iowa. There were no significant demographic differences between populations. Univariate analysis on each study population yielded covariates to ROP in each population, including infantile hemangioma, which were entered into a logistic regression model. These models were combined through random effects meta-analysis and demonstrated a significant relationship between infantile hemangioma and ROP (odds ratio=1.84, 95% confidence interval 1.08–3.12). Conclusion Infantile hemangioma and ROP co-occur in premature infant populations. Further studies are needed to investigate the pathogenesis of both disorders. PMID:23408311

Infantile aperiodic alternating nystagmus.

PubMed

Hertle, Richard W; Reznick, Leah; Yang, Dongsheng

2009-01-01

This study identifies the clinical and ocular motility characteristics of the periodic and aperiodic forms of infantile alternating nystagmus (IAPAN) and establishes the range of electrophysiological and clinical characteristics while providing clues to its presence and pathophysiology. Seventy-eight patients with ocular oscillations consistent with IAPAN were reported. Outcome variables were: age, follow-up in months, vision, strabismus, other eye and systemic abnormalities, head position, periodicity, cycle and null period duration, foveation time, waveforms, and cycle symmetry. Age range was 1 to 67 years, 50% had pure periodic and aperiodic forms, 46% had albinism, 26% had binocular acuity of 20/40 or greater, 72% had strabismus, 35% had amblyopia, 31% had other eye disease, 14% had systemic disease, 87% had an anomalous head posture, and 65% had binocular directional asymmetry. The periodic cycle averaged 224 seconds and the aperiodic cycle ranged from 2 to more than 300 seconds. One in three patients with strabismus and nystagmus periodicity had a static head posture. Fifteen percent of the infantile nystagmus syndrome population had either the periodic or aperiodic form. A changing null period is often clinically missed because of long or irregular cycles, decreased acuity, associated strabismus, and either a nonexistent or inconsistent head posture. The changing null period is easier to recognize using eye movement recordings or if the non-preferred eye is occluded and the preferred eye is examined with the head straight and gaze in primary position for at least 5 to 7 minutes. The recognition of this variant has profound treatment implications.

Part One: Infantile Spasms--The New Consensus

ERIC Educational Resources Information Center

Pellock, John

2011-01-01

Infantile spasms (IS, West syndrome) represent a difficult to treat and sometimes not immediately recognized form of epilepsy which is relatively rare. West Syndrome or IS is one of the most recognized types of epileptic encephalopathy, a form of epilepsy usually associated with developmental regression and delay, frequently difficult to treat and…

Effectiveness of treatments for infantile colic: systematic review

PubMed Central

Lucassen, P L B J; Assendelft, W J J; Gubbels, J W; van Eijk, J T M; van Geldrop, W J; Neven, A Knuistingh

1998-01-01

Objective: To evaluate the effectiveness of diets, drug treatment, and behavioural interventions on infantile colic in trials with crying or the presence of colic as the primary outcome measure. Data sources: Controlled clinical trials identified by a highly sensitive search strategy in Medline (1966-96), Embase (1986-95), and the Cochrane Controlled Trials Register, in combination with reference checking for further relevant publications. Keywords were crying and colic. Study selection: Two independent assessors selected controlled trials with interventions lasting at least 3 days that included infants younger than 6 months who cried excessively. Data synthesis: Methodological quality was assessed by two assessors independently with a quality assessment scale (range 0-5). Effect sizes were calculated as percentage success. Effect sizes of trials using identical interventions were pooled using a random effects model. Results: 27 controlled trials were identified. Elimination of cows’ milk protein was effective when substituted by hypoallergenic formula milks (effect size 0.22 (95% confidence interval 0.09 to 0.34)). The effectiveness of substitution by soy formula milks was unclear when only trials of good methodological quality were considered. The benefit of eliminating cows’ milk protein was not restricted to highly selected populations. Dicyclomine was effective (effect size 0.46 ( 0.33 to 0.60)), but serious side effects have been reported. The advice to reduce stimulation was beneficial (effect size 0.48 (0.23 to 0.74)), whereas the advice to increase carrying and holding seemed not to reduce crying. No benefit was shown for simethicone. Uncertainty remained about the effectiveness of low lactose formula milks. Conclusions: Infantile colic should preferably be treated by advising carers to reduce stimulation and with a one week trial of a hypoallergenic formula milk. Key messages Infantile colic is common during the first months of life, but its cause is

Infantile colic: a systematic review of medical and conventional therapies.

PubMed

Hall, Belinda; Chesters, Janice; Robinson, Anske

2012-02-01

Infantile colic is a prevalent and distressing condition for which there is no proven standard therapy. The aim of this paper is to review medical and conventional treatments for infantile colic. A systematic literature review was undertaken of studies on medical and conventional interventions for infantile colic from 1980 to March 2009. The results and methodological rigour of included studies were analysed using the CONSORT (Consolidated Standards Of Reporting Trials) 2001 statement checklist and Centre for Evidence Based Medicine critical appraisal tools. Nineteen studies and two literature reviews were included for review. Pharmacological studies on Simethicone gave conflicting results and with Dicyclomine hydrochloride and Cimetropium bromide results were favourable but side effects were noted along with issues in study methodology. Some nutritional studies reported favourable results for the use of hydrolysed formulas in bottle-fed infants or low-allergen maternal diets in breastfed infants but not for the use of additional fibre or lactase. There were several issues in regards to methodological rigour. Behavioural studies on the use of increased stimulation gave unfavourable results, whereas results from the use of decreased stimulation and contingent music were favourable. These studies demonstrated poor methodological rigour. There is some scientific evidence to support the use of a casein hydrolysate formula in formula-fed infants or a low-allergen maternal diet in breastfed infants with infantile colic. However, there is little scientific evidence to support the use of Simethicone, Dicyclomine hydrochloride, Cimetropium bromide, lactase, additional fibre or behavioural interventions. Further research of good methodological quality on low-allergenic formulas and maternal diets is indicated. © 2011 The Authors. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

[Infantile haemangioma: clinical and demographic characteristics, experiences in the treatment].

PubMed

Csoma, Zsanett Renáta; Dalmády, Szandra; Ábrahám, Rita; Rózsa, Tamás; Rácz, Katalin; Kemény, Lajos

2017-10-01

Infantile haemangiomas are the most common vascular tumours of infancy. The vast majority of the lesions do not require dermatological treatment due to their unique clinical course and the high rate of spontaneous regression. Approximately 10-15% of the tumours result in severe complications and sequale, requiring special management and close follow-up. The aim of the present study was to assess the data of the patients treated with infantile haemangiomas, and to summarize the results of the therapy during 4.5 years of study period, in the Paediatric Dermatology Outpatient Clinic of the Department of Dermatology and Allergology, at the University of Szeged. Demographic data of the infants (gender, gestational age and weight, perinatal history of the infant and medical history of mothers), exact date of the visits at Paediatric Dermatology Outpatient Clinic and tumour characteristics (number, subtype, anatomical localisation and complications) were analysed in details. Treatment modalities and therapy intervals, outcomes and the adverse events of the therapies were also discussed in the survey. During the study period, 96 infants with 163 infantile haemangiomas were observed. 54 patients required regular observations, while 42 infants required local or systemic beta-blocker therapy. All of the tumours treated with local or systemic therapy showed marked clinical regression; adverse effects were observed in only 6 cases. The gestational age and gestational weight of infants requiring beta-blocker therapy was significantly lower as compared to children needed only observation. Systemic propranolol is currently the first-line treatment modality for complicated infantile haemangiomas. Our results confirm the significant therapeutic efficacy of propranolol. Early introduction of the treatment is relevant; unfortunately a great proportion of patients are referred late to Paediatric Dermatology Centres. Orv Hetil. 2017; 158(39): 1535-1544.

Infantile fibrosarcoma of the penis in a 2-year-old boy.

PubMed

Taib, Fahisham; Mohamad, Norsarwany; Mohamed Daud, Mohamed Ashraf; Hassan, Aniza; Singh, Mutum Samarendra; Nasir, Ariffin

2012-10-01

Fibrosarcoma is rare in the pediatric age group. It generally involves the extremities and the trunk but rarely involves the genital area. We report a case of a large fungating infantile fibrosarcoma of the penis in a 2-year-old Malay boy. Partial recovery of the penile structure was achieved after chemotherapy. The difficulty in managing the social and surgical aspect of this case is discussed in our report. To the best of our knowledge, this is the first case report of infantile fibrosarcoma involving the penis in an Asian region. Copyright © 2012 Elsevier Inc. All rights reserved.

Probiotics for infantile colic: a systematic review

PubMed Central

2013-01-01

Background Infantile colic is a common paediatric condition which causes significant parental distress. Increased intestinal coliform colonization in addition to alteration in Lactobacillus abundance and distribution may play an important role in its pathogenesis. The objectives of this systematic review are to evaluate the efficacy of probiotic supplementation in the reduction of crying time and successful treatment of infantile colic. Methods Literature searches were conducted of MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials. Only randomized controlled trials enrolling term, healthy infants with colic were included. A meta-analysis of included trials was performed utilizing the Cochrane Collaboration methodology. Results Three trials that enrolled 220 breastfed infants met inclusion criteria, of which 209 infants were available for analysis. Two of the studies were assessed as good quality. Lactobacillus reuteri (strains-American Type Culture Collection Strain 55730 and DSM 17 938) was the only species utilized in the therapeutic intervention. Two of the trials were industry funded. Probiotic supplementation compared to simethicone or placebo significantly and progressively shortened crying times to 7 days reaching a plateau at three weeks post initiation of therapy [mean difference −56.03 minutes; 95% CI (−59.92, -52.15)]. Similarly, probiotics compared to placebo significantly increased the treatment success of infantile colic with a relative risk (RR) of 0.06; 95% CI (0.01, 0.25) and a number needed to treat of 2. Conclusions Although L. reuteri may be effective as a treatment strategy for crying in exclusively breastfed infants with colic, the evidence supporting probiotic use for the treatment of infant colic or crying in formula-fed infants remains unresolved. Results from larger rigorously designed studies will help draw more definitive conclusions. PMID:24238101

Symmetrical infantile thalamic degeneration in two sibs

PubMed Central

Abuelo, Dianne N; Barsel-Bowers, Gail; Tutschka, Barbara G; Ambler, Mary; Singer, Don B

1981-01-01

This is the first observation of two cases of symmetrical infantile thalamic degeneration with cell mineralisation in a family. Although it cannot be established at present, autosomal recessive inheritance of a metabolic error causing or predisposing to damage to specific areas of the central nervous system is a possible aetiology for this condition. Images PMID:7334503

Preventive Effect of Residential Green Space on Infantile Atopic Dermatitis Associated with Prenatal Air Pollution Exposure.

PubMed

Lee, Ji-Young; Lamichhane, Dirga Kumar; Lee, Myeongjee; Ye, Shinhee; Kwon, Jung-Hyun; Park, Myung-Sook; Kim, Hwan-Cheol; Leem, Jong-Han; Hong, Yun-Chul; Kim, Yangho; Ha, Mina; Ha, Eunhee

2018-01-09

Few birth cohort studies have examined the role of traffic-related air pollution (TRAP) in the development of infantile atopic dermatitis (AD), but none have investigated the role of preventive factors such as green spaces. The aim of this study was to investigate whether exposure to nitrogen dioxide (NO₂) and particulate matter with an aerodynamic diameter of <10 μm (PM 10 ) during pregnancy is associated with increased risk of development of AD in 6-month-old children and also to examine how this association changes with residential green space. This study used prospective data from 659 participants of the Mothers and Children's Environmental Health study. Subjects were geocoded to their residential addresses and matched with air pollution data modeled using land-use regression. Information on infantile AD was obtained by using a questionnaire administered to the parents or guardians of the children. The association between infantile AD and exposure to NO₂ and PM 10 was determined using logistic regression models. We assessed the effects of residential green spaces using stratified analyses and by entering product terms into the logistic regression models. The risk of infantile AD significantly increased with an increase in air pollution exposure during the first trimester of pregnancy. The adjusted odds ratio (OR) and 95% confidence interval (CI) were 1.219 (1.023-1.452) per 10 μg/m³ increase in PM 10 and 1.353 (1.027-1.782) per 10 ppb increase in NO₂. An increase in the green space within 200 m of residence was associated with a decreased risk of AD (OR = 0.996, 95% CI: 0.993-0.999). The stratified analysis of residential green space revealed stronger associations between infantile AD and PM 10 and NO₂ exposure during the first trimester in the areas in the lower tertiles of green space. This study indicated that exposure to TRAP during the first trimester of pregnancy is associated with infantile AD. Less residential green space may intensify the

Gratification disorder ("infantile masturbation"): a review.

PubMed

Nechay, A; Ross, L M; Stephenson, J B P; O'Regan, M

2004-03-01

Little has been published on gratification disorder ("infantile masturbation") in early childhood. To expand on the profile of patients diagnosed with this condition. Retrospective case note review; Fraser of Allander Neurosciences Unit paediatric neurology outpatient department 1972-2002. Thirty one patients were diagnosed (11 males and 20 females). Twenty one were referred for evaluation of possible epileptic seizures or epilepsy. The median age at first symptoms was 10.5 months (range 3 months to 5 years 5 months). The median age at diagnosis was 24.5 months (range 5 months to 8 years). The median frequency of events was seven times per week, and the median length 2.5 minutes. Events occurred in any situation in 10 children, and in a car seat in 11. Types of behaviour manifested were dystonic posturing in 19, grunting in 10, rocking in 9, eidetic imagery in 7, and sweating in 6. Two children had been previously diagnosed as having definite epilepsy. In nine cases home video was invaluable in allowing confident diagnosis. Gratification disorder, otherwise called infantile masturbation, is an important consideration in the differential diagnosis of epilepsy and other paroxysmal events in early childhood. Home video recording of events often prevents unnecessary investigations and treatments.

Gratification disorder ("infantile masturbation"): a review

PubMed Central

Nechay, A; Ross, L; Stephenson, J; O'Regan, M

2004-01-01

Background: Little has been published on gratification disorder ("infantile masturbation") in early childhood. Aims: To expand on the profile of patients diagnosed with this condition. Methods: Retrospective case note review; Fraser of Allander Neurosciences Unit paediatric neurology outpatient department 1972–2002. Results: Thirty one patients were diagnosed (11 males and 20 females). Twenty one were referred for evaluation of possible epileptic seizures or epilepsy. The median age at first symptoms was 10.5 months (range 3 months to 5 years 5 months). The median age at diagnosis was 24.5 months (range 5 months to 8 years). The median frequency of events was seven times per week, and the median length 2.5 minutes. Events occurred in any situation in 10 children, and in a car seat in 11. Types of behaviour manifested were dystonic posturing in 19, grunting in 10, rocking in 9, eidetic imagery in 7, and sweating in 6. Two children had been previously diagnosed as having definite epilepsy. In nine cases home video was invaluable in allowing confident diagnosis. Conclusion: Gratification disorder, otherwise called infantile masturbation, is an important consideration in the differential diagnosis of epilepsy and other paroxysmal events in early childhood. Home video recording of events often prevents unnecessary investigations and treatments. PMID:14977696

Infantile botulism: pitfalls in electrodiagnosis.

PubMed

Sheth, R D; Lotz, B P; Hecox, K E; Waclawik, A J

1999-03-01

Botulism in infants, unless recognized early, is associated with high mortality and morbidity. The diagnosis is suspected when infants present with sudden onset of weakness, respiratory failure, and constipation and is confirmed by demonstration of botulinum toxin in stool several weeks later. Electrodiagnosis allows quick and reliable confirmation of botulism. Low-amplitude compound muscle action potentials, tetanic or post-tetanic facilitation, and the absence of post-tetanic exhaustion support the diagnosis. Two infants with confirmed botulism did not exhibit the characteristic electrodiagnostic features, demonstrating the pitfalls in electrodiagnosis of infantile botulism.

Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.

PubMed

Lai, Chih-Jou; Hsu, Ting-Rong; Yang, Chia-Feng; Chen, Shyi-Jou; Chuang, Ya-Chin; Niu, Dau-Ming

2016-12-01

Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria. Cognitive and motor development were evaluated using the Bayley Scales of Infant and Toddler Development-Third Edition at 6, 12, and 24 months of age. The patients who were treated very early demonstrate normal cognitive development with no significant change in cognition during this period (P = .18 > .05). The cognitive development was positively correlated with motor development (r = 0.533, P = .011). The results indicated that very early enzyme replacement therapy could protect cognitive development in patients with infantile-onset Pompe disease up to 24 months of age. © The Author(s) 2016.

Predictive value of the cow's milk skin prick test in infantile colic.

PubMed

Moravej, Hossein; Imanieh, Mohammad H; Kashef, Sara; Handjani, Farhad; Eghterdari, Fardin

2010-01-01

Infantile colic is a common problem among young infants. Cow's milk allergy has been suggested as one of the causes. We aimed to investigate the value of the cow's milk skin test for the diagnosis of cow's milk allergy in exclusively breast-fed infants with infantile colic. Exclusively breast-fed infants with infantile colic were enrolled in this study. On the first visit, the average hours of crying of the infant in a 24-h period were recorded and the cow's milk skin test was performed. If the infant had a positive skin test, elimination of cow's milk from the mothers' diet was advised. Infants with negative skin tests were divided into case and control groups. Cow's milk was eliminated from the diet of mothers in the case group. After 2 weeks, the number of hours of crying were recorded again. The reduction in the crying hours was compared between the two groups using the chi-square test. Skin tests were positive in 3 of 114 cases (2.6%) of infantile colic. All three cases recovered completely following elimination of cow's milk from the mother's diet. Among the 111 patients with negative skin tests, 77 patients completed the study: 35 in the case group and 42 in the control group. The reduction in crying hours in infants in the case group was not significantly different from that in the control group. Elimination of cow's milk from the mothers' diet is not beneficial for infants with a negative skin test. Infants with a positive skin test may benefit from this management.

Paraphilic infantilism, diaperism and pedophilia: A review.

PubMed

Doshi, Sunil M; Zanzrukiya, Kalpesh; Kumar, Lavlesh

2018-05-01

Paraphilic disorders range from nearly normal behaviour to a behaviour which may be considered as destructive or menacing to the society at large. In accordance with Diagnostic and Statistical Manual of Mental Disorders-V, the terms Paraphilia and Paraphilic disorders, denote different interpretations. Multiple paraphilias connected to childhood either directly or indirectly has been documented in scientific literature. Paraphilic Infantilism, Diaperism and Pedophilia constitute major portion among them. Paraphilic infantilism denotes paraphilic desire of being a baby. Diaperism deals with fetishistic behaviour in relation to diapers and pedophilia stands for sexual attraction towards children. Behaviourally these three paraphilias do share some characteristics and show overlapping of certain features, but psychologically they are diverse. In a number of literature on digital media, the terms have been used interchangeably or are described in a manner that creates confusion. However, when described individually they are precisely written, hence it necessitates to be elaborated collectively to surpass the current trends of mixing them. The review focuses on behavioral, developmental, psychological and legal aspects of these paraphilias. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

PubMed Central

Thomas, Mervyn G.; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Thomas, Shery; Araki, Masasuke; Talbot, Chris J.; McLean, Rebecca J.; Surendran, Mylvaganam; Taylor, Katie; Leroy, Bart P.; Moore, Anthony T.; Hunter, David G.; Hertle, Richard W.; Tarpey, Patrick; Langmann, Andrea; Lindner, Susanne; Brandner, Martina

2011-01-01

Periodic alternating nystagmus consists of involuntary oscillations of the eyes with cyclical changes of nystagmus direction. It can occur during infancy (e.g. idiopathic infantile periodic alternating nystagmus) or later in life. Acquired forms are often associated with cerebellar dysfunction arising due to instability of the optokinetic-vestibular systems. Idiopathic infantile periodic alternating nystagmus can be familial or occur in isolation; however, very little is known about the clinical characteristics, genetic aetiology and neural substrates involved. Five loci (NYS1-5) have been identified for idiopathic infantile nystagmus; three are autosomal (NYS2, NYS3 and NYS4) and two are X-chromosomal (NYS1 and NYS5). We previously identified the FRMD7 gene on chromosome Xq26 (NYS1 locus); mutations of FRMD7 are causative of idiopathic infantile nystagmus influencing neuronal outgrowth and development. It is unclear whether the periodic alternating nystagmus phenotype is linked to NYS1, NYS5 (Xp11.4-p11.3) or a separate locus. From a cohort of 31 X-linked families and 14 singletons (70 patients) with idiopathic infantile nystagmus we identified 10 families and one singleton (21 patients) with periodic alternating nystagmus of which we describe clinical phenotype, genetic aetiology and neural substrates involved. Periodic alternating nystagmus was not detected clinically but only on eye movement recordings. The cycle duration varied from 90 to 280 s. Optokinetic reflex was not detectable horizontally. Mutations of the FRMD7 gene were found in all 10 families and the singleton (including three novel mutations). Periodic alternating nystagmus was predominantly associated with missense mutations within the FERM domain. There was significant sibship clustering of the phenotype although in some families not all affected members had periodic alternating nystagmus. In situ hybridization studies during mid-late human embryonic stages in normal tissue showed restricted

Maternal consumption of dairy products, calcium, and vitamin D during pregnancy and infantile allergic disorders.

PubMed

Miyake, Yoshihiro; Tanaka, Keiko; Okubo, Hitomi; Sasaki, Satoshi; Arakawa, Masashi

2014-07-01

Epidemiologic evidence of the association between maternal intake of dairy foods, calcium, and vitamin D during pregnancy and childhood allergic disorders is inconclusive. To examine the association between maternal intake of dairy foods, calcium, and vitamin D during pregnancy and childhood allergic disorders in Japanese children aged 23 to 29 months. Study participants were 1,354 mother-child pairs. Maternal intake during pregnancy was assessed with a validated diet history questionnaire administered between April 2007 and March 2008. Wheeze and eczema, defined according to criteria of the International Study of Asthma and Allergies in Childhood, and physician-diagnosed asthma and atopic eczema were assessed via a questionnaire completed by mothers. Higher maternal intake of total dairy products during pregnancy was significantly associated with a reduced risk of infantile eczema (adjusted odds ratio [OR] between extreme quartiles, 0.64; 95% confidence interval [CI], 0.42-0.98). Higher maternal intake of cheese during pregnancy was significantly related to a reduced risk of physician-diagnosed infantile asthma (adjusted OR between extreme quartiles, 0.44; 95% CI, 0.18-0.97). Maternal intake levels of yogurt and calcium during pregnancy were significantly inversely associated with physician-diagnosed infantile atopic eczema (adjusted ORs between extreme quartiles, 0.49 and 0.34; 95% CI, 0.20-1.16 and 0.12-0.84; P for trend = .01 and .03, respectively). Maternal intake of vitamin D during pregnancy was significantly positively associated with infantile eczema (adjusted OR between extreme quartiles, 1.63; 95% CI, 1.07-2.51). Higher maternal intake of total dairy products, cheese, yogurt, and calcium during pregnancy may reduce the risk of infantile eczema, physician-diagnosed asthma, physician-diagnosed atopic eczema, and physician-diagnosed atopic eczema, respectively. Higher maternal intake of vitamin D during pregnancy may increase the risk of infantile eczema

Infantile sexuality: Its place in the conceptual developments of Anna Freud and Donald W. Winnicott.

PubMed

Joyce, Angela

2016-06-01

This essay explores the place of infantile sexuality in the theories of Anna Freud and Donald W Winnicott. Both Anna Freud and D.W. Winnicott incorporated and at the same time changed the classical psychoanalytic account of infantile sexuality and the instinctual drives. Whilst Anna Freud remained closer to her father's original conceptualization, she developed a multidimensional model of development which gave the drives a foundational status whist also maintaining their significance in giving meaning and texture to children's subjective experience. Winnicott also retained much of S. Freud's original theorizing except that in a fundamental way he turned it on its head when considering earliest development. For him the establishment of the self was paramount, and the drives and infantile sexuality merely served to give substance to that self. Copyright © 2016 Institute of Psychoanalysis.

Inflammatory myofibroblastic tumors of the lung carrying a chimeric A2M-ALK gene: report of 2 infantile cases and review of the differential diagnosis of infantile pulmonary lesions.

PubMed

Tanaka, Mio; Kohashi, Kenichi; Kushitani, Kei; Yoshida, Misa; Kurihara, Sho; Kawashima, Masumi; Ueda, Yuka; Souzaki, Ryota; Kinoshita, Yoshiaki; Oda, Yoshinao; Takeshima, Yukio; Hiyama, Eiso; Taguchi, Tomoaki; Tanaka, Yukichi

2017-08-01

We report 2 infantile cases of pulmonary tumor carrying a chimeric A2M-ALK gene. A2M-ALK is a newly identified anaplastic lymphoma kinase (ALK)-related chimeric gene from a tumor diagnosed as fetal lung interstitial tumor (FLIT). FLIT is a recently recognized infantile pulmonary lesion defined as a mass-like lesion that morphologically resembles the fetal lung. Grossly, FLIT characteristically appears as a well-circumscribed spongy mass, whereas the tumors in these patients were solid and firm. Histologically, the tumors showed intrapulmonary lesions composed of densely proliferating polygonal or spindle-shaped mesenchymal cells with diffuse and dense infiltrations of inflammatory cells forming microcystic or micropapillary structures lined by thyroid transcription factor 1-positive pneumocytes, favoring inflammatory myofibroblastic tumor rather than FLIT. The proliferating cells were immunoreactive for ALK, and A2M-ALK was identified in both tumors with reverse-transcription polymerase chain reaction. The dense infiltration of inflammatory cells, immunoreactivity for ALK, and identification of an ALK-related chimeric gene suggested a diagnosis of inflammatory myofibroblastic tumor. Histologically, most reported FLITs show sparse inflammatory infiltrates and a relatively low density of interstitial cells in the septa, although prominent infiltration of inflammatory cells and high cellularity of interstitial cells are seen in some FLITs. The present cases suggest that ALK rearrangements, including the chimeric A2M-ALK gene, may be present in these infantile pulmonary lesions, especially those with inflammatory cell infiltration. We propose that these infantile pulmonary lesions containing a chimeric A2M-ALK gene be categorized as a specific type of inflammatory myofibroblastic tumor that develops exclusively in neonates and infants. Copyright © 2017 Elsevier Inc. All rights reserved.

Serial elongation derotation flexion (EDF) casting for patients with infantile and juvenile scoliosis.

PubMed

Canavese, Federico; Rousset, Marie; Mansour, Mounira; Samba, Antoine; Dimeglio, Alain

2016-02-01

Infantile and juvenile scoliosis, among different types of spinal deformity, is still a challenge for pediatric orthopedic surgeons. The ideal treatment of infantile and juvenile scoliosis has not yet been identified as both clinicians and surgeons still face multiple challenges, including preservation of the thoracic spine, thoracic cage, lung growth and cardiac function without reducing spinal motion. Elongation, derotation, flexion (EDF) casting technique is a custom-made thoracolumbar cast based on a three dimensional correction concept. This cast offers three-dimensional correction and can control the evolution of the deformity in some cases. Spinal growth can be guided by EDF casting as it can influence the initially curved spine to grow straighter. This article aimed to provide a comprehensive review of how infantile and juvenile scoliosis can affect normal spine and thorax and how these deformities can be treated with serial EDF casting technique. A current literature review is mandatory in order to understand the principles of the serial EDF casting technique and the effectiveness of conservative treatment in young and very young patients.

Three solutions to a single problem: alternative casting frames for treating infantile idiopathic scoliosis.

PubMed

Halanski, Matthew A; Harper, Benjamin L; Cassidy, Jeffry A; Crawford, Haemish A

2013-07-01

This is a technique article discussing 3 alternative frames for casting children with infantile scoliosis. To provide surgeons with alternatives to expensive specialized casting tables to allow local treatment of these children utilizing readily available materials present at most institutions. Casting for infantile scoliosis has become more popular as reports have shown promising results with this technique without the morbidity and complications associated with more invasive procedures. However, without a specialized casting table, treating these patients has been limited to a few centers throughout the country often causing patients to travel large distances to receive care. Three different alternatives to commercially available casting frames are presented. Requirements, setup, and techniques are discussed. Each surgeon has had success with each of these frames. These provide adequate support and traction while allowing enough access to the trunk to apply a well-molded cast. Cotrel/Metha casting for infantile scoliosis can be accomplished without a specialized table using commonly available equipment.

Clinical profile of vigabatrin as monotherapy for treatment of infantile spasms

PubMed Central

Lerner, Jason T; Salamon, Noriko; Sankar, Raman

2010-01-01

Vigabatrin, the first therapeutic agent to be approved by the Food and Drug Administration for the treatment of infantile spasms, as well as for adjunctive use in the treatment of refractory complex partial epilepsy, represents an important advance for patients with difficult-to-manage epilepsy. This review summarizes the complex history, chemistry, and pharmacology, as well as the clinical data leading to the approval of vigabatrin for infantile spasms in the US. The long path to its approval reflects the visual system and white matter toxicity concerns with this agent. This review provides a brief description of these concerns, and the regulatory safety monitoring and mitigation systems that have been put in place to enhance benefit over risk. PMID:21127692

Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.

PubMed

Mahmood, Asif; Berry, Jay; Wenger, David A; Escolar, Maria; Sobeih, Magdi; Raymond, Gerald; Eichler, Florian S

2010-05-01

Metachromatic leukodystrophy is a rare disorder with great clinical variability. We report the first case of triplets with the late infantile form of the disease and their systematic progression of symptoms. We reviewed the literature and identified all human studies that reported new cases since 1921. We analyzed survival by decade to assess the impact of historical changes in the management of care. Mean age at death and the 5-year survival from onset of symptoms for late infantile, juvenile, and adult phenotypes were 4.2 years and 24.9%, 17.4 years and 70.3%, and 43.1 years and 88.6%, respectively. The 5-year survival of cases reported after 1990 was significantly better than cases reported before 1970 in all subtypes of metachromatic leukodystrophy (late infantile: 52% vs 14%, juvenile: 100% vs 46%, adult: 95% vs 67%). Survival in the late infantile subtype was worse than that in other subtypes. Survival significantly improved over time in all subtypes.

Infantile-onset Pompe disease with neonatal debut

PubMed Central

Martínez, Miriam; Romero, Mar García; Guereta, Luis García; Cabrera, Marta; Regojo, Rita M.; Albajara, Luis; Couce, Maria L.; de Pipaon, Miguel Saenz

2017-01-01

Abstract Rationale: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment. Patient concerns: We report a case of a newborn with infantile-onset Pompe disease diagnosed in the first days of life who did not undergo universal neonatal screening. The patient was asymptomatic, with a general physical examination revealing only a murmur. The clinical presentation was dominated by the neonatal detection of hypertrophic cardiomyopathy, without hypotonia or macroglossia. Diagnoses: Pompe disease was confirmed in the first week of life by GAA activity in dried blood spots, and a GAA genetic study showed the homozygous mutation p.Arg854X. Interventions: Parents initially refused replacement therapy. Outcomes: The patient experienced recurrent episodes of ventricular fibrillation during central line placement and could not be resuscitated. Lessons: Although Pompe disease is rare, and universal screening has not been established, neonatologists should be alerted to the diagnosis of Pompe in the presence of hypertrophic cardiomyopathy. Diagnosis is achieved in a few days with the aid of dried blood spots. PMID:29390460

Trends in asthma mortality in the 0- to 4-year and 5- to 34-year age groups in Brazil.

PubMed

Graudenz, Gustavo Silveira; Carneiro, Dominique Piacenti; Vieira, Rodolfo de Paula

2017-01-01

To provide an update on trends in asthma mortality in Brazil for two age groups: 0-4 years and 5-34 years. Data on mortality from asthma, as defined in the International Classification of Diseases, were obtained for the 1980-2014 period from the Mortality Database maintained by the Information Technology Department of the Brazilian Unified Health Care System. To analyze time trends in standardized asthma mortality rates, we conducted an ecological time-series study, using regression models for the 0- to 4-year and 5- to 34-year age groups. There was a linear trend toward a decrease in asthma mortality in both age groups, whereas there was a third-order polynomial fit in the general population. Although asthma mortality showed a consistent, linear decrease in individuals ≤ 34 years of age, the rate of decline was greater in the 0- to 4-year age group. The 5- to 34-year group also showed a linear decline in mortality, and the rate of that decline increased after the year 2004, when treatment with inhaled corticosteroids became more widely available. The linear decrease in asthma mortality found in both age groups contrasts with the nonlinear trend observed in the general population of Brazil. The introduction of inhaled corticosteroid use through public policies to control asthma coincided with a significant decrease in asthma mortality rates in both subsets of individuals over 5 years of age. The causes of this decline in asthma-related mortality in younger age groups continue to constitute a matter of debate. Apresentar uma atualização das tendências da mortalidade da asma no Brasil em duas faixas etárias: 0-4 anos e 5-34 anos. Dados relativos ao período de 1980 a 2014 referentes à mortalidade da asma, conforme se definiu na Classificação Internacional de Doenças, foram extraídos Sistema de Informação sobre Mortalidade do Departamento de Tecnologia da Informação do Sistema Único de Saúde. Para analisar as tendências temporais das taxas

MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis.

PubMed

Baker, E H; Levin, S W; Zhang, Z; Mukherjee, A B

2017-02-01

Infantile neuronal ceroid lipofuscinosis is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase 1 deficiency, which impairs degradation of palmitoylated proteins (constituents of ceroid) by lysosomal hydrolases. Consequent lysosomal ceroid accumulation leads to neuronal injury, resulting in rapid neurodegeneration and childhood death. As part of a project studying the treatment benefits of a combination of cysteamine bitartrate and N -acetyl cysteine, we made serial measurements of patients' brain volumes with MR imaging. Ten patients with infantile neuronal ceroid lipofuscinosis participating in a treatment/follow-up study underwent brain MR imaging that included high-resolution T1-weighted images. After manual placement of a mask delineating the surface of the brain, a maximum-likelihood classifier was applied to determine total brain volume, further subdivided as cerebrum, cerebellum, brain stem, and thalamus. Patients' brain volumes were compared with those of a healthy population. Major subdivisions of the brain followed similar trajectories with different timing. The cerebrum demonstrated early, rapid volume loss and may never have been normal postnatally. The thalamus dropped out of the normal range around 6 months of age; the cerebellum, around 2 years of age; and the brain stem, around 3 years of age. Rapid cerebral volume loss was expected on the basis of previous qualitative reports. Because our study did not include a nontreatment arm and because progression of brain volumes in infantile neuronal ceroid lipofuscinosis has not been previously quantified, we could not determine whether our intervention had a beneficial effect on brain volumes. However, the level of quantitative detail in this study allows it to serve as a reference for evaluation of future therapeutic interventions. © 2017 by American Journal of Neuroradiology.

Environmental and dietary risk factors for infantile atopic eczema among a Slovak birth cohort.

PubMed

Dunlop, Anne L; Reichrtova, Eva; Palcovicova, Luba; Ciznar, Peter; Adamcakova-Dodd, Andrea; Smith, S J; McNabb, Scott J N

2006-03-01

Infantile atopic eczema (AE) is a risk marker for future asthma. This study assesses the contribution of modifiable exposures to infantile AE. If modifiable exposures contribute substantially to infantile AE, its prevention might be a sensible approach to asthma prevention. Pregnant women (n = 1978) were systematically recruited from maternity hospitals of the Slovak Republic; their birthed cohort of 1990 children were prospectively followed for 1 yr. Children's exposures to selected environmental and dietary factors were assessed via maternal questionnaires administered at delivery and 1 yr of age. A child was considered to have AE, based on physical examination (SCORAD index >2) or mother's report of a previous physician diagnosis. Multivariate logistic regression was used to calculate adjusted odds ratios and percent total regression scores (TRS) for each variable. At 1 yr of age 1326 (67%) of the children remained in the cohort and 207 (15.6%) developed AE. Various modifiable environmental and dietary exposures increased the likelihood of AE (ownership of cats; consumption of infant formula, eggs, and fish) while others decreased the likelihood of AE (ownership of livestock; exclusive breast feeding for > or =4 months). Overall, modifiable exposures contributed less to the TRS than did non-modifiable exposures (38% vs. 62%, respectively). The modifiable exposure category that contributed most to the TRS was infant feeding practices (27.5% TRS). Modifiable exposures -- especially those related to infant feeding practices -- significantly contribute to infantile AE, although modifiable factors contribute less overall than do non-modifiable exposures.

Casting for infantile scoliosis: the pitfall of increased peak inspiratory pressure.

PubMed

Dhawale, Arjun A; Shah, Suken A; Reichard, Samantha; Holmes, Laurens; Brislin, Robert; Rogers, Kenneth; Mackenzie, William G

2013-01-01

Serial cast correction is a popular treatment option for progressive infantile scoliosis. Body casting can lead to chest and abdominal expansion restriction and result in decreased chest wall compliance. There are no studies evaluating the effects of casting on ventilation in infantile scoliosis. This study examines changes in peak inspiratory pressure (PIP) during serial casting for infantile scoliosis. We retrospectively reviewed data obtained from 37 serial Cotrel elongation, derotation, and flexion cast corrections in patients with infantile scoliosis. Patient demographics, radiographic measurements, and anesthesia data were recorded. Anesthesia technique was standardized: children were intubated with rigid endotracheal tubes (ETTs); tidal volume was held constant at 8 to 10 cm(3)/kg using volume control ventilation; and PIP was recorded at baseline, after cast application before window cutout, and after window cutout before extubation. Any complications were documented. We assessed the PIP changes with a repeated measures analysis of variance (ANOVA). The mean age at first casting was 21.8 months (range, 12 to 42 mo) and mean follow-up since first casting was 22.4 months (range, 13 to 40 mo) with mean major Cobb angle of 53±15 degrees. The mean PIP was 15.5±4.9 cm H(2)O before casting, 31.9±7.9 cm H(2)O after cast application, and 20.4±5.6 cm H2O after making windows. There was a 106% increase after casting and 32% increase after window cutout from the baseline PIP levels. There was a significant difference in PIP on repeated measures ANOVA (P<0.0001). Intraoperatively, there was difficulty in maintaining ventilation during 2 procedures and 1 hypotensive episode. One patient developed hypoxemia after casting and another had delayed difficulty in breathing. Casting resulted in an increased PIP due to transient restrictive pulmonary process; after windows were cut out, the PIP reduced but not to baseline. In patients with underlying pulmonary disease, the

TFG-MET fusion in an infantile spindle cell sarcoma with neural features.

PubMed

Flucke, Uta; van Noesel, Max M; Wijnen, Marc; Zhang, Lei; Chen, Chun-Liang; Sung, Yun-Shao; Antonescu, Cristina R

2017-09-01

An increasing number of congenital and infantile sarcomas displaying a primitive, monomorphic spindle cell phenotype have been characterized to harbor recurrent gene fusions, including infantile fibrosarcoma and congenital spindle cell rhabdomyosarcoma. Here, we report an unusual spindle cell sarcoma presenting as a large and infiltrative pelvic soft tissue mass in a 4-month-old girl, which revealed a novel TFG-MET gene fusion by whole transcriptome RNA sequencing. The tumor resembled the morphology of an infantile fibrosarcoma with both fascicular and patternless growth, however, it expressed strong S100 protein immunoreactivity, while lacking SOX10 staining and retaining H3K27me3 expression. Although this immunoprofile suggested partial neural/neuroectodermal differentiation, overall features were unusual and did not fit into any known tumor types (cellular schwannoma, MPNST), raising the possibility of a novel pathologic entity. The TFG-MET gene fusion expands the genetic spectrum implicated in the pathogenesis of congenital spindle cell sarcomas, with yet another example of kinase oncogenic activation through chromosomal translocation. The discovery of this new fusion is significant since the resulting MET activation can potentially be inhibited by targeted therapy, as MET inhibitors are presently available in clinical trials. © 2017 Wiley Periodicals, Inc.

A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease.

PubMed

Wang, Zhaohui; Okamoto, Patricia; Keutzer, Joan

2014-02-01

Pompe disease is caused by a deficiency of acid α-glucosidase (GAA; EC, 3.2.1.20), and the infantile-onset form is rapidly fatal if left untreated. However, recombinant human GAA (rhGAA) enzyme replacement therapy (ERT) extends survival for infantile Pompe patients. Although cross-reactive immunologic material (CRIM)-negative patients, who lack detectable endogenous GAA, mount an immune response to rhGAA that renders the therapy ineffective, timely induction of immune tolerance in these patients may improve clinical outcomes. Previously, CRIM status has been determined by Western blot analysis in cultured skin fibroblasts, a process that can take a few weeks. We present a blood-based CRIM assay that can yield results within 48 to 72 h. Results from this assay have been confirmed by GAA Western blot analysis in fibroblasts or by GAA sequencing in a small number of Pompe disease patients. Rapid classification of CRIM status will assist in identifying the most effective treatment course and minimizing treatment delays in patients with infantile-onset Pompe disease. © 2013.

Vigabatrin therapy implicates neocortical high frequency oscillations in an animal model of infantile spasms.

PubMed

Frost, James D; Le, John T; Lee, Chong L; Ballester-Rosado, Carlos; Hrachovy, Richard A; Swann, John W

2015-10-01

Abnormal high frequency oscillations (HFOs) in EEG recordings are thought to be reflections of mechanisms responsible for focal seizure generation in the temporal lobe and neocortex. HFOs have also been recorded in patients and animal models of infantile spasms. If HFOs are important contributors to infantile spasms then anticonvulsant drugs that suppress these seizures should decrease the occurrence of HFOs. In experiments reported here, we used long-term video/EEG recordings with digital sampling rates capable of capturing HFOs. We tested the effectiveness of vigabatrin (VGB) in the TTX animal model of infantile spasms. VGB was found to be quite effective in suppressing spasms. In 3 of 5 animals, spasms ceased after a daily two week treatment. In the other 2 rats, spasm frequency dramatically decreased but gradually increased following treatment cessation. In all animals, hypsarrhythmia was abolished by the last treatment day. As VGB suppressed the frequency of spasms, there was a decrease in the intensity of the behavioral spasms and the duration of the ictal EEG event. Analysis showed that there was a burst of high frequency activity at ictal onset, followed by a later burst of HFOs. VGB was found to selectively suppress the late HFOs of ictal complexes. VGB also suppressed abnormal HFOs recorded during the interictal periods. Thus VGB was found to be effective in suppressing both the generation of spasms and hypsarrhythmia in the TTX model. Vigabatrin also appears to preferentially suppress the generation of abnormal HFOs, thus implicating neocortical HFOs in the infantile spasms disease state. Copyright © 2015 Elsevier Inc. All rights reserved.

Vigabatrin Therapy Implicates Neocortical High Frequency Oscillations in an Animal Model of Infantile Spasms

PubMed Central

Frost, James D.; Le, John T.; Lee, Chong L.; Ballester-Rosado, Carlos; Hrachovy, Richard A.; Swann, John W.

2015-01-01

Abnormal high frequency oscillations (HFOs) in EEG recordings are thought to be reflections of mechanisms responsible for focal seizure generation in the temporal lobe and neocortex. HFOs have also been recorded in patients and animal models of infantile spasms. If HFOs are important contributors to infantile spasms then anticonvulsant drugs that suppress these seizures should decrease the occurrence of HFOs. In experiments reported here, we used long-term video/EEG recordings with digital sampling rates capable of capturing HFOs. We tested the effectiveness of vigabatrin (VGB) in the TTX animal model of infantile spasms. VGB was found to be quite effective in suppressing spasms. In 3 of 5 animals, spasms ceased after a daily two week treatment. In the other 2 rats, spasm frequency dramatically decreased but gradually increased following treatment cessation. In all animals, hypsarrhythmia was abolished by the last treatment day. As VGB suppressed the frequency of spasms, there was a decrease in the intensity of the behavioral spasms and the duration of the ictal EEG event. Analysis showed that there was a burst of high frequency activity at ictal onset, followed by a later burst of HFOs. VGB was found to selectively suppress the late HFOs of ictal complexes. VGB also suppressed abnormal HFOs recorded during the interictal periods. Thus VGB was found to be effective in suppressing both the generation of spasms and hypsarrhythmia in the TTX model. Vigabatrin also appears to preferentially suppress the generation of abnormal HFOs, thus implicating neocortical HFOs in the infantile spasms disease state. PMID:26026423

Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: An Atypical Presentation.

PubMed

Saini, Arushi Gahlot; Sankhyan, Naveen; Singhi, Pratibha

2016-07-01

Classic late-infantile neuronal ceroid lipofuscinosis is characterized by progressive intellectual and motor deterioration, seizures, vision loss, and early death. Prominent chorea is an atypical feature and is rarely described in children. A four-year-old girl with seizures followed by a year-long progressive cognitive decline and a three month history of intermittent chorea leading to rapid motor deterioration. The onset of illness was marked by seizures occurring as generalized tonic-clonic seizures and myoclonic jerks. There was gradual regression of cognitive milestones with increasing forgetfulness and impaired quality and content of speech. Nine months later, she developed chorea. These movements were associated with clumsiness, incoordination, and progressive loss of motor milestones. She was unable to perform manual tasks or maintain antigravity posture resulting in unsteadiness and frequent falls. The movements were aggravated by action or excitement and were absent in sleep. Magnetic resonance imaging depicted diffuse cerebral and cerebellar atrophy. Sequencing analysis of TPP1 gene showed a novel, homozygous, splice site mutation c.89+1G>A which resulted in nil enzyme activity and a severe phenotype with onset of disease symptoms at an early age of three years. The presence of chorea in late-infantile neuronal ceroid lipofuscinoses is atypical but does not exclude the diagnosis of late-infantile neuronal ceroid lipofuscinoses, especially in children with psychomotor regression, seizures and diffuse brain atrophy. Copyright © 2016 Elsevier Inc. All rights reserved.

Infantile Spasms and Cytomegalovirus Infection: Antiviral and Antiepileptic Treatment

ERIC Educational Resources Information Center

Dunin-Wasowicz, Dorota; Kasprzyk-Obara, Jolanta; Jurkiewicz, Elzbieta; Kapusta, Monika; Milewska-Bobula, Bogumila

2007-01-01

From 1 January 1995 to 31 December 2004, 22 patients (13 males, nine females; age range 2-12mo) with infantile spasms and cytomegalovirus (CMV) infection were treated with intravenous ganciclovir (GCV) and antiepileptic drugs. GCV was given for 3 to 12 weeks with a 1-month interval (one, two, or three courses). Epileptic spasms occurred before…

The Organic Etiology of Infantile Autism: Myth or Fact?

ERIC Educational Resources Information Center

Sanua, Victor D.

The author reviews theories and research on the etiology of infantile autism, specifically regarding its organic basis. He cites controversies over its organic vs. environmental basis and over the family's impact on autism. Quotes from such theoriests as L. Kanner, B. Bettleheim, and B. Rimland are presented along with E. R. Ritvo and M. Coleman.…

Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

PubMed Central

Rockman-Greenberg, Cheryl; Ozono, Keiichi; Riese, Richard; Moseley, Scott; Melian, Agustin; Thompson, David D.; Bishop, Nicholas; Hofmann, Christine

2016-01-01

Context: Hypophosphatasia (HPP) is an inborn error of metabolism that, in its most severe perinatal and infantile forms, results in 50–100% mortality, typically from respiratory complications. Objectives: Our objective was to better understand the effect of treatment with asfotase alfa, a first-in-class enzyme replacement therapy, on mortality in neonates and infants with severe HPP. Design/Setting: Data from patients with the perinatal and infantile forms of HPP in two ongoing, multicenter, multinational, open-label, phase 2 interventional studies of asfotase alfa treatment were compared with data from similar patients from a retrospective natural history study. Patients: Thirty-seven treated patients (median treatment duration, 2.7 years) and 48 historical controls of similar chronological age and HPP characteristics. Interventions: Treated patients received asfotase alfa as sc injections either 1 mg/kg six times per week or 2 mg/kg thrice weekly. Main Outcome Measures: Survival, skeletal health quantified radiographically on treatment, and ventilatory status were the main outcome measures for this study. Results: Asfotase alfa was associated with improved survival in treated patients vs historical controls: 95% vs 42% at age 1 year and 84% vs 27% at age 5 years, respectively (P < .0001, Kaplan-Meier log-rank test). Whereas 5% (1/20) of the historical controls who required ventilatory assistance survived, 76% (16/21) of the ventilated and treated patients survived, among whom 75% (12/16) were weaned from ventilatory support. This better respiratory outcome accompanied radiographic improvements in skeletal mineralization and health. Conclusions: Asfotase alfa mineralizes the HPP skeleton, including the ribs, and improves respiratory function and survival in life-threatening perinatal and infantile HPP. PMID:26529632

Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness.

PubMed

Jones, Harrison N; Crisp, Kelly D; Moss, Tronda; Strollo, Katherine; Robey, Randy; Sank, Jeffrey; Canfield, Michelle; Case, Laura E; Mahler, Leslie; Kravitz, Richard M; Kishnani, Priya S

2014-01-01

Respiratory muscle weakness is a primary therapeutic challenge for patients with infantile Pompe disease. We previously described the clinical implementation of a respiratory muscle training (RMT) regimen in two adults with late-onset Pompe disease; both demonstrated marked increases in inspiratory and expiratory muscle strength in response to RMT. However, the use of RMT in pediatric survivors of infantile Pompe disease has not been previously reported. We report the effects of an intensive RMT program on maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP) using A-B-A (baseline-treatment-posttest) single subject experimental design in two pediatric survivors of infantile Pompe disease. Both subjects had persistent respiratory muscle weakness despite long-term treatment with alglucosidase alfa. Subject 1 demonstrated negligible to modest increases in MIP/MEP (6% increase in MIP, d=0.25; 19% increase in MEP, d=0.87), while Subject 2 demonstrated very large increases in MIP/MEP (45% increase in MIP, d=2.38; 81% increase in MEP, d=4.31). Following three-month RMT withdrawal, both subjects maintained these strength increases and demonstrated maximal MIP and MEP values at follow-up. Intensive RMT may be a beneficial treatment for respiratory muscle weakness in pediatric survivors of infantile Pompe disease.

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.

PubMed

Ebbink, Berendine J; Poelman, Esther; Aarsen, Femke K; Plug, Iris; Régal, Luc; Muentjes, Carsten; van der Beek, Nadine A M E; Lequin, Maarten H; van der Ploeg, Ans T; van den Hout, Johanna M P

2018-06-01

To examine the long-term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement therapy. Using neuropsychological tests and brain magnetic resonance imaging (MRI), we prospectively assessed a cohort of 11 classic infantile Pompe patients aged up to 17 years. From approximately age 2 years onwards, brain MRI showed involvement of the periventricular white matter and centrum semiovale. After 8 years of age, additional white-matter abnormalities occurred in the corpus callosum, internal and external capsule, and subcortical areas. From 11 years of age, white-matter abnormalities were also found in the brainstem. Although there seemed to be a characteristic pattern of involvement over time, there were considerable variations between patients, reflected by variations in neuropsychological development. Cognitive development ranged from stable and normal to declines that lead to intellectual disabilities. As treatment enables patients with classic infantile Pompe disease to reach adulthood, white-matter abnormalities are becoming increasingly evident, affecting the neuropsychological development. Therefore, we advise follow-up programs are expanded to capture CNS involvement in larger, international patient cohorts, to incorporate our findings in the counselling of parents before the start of treatment, and to include the brain as an additional target in the development of next-generation therapeutic strategies for classic infantile Pompe disease. In our long-term survivors treated intravenously with enzyme replacement therapy, we found slowly progressive symmetric white-matter abnormalities. Cognitive development varied from stable and normal to declines towards intellectual disabilities. © 2018 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.

Suppression of metabolic activity caused by infantile strabismus and strabismic amblyopia in striate visual cortex of macaque monkeys.

PubMed

Wong, Agnes M F; Burkhalter, Andreas; Tychsen, Lawrence

2005-02-01

Suppression is a major sensorial abnormality in humans and monkeys with infantile strabismus. We previously reported evidence of metabolic suppression in the visual cortex of strabismic macaques, using the mitochondrial enzyme cytochrome oxidase as an anatomic label. The purpose of this study was to further elucidate alterations in cortical metabolic activity, with or without amblyopia. Six macaque monkeys were used in the experiments (four strabismic and two control). Three of the strabismic monkeys had naturally occurring, infantile strabismus (two esotropic, one exotropic). The fourth strabismic monkey had infantile microesotropia induced by alternating monocular occlusion in the first months of life. Ocular motor behaviors and visual acuity were tested after infancy in each animal, and development of stereopsis was recorded during infancy in one strabismic and one control monkey. Ocular dominance columns (ODCs) of the striate visual cortex (area V1) were labeled using cytochrome oxidase (CO) histochemistry alone, or CO in conjunction with an anterograde tracer ([H 3 ]proline or WGA-HRP) injected into one eye. Each of the strabismic monkeys showed inequalities of metabolic activity in ODCs of opposite ocularity, visible as rows of lighter CO staining, corresponding to ODCs of lower metabolic activity, alternating with rows of darker CO staining, corresponding to ODCs of higher metabolic activity. In monkeys who had infantile strabismus and unilateral amblyopia, lower metabolic activity was found in (suppressed) ODCs driven by the nondominant eye in each hemisphere. In monkeys who had infantile esotropia and alternating fixation (no amblyopia), metabolic activity was lower in ODCs driven by the ipsilateral eye in each hemisphere. The suppression included a monocular core zone at the center of ODCs and binocular border zones at the boundaries of ODCs. This suppression was not evident in the monocular lamina of the LGN, indicating an intracortical rather than

Oscillopsia in "inverse latent" infantile nystagmus syndrome.

PubMed

Abel, Larry A; Malesic, Linda A

2007-11-01

A possibly unique individual with infantile nystagmus syndrome presented with incessant oscillopsia but good stereopsis when viewing binocularly; her nystagmus was greatly reduced with left eye occlusion. We have attempted to explain this and to identify an intervention that preserves binocular vision while maximizing perceptual stability. Eye movements were recorded and analyzed for duration of foveation (% time when the target was on or near the fovea and the eye was moving at < or = 4 degrees /sec) under different viewing conditions. Changes in foveation were compared with the patient's reports of her perceptual stability. In her right gaze null with her right eye fixating, foveation was 52.9%. This fell to 32.3% for the same eye in primary position and to 0.8% when viewing binocularly in primary position. When viewing binocularly oscillopsia was incessant; when viewing with her right eye vision was stable except in left gaze. Prism correction of her phoria greatly reduced her oscillopsia when viewing binocularly while preserving stereopsis; foveation went up to 33.7%. The patient's ability to maintain good foveation only when viewing with her right eye forces her to choose between stereopsis and stable vision. This may result from the rare combination of (1) requiring good foveation for oscillopsia suppression and (2) nystagmus deteriorating under the stress of maintaining binocularity. There may be many other infantile nystagmus syndrome patients who do not develop oscillopsia but may suffer sufficient asthenopia from a phoria to exacerbate their nystagmus.

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

PubMed Central

Schlingmann, Karl P.; Ruminska, Justyna; Kaufmann, Martin; Dursun, Ismail; Patti, Monica; Kranz, Birgitta; Pronicka, Ewa; Ciara, Elzbieta; Akcay, Teoman; Bulus, Derya; Cornelissen, Elisabeth A.M.; Gawlik, Aneta; Sikora, Przemysław; Patzer, Ludwig; Galiano, Matthias; Boyadzhiev, Veselin; Dumic, Miroslav; Vivante, Asaf; Kleta, Robert; Dekel, Benjamin; Levtchenko, Elena; Bindels, René J.; Rust, Stephan; Forster, Ian C.; Hernando, Nati; Jones, Glenville; Wagner, Carsten A.

2016-01-01

Idiopathic infantile hypercalcemia (IIH) is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis. Recently, mutations in the vitamin D catabolizing enzyme 25-hydroxyvitamin D3-24-hydroxylase (CYP24A1) were described that lead to increased sensitivity to vitamin D due to accumulation of the active metabolite 1,25-(OH)2D3. In a subgroup of patients who presented in early infancy with renal phosphate wasting and symptomatic hypercalcemia, mutations in CYP24A1 were excluded. Four patients from families with parental consanguinity were subjected to homozygosity mapping that identified a second IIH gene locus on chromosome 5q35 with a maximum logarithm of odds (LOD) score of 6.79. The sequence analysis of the most promising candidate gene, SLC34A1 encoding renal sodium-phosphate cotransporter 2A (NaPi-IIa), revealed autosomal-recessive mutations in the four index cases and in 12 patients with sporadic IIH. Functional studies of mutant NaPi-IIa in Xenopus oocytes and opossum kidney (OK) cells demonstrated disturbed trafficking to the plasma membrane and loss of phosphate transport activity. Analysis of calcium and phosphate metabolism in Slc34a1-knockout mice highlighted the effect of phosphate depletion and fibroblast growth factor-23 suppression on the development of the IIH phenotype. The human and mice data together demonstrate that primary renal phosphate wasting caused by defective NaPi-IIa function induces inappropriate production of 1,25-(OH)2D3 with subsequent symptomatic hypercalcemia. Clinical and laboratory findings persist despite cessation of vitamin D prophylaxis but rapidly respond to phosphate supplementation. Therefore, early differentiation between SLC34A1 (NaPi-IIa) and CYP24A1 (24-hydroxylase) defects appears critical for targeted therapy in patients with IIH. PMID:26047794

A self-controlled study of intralesional injection of diprospan combined with topical timolol cream for treatment of thick superficial infantile hemangiomas.

PubMed

Xu, Peng; Yu, Qian; Huang, Huizhen; Zhang, Wenjie; Li, Wei

2018-04-30

Topical application of timolol cream is effective and convenient for treating superficial infantile hemangiomas. Intralesional injection of corticosteroids, such as diprospan, is useful for the treatment of superficia infantile hemangiomas without systemic side effects. We conducted a self-controlled study to investigate whether a combination of intralesional injection of diprospan with topical timolol 0.5% cream would be more efficient than timolol cream alone in thick superficial infantile hemangiomas. Thirty-eight patients with 39 thick superficial infantile hemangiomas were recruited. Each lesion was randomly divided into two equal parts: one part was treated with topical timolol 0.5% cream (timolol cream group), while the other part was treated with injection of diprospan combined with topical timolol 0.5% cream (combined treatment group). Infants were followed every 4 weeks to determine whether injections should be continued, and timolol cream was applied four times daily for 5 months. During 5 months of treatment, three specialist physicians were invited to evaluate the therapeutic effects. The combined treatment group showed better lesion involution than did the timolol cream group regarding lesion thickness and color of lesions. The combination of intralesional injection of diprospan with topical timolol 0.5% cream is a suitable and safe strategy for thick superficial infantile hemangiomas. © 2018 Wiley Periodicals, Inc.

Surgical Treatments for Infantile Purulent Meningitis Complicated by Subdural Effusion.

PubMed

Wang, Xianshu; Zhang, Xiaoru; Cao, Hongbin; Jing, Shiyuan; Yang, Zhiguo; Cheng, Zhenghai; Liu, Ye; Li, Xin; Gao, Feifei; Ji, Yuanqi

2015-10-20

Infantile purulent meningitis (PM) is a commonly severe intracranial infectious disease in infants under age 1 year. In recent years, several diagnostic and treatment methods were reported, but in these cases the neurological complications and sequel were often observed, among which subdural effusion (SE) is the most common complication in PM. Timely diagnosis and early intervention are vital for better outcomes. In this study, the surgical treatments for infantile PM complicated by SE were investigated. Patients who had PM complicated by SE in the Children's Hospital of Hebei Province from June 2000 to June 2012 were retrospectively analyzed and 170 patients were enrolled in the study. Surgical treatment for each patient was adopted according to producing effusion time, leucocyte count, protein content, intracranial pressure, and bacteria culture, coupled with cranial ultrasound examination, CT, and MRI scans. Nearly, 15 patients were cured using serial taps, with a 50% cure rate. Seventeen out of 30 (56.6%) patients receiving subcutaneous reservoir drainage had better outcome. Nearly 80% of patients (55/69) who underwent minimally invasive trepanation and drainage were positive. Surgical procedure of minimally invasive trepanation and drainage combined with drug douche was effective in 63% of patients (19/30). In addition, 6 patients were cured with subdural-peritoneal shunt. Only 1 patient died, after the recurrence of meningitis, and the remaining 4 patients were cured by craniotomy. For infantile PM complicated with SE, treatment needs be chosen according to the specific situation. Surgical procedure of minimally invasive trepanation and drainage is a very effective treatment in curing PM complicated by SE. The treatment was highly effective with the use of drug douche. Subdural-peritoneal shunt and craniotomy were as effective as in refractory cases.

Surgical Treatments for Infantile Purulent Meningitis Complicated by Subdural Effusion

PubMed Central

Wang, Xianshu; Zhang, Xiaoru; Cao, Hongbin; Jing, Shiyuan; Yang, Zhiguo; Cheng, Zhenghai; Liu, Ye; Li, Xin; Gao, Feifei; Ji, Yuanqi

2015-01-01

Background Infantile purulent meningitis (PM) is a commonly severe intracranial infectious disease in infants under age 1 year. In recent years, several diagnostic and treatment methods were reported, but in these cases the neurological complications and sequel were often observed, among which subdural effusion (SE) is the most common complication in PM. Timely diagnosis and early intervention are vital for better outcomes. In this study, the surgical treatments for infantile PM complicated by SE were investigated. Material/Methods Patients who had PM complicated by SE in the Children’s Hospital of Hebei Province from June 2000 to June 2012 were retrospectively analyzed and 170 patients were enrolled in the study. Surgical treatment for each patient was adopted according to producing effusion time, leucocyte count, protein content, intracranial pressure, and bacteria culture, coupled with cranial ultrasound examination, CT, and MRI scans. Results Nearly, 15 patients were cured using serial taps, with a 50% cure rate. Seventeen out of 30 (56.6%) patients receiving subcutaneous reservoir drainage had better outcome. Nearly 80% of patients (55/69) who underwent minimally invasive trepanation and drainage were positive. Surgical procedure of minimally invasive trepanation and drainage combined with drug douche was effective in 63% of patients (19/30). In addition, 6 patients were cured with subdural-peritoneal shunt. Only 1 patient died, after the recurrence of meningitis, and the remaining 4 patients were cured by craniotomy. Conclusions For infantile PM complicated with SE, treatment needs be chosen according to the specific situation. Surgical procedure of minimally invasive trepanation and drainage is a very effective treatment in curing PM complicated by SE. The treatment was highly effective with the use of drug douche. Subdural-peritoneal shunt and craniotomy were as effective as in refractory cases. PMID:26482715

Unilateral Recession-Resection Surgery for Infantile Esotropia: Survival of Motor Outcomes and Postoperative Drifts.

PubMed

Chatzistefanou, Klio I; Brouzas, Dimitrios; Droutsas, Konstantinos D; Koutsandrea, Chryssanthi; Chimonidou, Eleutheria

2017-05-10

To outline the short- and long-term motor outcomes of unilateral medial rectus muscle recession and lateral rectus muscle resection for the correction of moderate angle infantile esotropia. A retrospective study of 109 consecutive patients with moderate angle infantile esotropia treated with graded unilateral recession-resection surgery. Criteria for successful motor outcome included alignment ±10Δ from orthophoria. Outcome evaluation was a comparison of successful alignment versus an overcorrection or undercorrection at eight weeks postoperatively as well as on the final follow-up examination. The mean preoperative deviation was 35.5 prism diopters (Δ) and mean follow-up time was 4.9 years. At the eight-week postoperative examination, 99 patients (89.9%) were successfully aligned, as opposed to 75 of 95 patients (78.9%) at the final postoperative visit (P=0.041). There was no statistically significant difference between the rate of early versus late undercorrections (7.3% versus 12.5%, P=0.267) or overcorrections (2.7% versus 8.3%, P=0.125). Ten patients had an esotropic drift over time and 10 patients had an exotropic drift. Recurrent esotropia was associated with high hyperopia and presumed infantile esotropia diagnostic entity. The Kaplan-Meier estimate of survivorship of a successful motor outcome was 75.5% at five years and 71% at 15 years postoperatively. The mean response to surgery was 2.9Δ per mm of muscle recessed and resected and was positively related to the preoperative angle of deviation (R=0.615). The unilateral recession-resection procedure for the correction of infantile esotropia is shown to be associated with a favorable survival of motor outcomes and a relatively balanced rate of undercorrections versus overcorrections tending to be maintained through the follow-up period.

Infantile masturbation in an African female: is this a justification for female genital cutting?

PubMed

Otaigbe, Barbara Edewele

2008-05-01

Masturbation is a taboo and not discussed openly in Africa. It is still worse when it occurs in an infant and will thus call for a visit to the traditional healers for 'spiritual intervention' and prompt female genital cutting/mutilation to reduce the child's libido and risk of sexual promiscuity as she gets older. Because of its peculiar presentation in children without manual genital stimulation, it is often misdiagnosed. A Medline search showed sparse information on infantile masturbation and none from Africa. A 15-month-old female was brought into a clinic in Port Harcourt, Nigeria, with a history of unusual rocking with adduction of the thighs noticed since 3 months of age. At 10 months of age, the child would lean forward and rock continuously on a hard surface such as a chair or an adult's lap. Rocking was accompanied with lip smacking, eye rolling, shaking, "watching of television in the air", spasm and feeling of fatigue and then resumption of the motions unless she was distracted. The child had been spanked occasionally by both parents with no noticeable change in behavior. Older female relatives had suggested female genital cutting or circumcision, but her father resisted vehemently. Infantile masturbation was viewed by the pediatrician and a 10-minute video recording was taken to confirm the diagnosis. The mother was reassured, counseled about behavioral and environmental modification. There was a marked improvement when the baby was seen 6 weeks later. Infantile masturbation rarely diagnosed in our region is probably due to a low index of suspicion and because mothers are afraid of stigma. We suggest that infantile masturbation should always be considered as a differential diagnosis of strange movement mimicking epilepsy in infants, and when a diagnosis is made parents should be counseled against female genital cutting. A video recording is encouraged fora correct diagnosis.

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

PubMed Central

Archer, H L; Evans, J; Edwards, S; Colley, J; Newbury‐Ecob, R; O'Callaghan, F; Huyton, M; O'Regan, M; Tolmie, J; Sampson, J; Clarke, A; Osborne, J

2006-01-01

Objective To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. Methods Two groups of patients were investigated for CDKL5 mutations. Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. Group 2 comprised 26 patients (11 female, 15 male) with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was identified, further clinical data were reviewed. Results Seven likely pathogenic mutations were found among female patients from group 1 with epileptic seizure onset in the first six months of life, accounting for seven of the 42 in this group (17%). No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group. All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: autistic features and tactile hypersensitivity were common but only one had suggestive Rett‐like features. All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasms, hypsarrhythmia. Slow frequencies were seen frequently with a frontal or fronto‐temporal predominance and high amplitudes. Conclusions The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported. CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder

[The maternal effect in infantile autism: elevated DNA damage degree in patients and their mothers].

PubMed

Porokhovnik, L N; Kostyuk, S V; Ershova, E S; Stukalov, S M; Veiko, N N; Korovina, N Yu; Gorbachevskaya, N L; Sorokin, A B; Lyapunova, N A

2016-05-01

Infantile autism is a common disorder of mental development, which is characterized by impairments in the communicative, cognitive and speech spheres and obsessional stereotyped behaviour. Although in most cases, pathogenic factors remain unclear, infantile autism has a significant hereditary component, however, its etiology is also under the influence of environmental factors, including the condition of the mother's body during pregnancy ("maternal effect"). Oxidative stress is assumed to play a key role in the pathogenesis of infantile autism. It is known that oxidative stress has a prominent genotoxic effect, which is realized through inducing single and double strand breaks of the nuclear DNA. We evaluated the degree of DNA damage in patients with infantile autism and their mothers using DNA comet assay. The comet tail moment and DNA per cent ratio in the tail were assessed for each individual. The two parameters appeared to be strongly correlated (r=0.90). Mean and median values of both parameters were considerably higher in the sample of autistic children, than in age-matching healthy controls. Interestingly, these parameters were also elevated in healthy mothers of autistic children, with no difference from the values in the group of autistic children. The control group of healthy women of reproductive age, who had no children with autism, differed by the DNA comet tail moment from the group of mothers of autistic children, but did not differ significantly from the control group of healthy children. The results suggest that there are genotoxic factors in mentally healthy mothers of autistic children, which can determine the pathological process in the foeti via environmental "maternal effect" during gestation.

Comparing the effects of Bentonite & Calendula on the improvement of infantile diaper dermatitis: A randomized controlled trial.

PubMed

Mahmoudi, Mansoreh; Adib-Hajbaghery, Mohsen; Mashaiekhi, Mahdi

2015-12-01

Infantile diaper dermatitis is a common, acute inflammatory reaction of the skin around diaper among infants. This study was undertaken to compare the effect of topical application of Bentonite and Calendula creams on the improvement of infantile diaper dermatitis. This double blind randomized controlled trial was undertaken on 100 patients of infantile diaper dermatitis. The 100 participants were randomly assigned into two groups of 50 each, and were prescribed the coded medicine. The mothers were trained to apply the cream and level of improvement was judged by observing the affected area on the first visit and then after three days of receiving treatment. The mean age of infants was 6.45±5.53 months in Calendula group and 7.35±6.28 months in Bentonite group. Overall, 88 per cent of lesions in the Bentonite group started improving in the first six hours while this rate was 54 per cent in Calendula group (P<0.001). The risk ratio for the improvement in the first six hours was 2.99 folds in the Bentonite group. Also, lesions in 86 per cent infants in the Bentonite group and 52 per cent in the Calendula group were completely improved in the first three days after treatment (P<0.001). Our results showed that in comparison with Calendula, Bentonite had faster healing effect and was more effective on the improvement of infantile diaper dermatitis (IRCT ID: IRCT 2012112811593N1).

Comparing the effects of Bentonite & Calendula on the improvement of infantile diaper dermatitis: A randomized controlled trial

PubMed Central

Mahmoudi, Mansoreh; Adib-Hajbaghery, Mohsen; Mashaiekhi, Mahdi

2015-01-01

Background & objectives: Infantile diaper dermatitis is a common, acute inflammatory reaction of the skin around diaper among infants. This study was undertaken to compare the effect of topical application of Bentonite and Calendula creams on the improvement of infantile diaper dermatitis. Methods: This double blind randomized controlled trial was undertaken on 100 patients of infantile diaper dermatitis. The 100 participants were randomly assigned into two groups of 50 each, and were prescribed the coded medicine. The mothers were trained to apply the cream and level of improvement was judged by observing the affected area on the first visit and then after three days of receiving treatment. Results: The mean age of infants was 6.45±5.53 months in Calendula group and 7.35±6.28 months in Bentonite group. Overall, 88 per cent of lesions in the Bentonite group started improving in the first six hours while this rate was 54 per cent in Calendula group (P<0.001). The risk ratio for the improvement in the first six hours was 2.99 folds in the Bentonite group. Also, lesions in 86 per cent infants in the Bentonite group and 52 per cent in the Calendula group were completely improved in the first three days after treatment (P<0.001). Interpretation & conclusions: Our results showed that in comparison with Calendula, Bentonite had faster healing effect and was more effective on the improvement of infantile diaper dermatitis (IRCT ID: IRCT 2012112811593N1). PMID:26831423

Recurrent EML4-NTRK3 fusions in infantile fibrosarcoma and congenital mesoblastic nephroma suggest a revised testing strategy.

PubMed

Church, Alanna J; Calicchio, Monica L; Nardi, Valentina; Skalova, Alena; Pinto, Andre; Dillon, Deborah A; Gomez-Fernandez, Carmen R; Manoj, Namitha; Haimes, Josh D; Stahl, Joshua A; Dela Cruz, Filemon S; Tannenbaum-Dvir, Sarah; Glade-Bender, Julia L; Kung, Andrew L; DuBois, Steven G; Kozakewich, Harry P; Janeway, Katherine A; Perez-Atayde, Antonio R; Harris, Marian H

2018-03-01

Infantile fibrosarcoma and congenital mesoblastic nephroma are tumors of infancy traditionally associated with the ETV6-NTRK3 gene fusion. However, a number of case reports have identified variant fusions in these tumors. In order to assess the frequency of variant NTRK3 fusions, and in particular whether the recently identified EML4-NTRK3 fusion is recurrent, 63 archival cases of infantile fibrosarcoma, congenital mesoblastic nephroma, mammary analog secretory carcinoma and secretory breast carcinoma (tumor types that are known to carry recurrent ETV6-NTRK3 fusions) were tested with NTRK3 break-apart FISH, EML4-NTRK3 dual fusion FISH, and targeted RNA sequencing. The EML4-NTRK3 fusion was identified in two cases of infantile fibrosarcoma (one of which was previously described), and in one case of congenital mesoblastic nephroma, demonstrating that the EML4-NTRK3 fusion is a recurrent genetic event in these related tumors. The growing spectrum of gene fusions associated with infantile fibrosarcoma and congenital mesoblastic nephroma along with the recent availability of targeted therapies directed toward inhibition of NTRK signaling argue for alternate testing strategies beyond ETV6 break-apart FISH. The use of either NTRK3 FISH or next-generation sequencing will expand the number of cases in which an oncogenic fusion is identified and facilitate optimal diagnosis and treatment for patients.

Particularité de la cystinose infantile chez l'enfant tunisien

PubMed Central

Jellouli, Manel; Turkia, Hadhami Ben; Abidi, Kamel; Hammi, Yosra; Gargah, Tahar

2015-01-01

La cystinose est une maladie rare qui résulte d'un défaut d'expression de la cystinosine transporteur de la cystine du lysosome. La forme infantile est la plus fréquente et la plus sévère. Elle conduit en dehors du traitement à l'insuffisance rénale chronique terminale au cours de la première décade de la vie. Nous rapportons l'expérience tunisienne de la cystinose infantile. Une étude rétrospective sur une période de 25 ans (1990-2014) était menée. Nous avons colligé 8 dossiers de cystinose infantile dans les services de pédiatrie des hôpitaux Charles Nicolle de Tunis et la Rabta de Tunis. Il s'agissait de 5garçons et de 3 filles. L’âge moyen au début des symptômes était de 6,37 mois (2-14 mois). L’âge moyen au moment du diagnostic était de 4 ans (7 mois-6 ans). Les dépôts cornéens de cystine étaient observés chez 7 patients. Sept patients présentaient une hypothyroïdie. La cystéamine était prescrite chez 6 patients. L’âge moyen au moment de la prescription de cystéamine était de 5,12 ans (8 mois- 13 ans). L’âge moyen lors de passage en insuffisance rénale chronique était de 3,4 ans. L’âge moyen lors du passage en insuffisance rénale chronique terminale était de 6,37 ans Actuellement, un patient garde une fonction rénale normale, trois patients sont en insuffisance rénale, deux patients sont décédés et un patient était transplanté. Il faut instaurer dans notre pays les moyens de diagnostic pour traiter tôt la maladie. PMID:26985266

A randomized, controlled trial of oral propranolol in infantile hemangioma.

PubMed

Léauté-Labrèze, Christine; Hoeger, Peter; Mazereeuw-Hautier, Juliette; Guibaud, Laurent; Baselga, Eulalia; Posiunas, Gintas; Phillips, Roderic J; Caceres, Hector; Lopez Gutierrez, Juan Carlos; Ballona, Rosalia; Friedlander, Sheila Fallon; Powell, Julie; Perek, Danuta; Metz, Brandie; Barbarot, Sebastien; Maruani, Annabel; Szalai, Zsuzsanna Zsofia; Krol, Alfons; Boccara, Olivia; Foelster-Holst, Regina; Febrer Bosch, Maria Isabel; Su, John; Buckova, Hana; Torrelo, Antonio; Cambazard, Frederic; Grantzow, Rainer; Wargon, Orli; Wyrzykowski, Dariusz; Roessler, Jochen; Bernabeu-Wittel, Jose; Valencia, Adriana M; Przewratil, Przemyslaw; Glick, Sharon; Pope, Elena; Birchall, Nicholas; Benjamin, Latanya; Mancini, Anthony J; Vabres, Pierre; Souteyrand, Pierre; Frieden, Ilona J; Berul, Charles I; Mehta, Cyrus R; Prey, Sorilla; Boralevi, Franck; Morgan, Caroline C; Heritier, Stephane; Delarue, Alain; Voisard, Jean-Jacques

2015-02-19

Oral propranolol has been used to treat complicated infantile hemangiomas, although data from randomized, controlled trials to inform its use are limited. We performed a multicenter, randomized, double-blind, adaptive, phase 2-3 trial assessing the efficacy and safety of a pediatric-specific oral propranolol solution in infants 1 to 5 months of age with proliferating infantile hemangioma requiring systemic therapy. Infants were randomly assigned to receive placebo or one of four propranolol regimens (1 or 3 mg of propranolol base per kilogram of body weight per day for 3 or 6 months). A preplanned interim analysis was conducted to identify the regimen to study for the final efficacy analysis. The primary end point was success (complete or nearly complete resolution of the target hemangioma) or failure of trial treatment at week 24, as assessed by independent, centralized, blinded evaluations of standardized photographs. Of 460 infants who underwent randomization, 456 received treatment. On the basis of an interim analysis of the first 188 patients who completed 24 weeks of trial treatment, the regimen of 3 mg of propranolol per kilogram per day for 6 months was selected for the final efficacy analysis. The frequency of successful treatment was higher with this regimen than with placebo (60% vs. 4%, P<0.001). A total of 88% of patients who received the selected propranolol regimen showed improvement by week 5, versus 5% of patients who received placebo. A total of 10% of patients in whom treatment with propranolol was successful required systemic retreatment during follow-up. Known adverse events associated with propranolol (hypoglycemia, hypotension, bradycardia, and bronchospasm) occurred infrequently, with no significant difference in frequency between the placebo group and the groups receiving propranolol. This trial showed that propranolol was effective at a dose of 3 mg per kilogram per day for 6 months in the treatment of infantile hemangioma. (Funded by

The Empty Fortress; Infantile Autism and the Birth of the Self.

ERIC Educational Resources Information Center

Bettelheim, Bruno

The nature, origin, and treatment of infantile autism are explored with a consideration of the child's world of encounter and case histories. The beginning of life, called the region of shadows, is mentioned; and the world of the newborn, body language, mutuality, autonomy, the autistic anlage, and the right side of time are examined for the…

Molecular Correlates of Age-Dependent Seizures in an Inherited Neonatal-Infantile Epilepsy

ERIC Educational Resources Information Center

Liao, Yunxiang; Deprez, Liesbet; Maljevic, Snezana; Pitsch, Julika; Claes, Lieve; Hristova, Dimitrina; Jordanova, Albena; Ala-Mello, Sirpa; Bellan-Koch, Astrid; Blazevic, Dragica; Schubert, Simone; Thomas, Evan A.; Petrou, Steven; Becker, Albert J.; De Jonghe, Peter; Lerche, Holger

2010-01-01

Many idiopathic epilepsy syndromes have a characteristic age dependence, the underlying molecular mechanisms of which are largely unknown. Here we propose a mechanism that can explain that epileptic spells in benign familial neonatal-infantile seizures occur almost exclusively during the first days to months of life. Benign familial…

On Human Symbiosis and the Vicissitudes of Individuation. Infantile Psychosis, Volume 1.

ERIC Educational Resources Information Center

Mahler, Margaret S.

The concepts of symbiosis and separation-individuation are explained, and the symbiosis theory of infantile psychosis is presented. Diagnostic considerations and clinical cases of child psychosis are reviewed; prototypes of mother-child interaction are described; and therapy is discussed. A summary of the symbiosis theory and a bibliography of…

AB073. Classic infantile-onset Pompe disease: phenotypes and outcomes of 5 Vietnamese patients receiving enzyme replacement therapy

PubMed Central

Nguyen, Khanh Ngoc; Do, Mai Thi Thanh; Can, Ngoc Thi Bich; Hwu, Wuh-Liang; Vu, Dung Chi

2017-01-01

Background Pompe disease (PD) or glycogen storage disease type II is a lysosomal storage disorder, caused by mutations of GAA gene which results in deficiency of acid alpha-glucosidase (GAA) enzyme that involves in metabolism of glycogen in the lysosomes. Its incidence is 1/14,000–1/100,000. PD is divided into three types: classic infantile onset, non-classic infantile onset, and late onset. Early enzyme replacement therapy (ERT) before developing respiratory distress may lead to good outcome. Since 2013, we have identified 16 cases with classic infantile-onset and 5 cases were treated with ERT. Herein, we describe phenotypes and outcomes of five infantile-onset PD patients who received ERT. Methods GAA enzyme assay was done at National Taiwan University Hospital. Results Ages of diagnosis were 12, 38 and 70 days, 5 and 9 months of age. Clinical presentations included macroglossia (5/5), hypertrophic cardiomyopathy (5/5), failure to thrive (5/5), facial weakness and hypotonia (3 patients diagnosed after 70 days of age), respiratory failure (1 patient diagnosed at 9 months of age). All patients had mildly elevated plasma CK (270–380 UI/L) and transaminase (60–260 UI/l). Ages at starting ERT were 28 and 58 days, 3, 6 and 10 months. The time intervals from diagnosis to starting ERT were between 14 days and 1 month. The durations of ERT were 4–22 months. The outcomes were good. All patients had improvement of cardiac functions shown on echocardiography, respiratory status, and motor development. The patient who first received ERT at 10 months of age was reportedly dead at home due to food obstruction at 18 months of age. Current ages of the survivors were 5–24 months. Conclusions Patients with classic infantile-onset PD will have good outcomes if ERT is started early. Newborn screening for this disease is necessary to yield an early diagnosis.

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

PubMed Central

Shamseldin, Hanan E.; Faqeih, Eissa; Alasmari, Ali; Zaki, Maha S.; Gleeson, Joseph G.; Alkuraya, Fowzan S.

2016-01-01

Brain channelopathies represent a growing class of brain disorders that usually result in paroxysmal disorders, although their role in other neurological phenotypes, including the recently described NALCN-related infantile encephalopathy, is increasingly recognized. In three Saudi Arabian families and one Egyptian family all affected by a remarkably similar phenotype (infantile encephalopathy and largely normal brain MRI) to that of NALCN-related infantile encephalopathy, we identified a locus on 2q34 in which whole-exome sequencing revealed three, including two apparently loss-of-function, recessive mutations in UNC80. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex. Our results expand the clinical relevance of the UNC79-UNC80-NALCN channel complex. PMID:26708753

Infantile colic, regurgitation, and constipation: an early traumatic insult in the development of functional gastrointestinal disorders in children?

PubMed

Indrio, Flavia; Di Mauro, Antonio; Riezzo, Giuseppe; Cavallo, Luciano; Francavilla, Ruggiero

2015-06-01

Functional gastrointestinal disorders (FGIDs) are defined as a variable combination of chronic or recurrent gastrointestinal symptoms not explained by structural or biochemical abnormalities. Infantile colic, gastroesophageal reflux, and constipation are the most common FGIDs that lead to referral to a pediatrician during the first 6 months of life and are often responsible for hospitalization, feeding changes, use of drugs, parental anxiety, and loss of parental working days with relevant social consequences. We performed a retrospective study on patients referred for recurrent abdominal pain from January 2002 trough December 2009 to our Pediatric Gastroenterology Outpatient Unit. The population studied was matched with healthy control without history of recurrent abdominal pain, enrolled among pediatricians practicing primary health care. History of infantile colic, regurgitation, and functional constipation was detected respectively in 26.41, 25.31, and 30.16% of children diagnosed with FGIDs compared to 11.34, 12.85, and 11.76% of healthy children. According to our data, children with a history of gastrointestinal infantile distress have a higher prevalence of FGIDs years later.

[Analysis of the Characteristics of Infantile Small World Neural Network Node Properties Correlated with the Influencing Factors].

PubMed

Qu, Haibo; Lu, Su; Zhang, Wenjing; Xiao, Yuan; Ning, Gang; Sun, Huaiqiang

2016-10-01

We applied resting-state functional magnetic resonance imaging(rfMRI)combined with graph theory to analyze 90 regions of the infantile small world neural network of the whole brain.We tried to get the following two points clear:1 whether the parameters of the node property of the infantile small world neural network are correlated with the level of infantile intelligence development;2 whether the parameters of the infantile small world neural network are correlated with the children’s baseline parameters,i.e.,the demographic parameters such as gender,age,parents’ education level,etc.Twelve cases of healthy infants were included in the investigation(9males and 3females with the average age of 33.42±8.42 months.)We then evaluated the level of infantile intelligence of all the cases and graded by Gesell Development Scale Test.We used a Siemens 3.0T Trio imaging system to perform resting-state(rs)EPI scans,and collected the BOLD functional Magnetic Resonance Imaging(fMRI)data.We performed the data processing with Statistical Parametric Mapping 5(SPM5)based on Matlab environment.Furthermore,we got the attributes of the whole brain small world and node attributes of 90 encephalic regions of templates of Anatomatic Automatic Labeling(ALL).At last,we carried out correlation study between the above-mentioned attitudes,intelligence scale parameters and demographic data.The results showed that many node attributes of small world neural network were closely correlated with intelligence scale parameters.Betweeness was mainly centered in thalamus,superior frontal gyrus,and occipital lobe(negative correlation).The r value of superior occipital gyrus associated with the individual and social intelligent scale was-0.729(P=0.007);degree was mainly centered in amygdaloid nucleus,superior frontal gyrus,and inferior parietal gyrus(positive correlation).The r value of inferior parietal gyrus associated with the gross motor intelligent scale was 0.725(P=0.008);efficiency was mainly

An Algorithmic Approach to the Management of Infantile Digital Fibromatosis: Review of Literature and a Case Report.

PubMed

Eypper, Elizabeth H; Lee, Johnson C; Tarasen, Ashley J; Weinberg, Maxene H; Adetayo, Oluwaseun A

2018-01-01

Objective: Infantile digital fibromatosis is a rare benign childhood tumor, infrequently cited in the literature. Hallmarks include nodular growths exclusive to fingers and toes and the presence of eosinophilic cytoplasmic inclusions on histology. This article aims to exemplify diagnoses of infantile digital fibromatosis and possible treatment options. Methods: A computerized English literature search was performed in the PubMed/MEDLINE database using MeSH headings "infantile," "juvenile," "digital," and "fibromatosis." Twenty electronic publications were selected and their clinical and histological data recorded and used to compile a treatment algorithm. Results: A 9-month-old male child was referred for a persistent, symptomatic nodule on the third left toe. A direct excision with Brunner-type incisions was performed under general anesthesia. The procedure was successful without complications. The patient has no recurrence at 2 years postsurgery and continues to be followed. Histological examination revealed a proliferation of bland, uniformly plump spindle cells with elongated nuclei and small central nucleoli without paranuclear inclusions consistent with fibromatosis. Conclusions: Asymptomatic nodules should be observed for spontaneous regression or treated with nonsurgical techniques such as chemotherapeutic or steroid injection. Surgical removal should be reserved for cases with structural or functional compromise.

Cultural Changes and Psychopathology in Children: With Special Reference to Infantile Autism. Draft.

ERIC Educational Resources Information Center

Sanua, Victor D.

The paper analyzes research regarding the effects of sociocultural factors and the incidence of mental illness, particularly infantile autism and childhood schizophrenia. Among those topics reviewed are general sociocultural changes and vital statistics, perceptual and cognitive potential of the neonate, the importance of family networks for…

A Hydrogel-Endothelial Cell implant Mimics Infantile Hemangioma: Modulation by Survivin and the Hippo pathway*

PubMed Central

Tsuneki, Masayuki; Hardee, Steven; Michaud, Michael; Morotti, Raffaella; Lavik, Erin; Madri, Joseph A.

2015-01-01

Microvascular endothelial cells cultured in three-dimensional hydrogel scaffolds form a network of microvessel structures when implanted subcutaneously in mice, inosculate with host vessels and over time remodel into large ectatic vascular structures resembling hemangiomas. When compared to infantile hemaniomas similarities were noted including a temporal progression from a morphological appearance of a proliferative phase to the appearance of an involuted phase mimicking the proliferative and involutional phases of infantile hemangioma. Consistent with the progression of a proliferative phase to an involuted phase, both the murine implants and human biopsy tissue exhibit reduced expression of Ajuba, YAP and Survivin labeling as they progressed over time. Significant numbers of CD45+, CD11b+, Mac3+ mononuclear cells were found at the 2 week time point in our implant model which correlated with the presence of CD45+, CD68+ mononuclear cells observed in biopsies of human proliferative phase hemangiomas. At the 4 week time point in our implant model only small numbers of CD45+ cells were detected, which again correlated with our findings of significantly diminished CD45+, CD68+ mononuclear cells in human involutional phase hemangiomas. The demonstration of mononuclear cell infiltration transiently in the proliferative phase of these lesions suggests that the vascular proliferation and/or regression may be driven in part by an immune response. Gross and microscopic morphological appearances of human proliferative and involutional hemangiomas and our implant model correlate well with each other as do the expression levels of Hippo pathway components (Ajuba and YAP) and Survivin and correlate with proliferation in these entities. Inhibitors of Survivin and Ajuba (which we have demonstrated to inhibit proliferation and increase apoptosis in murine hemangioma cell tissue culture) may have potential as other beneficial treatments for proliferating infantile hemangiomas

Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate.

PubMed Central

Stuart, G; Wren, C; Bain, H

1990-01-01

Two siblings with idiopathic infantile arterial calcification are reported. The fetal and postnatal echocardiographic features were a large pericardial effusion, thickened pulmonary and aortic valves, poor pulsation of the descending aorta, and calcification of the great vessels. In one patient calcification was first detected at 33 weeks' gestation. Despite treatment with disodium etidronate both children died. Images PMID:2118367

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

PubMed Central

Götz, Alexandra; Tyynismaa, Henna; Euro, Liliya; Ellonen, Pekka; Hyötyläinen, Tuulia; Ojala, Tiina; Hämäläinen, Riikka H.; Tommiska, Johanna; Raivio, Taneli; Oresic, Matej; Karikoski, Riitta; Tammela, Outi; Simola, Kalle O.J.; Paetau, Anders; Tyni, Tiina; Suomalainen, Anu

2011-01-01

Infantile cardiomyopathies are devastating fatal disorders of the neonatal period or the first year of life. Mitochondrial dysfunction is a common cause of this group of diseases, but the underlying gene defects have been characterized in only a minority of cases, because tissue specificity of the manifestation hampers functional cloning and the heterogeneity of causative factors hinders collection of informative family materials. We sequenced the exome of a patient who died at the age of 10 months of hypertrophic mitochondrial cardiomyopathy with combined cardiac respiratory chain complex I and IV deficiency. Rigorous data analysis allowed us to identify a homozygous missense mutation in AARS2, which we showed to encode the mitochondrial alanyl-tRNA synthetase (mtAlaRS). Two siblings from another family, both of whom died perinatally of hypertrophic cardiomyopathy, had the same mutation, compound heterozygous with another missense mutation. Protein structure modeling of mtAlaRS suggested that one of the mutations affected a unique tRNA recognition site in the editing domain, leading to incorrect tRNA aminoacylation, whereas the second mutation severely disturbed the catalytic function, preventing tRNA aminoacylation. We show here that mutations in AARS2 cause perinatal or infantile cardiomyopathy with near-total combined mitochondrial respiratory chain deficiency in the heart. Our results indicate that exome sequencing is a powerful tool for identifying mutations in single patients and allows recognition of the genetic background in single-gene disorders of variable clinical manifestation and tissue-specific disease. Furthermore, we show that mitochondrial disorders extend to prenatal life and are an important cause of early infantile cardiac failure. PMID:21549344

Diffusion, Perfusion, and Histopathologic Characteristics of Desmoplastic Infantile Ganglioglioma.

PubMed

Ho, Chang Y; Gener, Melissa; Bonnin, Jose; Kralik, Stephen F

2016-07-01

We present a case series of a rare tumor, the desmoplastic infantile ganglioglioma (DIG) with MRI diffusion and perfusion imaging quantification as well as histopathologic characterization. Four cases with pathologically-proven DIG had diffusion weighted imaging (DWI) and two of the four had dynamic susceptibility contrast imaging. All four tumors demonstrate DWI findings compatible with low-grade pediatric tumors. For the two cases with perfusion imaging, a higher relative cerebral blood volume was associated with higher proliferation index on histopathology for one of the cases. Our results are discussed in conjunction with a literature review.

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

PubMed

Shamseldin, Hanan E; Faqeih, Eissa; Alasmari, Ali; Zaki, Maha S; Gleeson, Joseph G; Alkuraya, Fowzan S

2016-01-07

Brain channelopathies represent a growing class of brain disorders that usually result in paroxysmal disorders, although their role in other neurological phenotypes, including the recently described NALCN-related infantile encephalopathy, is increasingly recognized. In three Saudi Arabian families and one Egyptian family all affected by a remarkably similar phenotype (infantile encephalopathy and largely normal brain MRI) to that of NALCN-related infantile encephalopathy, we identified a locus on 2q34 in which whole-exome sequencing revealed three, including two apparently loss-of-function, recessive mutations in UNC80. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex. Our results expand the clinical relevance of the UNC79-UNC80-NALCN channel complex. Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Effectiveness of treatments for infantile colic: systematic review.

PubMed

Lucassen, P L; Assendelft, W J; Gubbels, J W; van Eijk, J T; van Geldrop, W J; Neven, A K

1998-05-23

To evaluate the effectiveness of diets, drug treatment, and behavioural interventions on infantile colic in trials with crying or the presence of colic as the primary outcome measure. Controlled clinical trials identified by a highly sensitive search strategy in Medline (1966-96), Embase (1986-95), and the Cochrane Controlled Trials Register, in combination with reference checking for further relevant publications. Keywords were crying and colic. Two independent assessors selected controlled trials with interventions lasting at least 3 days that included infants younger than 6 months who cried excessively. Methodological quality was assessed by two assessors independently with a quality assessment scale (range 0-5). Effect sizes were calculated as percentage success. Effect sizes of trials using identical interventions were pooled using a random effects model. 27 controlled trials were identified. Elimination of cows' milk protein was effective when substituted by hypoallergenic formula milks (effect size 0.22 (95% confidence interval 0.09 to 0.34)). The effectiveness of substitution by soy formula milks was unclear when only trials of good methodological quality were considered. The benefit of eliminating cows' milk protein was not restricted to highly selected populations. Dicyclomine was effective (effect size 0.46 (0.33 to 0.60)), but serious side effects have been reported. The advice to reduce stimulation was beneficial (effect size 0.48 (0.23 to 0.74)), whereas the advice to increase carrying and holding seemed not to reduce crying. No benefit was shown for simethicone. Uncertainty remained about the effectiveness of low lactose formula milks. Infantile colic should preferably be treated by advising carers to reduce stimulation and with a one week trial of a hypoallergenic formula milk.

Reversible infantile mitochondrial diseases.

PubMed

Boczonadi, Veronika; Bansagi, Boglarka; Horvath, Rita

2015-05-01

Mitochondrial diseases are usually severe and progressive conditions; however, there are rare forms that show remarkable spontaneous recoveries. Two homoplasmic mitochondrial tRNA mutations (m.14674T>C/G in mt-tRNA(Glu)) have been reported to cause severe infantile mitochondrial myopathy in the first months of life. If these patients survive the first year of life by extensive life-sustaining measures they usually recover and develop normally. Another mitochondrial disease due to deficiency of the 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) causes severe liver failure in infancy, but similar to the reversible mitochondrial myopathy, within the first year of life these infants may also recover completely. Partial recovery has been noted in some other rare forms of mitochondrial disease due to deficiency of mitochondrial tRNA synthetases and mitochondrial tRNA modifying enzymes. Here we summarize the clinical presentation of these unique reversible mitochondrial diseases and discuss potential molecular mechanisms behind the reversibility. Understanding these mechanisms may provide the key to treatments of potential broader relevance in mitochondrial disease, where for the majority of the patients no effective treatment is currently available.

Infantile Autism. A Clinical and Phenomenological-Anthropological Investigation Taking Language as the Guide.

ERIC Educational Resources Information Center

Bosch, Gerhard

A clinical and phenomenological-anthropological investigation taking language as the guide, the study of infantile autism concentrates upon an analysis of the idiosyncratic language of autistic children and of what is revealed by the way they use it. Following the presentation of very detailed case histories of five of the autistic children…

Abnormal Head Position in Infantile Nystagmus Syndrome

PubMed Central

Noval, Susana; González-Manrique, Mar; Rodríguez-Del Valle, José María; Rodríguez-Sánchez, José María

2011-01-01

Infantile nystagmus is an involuntary, bilateral, conjugate, and rhythmic oscillation of the eyes which is present at birth or develops within the first 6 months of life. It may be pendular or jerk-like and, its intensity usually increases in lateral gaze, decreasing with convergence. Up to 64% of all patients with nystagmus also present strabismus, and even more patients have an abnormal head position. The abnormal head positions are more often horizontal, but they may also be vertical or take the form of a tilt, even though the nystagmus itself is horizontal. The aim of this article is to review available information about the origin and treatment of the abnormal head position associated to nystagmus, and to describe our treatment strategies. PMID:24533187

Infantile eczema at one month of age is associated with cord blood eosinophilia and subsequent development of atopic dermatitis and wheezing illness until two years of age.

PubMed

Matsumoto, Kenji; Shimanouchi, Yasuhiro; Kawakubo, Keiichi; Oishi, Naobumi; Wakiguchi, Hiroshi; Futamura, Kyoko; Saito, Hirohisa

2005-01-01

Physiological and pathological skin eruptions are commonly encountered in neonates in our clinical practice. However, the types of skin eruptions that are associated with the subsequent development of atopic dermatitis and the mechanisms of these associations remain uncertain. A total of 105 newborn babies with normal delivery were enrolled in this prospective cohort study. The cord blood eosinophil count was measured and the neonates were examined at 1 month of age and followed until 8 years of age. At 1 month of age, infantile eczema, seborrheic dermatitis, intertrigo and diaper dermatitis were diagnosed in a total of 29, 7, 14 and 24 neonates, respectively. No association was found among the prevalences of these eruptions. Neonates with infantile eczema had a significantly higher number and ratio of eosinophils in the cord blood (eosinophil count: 670.8 +/- 67.8 vs. 349.0 +/- 30.3/microl, p < 0.0001; eosinophil ratio: 5.12 +/- 0.53 vs. 2.61 +/- 0.22%, p < 0.0001, for the presence and the absence of infantile eczema, respectively). In contrast, no such tendency was found for any other skin eruptions. In neonates with infantile eczema at 1 month of age, the diagnosis of atopic dermatitis had been made significantly earlier and the prevalence of wheezing illness was significantly higher than in those without infantile eczema until 2 years of age. Infantile eczema, but not other skin eruptions, precedes the development of atopic dermatitis and wheezing illness during early infancy, presumably because of the activation of eosinophils before birth. Copyright 2005 S. Karger AG, Basel.

45 CFR 670.29 - Designation of Antarctic Specially Protected Areas, Specially Managed Areas and Historic Sites...

Code of Federal Regulations, 2011 CFR

2011-10-01

... for special management and are hereby designated as Antarctic Specially Managed Areas (ASMA). Detailed..., Arlington, Virginia 22230. ASMA 1Admiralty Bay, King George Island, South Shetland Islands ASMA 2McMurdo Dry Valleys, Southern Victoria Land ASMA 3Cape Denison, Commonwealth Bay, George V Land ASMA 4Deception Island...

45 CFR 670.29 - Designation of Antarctic Specially Protected Areas, Specially Managed Areas and Historic Sites...

Code of Federal Regulations, 2010 CFR

2010-10-01

... for special management and are hereby designated as Antarctic Specially Managed Areas (ASMA). Detailed..., Arlington, Virginia 22230. ASMA 1Admiralty Bay, King George Island, South Shetland Islands ASMA 2McMurdo Dry Valleys, Southern Victoria Land ASMA 3Cape Denison, Commonwealth Bay, George V Land ASMA 4Deception Island...

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease

PubMed Central

2014-01-01

Background Infantile Pompe disease is a rare metabolic disease. Patients generally do not survive the first year of life. Enzyme replacement therapy (ERT) has proven to have substantial effects on survival in infantile Pompe disease. However, the costs of therapy are very high. In this paper, we assess the cost-effectiveness of enzyme replacement therapy in infantile Pompe disease. Methods A patient simulation model was used to compare costs and effects of ERT with costs of effects of supportive therapy (ST). The model was filled with data on survival, quality of life and costs. For both arms of the model, data on survival were obtained from international literature. In addition, survival as observed among 20 classic-infantile Dutch patients, who all received ERT, was used. Quality of life was measured using the EQ-5D and assumed to be the same in both treatment groups. Costs included the costs of ERT (which depend on a child’s weight), infusions, costs of other health care utilization, and informal care. A lifetime time horizon was used, with 6-month time cycles. Results Life expectancy was significantly longer in the ERT group than in the ST group. On average, ST receiving patients were modelled not to survive the first half year of life; whereas the life expectancy in the ERT patients was modelled to be almost 14 years. Lifetime incremental QALYs were 6.8. Incremental costs were estimated to be € 7.0 million, which primarily consisted of treatment costs (95%). The incremental costs per QALY were estimated to be € 1.0 million (range sensitivity analyses: € 0.3 million - € 1.3 million). The incremental cost per life year gained was estimated to be € 0.5 million. Conclusions The incremental costs per QALY ratio is far above the conventional threshold values. Results from univariate and probabilistic sensitivity analyses showed the robustness of the results. PMID:24884717

CD34-positive infantile myofibromatosis: Case report and review of hemangiopericytoma-like pattern tumors.

PubMed

Kiyohara, Takahiro; Maruta, Naoki; Iino, Shiro; Ido, Hideki; Tokuriki, Atsushi; Hasegawa, Minoru

2016-09-01

We describe a case of CD34-positive infantile myofibromatosis with hemangiopericytoma-like pattern. A 2-day-old Japanese boy presented with multiple hemispherical nodules on the extremities and back. There was a biphasic histological growth in the dermis, accompanied by a hemangiopericytoma-like pattern with antler-like branching vessels. Tumor cells were oval to spindle-shaped myoid cells with bland appearance. Immunohistochemically, vimentin, calponin and CD34 were positive, while α-smooth muscle actin, h-caldesmon, HHF35 and desmin were negative. Although CD34 was positive, the present case could be diagnosed as infantile myofibromatosis. Myopericytoma, myofibroma/myofibromatosis, glomus tumor, glomangiopericytoma and angioleiomyoma share a continuous spectrum of benign hemangiopericytoma-like pattern tumors. Myofibroma/myofibromatosis is nearly included in myopericytoma among pericytic (perivascular) tumors, and could be positive for CD34. Several immunohistochemical panels of smooth muscle markers are needed for the diagnosis of pericytic (perivascular) tumors. © 2016 Japanese Dermatological Association.

Phenotypical Characteristics of Idiopathic Infantile Nystagmus with and without Mutations in "FRMD7"

ERIC Educational Resources Information Center

Thomas, Shery; Proudlock, Frank A.; Sarvananthan, Nagini; Roberts, Eryl O.; Awan, Musarat; McLean, Rebecca; Surendran, Mylvaganam; Kumar, A. S. Anil; Farooq, Shegufta J.; Degg, Chris; Gale, Richard P.; Reinecke, Robert D.; Woodruff, Geoffrey; Langmann, Andrea; Lindner, Susanne; Jain, Sunila; Tarpey, Patrick; Raymond, F. Lucy; Gottlob, Irene

2008-01-01

Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene "FRMD7" (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye…

Age-Specific Dynamics of Corpus Callosum Development in Children and its Peculiarities in Infantile Cerebral Palsy.

PubMed

Krasnoshchekova, E I; Zykin, P A; Tkachenko, L A; Aleksandrov, T A; Sereda, V M; Yalfimov, A N

2016-10-01

The age dynamics of corpus callosum development was studied on magnetic resonance images of the brain in children aged 2-11 years without neurological abnormalities and with infantile cerebral palsy. The areas of the total corpus callosum and its segments are compared in the midsagittal images. Analysis is carried out with the use of an original formula: proportion of areas of the anterior (genu, CC2; and anterior part, CC3) and posterior (isthmus, CC6 and splenium, CC7) segments: kCC=(CC2+CC3)×CC6/CC7. The results characterize age-specific dynamics of the corpus callosum development and can be used for differentiation, with high confidence, of the brain of children without neurological abnormalities from the brain patients with infantile cerebral palsy.

Pathophysiology of infantile pulmonary arterial hypertension induced by monocrotaline.

PubMed

Dias-Neto, Marina; Luísa-Neves, Ana; Pinho, Sónia; Gonçalves, Nádia; Mendes, Maria; Eloy, Catarina; Lopes, José M; Gonçalves, Daniel; Ferreira-Pinto, Manuel; Leite-Moreira, Adelino F; Henriques-Coelho, Tiago

2015-06-01

Pediatric pulmonary arterial hypertension (PAH) presents certain specific features. In this specific age group, experimental models to study the pathophysiology of PAH are lacking. To characterize hemodynamic, morphometric, and histological progression as well as the expression of neurohumoral factors and regulators of cardiac transcription in an infantile model of PAH induced by monocrotaline (MCT), eight-day-old Wistar rats were randomly injected with MCT (30 mg/kg, sc, n = 95) or equal volume of saline solution (n = 92). Animals were instrumented for biventricular hemodynamic recording 7, 14, and 21 days after MCT, whereas samples were collected at 1, 3, 7, 14, and 21 days after MCT. Different time point postinjections were defined for further analysis. Hearts and lungs were collected for morphometric characterization, assessment of right- and left-ventricle (RV and LV) cardiomyocyte diameter and collagen type-I and type-III ratio, RV collagen volume fraction, and pulmonary vessels wall thickness. mRNA quantification was undertaken for brain natriuretic peptide (BNP), endothelin-1 (ET-1), and for cardiac transcription regulators (HOP and Islet1). Animals treated with MCT at the 8th day of life presented RV hypertrophy since day 14 after MCT injection. There were no differences on the RV collagen volume fraction or collagen type-I and type-III ratio. Pulmonary vascular remodelling and PAH were present on day 21, which were accompanied by an increased expression of BNP, ET-1, HOP, and Islet1. The infantile model of MCT-induced PAH can be useful for the study of its pathophysiology and to test new therapeutic targets in pediatric age group.

Diffusion, Perfusion, and Histopathologic Characteristics of Desmoplastic Infantile Ganglioglioma

PubMed Central

Ho, Chang Y; Gener, Melissa; Bonnin, Jose; Kralik, Stephen F

2016-01-01

We present a case series of a rare tumor, the desmoplastic infantile ganglioglioma (DIG) with MRI diffusion and perfusion imaging quantification as well as histopathologic characterization. Four cases with pathologically-proven DIG had diffusion weighted imaging (DWI) and two of the four had dynamic susceptibility contrast imaging. All four tumors demonstrate DWI findings compatible with low-grade pediatric tumors. For the two cases with perfusion imaging, a higher relative cerebral blood volume was associated with higher proliferation index on histopathology for one of the cases. Our results are discussed in conjunction with a literature review. PMID:27761184

Congenital infantile myofibroma causing intrauterine death in a twin

PubMed Central

Aye, Christina Yi Ling; Gould, Steve; Akinsola, S Adeyemi

2011-01-01

While infantile myofibromatosis is the most common mesenchymal tumour of infancy, only around 300 cases have been reported. The authors report a 33-year-old para 1 with an uncomplicated, dichorionic diamniotic twin pregnancy who was diagnosed with an intrauterine death of one twin at 36+5 weeks gestation. At caesarean section, a macerated male stillborn weighing 2.72 kg was delivered. Postmortem examination revealed a pedunculated lesion attached to the left shoulder and underlying muscle consistent with a congenital myofibroma. The cause of death was postulated to be haemorrhage from the tumour surface causing fetal anaemia. PMID:22674951

Safety Profile during Initiation of Propranolol for Treatment of Infantile Hemangiomas in an Ambulatory Day-Care Hospitalization Setting.

PubMed

Fogel, Itay; Ollech, Ayelet; Zvulunov, Alex; Valdman-Greenshpon, Yulia; Atar-Sagie, Vered; Friedland, Rivka; Lapidoth, Moshe; Ben-Amitai, Dan

2018-03-24

Propranolol is the mainstay of treatment for infantile hemangioma. Despite its good safety profile, it is not risk-free. Guidelines for propranolol initiation and monitoring have been suggested, but protocols vary among practitioners. This study sought to assess the prevalence of adverse events and clinically significant fluctuations in hemodynamic parameters in children with infantile hemangioma during initiation of treatment with propranolol in a day-hospitalization setting. Children with infantile hemangioma treated with propranolol in a day-hospitalization department of a tertiary pediatric medical center in 2008-2014 were identified retrospectively. The pretreatment evaluation included clinical examination by a pediatric dermatologist and electrocardiography, echocardiography, and clinical examination by a pediatric cardiologist. The propranolol dosage was escalated from 0.5mg/kg/day to 2mg/kg/day, divided into 3 doses/day, over 3 days. Heart rate, blood pressure, and blood glucose level were measured before treatment onset and 60 min after the first two doses each day. The third dose was given at home. The cohort included 220 children aged 1 month to 5 years. No severe treatment-related adverse events were documented; 27 patients had minor side effects. There was a significant decrease in heart rate each day after the first two doses (p<0.001), and in systolic blood pressure, on day 2 (1mg/kg/day) after the first dose (p=0.01). Blood glucose level remained stable. The hemodynamic changes were clinically asymptomatic and did not require intervention. Propranolol treatment (2mg/kg/day in three doses) for infantile hemangioma is well tolerated and safe and may be administered and monitored in an ambulatory setting. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Autoimmune Diseases in Parents of Children with Infantile Autism: A Case--Control Study

ERIC Educational Resources Information Center

Mouridsen, Svend Erik; Rich, Bente; Isager, Torben; Nedergaard, Niels Jorgen

2007-01-01

This register study compared the rates and types of autoimmune disease in the parents of 111 patients (82 males, 29 females; mean age at diagnosis 5y 5mo [SD 2y 6mo]) with infantile autism (IA) with a matched control group of parents of 330 children from the general population. All parents were screened through the nationwide Danish National…

Doing the math: A simple approach to topical timolol dosing for infantile hemangiomas.

PubMed

Dalla Costa, Renata; Prindaville, Brea; Wiss, Karen

2018-03-01

Topical timolol maleate has recently gained popularity as a treatment for superficial infantile hemangiomas, but calculating a safe dose of timolol can be time consuming, which may limit the medication's use in fast-paced clinical environments. This report offers a simplified calculation of the maximum daily safe dosage as 1 drop of medication per kilogram of body weight. © 2018 Wiley Periodicals, Inc.

Infantile parkinsonism-dystonia: a dopamine "transportopathy".

PubMed

Blackstone, Craig

2009-06-01

The dopamine transporter (DAT) retrieves the neurotransmitter dopamine from the synaptic cleft at dopaminergic synapses. Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar disorders, and DAT is a prominent site of action for drugs such as amphetamines and cocaine. In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by loss-of-function mutations in DAT that impair dopamine reuptake (see the related article beginning on page 1595). Though this might be predicted to result in dopamine excess in the synaptic cleft, it likely also causes depletion of presynaptic dopamine stores and possibly downregulation of postsynaptic dopamine receptor function, resulting in impairments in dopaminergic neurotransmission consistent with the clinical presentation. This is the first report of a genetic alteration in DAT function underlying a parkinsonian disorder.

Interleukin 1 Receptor Antagonist Deficiency Presenting as Infantile Pustulosis Mimicking Infantile Pustular Psoriasis

PubMed Central

Minkis, Kira; Aksentijevich, Ivona; Goldbach-Mansky, Raphaela; Magro, Cynthia; Scott, Rachelle; Davis, Jessica G.; Sardana, Niti; Herzog, Ronit

2012-01-01

Background Deficiency of interleukin 1 receptor antagonist (DIRA) is a recently described autoinflammatory syndrome of skin and bone caused by recessive mutations in the gene encoding the interleukin 1 receptor antagonist. Few studies have been published about this debilitating condition. Early identification is critical for targeted lifesaving intervention. Observations A male infant, born to nonconsanguineous Puerto Rican parents, was referred for management of a pustular eruption diagnosed as pustular psoriasis. At 2 months of age, the infant developed a pustular eruption. After extensive evaluation, he was confirmed to be homozygous for a 175-kb genomic deletion on chromosome 2 that includes the IL1RN gene, commonly found in Puerto Ricans. Therapy with anakinra was initiated, with rapid clearance of skin lesions and resolution of systemic inflammation. Conclusions Recent identification of DIRA as a disease entity, compounded by the limited number of reported cases, makes early identification difficult. It is critical to consider this entity in the differential diagnosis of infantile pustulosis. Targeted therapy with the recombinant human interleukin 1 receptor antagonist anakinra can be lifesaving if initiated early. A high carrier frequency of the 175-kb DIRA-associated genomic deletion in the Puerto Rican population strongly supports testing infants presenting with unexplained pustulosis in patients from this geographic region. PMID:22431714

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

PubMed

Ramaekers, V Th; Segers, K; Sequeira, J M; Koenig, M; Van Maldergem, L; Bours, V; Kornak, U; Quadros, E V

2018-05-01

Cerebral folate deficiency (CFD) syndromes are defined as neuro-psychiatric conditions with low CSF folate and attributed to different causes such as autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus, FOLR1 gene mutations or mitochondrial disorders. High-dose folinic acid treatment restores many neurologic deficits. Among 36 patients from 33 families the infantile-onset CFD syndrome was diagnosed based on typical clinical features and low CSF folate. All parents were healthy. Three families had 2 affected siblings, while parents from 4 families were first cousins. We analysed serum FR autoantibodies and the FOLR1 and FOLR2 genes. Among three consanguineous families homozygosity mapping attempted to identify a monogenetic cause. Whole exome sequencing (WES) was performed in the fourth consanguineous family, where two siblings also suffered from polyneuropathy as an atypical finding. Boys (72%) outnumbered girls (28%). Most patients (89%) had serum FR autoantibodies fluctuating over 5-6 weeks. Two children had a genetic FOLR1 variant without pathological significance. Homozygosity mapping failed to detect a single autosomal recessive gene. WES revealed an autosomal recessive polynucleotide kinase 3´phosphatase (PNKP) gene abnormality in the siblings with polyneuropathy. Infantile-onset CFD was characterized by serum FR autoantibodies as its predominant pathology whereas pathogenic FOLR1 gene mutations were absent. Homozygosity mapping excluded autosomal recessive inheritance of any single responsible gene. WES in one consanguineous family identified a PNKP gene abnormality that explained the polyneuropathy and also its contribution to the infantile CFD syndrome because the PNKP gene plays a dual role in both neurodevelopment and immune-regulatory function. Further research for candidate genes predisposing to FRα-autoimmunity is suggested to include X-chromosomal and non-coding DNA regions

Orbital infantile myofibroma: a case report and clinicopathologic review of 24 cases from the literature.

PubMed

Mynatt, Corey J; Feldman, Kenneth A; Thompson, Lester D R

2011-09-01

Isolated orbital infantile myofibroma are rare tumors in the head and neck. The mass-like clinical presentation and variable histologic features result in frequent misdiagnosis and potentially inappropriate clinical management. There are only a few reported cases in the English literature. Twenty-four patients with orbital infantile myofibroma or myofibromatosis were compiled from the English literature (Medline 1960-2011) and integrated with this case report. The patients included 14 males and 10 females, aged newborn to 10 years (mean, 34.8 months), who presented with a painless mass in the infra- or supraorbital regions, usually increasing in size andassociated with exophthalmos (n = 5). Females were on average older than their male counterparts (38.9 vs. 31.9 months, respectively; P = 0.71). The tumors were twice as frequent on the left (n = 16) than right (n = 8). Patients experienced symptoms for an average of 2.7 months before clinical presentation. The tumors involved the bone (n = 17) or the soft tissues (n = 7) of the orbit, with extension into the nasal or oral cavity (n = 3). The mean size was 3.0 cm, with a statistically significant difference between males and females (mean: 3.9 vs. 1.82; P = 0.0047), but without any differences based on age at presentation (P = 0.25), duration of symptoms (P = 0.66), or bone or soft tissue involvement (P = 0.51). Grossly, all tumors were well-circumscribed, firm to rubbery, homogenous, and white-grey. Histologically, the tumors were biphasic, showing whorled and nodular areas of fusiform cells with extracellular collagen, mixed with a population of small, primitive-appearing, darkly staining cells. Necrosis was not present, but mitoses could be seen. Tumors with immunohistochemistry performed showed strong and diffuse smooth muscle actin and vimentin immunoreactivity, but were negative with muscle specific actin, desmin, MYOD1, myogenin, S100 protein, GFAP, keratin, CD31, 34, Factor VIIIR

Beard infantile hemangioma and subglottic involvement: are median pattern and telangiectatic aspect the clue?

PubMed

Piram, M; Hadj-Rabia, S; Boccara, O; Couloigner, V; Hamel-Teillac, D; Bodemer, C

2016-12-01

Identification of patient at risk of subglottic infantile hemangioma (IH) is challenging because subglottic IH can grow fast and cause airway obstruction with a fatal course. To refine the cutaneous IH pattern at risk of subglottic IH. Prospective and retrospective review of patients with cutaneous IH involving the beard area. IHs were classified in the bilateral pattern group (BH) or in the unilateral pattern group (UH). Infantile hemangioma topography, subtype (telangiectatic or tuberous), ear, nose and throat (ENT) manifestations and subglottic involvement were recorded. Thirty-one patients (21 BH and 10 UH) were included during a 20-year span. Nineteen patients (16 BH and 3 UH) had subglottic hemangioma. BH and UH group overlap on the median pattern (tongue, gum, lips, chin and neck). Median pattern, particularly the neck area and telangiectatic subtype of IH were significantly associated with subglottic involvement. Patients presenting with telangiectatic beard IH localized on the median area need early ENT exploration. They should be treated before respiratory symptoms occur. © 2016 European Academy of Dermatology and Venereology.

Infantile hydrocephalus: a review of epidemiology, classification and causes

PubMed Central

Tully, Hannah M; Dobyns, William B

2015-01-01

Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1,000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research. PMID:24932902

[Course and treatment of infantile asthma in our milieu].

PubMed

Scrigni, A; Grenoville, M; de Sarasqueta, P; Verna, R; Breiter, P; Jimenez, C

1993-01-01

We studied the clinical evolution and therapeutic approach of 50 children who were treated at the Emergency Room for an asthmatic crisis. We observed a high frequency of early onset of asthma before one year of age (n:16), constant symptoms between the crisis (n:34) and previous admissions before the present crisis (n:34) and previous admissions before the present crisis (n:16). Most cases did not have a family doctor. In 16 cases, the present crisis had four or more days of duration. We observed a frequent administration of suboptimal doses of bronchodilator and antiinflammatory drugs. These results show a non satisfactory treatment of infantile asthma.

[The medical and social impact of the gross domestic product on the life expectancy and infantile mortality in Romania].

PubMed

Rada, Cornelia; Albu, Adriana; Baciu, Adina; Gavăt, Viorica; Petrariu, F D

2006-01-01

In this study we have analyzed the correlations between the GDP reported on every inhabitant and the life expectancy respective the infantile mortality rates. Analysis cover 11 countries, divided in four categories: three former countries members of EU (France, Italy, Sweden), three countries recently admitted (2004) in E.U. (Poland, Slovenia, Hungary), two countries which will join E.U. in 2007 and other three countries none located in Europe (Canada, Japan, USA). In the countries that invest a lot in health care system the life expectancy at birth is bigger that in other countries, but this relation is not a linear one. Infantile mortality in modern society is strongly influenced by the socio-economic status.

[Neuroanatomical, genetic and neurochemical aspects of infantile autism].

PubMed

Gerhant, Aneta; Olajossy, Marcin; Olajossy-Hilkesberger, Luiza

2013-01-01

Infantile autism is a neurodevelopmental disorder characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. The etiopathogenetic processes of autism are extremely complex, which is reflected in the varying course and its symptomatology. Trajectories of brain development and volumes of its structures are aberrant in autistic patients. It is suggested that disturbances in sertotoninergic, gabaergic, glutaminergic, cholinergic and dopaminergic neurotransmission can be responsible for symptoms of autism as well as can disturb the development of the young brain. The objective of this article is to present the results of reasearch on neuroanatomical, neurochemical and genetic aspects of autism.

[Allergen immunotherapy: Mechanisms of action, and therapeutic and socioeconomic impact Consensus of the Asociación Colombiana de Alergia, Asma e Imunología].

PubMed

Sánchez, Jorge; Cardona, Ricardo; Caraballo, Luis; Serrano, Carlos; Ramírez, Ruth; Díez, Susana; García, Elizabeth; Segura, Ana María; Cepeda, Alfonso; Minotas, María

2016-09-01

Allergies comprise a set of highly prevalent diseases. When allergic processes are not controlled, they can endanger patients' health and lives, and have an important economic and social impact. The aim of this paper is to present a practical consensus of the scientific evidence on the use of immunotherapy in allergic diseases. A collaborative review made by various institutes and universities in Colombia was carried out upon request of the Asociación Colombiana de Alergia, Asma e Imunología, led by general practitioners, allergists, immunologists, internists and paediatricians with experience in the field of allergies. As a result, based on current national and international scientific evidence, we describe in detail what immunotherapy is about, its indications, contraindications and its economic and health benefits. Conclusions show immunotherapy as a clinically effective and safe treatment, which can substantially reduce the cost of the overall treatment of allergic patients.

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.

PubMed

Helman, Guy; Caldovic, Ljubica; Whitehead, Matthew T; Simons, Cas; Brockmann, Knut; Edvardson, Simon; Bai, Renkui; Moroni, Isabella; Taylor, J Michael; Van Haren, Keith; Taft, Ryan J; Vanderver, Adeline; van der Knaap, Marjo S

2016-03-01

Succinate dehydrogenase-deficient leukoencephalopathy is a complex II-related mitochondrial disorder for which the clinical phenotype, neuroimaging pattern, and genetic findings have not been comprehensively reviewed. Nineteen individuals with succinate dehydrogenase deficiency-related leukoencephalopathy were reviewed for neuroradiological, clinical, and genetic findings as part of institutional review board-approved studies at Children's National Health System (Washington, DC) and VU University Medical Center (Amsterdam, the Netherlands). All individuals had signal abnormalities in the central corticospinal tracts and spinal cord where imaging was available. Other typical findings were involvement of the cerebral hemispheric white matter with sparing of the U fibers, the corpus callosum with sparing of the outer blades, the basis pontis, middle cerebellar peduncles, and cerebellar white matter, and elevated succinate on magnetic resonance spectroscopy (MRS). The thalamus was involved in most studies, with a predilection for the anterior nucleus, pulvinar, and geniculate bodies. Clinically, infantile onset neurological regression with partial recovery and subsequent stabilization was typical. All individuals had mutations in SDHA, SDHB, or SDHAF1, or proven biochemical defect. Succinate dehydrogenase deficiency is a rare leukoencephalopathy, for which improved recognition by magnetic resonance imaging (MRI) in combination with advanced sequencing technologies allows noninvasive diagnostic confirmation. The MRI pattern is characterized by cerebral hemispheric white matter abnormalities with sparing of the U fibers, corpus callosum involvement with sparing of the outer blades, and involvement of corticospinal tracts, thalami, and spinal cord. In individuals with infantile regression and this pattern of MRI abnormalities, the differential diagnosis should include succinate dehydrogenase deficiency, in particular if MRS shows elevated succinate. © 2016 American

Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.

PubMed

Intusoma, Utcharee; Hayeeduereh, Fadell; Plong-On, Oradawan; Sripo, Thanya; Vasiknanonte, Punnee; Janjindamai, Supachai; Lusawat, Apasri; Thammongkol, Sasipa; Visudtibhan, Anannit; Limprasert, Pornprot

2011-09-01

To perform CDKL5 mutation screening in Thai children with cryptogenic infantile intractable epilepsy and to determine the clinical sensitivity of CDKL5 screening when different inclusion criteria were applied. Children with cryptogenic infantile intractable epilepsy were screened for CDKL5 mutation using multiplex ligation-dependent probe amplification and DNA sequencing. The clinical sensitivity was reviewed by combining the results of studies using similar inclusion screening criteria. Thirty children (19 girls and 11 boys) with a median seizure onset of 7 months were screened. Almost a half had infantile spasms and one fifth had stereotypic hand movements. A novel c.2854C>T (p.R952X) was identified in an ambulatory girl who had severe mental retardation, multiple types of seizures without Rett-like features. Her mother had a mild intellectual disability, yet her grandmother and half sister were normal despite having the same genetic alteration (random X-inactivation patterns). The pathogenicity of p.R952X identified here was uncertain since healthy relatives and 6 female controls also harbor this alteration. The clinical sensitivity of CDKL5 mutation screening among females with Rett-like features and negative MECP2 screening was 7.8% while the clinical sensitivity among females having cryptogenic intractable seizures with an onset before the ages of 12, 6 and 3 months were 4.7, 11.6 and 14.3%, respectively. Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

[Infantile autism and mirror neurons].

PubMed

Cornelio-Nieto, J O

2009-02-27

Infantile autism is a disorder that is characterised by alterations affecting reciprocal social interactions, abnormal verbal and non-verbal communication, poor imaginative activity and a restricted repertoire of activities and interests. The causes of autism remain unknown, but there are a number of different approaches that attempt to explain the neurobiological causes of the syndrome. A recent theory that has been considered is that of a dysfunction in the mirror neuron system (MNS). The MNS is a neuronal complex, originally described in monkeys and also found in humans, that is related with our movements and which offers specific responses to the movements and intended movements of other subjects. This system is believed to underlie processes of imitation and our capacity to learn by imitation. It is also thought to play a role in language acquisition, in expressing the emotions, in understanding what is happening to others and in empathy. Because these functions are altered in children with autism, it has been suggested that there is some dysfunction present in the MNS of those with autism. Dysfunction of the MNS could account for the symptoms that are observed in children with autism.

Maternally inherited Leigh syndrome: an unusual cause of infantile apnea.

PubMed

Shuk-kuen Chau, Christy; Kwok, Ka-li; Ng, Daniel K; Lam, Ching-Wan; Tong, Sui-Fan; Chan, Yan-Wo; Siu, Wai-Kwan; Yuen, Yuet-Ping

2010-06-01

Leigh Syndrome is an uncommon cause of infantile apnea. We report a 5-month-old girl with sudden respiratory arrest followed by episodic hyper- and hypo-ventilation, encephalopathy, and persistent lactic acidosis. Computed tomography of the brain revealed symmetric low densities over the basal ganglia, internal capsule, thalami, and midbrain. Cardiac echocardiogram was suggestive of hypertrophic cardiomyopathy. Diagnosis of Leigh syndrome due to T8993G mutation was confirmed with polymerase chain reaction and direct DNA sequencing of mitochondrial genome. To our knowledge, this is the first report of proven maternally inherited Leigh syndrome in Hong Kong.

Expression of HES and HEY genes in infantile hemangiomas.

PubMed

Adepoju, Omotinuwe; Wong, Alvin; Kitajewski, Alex; Tong, Karen; Boscolo, Elisa; Bischoff, Joyce; Kitajewski, Jan; Wu, June K

2011-08-11

Infantile hemangiomas (IHs) are the most common benign tumor of infancy, yet their pathogenesis is poorly understood. IHs are believed to originate from a progenitor cell, the hemangioma stem cell (HemSC). Recent studies by our group showed that NOTCH proteins and NOTCH ligands are expressed in hemangiomas, indicating Notch signaling may be active in IHs. We sought to investigate downstream activation of Notch signaling in hemangioma cells by evaluating the expression of the basic HLH family proteins, HES/HEY, in IHs. HemSCs and hemangioma endothelial cells (HemECs) are isolated from freshly resected hemangioma specimens. Quantitative RT-PCR was performed to probe for relative gene transcript levels (normalized to beta-actin). Immunofluorescence was performed to evaluate protein expression. Co-localization studies were performed with CD31 (endothelial cells) and NOTCH3 (peri-vascular, non-endothelial cells). HemSCs were treated with the gamma secretase inhibitor (GSI) Compound E, and gene transcript levels were quantified with real-time PCR. HEY1, HEYL, and HES1 are highly expressed in HemSCs, while HEY2 is highly expressed in HemECs. Protein expression evaluation by immunofluorescence confirms that HEY2 is expressed by HemECs (CD31+ cells), while HEY1, HEYL, and HES1 are more widely expressed and mostly expressed by perivascular cells of hemangiomas. Inhibition of Notch signaling by addition of GSI resulted in down-regulation of HES/HEY genes. HES/HEY genes are expressed in IHs in cell type specific patterns; HEY2 is expressed in HemECs and HEY1, HEYL, HES1 are expressed in HemSCs. This pattern suggests that HEY/HES genes act downstream of Notch receptors that function in distinct cell types of IHs. HES/HEY gene transcripts are decreased with the addition of a gamma-secretase inhibitor, Compound E, demonstrating that Notch signaling is active in infantile hemangioma cells.

Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia.

PubMed

Young-Lin, Nichole; Shalev, Sarah; Glenn, Orit A; Gardner, Marisa; Lee, Chung; Wynshaw-Boris, Anthony; Gelfand, Amy A

2013-12-10

A 7-month-old boy with glutaric aciduria type 1 (GA1) presented with 1 week of clustered flexor spasms. Examination revealed mild axial hypotonia without encephalopathy. Video-EEG monitoring revealed hypsarrhythmia and infantile spasms (figure, A). MRI showed acute basal ganglia injury (figure, B). After 3 weeks of prednisolone treatment, 5-month follow-up showed continued resolution of hypsarrhythmia and spasms.

Infantile Amnesia across the Years: A 2-Year Follow-Up of Children's Earliest Memories

ERIC Educational Resources Information Center

Peterson, Carole; Warren, Kelly L.; Short, Megan M.

2011-01-01

Although infantile amnesia has been investigated for many years in adults, only recently has it been investigated in children. This study was a 2-year follow-up and extension of an earlier study. Children (4-13 years old) were asked initially and 2 years later for their earliest 3 memories. At follow-up, their age at the time of these memories…

The prevalence of intraspinal anomalies in infantile and juvenile patients with "presumed idiopathic" scoliosis: a MRI-based analysis of 504 patients.

PubMed

Zhang, Wen; Sha, Shifu; Xu, Leilei; Liu, Zhen; Qiu, Yong; Zhu, Zezhang

2016-04-27

Though several studies have reported the incidence of intraspinal neural axis abnormalities in infantile and juvenile "presumed idiopathic" scoliosis, there has been a varying prevalence ranging from 11.1 to 26.0% based on a limited sample size. Therefore, such inconclusive findings have resulted in some questions on the MRI-associated role in the management of these patients. We aimed to investigate the prevalence and distribution of intraspinal anomalies in the infantile and juvenile patients with "presumed idiopathic" scoliosis and to explore the radiographic and clinical indicators with large sample size. A total of 504 infantile and juvenile patients diagnosed with "presumed idiopathic" scoliosis were examined for potentially-existing neural axis abnormalities by MRI. Patients were grouped into two cohorts according to the presence of neural axis abnormalities. Radiographic parameters including curve magnitude, curve pattern, location of apex, degree of thoracic kyphosis, and span of curve were recorded and compared between the two groups. The prevalence of the neural abnormalities between the infantile-age group and juvenile-age group was also compared. The student t test was used to evaluate the differences of continuous variables and the chi-square test was used to evaluate the difference of categorical variables. Fisher exact test was applied to detect the difference of the rate of intraspinal anomalies between the "infantile idiopathic scoliosis" and "juvenile idiopathic scoliosis" group. Involving the spinal cord, 94 patients (18.7%) were found to have a neural abnormality: Arnold-Chiari malformation alone in 43 patients, Arnold-Chiari malformation combined with syringomyelia in 18 patients, isolated syringomyelia in 13 patients, diastematomyelia in six patients, tethered cord combined with diastematomyelia in six patients, tethered cord alone in four patients, and other uncommon intraspinal abnormalities in the remaining four patients. Totally Arnold

Infantile bilateral glaucoma in a child with ectodermal dysplasia.

PubMed

Callea, Michele; Vinciguerra, Agatino; Willoughby, Colin E; Deroma, Laura; Clarich, Gabriella

2013-01-01

Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.

Development and Validation of a Quality-of-Life Instrument for Infantile Hemangiomas.

PubMed

Chamlin, Sarah L; Mancini, Anthony J; Lai, Jin-Shei; Beaumont, Jennifer L; Cella, David; Adams, Denise; Drolet, Beth; Baselga, Eulalia; Frieden, Ilona J; Garzon, Maria; Holland, Kristin; Horii, Kimberly A; Lucky, Anne W; McCuaig, Catherine; Metry, Denise; Morel, Kimberly D; Newell, Brandon D; Nopper, Amy J; Powell, Julie; Siegel, Dawn; Haggstrom, Anita N

2015-06-01

Infantile hemangiomas (IH) are common tumors for which there is no validated disease-specific instrument to measure the quality of life in infants and their parents/caregivers during the critical first months of life. This study prospectively developed and validated a quality-of-life instrument for patients with IH and their parents/caregivers and correlated demographic and clinical features to the effects on the quality of life. A total of 220 parents/caregivers completed the 35-item Infantile Hemangioma Quality-of-Life (IH-QoL) instrument and provided demographic information. The dimensionality of the items was evaluated using factor analysis, with results suggesting four factors: child physical symptoms, child social interactions, parent emotional functioning, and parent psychosocial functioning. Each factor fit the Rasch measurement model with acceptable fit index (mean square <1.4) and demonstrated excellent internal consistency, with alpha ranging from 0.76 to 0.88. The final instrument consists of four scales with a total of 29 items. Content validity was verified by analyzing parents' responses to an open-ended question. Test-retest reliability at a 48-hour interval was supported by a total IH-QoL intraclass correlation coefficient of 0.84. Certain clinical characteristics of hemangioma, including those located on the head and neck, in the proliferative stage, and requiring treatment, are associated with a greater impact on QoL.

Simple Preparation of Timolol 0.5% Gel from Eye Drop Solution for Superficial Infantile Hemangiomas.

PubMed

Choo, Winnie

2017-01-01

The discovery of beta-adrenergic blocker effects on infantile hemangiomas has affected the choice of treatment in recent years. Oral propranolol is effective in treating infantile hemangiomas, but the risk of systemic side effects remains a concern. Data from literature review reported positive clinical outcomes with no major adverse effects observed in children using topical beta-blocker such as timolol maleate. Topical application of timolol eye drop has been mentioned in few studies, most of which reported that the solution cannot stay on the site of application due to its fluidity. Adding hydroxyethyl cellulose into a timolol solution increased its viscosity by forming a hydrogel and thus changed the rheology property. The compounded timolol gel exhibited thixotropy property allowing better and longer contact at sites of application. Experimental data from literature review showed desirable characteristics and measurable flux of timolol across human stratum corneum. Gel dosage form allows easy and precise application and maximizes timolol's therapeutic efficacy at the sites of application. Copyright© by International Journal of Pharmaceutical Compounding, Inc.

Malassezia furfur in infantile seborrheic dermatitis.

PubMed

Wananukul, Siriwan; Chindamporn, Ariya; Yumyourn, Poomjit; Payungporn, Sunchai; Samathi, Chanchuree; Poovorawan, Yong

2005-01-01

Our objective was to study both incidence and various strains of Malassezia in infantile seborrheic dermatitis (ISD). Sixty infants between 2 weeks and 2 years old with clinical diagnosis of ISD at the Department of Pediatrics, King Chulalongkorn Memorial Hospital from May 2002 to April 2003 were recruited. Malassezia spp. were isolated from cultured skin samples of the patients, genomic DNA was extracted and the ITS1 rDNA region was amplified. The PCR product was examined by agarose gel electrophoresis and DNA sequences were determined. The ITS1 sequences were also subjected to phylogenetic analysis and species identification. ISD is most commonly found in infants below the age of 2 months (64%), followed by those between 2 and 4 months (28%) old. Cultures yielded yeast-like colonies in 15 specimens. PCR yielded 200-bp products (Candida) in 3 patients and 300-bp products (Malassezia furfur) in 12 patients (18%). Sugar fermentation using API 20C aux performed on the three 200-bp PCR products yielded Candida species. M. furfur was the only Malassezia recovered from skin scrapings of children with ISD.

Experimental Infantile Polycystic in Kindey Rats the Influence of Age and Sex

PubMed Central

McGeoch, J. E. M.; Woodhouse, M. A.; Darmady, E. M.

1972-01-01

The nephrotoxic effects of an anti-inflammatory compound 5,6,7,8 tetrahydrocarbozole-3-acetic acid in rats were found to be age and sex correlated. Morphologically the experimental lesion mimicked infantile polycystic disease. Application of the drug produced a lowering of the serum gamma globulins, a rise in the urinary protein and an increase in kidney weight associated with oedema and hyperplasia of the proximal and distal tubules. ImagesFig. 5Figs. 9-10Fig. 11Fig. 12Fig. 13 PMID:4115632

[Decision tree and cost-benefit analysis on strategies related to preventing maternal-infantile transmission of hepatitis B virus infection].

PubMed

Shi, Guo; Zhang, Shun-xiang

2013-03-01

To synthesize relevant data and to analyze the benefit-cost ratio on strategies related to preventing the maternal-infantile transmission of hepatitis B virus infection and to explore the optimal strategy. A decision tree model was constructed according to the strategies of hepatitis B immunization and a Markov model was conducted to simulate the complex disease progress after HBV infection. Parameters in the models were drawn from meta-analysis and information was collected from field study and review of literature. Economic evaluation was performed to calculate costs, benefit, and the benefit-cost ratio. Sensitivity analysis was also conducted and a tornado graph was drawn. In view of the current six possible strategies in preventing maternal-infantile transmission of hepatitis B virus infection, a multi-stage decision tree model was constructed to screen hepatitis B surface antigen (HBsAg) or screen for HBsAg then hepatitis B e antigen (HBeAg). Dose and the number of injections of HBIG and hepatitis B vaccine were taken into consideration in the model. All the strategies were considered to be cost-saving, while the strategy of screening for HBsAg and then offering hepatitis B vaccine of 10 µg×3 for all neonates with hepatitis B immunoglobulin (HBIG) of 100 IU×1 for the neonates born to mothers who tested positive for HBsAg appeared with most cost-saving. In the strategies, the benefit-cost ratio of using 100 IU HBIG was similar to 200 IU HBIG, and one shot of HBIG was superior to two shots. from sensitivity analysis suggested that the rates of immunization and the efficacy of the strategy in preventing maternal-infantile transmission were the main sensitive variables in the model. The passive-active immune-prophylaxis strategy that using 10 µg hepatitis B vaccine combined with 100 IU HBIG seemed to be the optimal strategy in preventing maternal-infantile transmission, while the rates of immunization and the efficacy of the strategy played the key roles in

Infantile parkinsonism-dystonia: a dopamine “transportopathy”

PubMed Central

Blackstone, Craig

2009-01-01

The dopamine transporter (DAT) retrieves the neurotransmitter dopamine from the synaptic cleft at dopaminergic synapses. Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar disorders, and DAT is a prominent site of action for drugs such as amphetamines and cocaine. In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by loss-of-function mutations in DAT that impair dopamine reuptake (see the related article beginning on page 1595). Though this might be predicted to result in dopamine excess in the synaptic cleft, it likely also causes depletion of presynaptic dopamine stores and possibly downregulation of postsynaptic dopamine receptor function, resulting in impairments in dopaminergic neurotransmission consistent with the clinical presentation. This is the first report of a genetic alteration in DAT function underlying a parkinsonian disorder. PMID:19504720

A phase II, open-label study of the efficacy and safety of imiquimod in the treatment of superficial and mixed infantile hemangioma.

PubMed

McCuaig, Catherine C; Dubois, Josée; Powell, Julie; Belleville, Claude; David, Michèle; Rousseau, Elisabeth; Gendron, Roxanne; Jafarian, Fatemeh; Auger, Isabelle

2009-01-01

To explore the efficacy and safety of imiquimod 5% cream as a treatment for infantile hemangioma. Phase II, open-label, noncomparative study of imiquimod applied during 16 weeks, with posttherapy follow-up 16 weeks later (8 months total). Outpatient pediatric tertiary care referral center in Quebec, Canada. Healthy infants up to 8.8 months of age with previously untreated, nonulcerated, proliferative superficial or mixed infantile hemangioma, excluding periorbital, or perineal localization, > or =100 cm2 in size. Topical imiquimod applied three to seven times per week for 16 weeks to infantile hemangioma. Lesion area, volume, depth (Doppler ultrasound), and color (erythema), serum drug, and interferon-alpha levels. Sixteen infants (11 girls, 5 boys) with a mean age at entry of 4.1 months and mean lesion area of 32.89 cm2, and volume of 39.98 cm3 were enrolled. Two participants discontinued treatment early, one for an adverse event (crying upon application), the other because of the lack of compliance. Local skin reactions were consistent with those reported in adults. Two cases had a decrease and three had an increase in lesion parameters; otherwise no meaningful changes in lesion area, volume, or depth were observed. At the 4-month posttreatment visit, 11 of 14 subjects had improvement in erythema (marginal homogeneity test = 2.668, p = 0.008). Measured serum drug and interferon-alpha levels were low or undetectable. Treatment of infants with infantile hemangioma with imiquimod up to seven times per week for 16 weeks was generally well tolerated with low systemic exposure. Improvement was observed in hemangioma coloration, but not lesion size, suggesting effects were limited to the superficial component.

Infantile Nystagmus and Abnormalities of Conjugate Eye Movements in Down Syndrome.

PubMed

Weiss, Avery H; Kelly, John P; Phillips, James O

2016-03-01

Subjects with Down syndrome (DS) have an anatomical defect within the cerebellum that may impact downstream oculomotor areas. This study characterized gaze holding and gains for smooth pursuit, saccades, and optokinetic nystagmus (OKN) in DS children with infantile nystagmus (IN). Clinical data of 18 DS children with IN were reviewed retrospectively. Subjects with constant strabismus were excluded to remove any contribution of latent nystagmus. Gaze-holding, horizontal and vertical saccades to target steps, horizontal smooth pursuit of drifting targets, OKN in response to vertically or horizontally-oriented square wave gratings drifted at 15°/s, 30°/s, and 45°/s were recorded using binocular video-oculography. Seven subjects had additional optical coherence tomography imaging. Infantile nystagmus was associated with one or more gaze-holding instabilities (GHI) in each subject. The majority of subjects had a combination of conjugate horizontal jerk with constant or exponential slow-phase velocity, asymmetric or symmetric, and either monocular or binocular pendular nystagmus. Six of seven subjects had mild (Grade 0-1) persistence of retinal layers overlying the fovea, similar to that reported in DS children without nystagmus. All subjects had abnormal gains across one or more stimulus conditions (horizontal smooth pursuit, saccades, or OKN). Saccade velocities followed the main sequence. Down syndrome subjects with IN show a wide range of GHI and abnormalities of conjugate eye movements. We propose that these ocular motor abnormalities result from functional abnormalities of the cerebellum and/or downstream oculomotor circuits, perhaps due to extensive miswiring.

Infantile digital fibromatosis: a rare tumour of infancy. Report of five cases.

PubMed

Girgenti, Valentina; Restano, Lucia; Arcangeli, Fabio; Cambiaghi, Stefano; Gelmetti, Carlo

2012-11-01

Infantile digital fibromatosis (IDF) is a rare tumour of infancy with a typical clinical presentation and characteristic histopathological findings. Despite an alarming appearance, IDF does not cause deep infiltration or metastasis. The traditional approach of surgical resection was recently challenged by increasing evidence of self regression in months or years. We describe the clinical history of five patients with IDF that were followed in our departments for 5 years. © 2011 The Authors. Australasian Journal of Dermatology © 2011 The Australasian College of Dermatologists.

Adult preferences for infantile facial features: an ethological approach.

PubMed

Sternglanz, S H; Gray, J L; Murakami, M

1977-02-01

In 1943 Konrad Lorenz postulated that certain infantile cues served as releasers for caretaking behaviour in human adults. This study is an attempt to confirm this hypothesis and to identify relevant cues. The stimuli studied were variations in facial features, and the responses were ratings of the attractiveness of the resultant infant faces. Parametric variations of eye height, eye width, eye height and width, iris size, and vertical variations in feature position (all presented in full-face drawings) were tested for their effect on the ratings, and highly significant preferences for particular stimuli were found. In general these preferences are consistent across a wide variety of environmental factors such as social class and experience with children. These findings are consistent with an ethological interpretation of the data.

Pain-relieving agents for infantile colic.

PubMed

Biagioli, Elena; Tarasco, Valentina; Lingua, Carla; Moja, Lorenzo; Savino, Francesco

2016-09-16

Infantile colic is a common disorder in the first months of life, affecting somewhere between 4% and 28% of infants worldwide, depending on geography and definitions used. Although it is self limiting and resolves by four months of age, colic is perceived by parents as a problem that requires action. Pain-relieving agents, such as drugs, sugars and herbal remedies, have been suggested as interventions to reduce crying episodes and severity of symptoms. To assess the effectiveness and safety of pain-relieving agents for reducing colic in infants younger than four months of age. We searched the following databases in March 2015 and again in May 2016: CENTRAL, Ovid MEDLINE, Embase and PsycINFO, along with 11 other databases. We also searched two trial registers, four thesis repositories and the reference lists of relevant studies to identify unpublished and ongoing studies. We included randomised controlled trials (RCTs) and quasi-RCTs evaluating the effects of pain-relieving agents given to infants with colic. We used the standard methodological procedures of The Cochrane Collaboration. We included 18 RCTs involving 1014 infants. All studies were small and at high risk of bias, often presenting major shortcomings across multiple design factors (e.g. selection, performance, attrition, lack of washout period).Three studies compared simethicone with placebo, and one with Mentha piperita; four studies compared herbal agents with placebo; two compared sucrose or glucose with placebo; five compared dicyclomine with placebo; and two compared cimetropium - one against placebo and the other at two different dosages. One multiple-arm study compared sucrose and herbal tea versus no treatment. Simethicone. Comparison with placebo revealed no difference in daily hours of crying reported for simethicone at the end of treatment in one small, low-quality study involving 27 infants. A meta-analysis of data from two cross-over studies comparing simethicone with placebo showed no

A Tale of Treatable Infantile Neuroregression and Diagnostic Dilemma with Glutaric Aciduria Type I

PubMed Central

Yoganathan, Sangeetha; Varman, Mugil; Oommen, Samuel Philip; Thomas, Maya

2017-01-01

Nutritional deficiencies related neurological manifestations are not uncommon in infants and children. Here, we describe an infant with Vitamin B12 deficiency due to depleted maternal Vitamin B12 status presenting with progressive encephalopathy and extrapyramidal signs. Diagnosis of infantile tremor syndrome was established in our patient based on the clinical and biochemical parameters. Magnetic resonance imaging had shown frontotemporal atrophy with widened Sylvian fissures and prominent cerebrospinal fluid spaces. Clinical and imaging findings might create a diagnostic dilemma with glutaric aciduria type I. Knowledge and identification of infantile tremor syndrome are essential, as it is a potentially treatable disorder. Our patient had significant developmental gains with Vitamin B12 treatment and infant stimulation program. Vitamin B12 deficiency must be looked for as a cause of neuroregression in children hailing from low socioeconomic status, infants of vegetarian mother, and infants with delayed or improper weaning. Screening for Vitamin B12 deficiency is essential in all infants and children with unexplained neuroregression, as this disorder is potentially treatable. More population-based studies in India are needed to explore the prevalence of Vitamin B12 deficiency in pregnant and lactating women and also to assess the need for Vitamin B12 supplementation during pregnancy and lactation. PMID:29675077

A Tale of Treatable Infantile Neuroregression and Diagnostic Dilemma with Glutaric Aciduria Type I.

PubMed

Yoganathan, Sangeetha; Varman, Mugil; Oommen, Samuel Philip; Thomas, Maya

2017-01-01

Nutritional deficiencies related neurological manifestations are not uncommon in infants and children. Here, we describe an infant with Vitamin B12 deficiency due to depleted maternal Vitamin B12 status presenting with progressive encephalopathy and extrapyramidal signs. Diagnosis of infantile tremor syndrome was established in our patient based on the clinical and biochemical parameters. Magnetic resonance imaging had shown frontotemporal atrophy with widened Sylvian fissures and prominent cerebrospinal fluid spaces. Clinical and imaging findings might create a diagnostic dilemma with glutaric aciduria type I. Knowledge and identification of infantile tremor syndrome are essential, as it is a potentially treatable disorder. Our patient had significant developmental gains with Vitamin B12 treatment and infant stimulation program. Vitamin B12 deficiency must be looked for as a cause of neuroregression in children hailing from low socioeconomic status, infants of vegetarian mother, and infants with delayed or improper weaning. Screening for Vitamin B12 deficiency is essential in all infants and children with unexplained neuroregression, as this disorder is potentially treatable. More population-based studies in India are needed to explore the prevalence of Vitamin B12 deficiency in pregnant and lactating women and also to assess the need for Vitamin B12 supplementation during pregnancy and lactation.

EFFECTS OF PRENATAL TESTOSTERONE PROPIONATE AND VINCLOZOLIN ON PERINATAL AND INFANTILE DEVELOPMENT OF MALE AND FEMALE RATS

EPA Science Inventory

Effects of Prenatal Testosterone Propionate and Vinclozolin on Perinatal and Infantile Development of Male and Female Rats
Cynthia Wolf1,2, Jonathan Furr1, Gerald A. LeBlanc2, and L. Earl Gray, Jr.1
1USEPA, NHEERL, RTD, EB, RTP, NC 27711, 2Dept. of Environmental and Molecu...

Epilepsy and Other Neurological Diseases in the Parents of Children with Infantile Autism. A Case Control Study

ERIC Educational Resources Information Center

Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

2008-01-01

In order to study the broader phenotype of infantile autism (IA) we compared the rates and types of epilepsy and other neurological diseases in the parents of 111 consecutively admitted patients with IA with a matched control group of parents of 330 children from the general population. All participants were screened through the nationwide Danish…

Comparison between medial rectus pulley fixation and augmented recession in children with convergence excess and variable-angle infantile esotropia.

PubMed

Fouad, Heba M; Abdelhakim, Mohamad A; Awadein, Ahmed; Elhilali, Hala

2016-10-01

To compare the outcomes of medial rectus (MR) muscle pulley fixation and augmented recession in children with convergence excess esotropia and variable-angle infantile esotropia. This was a prospective randomized interventional study in which children with convergence excess esotropia or variable-angle infantile esotropia were randomly allocated to either augmented MR muscle recession (augmented group) or MR muscle pulley posterior fixation (pulley group). In convergence excess, the MR recession was based on the average of distance and near angles of deviation with distance correction in the augmented group, and on the distance angle of deviation in the pulley group. In variable-angle infantile esotropia, the MR recession was based on the average of the largest and smallest angles in the augmented group and on the smallest angle in the pulley group. Pre- and postoperative ductions, versions, pattern strabismus, smallest and largest angles of deviation, and angle disparity were analyzed. Surgery was performed on 60 patients: 30 underwent bilateral augmented MR recession, and 30 underwent bilateral MR recession with pulley fixation. The success rate was statistically significantly higher (P = 0.037) in the pulley group (70%) than in the augmented group (40%). The postoperative smallest and largest angles and the angle disparity were statistically significantly lower in the pulley group than the augmented group (P < 0.01). Medial rectus muscle pulley fixation is a useful surgical step for addressing marked variability of the angle in variable angle esotropia and convergence excess esotropia. Copyright © 2016 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Infantile zinc deficiency: Association with autism spectrum disorders

PubMed Central

Yasuda, Hiroshi; Yoshida, Kazuya; Yasuda, Yuichi; Tsutsui, Toyoharu

2011-01-01

Elucidation of the pathogenesis and effective treatment of autism spectrum disorders is one of the challenges today. In this study, we examine hair zinc concentrations for 1,967 children with autistic disorders (1,553 males and 414 females), and show considerable association with zinc deficiency. Histogram of hair zinc concentration was non-symmetric with tailing in lower range, and 584 subjects were found to have lower zinc concentrations than −2 standard deviation level of its reference range (86.3–193ppm). The incidence rate of zinc deficiency in infant group aged 0–3 year-old was estimated 43.5 % in male and 52.5 % in female. The lowest zinc concentration of 10.7 ppm was detected in a 2-year-old boy, corresponding to about 1/12 of the control mean level. These findings suggest that infantile zinc deficiency may epigenetically contribute to the pathogenesis of autism and nutritional approach may yield a novel hope for its treatment and prevention. PMID:22355646

A retrospective study of chiropractic treatment of 276 danish infants with infantile colic.

PubMed

Wiberg, Karin R; Wiberg, Jesper M M

2010-09-01

The aim of this study was to investigate if the outcome of excessively crying infants treated with chiropractic manipulation (1) was associated with age and/or (2), at least partially, can be explained by age according to the natural decline in crying. This was a retrospective evaluation of clinical records of 749 infants from a private Danish chiropractic practice. All of the infants were healthy, thriving infants born to term within the age of 0 to 3 months who fulfilled the diagnostic criteria for excessively crying infants (infantile colic), whose parents sought chiropractic treatment. The infants were treated using chiropractic management as decided by the treating doctor of chiropractic, and changes in crying based upon the parents' report were noted as improved, uncertain, or nonrecovered. Age predictor groups were cross-tabulated against the outcome variables, and difference between classification groups was tested with χ(2) tables and confidence intervals. Slightly older age was found to be linked to excessively crying infants who experienced clinical improvement. However, no apparent link between the clinical effect of chiropractic treatment and a natural decline in crying was found for this group of infants. The findings of this study do not support the assumption that effect of chiropractic treatment of infantile colic is a reflection of the normal cessation of this disorder. Copyright © 2010 National University of Health Sciences. Published by Mosby, Inc. All rights reserved.

Acute Infantile Encephalopathy Predominantly Affecting The Frontal Lobes (AIEF).

PubMed

Raha, Sarbani; Udani, Vrajesh

2012-12-01

Acute Infantile Encephalopathy Predominantly Affecting the Frontal Lobes (AIEF) is a relatively recent described entity. This article includes case reports of two patients who had bifrontal involvement during acute febrile encephalopathy. Case 1 describes a 1-y-old boy who presented with hyperpyrexia and dialeptic seizures. Imaging revealed significant bilateral frontal lobe involvement while serology proved presence of Influenza B infection. Over a period of one wk, he recovered with significant cognitive decline and perseveratory behavior. Another 6-y-old boy presented with language and behavioral problems suggestive of frontal dysfunction after recovering from prolonged impairment of consciousness following a convulsive status epilepticus. Bilateral superior frontal lesions with gyral swelling was evident on neuroimaging. These cases are among the very few cases of AIEF described in recent literature and the article also reviews this unique subtype of acute encephalopathy.

[Usage and efficacy of timolol maleate eye drops in treatment of superficial infantile hemangioma].

PubMed

Wu, Qizhen; Shi, Qingmei; Long, Jianhong; Li, Jiaguang; Guo, Yu; Lei, Shaorong

2017-06-28

To determine drug dose and usage of timolol maleate eye drops in the treatment of superficial infantile hemangioma.
 Methods: A total of 250 superficial hemangioma infants were recruited and assigned into 5 groups (n=50 for each group): an external application group and 4 exterior coating groups (2, 4, 6, 8 times per day). We evaluated the therapeutic effect of different methods for drug application (external application or exterior coating) and the frequency for drug administration on superficial infantile hemangioma.
 Results: The external application group (twice a day and 0.5 hour per time) showed better effect than that in the exterior coating group with twice a day (P<0.001). The difference in therapeutic effect between the exterior coating group with 6 times a day and exterior coating group with twice a day or with 3 times a day was significant (P<0.001). The differences in drug efficacy were not found among the exterior coating group with 6 times a day, the exterior coating group with 8 times a day, or the external application group with twice a day (All P>0.05).
 Conclusion: Drug dose may affect the therapeutic effect of timolol maleate eye drops in superficial hemangioma infants, and exterior coating with 6 times a day may achieve the best curative effect.

77 FR 5403 - Conservation of Antarctic Animals and Plants

Federal Register 2010, 2011, 2012, 2013, 2014

2012-02-03

... Antarctic Specially Protected Areas (ASPA), Antarctic Specially Managed Areas (ASMA) and Historical Sites or... managed area (ASMA 7) and five historical sites and monuments in Antarctica (HSM 83-87). Public... Antarctic Specially Managed Areas (ASMA). Detailed maps and descriptions of the sites and complete...

Effects of tenotomy on patients with infantile nystagmus syndrome: foveation improvement over a broadened visual field.

PubMed

Wang, Zhong; Dell'Osso, Louis F; Jacobs, Jonathan B; Burnstine, Robert A; Tomsak, Robert L

2006-12-01

To investigate the effects of four-muscle tenotomy on visual function and gaze angle in patients with infantile nystagmus syndrome (INS). Eye movements of nine patients with infantile nystagmus were recorded using infrared reflection or high-speed digital video techniques. Experimental protocols were designed to record the patients' eye-movement waveforms, pre- and post-tenotomy, at different gaze angles. We used the eXpanded Nystagmus Acuity Function (NAFX) to measure tenotomy-induced changes in the nystagmus at primary position and various gaze angles. The longest foveation domains (LFD) were measured from fitted curves. Peak-to-peak nystagmus amplitudes and foveation-period durations were also measured. All measurements were made unmasked. All seven patients with narrow, high-NAFX, gaze-angle regions showed broadening of these regions of higher visual function. Three patients showed moderate NAFX improvement (13.9-32.6%) at primary position, five showed large improvement (39.9-162.4%), and one showed no NAFX change (due to his high pretenotomy NAFX). Primary position measured acuities improved in six patients. All patients had reductions in nystagmus amplitudes ranging from 14.6 to 37%. The duration of the foveation period increased in all nine patients (11.2-200%). The percentage improvements in both the NAFX and the LFD decreased with higher pretenotomy values. In addition to elevating primary position NAFX, tenotomy also broadens the high-NAFX regions. This broadening effect is more prominent in patients who had sharp pretenotomy NAFX peaks. Four-muscle tenotomy produces higher primary position NAFX increases in infantile nystagmus patients whose pretenotomy values are relatively low, with the improvement decreasing at higher pretenotomy values. The tenotomy procedure improves visual function beyond primary position acuity. This extends the utility of surgical therapy to several different classes of patients with INS for whom other procedures are

Solitary renal myofibromatosis: an unusual cause of infantile hypertension.

PubMed

Kasaragod, A B; Lucia, M S; Lum, G M; Caldwell, S; Stork, L; Stenmark, K R

1999-05-01

Renovascular disease accounts for the vast majority of cases of infantile hypertension with complications resulting from umbilical arterial catheterization predominating in the neonatal period and fibrodysplastic lesions of the renal artery predominating outside the neonatal period. We report a previously undescribed cause of renovascular hypertension: solitary renal myofibromatosis. A 9-month-old male infant was transported to the intensive care unit at Children's Hospital in Denver, Colorado, for evaluation and treatment of a dilated cardiomyopathy and severe systemic hypertension. The child was full-term with no perinatal problems. Specifically, the child never required umbilical arterial catheterization. He was well until 6 months of age when his parents noted poor weight gain. At 9 months of age, he was evaluated at the referral hospital for failure to thrive. On examination he was noted to have a blood pressure of 170/110 mm Hg, but no other abnormalities. A chest radiograph showed cardiomegaly. Laboratory studies demonstrated normal electrolytes, blood urea nitrogen, and creatinine. However, urinalysis demonstrated 4+ protein without red blood cells. An echocardiogram showed severe left ventricular dilatation with an ejection fraction of 16%. On admission the child was noted to be cachectic. His vital signs, including blood pressure, were normal for age. The physical examination was unremarkable. Serum electrolytes, blood urea nitrogen, and creatinine were normal. Echocardiographic studies suggested a dilated hypertrophic cardiomyopathy. He was started on digoxin and captopril. Subsequently, he demonstrated episodic hypertension ranging from 170/90 to 220/130 mm Hg. A repeat echocardiogram 24 hours after admission demonstrated a purely hypertrophic cardiomyopathy. Verapamil and nifedipine were added to the treatment regimen in an effort to better control the blood pressure without success. Urine and blood for catecholamines and plasma renin activity

Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy.

PubMed

van Gelder, C M; van Capelle, C I; Ebbink, B J; Moor-van Nugteren, I; van den Hout, J M P; Hakkesteegt, M M; van Doorn, P A; de Coo, I F M; Reuser, A J J; de Gier, H H W; van der Ploeg, A T

2012-05-01

Classic infantile Pompe disease is an inherited generalized glycogen storage disorder caused by deficiency of lysosomal acid α-glucosidase. If left untreated, patients die before one year of age. Although enzyme-replacement therapy (ERT) has significantly prolonged lifespan, it has also revealed new aspects of the disease. For up to 11 years, we investigated the frequency and consequences of facial-muscle weakness, speech disorders and dysphagia in long-term survivors. Sequential photographs were used to determine the timing and severity of facial-muscle weakness. Using standardized articulation tests and fibreoptic endoscopic evaluation of swallowing, we investigated speech and swallowing function in a subset of patients. This study included 11 patients with classic infantile Pompe disease. Median age at the start of ERT was 2.4 months (range 0.1-8.3 months), and median age at the end of the study was 4.3 years (range 7.7 months -12.2 years). All patients developed facial-muscle weakness before the age of 15 months. Speech was studied in four patients. Articulation was disordered, with hypernasal resonance and reduced speech intelligibility in all four. Swallowing function was studied in six patients, the most important findings being ineffective swallowing with residues of food (5/6), penetration or aspiration (3/6), and reduced pharyngeal and/or laryngeal sensibility (2/6). We conclude that facial-muscle weakness, speech disorders and dysphagia are common in long-term survivors receiving ERT for classic infantile Pompe disease. To improve speech and reduce the risk for aspiration, early treatment by a speech therapist and regular swallowing assessments are recommended.

Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports.

PubMed

Vargiami, E; Papathanasiou, E; Batzios, S; Kyriazi, M; Dimitriou, E; Anastasiou, A; Michelakakis, H; Giese, A-K; Zafeiriou, D I

2016-07-01

Krabbe disease is an autosomal recessive neurodegenerative disorder due to a defect of the lysosomal enzyme β-galactocerebrosidase (β-GALC). Depending on the age of onset, the disease is classified into infantile and later-onset forms. We report neuroradiological, neurophysiological and molecular findings in two Greek patients with the infantile form of Krabbe disease. The index patients presented at the age of 3.5 and 6 months, respectively, due to developmental delay. Magnetic resonance imaging (MRI) of the first patient's brain demonstrated signs of leukodystrophy, while nerve conduction velocities (NCVs) were significantly decreased. The second patient's MRI at the age of 4 months was initially normal, but at 18 months demonstrated leukodystrophic alterations as well, whereas NCVs were also significantly delayed. In both patients, a severe decrease in β-GALC, activity supported the diagnosis of Krabbe disease, while the final diagnosis was confirmed by molecular genetic testing. Two homozygous mutations of the GALC gene, the c.411_413delTAA [p.K139del] mutation in the first patient, and the c.749T>C [p.I250T] mutation in the second patient, were identified. At their last follow-up visit at the age of 4 and 6 years, respectively, both patients were bedridden and quadri-plegic, suffering from frequent respiratory tract infections and fed through a gastrostomy. Both mutations found in homozygosity in these two unrelated patients of Greek ancestry, could pinpoint a common origin. Genotyping of patients with Krabbe disease is important, in order to contribute to the creation of a European mutation database and to further study possible genotype-phenotype correlations of the disease.

The clinical evaluation of infantile nystagmus: What to do first and why

PubMed Central

Bertsch, Morgan; Floyd, Michael; Kehoe, Taylor; Pfeifer, Wanda; Drack, Arlene V.

2017-01-01

Introduction Infantile nystagmus has many causes, some life threatening. We determined the most common diagnoses in order to develop a testing algorithm. Methods Retrospective chart review. Exclusion criteria were no nystagmus, acquired after 6 months, or lack of examination. Data collected: pediatric eye examination findings, ancillary testing, order of testing, referral, and final diagnoses. Final diagnosis was defined as meeting published clinical criteria and/or confirmed by diagnostic testing. Patients with a diagnosis not meeting the definition were “unknown.” Patients with incomplete testing were “incomplete.” Patients with multiple plausible etiologies were “multifactorial.” Patients with negative complete workup were “motor.” Results 284 charts were identified; 202 met inclusion criteria. The 3 most common causes were Albinism(19%), Leber Congenital Amaurosis(LCA)(14%) and Non-LCA retinal dystrophy (13%). Anatomic retinal disorders comprised 10%, motor another 10%. The most common first test was MRI (74/202) with a diagnostic yield of 16%. For 28 MRI-first patients, nystagmus alone was the indication; for 46 MRI-first patients other neurologic signs were present. 0/28 nystagmus-only patients had a diagnostic MRI while 14/46 (30%) with neurologic signs did. Yield of ERG as first test was 56%, OCT 55%, and molecular genetic testing 47%. 90% of patients had an etiology identified. Conclusion The most common causes of infantile nystagmus were retinal disorders (56%), however the most common first test was brain MRI. For patients without other neurologic stigmata complete pediatric eye examination, ERG, OCT and molecular genetic testing had a higher yield than MRI scan. If MRI is not diagnostic, a complete ophthalmologic workup should be pursued. PMID:28177849

Parent-child relationship quality and infantile amnesia in adults.

PubMed

Peterson, Carole; Nguyen, Duyen T K

2010-11-01

The first years of life are typically shrouded by infantile amnesia, but there is enormous variability between adults in how early and how much they can remember from this period. This study examined one possible factor affecting this variability: whether the perceived quality of parent-child relationships is associated with the number of early memories young adults can retrieve, and their age at the time of their first memory. We found such associations but they were qualified by parent gender. Mother-child relationships that were more affectively intense (greater social support but also more negative interchanges) were associated with recalling more early memories, although paternal companionship was most associated with how early an individual's first memory was. Affective tone of retrieved memories was also assessed, and a greater proportion of affectively positive memories (as well as fewer affectively neutral memories for males) was associated with high parental involvement in children's lives.

A handheld wireless device for diffuse optical spectroscopic assessment of infantile hemangiomas

NASA Astrophysics Data System (ADS)

Fong, Christopher J.; Flexman, Molly; Hoi, Jennifer W.; Geller, Lauren; Garzon, Maria; Kim, Hyun K.; Hielscher, Andreas H.

2013-03-01

Infantile hemangiomas (IH) are common vascular growths that occur in 5-10% of neonates and have the potential to cause disfiguring and even life-threatening complications. With no objective tool to monitor IH, a handheld wireless device (HWD) that uses diffuse optical spectroscopy has been developed for use in assessment of IH by measurements in absolute oxygenated and deoxygenated hemoglobin concentration as well as scattering in tissue. Reconstructions of these variables can be computed using a multispectral evolution algorithm. We validated the new system by experimental studies using phantom experiments and a clinical study is under way to assess the utility of DOI for IH.

[Infantile meningitis caused by respiratory syncytial virus].

PubMed

Shirota, Go; Morozumi, Miyuki; Ubukata, Kimiko; Shiro, Hiroyuki

2011-11-01

Respiratory syncytial (RS) virus commonly causes infantile respiratory tract infection causing significant morbidity and mortality, but rarely meningitis. We report a case of meningitis caused by RS virus subgroup B in a 56-day-old boy admitted for high fever who underwent blood examination and lumbar puncture. Empirical chemotherapy was started with intravenous ampicillin, gentamicin, and cefotaxime based on laboratory data on CSF cells (84/microL) and serum CRP (13.8mg/dL) data. RS virus subgroup B was only detected using real-time PCR comprehensive reverse transcription from the first CSF, but no bacterial gene was detected. No bacteria grew from his CSF, urine, or blood. Fever and serum CRP dropped in a few days. He had neither seizures nor disturbance of consciousness and was discharged on day 11 after admission. No evidence of encephalopathy was detected in brain MRI or electroencephalography. RS virus rarely causes meningitis, but a percentage of RS-virus-infected infants exhibit symptoms such as seizure and disturbance of consciousness. We should recognize that the RS virus may cause neurological complications associated with high morbidity and mortality.

Monitoring propranolol treatment in periocular infantile haemangioma.

PubMed

Burne, R; Taylor, R

2014-11-01

To develop a tool for assessing amblyopic risk and monitoring the treatment effect of propranolol in periocular haemangioma management. We present a study of nine children with periocular haemangioma who underwent propranolol treatment at York Hospital between 2009 and 2013.A proposed measure of amblyogenic risk based on the induced anisometropia resulting from a periocular haemangioma was calculated in the form of a single quantitative value, measured in dioptres. This calculation used published work and developed it to produce a new function, termed the delta defocus equivalent (DFE-∂).Refraction measurements were retrospectively collected from patients' notes in order to measure the trend of DFE-∂ over the treatment period with propranolol. The average DFE-∂ at commencement of propranolol was 1.54 (±0.62) D. The average at the end of treatment was 0.39 (±0.38) D. This work presents a possible tool for assessing amblyopic risk in cases of periocular infantile haemangioma. The DFE-∂ gives a measure in dioptres, which may represent the true amblyopic risk, and so be useful in supporting treatment decisions in paediatric ophthalmology.

The elusive engram: what can infantile amnesia tell us about memory?

PubMed

Callaghan, Bridget L; Li, Stella; Richardson, Rick

2014-01-01

Revealing the engram is one of the greatest challenges in neuroscience. Many researchers focus on understanding the cellular and molecular mechanisms underlying the formation and maintenance of the engram, but an underutilized approach has been to investigate analogous processes associated with forgetting. Infant rodents present an ideal model for this purpose because they display a rapid form of non-pathological forgetting known as infantile amnesia (IA). Despite the widespread importance of this interesting phenomenon, the study of the neural bases of IA has remained largely neglected. Here, we consider what IA can tell us about memory. We argue that to understand the mechanisms underlying the engram we must also gain an appreciation of the mechanisms that drive forgetting. Copyright © 2013 Elsevier Ltd. All rights reserved.

Infantile onset diabetes mellitus in developing countries - India

PubMed Central

Varadarajan, Poovazhagi

2016-01-01

Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India. PMID:27022444

Association between severe asthma and changes in the stomatognathic system.

PubMed

Carvalho-Oliveira, Mayra; Salles, Cristina; Terse, Regina; D'Oliveira, Argemiro

2016-01-01

To describe orofacial muscle function in patients with severe asthma. This was a descriptive study comparing patients with severe controlled asthma (SCA) and severe uncontrolled asthma (SUA). We selected 160 patients, who completed a sociodemographic questionnaire and the 6-item Asthma Control Questionnaire (ACQ-6), as well as undergoing evaluation of orofacial muscle function. Of the 160 patients evaluated, 126 (78.8%) and 34 (21.2%) presented with SCA and SUA, respectively, as defined by the Global Initiative for Asthma criteria. Regardless of the level of asthma control, the most frequent changes found after evaluation of muscle function were difficulty in chewing, oronasal breathing pattern, below-average or poor dental arch condition, and difficulty in swallowing. When the sample was stratified by FEV1 (% of predicted), was significantly higher proportions of SUA group patients, compared with SCA group patients, showed habitual open-mouth chewing (24.8% vs. 7.7%; p < 0.02), difficulty in swallowing water (33.7% vs. 17.3%; p < 0.04), and voice problems (81.2% vs. 51.9%; p < 0.01). When the sample was stratified by ACQ-6 score, the proportion of patients showing difficulty in swallowing bread was significantly higher in the SUA group than in the SCA group (66.6% vs. 26.6%; p < 0.01). The prevalence of changes in the stomatognathic system appears to be high among adults with severe asthma, regardless of the level of asthma control. We found that some such changes were significantly more common in patients with SUA than in those with SCA. Descrever os achados da avaliação miofuncional orofacial em pacientes com asma grave. Estudo descritivo comparando pacientes com asma grave controlada (AGC) e asma grave não controlada (AGNC). Foram selecionados 160 participantes, que responderam a um questionário sociodemográfico e o Asthma Control Questionnaire com seis questões (ACQ-6) e realizaram avaliação miofuncional orofacial. Na amostra estudada, 126 (78,8%) e 34

[The infantile sexual seduction: revolution and aftermath of Freud's theory].

PubMed

Figueroa, Gustavo C

2014-01-01

There is no question about the negative effects of child sexual abuse. Freud's seduction theory asserts that psychoneuroses in adults are caused by reactivation of forgotten recollections of gross sexual abuse (involving the genitals) that had taken place prior to the age of 8 to 10 years. His contribution consisted in the discovery of specific events, prior to puberty, which were indispensable to the formation of psychoneuroses. If an adult patient recalled an infantile sexual experience, Freud assumed the interference of a pervert: a child was sexually innocent unless it had been traumatized. But Freud's technique of clinical exploration had not attained adequate reliability and was not immune to prejudices. Freud himself dropped his mechanical, static theory that presupposed a single type of accidentally occurring trauma prior to puberty, allowing him to develop his new drive and fantasy theory.

Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder.

PubMed

Zhou, Ailing; Han, Song; Zhou, Zhaolan Joe

2017-02-01

The discovery that mutations in cyclin-dependent kinase-like 5 ( CDKL5 ) gene are associated with infantile epileptic encephalopathy has stimulated world-wide research effort to understand the molecular and genetic basis of CDKL5 disorder. Given the large number of literature published thus far, this review aims to summarize current genetic studies, draw a consensus on proposed molecular functions, and point to gaps of knowledge in CDKL5 research. A systematic review process was conducted using the PubMed search engine focusing on CDKL5 studies in the recent ten years. We analyzed these publications and summarized the findings into four sections: genetic studies, CDKL5 expression patterns, molecular functions, and animal models. We also discussed challenges and future directions in each section. On the clinical side, CDKL5 disorder is characterized by early onset epileptic seizures, intellectual disability, and stereotypical behaviors. On the research side, a series of molecular and genetic studies in human patients, cell cultures and animal models have established the causality of CDKL5 to the infantile epileptic encephalopathy, and pointed to a key role for CDKL5 in regulating neuronal function in the brain. Mouse models of CDKL5 disorder have also been developed, and notably, manifest behavioral phenotypes, mimicking numerous clinical symptoms of CDKL5 disorder and advancing CDKL5 research to the preclinical stage. Given what we have learned thus far, future identification of robust, quantitative, and sensitive outcome measures would be the key in animal model studies, particularly in heterozygous females. In the meantime, molecular and cellular studies of CDKL5 should focus on mechanism-based investigation and aim to uncover druggable targets that offer the potential to rescue or ameliorate CDKL5 disorder-related phenotypes.

Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy.

PubMed

Alreheili, Khalid; AlMehaidib, Ali; Alsaleem, Khalid; Banemi, Mohammad; Aldekhail, Wajeeh; Al-Mayouf, Sulaiman M

2012-01-01

Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disease. Typically, ISH patients present with progressive painful joint contractures, intractable diarrhea, hyperpigmented skin lesions, and peri-anal fleshy nodules. We report a case of a 19-month-old male child with atypical ISH presentation. His main clinical finding was protein-losing enteropathy due to intestinal lymphangectasia. This report is intended to enhance awareness about the gastrointestinal tract presentation of ISH.

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

PubMed

Rosas-Vargas, H; Bahi-Buisson, N; Philippe, C; Nectoux, J; Girard, B; N'Guyen Morel, M A; Gitiaux, C; Lazaro, L; Odent, S; Jonveaux, P; Chelly, J; Bienvenu, T

2008-03-01

Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well as Rett syndrome-like phenotype. To date, fewer than 20 different mutations have been reported. So far, no clear genotype-phenotype correlation has been established. We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro). Segregation analysis showed that p.Arg65Gln was inherited from the healthy father, which rules out the involvement of CDKL5 in the aetiology of the phenotype in this patient. However, the de novo occurrence was shown for p.Ala40Val and p.Leu220Pro. The p.Ala40Val mutation was observed in two unrelated patients and represented the first recurrent mutation in the CDKL5 gene. For the two de novo mutations, we analysed the cellular localisation of the wild-type and CDKL5 mutants by transfection experiments. We showed that the two CDKL5 mutations cause mislocalisation of the mutant CDKL5 proteins in the cytoplasm. Interestingly these missense mutations that result in a mislocalisation of the CDKL5 protein are associated with severe developmental delay which was apparent within the first months of life characterised by early and generalised hypotonia, and autistic features, and as well as early infantile spasms.

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

PubMed Central

Scala, E; Ariani, F; Mari, F; Caselli, R; Pescucci, C; Longo, I; Meloni, I; Giachino, D; Bruttini, M; Hayek, G; Zappella, M; Renieri, A

2005-01-01

Background: Rett syndrome is a severe neurodevelopmental disorder, almost exclusively affecting females and characterised by a wide spectrum of clinical manifestations. Both the classic form and preserved speech variant of Rett syndrome are due to mutations in the MECP2 gene. Several other variants of Rett syndrome have been described. In 1985, Hanefeld described a variant with the early appearance of convulsions. In this variant, the normal perinatal period is soon followed by the appearance of seizures, usually infantile spasms. We have observed two patients with signs of Rett syndrome showing acquired microcephaly and stereotypic midline hand movements. The disease started with generalised convulsions and myoclonic fits at 1.5 months in the first patient and with spasms at 10 days in the other, suggesting a diagnosis of the Hanefeld variant. In these patients, MECP2 point mutations and gross rearrangements were excluded by denaturing high performance liquid chromatography and real time quantitative PCR. The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation). Methods: Based on the clinical overlap between the Hanefeld variant and West syndrome, we analysed ARX and CDKL5 in the two girls. Results: We found frameshift deletions in CDKL5 in both patients; one in exon 5 (c.163_166delGAAA) and the other in exon 18 (c.2635_2636delCT). CDKL5 was then analysed in 19 classic Rett and 15 preserved speech variant patients, all MECP2 negative, but no mutations were found. Conclusion: Our results show that CDKL5 is responsible for a rare variant of Rett syndrome characterised by early development of convulsions, usually of the spasm type. PMID:15689447

[Clinical observation on fuzhong (supporting the middle-jiao) manipulation of tuina for infantile anorexia].

PubMed

Wang, Yuan-Yuan; Liu, Xiao-Ying

2014-01-01

To observe clinical therapeutic effect of fuzhong (supporting the middle-jiao) manipulation of tuina for infantile anorexia. Eighty-one children with anorexia were treated with fuzhong manipulation, including abdominal kneading, acupressure at Zhongwan (CV 12), Lanmen (Extra), Tianshu (ST 25), Zusanli (ST 36), Sanyinjiao (SP 6), spine pinching, warm moxibustion and warm scraping with supporting-yang cupping, three times a week, six times as a session. Onset time, therapeutic effect and TCM symptom scores before and after treatment were observed after two sessions and differences of therapeutic effect among different patterns were compared. Seventy-two children had the effect in one session while 41 children had the effect within half of a session. 38 cases were clinically cured, 15 cases were markedly effective, 23 cases were effective and 5 cases were failed. The total effective rate was 93.8%. Compared with before treatment, TCM symptom scores, including appetite, food intake, complexion and defecation, were all obviously improved after treatment (all P < 0.001). The clinical cured rate was 45.2% (19/42) in the pattern of dysfunction of spleen in transportation, 45.8% (11/24) in the pattern of qi deficiency of spleen and stomach, 50.0% (4/8) in the pattern of yin deficiency of spleen and stomach, 57.1% (4/7) in the pattern of liver sufficiency and spleen insufficiency, which had no obvious differences among different patterns (all P > 0.05). The fuzhong manipulation of tuina has quick onset time and satisfied clinical therapeutic effect, which could obviously improve symptoms and is fit for different patterns of infantile anorexia.

Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study.

PubMed

Klinge, L; Straub, V; Neudorf, U; Voit, T

2005-02-01

Infantile Pompe disease (IPD) is a fatal, autosomal recessive muscle-wasting disorder. Due to a deficiency of the lysosomal enzyme acid alpha-glucosidase patients develop a generalized myopathy, diaphragmatic weakness, and cardiomyopathy leading to death usually within the first year of life. So far there is no therapy available. We report on the safety and efficacy of transgenically derived recombinant human precursor acid alpha-glucosidase (rhGAA) in a 10-month follow-up study in two children with IPD who previously completed a 48-week course of enzyme replacement therapy (ERT) with the same medication at the same dose in a phase II clinical trial. Under this therapy cardiac status and muscle strength had improved, leading to survival beyond the age of one year. These results, together with data from two other phase II clinical trials encouraged further evaluation of the long-term safety and efficacy of enzyme replacement therapy in patients with infantile-onset Pompe disease. During the 10-month follow-up period, ERT was well-tolerated and neither patient experienced a single infusion-associated reaction. The initial improvements in cardiac size and function, as measured by left ventricular mass index and the fractional shortening, were maintained in both patients, and a continued improvement of motor function, as measured by the Alberta infant motor scale, was observed.

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

PubMed

Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

2017-01-01

Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease. Copyright © 2016 Elsevier B.V. All rights reserved.

Infantile ictal apneas in a child with williams-beuren syndrome.

PubMed

Myers, Kenneth A; McLeod, D Ross; Bello-Espinosa, Luis

2013-02-01

Williams-Beuren syndrome is a genetic disorder rarely associated with seizures. The few described cases of Williams-Beuren syndrome and epilepsy have primarily involved infantile spasms and deletions extending beyond the common deletion region for this disorder. We present the case of a 5-week-old child with ictal apneas and typical Williams-Beuren syndrome deletion. Diagnosis was challenging, because the child had cardiac, respiratory, and gastrointestinal abnormalities typically associated with Williams-Beuren syndrome, which are also associated with cyanotic episodes. The results of interictal electroencephalography were normal, illustrating that prolonged electroencephalography is often essential in evaluation of suspected ictal apneas. Seizure freedom was achieved with carbamazepine. Sudden death is seen in Williams-Beuren syndrome, and this case raises the question whether some of these cases may be related to ictal apneas and could potentially be preventable with appropriate pharmaceutical intervention. Copyright © 2013 Elsevier Inc. All rights reserved.

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.

PubMed

Sleat, D E; Donnelly, R J; Lackland, H; Liu, C G; Sohar, I; Pullarkat, R K; Lobel, P

1997-09-19

Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal neurodegenerative disease whose defective gene has remained elusive. A molecular basis for LINCL was determined with an approach applicable to other lysosomal storage diseases. When the mannose 6-phosphate modification of newly synthesized lysosomal enzymes was used as an affinity marker, a single protein was identified that is absent in LINCL. Sequence comparisons suggest that this protein is a pepstatin-insensitive lysosomal peptidase, and a corresponding enzymatic activity was deficient in LINCL autopsy specimens. Mutations in the gene encoding this protein were identified in LINCL patients but not in normal controls.

Fractures in Individuals with and without a History of Infantile Autism. A Danish Register Study Based on Hospital Discharge Diagnoses

ERIC Educational Resources Information Center

Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

2012-01-01

We compared the prevalence and types of fractures in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with 336 matched controls from the general population. All participants were screened through the nationwide Danish National Hospital Register. The average observation time was 30.3 years (range 27.3-30.4…

[Clinical characteristics and prognosis analysis of vitamin B6 responsive infantile spasms].

PubMed

Xue, Jiao; Yang, Zhixian; Wu, Ye; Xiong, Hui; Zhang, Yuehua; Liu, Xiaoyan

2016-02-01

To analyze clinical characteristics, treatment and prognosis in a cohort of children with vitamin B6 responsive infantile spasms. Ten patients were diagnosed as vitamin B6 responsive infantile spasms in Peking University First Hospital between January 2012 and May 2015.The clinical manifestations, diagnosis and treatment process, video-electroencephalogram, magnetic resonance imaging (MRI), epilepsy related genes and prognosis were retrospectively analyzed. Of the 10 patients, 5 were male, and 5 were female. Eight of them were normal at birth, and the other 2 patients had intracranial hemorrhage or anoxia.The age of epilepsy onset was from 3.5 to 8.0 months.All patients presented spasms primarily.Interictal electroencephalogram (EEG) showed hypsarrhythmia at seizures onset. MRI showed normal in 8 patients, and subarachnoid hemorrhage or multiple encephalomalacia foci after hemorrhage respectively in the other 2 patients. The results of blood biochemical, cerebrospinal fluid examination and urinary metabolic screening were negative. Epilepsy related genes including ALDH7A1 gene analysis showed wild type in all patients. Two patients were classified as symptomatic and eight might be idiopathic or cryptogenic. The initial dose of vitamin B6 was 10.0 mg/(kg·d). The interval between seizures onset and taking vitamin B6 was 0 to 4.0 months. Seizures disappeared completely within a week after administration of vitamin B6 in 9 patients and in 1.5 months in one patient.Of the 8 patients whose seizures were controlled completely during the follow-up period, 7 patients' EEG recovered within 1.5 to 4.0 months and then continued to be normal. The EEG of the rest of a patient returned to normal, but showed abnormal discharges after stopping taking vitamin B6. Two patients' EEG continued abnormal and seizures recurred due to vitamin B6 withdrawal. At the last follow-up, seizures were controlled in all patients. Drug treatment in one case had stopped. Vitamin B6 was used in 9

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

PubMed

Picker-Minh, Sylvie; Mignot, Cyril; Doummar, Diane; Hashem, Mais; Faqeih, Eissa; Josset, Patrice; Dubern, Béatrice; Alkuraya, Fowzan S; Kraemer, Nadine; Kaindl, Angela M

2016-04-29

Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the original report had multiple neurological symptoms such as postnatal microcephaly, intellectual disability, developmental delay, sensorineural deafness, cerebellar atrophy, ataxia, and peripheral neuropathy. In addition, distal muscle weakness and abnormalities of thyroid, pancreas, and liver were found. Here, we report five further IMNEPD patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation. We thereby hope to better define IMNEPD and promote recognition and diagnosis of this novel disease entity.

Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease.

PubMed

Johannsen, Jessika; Nickel, Miriam; Schulz, Angela; Denecke, Jonas

2016-06-01

Neuronal ceroid lipofuscinosis type 2 (CLN2 disease, OMIM 204500) is a rare autosomal-recessive lysosomal storage disorder. It is one of the most common neurodegenerative disorders in childhood. Symptoms include epilepsy, rapid motor and language regression, dementia, visual loss, and a complex movement disorder in later stages of the disease. We report on two children with genetically confirmed late-infantile CLN2 disease who developed a severe exacerbation of their complex movement disorder leading to hyperthermia, hyper-CK-emia and decreased level of consciousness over several weeks despite different therapeutic approaches. Both patients were on long-term antiepileptic treatment with valproate and only after the withdrawal of valproate, the movement disorder disappeared and level of consciousness improved. These observations emphasize that valproate has to be considered as a possible risk factor in patients in later stages of late-infantile CLN2 disease who develop a rapidly progressive complex movement disorder. Georg Thieme Verlag KG Stuttgart · New York.

Molecular and genetic insights into an infantile epileptic encephalopathy – CDKL5 disorder

PubMed Central

Zhou, Ailing; Han, Song

2017-01-01

Background The discovery that mutations in cyclin-dependent kinase-like 5 (CDKL5) gene are associated with infantile epileptic encephalopathy has stimulated world-wide research effort to understand the molecular and genetic basis of CDKL5 disorder. Given the large number of literature published thus far, this review aims to summarize current genetic studies, draw a consensus on proposed molecular functions, and point to gaps of knowledge in CDKL5 research. Methods A systematic review process was conducted using the PubMed search engine focusing on CDKL5 studies in the recent ten years. We analyzed these publications and summarized the findings into four sections: genetic studies, CDKL5 expression patterns, molecular functions, and animal models. We also discussed challenges and future directions in each section. Results On the clinical side, CDKL5 disorder is characterized by early onset epileptic seizures, intellectual disability, and stereotypical behaviors. On the research side, a series of molecular and genetic studies in human patients, cell cultures and animal models have established the causality of CDKL5 to the infantile epileptic encephalopathy, and pointed to a key role for CDKL5 in regulating neuronal function in the brain. Mouse models of CDKL5 disorder have also been developed, and notably, manifest behavioral phenotypes, mimicking numerous clinical symptoms of CDKL5 disorder and advancing CDKL5 research to the preclinical stage. Conclusions Given what we have learned thus far, future identification of robust, quantitative, and sensitive outcome measures would be the key in animal model studies, particularly in heterozygous females. In the meantime, molecular and cellular studies of CDKL5 should focus on mechanism-based investigation and aim to uncover druggable targets that offer the potential to rescue or ameliorate CDKL5 disorder-related phenotypes. PMID:28580010

The development of the trabecular meshwork and its abnormality in primary infantile glaucoma.

PubMed Central

Anderson, D R

1981-01-01

Tissue from ten eyes with infantile glaucoma and from 40 normal eyes of fetuses and infants without glaucoma were examined by light and electron microscopy. In normal development, the corneoscleral coat grows faster than the uveal tract during the last trimester, leading to a posterior migration of the ciliary body attachment from Schwalbe's line (5th month) to the scleral spur (9th month), and then to a location behind the scleral spur (postnatally). In infantile glaucoma, the insertion of the anterior ciliary body and iris overlaps the trabecular meshwork, similar to the late fetal position. The trabecular sheets are perforated, and there is no membrane over the surface of the trabecular meshwork. The trabecular beams are thicker than in normal infant eyes. There is both histologic and clinical evidence of traction on the iris root exerted by the thickened trabecular beams. These findings suggest that in congenital glaucoma the thickened beams had prevented the normal posterior migration of the ciliary body and iris root. This traction may compact the thickened trabecular beams, obstructing aqueous humor outflow. Release of the traction by an incision (goniotomy or trabeculotomy) of the thickened meshwork may relieve the obstruction. Of uncertain pathological significance is that there are no vacuoles in the endothelium of Schlemm's canal and there is a broad layer of collagen and amorphous material in the juxtacanalicular connective tissue. The ciliary processes are elongated inward, as if they were pulled by zonular traction (perhaps created by an enlarging diameter of the limbus with a fixed lens diameter). Images FIGURE 7 FIGURE 8 FIGURE 10 FIGURE 11 FIGURE 20 A FIGURE 20 B FIGURE 1 FIGURE 3 FIGURE 4 A FIGURE 4 B FIGURE 5 A FIGURE 5 B FIGURE 6 FIGURE 9 FIGURE 12 FIGURE 13 FIGURE 14 FIGURE 15 FIGURE 16 FIGURE 17 FIGURE 18 FIGURE 19 PMID:7342408

[Three infants with constipation and muscular weakness: infantile botulism].

PubMed

Thomasse, Y; Arends, J P; van der Heide, P A; Smit, L M E; van Weerden, T W; Fock, J M

2005-04-09

Two previously healthy infants, a boy of 10 weeks and a girl of 4 months presented with apathy and muscle weakness. A third previously healthy child, a girl of 6 weeks old was admitted with respiratory insufficiency. None of the three had had a bowel movement for a number of days. After extensive investigations which revealed few abnormalities Clostridium botulinum toxin was obtained in serum from all three children. Type-B-toxin was shown in the faeces of the older girl and boy; both recovered quickly. The other girl had type-A toxin; she died. Two of the three children were given honey to comfort them. Infantile botulism must be considered in every infant with symptoms of constipation and hypotonia. The diagnosis can quickly be confirmed by electromyography with repetitive 50-Hz-stimulation. Honey is a well-known source of the C. botulinum spore and should not be given to children under the age of 12 months. These three children are the first cases to be described in the Netherlands.

Exome Sequencing Is an Efficient Tool for Variant Late-Infantile Neuronal Ceroid Lipofuscinosis Molecular Diagnosis

PubMed Central

Ortega-Recalde, Oscar; Nallathambi, Jeyabalan; Anandula, Venkata Ramana; Renukaradhya, Umashankar; Laissue, Paul

2014-01-01

The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, which have been mainly defined regarding the clinical onset of symptoms. However, some patients cannot be easily included in a specific group because of significant variation in the age of onset and disease progression. Molecular genetics has emerged in recent years as a useful tool for enhancing NCL subtype classification. Fourteen NCL genetic forms (CLN1 to CLN14) have been described to date. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations. Despite advances in the diagnosis of neurodegenerative disorders mutations in these genes may cause similar phenotypes, which rends difficult accurate candidate gene selection for direct sequencing. Three siblings who were affected by variant late-infantile NCL are reported in the present study. We used whole-exome sequencing, direct sequencing and in silico approaches to identify the molecular basis of the disease. We identified the novel c.1219T>C (p.Trp407Arg) and c.1361T>C (p.Met454Thr) MFSD8 pathogenic mutations. Our results highlighted next generation sequencing as a novel and powerful methodological approach for the rapid determination of the molecular diagnosis of NCL. They also provide information regarding the phenotypic and molecular spectrum of CLN7 disease. PMID:25333361

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

PubMed

Patiño, Liliana Catherine; Battu, Rajani; Ortega-Recalde, Oscar; Nallathambi, Jeyabalan; Anandula, Venkata Ramana; Renukaradhya, Umashankar; Laissue, Paul

2014-01-01

The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, which have been mainly defined regarding the clinical onset of symptoms. However, some patients cannot be easily included in a specific group because of significant variation in the age of onset and disease progression. Molecular genetics has emerged in recent years as a useful tool for enhancing NCL subtype classification. Fourteen NCL genetic forms (CLN1 to CLN14) have been described to date. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations. Despite advances in the diagnosis of neurodegenerative disorders mutations in these genes may cause similar phenotypes, which rends difficult accurate candidate gene selection for direct sequencing. Three siblings who were affected by variant late-infantile NCL are reported in the present study. We used whole-exome sequencing, direct sequencing and in silico approaches to identify the molecular basis of the disease. We identified the novel c.1219T>C (p.Trp407Arg) and c.1361T>C (p.Met454Thr) MFSD8 pathogenic mutations. Our results highlighted next generation sequencing as a novel and powerful methodological approach for the rapid determination of the molecular diagnosis of NCL. They also provide information regarding the phenotypic and molecular spectrum of CLN7 disease.

Combining recessions (nystagmus and strabismus) with tenotomy improved visual function and decreased oscillopsia and diplopia in acquired downbeat nystagmus and in horizontal infantile nystagmus syndrome.

PubMed

Wang, Zhong I; Dell'Osso, Louis F; Tomsak, Robert L; Jacobs, Jonathan B

2007-04-01

To investigate the effects of combined tenotomy and recession procedures on both acquired downbeat nystagmus and horizontal infantile nystagmus. Patient 1 had downbeat nystagmus with a chin-down (upgaze) position, oscillopsia, strabismus, and diplopia. Asymmetric superior rectus recessions and inferior rectus tenotomies reduced right hypertropia and rotated both eyes downward. Patient 2 had horizontal infantile nystagmus, a 20 degrees left-eye exotropia, and alternating (abducting-eye) fixation. Lateral rectus recessions and medial rectus tenotomies were performed. Horizontal and vertical eye movements were recorded pre- and postsurgically using high-speed digital video. The eXpanded Nystagmus Acuity Function (NAFX) and nystagmus amplitudes and frequencies were measured. Patient 1: The NAFX peak moved from 10 degrees up to primary position where NAFX values improved 17% and visual acuity increased 25%. Vertical NAFX increased across the -10 degrees to +5 degrees vertical range. Primary-position right hypertropia decreased approximately 50%; foveation time per cycle increased 102%; vertical amplitude, oscillopsia, and diplopia were reduced, and frequency was unchanged. Patient 2: Two lateral, narrow high-NAFX regions (due to alternating fixation) became one broad region with a 43% increase in primary position (acuity increased approximately 92.3%). Diplopia amplitude decreased; convergence and gaze holding were improved. Primary-position right exotropia was reduced; foveation time per cycle increased 257%; horizontal-component amplitude decreased 45.7%, and frequency remained unchanged. Combining tenotomy with nystagmus or strabismus recession procedures increased NAFX and visual acuities and reduced diplopia and oscillopsia in downbeat nystagmus and infantile nystagmus.

Reading strategies in infantile nystagmus syndrome.

PubMed

Thomas, Mervyn G; Gottlob, Irene; McLean, Rebecca J; Maconachie, Gail; Kumar, Anil; Proudlock, Frank A

2011-10-17

The adaptive strategies adopted by individuals with infantile nystagmus syndrome (INS) during reading are not clearly understood. Eye movement recordings were used to identify ocular motor strategies used by patients with INS during reading. Eye movements were recorded at 500 Hz in 25 volunteers with INS and 7 controls when reading paragraphs of text centered at horizontal gaze angles of -20°, -10°, 0°, 10°, and 20°. At each location, reading speeds were measured, along with logMAR visual acuity and nystagmus during gaze-holding. Adaptive strategies were identified from slow and quick-phase patterns in the nystagmus waveform. Median reading speeds were 204.3 words per minute in individuals with INS and 273.6 words per minute in controls. Adaptive strategies included (1) suppression of corrective quick phases allowing involuntary slow phases to achieve the desired goal, (2) voluntarily changing the character of the involuntary slow phases using quick phases, and (3) correction of involuntary slow phases using quick phases. Several individuals with INS read more rapidly than healthy control volunteers. These findings demonstrate that volunteers with INS learn to manipulate their nystagmus using a range of strategies to acquire visual information from the text. These strategies include taking advantage of the stereotypical and periodic nature of involuntary eye movements to allow the involuntary eye movements to achieve the desired goal. The versatility of these adaptations yields reading speeds in those with nystagmus that are often much better than might be expected, given the degree of foveal and ocular motor deficits.

[Assessment of stress in childhood: Children's Daily Stress Inventory (Inventario Infantil de Estresores Cotidiano, IIEC)].

PubMed

Trianes Torres, María Victoria; Blanca Mena, María José; Fernández Baena, Francisco J; Escobar Espejo, Milagros; Maldonado Montero, Enrique F; Muñoz Sánchez, Angela María

2009-11-01

The present study introduces the Children's Daily Stress Inventory (Inventario Infantil de Estresores Cotidianos, IIEC) as a measure that assesses daily stress in primary school children. The inventory was applied to a sample of 1094 primary school students. The final version includes 25 dichotomic items covering the areas of health, school/peers, and family. The score is obtained by adding the total of positive answers. Analyses of items, reliability and several external pieces of evidence of validity based on relations with other variables are presented. The results show adequate psychometric properties for the assessment of daily stress in children.

Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report.

PubMed

Fukazawa, Mitsuharu; Tezuka, Junichiro; Sasazuki, Momoko; Masumoto, Natsuko; Baba, Haruhisa; Doi, Takehiko; Tsutsumi, Yasushi; Mizuno, Yuji; Mihara, Futoshi; Nakayama, Hideki

2018-02-01

Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit various presentations depending on their age at onset, such as infantile HPP combined with vitamin B6-responsive seizures. A newborn with infantile HPP presented with tonic convulsions from day 5 after birth and received intravenous vitamin B6 (10mg/kg/day pyridoxal phosphate). Eleven days later, frequent apneic episodes occurred, and head magnetic resonance imaging (MRI) showed bilateral reticular formation lesions in the brain stem, including the medulla oblongata. After the pyridoxal phosphate dose was increased (to 40mg/kg/day), the patient's seizures and apnea resolved, and her MRI findings also improved. Genetic testing revealed that she was homozygous for the 1559delT mutation of TNSALP. High-dose pyridoxal phosphate is a useful treatment for HPP-induced seizures and might improve reticular formation lesions. Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 -10p15.1 and 6q22.31 duplication.

PubMed

Jones, Kevin; Weiss, Shelly K; Minassian, Berge

2016-07-01

Patients presenting with infantile spasms, dysmorphic features, and periventricular nodular heterotopia may benefit from genetic copy number variation microarray, or whole-exome sequencing to identify candidate genes. This will allow personalized diagnosis and prognostication and the eventual understanding of single and combined gene functions in brain health and disease.

Infantile bisexuality and the 'complete oedipal complex': Freudian views on heterosexuality and homosexuality.

PubMed

Heenen-Wolff, Susann

2011-10-01

In the psychoanalytical discussion of what is 'mature' sexuality we speak of the 'genital' stage and the 'resolution' of the oedipal complex in the form of identification with the parent of the same sex and a heterosexually-directed object choice. A close reading of Freud's texts about sexuality shows that such a normative view cannot be corroborated by his viewpoint. He suggests that infantile sexuality is bisexually orientated, the final object choice due to repression of either homosexual or heterosexual desires. As Freud puts it, genital heterosexuality occurs out of necessity for procreation. In order to enrich the present psychoanalytical discussion about homosexuality and bisexuality the author returns to Freud's theories in this context. Copyright © 2011 Institute of Psychoanalysis.

Trace gas composition in the Asian summer monsoon anticyclone: a case study based on aircraft observations and model simulations

NASA Astrophysics Data System (ADS)

Gottschaldt, Klaus-D.; Schlager, Hans; Baumann, Robert; Bozem, Heiko; Eyring, Veronika; Hoor, Peter; Jöckel, Patrick; Jurkat, Tina; Voigt, Christiane; Zahn, Andreas; Ziereis, Helmut

2017-05-01

We present in situ measurements of the trace gas composition of the upper tropospheric (UT) Asian summer monsoon anticyclone (ASMA) performed with the High Altitude and Long Range Research Aircraft (HALO) in the frame of the Earth System Model Validation (ESMVal) campaign. Air masses with enhanced O3 mixing ratios were encountered after entering the ASMA at its southern edge at about 150 hPa on 18 September 2012. This is in contrast to the presumption that the anticyclone's interior is dominated by recently uplifted air with low O3 in the monsoon season. We also observed enhanced CO and HCl in the ASMA, which are tracers for boundary layer pollution and tropopause layer (TL) air or stratospheric in-mixing respectively. In addition, reactive nitrogen was enhanced in the ASMA. Along the HALO flight track across the ASMA boundary, strong gradients of these tracers separate anticyclonic from outside air. Lagrangian trajectory calculations using HYSPLIT show that HALO sampled a filament of UT air three times, which included air masses uplifted from the lower or mid-troposphere north of the Bay of Bengal. The trace gas gradients between UT and uplifted air masses were preserved during transport within a belt of streamlines fringing the central part of the anticyclone (fringe), but are smaller than the gradients across the ASMA boundary. Our data represent the first in situ observations across the southern part and downstream of the eastern ASMA flank. Back-trajectories starting at the flight track furthermore indicate that HALO transected the ASMA where it was just splitting into a Tibetan and an Iranian part. The O3-rich filament is diverted from the fringe towards the interior of the original anticyclone, and is at least partially bound to become part of the new Iranian eddy. A simulation with the ECHAM/MESSy Atmospheric Chemistry (EMAC) model is found to reproduce the observations reasonably well. It shows that O3-rich air is entrained by the outer streamlines of the

78 FR 56744 - Notice of Permit Applications Received Under the Antarctic Conservation Act of 1978 (Pub. L. 95-541)

Federal Register 2010, 2011, 2012, 2013, 2014

2013-09-13

... (ASMA 7). All materials collected would be salvaged; the applicant would not interact with live animals... birds and mammals. Location ASPA 149 Cape Shireff and ASMA 7 Southwest Anvers Island (Palmer Station...

[Therapeutic intervention in infantile autism and generalized developmental disorders: self-injury and self-stimulation].

PubMed

Rodríguez-Abellán, J

1999-02-01

In this article we present a review of the aetiology and treatment of self-injury and self-stimulation in infantile autism and in generalized development disorders. We summarize 20 years of study and investigation in the treatment of these serious behaviour disorders, in a pioneer institution in Spain: the centre for rehabilitation 'El Cau' in Castellon. We describe the most frequent behaviour disorders, with particular reference to self-injury and self-stimulatory behaviour. Models explaining the aetiology and treatment are described in a brief general review of the subject, and we consider explicative models which integrate different treatments (in family and institutional contexts) by means of family therapy, psychoeducational models and social support networks.

Information on infantile colic on the World Wide Web.

PubMed

Bailey, Shana D; D'Auria, Jennifer P; Haushalter, Jamie P

2013-01-01

The purpose of this study was to explore and describe the type and quality of information on infantile colic that a parent might access on the World Wide Web. Two checklists were used to evaluate the quality indicators of 24 Web sites and the colic-specific content. Fifteen health information Web sites met more of the quality parameters than the nine commercial sites. Eight Web sites included information about colic and infant abuse, with six being health information sites. The colic-specific content on 24 Web sites reflected current issues and controversies; however, the completeness of the information in light of current evidence varied among the Web sites. Strategies to avoid complications of parental stress or infant abuse were not commonly found on the Web sites. Pediatric professionals must guide parents to reliable colic resources that also include emotional support and understanding of infant crying. A best evidence guideline for the United States would eliminate confusion and uncertainty about which colic therapies are safe and effective for parents and professionals. Copyright © 2013 National Association of Pediatric Nurse Practitioners. Published by Mosby, Inc. All rights reserved.

E-learning enables parents to assess an infantile hemangioma.

PubMed

de Graaf, Marlies; Knol, Mirjam J; Totté, Joan E E; van Os-Medendorp, Harmieke; Breugem, Corstiaan C; Pasmans, Suzanne G M A

2014-05-01

Infantile hemangiomas (IH) at risk for complications need to be recognized early. We sought to determine if parents are able to assess, after e-learning, whether their child has an IH, is at risk for complications, and needs to be seen (urgently) by a specialist. This was a prospective study of 158 parents participating in an IH e-learning module. Parents were asked to assess their child's skin abnormality. A dermatologist answered the same questions (by e-consult). The 2 assessments were compared. Parents showed a 96% concordance with the dermatologist for correct diagnosis after e-learning. Concordances were 79%, 75%, and 84% (P < .001), respectively, on assessing the risk of complications, the need to be seen by a specialist, and the urgency for specialized care. Parents had a relatively high education level and were therefore not representative of the general population. Parents were able to correctly diagnose and evaluate an IH after completing an e-learning module. E-learning by parents could result in earlier presentation and treatment of high-risk IH. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

CDKL5 variant in a boy with infantile epileptic encephalopathy: case report.

PubMed

Wong, Virginia Chun-Nei; Kwong, Anna Ka-Yee

2015-04-01

A Chinese boy presented at 18 months with intractable epilepsy, developmental delay and autistic features. He had multiple seizure types, including absence, myoclonic seizures, limb spasm and tonic seizures. His seizures were finally controlled at 3 years of age with clonazepam and a short course of chloral hydrate incidentally given for his insomnia. Subsequently, he had improvement in his communication skills. A novel hemizygous missense variant (c.1649G>A; p.R550Q) in exon 12 of CDKL5 gene was detected for him, his asymptomatic mother and elder sister. His phenotype is less severe than other male cases. We recommend screening CDKL5 for boys with pharmarco-resistant epilepsy and a trial of benzodiazepines for Infantile Epileptic Encephalopathy (IEE). Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Physical Therapy for a Child With Infantile Idiopathic Scoliosis and Motor Delay.

PubMed

Hall, Rhea K; Rapport, Mary Jane

2017-07-01

The purpose of this case report is to describe physical therapy (PT) for a child with infantile idiopathic scoliosis and motor delay. A 10-month-old boy with a 28° left thoracolumbar scoliosis was referred for PT and was seen weekly in his home over a 6-month period following a diagnosis of scoliosis and delayed gross motor milestones. Before the initiation of PT, the child was scheduled to undergo serial casting for correction of the spinal curve and was not yet rolling or transitioning in or out of sitting. By the end of the 6-month intervention period, the spinal curve had resolved to 12° without the need for serial casting and the child was walking independently. PT appeared to have a positive effect on reduction of the spinal curve and achievement of gross motor milestones.

[Neuropsychological studies of the gnostic processes in children with various forms of infantile cerebral palsy].

PubMed

Mamaĭchuk, I I

1992-01-01

Psychometric and neuropsychological studies were carried out in 182 patients with three forms of infantile cerebral paralysis (ICP). Of these, 112 children presented with spastic diplegia, 50 with hemiparetic diplegia, and 20 with hyperkinetic diplegia. The children's age ranged from 8 to 14 years. Depending on the form of ICP, the structural characteristics of intellect were defined as were specific features of the development of higher cortical functions depending on the localization of the underdevelopment of different brain areas. The classification of the structure of the disorders with the aid of the methods used makes it possible to have a differentiated approach to the medical and pedagogical correction of those patients.

The yield of laboratory investigations in children with infantile autism.

PubMed

Kosinovsky, B; Hermon, S; Yoran-Hegesh, R; Golomb, A; Senecky, Y; Goez, H; Kramer, U

2005-04-01

To evaluate the yield of laboratory investigations in infantile autism. We retrieved and evaluated the results of investigative procedures recorded in the medical files of autistic infants in four child developmental centers and two pediatric psychiatric outpatient clinics. One-hundred and thirty-two infants were included in the study of whom 47 (36%) underwent autistic regression at an average age of 20 months. The investigative procedures included electroencephalogram (n = 132), neuroimaging (n = 70), genetic studies to detect Fragile-X (n = 59) and a metabolic workup (n = 53). Except for the molecular diagnosis that revealed Fragile-X syndrome in two children (3%), all other tests were negative. The two infants with the Fragile-X syndrome belonged to the non-regressive group. The only investigative study that contributed to the diagnosis of autistic infants was the molecular diagnosis detecting Fragile-X. In spite of the high frequency of epilepsy and epileptiform abnormalities in the electroencephalograms of autistic children in general, the contribution of epilepsy, both clinical and subclinical, to the etiology of autism is apparently minimal.

Characterizing infantile hemangiomas with a near-infrared spectroscopic handheld wireless device

NASA Astrophysics Data System (ADS)

Fong, Christopher J.; Hoi, Jennifer W.; Kim, Hyun K.; Behr, Gerald; Geller, Lauren; Antonov, Nina; Flexman, Molly; Garzon, Maria; Hielscher, Andreas H.

2015-03-01

Infantile hemangiomas (IH) are common vascular growths that occur in 5-10% of neonates and have the potential to cause disfiguring and even life-threatening complications. Currently, no objective tool exist to monitor either progression or treatment of IH. To address this unmet clinical need, we have developed a handheld wireless device (HWD) that uses diffuse optical spectroscopy for the assessment of IH. The system employs 4 wavelengths (l=780nm, 805nm, 850nm, and 905nm) and 6 source-detector pairs with distances between 0.6 and 20 mm. Placed on the skin surface, backreflection data is obtained and a multispectral evolution algorithm is used to determine total hemoglobin concentration and tissue oxygen saturation. First results of an ongoing pilot study involving 13 patients (average enrollment age = 25 months) suggest that an increase in hypoxic stress over time can lead to the proliferation of IH. Involuting IH lesions showed an increase in tissue oxygen saturation as well as a decrease in total hemoglobin.

The Use of Cryotherapy to Treat Infantile Digital Fibromatosis with a Functional Deficit: A Case Report.

PubMed

Kramer, Aviv; Har-Shai, Yaron; Metanes, Isa; Harel, Hani; Wollstein, Ronit

2018-06-01

Infantile Digital Fibromatosis (IDF) is a rare benign lesion that can affect the fingers, often appearing at birth or early on in life. Treatment is controversial due to a high recurrence rate following surgical excision, and the tendency of the lesions to regress or resolve completely after the age of one year. Functional loss has rarely been described. We describe a case of IDF with joint contracture and significant functional deficit that was treated with cryotherapy and post procedural occupational therapy with an excellent result. Indications for treatment and cryotherapy as a therapeutic modality for IDF are discussed.

Evaluation of open-label topiramate as primary or adjunctive therapy in infantile spasms.

PubMed

Zou, Li-Ping; Lin, Qing; Qin, Jiong; Cai, Fang-Cheng; Liu, Zhi-Sheng; Mix, Eilhard

2008-01-01

A multicenter open-label clinical trial was conducted to evaluate the clinical usefulness of topiramate (TPM) as primary or adjunctive therapy for infantile spasms in the postmarketing period in China. Thirty-four centers participated in the trial. Patients included in the study had 1 or more seizures per day before treatment. One hundred twenty (22.1%) very young patients with an age younger than 6 month and 64.2% of patients were younger than 1 year at start of treatment. All patients received a starting dose of 0.5 to 1 mg kg d TPM twice daily. The dosage was increased by 0.5 to 1 mg kg d every 5 to 7 days up to 3 to 5 mg kg d. The resulting range of the total TPM dosage was 25 to 200 mg d (3.57-20 mg kg d), with a median value of 73.9 mg d. Seizure outcomes were measured by intention-to-treat analysis. Patients were seen by a neurologist, and their data were evaluated at the day of inclusion and after 4, 8, 12, 16, and 20 weeks (from visit 1 to visit 5) of treatment. Five hundred forty-four patients entered the study. After 20 weeks of TPM treatment, 239 patients (43.9%) were seizure-free. A higher proportion of patients in the monotherapy group than in the add-on therapy group showed a seizure rate reduction. An increase in seizure frequency was observed in 8 patients (1.5%) during the 20-week treatment period. Nineteen patients were withdrawn before completing the study, and in 46 cases, some data of the structured data files and questionnaires were missing. No efficacy of TPM treatment was recorded in these cases. Adverse effects occurred in 211 patients (38.8%). Most frequent side effects were anorexia and somnolence. Topiramate proved to be an effective and safe monotherapy and add-on therapy in patients with infantile spasms younger than 1 year.

Infantile hemangioma-like vascular lesion in a 26-year-old woman after abortion.

PubMed

Lu, Yang; Wang, Shu Jun; Li, Xin; Hu, Li; Zhang, Wen Jie; Li, Wei

2014-01-01

A 26-year-old woman (G2P1A1) presented with a 5-week history of multiple red marks on her body after a therapeutic abortion. A physical examination found 15 palpable red marks on her head, neck, chest, arms and legs. Proliferating endothelial cells, which expressed CD31, CD34, von Willebrand factor, but not Glut-1 and merosin, were observed in the lesional area by histopathological analyses. Histocompatibility antigen typing of 2 lesions was identical to a sample from peripheral blood. Accelerated regression was observed in 2 lesions treated by intralesional injection of betamethasone, while spontaneous regression was observed within 9 months in the remaining lesions without any treatment. Rapid growth, spontaneous regression and histological analyses in this case support the diagnosis of 'infantile hemangioma-like vascular lesion'.

An investigation into the relationship between vigabatrin, movement disorders, and brain magnetic resonance imaging abnormalities in children with infantile spasms.

PubMed

Fong, Choong Yi; Osborne, John P; Edwards, Stuart W; Hemingway, Cheryl; Hancock, Eleanor; Johnson, Anthony L; Kennedy, Colin R; Kneen, Rachel; Likeman, Marcus; Lux, Andrew L; Mordekar, Santosh R; Murugan, Velayutham; Newton, Richard W; Pike, Michael; Quinn, Michael; Spinty, Stefan; Vassallo, Grace; Verity, Christopher M; Whitney, Andrea; O'Callaghan, Finbar J K

2013-09-01

We aimed to investigate the relationship between movement disorders, changes on brain magnetic resonance imaging (MRI), and vigabatrin therapy in children with infantile spasms. Retrospective review and brain MRI analysis of children enrolled in the International Collaborative Infantile Spasms Study (ICISS) who developed a movement disorder on vigabatrin therapy. Comparisons were made with controls within ICISS who had no movement disorder. Ten of 124 infants had a movement disorder and in eight it had developed on vigabatrin therapy. Two had a movement disorder that resolved on dose-reduction of vigabatrin, one had improvement on withdrawing vigabatrin, two had resolution without any dose change, and in three it persisted despite vigabatrin withdrawal. The typical brain MRI changes associated with vigabatrin therapy were noted in two infants. Ten control infants were identified. Typical MRI changes noted with vigabatrin were noted in three controls. It is possible that in two out of eight cases, vigabatrin was associated with the development of a movement disorder. In six out of eight cases a causal relationship was less plausible. The majority of infants treated with vigabatrin did not develop a movement disorder. MRI changes associated with vigabatrin do not appear to be specifically related to the movement disorder. © 2013 Mac Keith Press.

Lactobacillus reuteri (American Type Culture Collection Strain 55730) versus simethicone in the treatment of infantile colic: a prospective randomized study.

PubMed

Savino, Francesco; Pelle, Emanuela; Palumeri, Elisabetta; Oggero, Roberto; Miniero, Roberto

2007-01-01

The goal was to test the hypothesis that oral administration of Lactobacillus reuteri in a prospective randomized study would improve symptoms of infantile colic. Ninety breastfed colicky infants were assigned randomly to receive either the probiotic L. reuteri (10(8) live bacteria per day) or simethicone (60 mg/day) each day for 28 days. The mothers avoided cow's milk in their diet. Parents monitored daily crying times and adverse effects by using a questionnaire. Eighty-three infants completed the trial: 41 in the probiotic group and 42 in the simethicone group. The infants were similar regarding gestational age, birth weight, gender, and crying time at baseline. Daily median crying times in the probiotic and simethicone groups were 159 minutes/day and 177 minutes/day, respectively, on the seventh day and 51 minutes/day and 145 minutes/day on the 28th day. On day 28, 39 patients (95%) were responders in the probiotic group and 3 patients (7%) were responders in the simethicone group. No adverse effects were reported. In our cohort, L. reuteri improved colicky symptoms in breastfed infants within 1 week of treatment, compared with simethicone, which suggests that probiotics may have a role in the treatment of infantile colic.

Growth of binary organic NLO crystals: m.NA-p.NA and m.NA-CNA system

NASA Technical Reports Server (NTRS)

Singh, N. B.; Henningsen, T.; Hopkins, R. H.; Mazelsky, R.

1993-01-01

Experiments were carried out to grow 3.Nitroaniline (m.NA) crystals doped with 4.Nitroaniline (p.NA) and 2.chloro 4.Nitroaniline (CNA). The measured undercooling for m.NA, p.NA, and CNA were 0.21 tm K, 0.23 tm K, and 0.35 tm K respectively, where tm represents the melting temperature of the pure component. Because of the crystals' large heat of fusion and large undercooling, it was not possible to grow good quality crystals with low thermal gradients. In the conventional two-zone Bridgman furnace we had to raise the temperature of the hot zone above the decomposition temperature of CNA, p.NA, and m.NA to achieve the desired thermal gradient. To avoid decomposition, we used an unconventional Bridgman furnace. Two immiscible liquids, silicone oil and ethylene glycol, were used to build a special two-zone Bridgman furnace. A temperature gradient of 18 K/cm was achieved without exceeding the decomposition temperature of the crystal. The binary crystals, m.NA-p.NA and m.NA-CNA, were grown in centimeter size in this furnace. X-ray and optical characterization showed good optical quality.

Phenotypes of asthma in low-income children and adolescents: cluster analysis.

PubMed

Cabral, Anna Lucia Barros; Sousa, Andrey Wirgues; Mendes, Felipe Augusto Rodrigues; Carvalho, Celso Ricardo Fernandes de

2017-01-01

objetivo foi determinar como crianças e adolescentes asmáticas de baixa renda no Brasil são distribuídos através de uma análise de clusters. Foram incluídos 306 crianças e adolescentes (6-18 anos de idade) com diagnóstico clínico de asma e sob tratamento médico por pelo menos um ano de acompanhamento. No momento da inclusão, todos os pacientes estavam clinicamente estáveis. Vinte variáveis comumente determinadas na prática clínica e consideradas importantes na definição dos fenótipos de asma foram selecionadas para a análise de clusters. As variáveis com alta multicolinearidade foram excluídas. Uma análise de clusters foi realizada utilizando-se um teste aglomerativo em duas etapas e log-likelihood distance measure. Três clusters foram definidos para nossa população. O cluster 1 (n = 94) incluiu indivíduos com função pulmonar normal, inflamação eosinofílica leve, poucas exacerbações, início mais tardio da asma e atopia leve. O cluster 2 (n = 87) incluiu pacientes com função pulmonar normal, número moderado de exacerbações, início precoce da asma, inflamação eosinofílica mais grave e atopia moderada. O cluster 3 (n = 108) incluiu pacientes com função pulmonar ruim, exacerbações frequentes, inflamação eosinofílica e atopia graves. A asma foi caracterizada por presença de atopia, número de exacerbações e função pulmonar em crianças e adolescentes de baixa renda no Brasil. As muitas semelhanças entre esta e outras análises de clusters de fenótipos indicam que essa abordagem apresenta boa generalização.

Thermal decomposition of sodium amide, NaNH2, and sodium amide hydroxide composites, NaNH2-NaOH.

PubMed

Jepsen, Lars H; Wang, Peikun; Wu, Guotao; Xiong, Zhitao; Besenbacher, Flemming; Chen, Ping; Jensen, Torben R

2016-09-14

Sodium amide, NaNH 2 , has recently been shown to be a useful catalyst to decompose NH 3 into H 2 and N 2 , however, sodium hydroxide is omnipresent and commercially available NaNH 2 usually contains impurities of NaOH (<2%). The thermal decomposition of NaNH 2 and NaNH 2 -NaOH composites is systematically investigated and discussed. NaNH 2 is partially dissolved in NaOH at T > 100 °C, forming a non-stoichiometric solid solution of Na(OH) 1-x (NH 2 ) x (0 < x < ∼0.30), which crystallizes in an orthorhombic unit cell with the space group P2 1 2 1 2 1 determined by synchrotron powder X-ray diffraction. The composite xNaNH 2 -(1 - x)NaOH (∼0.70 < x < 0.72) shows a lowered melting point, ∼160 °C, compared to 200 and 318 °C for neat NaNH 2 and NaOH, respectively. We report that 0.36 mol of NH 3 per mol of NaNH 2 is released below 400 °C during heating in an argon atmosphere, initiated at its melting point, T = 200 °C, possibly due to the formation of the mixed sodium amide imide solid solution. Furthermore, NaOH reacts with NaNH 2 at elevated temperatures and provides the release of additional NH 3 .

The impact of asthma in Brazil: a longitudinal analysis of data from a Brazilian national database system.

PubMed

Cardoso, Thiago de Araujo; Roncada, Cristian; Silva, Emerson Rodrigues da; Pinto, Leonardo Araujo; Jones, Marcus Herbert; Stein, Renato Tetelbon; Pitrez, Paulo Márcio

2017-01-01

To present official longitudinal data on the impact of asthma in Brazil between 2008 and 2013. This was a descriptive study of data collected between 2008 and 2013 from an official Brazilian national database, including data on asthma-related number of hospitalizations, mortality, and hospitalization costs. A geographical subanalysis was also performed. In 2013, 2,047 people died from asthma in Brazil (5 deaths/day), with more than 120,000 asthma-related hospitalizations. During the whole study period, the absolute number of asthma-related deaths and of hospitalizations decreased by 10% and 36%, respectively. However, the in-hospital mortality rate increased by approximately 25% in that period. The geographic subanalysis showed that the northern/northeastern and southeastern regions had the highest asthma-related hospitalization and in-hospital mortality rates, respectively. An analysis of the states representative of the regions of Brazil revealed discrepancies between the numbers of asthma-related hospitalizations and asthma-related in-hospital mortality rates. During the study period, the cost of asthma-related hospitalizations to the public health care system was US$ 170 million. Although the numbers of asthma-related deaths and hospital admissions in Brazil have been decreasing since 2009, the absolute numbers are still high, resulting in elevated direct and indirect costs for the society. This shows the relevance of the burden of asthma in middle-income countries. Apresentar dados longitudinais oficiais sobre o impacto da asma no Brasil entre 2008 e 2013. Estudo descritivo de dados extraídos de um banco de dados do governo brasileiro entre 2008 e 2013, no qual foram analisados as hospitalizações e óbitos por asma, bem como o custo das hospitalizações. Foi também realizada uma subanálise geográfica. Em 2013, 2.047 pessoas morreram de asma no Brasil (5 óbitos/dia), com mais de 120.000 hospitalizações por asma. Durante o período de estudo, o n

Condition of Si crystal formation by vaporizing Na from NaSi

NASA Astrophysics Data System (ADS)

Morito, Haruhiko; Karahashi, Taiki; Yamane, Hisanori

2012-09-01

NaSi was heated at various Na vapor pressures (pNa 0.1-1.2 atm) and temperatures (973-1173 K) to investigate the condition of Si crystal formation from NaSi by Na evaporation. Silicon single crystals 1-3 mm in diameter were grown by evaporation of Na from Na-Si melt at 1173 K and pNa=0.74 atm.

Dynamics and Composition of the Asian Summer Monsoon Anticyclone

NASA Astrophysics Data System (ADS)

Gottschaldt, K. D.; Schlager, H.; Baumann, R.; Bozem, H.; Cai, D. S.; Eyring, V.; Hoor, P. M.; Graf, P.; Joeckel, P.; Jurkat, T.; Voigt, C.; Grewe, V.; Zahn, A.; Ziereis, H.

2017-12-01

This study places trace gas observations in the upper-tropospheric Asian summer monsoon anticyclone (ASMA) obtained with the HALO research aircraft during the ESMVal campaign into the context of regional, intra-annual variability by hindcasts with the EMAC model. The simulations demonstrate that tropospheric trace gas profiles in the monsoon season are distinct from the rest of the year. Air uplifted from the lower troposphere to the tropopause layer dominates the eastern part of the ASMA's interior, while the western part is characterized by subsidence down to the mid-troposphere. Soluble compounds are being washed out when uplifted by convection in the eastern part, where lightning simultaneously replenishes reactive nitrogen in the upper troposphere. Net photochemical ozone production is significantly enhanced in the ASMA, contrasted by an ozone depleting regime in the mid-troposphere and more neutral conditions in autumn and winter. An analysis of multiple monsoon seasons in the simulation shows that stratospherically influenced tropopause layer air is regularly entrained at the eastern ASMA flank, and then transported in the southern fringe around the interior region. Observed and simulated tracer-tracer relations reflect photochemical O3 production, as well as in-mixing from the lower troposphere and the tropopause layer. The simulation additionally shows entrainment of clean air from the equatorial region by northerly winds at the western ASMA flank. Although the in situ measurements were performed towards the end of summer, the main ingredients needed for their interpretation are present throughout the monsoon season.Subseasonal dynamical instabilities of the ASMA effectively overcome horizontal transport barriers, occur quite frequently, and are of paramount importance for the trace gas composition of the ASMA and its outflow into regions around the world.

Encephalopathy in an infant with infantile spasms: possible role of valproate toxicity

PubMed Central

Sivathanu, Shobhana; Sampath, Sowmya; Veerasamy, Madhubala; Sunderkumar, Satheeshkumar

2014-01-01

An infant presented with global developmental delay and infantile spasms. EEG was suggestive of hypsarrhythmia. She was started on sodium valproate, clonazepam and adrenocorticotropic hormone injection. After an initial improvement the child developed vomiting, altered sensorium and increase in frequency of seizures suggestive of encephalopathy. Valproate-induced hyperammonaemia or hepatic encephalopathy was considered and the drug was withheld following which there was a dramatic improvement. Paradoxically, the liver function tests and serum ammonia were normal. However, a complete reversal of encephalopathy, on withdrawal of the drug, strongly suggested an adverse drug reaction (ADR) due to valproic acid. Marginal elevation of serum valproic acid prompted us to use the Naranjo ADR probability score to confirm the diagnosis. This case highlights the fact that valproate toxicity can manifest with normal liver function and serum ammonia levels. This is the youngest reported case with this rare form of valproate-induced encephalopathy. PMID:24810446

Sodium iron hexacyanoferrate with high Na content as a Na-rich cathode material for Na-ion batteries

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

You, Ya; Yu, Xi -Qian; Yin, Ya -Xia

Owing to the worldwide abundance and low-cost of Na, room-temperature Na-ion batteries are emerging as attractive energy storage systems for large-scale grids. Increasing the Na content in cathode material is one of the effective ways to achieve high energy density. Prussian blue and its analogues (PBAs) are promising Na-rich cathode materials since they can theoretically store two Na ions per formula. However, increasing the Na content in PBAs cathode materials is a big challenge in the current. Here we show that sodium iron hexacyanoferrate with high Na content could be obtained by simply controlling the reducing agent and reaction atmospheremore » during synthesis. The Na content can reach as high as 1.63 per formula, which is the highest value for sodium iron hexacyanoferrate. This Na-rich sodium iron hexacyanoferrate demonstrates a high specific capacity of 150 mA h g -1 and remarkable cycling performance with 90% capacity retention after 200 cycles. Furthermore, the Na intercalation/de-intercalation mechanism is systematically studied by in situ Raman, X-ray diffraction and X-ray absorption spectroscopy analysis for the first time. As a result, the Na-rich sodium iron hexacyanoferrate could function as a plenteous Na reservoir and has great potential as a cathode material toward practical Na-ion batteries.« less

Sodium iron hexacyanoferrate with high Na content as a Na-rich cathode material for Na-ion batteries

DOE PAGES

You, Ya; Yu, Xi -Qian; Yin, Ya -Xia; ...

2014-10-27

Owing to the worldwide abundance and low-cost of Na, room-temperature Na-ion batteries are emerging as attractive energy storage systems for large-scale grids. Increasing the Na content in cathode material is one of the effective ways to achieve high energy density. Prussian blue and its analogues (PBAs) are promising Na-rich cathode materials since they can theoretically store two Na ions per formula. However, increasing the Na content in PBAs cathode materials is a big challenge in the current. Here we show that sodium iron hexacyanoferrate with high Na content could be obtained by simply controlling the reducing agent and reaction atmospheremore » during synthesis. The Na content can reach as high as 1.63 per formula, which is the highest value for sodium iron hexacyanoferrate. This Na-rich sodium iron hexacyanoferrate demonstrates a high specific capacity of 150 mA h g -1 and remarkable cycling performance with 90% capacity retention after 200 cycles. Furthermore, the Na intercalation/de-intercalation mechanism is systematically studied by in situ Raman, X-ray diffraction and X-ray absorption spectroscopy analysis for the first time. As a result, the Na-rich sodium iron hexacyanoferrate could function as a plenteous Na reservoir and has great potential as a cathode material toward practical Na-ion batteries.« less

Infantile nystagmus adapts to visual demand.

PubMed

Wiggins, Debbie; Woodhouse, J Margaret; Margrain, Tom H; Harris, Christopher M; Erichsen, Jonathan T

2007-05-01

To determine the effect of visual demand on the nystagmus waveform. Individuals with infantile nystagmus syndrome (INS) commonly report that making an effort to see can intensify their nystagmus and adversely affect vision. However, such an effect has never been confirmed experimentally. The eye movement behavior of 11 subjects with INS were recorded at different gaze angles while the subjects viewed visual targets under two conditions: above and then at resolution threshold. Eye movements were recorded by infrared oculography and visual acuity (VA) was measured using Landolt C targets and a two-alternative, forced-choice (2AFC) staircase procedure. Eye movement data were analyzed at the null zone for changes in amplitude, frequency, intensity, and foveation characteristics. Waveform type was also noted under the two conditions. Data from 11 subjects revealed a significant reduction in nystagmus amplitude (P < 0.05), frequency (P < 0.05), and intensity (P < 0.01) when target size was at visual threshold. The percentage of time the eye spent within the low-velocity window (i.e., foveation) significantly increased when target size was at visual threshold (P < 0.05). Furthermore, a change in waveform type with increased visual demand was exhibited by two subjects. The results indicate that increased visual demand modifies the nystagmus waveform favorably (and possibly adaptively), producing a significant reduction in nystagmus intensity and prolonged foveation. These findings contradict previous anecdotal reports that visual effort intensifies the nystagmus eye movement at the cost of visual performance. This discrepancy may be attributable to the lack of psychological stress involved in the visual task reported here. This is consistent with the suggestion that it is the visual importance of the task to the individual rather than visual demand per se which exacerbates INS. Further studies are needed to investigate quantitatively the effects of stress and psychological

Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES).

PubMed

Pardo, Carlos A; Nabbout, Rima; Galanopoulou, Aristea S

2014-04-01

The mechanisms of epileptogenesis in pediatric epileptic syndromes are diverse, and may involve disturbances of neurodevelopmental trajectories, synaptic homeostasis, and cortical connectivity, which may occur during brain development, early infancy, or childhood. Although genetic or structural/metabolic factors are frequently associated with age-specific epileptic syndromes, such as infantile spasms and West syndrome, other syndromes may be determined by the effect of immunopathogenic mechanisms or energy-dependent processes in response to environmental challenges, such as infections or fever in normally-developed children during early or late childhood. Immune-mediated mechanisms have been suggested in selected pediatric epileptic syndromes in which acute and rapidly progressive encephalopathies preceded by fever and/or infections, such as febrile infection-related epilepsy syndrome, or in chronic progressive encephalopathies, such as Rasmussen encephalitis. A definite involvement of adaptive and innate immune mechanisms driven by cytotoxic CD8(+) T lymphocytes and neuroglial responses has been demonstrated in Rasmussen encephalitis, although the triggering factor of these responses remains unknown. Although the beneficial response to steroids and adrenocorticotropic hormone of infantile spasms, or preceding fever or infection in FIRES, may support a potential role of neuroinflammation as pathogenic factor, no definite demonstration of such involvement has been achieved, and genetic or metabolic factors are suspected. A major challenge for the future is discovering pathogenic mechanisms and etiological factors that facilitate the introduction of novel targets for drug intervention aimed at interfering with the disease mechanisms, therefore providing putative disease-modifying treatments in these pediatric epileptic syndromes.

Compensatory regulation of Na+ absorption by Na+/H+ exchanger and Na+-Cl- cotransporter in zebrafish (Danio rerio)

PubMed Central

2013-01-01

Introduction In mammals, internal Na+ homeostasis is maintained through Na+ reabsorption via a variety of Na+ transport proteins with mutually compensating functions, which are expressed in different segments of the nephrons. In zebrafish, Na+ homeostasis is achieved mainly through the skin/gill ionocytes, namely Na+/H+ exchanger (NHE3b)-expressing H+-ATPase rich (HR) cells and Na+-Cl- cotransporter (NCC)-expressing NCC cells, which are functionally homologous to mammalian proximal and distal convoluted tubular cells, respectively. The present study aimed to investigate whether or not the functions of HR and NCC ionocytes are differentially regulated to compensate for disruptions of internal Na+ homeostasis and if the cell differentiation of the ionocytes is involved in this regulation pathway. Results Translational knockdown of ncc caused an increase in HR cell number and a resulting augmentation of Na+ uptake in zebrafish larvae, while NHE3b loss-of-function caused an increase in NCC cell number with a concomitant recovery of Na+ absorption. Environmental acid stress suppressed nhe3b expression in HR cells and decreased Na+ content, which was followed by up-regulation of NCC cells accompanied by recovery of Na+ content. Moreover, knockdown of ncc resulted in a significant decrease of Na+ content in acid-acclimated zebrafish. Conclusions These results provide evidence that HR and NCC cells exhibit functional redundancy in Na+ absorption, similar to the regulatory mechanisms in mammalian kidney, and suggest this functional redundancy is a critical strategy used by zebrafish to survive in a harsh environment that disturbs body fluid Na+ homeostasis. PMID:23924428

Outcomes of Infantile-Onset Glaucoma Associated With Port Wine Birthmarks and Other Periocular Cutaneous Vascular Malformation.

PubMed

Reyes-Capó, Daniela; Cavuoto, Kara M; Chang, Ta C

2018-01-01

The incidence of infantile-onset secondary glaucoma associated with periocular cutaneous vascular malformations is high and the outcomes of these glaucomatous eyes have anecdotally been poor. The purpose of this study was to determine the anatomic and visual outcomes of affected eyes. Retrospective case series. Consecutive patients with early-onset (younger than 36 months of age) glaucoma associated with cutaneous vascular malformations from 1995‒2015 were included. Seventeen eyes of 13 patients with Sturge-Weber syndrome (SW, n = 10), Klippel-Trenaunay-Weber syndrome (KTW, n = 1), cutis marmorata telangiectatica congenita (CMTC, n = 1), and phakomatosis pigmentovascularis (PPV, n = 1) were included. Three SW and 1 KTW patient had bilateral glaucoma. At presentation, mean age was 6.5 ± 9.1 months and mean intraocular pressure was 27.2 ± 6.13 mm Hg. The average number of surgical procedures per eye increased from 1.0 ± 0.5 (range, 0‒2) at less than 5 years' follow-up (9 eyes) to 3.5 ± 2.3 (range, 1‒7) with at least 5 years' follow-up (8 eyes). Visual acuity was better than or equal to 20/70 in 2 of 6 eyes (33%) with less than 5 years' follow-up and in 3 of 7 eyes (43%) with at least 5 years' follow-up. Additionally, a higher number of baseline risk factors correlated with poorer visual outcome. After a mean follow-up of 6.6 years, visual outcome in infantile-onset secondary glaucoma associated with cutaneous periocular vascular malformation is guarded. Increased numbers of baseline risk factors and procedures are associated with poorer vision. Copyright 2017 Asia-Pacific Academy of Ophthalmology.

Infantile urinary tract infection and timing of micturating cystourethrogram.

PubMed

Soccorso, Giampiero; Moss, Gail; Roberts, Julian; Godbole, Prasad

2010-12-01

The investigation of infantile febrile urinary tract infection (UTI) is still a subject of debate and controversy. To evaluate for vesicoureteric reflux (VUR) most authorities recommend a micturating cystourethrogram (MCUG) to be performed at least 4 weeks after UTI to avoid false positive. At a tertiary centre for paediatric specialities, information on 427 infants who had undergone MCUG following a first febrile UTI was prospectively recorded and their case notes reviewed. The infants were divided into two groups: Group A (117) with MCUG performed less than 4 weeks from UTI diagnosis and Group B (310) with MCUG after at least 8 weeks from diagnosis. Of the 427 children, VUR was detected in 33% of those for whom MCUG was performed less than 4 weeks after UTI diagnosis and in 24% of those for whom it was performed at least 8 weeks after diagnosis. Neither the prevalence nor the grade of VUR in infants with a first episode of UTI is influenced by the timing of the MCUG following diagnosis. We therefore suggest that it is better to perform an MCUG as soon as possible, provided inflammation has subsided. Copyright © 2010 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Hydrogen-fluorine exchange in NaBH4-NaBF4.

PubMed

Rude, L H; Filsø, U; D'Anna, V; Spyratou, A; Richter, B; Hino, S; Zavorotynska, O; Baricco, M; Sørby, M H; Hauback, B C; Hagemann, H; Besenbacher, F; Skibsted, J; Jensen, T R

2013-11-07

Hydrogen-fluorine exchange in the NaBH4-NaBF4 system is investigated using a range of experimental methods combined with DFT calculations and a possible mechanism for the reactions is proposed. Fluorine substitution is observed using in situ synchrotron radiation powder X-ray diffraction (SR-PXD) as a new Rock salt type compound with idealized composition NaBF2H2 in the temperature range T = 200 to 215 °C. Combined use of solid-state (19)F MAS NMR, FT-IR and DFT calculations supports the formation of a BF2H2(-) complex ion, reproducing the observation of a (19)F chemical shift at -144.2 ppm, which is different from that of NaBF4 at -159.2 ppm, along with the new absorption bands observed in the IR spectra. After further heating, the fluorine substituted compound becomes X-ray amorphous and decomposes to NaF at ~310 °C. This work shows that fluorine-substituted borohydrides tend to decompose to more stable compounds, e.g. NaF and BF3 or amorphous products such as closo-boranes, e.g. Na2B12H12. The NaBH4-NaBF4 composite decomposes at lower temperatures (300 °C) compared to NaBH4 (476 °C), as observed by thermogravimetric analysis. NaBH4-NaBF4 (1:0.5) preserves 30% of the hydrogen storage capacity after three hydrogen release and uptake cycles compared to 8% for NaBH4 as measured using Sievert's method under identical conditions, but more than 50% using prolonged hydrogen absorption time. The reversible hydrogen storage capacity tends to decrease possibly due to the formation of NaF and Na2B12H12. On the other hand, the additive sodium fluoride appears to facilitate hydrogen uptake, prevent foaming, phase segregation and loss of material from the sample container for samples of NaBH4-NaF.

Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.

PubMed

He, Yunjuan; Ji, Xing; Yan, Hui; Ye, Xiantao; Liu, Yu; Wei, Wei; Xiao, Bing; Sun, Yu

2018-06-20

Biallelic UNC80 mutations cause infantile hypotonia with psychomotor retardation and characteristic facies 2 (IHPRF2), which is characterized by hypotonia, developmental delay (DD)/intellectual disability (ID), intrauterine growth retardation, postnatal growth retardation and characteristic facial features. We report two unrelated Chinese patients with compound heterozygous UNC80 mutations inherited from their parents, as identified by whole-exome sequencing (WES). Mutations c.3719G>A (p.W1240*)/c.4926_4937del (p.N1643_L1646del) and c.4963C>T (p.R1655C)/c.8385C>G (p.Y2795*) were identified in patient 1 and patient 2, respectively. Although both patients presented with DD/ID and hypotonia, different manifestations also occurred. Patient 1 presented with infantile hypotonia, epilepsy and hyperactivity without growth retardation, whereas patient 2 presented with persistent hypotonia, growth retardation and self-injury without epilepsy. Furthermore, we herein summarize the genotypes and phenotypes of patients with UNC80 mutations reported in the literature, revealing that IHPRF2 is a phenotypically heterogeneous disease. Common facial dysmorphisms include a thin upper lip, a tented upper lip, a triangular face, strabismus and microcephaly. To some extent, the manifestations of IHPRF2 mimic those of Angelman syndrome (AS)-like syndromes. Copyright © 2018 Elsevier B.V. All rights reserved.

Propranolol in Treatment of Huge and Complicated Infantile Hemangiomas in Egyptian Children

PubMed Central

Hassan, Basheir A.; Shreef, Khalid S.

2014-01-01

Background. Infantile hemangiomas (IHs) are the most common benign tumours of infancy. Propranolol has recently been reported to be a highly effective treatment for IHs. This study aimed to evaluate the efficacy and side effects of propranolol for treatment of complicated cases of IHs. Patients and Methods. This prospective clinical study included 30 children with huge or complicated IHs; their ages ranged from 2 months to 1 year. They were treated by oral propranolol. Treatment outcomes were clinically evaluated. Results. Superficial cutaneous hemangiomas began to respond to propranolol therapy within one to two weeks after the onset of treatment. The mean treatment period that was needed for the occurrence of complete resolution was 9.4 months. Treatment with propranolol was well tolerated and had few side effects. No rebound growth of the tumors was noted when propranolol dosing stopped except in one case. Conclusion. Propranolol is a promising treatment for IHs without obvious side effects. However, further studies with longer follow-up periods are needed. PMID:24899888

Propranolol in treatment of huge and complicated infantile hemangiomas in egyptian children.

PubMed

Hassan, Basheir A; Shreef, Khalid S

2014-01-01

Background. Infantile hemangiomas (IHs) are the most common benign tumours of infancy. Propranolol has recently been reported to be a highly effective treatment for IHs. This study aimed to evaluate the efficacy and side effects of propranolol for treatment of complicated cases of IHs. Patients and Methods. This prospective clinical study included 30 children with huge or complicated IHs; their ages ranged from 2 months to 1 year. They were treated by oral propranolol. Treatment outcomes were clinically evaluated. Results. Superficial cutaneous hemangiomas began to respond to propranolol therapy within one to two weeks after the onset of treatment. The mean treatment period that was needed for the occurrence of complete resolution was 9.4 months. Treatment with propranolol was well tolerated and had few side effects. No rebound growth of the tumors was noted when propranolol dosing stopped except in one case. Conclusion. Propranolol is a promising treatment for IHs without obvious side effects. However, further studies with longer follow-up periods are needed.

Child Development: New Diagnoses for the NANDA International.

PubMed

Souza, Juliana Martins de; Cruz, Diná de Almeida Lopes Monteiro da; Veríssimo, Maria De La Ó Ramallo

2018-04-01

The paper proposes new diagnoses on child development (CD) for NANDA International. The study followed the recommended steps of Developmental Processes for NANDA International Nursing Diagnoses. It was a secondary analysis study on the findings of a concept analysis study on CD. A proposal of labels and components of three diagnoses: "Delayed child development," "Risk for delayed child development," and "Readiness for enhanced child development." The proposed diagnoses represent all the complexity of CD. The proposed diagnoses can support nurses in the development of a comprehensive care plan on the health of children. OBJETIVO: propor novos diagnósticos de enfermagem para a NANDA-International que abordem o desenvolvimento infantil. MÉTODO: Este estudo seguiu as etapas recomendadas para o desenvolvimento de diagnósticos de enfermagem da NANDA-International. Foi realizado a partir dos resultados da análise de conceito do termo desenvolvimento infantil. Propostos os títulos e os componentes de três diagnósticos: "Atraso no desenvolvimento infantil," "Risco de atraso no desenvolvimento infantil," e "Disposição para desenvolvimento infantil melhorado." CONCLUSÕES: Os diagnósticos propostos contemplam toda a complexidade do desenvolvimento infantil. IMPLICAÇÕES PARA A PRÁTICA DE ENFERMAGEM: Os novos diagnósticos podem subsidiar o enfermeiro na elaboração de um plano de cuidados integrais à saúde da criança. © 2016 NANDA International, Inc.

Educational interventions to improve inhaler techniques and their impact on asthma and COPD control: a pilot effectiveness-implementation trial.

PubMed

Maricoto, Tiago; Madanelo, Sofia; Rodrigues, Luís; Teixeira, Gilberto; Valente, Carla; Andrade, Lília; Saraiva, Alcina

2016-01-01

To assess the impact that educational interventions to improve inhaler techniques have on the clinical and functional control of asthma and COPD, we evaluated 44 participants before and after such an intervention. There was a significant decrease in the number of errors, and 20 patients (46%) significantly improved their technique regarding prior exhalation and breath hold. In the asthma group, there were significant improvements in the mean FEV1, FVC, and PEF (of 6.4%, 8.6%, and 8.3% respectively). Those improvements were accompanied by improvements in Control of Allergic Rhinitis and Asthma Test scores but not in Asthma Control Test scores. In the COPD group, there were no significant variations. In asthma patients, educational interventions appear to improve inhaler technique, clinical control, and functional control. RESUMO Para avaliar o impacto do ensino da técnica inalatória no controle clínico e funcional de pacientes com asma ou DPOC, incluíram-se 44 participantes antes e após essa intervenção. Houve uma diminuição significativa no número de erros cometidos, sendo que 20 pacientes (46%) melhoraram significativamente sua técnica na expiração prévia e apneia final. No grupo asma, houve significativa melhora nas médias de FEV1 (6,4%), CVF (8,6%) e PFE (8,3%), e essa melhora correlacionou-se com os resultados no Control of Allergic Rhinitis and Asthma Test, mas não com os do Asthma Control Test. No grupo DPOC, não houve variações significativas. O ensino da técnica inalatória parece melhorar seu desempenho e os controles clínico e funcional em pacientes com asma.

Na/K pump inactivation, subsarcolemmal Na measurements, and cytoplasmic ion turnover kinetics contradict restricted Na spaces in murine cardiac myocytes

PubMed Central

Lu, Fang-Min

2017-01-01

Decades ago, it was proposed that Na transport in cardiac myocytes is modulated by large changes in cytoplasmic Na concentration within restricted subsarcolemmal spaces. Here, we probe this hypothesis for Na/K pumps by generating constitutive transsarcolemmal Na flux with the Na channel opener veratridine in whole-cell patch-clamp recordings. Using 25 mM Na in the patch pipette, pump currents decay strongly during continuous activation by extracellular K (τ, ∼2 s). In contradiction to depletion hypotheses, the decay becomes stronger when pump currents are decreased by hyperpolarization. Na channel currents are nearly unchanged by pump activity in these conditions, and conversely, continuous Na currents up to 0.5 nA in magnitude have negligible effects on pump currents. These outcomes are even more pronounced using 50 mM Li as a cytoplasmic Na congener. Thus, the Na/K pump current decay reflects mostly an inactivation mechanism that immobilizes Na/K pump charge movements, not cytoplasmic Na depletion. When channel currents are increased beyond 1 nA, models with unrestricted subsarcolemmal diffusion accurately predict current decay (τ ∼15 s) and reversal potential shifts observed for Na, Li, and K currents through Na channels opened by veratridine, as well as for Na, K, Cs, Li, and Cl currents recorded in nystatin-permeabilized myocytes. Ion concentrations in the pipette tip (i.e., access conductance) track without appreciable delay the current changes caused by sarcolemmal ion flux. Importantly, cytoplasmic mixing volumes, calculated from current decay kinetics, increase and decrease as expected with osmolarity changes (τ >30 s). Na/K pump current run-down over 20 min reflects a failure of pumps to recover from inactivation. Simulations reveal that pump inactivation coupled with Na-activated recovery enhances the rapidity and effectivity of Na homeostasis in cardiac myocytes. In conclusion, an autoregulatory mechanism enhances cardiac Na/K pump activity when

Infantile developmental thoracolumbar kyphosis with segmental subluxation of the spine: report of five patients and review of the literature.

PubMed

Ganesan, S; Karampalis, C; Garrido, E; Tsirikos, A I

2015-07-01

Acute angulation at the thoracolumbar junction with segmental subluxation of the spine occurring at the level above an anteriorly hypoplastic vertebra in otherwise normal children is a rare condition described as infantile developmental thoracolumbar kyphosis. Three patient series with total of 18 children have been reported in the literature. We report five children who presented with thoracolumbar kyphosis and discuss the treatment algorithm. We reviewed the medical records and spinal imaging at initial clinical presentation and at minimum two-year follow-up. The mean age at presentation was eight months (two to 12). All five children had L2 anterior vertebral body hypoplasia. The kyphosis improved spontaneously in three children kept under monitoring. In contrast, the deformity was progressive in two patients who were treated with bracing. The kyphosis and segmental subluxation corrected at latest follow-up (mean age 52 months; 48 to 60) in all patients with near complete reconstitution of the anomalous vertebra. The deformity and radiological imaging on a young child can cause anxiety to both parents and treating physicians. Diagnostic workup and treatment algorithm in the management of infantile developmental thoracolumbar kyphosis is proposed. Observation is indicated for non-progressive kyphosis and bracing if there is evidence of kyphosis and segmental subluxation deterioration beyond walking age. Surgical stabilisation of the spine can be reserved for severe progressive deformities unresponsive to conservative treatment. ©2015 The British Editorial Society of Bone & Joint Surgery.

The effectiveness of massage therapy in the treatment of infantile colic symptoms: A randomized controlled trial.

PubMed

Sheidaei, Ali; Abadi, Alireza; Zayeri, Farid; Nahidi, Fatemeh; Gazerani, Nafiseh; Mansouri, Anita

2016-01-01

Infantile colic, cry-fuss and sleep problems are transient in the initial months of life, but they contribute to maternal depression, parenting stress and family mental health problems. In this randomized clinical trial, we aimed to explore the efficacy of massage therapy compared to rocking in reducing infantile colic symptoms including duration and number of cries, sleep duration and severity of infant colic. This was a single blind RCT study with a one-week follow-up. One hundred colicky infants aged younger than 12 weeks old were randomly assigned into massage and rocking groups. Infants in the massage group received a massage for 15-20 minutes once during a day and once at night before sleeping for a week. In the control group, mothers rocked their infants gently for 5-25 minutes when the symptoms of colic appeared. Parents recorded the details of the colic symptoms in a diary every day. A GEE approach was applied to explore the effect of the intervention. Efficiency of massage therapy was significantly higher than rocking. At the end of the study, the mean number of daily cries was 4.26±1.40 in the massage and 6.9±2.14 the rocking groups (p<0.01). The mean of the severity score was 1.39±0.19 less in the massage group (p<0.01). Moreover, the mean differences of massage and rocking groups were -0.82±0.20 hour (p<0.01) and 0.72±0.35 (p= 0.04) in the duration of cries and duration of sleep, respectively. Massaging significantly improved colic symptoms during a one-week intervention for all outcomes. In addition, significant differences were found between the intervention and control groups in favor of massaging. Therefore, massage therapy is more effective than rocking for treating infant colic symptoms.

[The Laboratório de Biologia Infantil, 1935-1941: from forensic medicine to social assistance].

PubMed

Silva, Renato da

2011-12-01

This analysis of the history of the Laboratório de Biologia Infantil (Children's Biology Laboratory) discusses topics related to childhood and adolescence published in the Arquivos de Medicina Legal e Identificação do Rio de Janeiro. It underscores the political-institutional and intellectual contexts that prompted the 1930s debate about childhood among physicians, teachers, educators, and politicians, with a special focus on Leonídio Ribeiro, founder and first editor of the journal. The Laboratório inaugurated a medical and scientific routine for studying, treating, and providing assistance within institutions that had been created to repress, care for, and cure, and as such it represented an important chapter in the history of so-called abandoned and delinquent childhood.

Na+/Ca2+ exchange and Na+/K+-ATPase in the heart

PubMed Central

Shattock, Michael J; Ottolia, Michela; Bers, Donald M; Blaustein, Mordecai P; Boguslavskyi, Andrii; Bossuyt, Julie; Bridge, John H B; Chen-Izu, Ye; Clancy, Colleen E; Edwards, Andrew; Goldhaber, Joshua; Kaplan, Jack; Lingrel, Jerry B; Pavlovic, Davor; Philipson, Kenneth; Sipido, Karin R; Xie, Zi-Jian

2015-01-01

This paper is the third in a series of reviews published in this issue resulting from the University of California Davis Cardiovascular Symposium 2014: Systems approach to understanding cardiac excitation–contraction coupling and arrhythmias: Na+ channel and Na+ transport. The goal of the symposium was to bring together experts in the field to discuss points of consensus and controversy on the topic of sodium in the heart. The present review focuses on cardiac Na+/Ca2+ exchange (NCX) and Na+/K+-ATPase (NKA). While the relevance of Ca2+ homeostasis in cardiac function has been extensively investigated, the role of Na+ regulation in shaping heart function is often overlooked. Small changes in the cytoplasmic Na+ content have multiple effects on the heart by influencing intracellular Ca2+ and pH levels thereby modulating heart contractility. Therefore it is essential for heart cells to maintain Na+ homeostasis. Among the proteins that accomplish this task are the Na+/Ca2+ exchanger (NCX) and the Na+/K+ pump (NKA). By transporting three Na+ ions into the cytoplasm in exchange for one Ca2+ moved out, NCX is one of the main Na+ influx mechanisms in cardiomyocytes. Acting in the opposite direction, NKA moves Na+ ions from the cytoplasm to the extracellular space against their gradient by utilizing the energy released from ATP hydrolysis. A fine balance between these two processes controls the net amount of intracellular Na+ and aberrations in either of these two systems can have a large impact on cardiac contractility. Due to the relevant role of these two proteins in Na+ homeostasis, the emphasis of this review is on recent developments regarding the cardiac Na+/Ca2+ exchanger (NCX1) and Na+/K+ pump and the controversies that still persist in the field. PMID:25772291

Sesión clínica de los NIH de tumores del estroma gastrointestinal (TEGI) infantiles y de tipo natural | Center for Cancer Research

Cancer.gov

Fecha de la sesión: Del 20 al 22 de junio de 2018 Esta solicitud es el primero de un proceso de varios pasos para considerar su participación en nuestra próxima sesión clínica de TEGI infantiles y de tipo natural. Por favor, lea las tres páginas y responda completamente todas las preguntas:

Idiopathic infantile arterial calcification: a rare cause of sudden unexpected death in childhood.

PubMed

Guimarães, Susana; Lopes, José Manuel; Oliveira, José Bessa; Santos, Agostinho

2010-07-27

Unexpected child death investigation is a difficult area of forensic practice in view of the wide range of possible genetic, congenital, and acquired natural and nonnatural causes. Idiopathic infantile arterial calcification (IIAC) is a rare autosomic recessive disease usually diagnosed postmortem. Inactivating mutations of the ENPP1 gene were described in 80% of the cases with IIAC. We report a case of a 5-year-old girl submitted to a forensic autopsy due to sudden death and possible medical negligence/parents child abuse. Major alterations found (intimal proliferation and deposition of calcium hydroxyapatite around the internal elastic lamina and media of arteries; acute myocardial infarct, stenotic and calcified coronary artery; perivascular and interstitial myocardial fibrosis; and subendocardial fibroelastosis) were diagnostic of IIAC. We reviewed IIAC cases published in the English literature and highlight the importance of adequate autopsy evaluation in cases of sudden child death.

Idiopathic Infantile Arterial Calcification: A Rare Cause of Sudden Unexpected Death in Childhood

PubMed Central

Guimarães, Susana; Lopes, José Manuel; Oliveira, José Bessa; Santos, Agostinho

2010-01-01

Unexpected child death investigation is a difficult area of forensic practice in view of the wide range of possible genetic, congenital, and acquired natural and nonnatural causes. Idiopathic infantile arterial calcification (IIAC) is a rare autosomic recessive disease usually diagnosed postmortem. Inactivating mutations of the ENPP1 gene were described in 80% of the cases with IIAC. We report a case of a 5-year-old girl submitted to a forensic autopsy due to sudden death and possible medical negligence/parents child abuse. Major alterations found (intimal proliferation and deposition of calcium hydroxyapatite around the internal elastic lamina and media of arteries; acute myocardial infarct, stenotic and calcified coronary artery; perivascular and interstitial myocardial fibrosis; and subendocardial fibroelastosis) were diagnostic of IIAC. We reviewed IIAC cases published in the English literature and highlight the importance of adequate autopsy evaluation in cases of sudden child death. PMID:21151691

Reducing quality-of-care disparities in childhood asthma: La Red de Asma Infantil intervention in San Juan, Puerto Rico.

PubMed

Lara, Marielena; Ramos-Valencia, Gilberto; González-Gavillán, Jesús A; López-Malpica, Fernando; Morales-Reyes, Beatriz; Marín, Heriberto; Rodríguez-Sánchez, Mario H; Mitchell, Herman

2013-03-01

Although children living in Puerto Rico have the highest asthma prevalence of all US children, little is known regarding the quality-of-care disparities they experience nor the adaptability of existing asthma evidence-based interventions to reduce these disparities. The objective of this study was to describe our experience in reducing quality-of-care disparities among Puerto Rican children with asthma by adapting 2 existing evidence-based asthma interventions. We describe our experience in adapting and implementing 2 previously tested asthma evidence-based interventions: the Yes We Can program and the Inner-City Asthma Study intervention. We assessed the feasibility of combining key components of the 2 interventions to reduce asthma symptoms and estimated the potential cost savings associated with reductions in asthma-related hospitalizations and emergency department visits. A total of 117 children with moderate and severe asthma participated in the 12-month intervention in 2 housing projects in San Juan, Puerto Rico. A community-academic team with the necessary technical and cultural competences adapted and implemented the intervention. Our case study revealed the feasibility of implementing the combined intervention, henceforth referred to as La Red intervention, in the selected Puerto Rican communities experiencing a disproportionately high level of asthma burden. After 1-year follow-up, La Red intervention significantly reduced asthma symptoms and exceeded reductions of the original interventions. Asthma-related hospitalizations and emergency department use, and their associated high costs, were also significantly reduced. Asthma evidence-based interventions can be adapted to improve quality of care for children with asthma in a different cultural community setting.

Postoperative glaucoma following infantile cataract surgery: an individual patient data meta-analysis.

PubMed

Mataftsi, Asimina; Haidich, Anna-Bettina; Kokkali, Stamatia; Rabiah, Peter K; Birch, Eileen; Stager, David R; Cheong-Leen, Richard; Singh, Vineet; Egbert, James E; Astle, William F; Lambert, Scott R; Amitabh, Purohit; Khan, Arif O; Grigg, John; Arvanitidou, Malamatenia; Dimitrakos, Stavros A; Nischal, Ken K

2014-09-01

Infantile cataract surgery bears a significant risk for postoperative glaucoma, and no consensus exists on factors that may reduce this risk. To assess the effect of primary intraocular lens implantation and timing of surgery on the incidence of postoperative glaucoma. We searched multiple databases to July 14, 2013, to identify studies with eligible patients, including PubMed, MEDLINE, EMBASE, ISI Web of Science, Scopus, Central, Google Scholar, Intute, and Tripdata. We also searched abstracts of ophthalmology society meetings. We included studies reporting on postoperative glaucoma in infants undergoing cataract surgery with regular follow-up for at least 1 year. Infants with concurrent ocular anomalies were excluded. Authors of eligible studies were invited to contribute individual patient data on infants who met the inclusion criteria. We also performed an aggregate data meta-analysis of published studies that did not contribute to the individual patient data. Data were pooled using a random-effects model. Time to glaucoma with the effect of primary implantation, additional postoperative intraocular procedures, and age at surgery. Seven centers contributed individual patient data on 470 infants with a median age at surgery of 3.0 months and median follow-up of 6.0 years. Eighty patients (17.0%) developed glaucoma at a median follow-up of 4.3 years. Only 2 of these patients had a pseudophakic eye. The risk for postoperative glaucoma appeared to be lower after primary implantation (hazard ratio [HR], 0.10 [95% CI, 0.01-0.70]; P = .02; I(2) = 34%), higher after surgery at 4 weeks or younger (HR, 2.10 [95% CI, 1.14-3.84]; P = .02; I(2) = 0%), and higher after additional procedures (HR, 2.52 [95% CI, 1.11-5.72]; P = .03; I(2) = 32%). In multivariable analysis, additional procedures independently increased the risk for glaucoma (HR, 2.25 [95% CI, 1.20-4.21]; P = .01), and primary implantation independently reduced it (HR, 0.10 [95% CI, 0.01-0.76]; P =�

Simultaneous transcatheter closure of intralobar pulmonary sequestration and patent ductus arteriosus in a patient with infantile Scimitar syndrome.

PubMed

Aslan, Eyüp; Tanıdır, İbrahim Cansaran; Saygı, Murat; Onan, Sertaç Hanedan; Güzeltaş, Alper

2015-03-01

Scimitar syndrome is a rare disease associated with a right lung sequestration vascularised by arteries arising from the abdominal aorta and abnormal venous drainage into the inferior vena cava. The infantile form is generally presented with severe heart failure, pulmonary hypertension and respiratory distress. It may be associated with various intracardiac defects, including atrial septal defects, ventricular septal defects, patent ductus arteriosus or more complicated structural congenital heart defects. Here, we present a 2-month-old girl with Scimitar syndrome whose pulmonary arterial pressure decreased after transcatheter patent ductus arteriosus closure and embolization of the anomalous systemic arterial supply.

PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.

PubMed

Fruscione, Floriana; Valente, Pierluigi; Sterlini, Bruno; Romei, Alessandra; Baldassari, Simona; Fadda, Manuela; Prestigio, Cosimo; Giansante, Giorgia; Sartorelli, Jacopo; Rossi, Pia; Rubio, Alicia; Gambardella, Antonio; Nieus, Thierry; Broccoli, Vania; Fassio, Anna; Baldelli, Pietro; Corradi, Anna; Zara, Federico; Benfenati, Fabio

2018-04-01

See Lerche (doi:10.1093/brain/awy073) for a scientific commentary on this article.Proline-rich transmembrane protein 2 (PRRT2) is the causative gene for a heterogeneous group of familial paroxysmal neurological disorders that include seizures with onset in the first year of life (benign familial infantile seizures), paroxysmal kinesigenic dyskinesia or a combination of both. Most of the PRRT2 mutations are loss-of-function leading to haploinsufficiency and 80% of the patients carry the same frameshift mutation (c.649dupC; p.Arg217Profs*8), which leads to a premature stop codon. To model the disease and dissect the physiological role of PRRT2, we studied the phenotype of neurons differentiated from induced pluripotent stem cells from previously described heterozygous and homozygous siblings carrying the c.649dupC mutation. Single-cell patch-clamp experiments on induced pluripotent stem cell-derived neurons from homozygous patients showed increased Na+ currents that were fully rescued by expression of wild-type PRRT2. Closely similar electrophysiological features were observed in primary neurons obtained from the recently characterized PRRT2 knockout mouse. This phenotype was associated with an increased length of the axon initial segment and with markedly augmented spontaneous and evoked firing and bursting activities evaluated, at the network level, by multi-electrode array electrophysiology. Using HEK-293 cells stably expressing Nav channel subtypes, we demonstrated that the expression of PRRT2 decreases the membrane exposure and Na+ current of Nav1.2/Nav1.6, but not Nav1.1, channels. Moreover, PRRT2 directly interacted with Nav1.2/Nav1.6 channels and induced a negative shift in the voltage-dependence of inactivation and a slow-down in the recovery from inactivation. In addition, by co-immunoprecipitation assays, we showed that the PRRT2-Nav interaction also occurs in brain tissue. The study demonstrates that the lack of PRRT2 leads to a hyperactivity of voltage

PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity

PubMed Central

Fruscione, Floriana; Valente, Pierluigi; Sterlini, Bruno; Romei, Alessandra; Baldassari, Simona; Fadda, Manuela; Prestigio, Cosimo; Giansante, Giorgia; Sartorelli, Jacopo; Rossi, Pia; Rubio, Alicia; Gambardella, Antonio; Nieus, Thierry; Broccoli, Vania; Fassio, Anna; Baldelli, Pietro; Corradi, Anna; Zara, Federico

2018-01-01

Abstract See Lerche (doi:10.1093/brain/awy073) for a scientific commentary on this article. Proline-rich transmembrane protein 2 (PRRT2) is the causative gene for a heterogeneous group of familial paroxysmal neurological disorders that include seizures with onset in the first year of life (benign familial infantile seizures), paroxysmal kinesigenic dyskinesia or a combination of both. Most of the PRRT2 mutations are loss-of-function leading to haploinsufficiency and 80% of the patients carry the same frameshift mutation (c.649dupC; p.Arg217Profs*8), which leads to a premature stop codon. To model the disease and dissect the physiological role of PRRT2, we studied the phenotype of neurons differentiated from induced pluripotent stem cells from previously described heterozygous and homozygous siblings carrying the c.649dupC mutation. Single-cell patch-clamp experiments on induced pluripotent stem cell-derived neurons from homozygous patients showed increased Na+ currents that were fully rescued by expression of wild-type PRRT2. Closely similar electrophysiological features were observed in primary neurons obtained from the recently characterized PRRT2 knockout mouse. This phenotype was associated with an increased length of the axon initial segment and with markedly augmented spontaneous and evoked firing and bursting activities evaluated, at the network level, by multi-electrode array electrophysiology. Using HEK-293 cells stably expressing Nav channel subtypes, we demonstrated that the expression of PRRT2 decreases the membrane exposure and Na+ current of Nav1.2/Nav1.6, but not Nav1.1, channels. Moreover, PRRT2 directly interacted with Nav1.2/Nav1.6 channels and induced a negative shift in the voltage-dependence of inactivation and a slow-down in the recovery from inactivation. In addition, by co-immunoprecipitation assays, we showed that the PRRT2-Nav interaction also occurs in brain tissue. The study demonstrates that the lack of PRRT2 leads to a hyperactivity of

Suborbital commercial spaceflight crewmember medical issues.

PubMed

2011-04-01

As directed by the Council of the Aerospace Medical Association, the Commercial Spaceflight Working Group has developed the following position paper concerning medical issues for commercial suborbital spaceflight crewmembers. This position paper has been approved by the AsMA Council to become a policy of the AsMA.

Hypothesis: is infantile autism a hypoglutamatergic disorder? Relevance of glutamate - serotonin interactions for pharmacotherapy.

PubMed

Carlsson, M L

1998-01-01

Based on 1) neuroanatomical and neuroimaging studies indicating aberrations in brain regions that are rich in glutamate neurons and 2) similarities between symptoms produced by N-methyl-D-aspartate (NMDA) antagonists in healthy subjects and those seen in autism, it is proposed in the present paper that infantile autism is a hypoglutamatergic disorder. Possible future pharmacological interventions in autism are discussed in the light of the intimate interplay between central glutamate and serotonin, notably the serotonin (5-HT) 2A receptor. The possible benefit of treatment with glutamate agonists [e.g. agents acting on the modulatory glycine site of the NMDA receptor, or so-called ampakines acting on the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor] is discussed, as well as the potential usefulness of a selective 5-HT2A receptor antagonist.

Oculomotor Neurocircuitry, a Structural Connectivity Study of Infantile Nystagmus Syndrome

PubMed Central

Kashou, Nasser H.; Zampini, Angelica R.

2015-01-01

Infantile Nystagmus Syndrome (INS) is one of the leading causes of significant vision loss in children and affects about 1 in 1000 to 6000 births. In the present study, we are the first to investigate the structural pathways of patients and controls using diffusion tensor imaging (DTI). Specifically, three female INS patients from the same family were scanned, two sisters and a mother. Six regions of interest (ROIs) were created manually to analyze the number of tracks. Additionally, three ROI masks were analyzed using TBSS (Tract-Based Spatial Statistics). The number of fiber tracks was reduced in INS subjects, compared to normal subjects, by 15.9%, 13.9%, 9.2%, 18.6%, 5.3%, and 2.5% for the pons, cerebellum (right and left), brainstem, cerebrum, and thalamus. Furthermore, TBSS results indicated that the fractional anisotropy (FA) values for the patients were lower in the superior ventral aspects of the pons of the brainstem than in those of the controls. We have identified some brain regions that may be actively involved in INS. These novel findings would be beneficial to the neuroimaging clinical and research community as they will give them new direction in further pursuing neurological studies related to oculomotor function and provide a rational approach to studying INS. PMID:25860806

Dynamics and composition of the Asian summer monsoon anticyclone

NASA Astrophysics Data System (ADS)

Gottschaldt, Klaus-Dirk; Schlager, Hans; Baumann, Robert; Sinh Cai, Duy; Eyring, Veronika; Graf, Phoebe; Grewe, Volker; Jöckel, Patrick; Jurkat-Witschas, Tina; Voigt, Christiane; Zahn, Andreas; Ziereis, Helmut

2018-04-01

This study places HALO research aircraft observations in the upper-tropospheric Asian summer monsoon anticyclone (ASMA) into the context of regional, intra-annual variability by hindcasts with the ECHAM/MESSy Atmospheric Chemistry (EMAC) model. The observations were obtained during the Earth System Model Validation (ESMVal) campaign in September 2012. Observed and simulated tracer-tracer relations reflect photochemical O3 production as well as in-mixing from the lower troposphere and the tropopause layer. The simulations demonstrate that tropospheric trace gas profiles in the monsoon season are distinct from those in the rest of the year, and the measurements reflect the main processes acting throughout the monsoon season. Net photochemical O3 production is significantly enhanced in the ASMA, where uplifted precursors meet increased NOx, mainly produced by lightning. An analysis of multiple monsoon seasons in the simulation shows that stratospherically influenced tropopause layer air is regularly entrained at the eastern ASMA flank and then transported in the southern fringe around the interior region. Radial transport barriers of the circulation are effectively overcome by subseasonal dynamical instabilities of the anticyclone, which occur quite frequently and are of paramount importance for the trace gas composition of the ASMA. Both the isentropic entrainment of O3-rich air and the photochemical conversion of uplifted O3-poor air tend to increase O3 in the ASMA outflow.

Using health games for rehabilitation of patients with infantile cerebral palsy.

PubMed

Lee, Wan-Chen; Reyes-Fernández, Miriam C; Posada-Gómez, Rubén; Juárez-Martínez, Ulises; Martínez-Sibaja, Albino; Alor-Hernández, Giner

2016-08-01

[Purpose] The purposes of this study were to evaluate whether the therapeutic games developed by the study team are significantly effective for upper limb rehabilitation of patients with cerebral palsy and to assess the development of the games and the evolution of patients throughout the therapy sessions. [Subjects and Methods] This study demonstrates the results of using therapeutic games in patients with infantile cerebral palsy. The therapies were performed in 30-minute sessions for about 1 to 4 months. This study shows the progress of five children with cerebral palsy during the sessions. The time it took the children on each road and the times required to complete a task were measured. In addition, the level of difficulty of the games was gradually increased at each session. [Results] Results have shown good progress on the accuracy of the movements and an increase in concentration level during the execution of the games, showing an improvement in the patients' performance by 40-55% faster. [Conclusions] Health games encourage children to comply with therapy. The advantage of the game is that the patient can perform the therapy at home, which could help achieve further progress in patients.

Infantile acropustulosis revisited: history of scabies and response to topical corticosteroids.

PubMed

Mancini, A J; Frieden, I J; Paller, A S

1998-01-01

Infantile acropustulosis (IA) is a condition of young children characterized by recurrent episodes of pruritic vesicles and pustules in an acral distribution. Several reports describe patients with scabies infestation prior to the diagnosis of IA, although the relationship between the two remains unclear. Furthermore, optimal therapy is controversial. We reviewed the history of scabies and response to therapy in 21 patients diagnosed with IA at two institutions between 1983 and 1997. A history of prior treatment for scabies was noted in 14 patients, although only two had mites, feces, or ova detected on microscopic examination for diagnostic verification. All patients were treated with topical corticosteroids (4 with class I, 12 with class II, 3 with class III, 1 with class IV, and 1 with class VI). All 18 patients who returned for follow-up experienced significant improvement or cleared completely with treatment. There were no observed cutaneous or systemic side effects from corticosteroid therapy. We conclude that a history of preceding scabies is common in patients with IA, but often this diagnosis is made without microscopic confirmation. We also demonstrate that mid- to high-potency topical corticosteroids are a safe and effective first-line therapy for patients with IA.

X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping.

PubMed

Dressman, Devin; Ahearn, Mary Ellen; Yariz, Kemal O; Basterrecha, Hugo; Martínez, Francisco; Palau, Francesc; Barmada, M Michael; Clark, Robin Dawn; Meindl, Alfons; Wirth, Brunhilde; Hoffman, Eric P; Baumbach-Reardon, Lisa

2007-01-01

X-linked infantile spinal-muscular atrophy (XL-SMA) is a rare disorder, which presents with the clinical characteristics of hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and death in infancy. We have previously reported a single family with XL-SMA that mapped to Xp11.3-q11.2. Here we report further clinical description of XL-SMA plus an additional seven unrelated (XL-SMA) families from North America and Europe that show linkage data consistent with the same region. We first investigated linkage to the candidate disease gene region using microsatellite repeat markers. We further saturated the candidate disease gene region using polymorphic microsatellite repeat markers and single nucleotide polymorphisms in an effort to narrow the critical region. Two-point and multipoint linkage analysis was performed using the Allegro software package. Linkage analysis of all XL-SMA families displayed linkage consistent with the original XL-SMA region. The addition of new families and new markers has narrowed the disease gene interval for a XL-SMA locus between SNP FLJ22843 near marker DXS 8080 and SNP ARHGEF9 which is near DXS7132 (Xp11.3-Xq11.1).

NOTCH3 regulates stem-to-mural cell differentiation in infantile hemangioma.

PubMed

Edwards, Andrew K; Glithero, Kyle; Grzesik, Peter; Kitajewski, Alison A; Munabi, Naikhoba Co; Hardy, Krista; Tan, Qian Kun; Schonning, Michael; Kangsamaksin, Thaned; Kitajewski, Jan K; Shawber, Carrie J; Wu, June K

2017-11-02

Infantile hemangioma (IH) is a vascular tumor that begins with rapid vascular proliferation shortly after birth, followed by vascular involution in early childhood. We have found that NOTCH3, a critical regulator of mural cell differentiation and maturation, is expressed in hemangioma stem cells (HemSCs), suggesting that NOTCH3 may function in HemSC-to-mural cell differentiation and pathological vessel stabilization. Here, we demonstrate that NOTCH3 is expressed in NG2+PDGFRβ+ perivascular HemSCs and CD31+GLUT1+ hemangioma endothelial cells (HemECs) in proliferating IHs and becomes mostly restricted to the αSMA+NG2loPDGFRβlo mural cells in involuting IHs. NOTCH3 knockdown in HemSCs inhibited in vitro mural cell differentiation and perturbed αSMA expression. In a mouse model of IH, NOTCH3 knockdown or systemic expression of the NOTCH3 inhibitor, NOTCH3 Decoy, significantly decreased IH blood flow, vessel caliber, and αSMA+ perivascular cell coverage. Thus, NOTCH3 is necessary for HemSC-to-mural cell differentiation, and adequate perivascular cell coverage of IH vessels is required for IH vessel stability.

Role of thrombospondin-1 and nuclear factor-kappa B signaling pathways in anti-angiogenesis of infantile hemangioma.

PubMed

Xu, Weili; Li, Suolin; Yu, Fengxue; Zhang, Yongting; Yang, Xiaofeng; An, Wenting; Wang, Wenbo; Sun, Chi

2018-06-12

Propranolol (PRO) is the first-line drug for infantile hemangioma treatment. However, its mechanism of action remains unclear. Nuclear factor-kappa B (NF-κB) is highly expressed in tumors, directly or indirectly promoting angiogenesis. Thrombospondin-1 (TSP-1) is the most important anti-angiogenesis protein in vivo. These proteins mediate signaling pathways, probably playing an important role in hemangioma treatment. This study explored the synergistic regulation of TSP-1 and NF-κB signaling pathways in the treatment of hemangioma with PRO. The hemangioma-derived endothelial cells (HemECs) were sorted out from the specimens of proliferative hemangioma by flow cytometry. Furthermore, a BALB/c nude mice hemangioma model was established. Viability and proliferation of HemECs, and the role of TSP-1 and NF-κB signaling pathways were observed after PRO administration in vitro and in vivo. The expressions of TSP-1 and its receptor cluster of differentiation 36 (CD36) in HemECs gradually increased with the increase in PRO concentration, while the expressions of NF-κBp65, phosphorylated inhibitor of kappa B alpha (p-IκBα), and phosphorylated inhibitor of NF-κB kinase beta (p-IκKβ) weakened gradually (p < 0.05). In vivo, the tumors shrank gradually after PRO treatment, with increase in TSP-1 and CD36, and decrease in NF-κBp65, p-IκBα, and p-IκKβ (p < 0.05). Glucocorticoid improved the anti-angiogenesis mediated by TSP-1/CD36 and inhibited the angiogenesis mediated by NF-κB/IκB (p < 0.05). Negative regulation occurred between the two signaling pathways. The treatment of infantile hemangioma with PRO is promising to promote TSP-1-mediated anti-angiogenesis and block NF-κB-mediated angiogenesis.

Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion.

PubMed

Milone, Roberta; Valetto, Angelo; Bertini, Veronica; Sicca, Federico

2017-06-01

Benign infantile seizures (BIS) are usually a self-limiting condition, which may be associated with heterozygous mutations in the PRRT2 gene at chromosome 16p11.2. Here, we report a boy with a deletion in 16p11.2, presenting with BIS and typical neurodevelopment in the first year of life, unexpectedly followed by severe autistic regression. 16p11.2 deletions are typically associated with intellectual disability, autism, and language disorders, and only rarely with BIS. This clinical report shows that the neurodevelopmental prognosis in BIS patients may not always be benign, and suggests that array CGH screening should be considered for affected infants in order to rule out deletions at 16p11.2 and long-term clinical follow-up.

Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant.

PubMed

Tenney, Jeffrey R; Prada, Carlos E; Hopkin, Robert J; Hallinan, Barbara E

2013-12-01

Leigh syndrome, due to a dysfunction of mitochondrial energy metabolism, is a genetically heterogeneous and progressive neurologic disorder that usually occurs in infancy and childhood. Its clinical presentation and neuroimaging findings can be variable, especially early in the course of the disease. This report presents a patient with infantile Leigh syndrome who had atypical radiologic findings on serial neuroimaging studies with early and severe involvement of the cervical spinal cord and brainstem and injury to the thalami and basal ganglia occurring only late in the clinical course. Postmortem microscopic examination supported this timing of injury within the central nervous system. In addition, mitochondrial deoxyribonucleic acid sequencing showed a novel homoplasmic variant that could be responsible for this unique lethal form of Leigh syndrome.

Acidosis Differentially Modulates Inactivation in NaV1.2, NaV1.4, and NaV1.5 Channels

PubMed Central

Vilin, Yury Y.; Peters, Colin H.; Ruben, Peter C.

2012-01-01

NaV channels play a crucial role in neuronal and muscle excitability. Using whole-cell recordings we studied effects of low extracellular pH on the biophysical properties of NaV1.2, NaV1.4, and NaV1.5, expressed in cultured mammalian cells. Low pH produced different effects on different channel subtypes. Whereas NaV1.4 exhibited very low sensitivity to acidosis, primarily limited to partial block of macroscopic currents, the effects of low pH on gating in NaV1.2 and NaV1.5 were profound. In NaV1.2 low pH reduced apparent valence of steady-state fast inactivation, shifted the τ(V) to depolarizing potentials and decreased channels availability during onset to slow and use-dependent inactivation (UDI). In contrast, low pH delayed open-state inactivation in NaV1.5, right-shifted the voltage-dependence of window current, and increased channel availability during onset to slow and UDI. These results suggest that protons affect channel availability in an isoform-specific manner. A computer model incorporating these results demonstrates their effects on membrane excitability. PMID:22701426

Early proximal tibial valgus osteotomy as a very important prognostic factor in Thai children with infantile tibia vara.

PubMed

Kaewpornsawan, Kamolporn; Tangsataporn, Suksan; Jatunarapit, Ratiporn

2005-10-01

To find the effectiveness of the early surgery (2-3 years of age)as a very important prognostic factor affecting the outcomes in Thai children with infantile tibia vara and all the prognostic factors including the usefulness of arthrographic study in correcting the deformity. From 1994 to 2004, sixteen children aged average 3.61 years old (2.08-7.0) were treated in Siriraj Hospital and diagnosed as infantile tibia vara by Langenskiold radiographic staging were included in the present study and retrospectively reviewed with an average of 6.4 years follow up (range 6 month - 11.1 years). All cases were initially treated by surgery because of low compliance for brace or brace failure. They consisted of 3 boys and 13 girls. There were 24 legs including the bilateral involvement in 8 cases (2 boy and 6 girls). After arihrography, the midshaft fibular osteotomy was performed then the proximal tibial dome-shaped valgus osteotomy was done and fixed with 2 pins. The desired position was 12 degree knee valgus . The patients were divided in two groups, 1)group A,the successful group with the knee becoming normal without any deformity after single osteotomy, 2)group B,the recurrent group with recurrence of the varus deformity required further corrective osteotomies to make normal axis of the knee. All variables were analyzed and compared between group A and group B. The general characteristics and radiographic findings were recorded in 1)age, 2)sex, 3)side, 4)weight in kilogram and in percentage of normal or overweight(obesity) compared with the standard Thai weight chart, 5)tibiofemoral angle (TFA) pre and postoperative treatment, 6) metaphyseal diaphyseal angle (MDA), 7)the medial physeal slope angle (MPS, 8)The preoperative arthrographic articulo-diaphyseal angle (ADA), 9.arthrographic articulo-medial physeal angle (AMPA). There were 14 legs in group A and the remaining 10 legs were in group B (average 2.4 operations). All cases healed in good alignment of the legs without

Role of Na+ conductance, Na+-H+ exchange, and Na+-K+-2Cl− symport in the regulatory volume increase of rat hepatocytes

PubMed Central

Wehner, Frank; Tinel, Hanna

1998-01-01

In rat hepatocytes under hypertonic stress, the entry of Na+ (which is thereafter exchanged for K+ via Na+-K+-ATPase) plays the key role in regulatory volume increase (RVI).In the present study, the contributions of Na+ conductance, Na+-H+ exchange and Na+-K+-2Cl− symport to this process were quantified in confluent primary cultures by means of intracellular microelectrodes and cable analysis, microfluorometric determinations of cell pH and buffer capacity, and measurements of frusemide (furosemide)/bumetanide-sensitive 86Rb+ uptake, respectively. Osmolarity was increased from 300 to 400 mosmol l−1 by addition of sucrose.The experiments indicate a relative contribution of approximately 4:1:1 to hypertonicity-induced Na+ entry for the above-mentioned transporters and the overall Na+ yield equalled 51 mmol l−1 (10 min)−1.This Na+ gain is in good agreement with the stimulation of Na+ extrusion via Na+-K+-ATPase plus the actual increase in cell Na+, namely 55 mmol l−1 (10 min)−1, as was determined on the basis of ouabain-sensitive 86Rb+ uptake and by means of Na+-sensitive microelectrodes, respectively.The overall increase in Na+ and K+ activity plus the expected concomitant increase in cell Cl− equalled 68 mmol l−1, which fits well with the increase in osmotic activity expected to occur from an initial cell shrinkage to 87.5 % and a RVI to 92.6 % of control, namely 53 mosmol l−1.The prominent role of Na+ conductance in the RVI of rat hepatocytes could be confirmed on the basis of the pharmacological profile of this process, which was characterized by means of confocal laser-scanning microscopy. PMID:9481677

Investigating the relationship between foveal morphology and refractive error in a population with infantile nystagmus syndrome.

PubMed

Healey, Natasha; McLoone, Eibhlin; Mahon, Gerald; Jackson, A Jonathan; Saunders, Kathryn J; McClelland, Julie F

2013-04-26

We explored associations between refractive error and foveal hypoplasia in infantile nystagmus syndrome (INS). We recruited 50 participants with INS (albinism n = 33, nonalbinism infantile nystagmus [NAIN] n = 17) aged 4 to 48 years. Cycloplegic refractive error and logMAR acuity were obtained. Spherical equivalent (SER), most ametropic meridian (MAM) refractive error, and better eye acuity (VA) were used for analyses. High resolution spectral-domain optical coherence tomography (SD-OCT) was used to obtain foveal scans, which were graded using the Foveal Hypoplasia Grading Scale. Associations between grades of severity of foveal hypoplasia, and refractive error and VA were explored. Participants with more severe foveal hypoplasia had significantly higher MAMs and SERs (Kruskal-Wallis H test P = 0.005 and P = 0.008, respectively). There were no statistically significant associations between foveal hypoplasia and cylindrical refractive error (Kruskal-Wallis H test P = 0.144). Analyses demonstrated significant differences between participants with albinism or NAIN in terms of SER and MAM (Mann-Whitney U test P = 0.001). There were no statistically significant differences between astigmatic errors between participants with albinism and NAIN. Controlling for the effects of albinism, results demonstrated no significant associations between SER, and MAM and foveal hypoplasia (partial correlation P > 0.05). Poorer visual acuity was associated statistically significantly with more severe foveal hypoplasia (Kruskal-Wallis H test P = 0.001) and with a diagnosis of albinism (Mann-Whitney U test P = 0.001). Increasing severity of foveal hypoplasia is associated with poorer VA, reflecting reduced cone density in INS. Individuals with INS also demonstrate a significant association between more severe foveal hypoplasia and increasing hyperopia. However, in the absence of albinism, there is no significant relation between refractive outcome and degree of foveal hypoplasia

Kinetic contribution to extracellular Na+/K+ selectivity in the Na+/K+ pump.

PubMed

Vleeskens, Elizabeth; Clarke, Ronald J

2018-05-01

The sodium potassium pump (Na + ,K + -ATPase) shows a high selectivity for K + over Na + binding from the extracellular medium. To understand the K + selectivity in the presence of a high concentration of competing Na + ions requires consideration of more than just ion binding affinities. Here, equilibrium-based calculations of the extracellular occupation of the Na + ,K + -ATPase transport sites by Na + and K + are compared to fluxes through Na + and K + transport pathways. The results show that, under physiological conditions, there is a 332-fold selectivity for pumping of K + from the extracellular medium into the cytoplasm relative to Na + , whereas equilibrium calculations alone predict only a 7.5-fold selectivity for K + . Thus, kinetic effects make a major contribution to the determination of extracellular K + selectivity.

[Non-operative treatment for severe forms of infantile idiopathic scoliosis].

PubMed

Trobisch, P D; Samdani, A; O'Neil, C; Betz, R; Cahill, P

2012-02-01

Infantile idiopathic scoliosis (IIS) is a rare orthopaedic condition. Braces and casts are popular options in the treatment of IIS but there is a paucity of studies commenting on the outcome of non-operative treatment. The purpose of this study was to analyse failure and success after non-operative treatment for severe forms of IIS. We retrospectively reviewed the data of all children who had been treated for IIS between 2003 and 2009 at a single institution. After calculating the failure and success rates, we additionally performed a risk factor analysis for patients who failed non-operative treatment. Chi (2) and T tests were used for statistical analysis with significance set at p < 0.05. 25 children with an average age of 11 months and an Cobb angle of 46 degrees at presentation were analysed. Seven (28 %) patients were considered as having failed non-operative treatment after an average follow-up of 28 months. The pretreatment Cobb angle was identified as single significant risk factor for failure (55 versus 42) while neither age, gender, nor RVAD seem to influence the outcome. In children who were considered as successfully treated, the Cobb angle decreased from 42 to 18 degrees. Non-operative treatment for IIS is successful in 3 out of 4 patients. © Georg Thieme Verlag KG Stuttgart · New York.

Autoantibodies other than Anti-desmogleins in Pemphigus Vulgaris Patients

PubMed Central

Saleh, Marwah Adly; Salem, Hedayat; El Azizy, Hoda

2017-01-01

Background: Pemphigus vulgaris (PV) is an immunoglobulin G-mediated autoimmune bullous skin disease. Nonorgan-specific antibodies were detected in Tunisian and Brazilian pemphigus patients with different prevalence. Materials and Methods: Fifty PV patients and fifty controls were screened for antinuclear antibodies (ANAs), anti-smooth muscle antibodies (ASMAs), anti-parietal antibodies (APAs), anti-mitochondrial antibodies, and Anti-nuclear cytoplasmic antibodies (ANCA) by indirect immunofluorescence. Results: Thirty-nine patients were female and 11 were male. Fifteen patients did not receive treatment before while 35 patients were on systemic steroid treatment ± azathioprine. Twenty (40%) of the PV patients and 1 (2%) control had positive ANA. ANA was significantly higher in PV patients than controls, P < 0.0001. ASMAs were detected in 20 (40%) PV patients and none of the controls. ASMA was significantly higher in PV patients than controls, P < 0.0001. No significant difference was detected between treated and untreated regarding ANA, P - 0.11. However, there was a significant difference between treated and untreated regarding ASMA, P - 0.03. Six patients (12%) and none of the controls had positive APA. There was a significant difference between the patients and the controls in APA. P - 0.027. Conclusion: Egyptian PV patients showed more prevalent ANA, ASMA, and APA than normal controls. Follow-up of those patients is essential to detect the early development of concomitant autoimmune disease. Environmental factors might account for the variability of the nonorgan-specific antibodies among different populations. PMID:28216725

[Osseous and soft tissue operations for treatment of joint malpositioning in infantile cerebral palsy].

PubMed

Senst, S

2013-12-01

If untreated infantile cerebral palsy (ICP) leads to a progressive shortening of muscles and to progressive joint malpositioning. In addition a number of other disorders also result, in particular sensory disorders, intelligence deficits and epilepsy. In order to optimally treat as many as possible of the problems of multi-handicapped children with ICP it is of immanent importance that physiotherapists, occupational therapists, speech therapists, orthopedic technicians, pediatric orthopedists as well as neuropediatricians and social pediatricians work as a team. Surgical measures to correct joint malpositioning serve to improve the function and also to avoid or alleviate pain. Functional improvement measures are ideally undertaken during or shortly before elementary school age, thus enabling a further verticalization/straightening and mobilization. To improve symmetry and therefore the sitting posture, surgery is also indicated for profoundly disabled patients, sometimes making foot operations necessary. It is only in this way that maximum participation can be guaranteed and if necessary utilizing additional aids, such as Zimmer frames or E-wheelchairs.

Single-plane compensatory phase shift of head and eye oscillations in infantile nystagmus syndrome.

PubMed

Anagnostou, Evangelos; Spengos, Konstantinos; Anastasopoulos, Dimitri

2011-09-15

A 43-year-old man with infantile nystagmus syndrome complained of "head tremor" that would occur during attempted reading. Three-dimensional, combined eye and head recordings were performed with the magnetic search coil technique in two conditions: 1) looking straight-ahead under photopic conditions without a particular attentional focus and 2) reading a simple text held one meter away. A mainly vertical-horizontal spontaneous nystagmus was evident in both conditions, whereas head nodding emerged in the second condition. The head oscillated only in the vertical plane and concomitant analysis of eye and head displacement revealed a counterphase, compensatory pattern of the first harmonic of the INS waveform. This was verified by the significant negative peak of the crosscorrelogram at zero lag. Eye-in-space (gaze) displacement during nystagmic oscillations was thereby reduced suggesting a central adaptive behavior that may have evolved to partly compensate for the abnormal eye movements during reading. Copyright © 2011 Elsevier B.V. All rights reserved.

"Dancing on eggs": Charles H. Bynum, racial politics, and the National Foundation for Infantile Paralysis, 1938-1954.

PubMed

Mawdsley, Stephen E

2010-01-01

In 1938, President Franklin D. Roosevelt and his law partner Basil O'Connor formed the National Foundation for Infantile Paralysis (NFIP) to battle the viral disease poliomyelitis. Although the NFIP program was purported to be available for all Americans irrespective of "race, creed, or color," officials encountered numerous difficulties upholding this pledge in a nation divided by race. In 1944, NFIP officials hired educator Charles H. Bynum to head a new department of "Negro Activities." Between 1944 and 1954, Bynum negotiated the NFIP bureaucracy to educate officials and influence their national health policy. As part of the NFIP team, he helped increase interracial fund-raising in the March of Dimes, improve polio treatment for black Americans, and further the civil rights movement.

Infantile scurvy: an old diagnosis revisited with a modern dietary twist.

PubMed

Burk, Cynthia J; Molodow, Rona

2007-01-01

Ascorbic acid (vitamin C) is necessary for the formation of collagen, reducing free radicals, and aiding in iron absorption. Scurvy, a disease of dietary ascorbic acid deficiency, is uncommon today. Indeed, implementation of dietary recommendations largely eradicated infantile scurvy in the US in the early 1900s. We present a case of an otherwise healthy 2-year-old Caucasian girl who presented with refusal to walk secondary to pain in her lower extremities, generalized irritability, sleep disturbance, and malaise. The girl's parents described feeding the patient an organic diet recommended by the Church of Scientology that included a boiled mixture of organic whole milk, barley, and corn syrup devoid of fruits and vegetables. Physical examination revealed pale, bloated skin with edematous, violaceous gums and loosening of a few of her teeth. Dermatologic findings included xerosis, multiple scattered ecchymoses of the extremities, and perifollicular hemorrhage. Laboratory and radiographic evaluation confirmed the diagnosis of scurvy. The patient showed dramatic improvement after only 3 days of treatment with oral ascorbic acid and significant dietary modification. In this case report, we revisit the old diagnosis of scurvy with a modern dietary twist secondary to religious practices. This case highlights the importance of taking a detailed dietary history when evaluating diseases involving the skin.

Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation

PubMed Central

Rodriguez, Diana; Gauthier, Fernande; Bertini, Enrico; Bugiani, Marianna; Brenner, Michael; N'guyen, Sylvie; Goizet, Cyril; Gelot, Antoinette; Surtees, Robert; Pedespan, Jean-Michel; Hernandorena, Xavier; Troncoso, Monica; Uziel, Graziela; Messing, Albee; Ponsot, Gérard; Pham-Dinh, Danielle; Dautigny, André; Boespflug-Tanguy, Odile

2001-01-01

Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene have recently been reported in 12 patients affected by neuropathologically proved Alexander disease. We searched for GFAP mutations in a series of patients who had heterogeneous clinical symptoms but were candidates for Alexander disease on the basis of suggestive neuroimaging abnormalities. Missense, heterozygous, de novo GFAP mutations were found in exons 1 or 4 for 14 of the 15 patients analyzed, including patients without macrocephaly. Nine patients carried arginine mutations (four had R79H; four had R239C; and one had R239H) that have been described elsewhere, whereas the other five had one of four novel mutations, of which two affect arginine (2R88C and 1R88S) and two affect nonarginine residues (1L76F and 1N77Y). All mutations were located in the rod domain of GFAP, and there is a correlation between clinical severity and the affected amino acid. These results confirm that GFAP mutations are a reliable molecular marker for the diagnosis of infantile Alexander disease, and they also form a basis for the recommendation of GFAP analysis for prenatal diagnosis to detect potential cases of germinal mosaicism. PMID:11567214

Historical overview of infantile visceral leishmaniasis in El Agamy, Alexandria, Egypt.

PubMed

Kassem, Hala A; Beier, John C; El Sawaf, Bahira M

2017-12-01

Infantile visceral leishmaniasis (IVL) is considered a rare and neglected disease in Egypt. An outbreak of the disease in El Agamy, Alexandria occurred in 1982 although the disease was previously reported 80 years before. Epidemiological and entomological studies were conducted ever since the 1982 outbreak to identify human cases, the parasite, reservoir host and the sand fly vector. Leishmania infantum MON-98, a new and unique zymodeme, was responsible of the disease. Stray dogs acted as the reservoir host and Phlebotomus langeroni was the proven vector. The parasite isolates from human cases were identical to the parasite isolates from the reservoir host and the sand fly vector. The El Agamy focus in 1982 was basically a rural Bedouin setting of recently built cement houses surrounded by lime stone fences. The numbers of human cases of IVL in this area have been declining, with the last reported case in 2005. This coincides with the completion of irregular urbanization of El Agamy which resulted in the disappearance of P. langeroni. In this review, we characterize the old focus of IVL in El Agamy based on published literature to identify factors underlying the appearance and disappearance of the disease. Copyright © 2017 Elsevier B.V. All rights reserved.

The lysosomal degradation of neuromedin B is dependent on tripeptidyl peptidase-I: evidence for the impairment of neuropeptide degradation in late-infantile neuronal ceroid lipofuscinosis.

PubMed

Kopan, Sharmila; Sivasubramaniam, Uthayatharsini; Warburton, Michael J

2004-06-18

Late-infantile neuronal ceroid lipofuscinosis (CLN2), previously known as the late-infantile form of Batten disease, is a lysosomal storage disease which results from mutations in the gene that codes for tripeptidyl peptidase-I (TPP-I). This disease is characterised by progressive neurodegeneration in young children although the molecular mechanisms responsible for neuronal cell death are unclear. TPP-I is an exopeptidase which removes N-terminal tripeptides from small peptides, including several peptide hormones. We report that the degradation of the neuropeptide, neuromedin B, by mouse brain cells is restricted to lysosomes and that the pattern of degradation products is consistent with a predominant role for TPP-I. Neuromedin B is degraded by a similar pathway in a mouse neuronal cell line and also in cultured human fibroblasts. A specific inhibitor of TPP-I is able to abolish neuromedin B degradation in a variety of cell types. Fibroblasts from CLN2 patients, which are deficient in TPP-I activity, are unable to degrade neuromedin B. These observations suggest that TPP-I is the predominant proteolytic enzyme responsible for the intracellular degradation of neuromedin B. The inability of cells from CLN2 patients to degrade neuromedin B and other neuropeptides may contribute to the pathogenesis of the disease.

Placental pathology predicts infantile physical development during first 18 months in Japanese population: Hamamatsu birth cohort for mothers and children (HBC Study)

PubMed Central

Yaguchi, Chizuko; Tsuchiya, Kenji J.; Furuta-Isomura, Naomi; Horikoshi, Yoshimasa; Matsumoto, Masako; Jeenat, Ferdous U.; Keiko, Muramatsu-Kato; Kohmura-Kobatashi, Yukiko; Tamura, Naoaki; Sugihara, Kazuhiro; Kanayama, Naohiro

2018-01-01

The present study aimed to investigate the relationship between placental pathological findings and physiological development during the neonate and infantile periods. Study participants were 258 infants from singleton pregnancies enrolled in the Hamamatsu Birth Cohort for Mothers and Children (HBC Study) whose placentas were stored in our pathological division. They were followed up from birth to 18 months of age. Physiological development (body weight and the ponderal index [PI]) was assessed at 0, 1, 4, 6, 10, 14, and 18 months. Placental blocks were prepared by random sampling and eleven pathological findings were assessed, as follows: ‘Accelerated villous maturation’, ‘Decidual vasculopathy’, ‘Thrombosis or Intramural fibrin deposition’, ‘Avascular villi’, ‘Delayed villous maturation’, ‘Maternal inflammatory response’, ‘Fetal inflammatory response’, ‘Villitis of unknown etiology (VUE)’, ‘Deciduitis’, ‘Maternal vascular malperfusion’, and ‘Fetal vascular malperfusion’. Mixed model analysis with the use of the xtmixed command by the generic statistical software, Stata version 13.1., identified ‘Accelerated villous maturation’ and ‘Maternal vascular malperfusion’ as significant predictors of a lower body weight and ‘Deciduitis’ as a significant predictor of a small PI, throughout the first 18 months of life. In conclusion, the present study is the first to demonstrate that some pathological findings of the placenta are associated with changes in infantile physical development during the initial 18 months of life in the Japanese population. PMID:29634735

An algorithm for automating the registration of USDA segment ground data to LANDSAT MSS data

NASA Technical Reports Server (NTRS)

Graham, M. H. (Principal Investigator)

1981-01-01

The algorithm is referred to as the Automatic Segment Matching Algorithm (ASMA). The ASMA uses control points or the annotation record of a P-format LANDSAT compter compatible tape as the initial registration to relate latitude and longitude to LANDSAT rows and columns. It searches a given area of LANDSAT data with a 2x2 sliding window and computes gradient values for bands 5 and 7 to match the segment boundaries. The gradient values are held in memory during the shifting (or matching) process. The reconstructed segment array, containing ones (1's) for boundaries and zeros elsewhere are computer compared to the LANDSAT array and the best match computed. Initial testing of the ASMA indicates that it has good potential for replacing the manual technique.

Na and K Dependence of the Na/K Pump in Cystic Fibrosis Fibroblasts

NASA Astrophysics Data System (ADS)

Reznik, Vivian M.; Schneider, Jerry A.; Mendoza, Stanley A.

1981-11-01

The Na and K dependence of the Na/K pump was measured in skin fibroblasts from patients with cystic fibrosis and age/sex-matched controls. Under basal conditions, there was no difference between control and cystic fibrosis cells in protein per cell, intracellular Na and K content, or Na/K pump activity (measured as ouabain-sensitive 86Rb uptake). There was no difference in the Na dependence of the Na/K pump between cystic fibrosis cells and control cells. In cells from patients with cystic fibrosis, the Na/K pump had a significantly lower affinity for K (Km = 1.6 mM) when compared to normals (Km = 0.9 mM). This difference was demonstrated by using two independent experimental designs.

MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis

PubMed Central

Baker, Eva H.; Levin, Sondra W.; Zhang, Zhongjian; Mukherjee, Anil B.

2016-01-01

Background Infantile neuronal ceroid lipofuscinosis (INCL) is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase-1 (PPT1) deficiency. PPT1 deficiency impairs degradation of palmitoylated proteins (constituents of ceroid) by lysosomal hydrolases. Consequent lysosomal ceroid accumulation leads to neuronal injury, resulting in rapid neurodegeneration and childhood demise. As part of a project studying treatment benefits of a combination of cysteamine bitartrate and N-acetylcysteine, we made serial measurements of patients’ brain volumes using MRI. Methods Ten INCL patients participating in a treatment/follow-up study underwent brain MRI that included high resolution T1-weighted images. After manual placement of a mask delineating the surface of the brain, a maximum-likelihood classifier was applied to determine total brain volume, further subdivided as cerebrum, cerebellum, brainstem, and thalamus. Patients’ brain volumes were compared to those of a normal population. Results Major subdivisions of the brain followed similar trajectories with different timing. The cerebrum demonstrated early, rapid volume loss, and may never have been normal postnatally. The thalamus dropped out of the normal range around age 6 months, cerebellum around age 2 years, and brainstem around age 3 years. Discussion Rapid cerebral volume loss was expected based upon previous qualitative reports. Because our study did not include a non-treatment arm, and because progression of brain volumes in INCL has not previously been quantified, we could not determine whether our intervention had a beneficial effect on brain volumes. However, the level of quantitative detail in this study allows it to serve as a reference for evaluation of future therapeutic interventions. PMID:27765741

Basil O'Connor, the National Foundation for Infantile Paralysis and the Reorganization of Polio Research in the United States, 1935-41.

PubMed

Wilson, Daniel J

2015-07-01

The costs associated with polio research in the late 1920s were high, while sources for research funding remained scarce. This began to change in the early 1930s with the creation of three private philanthropies that would form the basis of a system to fund polio research adequately: the International Committee for the Study of Infantile Paralysis (1928), The President's Birthday Ball Commission (1934), and the National Foundation for Infantile Paralysis (1938). This article explores how these three organizations shaped the process for directing funds to polio research. Beginning with the International Committee, all three philanthropies used medical advisory committees as vehicles for the review of proposals for research. The National Foundation adopted many of the policies and procedures of the earlier organizations, drawing on the experiences, misfortunes, and successes of its predecessors. The National Foundation also relied on some of the same personnel, although the microbiologist and writer Paul de Kruif, who was an influential figure in the early years, was gradually pushed out. This essay explores the establishment of the medical advisory committees of the National Foundation and reveals how by 1941 under leadership of Basil O'Connor and Dr. Thomas Rivers they developed a systematic and readily legitimated process for directing funding. By 1941, the NFIP had in place the fund-raising capacity to underwrite the scientific research that would ultimately produce two successful polio vaccines in the next twenty years. © The Author 2014. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Response of saliva Na/K ratio to changing Na supply of lactating cows under tropical conditions.

PubMed

Thiangtum, Wandee; Schonewille, J Thomas; Verstegen, Martin Wa; Arsawakulsudhi, Supot; Rukkwamsuk, Theera; Hendriks, Wouter H

2017-06-01

Factorial determination of the sodium (Na) requirement of heat-stressed lactating cows is hindered by accurate estimates of the Na losses through sweat. Direct studies, therefore, may be needed requiring information on the time course of healthy animals to become Na depleted and the subsequent rate of repletion. The rate of Na depletion and subsequent rate of Na repletion with two levels of dietary Na to lactating dairy cows housed under tropical conditions were investigated using the salivary Na/K. The 12 lactating cows (salivary Na/K ratio 14.6) rapidly developed clinical signs of Na deficiency, including pica, polyuria and polydipsia, reduced body weight and reduced milk yield when fed a low-Na ration (0.33 g kg -1 dry matter (DM)) for 3 weeks. Deficiency symptoms were associated with a rapid decrease in salivary Na/K ratio to <4.3 from 7 to 21 days. Subsequent repletion of the cows with NaCl to a ration concentration of 1.1 or 1.6 g Na kg -1 DM for 5 weeks did not restore salivary Na/K ratio to values of >6. A daily Na intake of heat-stressed lactating cows to a ration intake of 1.6 g Na kg -1 DM was insufficient to restore Na deficiency. One week was sufficient to deplete heat-stressed lactating cows of Na, allowing for rapid dose-response studies utilizing the salivary Na/K ratio as a parameter for Na status of cows under tropical conditions. © 2016 Society of Chemical Industry. © 2016 Society of Chemical Industry.

Glutathionylation-Dependence of Na(+)-K(+)-Pump Currents Can Mimic Reduced Subsarcolemmal Na(+) Diffusion.

PubMed

Garcia, Alvaro; Liu, Chia-Chi; Cornelius, Flemming; Clarke, Ronald J; Rasmussen, Helge H

2016-03-08

The existence of a subsarcolemmal space with restricted diffusion for Na(+) in cardiac myocytes has been inferred from a transient peak electrogenic Na(+)-K(+) pump current beyond steady state on reexposure of myocytes to K(+) after a period of exposure to K(+)-free extracellular solution. The transient peak current is attributed to enhanced electrogenic pumping of Na(+) that accumulated in the diffusion-restricted space during pump inhibition in K(+)-free extracellular solution. However, there are no known physical barriers that account for such restricted Na(+) diffusion, and we examined if changes of activity of the Na(+)-K(+) pump itself cause the transient peak current. Reexposure to K(+) reproduced a transient current beyond steady state in voltage-clamped ventricular myocytes as reported by others. Persistence of it when the Na(+) concentration in patch pipette solutions perfusing the intracellular compartment was high and elimination of it with K(+)-free pipette solution could not be reconciled with restricted subsarcolemmal Na(+) diffusion. The pattern of the transient current early after pump activation was dependent on transmembrane Na(+)- and K(+) concentration gradients suggesting the currents were related to the conformational poise imposed on the pump. We examined if the currents might be accounted for by changes in glutathionylation of the β1 Na(+)-K(+) pump subunit, a reversible oxidative modification that inhibits the pump. Susceptibility of the β1 subunit to glutathionylation depends on the conformational poise of the Na(+)-K(+) pump, and glutathionylation with the pump stabilized in conformations equivalent to those expected to be imposed on voltage-clamped myocytes supported this hypothesis. So did elimination of the transient K(+)-induced peak Na(+)-K(+) pump current when we included glutaredoxin 1 in patch pipette solutions to reverse glutathionylation. We conclude that transient K(+)-induced peak Na(+)-K(+) pump current reflects the effect

Glutathionylation-Dependence of Na+-K+-Pump Currents Can Mimic Reduced Subsarcolemmal Na+ Diffusion

PubMed Central

Garcia, Alvaro; Liu, Chia-Chi; Cornelius, Flemming; Clarke, Ronald J.; Rasmussen, Helge H.

2016-01-01

The existence of a subsarcolemmal space with restricted diffusion for Na+ in cardiac myocytes has been inferred from a transient peak electrogenic Na+-K+ pump current beyond steady state on reexposure of myocytes to K+ after a period of exposure to K+-free extracellular solution. The transient peak current is attributed to enhanced electrogenic pumping of Na+ that accumulated in the diffusion-restricted space during pump inhibition in K+-free extracellular solution. However, there are no known physical barriers that account for such restricted Na+ diffusion, and we examined if changes of activity of the Na+-K+ pump itself cause the transient peak current. Reexposure to K+ reproduced a transient current beyond steady state in voltage-clamped ventricular myocytes as reported by others. Persistence of it when the Na+ concentration in patch pipette solutions perfusing the intracellular compartment was high and elimination of it with K+-free pipette solution could not be reconciled with restricted subsarcolemmal Na+ diffusion. The pattern of the transient current early after pump activation was dependent on transmembrane Na+- and K+ concentration gradients suggesting the currents were related to the conformational poise imposed on the pump. We examined if the currents might be accounted for by changes in glutathionylation of the β1 Na+-K+ pump subunit, a reversible oxidative modification that inhibits the pump. Susceptibility of the β1 subunit to glutathionylation depends on the conformational poise of the Na+-K+ pump, and glutathionylation with the pump stabilized in conformations equivalent to those expected to be imposed on voltage-clamped myocytes supported this hypothesis. So did elimination of the transient K+-induced peak Na+-K+ pump current when we included glutaredoxin 1 in patch pipette solutions to reverse glutathionylation. We conclude that transient K+-induced peak Na+-K+ pump current reflects the effect of conformation-dependent β1 pump subunit

Cytosolic Na+ Controls an Epithelial Na+ Channel Via the Go Guanine Nucleotide-Binding Regulatory Protein

NASA Astrophysics Data System (ADS)

Komwatana, P.; Dinudom, A.; Young, J. A.; Cook, D. I.

1996-07-01

In tight Na+-absorbing epithelial cells, the rate of Na+ entry through amiloride-sensitive apical membrane Na+ channels is matched to basolateral Na+ extrusion so that cell Na+ concentration and volume remain steady. Control of this process by regulation of apical Na+ channels has been attributed to changes in cytosolic Ca2+ concentration or pH, secondary to changes in cytosolic Na+ concentration, although cytosolic Cl- seems also to be involved. Using mouse mandibular gland duct cells, we now demonstrate that increasing cytosolic Na+ concentration inhibits apical Na+ channels independent of changes in cytosolic Ca2+, pH, or Cl-, and the effect is blocked by GDP-β -S, pertussis toxin, and antibodies against the α -subunits of guanine nucleotide-binding regulatory proteins (Go). In contrast, the inhibitory effect of cytosolic anions is blocked by antibodies to inhibitory guanine nucleotide-binding regulatory proteins (Gi1/Gi2. It thus appears that apical Na+ channels are regulated by Go and Gi proteins, the activities of which are controlled, respectively, by cytosolic Na+ and Cl-.

Superconductivity could occur Na-supersaturated NaCl

NASA Astrophysics Data System (ADS)

Hanaki, Koji

1997-04-01

A flow-into electron and a flow-out hole mean flow-into of two unit electric c harges. Even if an exciton consisting of an electron and a hole is a neutral q uasi-particle, overlapping of excitons, namely, the bose condensation changes into a superconductor where half the electric current is due to holes moving t oward the reverse direction. The Meisner effect of the bose condensation comes from the precession of the each exciton under the magnetic field^1. Moreo ver, the present mechanism is supported with that superconducting material alw ays has two kinds of carriers. The superconductivity of NaCl comes from the ab ove-mentioned theory. Free stable holes at first and then electrons are produc ed in NaCl when considerable number of Cl^- lattice vacancies are brought in NaCl mainly because some electrons in the Cl-3p filled band fall into the v acancies. The coexistence of two kinds of stable carriers does not always mean the presence of excitons like VO with electrons not paired and localized in e ach V atom though. While, the absorption spectrum of the NaCl has already conf irmed the presence of excitons; the strength of the spectrum seems to indicate the formation of the bose condensation. Thus we could expect a new supercondu ctor. 1) Hanaki B.Am.P.Soc.,40-1(1995)568

The emerging phenotype of long-term survivors with infantile Pompe disease

PubMed Central

Prater, Sean N.; Banugaria, Suhrad G.; DeArmey, Stephanie M.; Botha, Eleanor G.; Stege, Erin M.; Case, Laura E.; Jones, Harrison N.; Phornphutkul, Chanika; Wang, Raymond Y.; Young, Sarah P.; Kishnani, Priya S.

2013-01-01

Purpose Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges. We describe an emerging phenotype in a retrospective review of long-term survivors. Methods Inclusion criteria included ventilator-free status and age ≤6 months at treatment initiation, and survival to age ≥5 years. Clinical outcome measures included invasive ventilator-free survival and parameters for cardiac, pulmonary, musculoskeletal, gross motor and ambulatory status; growth; speech, hearing, and swallowing; and gastrointestinal and nutritional status. Results Eleven of 17 patients met study criteria. All were cross-reactive immunologic material-positive, alive, and invasive ventilator-free at most recent assessment, with a median age of 8.0 years (range: 5.4 to 12.0 years). All had marked improvements in cardiac parameters. Commonly present were gross motor weakness, motor speech deficits, sensorineural and/or conductive hearing loss, osteopenia, gastroesophageal reflux disease, and dysphagia with aspiration risk. Seven of 11 patients were independently ambulatory and four required the use of assistive ambulatory devices. All long-term survivors had low or undetectable anti-alglucosidase alfa antibody titers. Conclusions Long-term survivors exhibited sustained improvements in cardiac parameters and gross motor function. Residual muscle weakness, hearing loss, risk for arrhythmias, hypernasal speech, dysphagia with risk for aspiration, and osteopenia were commonly observed findings. PMID:22538254

Prognostic Impact of Activated Leucocyte Cell Adhesion Molecule (ALCAM/CD166) in Infantile Neuroblastoma.

PubMed

Wachowiak, Robin; Mayer, Steffi; Kaifi, Jussuf; Gebauer, Florian; Izbicki, Jakob R; Lacher, Martin; Bockhorn, Maximilian; Tachezy, Michael

2016-08-01

Activated leukocyte cell adhesion molecule (ALCAM/CD166) as a member of the 'immunoglobulin superfamily' is known to be involved in cancer cell proliferation and migration. The aim of this study was to investigate the expression of ALCAM in neuroblastoma tissues. ALCAM expression was analyzed in primary neuroblastoma specimens by immunohistochemistry on microarray sections. Histopathological and clinical data were correlated with ALCAM expression and survival analysis was performed. Sixty-six children were included in the study. Strong expression of ALCAM was detected in 52 (79%) of the samples. Weak expression was significantly correlated with the International Neuroblastoma Staging System (INSS) stage (p=0.024) and positive n-MYC amplification (p=0.019). Recurrence-free survival (RFS) and overall survival (OS) were significantly shorter if ALCAM was expressed weakly (p=0.032 and p=0.001). Weak ALCAM expression was significantly correlated with established markers for poor prognosis, as well as shorter RFS and OS. ALCAM might be considered as a prognostic marker for infantile neuroblastoma. Copyright© 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I.

PubMed

Vines, D J; Warburton, M J

1999-01-25

Tripeptidyl peptidase I (TPP-I) is a lysosomal enzyme that cleaves tripeptides from the N-terminus of polypeptides. A comparison of TPP-I amino acid sequences with sequences derived from an EST database suggested that TPP-I is identical to a pepstatin-insensitive carboxyl proteinase of unknown specificity which is mutated in classical late infantile neuronal ceroid lipofuscinosis (LINCL), a lysosomal storage disease. Both TPP-I and the carboxyl proteinase have an M(r) of about 46 kDa and are, or are predicted to be, resistant to inhibitors of the four major classes of proteinases. Fibroblasts from LINCL patients have less than 5% of the normal TPP-I activity. The activities of other lysosomal enzymes, including proteinases, are in the normal range. LINCL fibroblasts are also defective at degrading short polypeptides and this defect can be induced in normal fibroblasts by treatment with a specific inhibitor or TPP-I. These results suggest that the cell damage, especially neuronal, observed in LINCL results from the defective degradation and consequent lysosomal storage of small peptides.

DOR activation inhibits anoxic/ischemic Na+ influx through Na+ channels via PKC mechanisms in the cortex.

PubMed

Chao, Dongman; He, Xiaozhou; Yang, Yilin; Bazzy-Asaad, Alia; Lazarus, Lawrence H; Balboni, Gianfranco; Kim, Dong H; Xia, Ying

2012-08-01

Activation of delta-opioid receptors (DOR) is neuroprotective against hypoxic/ischemic injury in the cortex, which is at least partially related to its action against hypoxic/ischemic disruption of ionic homeostasis that triggers neuronal injury. Na(+) influx through TTX-sensitive voltage-gated Na(+) channels may be a main mechanism for hypoxia-induced disruption of K(+) homeostasis, with DOR activation attenuating the disruption of ionic homeostasis by targeting voltage-gated Na(+) channels. In the present study we examined the role of DOR in the regulation of Na(+) influx in anoxia and simulated ischemia (oxygen-glucose deprivation) as well as the effect of DOR activation on the Na(+) influx induced by a Na(+) channel opener without anoxic/ischemic stress and explored a potential PKC mechanism underlying the DOR action. We directly measured extracellular Na(+) activity in mouse cortical slices with Na(+) selective electrodes and found that (1) anoxia-induced Na(+) influx occurred mainly through TTX-sensitive Na(+) channels; (2) DOR activation inhibited the anoxia/ischemia-induced Na(+) influx; (3) veratridine, a Na(+) channel opener, enhanced the anoxia-induced Na(+) influx; this could be attenuated by DOR activation; (4) DOR activation did not reduce the anoxia-induced Na(+) influx in the presence of chelerythrine, a broad-spectrum PKC blocker; and (5) DOR effects were blocked by PKCβII peptide inhibitor, and PKCθ pseudosubstrate inhibitor, respectively. We conclude that DOR activation inhibits anoxia-induced Na(+) influx through Na(+) channels via PKC (especially PKCβII and PKCθ isoforms) dependent mechanisms in the cortex. Copyright © 2012 Elsevier Inc. All rights reserved.

Computational and Experimental Investigations of Na-Ion Conduction in Cubic Na 3PSe 4

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

Bo, Shou -Hang; Wang, Yan; Kim, Jae Chul

All-solid-state Na-ion batteries that operate at or close to room temperature are a promising next-generation battery technology with enhanced safety and reduced manufacturing cost. An indispensable component of this technology is the solid-state electrolyte that allows rapid shuttling of the mobile cation (i.e., Na +) between the cathode and anode. However, there are very few fast Na-ion conductors with ionic conductivity approaching that of the liquid counterparts (i.e., 1 mS cm –1). In this work, we present the synthesis and characterization of a fast Na-ion conductor, cubic Na 3PSe 4. This material possesses a room-temperature ionic conductivity exceeding 0.1 mSmore » cm –1 and does not require high-temperature sintering to minimize grain boundary resistance, making it a promising solid-state electrolyte candidate for all-solid-state Na-ion battery applications. On the basis of density functional theory, nudged elastic band, and molecular dynamics investigations, we demonstrate that the framework of cubic Na 3PSe 4 only permits rapid Na + diffusion with the presence of defects, and that the formation of the Na vacancy (charge-balanced by slight Se 2– oxidation) is more energetically favorable among the various defects considered. This finding provides important guidelines to further improve Na-ion conductivity in this class of materials.« less

Computational and Experimental Investigations of Na-Ion Conduction in Cubic Na 3PSe 4

DOE PAGES

Bo, Shou -Hang; Wang, Yan; Kim, Jae Chul; ...

2015-11-17

All-solid-state Na-ion batteries that operate at or close to room temperature are a promising next-generation battery technology with enhanced safety and reduced manufacturing cost. An indispensable component of this technology is the solid-state electrolyte that allows rapid shuttling of the mobile cation (i.e., Na +) between the cathode and anode. However, there are very few fast Na-ion conductors with ionic conductivity approaching that of the liquid counterparts (i.e., 1 mS cm –1). In this work, we present the synthesis and characterization of a fast Na-ion conductor, cubic Na 3PSe 4. This material possesses a room-temperature ionic conductivity exceeding 0.1 mSmore » cm –1 and does not require high-temperature sintering to minimize grain boundary resistance, making it a promising solid-state electrolyte candidate for all-solid-state Na-ion battery applications. On the basis of density functional theory, nudged elastic band, and molecular dynamics investigations, we demonstrate that the framework of cubic Na 3PSe 4 only permits rapid Na + diffusion with the presence of defects, and that the formation of the Na vacancy (charge-balanced by slight Se 2– oxidation) is more energetically favorable among the various defects considered. This finding provides important guidelines to further improve Na-ion conductivity in this class of materials.« less

Expression profile of circular RNAs in infantile hemangioma detected by RNA-Seq.

PubMed

Li, Jun; Li, Qian; Chen, Ling; Gao, Yanli; Li, Jingyun

2018-05-01

Circular RNAs (circRNAs) have emerged as a novel class of widespread non-coding RNAs, and they play crucial roles in various biological processes. However, the characterization and function of circRNAs in infantile hemangioma (IH) remain elusive. In this study, we used RNA-Seq and circRNA prediction to study and characterize the circRNAs in IH tissue and a matched normal skin control. Specific circRNAs were verified using real-time polymerase chain reaction. We found that of the 9811 identified circRNAs, 249 candidates were differentially expressed, including 124 upregulated and 125 downregulated circRNAs in the IH group compared with the matched normal skin control group. A set of differentially expressed circRNAs (in particular, hsa_circRNA001885 and hsa_circRNA006612 expression) were confirmed using qRT-PCR. Gene ontology and pathway analysis revealed that compared to matched normal skin tissues, many processes that were over-represented in IH group were related to the binding, protein binding, gap junction, and focal adhesion. Specific circRNAs were associated with several micro-RNAs (miRNAs) predicted using miRanda. Altogether, our findings highlight the potential importance of circRNAs in the biology of IH and its response to treatment.

[Aqueductal stenosis in the neurofibromatosis type 1. Presentation of 19 infantile patients].

PubMed

Pascual-Castroviejo, I; Pascual-Pascual, S I; Velázquez-Fragua, R; Viaño, J; Carceller-Benito, F

To present a series of infantile patients with aqueductal stenosis associated with neurofibromatosis type 1 (NF1). Nineteen patients with ages below 16 years, 11 girls and 8 boys, with NF1 presented hydrocephalus due to aqueductal stenosis. All patients, except one who died before the imaging study was performed and was diagnosed by autopsy, were studied by pneumoencephalography (since 1965 to 1974), computerized tomography (CT) (since 1975 to 1984), magnetic resonance (MR) or MR and CT (since 1985 to 2004) (two children had been studied by pneumoencephalography some years before) most times to discard optic pathway tumor and, in few patients, because of intracranial hypertension. All patients showed three ventricular hydrocephalus with aqueductal stenosis. Eleven patients showed optic pathway tumor. One patient had a benign aqueductal tumor that impaired the normal flow of cerebrospinal fluid. Neurological features of hydrocephalus occurred very rapidly in some patients and after several years of evolution in others. Two boys showed precocious puberty. All patients were treated with shunt. In our series, aqueductal stenosis occurred in about 5% of children with NF1. Aqueductal stenosis and hydrocephalus were identified at a short age because many patients were studied suspecting optic pathway tumor. Eleven patients (about 60%) associated optic pathway tumor and aqueductal stenosis.

Quasi-solid state rechargeable Na-CO2 batteries with reduced graphene oxide Na anodes.

PubMed

Hu, Xiaofei; Li, Zifan; Zhao, Yaran; Sun, Jianchao; Zhao, Qing; Wang, Jianbin; Tao, Zhanliang; Chen, Jun

2017-02-01

Na-CO 2 batteries using earth-abundant Na and greenhouse gas CO 2 are promising tools for mobile and stationary energy storage, but they still pose safety risks from leakage of liquid electrolyte and instability of the Na metal anode. These issues result in extremely harsh operating conditions of Na-CO 2 batteries and increase the difficulty of scaling up this technology. We report the development of quasi-solid state Na-CO 2 batteries with high safety using composite polymer electrolyte (CPE) and reduced graphene oxide (rGO) Na anodes. The CPE of PVDF-HFP [poly(vinylidene fluoride- co -hexafluoropropylene)]-4% SiO 2 /NaClO 4 -TEGDME (tetraethylene glycol dimethyl ether) has high ion conductivity (1.0 mS cm -1 ), robust toughness, a nonflammable matrix, and strong electrolyte-locking ability. In addition, the rGO-Na anode presents fast and nondendritic Na + plating/stripping (5.7 to 16.5 mA cm -2 ). The improved kinetics and safety enable the constructed rGO-Na/CPE/CO 2 batteries to successfully cycle in wide CO 2 partial pressure window (5 to 100%, simulated car exhaust) and especially to run for 400 cycles at 500 mA g -1 with a fixed capacity of 1000 mA·hour g -1 in pure CO 2 . Furthermore, we scaled up the reversible capacity to 1.1 A·hour in pouch-type batteries (20 × 20 cm, 10 g, 232 Wh kg -1 ). This study makes quasi-solid state Na-CO 2 batteries an attractive prospect.

Quasi–solid state rechargeable Na-CO2 batteries with reduced graphene oxide Na anodes

PubMed Central

Hu, Xiaofei; Li, Zifan; Zhao, Yaran; Sun, Jianchao; Zhao, Qing; Wang, Jianbin; Tao, Zhanliang; Chen, Jun

2017-01-01

Na-CO2 batteries using earth-abundant Na and greenhouse gas CO2 are promising tools for mobile and stationary energy storage, but they still pose safety risks from leakage of liquid electrolyte and instability of the Na metal anode. These issues result in extremely harsh operating conditions of Na-CO2 batteries and increase the difficulty of scaling up this technology. We report the development of quasi–solid state Na-CO2 batteries with high safety using composite polymer electrolyte (CPE) and reduced graphene oxide (rGO) Na anodes. The CPE of PVDF-HFP [poly(vinylidene fluoride-co-hexafluoropropylene)]–4% SiO2/NaClO4–TEGDME (tetraethylene glycol dimethyl ether) has high ion conductivity (1.0 mS cm−1), robust toughness, a nonflammable matrix, and strong electrolyte-locking ability. In addition, the rGO-Na anode presents fast and nondendritic Na+ plating/stripping (5.7 to 16.5 mA cm−2). The improved kinetics and safety enable the constructed rGO-Na/CPE/CO2 batteries to successfully cycle in wide CO2 partial pressure window (5 to 100%, simulated car exhaust) and especially to run for 400 cycles at 500 mA g−1 with a fixed capacity of 1000 mA·hour g−1 in pure CO2. Furthermore, we scaled up the reversible capacity to 1.1 A·hour in pouch-type batteries (20 × 20 cm, 10 g, 232 Wh kg−1). This study makes quasi–solid state Na-CO2 batteries an attractive prospect. PMID:28164158

High-resolution molecular-beam spectroscopy of NaCN and Na 13CN

NASA Astrophysics Data System (ADS)

van Vaals, J. J.; Meerts, W. Leo; Dymanus, A.

The sodium cyanide molecule was studied by molecular-beam electric-resonance spectroscopy in the microwave region. We used the seeded-beam technique to produce a supersonic beam with strong translational, rotational and vibrational cooling. In the frequency range 9.5-40 GHz we observed and identified for NaCN 186 and for Na 13CN 107 hyperfine transitions in 20 and 16 rotational transitions, respectively, all in the ground vibrational state. The rotational, the five quartic and three sextic centrifugal distortion constants of NaCN are: A″ = 57921.954(7) MHz; B″ = 8369.312(2) MHz, C″ = 7272.712(2) MHz. All quadrupole and several spin-rotation coupling constants for the hyperfine interaction were evaluated. The quadrupole coupling constants (in MHz) for NaCN are: eQq12(Na) = -5.344(5), eQq12 = 2.397(7). eQq12(N) = 2.148(4), eQq12(N) = -4.142(5). From these constants and those of Na 13CN we have determined the principal components of the quadrupole coupling tensor for potassium and nitrogen. The structure of sodium cyanide evaluated from the rotational constants of NaCN and Na 13CN was found to be T shaped, similar to the structure of KCN but completely different from the linear isocyanide configuration of LiNC. The effective structural parameters for sodium cyanide in the ground vibrational state are: rCN = 1.170(4) Å, rNaC = 2.379(15) Å, rN12N = 2.233(15) Å, in gratifying agreement with ab initio calculations. Both the geometrical structure and the hyperfine coupling justify the conclusion that the CN group in gaseous sodium cyanide approximately can be considered as a free CN - ion.

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.

PubMed

Pichiecchio, Anna; Rossi, Marta; Cinnante, Claudia; Colafati, Giovanna Stefania; De Icco, Roberto; Parini, Rossella; Menni, Francesca; Furlan, Francesca; Burlina, Alberto; Sacchini, Michele; Donati, Maria Alice; Fecarotta, Simona; Casa, Roberto Della; Deodato, Federica; Taurisano, Roberta; Di Rocco, Maja

2017-06-01

The aim of this study was to evaluate the muscle MRI pattern of 9 patients (median age: 6.5 ± 2.74 years) affected by classic infantile-onset Pompe disease who were treated with enzyme replacement therapy. We performed and qualitatively scored T1-weighted (T1-w) sequences of the facial, shoulder girdle, paravertebral, and lower limb muscles and short-tau inversion recovery (STIR) sequences of the lower limbs using the Mercuri and Morrow scales, respectively. On T1-w images, mild (grade 1) or moderate (grade 2) involvement was found in the tongue in 6 of 6 patients and in the adductor magnus muscle in 6 of 9. STIR hyperintensity was detected in all areas examined and was categorized as limited to mild in 5 of 8 patients. On T1-w sequences, mild/moderate adipose substitution in the adductor magnus and tongue muscles was documented. STIR edema-like alterations of thigh and calf muscles are novel findings. Correlations with biopsy findings and clinical parameters are needed to fully understand these findings. Muscle Nerve 55: 841-848, 2017. © 2016 Wiley Periodicals, Inc.

Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.

PubMed

Okuda, Hiroko; Noguchi, Atsuko; Kobayashi, Hatasu; Kondo, Daiki; Harada, Kouji H; Youssefian, Shohab; Shioi, Hirotomo; Kabata, Risako; Domon, Yuki; Kubota, Kazufumi; Kitano, Yutaka; Takayama, Yasunori; Hitomi, Toshiaki; Ohno, Kousaku; Saito, Yoshiaki; Asano, Takeshi; Tominaga, Makoto; Takahashi, Tsutomu; Koizumi, Akio

2016-01-01

Painful peripheral neuropathy has been correlated with various voltage-gated sodium channel mutations in sensory neurons. Recently Nav1.9, a voltage-gated sodium channel subtype, has been established as a genetic influence for certain peripheral pain syndromes. In this study, we performed a genetic study in six unrelated multigenerational Japanese families with episodic pain syndrome. Affected participants (n = 23) were characterized by infantile recurrent pain episodes with spontaneous mitigation around adolescence. This unique phenotype was inherited in an autosomal-dominant mode. Linkage analysis was performed for two families with 12 affected and nine unaffected members, and a single locus was identified on 3p22 (LOD score 4.32). Exome analysis (n = 14) was performed for affected and unaffected members in these two families and an additional family. Two missense variants were identified: R222H and R222S in SCN11A. Next, we generated a knock-in mouse model harboring one of the mutations (R222S). Behavioral tests (Hargreaves test and cold plate test) using R222S and wild-type C57BL/6 (WT) mice, young (8-9 weeks old; n = 10-12 for each group) and mature (36-38 weeks old; n = 5-6 for each group), showed that R222S mice were significantly (p < 0.05) more hypersensitive to hot and cold stimuli than WT mice. Electrophysiological studies using dorsal root ganglion neurons from 8-9-week-old mice showed no significant difference in resting membrane potential, but input impedance and firing frequency of evoked action potentials were significantly increased in R222S mice compared with WT mice. However, there was no significant difference among Nav1.9 (WT, R222S, and R222H)-overexpressing ND7/23 cell lines. These results suggest that our novel mutation is a gain-of-function mutation that causes infantile familial episodic pain. The mouse model developed here will be useful for drug screening for familial episodic pain syndrome associated with SCN11A mutations.

Synthesis of zeolites Na-A and Na-X from tablet compressed and calcinated coal fly ash

NASA Astrophysics Data System (ADS)

Hu, Tao; Gao, Wenyan; Liu, Xin; Zhang, Yifu; Meng, Changgong

2017-10-01

Zeolites Na-A and Na-X are important synthetic zeolites widely used for separation and adsorption in industry. It is of great significance to develop energy-efficient routines that can synthesize zeolites Na-A and Na-X from low-cost raw materials. Coal fly ash (CFA) is the major residue from the combustion of coal and biomass containing more than 85% SiO2 and Al2O3, which can readily replace the conventionally used sodium silicate and aluminate for zeolite synthesis. We used Na2CO3 to replace the expensive NaOH used for the calcination of CFA and showed that tablet compression can enhance the contact with Na2CO3 for the activation of CFA through calcination for the synthesis of zeolites Na-A and Na-X under mild conditions. We optimized the control variables for zeolite synthesis and showed that phase-pure zeolite Na-A can be synthesized with CFA at reactant molar ratio, hydrothermal reaction temperature and reaction time of 1.3Na2O: 0.6Al2O3: 1SiO2: 38H2O at 80°C for 6 h, respectively, while phase-pure zeolite Na-X can be synthesized at 2.2Na2O: 0.2Al2O3: 1SiO2: 88H2O at 100°C for 8 h, respectively. The composition, morphology, specific surface area, vibration spectrum and thermogravimetry of synthesized Na-A and Na-X were further characterized.

Structural and Na-ion conduction characteristics of Na 3 PS x Se 4-x

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

Bo, Shou-Hang; Wang, Yan; Ceder, Gerbrand

The recent discovery of the isostructrual cubic Na 3PS 4 and Na 3PSe 4 as fast Na-ion conductors provided a general structural framework for the exploration of new sodium superionic conductors. In this work, we systematically investigated the structures and ionic conduction characteristics of a series of compounds with the general chemical formula of Na 3PS xSe 4-x. Synthesis of Na 3PS 4 under different conditions (e.g., temperature, reaction vessel, mass of the precursors) reveals the reactivity of the precursors with the reaction tubes, producing different polymorphs. X-ray diffraction studies on the solid solution phases Na 3PS xSe 4-x more » identified a tetragonal-to-cubic phase transition with increasing Se concentration. This observation is consistent with the computed stability of the tetragonal and cubic polymorphs, where the energy difference between the two polymorphs becomes very close to zero in Se-rich compositions. Furthermore, ab initio molecular dynamic simulations suggest that the fast Na-ion conduction in Na 3PS xSe 4-x may not be causally related with the symmetry or the composition of these phases. The formation of defects, instead, enables fast Na-ion conduction in this class of materials.« less

Serial Casting for Infantile Idiopathic Scoliosis: Radiographic Outcomes and Factors Associated With Response to Treatment.

PubMed

Iorio, Justin; Orlando, Giuseppe; Diefenbach, Chris; Gaughan, John P; Samdani, Amer F; Pahys, Joshua M; Betz, Randal R; Cahill, Patrick J

Serial casting for early-onset scoliosis has been shown to improve curve deformity. Our goal was to define clinical and radiographic features that determine response to treatment. We retrospectively reviewed patients with idiopathic infantile scoliosis with a minimum of 2-year follow-up. Inclusion criteria were: progressive idiopathic infantile scoliosis and initial casting before 6 years of age. Two groups were analyzed and compared: group 1 (≥10-degree improvement in Cobb angle from baseline) and group 2 (no improvement). Twenty-one patients with an average Cobb angle of 48 degrees (range, 24 to 72 degrees) underwent initial casting at an average age of 2.1 years (range, 0.7 to 5.4 y). Average follow-up was 3.5 years (range, 2 to 6.9 y). Sex, age at initial casting, magnitude of spinal deformity, and curve flexibility (defined as change in Cobb angle from pretreatment to first in-cast radiograph) were not significantly different between groups (P>0.05). Group 1 had a significantly higher body mass index (BMI) than group 2 at the onset of treatment (17.6 vs. 14.8, P<0.05). Univariate analysis of demographic, radiographic, and treatment factors revealed that only BMI was predictive of Cobb improvement (P=0.04; odds ratio=2.38). Group 1 (n=15) had a significantly lower Cobb angle (21 vs. 56 degrees) and rib vertebral angle difference (13 vs. 25 degrees) compared with group 2 at latest follow-up (P<0.05). A significantly larger proportion of children who were casted at less than 1.8 years of age had a Cobb angle <20 degrees at latest follow-up (P=0.03). Group 2 maintained stable clinical and radiograph parameters from pretreatment to most recent follow-up. To maintain a homogeneous cohort, we excluded patients with syndromes and developmental delays. We believe that analyzing a homogeneous group provides more meaningful results than if we studied a heterogeneous sample. BMI was significantly associated with outcome such that for each unit increase in BMI, there is

Formation of Si grains from a NaSi melt prepared by reaction of SiO2 and Na

NASA Astrophysics Data System (ADS)

Yamane, Hisanori; Morito, Haruhiko; Uchikoshi, Masahito

2013-08-01

A mixture of Na2SiO3 and NaSi was found to be formed by reaction of SiO2 and Na at 650 °C as follows: 5Na+3SiO2→2Na2SiO3+NaSi. Single crystals of NaSi were grown by cooling the mixture of Na2SiO3 and NaSi with an excess amount of Na from 850 °C, and polycrystalline Si was obtained by vaporization of Na from the crystals. Coarse grains of Si were also crystallized by Na evaporation after the formation of Na2SiO3 and Si-dissolved liquid Na at 830 °C. The Si grains were collected by washing the product with water. The yield of the Si grains was 85% of the ideal amount expected from the reaction.

[Prevention rather than cure: the emergence and first stage of the Centros de Higiene Infantil in Mexico City, 1922-1932].

PubMed

Alanís, Mercedes

2015-01-01

This article deals with the main features of the emergence and first ten years of the Centros de Higiene Infantil, facilities run by the Departamento de Salubridad Pública from 1922 on in Mexico City with the goal of providing care for mothers from pregnancy onwards and children from birth to two years of age. It reviews the actions that gave rise to this project and how it became established. It analyzes the structure of these centers, the characteristics of the mothers and children seen there and the functions performed by doctors and nurses, stressing the notion of preventing childhood illnesses, and ends with a first assessment of the effects and limitations of these centers.

The changing epidemiology of infantile hypertrophic pyloric stenosis in Scotland.

PubMed

Sommerfield, T; Chalmers, J; Youngson, G; Heeley, C; Fleming, M; Thomson, G

2008-12-01

The aetiology of infantile hypertrophic pyloric stenosis (IHPS) has not been fully elucidated. Since the 1990s, a sharp decline in IHPS has been reported in various countries. Recent research from Sweden reported a correlation between falling rates of IHPS and of sudden infant death syndrome (SIDS). This was attributed to a reduction in the number of infants sleeping in the prone position following the "Back to Sleep" campaign. To describe the changing epidemiology of IHPS in Scotland, to examine the relationship between IHPS and SIDS rates and to examine trends in other factors that may explain the observed reduction in IHPS incidence. Incidence rates of IHPS and SIDS were derived from routine data and their relationship analysed. Trends in mean maternal age, maternal smoking, mean birth weight and breastfeeding rates were also examined. The whole of Scotland between 1981 and 2004. IHPS incidence fell from 4.4 to 1.4 per 1000 live births in Scotland between 1981 and 2004. Rates were consistently higher in males, although the overall incidence patterns in males and females were similar. Rates showed a positive relationship with deprivation. The fall in the incidence of IHPS preceded the fall in SIDS by 2 years and the incidence of SIDS displayed less variability than that of IHPS. Significant temporal trends were also observed in other maternal and infant characteristics. There has been a marked reduction in Scotland's IHPS incidence, but this is unlikely to be a consequence of a change in infant sleeping position.

Quick Phases of Infantile Nystagmus Show the Saccadic Inhibition Effect

PubMed Central

Harrison, James J.; Sumner, Petroc; Dunn, Matt J.; Erichsen, Jonathan T.; Freeman, Tom C. A.

2015-01-01

Purpose. Infantile nystagmus (IN) is a pathological, involuntary oscillation of the eyes consisting of slow, drifting eye movements interspersed with rapid reorienting quick phases. The extent to which quick phases of IN are programmed similarly to saccadic eye movements remains unknown. We investigated whether IN quick phases exhibit ‘saccadic inhibition,' a phenomenon typically related to normal targeting saccades, in which the initiation of the eye movement is systematically delayed by task-irrelevant visual distractors. Methods. We recorded eye position from 10 observers with early-onset idiopathic nystagmus while task-irrelevant distractor stimuli were flashed along the top and bottom of a large screen at ±10° eccentricity. The latency distributions of quick phases were measured with respect to these distractor flashes. Two additional participants, one with possible albinism and one with fusion maldevelopment nystagmus syndrome, were also tested. Results. All observers showed that a distractor flash delayed the execution of quick phases that would otherwise have occurred approximately 100 ms later, exactly as in the standard saccadic inhibition effect. The delay did not appear to differ between the two main nystagmus types under investigation (idiopathic IN with unidirectional and bidirectional jerk). Conclusions. The presence of the saccadic inhibition effect in IN quick phases is consistent with the idea that quick phases and saccades share a common programming pathway. This could allow quick phases to take on flexible, goal-directed behavior, at odds with the view that IN quick phases are stereotyped, involuntary eye movements. PMID:25670485

The relative viscosity of NaNO 3 and NaNO 2 aqueous solutions

DOE PAGES

Reynolds, Jacob G.; Mauss, Billie M.; Daniel, Richard C.

2018-05-09

In aqueous solution, both nitrate and nitrite are planar, monovalent, and have the same elements but different sizes and charge densities. Comparing the viscosity of NaNO 2 and NaNO 3 aqueous solutions provides an opportunity to determine the relative importance of anion size versus strength of anion interaction with water. The viscosity of aqueous NaNO 2 and NaNO 3 were measured over a temperature and concentration range relevant to nuclear waste processing. The viscosity of NaNO 2 solutions was consistently larger than NaNO 3 under all conditions, even though nitrate is larger than nitrite. This was interpreted in terms ofmore » quantum mechanical charge field molecular dynamics calculations that indicate that nitrite forms more and stronger hydrogen bonds with water per oxygen atom than nitrate. Furthermore, these hydrogen bonds inhibit rotational motion required for fluid flow, thus increasing the nitrite solution viscosity relative to that of an equivalent nitrate solution.« less

The relative viscosity of NaNO 3 and NaNO 2 aqueous solutions

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

Reynolds, Jacob G.; Mauss, Billie M.; Daniel, Richard C.

In aqueous solution, both nitrate and nitrite are planar, monovalent, and have the same elements but different sizes and charge densities. Comparing the viscosity of NaNO 2 and NaNO 3 aqueous solutions provides an opportunity to determine the relative importance of anion size versus strength of anion interaction with water. The viscosity of aqueous NaNO 2 and NaNO 3 were measured over a temperature and concentration range relevant to nuclear waste processing. The viscosity of NaNO 2 solutions was consistently larger than NaNO 3 under all conditions, even though nitrate is larger than nitrite. This was interpreted in terms ofmore » quantum mechanical charge field molecular dynamics calculations that indicate that nitrite forms more and stronger hydrogen bonds with water per oxygen atom than nitrate. Furthermore, these hydrogen bonds inhibit rotational motion required for fluid flow, thus increasing the nitrite solution viscosity relative to that of an equivalent nitrate solution.« less

Na/beta-alumina/NaAlCl4, Cl2/C circulating cell

NASA Technical Reports Server (NTRS)

Cherng, Jing-Yih; Bennion, Douglas N.

1987-01-01

A study was made of a high specific energy battery based on a sodium negative electrode and a chlorine positive electrode with molten AlCl3-NaCl electrolyte and a solid beta alumina separator. The basic performance of a Na beta-alumina NaAlCl4, Cl2/C circulating cell at 200 C was demonstrated. This cell can be started at 150 C. The use of melting sodium chloroaluminate electrolyte overcomes some of the material problems associated with the high working temperatures of present molten salt systems, such as Na/S and LiAl/FeS, and retains the advantages of high energy density and relatively efficient electrode processes. Preliminary investigations were conducted on a sodium-chlorine static cell, material compability, electrode design, wetting, and theoretical calculations to assure a better chance of success before assembling a Na/Cl2 circulating cell. Mathematical models provide a theoretical explanation for the performance of the NaCl2 battery. The results of mathematical models match the experimental results very well. According to the result of the mathematical modeling, an output at 180 mA/sq cm and 3.2 V can be obtained with optimized cell design.

NA62 and NA48/2 results on search for Heavy Neutral Leptons

NASA Astrophysics Data System (ADS)

Lamanna, Gianluca; Aliberti, R.; Ambrosino, F.; Ammendola, R.; Angelucci, B.; Antonelli, A.; Anzivino, G.; Arcidiacono, R.; Barbanera, M.; Biagioni, A.; Bician, L.; Biino, C.; Bizzeti, A.; Blazek, T.; Bloch-Devaux, B.; Bonaiuto, V.; Boretto, M.; Bragadireanu, M.; Britton, D.; Brizioli, F.; Brunetti, M. B.; Bryman, D.; Bucci, F.; Capussela, T.; Ceccucci, A.; Cenci, P.; Cerny, V.; Cerri, C.; Checcucci, B.; Conovaloff, A.; Cooper, P.; Cortina Gil, E.; Corvino, M.; Costantini, F.; Cotta Ramusino, A.; Coward, D.; D'Agostini, G.; Dainton, J.; Dalpiaz, P.; Danielsson, H.; De Simone, N.; Di Filippo, D.; Di Lella, L.; Doble, N.; Dobrich, B.; Duval, F.; Duk, V.; Engelfried, J.; Enik, T.; Estrada-Tristan, N.; Falaleev, V.; Fantechi, R.; Fascianelli, V.; Federici, L.; Fedotov, S.; Filippi, A.; Fiorini, M.; Fry, J.; Fu, J.; Fucci, A.; Fulton, L.; Gamberini, E.; Gatignon, L.; Georgiev, G.; Ghinescu, S.; Gianoli, A.; Giorgi, M.; Giudici, S.; Gonnella, F.; Goudzovski, E.; Graham, C.; Guida, R.; Gushchin, E.; Hahn, F.; Heath, H.; Husek, T.; Hutanu, O.; Hutchcroft, D.; Iacobuzio, L.; Iacopini, E.; Imbergamo, E.; Jenninger, B.; Kampf, K.; Kekelidze, V.; Kholodenko, S.; Khoriauli, G.; Khotyantsev, A.; Kleimenova, A.; Korotkova, A.; Koval, M.; Kozhuharov, V.; Kucerova, Z.; Kudenko, Y.; Kunze, J.; Kurochka, V.; Kurshetsov, V.; Lanfranchi, G.; Lamanna, G.; Latino, G.; Laycock, P.; Lazzeroni, C.; Lenti, M.; Lehmann Miotto, G.; Leonardi, E.; Lichard, P.; Litov, L.; Lollini, R.; Lomidze, D.; Lonardo, A.; Lubrano, P.; Lupi, M.; Lurkin, N.; Madigozhin, D.; Mannelli, I.; Mannocchi, G.; Mapelli, A.; Marchetto, F.; Marchevski, R.; Martellotti, S.; Massarotti, P.; Massri, K.; Maurice, E.; Medvedeva, M.; Mefodev, A.; Menichetti, E.; Migliore, E.; Minucci, E.; Mirra, M.; Misheva, M.; Molokanova, N.; Moulson, M.; Movchan, S.; Napolitano, M.; Neri, I.; Newson, F.; Norton, A.; Noy, M.; Numao, T.; Obraztsov, V.; Ostankov, A.; Padolski, S.; Page, R.; Palladino, V.; Parkinson, C.; Pedreschi, E.; Pepe, M.; Perrin-Terrin, M.; Peruzzo, L.; Petrov, P.; Petrucci, F.; Piandani, R.; Piccini, M.; Pinzino, J.; Polenkevich, I.; Pontisso, L.; Potrebenikov, Yu.; Protopopescu, D.; Raggi, M.; Romano, A.; Rubin, P.; Ruggiero, G.; Ryjov, V.; Salamon, A.; Santoni, C.; Saracino, G.; Sargeni, F.; Semenov, V.; Sergi, A.; Shaikhiev, A.; Shkarovskiy, S.; Soldi, D.; Sougonyaev, V.; Sozzi, M.; Spadaro, T.; Spinella, F.; Sturgess, A.; Swallow, J.; Trilov, S.; Valente, P.; Velghe, B.; Venditti, S.; Vicini, P.; Volpe, R.; Vormstein, M.; Wahl, H.; Wanke, R.; Wrona, B.; Yushchenko, O.; Zamkovsky, M.; Zinchenko, A.

2018-05-01

In this paper we present new results on upper limits for the search of Heavy Neutral Leptons (HNL) with data collected by NA48/2 (2003-2004), NA62-RK (2007) and NA62 (2015) CERN experiments. The data collected with different trigger configuration allow to search for both long and short living heavy neutrinos in the mass range below the kaon mass. In addition the status of the search for K+ → π+vv with the NA62 detector will be briefly presented.

Physiological responses to salt stress of salt-adapted and directly salt (NaCl and NaCl+Na2SO4 mixture)-stressed cyanobacterium Anabaena fertilissima.

PubMed

Swapnil, Prashant; Rai, Ashwani K

2018-05-01

Soil salinity in nature is generally mixed type; however, most of the studies on salt toxicity are performed with NaCl and little is known about sulfur type of salinity (Na 2 SO 4 ). Present study discerns the physiologic mechanisms responsible for salt tolerance in salt-adapted Anabaena fertilissima, and responses of directly stressed parent cells to NaCl and NaCl+Na 2 SO 4 mixture. NaCl at 500 mM was lethal to the cyanobacterium, whereas salt-adapted cells grew luxuriantly. Salinity impaired gross photosynthesis, electron transport activities, and respiration in parent cells, but not in the salt-adapted cells, except a marginal increase in PSI activity. Despite higher Na + concentration in the salt mixture, equimolar NaCl appeared more inhibitive to growth. Sucrose and trehalose content and antioxidant activities were maximal in 250 mM NaCl-treated cells, followed by salt mixture and was almost identical in salt-adapted (exposed to 500 mm NaCl) and control cells, except a marginal increase in ascorbate peroxidase activity and an additional fourth superoxide dismutase isoform. Catalase isoform of 63 kDa was induced only in salt-stressed cells. Salinity increased the uptake of intracellular Na + and Ca 2+ and leakage of K + in parent cells, while cation level in salt-adapted cells was comparable to control. Though there was differential increase in intracellular Ca 2+ under different salt treatments, ratio of Ca 2+ /Na + remained the same. It is inferred that stepwise increment in the salt concentration enabled the cyanobacterium to undergo priming effect and acquire robust and efficient defense system involving the least energy.

Infantile Hemangiomas of the Lip: Patterns, Outcomes, and Implications.

PubMed

Yanes, Daniel A; Pearson, Gregory D; Witman, Patricia M

2016-09-01

Infantile hemangiomas of the lip are potentially problematic because of high visibility and risk of disfigurement and ulceration. This study examined sizes, patterns, and locations of lip hemangiomas, their prognostic value, and their implications in hemangioma pathogenesis. Records of 106 patients seen for lip hemangiomas from 2006 to 2013 at Nationwide Children's Hospital were reviewed. Localized hemangiomas were mapped to a location on the lip based on their focus. Size, location, and morphology were assessed with regard to outcome. Poor outcomes were considered to be marked anatomic deformity, scarring, functional complications, and ulceration. Of 72 untreated hemangiomas with discernible outcomes, 92% of segmental lip hemangiomas were associated with poor outcomes, as opposed to 32% of localized hemangiomas (p < 0.001). Localized lip hemangiomas originated from six distinct locations. Localized untreated hemangiomas with poor outcomes were, on average, approximately 2.36 cm(2) larger (95% confidence interval 1.47, 3.25) than those that resolved favorably (p < 0.001); 52% of upper lip untreated hemangiomas and 6% of lower lip hemangiomas had poor outcomes (p = 0.001), and 61% of untreated localized hemangiomas involving the vermilion border and 25% of those that did not had poor outcomes (p = 0.01). Hemangiomas that received early medical or surgical intervention were less likely to have poor outcomes than untreated hemangiomas (p = 0.03). Localized lip hemangiomas occur in distinct locations on the lip that are not random and appear to reflect known models of facial development. Segmental morphology is associated with poor outcomes. In localized hemangiomas, the upper lip is associated with more problematic outcomes than the lower lip. Large size and involvement of the vermilion border are also valuable prognostic indicators associated with poor outcomes. Early intervention in lip hemangiomas is associated with better outcomes. © 2016 Wiley Periodicals, Inc.

MRI Verification of a Case of Huge Infantile Rhabdomyoma.

PubMed

Ramadani, Naser; Kreshnike, Kreshnike Dedushi; Muçaj, Sefedin; Kabashi, Serbeze; Hoxhaj, Astrit; Jerliu, Naim; Bejiçi, Ramush

2016-04-01

Cardiac rhabdomyoma is type of benign myocardial tumor that is the most common fetal cardiac tumor. Cardiac rhabdomyomas are usually detected before birth or during the first year of life. They account for over 60% of all primary cardiac tumors. A 6 month old child with coughing and obstruction in breathing, was hospitalized in the Pediatric Clinic in UCCK, Pristine. The difficulty of breathing was heard and the pathological noise of the heart was noticed from the pediatrician. In the echo of the heart at the posterior and apico-lateral part of the left ventricle a tumoral mass was presented with the dimensions of 56 × 54 mm that forwarded the contractions of the left ventricle, the mass involved also the left ventricle wall and was not vascularized. The right ventricle was deformed and with the shifting of the SIV on the right the contractility was preserved. Aorta, the left arch and AP were normal with laminar circulation. The pericard was presented free. Radiography of thoracic organs was made; it resulted on cardiomegaly and significant bronchovascular drawing. It was completed with an MRI and it resulted on: Cardiomegaly due to large tumoral mass lesion (60×34 mm) involving lateral wall of left ventricle. It was isointense to the muscle on T1W images, markedly hyperintense on T2W images. There were a few septa or bant like hypointensities within lesion. On postcontrast study it showed avid enhancement. The left ventricle volume was decreased. Mild pericardial effusion was also noted. Surgical intervention was performed and it resulted on the histopathological aspect as a huge infantile rhadbomyoma. In most cases no treatment is required and these lesions regress spontaneously. Patients with left ventricular outflow tract obstruction or refractory arrhythmias respond well to surgical excision. Rhabdomyomas are frequently diagnosed by means of fetal echocardiography during the prenatal period.

Results of Casting in Severe Curves in Infantile Scoliosis.

PubMed

Stasikelis, Peter J; Carpenter, Ashley M

2018-04-01

Previous work has demonstrated best results for casting in infantile scoliosis when the curves are small and the child begins casting under 2 years of age. This study examines if casting can delay the need for growth friendly instrumentation in severe curves (50 to 106 degrees) and how the comorbidities of syrinx or genetic syndromes affected outcomes. All children undergoing casting for scoliosis at a single institution over an 8-year period were examined. Inclusion criteria included initial curve at first casting of ≥50 degrees, age ≤3 years at the start of casting, and a minimum follow-up of 3 years. Of 148 children undergoing casting during this period, 44 met our inclusion criteria. All children underwent magnetic resonance imaging. Ten children with a syrinx were identified. Ten children had known genetic syndromes (2 who also had a syrinx). The 26 children without these comorbidities were considered idiopathic. Curve magnitude ranged from 50 to 106 degrees. Nine of the 26 (35%) children in the children with idiopathic curves demonstrated resolution of their curves, while only 3 of the remaining 18 (17%) did. Of the children that did not have resolution of their curves, 14 were maintained over the entire follow-up period to within 15 degrees of their initial curve and 13 were improved 15 degrees or more. Only 5 children had an increase of 15 degrees or more over the follow-up period and 4 of these have undergone growth friendly instrumentation after a mean delay from initial cast of 71 months (range, 18 to 100 mo). This study demonstrates that even in severe curves, casting was effective in delaying instrumentation in all cases, and led to curve resolution of the curves in 12 of 44 children. Level III-case control study.

Vacancy-Controlled Na+ Superion Conduction in Na11 Sn2 PS12.

PubMed

Duchardt, Marc; Ruschewitz, Uwe; Adams, Stefan; Dehnen, Stefanie; Roling, Bernhard

2018-01-26

Highly conductive solid electrolytes are crucial to the development of efficient all-solid-state batteries. Meanwhile, the ion conductivities of lithium solid electrolytes match those of liquid electrolytes used in commercial Li + ion batteries. However, concerns about the future availability and the price of lithium made Na + ion conductors come into the spotlight in recent years. Here we present the superionic conductor Na 11 Sn 2 PS 12 , which possesses a room temperature Na + conductivity close to 4 mS cm -1 , thus the highest value known to date for sulfide-based solids. Structure determination based on synchrotron X-ray powder diffraction data proves the existence of Na + vacancies. As confirmed by bond valence site energy calculations, the vacancies interconnect ion migration pathways in a 3D manner, hence enabling high Na + conductivity. The results indicate that sodium electrolytes are about to equal the performance of their lithium counterparts. © 2018 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.

Experimental and first-principles study of photoluminescent and optical properties of Na-doped CuAlO2: the role of the NaAl-2Na i complex

NASA Astrophysics Data System (ADS)

Liu, Ruijian; Li, Yongfeng; Yao, Bin; Ding, Zhanhui; Deng, Rui; Zhang, Ligong; Zhao, Haifeng; Liu, Lei

2015-08-01

We report that a band-tail emission at 3.08 eV, lower than near-band-edge energy, is observed in photoluminescence measurements of bulk Na-doped CuAlO2. The band-tail emission is attributed to Na-related defects. Electronic structure calculations based on the first-principles method demonstrate that the donor-acceptor compensated complex of NaAl-2Na i in Na-doped CuAlO2 plays a key role in leading to the band-tail emission and bandgap narrowing. Furthermore, Hall effect measurements indicates that the hole concentration in CuAlO2 is independent on Na doping, which is well understood by the donor-acceptor compensation effect of NaAl-2Na i complex.

Structural and Na-ion conduction characteristics of Na 3PS xSe 4–x

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

Bo, Shou -Hang; Wang, Yan; Ceder, Gerbrand

The recent discovery of the isostructrual cubic Na 3PS 4 and Na 3PSe 4 as fast Na-ion conductors provided a general structural framework for the exploration of new sodium superionic conductors. In this work, we systematically investigated the structures and ionic conduction characteristics of a series of compounds with the general chemical formula of Na 3PS xSe 4–x. Synthesis of Na 3PS 4 under different conditions (e.g., temperature, reaction vessel, mass of the precursors) reveals the reactivity of the precursors with the reaction tubes, producing different polymorphs. X-ray diffraction studies on the solid solution phases Na 3PS xSe 4–x identifiedmore » a tetragonal-to-cubic phase transition with increasing Se concentration. This observation is consistent with the computed stability of the tetragonal and cubic polymorphs, where the energy difference between the two polymorphs becomes very close to zero in Se-rich compositions. Furthermore, ab initio molecular dynamic simulations suggest that the fast Na-ion conduction in Na 3PS xSe 4–x may not be causally related with the symmetry or the composition of these phases. The formation of defects, instead, enables fast Na-ion conduction in this class of materials.« less

Structural and Na-ion conduction characteristics of Na 3PS xSe 4–x

DOE PAGES

Bo, Shou -Hang; Wang, Yan; Ceder, Gerbrand

2016-05-19

The recent discovery of the isostructrual cubic Na 3PS 4 and Na 3PSe 4 as fast Na-ion conductors provided a general structural framework for the exploration of new sodium superionic conductors. In this work, we systematically investigated the structures and ionic conduction characteristics of a series of compounds with the general chemical formula of Na 3PS xSe 4–x. Synthesis of Na 3PS 4 under different conditions (e.g., temperature, reaction vessel, mass of the precursors) reveals the reactivity of the precursors with the reaction tubes, producing different polymorphs. X-ray diffraction studies on the solid solution phases Na 3PS xSe 4–x identifiedmore » a tetragonal-to-cubic phase transition with increasing Se concentration. This observation is consistent with the computed stability of the tetragonal and cubic polymorphs, where the energy difference between the two polymorphs becomes very close to zero in Se-rich compositions. Furthermore, ab initio molecular dynamic simulations suggest that the fast Na-ion conduction in Na 3PS xSe 4–x may not be causally related with the symmetry or the composition of these phases. The formation of defects, instead, enables fast Na-ion conduction in this class of materials.« less

Remembering the Chaos - But Life Went on and the Wound Healed. A Four Year Follow Up with Parents having had a Baby with Infantile Colic

PubMed Central

Landgren, Kajsa; Lundqvist, Anita; Hallström, Inger

2012-01-01

Objective: To elucidate parent´s experience of having had a baby with colic four years previously and of how the colic and care influenced the family in a long-term perspective. Methodology and Participants: A qualitative inductive follow-up study with 13 individual and one focus group interview including four parents. Altogether ten mothers and seven fathers representing 12 families, who had been interviewed when they were in the midst of the colicky period four years ago, were in the present study interviewed between December 2010 and May 2011. Parents’ narratives were analysed using content analysis. Results: Parent´s memories of the exhausting colic period were vivid, but when the colic had healed the family relationships also healed. Although it had taken longer time for some parents to attach to their child they now experienced a close relationship with their four year old child and felt confident in their role as parent. The colic scream was still unbearable and evoked negative feelings in the parents. Parents had decreased confidence in Child Health services and made suggestions for improvements in the health care approach. Most of all they wished for an effective treatment of infantile colic. Conclusion: The family relationships were healed and the colic left only few residual symptoms but parents still had decreased confidence in the Child Health Center. Consequently, there is a need to raise awareness to parents’ situation when having a child with infantile colic. PMID:22655001

Treatment of infantile hemangiomas with the 595-nm pulsed dye laser using different pulse widths in an Asian population.

PubMed

Tay, Yong-Kwang; Tan, Siew-Kiang

2012-02-01

The pulsed dye laser (PDL) using varying fluences and pulse durations have been used to treat hemangiomas. This study aims to examine the efficacy and safety of the 595-nm PDL for the treatment of infantile hemangiomas using short (1.5-3 milliseconds) versus long (10 milliseconds) pulse durations and high fluences. This is a retrospective study of patients with hemangiomas (n = 23) treated with the 595-nm PDL from 2003 to 2007. The parameters used for the short pulse duration group (n = 15) were 7-mm spot size, fluence 10-13.5 J/cm(2) and dynamic cooling device (DCD) spray duration of 50 milliseconds and delay of 30 milliseconds. For the long pulse duration group (n = 8), parameters were 7-mm spot size, fluence 10.5-14.5 J/cm(2) and DCD spray duration of 40 milliseconds and delay of 20 milliseconds. The number of treatments required to achieve complete or near complete resolution of the hemangioma ranged from 3 to 14 for the short pulse duration group (mean: 8) and for the long pulse duration group, 4-14 treatments (mean: 9). For both groups, more treatments were needed to achieve clearance of mixed hemangiomas (n = 13) compared to superficial hemangiomas (n = 10) (on average, 4-5 treatments more). Erythema, edema, and purpura lasted for about a week in the short pulse duration group but only 2 days in the long pulse duration group. There was no ulceration or hypertrophic scarring noted in both groups. Both short and long pulse durations using moderately high fluences are equally effective in the treatment of infantile hemangiomas. Shorter pulse durations had a slightly higher incidence of side effects compared to longer pulse duration in our patients with darker phototypes. Hemangiomas are tumors with relatively large diameter blood vessels and this provides the basis for the use of longer pulse durations. Copyright © 2012 Wiley Periodicals, Inc.

A thermochemical explanation for the stability of NaCl3 and NaCl7

NASA Astrophysics Data System (ADS)

Fernandes de Farias, Robson

2017-03-01

Thermodynamically stable cubic and orthorhombic NaCl3 as well as NaCl7 have been synthesized (Zhang et al., 2013). In the present work, a thermochemical explanation for the stability of such unusual sodium chlorides is provided, based on lattice energy values. Using the Glasser-Jenkins generalized equation (Glasser and Jenkins, 2000) lattice energies (kJ mol-1) of -162.5, -168.9 and -113.1 are calculated for Pm3n NaCl3, Pnma NaCl3 and NaCl7, respectively. It is postulated that any NaxCly compound could be synthesized, if the ionic character of the Nasbnd Cl bond in the prepared compound remains around 80%, and the sodium charge below unit.

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.

PubMed

Wray, Carter D; Friederich, Marisa W; du Sart, Desiree; Pantaleo, Sarah; Smet, Joél; Kucera, Cathlin; Fenton, Laura; Scharer, Gunter; Van Coster, Rudy; Van Hove, Johan L K

2013-11-01

New mutations in mitochondrial DNA encoded genes of complex I are rarely reported. An infant developed Leigh disease with infantile spasms. Complex I enzyme activity was deficient and response to increasing coenzyme Q concentrations was reduced. Complex I assembly was intact. A new mutation in MT-ND1 m.3928G>C p.V208L, affecting a conserved amino acid in a critical domain, part of the coenzyme Q binding pocket, was present at high heteroplasmy. The unaffected mother did not carry measurable mutant mitochondrial DNA, but concern remained for gonadal mosaicism. Prenatal testing was possible for a subsequent sibling. The ND1 p.V208L mutation causes Leigh disease. © 2013.

What Infant Memory Tells Us about Infantile Amnesia: Long-Term Recall and Deferred Imitation

PubMed Central

Meltzoff, Andrew N.

2013-01-01

Long-term recall memory was assessed using a nonverbal method requiring subjects to reenact a past event from memory (deferred imitation). A large sample of infants (N = 192), evenly divided between 14- and 16-months old, was tested across two experiments. A delay of 2 months was used in Experiment 1 and a delay of 4 months in Experiment 2. In both experiments two treatment groups were used, In one treatment group, motor practice (immediate imitation) was allowed before the delay was imposed; in the other group, subjects were prevented from motor practice before the delay. Age-matched control groups were used lo assess the spontaneous production of the target acts in the absence of exposure to the model in both experiments. The results demonstrated significant deferred imitation for both treatment groups at both delay intervals, and moreover showed that infants retained and imitated multiple acts. These findings suggest that infants have a nonverbal declarative memory system that supports the recall of past events across long-term delays. The implications of these findings for the multiple memory system debate in cognitive science and neuroscience and for theories of infantile amnesia are considered. PMID:7622990

Long range intermolecular interactions between the alkali diatomics Na2, K2, and NaK

NASA Astrophysics Data System (ADS)

Zemke, Warren T.; Byrd, Jason N.; Michels, H. Harvey; Montgomery, John A.; Stwalley, William C.

2010-06-01

Long range interactions between the ground state alkali diatomics Na2-Na2, K2-K2, Na2-K2, and NaK-NaK are examined. Interaction energies are first determined from ab initio calculations at the coupled-cluster with singles, doubles, and perturbative triples [CCSD(T)] level of theory, including counterpoise corrections. Long range energies calculated from diatomic molecular properties (polarizabilities and dipole and quadrupole moments) are then compared with the ab initio energies. A simple asymptotic model potential ELR=Eelec+Edisp+Eind is shown to accurately represent the intermolecular interactions for these systems at long range.

Route, mechanism, and implications of proton import during Na+/K+ exchange by native Na+/K+-ATPase pumps

PubMed Central

Vedovato, Natascia

2014-01-01

A single Na+/K+-ATPase pumps three Na+ outwards and two K+ inwards by alternately exposing ion-binding sites to opposite sides of the membrane in a conformational sequence coupled to pump autophosphorylation from ATP and auto-dephosphorylation. The larger flow of Na+ than K+ generates outward current across the cell membrane. Less well understood is the ability of Na+/K+ pumps to generate an inward current of protons. Originally noted in pumps deprived of external K+ and Na+ ions, as inward current at negative membrane potentials that becomes amplified when external pH is lowered, this proton current is generally viewed as an artifact of those unnatural conditions. We demonstrate here that this inward current also flows at physiological K+ and Na+ concentrations. We show that protons exploit ready reversibility of conformational changes associated with extracellular Na+ release from phosphorylated Na+/K+ pumps. Reversal of a subset of these transitions allows an extracellular proton to bind an acidic side chain and to be subsequently released to the cytoplasm. This back-step of phosphorylated Na+/K+ pumps that enables proton import is not required for completion of the 3 Na+/2 K+ transport cycle. However, the back-step occurs readily during Na+/K+ transport when external K+ ion binding and occlusion are delayed, and it occurs more frequently when lowered extracellular pH raises the probability of protonation of the externally accessible carboxylate side chain. The proton route passes through the Na+-selective binding site III and is distinct from the principal pathway traversed by the majority of transported Na+ and K+ ions that passes through binding site II. The inferred occurrence of Na+/K+ exchange and H+ import during the same conformational cycle of a single molecule identifies the Na+/K+ pump as a hybrid transporter. Whether Na+/K+ pump–mediated proton inflow may have any physiological or pathophysiological significance remains to be clarified. PMID

Long range intermolecular interactions between the alkali diatomics Na(2), K(2), and NaK.

PubMed

Zemke, Warren T; Byrd, Jason N; Michels, H Harvey; Montgomery, John A; Stwalley, William C

2010-06-28

Long range interactions between the ground state alkali diatomics Na(2)-Na(2), K(2)-K(2), Na(2)-K(2), and NaK-NaK are examined. Interaction energies are first determined from ab initio calculations at the coupled-cluster with singles, doubles, and perturbative triples [CCSD(T)] level of theory, including counterpoise corrections. Long range energies calculated from diatomic molecular properties (polarizabilities and dipole and quadrupole moments) are then compared with the ab initio energies. A simple asymptotic model potential E(LR)=E(elec)+E(disp)+E(ind) is shown to accurately represent the intermolecular interactions for these systems at long range.

Crystal Structure and Autoactivation Pathway of the Precursor Form of Human Tripeptidyl-peptidase 1, the Enzyme Deficient in Late Infantile Ceroid Lipofuscinosis*S⃞

PubMed Central

Guhaniyogi, Jayita; Sohar, Istvan; Das, Kalyan; Stock, Ann M.; Lobel, Peter

2009-01-01

Late infantile neuronal ceroid lipofuscinosis is a fatal childhood neurological disorder caused by a deficiency in the lysosomal protease tripeptidyl-peptidase 1 (TPP1). TPP1 represents the only known mammalian member of the S53 family of serine proteases, a group characterized by a subtilisin-like fold, a Ser-Glu-Asp catalytic triad, and an acidic pH optimum. TPP1 is synthesized as an inactive proenzyme (pro-TPP1) that is proteolytically processed into the active enzyme after exposure to low pH in vitro or targeting to the lysosome in vivo. In this study, we describe an endoglycosidase H-deglycosylated form of TPP1 containing four Asn-linked N-acetylglucosamines that is indistinguishable from fully glycosylated TPP1 in terms of autocatalytic processing of the proform and enzymatic properties of the mature protease. The crystal structure of deglycosylated pro-TPP1 was determined at 1.85 Å resolution. A large 151-residue C-shaped prodomain makes extensive contacts as it wraps around the surface of the catalytic domain with the two domains connected by a 24-residue flexible linker that passes through the substrate-binding groove. The proenzyme structure reveals suboptimal catalytic triad geometry with its propiece linker partially blocking the substrate-binding site, which together serve to prevent premature activation of the protease. Finally, we have identified numerous processing intermediates and propose a structural model that explains the pathway for TPP1 activation in vitro. These data provide new insights into TPP1 function and represent a valuable resource for constructing improved TPP1 variants for treatment of late infantile neuronal ceroid lipofuscinosis. PMID:19038967

Effect of NaNO3 concentration on anodic electrochemical behavior on the Sb surface in NaOH solution

NASA Astrophysics Data System (ADS)

He, Yun-long; Xu, Rui-dong; He, Shi-wei; Chen, Han-sen; Li, Kuo; Zhu, Yun; Shen, Qing-feng

2018-03-01

The effect of NaNO3 concentration on the anodic electrochemical behavior of antimony in 4 M NaOH solution was investigated using cyclic voltammetry (CV) and electrochemical impedance spectroscopy (EIS) analyses. The mechanism of NO 3 - concentration effect on the anodic electrochemical behavior of antimony was proposed, and its availability was confirmed by experimental results. The effect of NaNO3 on the anodic behavior of antimony in NaOH solution can be interpreted as a stepwise formation of different antimony compounds with different NaNO3 concentrations. Metallic antimony is apt to be oxidized into Sb2O3 within the NaNO3 concentration range of 0-0.48 M. NaSbO3 can be found on the antimony surface when the NaNO3 concentration increases gradually. Insoluable NaSbO3 inhibits the anodic oxidation of antimony due to its shielding effect on the mass transport of the reactants and products. Surface morphology and composition were analyzed by X-ray photoelectron spectroscopy (XPS), scanning electronic microscopy (SEM), and electron dispersion spectroscopy (EDS) analyses. Results indicate that the anodic oxidation layer is composed of Sb2O3, NaSbO3, and Sb. The atomic proportion of antimony in the form of NaSbO3 increases with increasing NaNO3 concentration due to the powerful oxidizing property of NaNO3.

Precursor Routes to Complex Ternary Intermetallics: Single-Crystal and Microcrystalline Preparation of Clathrate-I Na8Al8Si38 from NaSi + NaAlSi.

PubMed

Dong, Yongkwan; Chai, Ping; Beekman, Matt; Zeng, Xiaoyu; Tritt, Terry M; Nolas, George S

2015-06-01

Single crystals of the ternary clathrate-I Na8Al8Si38 were synthesized by kinetically controlled thermal decomposition (KCTD), and microcrystalline Na8Al8Si38 was synthesized by spark plasma sintering (SPS) using a NaSi + NaAlSi mixture as the precursor. Na8AlxSi46-x compositions with x ≤ 8 were also synthesized by SPS from precursor mixtures of different ratios. The crystal structure of Na8Al8Si38 was investigated using both Rietveld and single-crystal refinements. Temperature-dependent transport and UV/vis measurements were employed in the characterization of Na8Al8Si38, with diffuse-reflectance measurement indicating an indirect optical gap of 0.64 eV. Our results indicate that, when more than one precursor is used, both SPS and KCTD are effective methods for the synthesis of multinary inorganic phases that are not easily accessible by traditional solid-state synthesis or crystal growth techniques.

On the Stability of NaO2 in Na-O2 Batteries.

PubMed

Liu, Chenjuan; Carboni, Marco; Brant, William R; Pan, Ruijun; Hedman, Jonas; Zhu, Jiefang; Gustafsson, Torbjörn; Younesi, Reza

2018-04-25

Na-O 2 batteries are regarded as promising candidates for energy storage. They have higher energy efficiency, rate capability, and chemical reversibility than Li-O 2 batteries; in addition, sodium is cheaper and more abundant compared to lithium. However, inconsistent observations and instability of discharge products have inhibited the understanding of the working mechanism of this technology. In this work, we have investigated a number of factors that influence the stability of the discharge products. By means of in operando powder X-ray diffraction study, the influence of oxygen, sodium anode, salt, solvent, and carbon cathode were investigated. The Na metal anode and an ether-based solvent are the main factors that lead to the instability and decomposition of NaO 2 in the cell environment. This fundamental insight brings new information on the working mechanism of Na-O 2 batteries.

Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis.

PubMed

Kielar, Catherine; Maddox, Lucy; Bible, Ellen; Pontikis, Charlie C; Macauley, Shannon L; Griffey, Megan A; Wong, Michael; Sands, Mark S; Cooper, Jonathan D

2007-01-01

Infantile neuronal ceroid lipofuscinosis (INCL) is caused by deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1). We have investigated the onset and progression of pathological changes in Ppt1 deficient mice (Ppt1-/-) and the development of their seizure phenotype. Surprisingly, cortical atrophy and neuron loss occurred only late in disease progression but were preceded by localized astrocytosis within individual thalamic nuclei and the progressive loss of thalamic neurons that relay different sensory modalities to the cortex. This thalamic neuron loss occurred first within the visual system and only subsequently in auditory and somatosensory relay nuclei or the inhibitory reticular thalamic nucleus. The loss of granule neurons and GABAergic interneurons followed in each corresponding cortical region, before the onset of seizure activity. These findings provide novel evidence for successive neuron loss within the thalamus and cortex in Ppt1-/- mice, revealing the thalamus as an important early focus of INCL pathogenesis.

Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis

PubMed Central

Kielar, Catherine; Maddox, Lucy; Bible, Ellen; Pontikis, Charlie C; Macauley, Shannon L; Griffey, Megan A; Wong, Michael; Sands, Mark S; Cooper, Jonathan D

2007-01-01

Infantile neuronal ceroid lipofuscinosis (INCL) is caused by deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1). We have investigated the onset and progression of pathological changes in Ppt1-deficient mice (Ppt1−/−) and the development of their seizure phenotype. Surprisingly, cortical atrophy and neuron loss occurred only late in disease progression, but were preceded by localized astrocytosis within individual thalamic nuclei and the progressive loss of thalamic neurons that relay different sensory modalities to the cortex. This thalamic neuron loss occurred first within the visual system and only subsequently in auditory and somatosensory relay nuclei or the inhibitory reticular thalamic nucleus. The loss of granule neurons and GABAergic interneurons followed in each corresponding cortical region, before the onset of seizure activity. These findings provide novel evidence for successive neuron loss within the thalamus and cortex in Ppt1−/− mice, revealing the thalamus as an important early focus of INCL pathogenesis. PMID:17046272

LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.

PubMed

Stowe, Robert C; Sun, Qin; Elsea, Sarah H; Scaglia, Fernando

2018-05-01

Lipoic acid is an essential cofactor for the mitochondrial 2-ketoacid dehydrogenase complexes and the glycine cleavage system. Lipoyltransferase 1 catalyzes the covalent attachment of lipoate to these enzyme systems. Pathogenic variants in LIPT1 gene have recently been described in four patients from three families, commonly presenting with severe lactic acidosis resulting in neonatal death and/or poor neurocognitive outcomes. We report a 2-month-old male with severe lactic acidosis, refractory status epilepticus, and brain imaging suggestive of Leigh disease. Exome sequencing implicated compound heterozygous LIPT1 pathogenic variants. We describe the fifth case of LIPT1 deficiency, whose phenotype progressed to that of an early infantile epileptic encephalopathy, which is novel compared to previously described patients whom we will review. Due to the significant biochemical and phenotypic overlap that LIPT1 deficiency and mitochondrial energy cofactor disorders have with pyruvate dehydrogenase deficiency and/or nonketotic hyperglycinemia, they are and have been presumptively under-diagnosed without exome sequencing. © 2018 Wiley Periodicals, Inc.

Na+/H+ and Na+/NH4+ exchange activities of zebrafish NHE3b expressed in Xenopus oocytes

PubMed Central

Ito, Yusuke; Kato, Akira; Hirata, Taku; Hirose, Shigehisa

2014-01-01

Zebrafish Na+/H+ exchanger 3b (zNHE3b) is highly expressed in the apical membrane of ionocytes where Na+ is absorbed from ion-poor fresh water against a concentration gradient. Much in vivo data indicated that zNHE3b is involved in Na+ absorption but not leakage. However, zNHE3b-mediated Na+ absorption has not been thermodynamically explained, and zNHE3b activity has not been measured. To address this issue, we overexpressed zNHE3b in Xenopus oocytes and characterized its activity by electrophysiology. Exposure of zNHE3b oocytes to Na+-free media resulted in significant decrease in intracellular pH (pHi) and intracellular Na+ activity (aNai). aNai increased significantly when the cytoplasm was acidified by media containing CO2-HCO3− or butyrate. Activity of zNHE3b was inhibited by amiloride or 5-ethylisopropyl amiloride (EIPA). Although the activity was accompanied by a large hyperpolarization of ∼50 mV, voltage-clamp experiments showed that Na+/H+ exchange activity of zNHE3b is electroneutral. Exposure of zNHE3b oocytes to medium containing NH3/NH4+ resulted in significant decreases in pHi and aNai and significant increase in intracellular NH4+ activity, indicating that zNHE3b mediates the Na+/NH4+ exchange. In low-Na+ (0.5 mM) media, zNHE3b oocytes maintained aNai of 1.3 mM, and Na+-influx was observed when pHi was decreased by media containing CO2-HCO3− or butyrate. These results provide thermodynamic evidence that zNHE3b mediates Na+ absorption from ion-poor fresh water by its Na+/H+ and Na+/NH4+ exchange activities. PMID:24401990

The Effect of Gaze Angle on Visual Acuity in Infantile Nystagmus.

PubMed

Dunn, Matt J; Wiggins, Debbie; Woodhouse, J Margaret; Margrain, Tom H; Harris, Christopher M; Erichsen, Jonathan T

2017-01-01

Most individuals with infantile nystagmus (IN) have an idiosyncratic gaze angle at which their nystagmus intensity is minimized. Some adopt an abnormal head posture to use this "null zone," and it has therefore long been assumed that this provides people with nystagmus with improved visual acuity (VA). However, recent studies suggest that improving the nystagmus waveform could have little, if any, influence on VA; that is, VA is fundamentally limited in IN. Here, we examined the impact of the null zone on VA. Visual acuity was measured in eight adults with IN using a psychophysical staircase procedure with reversals at three horizontal gaze angles, including the null zone. As expected, changes in gaze angle affected nystagmus amplitude, frequency, foveation duration, and variability of intercycle foveation position. Across participants, each parameter (except frequency) was significantly correlated with VA. Within any given individual, there was a small but significant improvement in VA (0.08 logMAR) at the null zone as compared with the other gaze angles tested. Despite this, no change in any of the nystagmus waveform parameters was significantly associated with changes in VA within individuals. A strong relationship between VA and nystagmus characteristics exists between individuals with IN. Although significant, the improvement in VA observed within individuals at the null zone is much smaller than might be expected from the occasionally large variations in intensity and foveation dynamics (and anecdotal patient reports of improved vision), suggesting that improvement of other aspects of visual performance may also encourage use of the null zone.

Abdominal Wall Endometriosis: Myofibroblasts as a Possible Evidence of Metaplasia: A Case Report.

PubMed

Ibrahim, Mohamed Gamal; Delarue, Eleonore; Abesadze, Elene; Haas, Matthias; Sehouli, Jalid; Chiantera, Vito; Mechsner, Sylvia

2017-01-01

In this study, we report about a patient with extra-uterine endometriosis (EM) in the abdominal wall muscle with evident metaplasia based on the abundant alpha smooth muscle actin (ASMA)-expressing myofibroblasts. Laparotomy excision of the abdominal wall EM was done following ultrasonographic evidence of a hypodense swelling in the right rectus abdominis, which was confirmed by MRI. Immunohistochemistry staining for ASMA and collagen I was done, with the results confirming that endometriotic stromal cells expressed both. Anterior abdominal wall endometriosis was suspected because of the patient's history of recurrent EM combined with the cyclic nature of symptoms. MRI is useful in determining the extent of the disease. In case of persisting symptoms even under hormonal treatment, surgical excision is mandatory. The expression of both ASMA and collagen I in and around EM lesions supports the notion of the metaplastic process in the course of disease development. © 2016 S. Karger AG, Basel.

Shoot Na+ exclusion and increased salinity tolerance engineered by cell type-specific alteration of Na+ transport in Arabidopsis.

PubMed

Møller, Inge S; Gilliham, Matthew; Jha, Deepa; Mayo, Gwenda M; Roy, Stuart J; Coates, Juliet C; Haseloff, Jim; Tester, Mark

2009-07-01

Soil salinity affects large areas of cultivated land, causing significant reductions in crop yield globally. The Na+ toxicity of many crop plants is correlated with overaccumulation of Na+ in the shoot. We have previously suggested that the engineering of Na+ exclusion from the shoot could be achieved through an alteration of plasma membrane Na+ transport processes in the root, if these alterations were cell type specific. Here, it is shown that expression of the Na+ transporter HKT1;1 in the mature root stele of Arabidopsis thaliana decreases Na+ accumulation in the shoot by 37 to 64%. The expression of HKT1;1 specifically in the mature root stele is achieved using an enhancer trap expression system for specific and strong overexpression. The effect in the shoot is caused by the increased influx, mediated by HKT1;1, of Na+ into stelar root cells, which is demonstrated in planta and leads to a reduction of root-to-shoot transfer of Na+. Plants with reduced shoot Na+ also have increased salinity tolerance. By contrast, plants constitutively expressing HKT1;1 driven by the cauliflower mosaic virus 35S promoter accumulated high shoot Na+ and grew poorly. Our results demonstrate that the modification of a specific Na+ transport process in specific cell types can reduce shoot Na+ accumulation, an important component of salinity tolerance of many higher plants.

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

PubMed Central

Cartault, François; Munier, Patrick; Benko, Edgar; Desguerre, Isabelle; Hanein, Sylvain; Boddaert, Nathalie; Bandiera, Simonetta; Vellayoudom, Jeanine; Krejbich-Trotot, Pascale; Bintner, Marc; Hoarau, Jean-Jacques; Girard, Muriel; Génin, Emmanuelle; de Lonlay, Pascale; Fourmaintraux, Alain; Naville, Magali; Rodriguez, Diana; Feingold, Josué; Renouil, Michel; Munnich, Arnold; Westhof, Eric; Fähling, Michael; Lyonnet, Stanislas; Henrion-Caude, Alexandra

2012-01-01

The human genome is densely populated with transposons and transposon-like repetitive elements. Although the impact of these transposons and elements on human genome evolution is recognized, the significance of subtle variations in their sequence remains mostly unexplored. Here we report homozygosity mapping of an infantile neurodegenerative disease locus in a genetic isolate. Complete DNA sequencing of the 400-kb linkage locus revealed a point mutation in a primate-specific retrotransposon that was transcribed as part of a unique noncoding RNA, which was expressed in the brain. In vitro knockdown of this RNA increased neuronal apoptosis, consistent with the inappropriate dosage of this RNA in vivo and with the phenotype. Moreover, structural analysis of the sequence revealed a small RNA-like hairpin that was consistent with the putative gain of a functional site when mutated. We show here that a mutation in a unique transposable element-containing RNA is associated with lethal encephalopathy, and we suggest that RNAs that harbor evolutionarily recent repetitive elements may play important roles in human brain development. PMID:22411793

Infantile nystagmus syndrome is associated with inefficiency of goal-directed hand movements.

PubMed

Liebrand-Schurink, Joyce; Cox, Ralf F A; van Rens, Ger H M B; Cillessen, Antonius H N; Meulenbroek, Ruud G J; Boonstra, F Nienke

2014-12-23

The effect of infantile nystagmus syndrome (INS) on the efficiency of goal-directed hand movements was examined. We recruited 37 children with INS and 65 control subjects with normal vision, aged 4 to 8 years. Participants performed horizontally-oriented, goal-directed cylinder displacements as if they displaced a low-vision aid. The first 10 movements of 20 back-and-forth displacements in a trial were performed between two visually presented target areas, and the second 10 between remembered target locations (not visible). Motor performance was examined in terms of movement time, endpoint accuracy, and a harmonicity index reflecting energetic efficiency. Compared to the control group, the children with INS performed the cylinder displacements more slowly (using more time), less accurately (specifically in small-amplitude movements), and with less harmonic acceleration profiles. Their poor visual acuity proved to correlate with slower and less accurate movements, but did not correlate with harmonicity. When moving between remembered target locations, the performance of children with INS was less accurate than that of the children with normal vision. In both groups, movement speed and harmonicity increased with age to a similar extent. Collectively, the findings suggest that, in addition to the visuospatial homing-in problems associated with the syndrome, INS is associated with inefficiency of goal-directed hand movements. ( http://www.trialregister.nl number, NTR2380.). Copyright 2015 The Association for Research in Vision and Ophthalmology, Inc.

Ecotoxicological evaluation of three deicers (NaCl, NaFo, CMA)-effect on terrestrial organisms.

PubMed

Robidoux, P Y; Delisle, C E

2001-02-01

The use of chemical deicers such as sodium chloride (NaCl) has increased significantly during the past three decades. Deicers induce metal corrosion and alter the physicochemical properties of soils and water. Environmental damage caused by the use of NaCl has prompted government agencies to find alternative deicers. This article presents a comparative ecotoxicological study of three deicers on soil organisms. Sodium formiate (NaFo) and calcium-magnesium acetate (CMA) are the most interesting commercially available deicers based upon their characteristics and potential toxicity. Organisms used in this study were four species of macrophytes (cress (Lepidium sativum), barley (Ordeum vulgare), red fescue grass (Festuca rubra), Kentucky bluegrass (Poa pratensis)) and an invertebrate (Eisenia fetida). Using standardized and modified methods, the relative toxicity of deicers was CMA < NaFo congruent with NaCl. The results demonstrate that these chemicals could have similar impacts in terrestrial environments since similar quantities of NaFo and greater amounts of CMA are necessary to achieve the same efficiency as NaCl. The toxicity of the tested substances was lower in natural composted soil than in artificial substrate (silica or OECD soil), indicating decreased environmental bioavailability. The response of the organisms changed according to endpoint, species, and soil characteristics (artificial substrate as compared to natural organic soil). The most sensitive endpoint measured was macrophyte growth with Kentucky bluegrass being the most sensitive species. Copyright 2001 Academic Press.

Effects of non-uniform root zone salinity on water use, Na+ recirculation, and Na+ and H+ flux in cotton

PubMed Central

Kong, Xiangqiang; Luo, Zhen; Dong, Hezhong; Eneji, A. Egrinya

2012-01-01

A new split-root system was established through grafting to study cotton response to non-uniform salinity. Each root half was treated with either uniform (100/100 mM) or non-uniform NaCl concentrations (0/200 and 50/150 mM). In contrast to uniform control, non-uniform salinity treatment improved plant growth and water use, with more water absorbed from the non- and low salinity side. Non-uniform treatments decreased Na+ concentrations in leaves. The [Na+] in the ‘0’ side roots of the 0/200 treatment was significantly higher than that in either side of the 0/0 control, but greatly decreased when the ‘0’ side phloem was girdled, suggesting that the increased [Na+] in the ‘0’ side roots was possibly due to transportation of foliar Na+ to roots through phloem. Plants under non-uniform salinity extruded more Na+ from the root than those under uniform salinity. Root Na+ efflux in the low salinity side was greatly enhanced by the higher salinity side. NaCl-induced Na+ efflux and H+ influx were inhibited by amiloride and sodium orthovanadate, suggesting that root Na+ extrusion was probably due to active Na+/H+ antiport across the plasma membrane. Improved plant growth under non-uniform salinity was thus attributed to increased water use, reduced leaf Na+ concentration, transport of excessive foliar Na+ to the low salinity side, and enhanced Na+ efflux from the low salinity root. PMID:22200663

Temperature-dependent formation of NaCl dihydrate in levitated NaCl and sea salt aerosol particles.

PubMed

Peckhaus, Andreas; Kiselev, Alexei; Wagner, Robert; Duft, Denis; Leisner, Thomas

2016-12-28

Recent laboratory studies indicate that the hydrated form of crystalline NaCl is potentially important for atmospheric processes involving depositional ice nucleation on NaCl dihydrate particles under cirrus cloud conditions. However, recent experimental studies reported a strong discrepancy between the temperature intervals where the efflorescence of NaCl dihydrate has been observed. Here we report the measurements of the volume specific nucleation rate of crystalline NaCl in the aqueous solution droplets of pure NaCl suspended in an electrodynamic balance at constant temperature and humidity in the range from 250 K to 241 K. Based on these measurements, we derive the interfacial energy of crystalline NaCl dihydrate in a supersaturated NaCl solution and determined its temperature dependence. Taking into account both temperature and concentration dependence of nucleation rate coefficients, we explain the difference in the observed fractions of NaCl dihydrate reported in the previous studies. Applying the heterogeneous classical nucleation theory model, we have been able to reproduce the 5 K shift of the NaCl dihydrate efflorescence curve observed for the sea salt aerosol particles, assuming the presence of super-micron solid inclusions (hypothetically gypsum or hemihydrate of CaSO 4 ). These results support the notion that the phase transitions in microscopic droplets of supersaturated solution should be interpreted by accounting for the stochastic nature of homogeneous and heterogeneous nucleation and cannot be understood on the ground of bulk phase diagrams alone.

Temperature-dependent formation of NaCl dihydrate in levitated NaCl and sea salt aerosol particles

NASA Astrophysics Data System (ADS)

Peckhaus, Andreas; Kiselev, Alexei; Wagner, Robert; Duft, Denis; Leisner, Thomas

2016-12-01

Recent laboratory studies indicate that the hydrated form of crystalline NaCl is potentially important for atmospheric processes involving depositional ice nucleation on NaCl dihydrate particles under cirrus cloud conditions. However, recent experimental studies reported a strong discrepancy between the temperature intervals where the efflorescence of NaCl dihydrate has been observed. Here we report the measurements of the volume specific nucleation rate of crystalline NaCl in the aqueous solution droplets of pure NaCl suspended in an electrodynamic balance at constant temperature and humidity in the range from 250 K to 241 K. Based on these measurements, we derive the interfacial energy of crystalline NaCl dihydrate in a supersaturated NaCl solution and determined its temperature dependence. Taking into account both temperature and concentration dependence of nucleation rate coefficients, we explain the difference in the observed fractions of NaCl dihydrate reported in the previous studies. Applying the heterogeneous classical nucleation theory model, we have been able to reproduce the 5 K shift of the NaCl dihydrate efflorescence curve observed for the sea salt aerosol particles, assuming the presence of super-micron solid inclusions (hypothetically gypsum or hemihydrate of CaSO4). These results support the notion that the phase transitions in microscopic droplets of supersaturated solution should be interpreted by accounting for the stochastic nature of homogeneous and heterogeneous nucleation and cannot be understood on the ground of bulk phase diagrams alone.

Scintillation efficiency measurement of Na recoils in NaI(Tl) below the DAMA/LIBRA energy threshold

NASA Astrophysics Data System (ADS)

Xu, Jingke; Shields, Emily; Calaprice, Frank; Westerdale, Shawn; Froborg, Francis; Suerfu, Burkhant; Alexander, Thomas; Aprahamian, Ani; Back, Henning O.; Casarella, Clark; Fang, Xiao; Gupta, Yogesh K.; Ianni, Aldo; Lamere, Edward; Lippincott, W. Hugh; Liu, Qian; Lyons, Stephanie; Siegl, Kevin; Smith, Mallory; Tan, Wanpeng; Kolk, Bryant Vande

2015-07-01

The dark matter interpretation of the DAMA modulation signal depends on the NaI(Tl) scintillation efficiency of nuclear recoils. Previous measurements for Na recoils have large discrepancies, especially in the DAMA/LIBRA modulation energy region. We report a quenching effect measurement of Na recoils in NaI(Tl) from 3 to 52 keVnr, covering the whole DAMA/LIBRA energy region for dark matter-Na scattering interpretations. By using a low-energy, pulsed neutron beam, a double time-of-flight technique, and pulse-shape discrimination methods, we obtained the most accurate measurement of this kind for NaI(Tl) to date. The results differ significantly from the DAMA reported values at low energies but fall between the other previous measurements. We present the implications of the new quenching results for the dark matter interpretation of the DAMA modulation signal.

Dynamic polarizabilities and Van der Waals coefficients for alkali atoms Li, Na and alkali dimer molecules Li2, Na2 and NaLi

NASA Astrophysics Data System (ADS)

Mérawa, M.; Dargelos, A.

1998-07-01

The present paper gives an account of investigations of the polarizability of the alkali atoms Li, Na, diatomics homonuclear and heteronuclear Li2, Na2 and NaLi at SCF (Self Consistent Field) level of approximation and at correlated level, using a time Time-Dependent Gauge Invariant method (TDGI). Our static polarizability values agree with the best experimental and theoretical determinations. The Van der Waals C6 coefficients for the atom-atom, atom-dimer and dimer-dimer interactions have been evaluated. Les polarisabilités des atomes alcalins Li, Na, et des molécules diatomiques homonucléaires et hétéronucléaire Li2, Na2 et NaLi, ont été calculées au niveau SCF (Self Consistent Field) et au niveau corrélé à partir d'une méthode invariante de jauge dépendante du temps(TDGI). Nos valeurs des polarisabilités statiques sont en accord avec les meilleurs déterminations expérimentales et théoriques. Les coefficients C6 de Van de Waals pour les interactions atome-atome, atome-dimère et dimère-dimère ont également été évalués.

MRI Verification of a Case of Huge Infantile Rhabdomyoma

PubMed Central

Ramadani, Naser; Kreshnike, Kreshnike Dedushi; Muçaj, Sefedin; Kabashi, Serbeze; Hoxhaj, Astrit; Jerliu, Naim; Bejiçi, Ramush

2016-01-01

Introduction: Cardiac rhabdomyoma is type of benign myocardial tumor that is the most common fetal cardiac tumor. Cardiac rhabdomyomas are usually detected before birth or during the first year of life. They account for over 60% of all primary cardiac tumors. Case report: A 6 month old child with coughing and obstruction in breathing, was hospitalized in the Pediatric Clinic in UCCK, Pristine. The difficulty of breathing was heard and the pathological noise of the heart was noticed from the pediatrician. In the echo of the heart at the posterior and apico-lateral part of the left ventricle a tumoral mass was presented with the dimensions of 56 × 54 mm that forwarded the contractions of the left ventricle, the mass involved also the left ventricle wall and was not vascularized. The right ventricle was deformed and with the shifting of the SIV on the right the contractility was preserved. Aorta, the left arch and AP were normal with laminar circulation. The pericard was presented free. Radiography of thoracic organs was made; it resulted on cardiomegaly and significant bronchovascular drawing. It was completed with an MRI and it resulted on: Cardiomegaly due to large tumoral mass lesion (60×34 mm) involving lateral wall of left ventricle. It was isointense to the muscle on T1W images, markedly hyperintense on T2W images. There were a few septa or bant like hypointensities within lesion. On postcontrast study it showed avid enhancement. The left ventricle volume was decreased. Mild pericardial effusion was also noted. Surgical intervention was performed and it resulted on the histopathological aspect as a huge infantile rhadbomyoma. Conclusion: In most cases no treatment is required and these lesions regress spontaneously. Patients with left ventricular outflow tract obstruction or refractory arrhythmias respond well to surgical excision. Rhabdomyomas are frequently diagnosed by means of fetal echocardiography during the prenatal period. PMID:27147810

Studies of Inelastic Collisions of NaK and NaCs Molecules with Atomic Perturbers

NASA Astrophysics Data System (ADS)

Jones, Joshua A.

We have investigated collisions of NaK molecules in the first excited state [2(A)1Sigma+], with Ar and He collision partners using laser-induced fluorescence spectroscopy (LIF) and polarization-labeling (PL) spectroscopy in a two-step excitation scheme. Additionally, we have investigated collisions of NaCs molecules in the first excited state [2(A)1Sigma +] with Ar and He perturbers using the LIF technique. We use a pump-probe, two-step excitation process. The pump laser prepares the molecule in a particular ro-vibrational (v, J) level in the A state. The probe laser frequency is scanned over transitions to the 31Π in NaK or to the 53Π in NaCs. In addition to observing strong direct lines, we also see weak collisional satellite lines that arise from collisions in the intermediate state that take the molecule from the prepared level (v, J) to level (v, J + Delta J). The ratio of the intensity of the collisional line to the intensity of the direct line in LIF and PL yield information about population and orientation transfer. Our results show a propensity for DeltaJ=even collisions of NaK with Ar and an even stronger propensity for collisions with He. Collisions of NaCs with Ar do not show any such J=even propensity. Preliminary investigations of collisions of NaCs with He seem to indicate a slight J=even propensity. In addition, we observe that rotationally inelastic collisions of excited NaK molecules with potassium atoms destroy almost all of the orientation, while collisions with argon destroy about one third to two thirds and collisions with helium destroy only about zero to one third of the initial orientation.

Endothelial and circulating C19MC microRNAs are biomarkers of infantile hemangioma

PubMed Central

Strub, Graham M.; Kirsh, Andrew L.; Whipple, Mark E.; Kuo, Winston P.; Keller, Rachel B.; Kapur, Raj P.; Majesky, Mark W.; Perkins, Jonathan A.

2016-01-01

Infantile hemangioma (IH) is the most common vascular tumor of infancy, and it uniquely regresses in response to oral propranolol. MicroRNAs (miRNAs) have emerged as key regulators of vascular development and are dysregulated in many disease processes, but the role of miRNAs in IH growth has not been investigated. We report expression of C19MC, a primate-specific megacluster of miRNAs expressed in placenta with rare expression in postnatal tissues, in glucose transporter 1–expressing (GLUT-1–expressing) IH endothelial cells and in the plasma of children with IH. Tissue or circulating C19MC miRNAs were not detectable in patients having 9 other types of vascular anomalies or unaffected children, identifying C19MC miRNAs as the first circulating biomarkers of IH. Levels of circulating C19MC miRNAs correlated with IH tumor size and propranolol treatment response, and IH tissue from children treated with propranolol or from children with partially involuted tumors contained lower levels of C19MC miRNAs than untreated, proliferative tumors, implicating C19MC miRNAs as potential drivers of IH pathogenesis. Detection of C19MC miRNAs in the circulation of infants with IH may provide a specific and noninvasive means of IH diagnosis and identification of candidates for propranolol therapy as well as a means to monitor treatment response. PMID:27660822

Scintillation efficiency measurement of Na recoils in NaI(Tl) below the DAMA/LIBRA energy threshold

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

Xu, Jingke; Shields, Emily; Calaprice, Frank

2015-07-01

The dark matter interpretation of the DAMA modulation signal depends on the NaI(Tl) scintillation efficiency of nuclear recoils. Previous measurements for Na recoils have large discrepancies, especially in the DAMA/LIBRA modulation energy region. We report a quenching effect measurement of Na recoils in NaI(Tl) from 3 to 52 keVnr, covering the whole DAMA/LIBRA energy region for dark matter-Na scattering interpretations. By using a low-energy, pulsed neutron beam, a double time-of-flight technique, and pulse-shape discrimination methods, we obtained the most accurate measurement of this kind for NaI(Tl) to date. The results differ significantly from the DAMA reported values at low energies butmore » fall between the other previous measurements. We present the implications of the new quenching results for the dark matter interpretation of the DAMA modulation signal.« less

Studies of rotationally inelastic collisions of NaK and NaCs with Ar and He perturbers

NASA Astrophysics Data System (ADS)

Jones, J.; Faust, C.; Richter, K.; Wolfe, C. M.; Ashman, S.; Malenda, R. F.; Weiser, P.; Carlus, S.; Fragale, A.; Hickman, A. P.; Huennekens, J.

2013-05-01

We report studies of rotationally inelastic collisions of Ar and He atoms with the molecules NaK and NaCs prepared in various ro-vibrational levels of the A1Σ+ electronic state. We use laser induced fluorescence (LIF) and polarization labeling (PL) spectroscopy in a pump-probe, two step excitation process. The pump excites the molecule to a ro-vibrational level (v , J) in the A state. The probe laser is scanned over transitions to the 31 Π state in NaK or the 53 Π state in NaCs. In addition to strong direct lines, we observe weak satellite lines that arise from collision-induced transitions of the A state level (v , J) to (v , J + ΔJ) . The ratio of intensities of the satellite line to the direct line in LIF and PL yields information about population and orientation transfer. Preliminary results show a strong propensity for collisions with ΔJ =even for NaK; the propensity is larger for He than for Ar. Collisions of NaCs with He show a similar propensity, but collisions of NaCs with Ar do not. Theoretical calculations are also underway. For He-NaK, we have completed potential surface calculations using GAMESS and coupled channel scattering calculations of rotational energy transfer and transfer of orientation. Work supported by NSF and XSEDE.

Clues to NaCN formation

NASA Astrophysics Data System (ADS)

Quintana-Lacaci, G.; Cernicharo, J.; Velilla Prieto, L.; Agúndez, M.; Castro-Carrizo, A.; Fonfría, J. P.; Massalkhi, S.; Pardo, J. R.

2017-11-01

Context. ALMA is providing us essential information on where certain molecules form. Observing where these molecules emission arises from, the physical conditions of the gas, and how this relates with the presence of other species allows us to understand the formation of many species, and to significantly improve our knowledge of the chemistry that occurs in the space. Aims: We studied the molecular distribution of NaCN around IRC +10216, a molecule detected previously, but whose origin is not clear. High angular resolution maps allow us to model the abundance distribution of this molecule and check suggested formation paths. Methods: We modeled the emission of NaCN assuming local thermal equilibrium (LTE) conditions. These profiles were fitted to azimuthal averaged intensity profiles to obtain an abundance distribution of NaCN. Results: We found that the presence of NaCN seems compatible with the presence of CN, probably as a result of the photodissociation of HCN, in the inner layers of the ejecta of IRC +10216. However, similar as for CH3CN, current photochemical models fail to reproduce this CN reservoir. We also found that the abundance peak of NaCN appears at a radius of 3 × 1015 cm, approximately where the abundance of NaCl, suggested to be the parent species, starts to decay. However, the abundance ratio shows that the NaCl abundance is lower than that obtained for NaCN. We expect that the LTE assumption might result in NaCN abundances higher than the real ones. Updated photochemical models, collisional rates, and reaction rates are essential to determine the possible paths of the NaCN formation. Based on observations carried out with ALMA and the IRAM 30 m Telescope. ALMA is a partnership of ESO (representing its member states), NSF (USA) and NINS (Japan), together with NRC (Canada) and NSC and ASIAA (Taiwan), in cooperation with the Republic of Chile. The Joint ALMA Observatory is operated by ESO, AUI/NRAO and NAOJ. IRAM is supported by INSU/CNRS (France

Study on Na layer response to geomagnetic activities based on Odin/OSIRIS Na density data

NASA Astrophysics Data System (ADS)

Tsuda, Takuo; Nakamura, Takuji; Hedin, Jonas; Gumbel, Jorg; Hosokawa, Keisuke; Ejiri, Mitsumu K.; Nishiyama, Takanori; Takahashi, Toru

2016-07-01

The Na layer is normally distributed from 80 to 110 km, and the height range is corresponding to the ionospheric D and E region. In the polar region, the energetic particles precipitating from the magnetosphere can often penetrate into the E region and even into the D region. Thus, the influence of the energetic particles to the Na layer is one of interests in the aspect of the atmospheric composition change accompanied with the auroral activity. There are several previous studies in this issue. For example, recently, we have reported an initial result on a clear relationship between the electron density increase (due to the energetic particles) and the Na density decrease from observational data sets obtained by Na lidar, EISCAT VHF radar, and optical instruments at Tromsoe, Norway on 24-25 January 2012. However, all of the previous studies had been carried out based on case studies by ground-based lidar observations. In this study, we have performed, for the first time, statistical analysis using Na density data from 2004 to 2009 obtained with the Optical Spectrograph and InfraRed Imager System (OSIRIS) onboard Odin satellite. In the presentation, we will show relationship between the Na density and geomagnetic activities, and its latitudinal variation. Based on these results, the Na layer response to the energetic particles will be discussed.

Preparation of Al-La Master Alloy by Thermite Reaction in NaF-NaCl-KCl Molten Salt

NASA Astrophysics Data System (ADS)

Jang, Poknam; Li, Hyonmo; Kim, Wenjae; Wang, Zhaowen; Liu, Fengguo

2015-05-01

A NaF-NaCl-KCl ternary system containing La2O3 was investigated for the preparation of Al-La master alloy by the thermite reaction method. The solubility of La2O3 in NaF-NaCl-KCl molten salt was determined by the method of isothermal solution saturation. Inductively coupled plasma-optical emission spectroscopy and x-ray diffraction (XRD) analyses were used to consider the content of La2O3 in molten salt and the supernatant composition of molten salt after dissolution of La2O3, respectively. The results showed that the content of NaF had a positive influence on the solubility of La2O3 in NaF-NaCl-KCl molten salts, and the solubility of La2O3 could reach 8.71 wt.% in molten salts of 50 wt.%NaF-50 wt.% (44 wt.%NaCl + 56 wt.%KCl). The XRD pattern of cooling molten salt indicated the formation of LaOF in molten salt, which was probably obtained by the reaction between NaF and La2O3. The kinetic study showed that the thermite reaction was in accord with a first-order reaction model. The main influence factors on La content in the Al-La master alloy product, including molten salt composition, amount of Al, concentration of La2O3, stirring, reduction time and temperature, were investigated by single-factor experimentation. The content of La in the Al-La master alloy could be reached to 10.1 wt.%.

Unidirectional Flux Balance of Monovalent Ions in Cells with Na/Na and Li/Na Exchange: Experimental and Computational Studies on Lymphoid U937 Cells

PubMed Central

Vereninov, Igor A.; Yurinskaya, Valentina E.; Model, Michael A.; Vereninov, Alexey A.

2016-01-01

Monovalent ion traffic across the cell membrane occurs via various pathways. Evaluation of individual fluxes in whole cell is hampered by their strong interdependence. This difficulty can be overcome by computational analysis of the whole cell flux balance. However, the previous computational studies disregarded ion movement of the self-exchange type. We have taken this exchange into account. The developed software allows determination of unidirectional fluxes of all monovalent ions via the major pathways both under the balanced state and during transient processes. We show how the problem of finding the rate coefficients can be solved by measurement of monovalent ion concentrations and some of the fluxes. Interdependence of fluxes due to the mandatory conditions of electroneutrality and osmotic balance and due to specific effects can be discriminated, enabling one to identify specific changes in ion transfer machinery under varied conditions. To test the effectiveness of the developed approach we made use of the fact that Li/Na exchange is known to be an analogue of the coupled Na/Na exchange. Thus, we compared the predicted and experimental data obtained on U937 cells under varied Li+ concentrations and following inhibition of the sodium pump with ouabain. We found that the coupled Na/Na exchange in U937 cells comprises a significant portion of the entire Na+ turnover. The data showed that the loading of the sodium pump by Li/Na exchange involved in the secondary active Li+ transport at 1–10 mM external Li+ is small. This result may be extrapolated to similar Li+ and Na+ flux relationships in erythrocytes and other cells in patients treated with Li+ in therapeutic doses. The developed computational approach is applicable for studying various cells and can be useful in education for demonstrating the effects of individual transporters and channels on ion gradients, cell water content and membrane potential. PMID:27159324

Jahn–Teller Assisted Na Diffusion for High Performance Na Ion Batteries

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

Li, Xin; Wang, Yan; Wu, Di

2016-08-30

Na energy storage technology is strategically attractive for large scale applications such as grid energy storage. Here, we show in this paper that there is a clear relation between the Jahn$-$Teller activity of a transition metal ion at the end of charge and the mobility of Na in a cathode material. This is particularly important as mobility at the end of charge limits the capacity of current materials. Consequently, by using this classical piece of physics in the battery world, it is possible to create higher capacity Na-cathode materials. Even more exciting is that the ideal element to impart thismore » effect on cathodes is Fe, which is the least expensive of the transition metal oxides and can therefore enable low cost cathode materials.« less

Controlled phase stability of highly Na-active triclinic structure in nanoscale high-voltage Na2-2xCo1+xP2O7 cathode for Na-ion batteries

NASA Astrophysics Data System (ADS)

Song, Hee Jo; Kim, Jae-Chan; Dar, Mushtaq Ahmad; Kim, Dong-Wan

2018-02-01

With the increasing demand for high energy density in energy-storage systems, a high-voltage cathode is essential in rechargeable Li-ion and Na-ion batteries. The operating voltage of a triclinic-polymorph Na2CoP2O7, also known as the rose form, is above 4.0 V (vs. Na/Na+), which is relatively high compared to that of other cathode materials. Thus, it can be employed as a potential high-voltage cathode material in Na-ion batteries. However, it is difficult to synthesize a pure rose phase because of its low phase stability, thus limiting its use in high-voltage applications. Herein, compositional-engineered, rose-phase Na2-2xCo1+xP2O7/C (x = 0, 0.1 and 0.2) nanopowder are prepared using a wet-chemical method. The Na2-2xCo1+xP2O7/C cathode shows high electrochemical reactivity with Na ions at 4.0 V, delivering high capacity and high energy density.

Electrogenic Na+/Ca2+ Exchange

PubMed Central

Danaceau, Jonathan P.; Lucero, Mary T.

2000-01-01

Olfactory receptor neurons (ORNs) from the squid, Lolliguncula brevis, respond to the odors l-glutamate or dopamine with increases in internal Ca2+ concentrations ([Ca2+]i). To directly asses the effects of increasing [Ca2+]i in perforated-patched squid ORNs, we applied 10 mM caffeine to release Ca2+ from internal stores. We observed an inward current response to caffeine. Monovalent cation replacement of Na+ from the external bath solution completely and selectively inhibited the caffeine-induced response, and ruled out the possibility of a Ca2+-dependent nonselective cation current. The strict dependence on internal Ca2+ and external Na+ indicated that the inward current was due to an electrogenic Na+/Ca2+ exchanger. Block of the caffeine-induced current by an inhibitor of Na+/Ca2+ exchange (50–100 μM 2′,4′-dichlorobenzamil) and reversibility of the exchanger current, further confirmed its presence. We tested whether Na+/Ca2+ exchange contributed to odor responses by applying the aquatic odor l-glutamate in the presence and absence of 2′,4′-dichlorobenzamil. We found that electrogenic Na+/Ca2+ exchange was responsible for ∼26% of the total current associated with glutamate-induced odor responses. Although Na+/Ca2+ exchangers are known to be present in ORNs from numerous species, this is the first work to demonstrate amplifying contributions of the exchanger current to odor transduction. PMID:10828249

Optimization of NaOH Molarity, LUSI Mud/Alkaline Activator, and Na2SiO3/NaOH Ratio to Produce Lightweight Aggregate-Based Geopolymer

PubMed Central

Abdul Razak, Rafiza; Abdullah, Mohd Mustafa Al Bakri; Hussin, Kamarudin; Ismail, Khairul Nizar; Hardjito, Djwantoro; Yahya, Zarina

2015-01-01

This paper presents the mechanical function and characterization of an artificial lightweight geopolymer aggregate (ALGA) using LUSI (Sidoarjo mud) and alkaline activator as source materials. LUSI stands for LU-Lumpur and SI-Sidoarjo, meaning mud from Sidoarjo which erupted near the Banjarpanji-1 exploration well in Sidoarjo, East Java, Indonesia on 27 May 2006. The effect of NaOH molarity, LUSI mud/Alkaline activator (LM/AA) ratio, and Na2SiO3/NaOH ratio to the ALGA are investigated at a sintering temperature of 950 °C. The results show that the optimum NaOH molarity found in this study is 12 M due to the highest strength (lowest AIV value) of 15.79% with lower water absorption and specific gravity. The optimum LUSI mud/Alkaline activator (LM/AA) ratio of 1.7 and the Na2SiO3/NaOH ratio of 0.4 gives the highest strength with AIV value of 15.42% with specific gravity of 1.10 g/cm3 and water absorption of 4.7%. The major synthesized crystalline phases were identified as sodalite, quartz and albite. Scanning Electron Microscope (SEM) image showed more complete geopolymer matrix which contributes to highest strength of ALGA produced. PMID:26006238

Zero-gravity growth of NaF-NaCl eutectics in the NASA Skylab program

NASA Technical Reports Server (NTRS)

Yue, A. S.; Allen, F. G.; Yu, J. G.

1976-01-01

Continuous and discontinuous NaF fibers, embedded in a NaCl matrix, were produced in space and on earth. The production of continuous fibers in a eutectic mixture is attributed to the absence of convection current in the liquid during solidification in space. Image transmission and optical transmittance measurements of transverse sections of the space-grown and earth-grown ingots were made with a light microscope and a spectrometer. It is shown that better optical properties were obtained from samples grown in space. This was attributed to a better alignment of NaF fibers along the ingot axis. A new concept is advanced to explain the phenomenon of transmittance versus far infrared wavelength of the directionally solidified NaCl-NaF eutectic in terms of the two-dimensional Bragg Scattering and the polarization effect of Rayleigh scattering. This concept can be applied to other eutectic systems as long as the index of refraction of the matrix over a range of wavelengths is known. Experimental data are in agreement with the theoretical prediction.

Light-driven Na + pump from Gillisia limnaea: A high-affinity Na + binding site is formed transiently in the photocycle

DOE PAGES

Balashov, Sergei P.; Imasheva, Eleonora S.; Dioumaev, Andrei K.; ...

2014-11-06

A group of microbial retinal proteins most closely related to the proton pump xanthorhodopsin has a novel sequence motif and a novel function. Instead of, or in addition to, proton transport, they perform light-driven sodium ion transport, as reported for one representative of this group (KR2) from Krokinobacter. In this paper, we examine a similar protein, GLR from Gillisia limnaea, expressed in Escherichia coli, which shares some properties with KR2 but transports only Na +. The absorption spectrum of GLR is insensitive to Na + at concentrations of ≤3 M. However, very low concentrations of Na + cause profound differencesmore » in the decay and rise time of photocycle intermediates, consistent with a switch from a “Na +-independent” to a “Na +-dependent” photocycle (or photocycle branch) at ~60 μM Na +. The rates of photocycle steps in the latter, but not the former, are linearly dependent on Na + concentration. This suggests that a high-affinity Na + binding site is created transiently after photoexcitation, and entry of Na + from the bulk to this site redirects the course of events in the remainder of the cycle. A greater concentration of Na + is needed for switching the reaction path at lower pH. The data suggest therefore competition between H + and Na + to determine the two alternative pathways. The idea that a Na + binding site can be created at the Schiff base counterion is supported by the finding that upon perturbation of this region in the D251E mutant, Na + binds without photoexcitation. Furthermore, binding of Na+ to the mutant shifts the chromophore maximum to the red like that of H +, which occurs in the photocycle of the wild type.« less

RNA adducts with Na 2SeO 4 and Na 2SeO 3 - Stability and structural features

NASA Astrophysics Data System (ADS)

Nafisi, Shohreh; Manouchehri, Firouzeh; Montazeri, Maryam

2011-12-01

Selenium compounds are widely available in dietary supplements and have been extensively studied for their antioxidant and anticancer properties. Low blood Se levels were found to be associated with an increased incidence and mortality from various types of cancers. Although many in vivo and clinical trials have been conducted using these compounds, their biochemical and chemical mechanisms of efficacy are the focus of much current research. This study was designed to examine the interaction of Na 2SeO 4 and Na 2SeO 3 with RNA in aqueous solution at physiological conditions, using a constant RNA concentration (6.25 mM) and various sodium selenate and sodium selenite/polynucleotide (phosphate) ratios of 1/80, 1/40, 1/20, 1/10, 1/5, 1/2 and 1/1. Fourier transform infrared, UV-Visible spectroscopic methods were used to determine the drug binding modes, the binding constants, and the stability of Na 2SeO 4 and Na 2SeO 3-RNA complexes in aqueous solution. Spectroscopic evidence showed that Na 2SeO 4 and Na 2SeO 3 bind to the major and minor grooves of RNA ( via G, A and U bases) with some degree of the Se-phosphate (PO 2) interaction for both compounds with overall binding constants of K(Na 2SeO 4-RNA) = 8.34 × 10 3 and K(Na 2SeO 3-RNA) = 4.57 × 10 3 M -1. The order of selenium salts-biopolymer stability was Na 2SeO 4-RNA > Na 2SeO 3-RNA. RNA aggregations occurred at higher selenium concentrations. No biopolymer conformational changes were observed upon Na 2SeO 4 and Na 2SeO 3 interactions, while RNA remains in the A-family structure.

Kinetics of 3H-serotonin uptake by platelets in infantile autism and developmental language disorder (including five pairs of twins)

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

Katsui, T.; Okuda, M.; Usuda, S.

The kinetics of 5-HT uptake by platelets was studied in cases of infantile autism and developmental language disorder (DLD) and normal subjects. Two patients of the autism group were twins, and the seven patients of the DLD group were members of four pairs of twins. The Vmax values (means +/- SD) for autism and DLD were 6.46 +/- .90 pmol 5-HT/10(7) cells/min and 4.85 +/- 1.50 pmol 5-HT/10(7) cells/min, respectively. These values were both significantly higher than that of 2.25 +/- .97 pmole 5-HT/10(7) cells/min for normal children. The Km values of the three groups were not significantly different. Datamore » on the five pairs of twins examined suggested that the elevated Vmax of 5-HT uptake by platelets was determined genetically.« less

Na Diffusion in Quasi One-Dimensional Ion Conductor NaMn2O4 Observed by μ+SR

NASA Astrophysics Data System (ADS)

Umegaki, Izumi; Nozaki, Hiroshi; Harada, Masashi; Månsson, Martin; Sakurai, Hiroya; Kawasaki, Ikuto; Watanabe, Isao; Sugiyama, Jun

A quasi one-dimensional (1D) compound, NaMn2O4, in which Mn2O4 zigzag chains form a 1D channel along the b-axis and Na ions locate at the center of the channel, is thought to be a good Na ionic conductor. In order to study Na-ion diffusion, we have measured μ+SR spectra using a powder sample in the temperature range between 100 and 500 K. A diffusive behavior was clearly observed above 325 K. Assuming a thermal activate process for jump diffusion of Na-ion between two nearest neighboring sites, a self diffusion coefficient of Na ion (DNa) and its activation energy (Ea) were estimated as DNa = (3.1 ± 0.2) × 10 - 11 cm2/s at 350 K and Ea = 180(9) meV.

High-Performance Na-O2 Batteries Enabled by Oriented NaO2 Nanowires as Discharge Products.

PubMed

Khajehbashi, S Mohammad B; Xu, Lin; Zhang, Guobin; Tan, Shuangshuang; Zhao, Yan; Wang, Lai-Sen; Li, Jiantao; Luo, Wen; Peng, Dong-Liang; Mai, Liqiang

2018-06-13

Na-O 2 batteries are emerging rechargeable batteries due to their high theoretical energy density and abundant resources, but they suffer from sluggish kinetics due to the formation of large-size discharge products with cubic or irregular particle shapes. Here, we report the unique growth of discharge products of NaO 2 nanowires inside Na-O 2 batteries that significantly boosts the performance of Na-O 2 batteries. For this purpose, a high-spin Co 3 O 4 electrocatalyst was synthesized via the high-temperature oxidation of pure cobalt nanoparticles in an external magnetic field. The discharge products of NaO 2 nanowires are 10-20 nm in diameter and ∼10 μm in length, characteristics that provide facile pathways for electron and ion transfer. With these nanowires, Na-O 2 batteries have surpassed 400 cycles with a fixed capacity of 1000 mA h g -1 , an ultra-low over-potential of ∼60 mV during charging, and near-zero over-potential during discharging. This strategy not only provides a unique way to control the morphology of discharge products to achieve high-performance Na-O 2 batteries but also opens up the opportunity to explore growing nanowires in novel conditions.

Maturational changes in extracellular matrix and lung tissue mechanics.

PubMed

Tanaka, R; Al-Jamal, R; Ludwig, M S

2001-11-01

The viscoelastic properties of the pulmonary parenchyma change rapidly postparturition. We compared changes in mechanical properties with changes in tissue composition of rat lung parenchymal strips in three groups of Sprague-Dawley rats: baby (B; 10-14 days), young (Y; approximately 3 wk), and adult (A; approximately 8 wk). Strips were suspended in an organ bath, and resistance (R), elastance (E), and hysteresivity (eta) were calculated during sinusoidal oscillations before and after the addition of acetylcholine (ACh) (10(-3) M). Strips were then fixed in formalin, and sections were stained with hematoxylin and eosin, Verhoff's elastic stain, or Van Gieson's picric acid-fuchsin stain for collagen. The volume proportion of collagen (%Col), the length density of elastic fibers (L(V)/Pr(alv)), and the arithmetic mean thickness of alveolar septae (T(a)) were calculated by morphometry. Tissue was also stained for alpha-smooth muscle actin (ASMA), and the volume proportion of ASMA (%ASMA) was calculated. Hyaluronic acid (HA) was quantitated by radioimmunoassay in separate strips. R and E in B strips were significantly higher, whereas eta was significantly smaller than in Y or A strips. Changes in these parameters with ACh were greater in B strips. T(a), %ASMA, and HA were greatest in B strips, whereas %Col and L(V)/Pr(alv) were least. There were significant positive correlations between R and E vs. T(a) and between percent change in R and eta post-ACh vs. T(a) and vs. %ASMA, and significant negative correlations between R and E vs. %Col and vs. L(V)/Pr(alv) and percent increase in all three mechanical parameters post-ACh vs. %Col. These data suggest that the relatively high stiffness, R, and contractile responsiveness of parenchymal tissues observed in newborns are not directly attributable to the amount of collagen and elastic fibers in the tissue, but rather they are related to the thickened alveolar wall and the relatively greater percent of contractile cells.

24Mg(p, α) 21Na reaction study for spectroscopy of 21Na

DOE PAGES

Cha, S. M.; Chae, K. Y.; Kim, A.; ...

2015-11-03

The Mg-24(p, alpha)Na-21 reaction was measured at the Holifield Radioactive Ion Beam Facility at Oak Ridge National Laboratory in order to better constrain the spins and parities of the energy levels in Na-21 for the astrophysically important F-17(alpha, p)Ne-20 reaction rate calculation. 31-MeV proton beams from the 25-MV tandem accelerator and enriched Mg-24 solid targets were used. When recoiling He-4 particles from the Mg-24(p, alpha)Na-21 reaction we used a highly segmented silicon detector array to detect them; it measured the yields of He-4 particles over a range of angles simultaneously. A observed a new level at 6661 ± 5 keVmore » in the present work. The extracted angular distributions for the first four levels of Na-21 and the results from distorted wave Born approximation (DWBA) calculations were compared to verify and extract the angular momentum transfer.« less

Insight to the Thermal Decomposition and Hydrogen Desorption Behaviors of NaNH2-NaBH4 Hydrogen Storage Composite.

PubMed

Pei, Ziwei; Bai, Ying; Wang, Yue; Wu, Feng; Wu, Chuan

2017-09-20

The lightweight compound material NaNH 2 -NaBH 4 is regarded as a promising hydrogen storage composite due to the high hydrogen density. Mechanical ball milling was employed to synthesize the composite NaNH 2 -NaBH 4 (2/1 molar ratio), and the samples were investigated utilizing thermogravimetric-differential thermal analysis-mass spectroscopy (TG-DTA-MS), X-ray diffraction (XRD), and Fourier transform infrared spectroscopy (FTIR) analyses. The full-spectrum test (range of the ratio of mass to charge: 0-200) shows that the released gaseous species contain H 2 , NH 3 , B 2 H 6 , and N 2 in the heating process from room temperature to 400 °C, and possibly the impurity gas B 6 H 12 also exists. The TG/DTA analyses show that the composite NaNH 2 -NaBH 4 (2/1 molar ratio) is conductive to generate hydrogen so that the dehydrogenation process can be finished before 400 °C. Moreover, the thermal decomposition process from 200 to 400 °C involves two-step dehydrogenation reactions: (1) Na 3 (NH 2 ) 2 BH 4 hydride decomposes into Na 3 BN 2 and H 2 (200-350 °C); (2) remaining Na 3 (NH 2 ) 2 BH 4 reacts with NaBH 4 and Na 3 BN 2 , generating Na, BN, NH 3 , N 2 , and H 2 (350-400 °C). The better mechanism understanding of the thermal decomposition pathway lays a foundation for tailoring the hydrogen storage performance of the composite complex hydrides system.

Sodium channel diversity in the vestibular ganglion: NaV1.5, NaV1.8, and tetrodotoxin-sensitive currents

PubMed Central

2016-01-01

Firing patterns differ between subpopulations of vestibular primary afferent neurons. The role of sodium (NaV) channels in this diversity has not been investigated because NaV currents in rodent vestibular ganglion neurons (VGNs) were reported to be homogeneous, with the voltage dependence and tetrodotoxin (TTX) sensitivity of most neuronal NaV channels. RT-PCR experiments, however, indicated expression of diverse NaV channel subunits in the vestibular ganglion, motivating a closer look. Whole cell recordings from acutely dissociated postnatal VGNs confirmed that nearly all neurons expressed NaV currents that are TTX-sensitive and have activation midpoints between −30 and −40 mV. In addition, however, many VGNs expressed one of two other NaV currents. Some VGNs had a small current with properties consistent with NaV1.5 channels: low TTX sensitivity, sensitivity to divalent cation block, and a relatively negative voltage range, and some VGNs showed NaV1.5-like immunoreactivity. Other VGNs had a current with the properties of NaV1.8 channels: high TTX resistance, slow time course, and a relatively depolarized voltage range. In two NaV1.8 reporter lines, subsets of VGNs were labeled. VGNs with NaV1.8-like TTX-resistant current also differed from other VGNs in the voltage dependence of their TTX-sensitive currents and in the voltage threshold for spiking and action potential shape. Regulated expression of NaV channels in primary afferent neurons is likely to selectively affect firing properties that contribute to the encoding of vestibular stimuli. PMID:26936982

Enhancement of the sulfur capture capacity of limestones by the addition of Na2CO3 and NaCl.

PubMed

Laursen, K; Grace, J R; Lim, C J

2001-11-01

The ability of Na2CO3 and NaCl to enhance the sulfur capture capacity of three limestones was evaluated via fixed-bed calcination and sulfation experiments. The tested limestones represent three different sulfation morphologies: unreacted-core, network, and uniformly sulfated. Treatment with aqueous or powdered Na2CO3 significantly increased the Ca-utilization for two stones which normally sulfate in an unreacted-core pattern (20% to 45%) and network pattern (33% to 49%). The increase was lower for the uniformly sulfated stone (44% to 48%). Na2CO3 treatment increased the number of macropores leading to uniform sulfation of all particles, nearly eliminating the normal strong dependence of utilization on limestone type and particle size. The effect of Na2CO3 is believed to be associated with formation of a eutectic melt which enhances ionic diffusion and accelerates molecular rearrangement of the CaO. Treatment with aqueous NaCl solution caused a decrease in utilization, probably due to formation of large grains and plugging of pores caused by formation of a large amount of eutectic melt. The effect of Na2CO3 is less sensitive than that of NaCl to the amount added and the combustion environment (temperature and gas composition). In addition, Na2CO3 neither promotes corrosion nor forms chlorinated byproducts, which are main concerns associated with NaCl. Thus, Na2CO3 appears to have significant advantages over NaCl for enhancement of limestone sulfur capture capacity in fluidized-bed combustors.

Infant mortality by color or race from Rondônia, Brazilian Amazon.

PubMed

Gava, Caroline; Cardoso, Andrey Moreira; Basta, Paulo Cesar

2017-04-10

raça, a fim de explorar iniquidades étnico-raciais em saúde. Estudo descritivo que analisou a qualidade dos registros do Sistema de Informações sobre Nascidos Vivos e do Sistema de Informações sobre Mortalidade em Rondônia, Amazônia brasileira, entre 2006-2009. As taxas de mortalidade infantil foram estimadas nas categorias de cor ou raça, pelo método direto, e corrigidas por: (1) distribuição proporcional dos óbitos com cor ou raça ignorada; e (2) aplicação de fatores de correção. Efetuou-se também o cálculo da mortalidade proporcional por causas e grupos etários. Entre 2008-2009, a captação de nascimentos e óbitos melhorou em relação aos anos de 2006-2007, requerendo fatores de correção menores para estimar a taxa de mortalidade infantil. O risco de morte de crianças indígenas (31,3/1.000 nascidos vivos) foi maior que o registrado nos demais grupos de cor ou raça, excedendo em 60% a mortalidade infantil média no estado (19,9/1.000 nascidos vivos). As crianças pretas apresentaram as maiores taxas de mortalidade infantil neonatal, enquanto as indígenas apresentaram as maiores taxas de mortalidade infantil pós-neonatal. Observou-se que 15,2% dos óbitos indígenas foram por causas mal definidas, enquanto nos demais grupos não ultrapassaram 5,4%. A mortalidade infantil proporcional por doenças infecciosas e parasitárias foi maior entre indígenas, ao passo que entre crianças pretas, sobressaíram as causas externas (8,7%). Observaram-se expressivas iniquidades na mortalidade infantil entre as categorias de cor ou raça, com situação mais desfavorável às crianças indígenas. Os fatores de correção propostos na literatura não consideram diferenças na subenumeração de óbitos entre as categorias de cor ou raça. A correção específica entre as categorias de cor ou raça provavelmente resultaria em exacerbação das iniquidades observadas.

Concentration dependence of Li+/Na+ diffusion in manganese hexacyanoferrates

NASA Astrophysics Data System (ADS)

Takachi, Masamitsu; Fukuzumi, Yuya; Moritomo, Yutaka

2016-06-01

Manganese hexacyanoferrates (Mn-HCFs) with a jungle-gym-type structure are promising cathode materials for Li+/Na+ secondary batteries (LIBs/SIBs). Here, we investigated the diffusion constants D Li/D Na of Li+/Na+ against the Li+/Na+ concentration x Na/x Li and temperature (T) of A 1.32Mn[Fe(CN)6]0.833.6H2O (A = Li and Na). We evaluated the activation energy E\\text{a}\\text{Li}/E\\text{a}\\text{Na} of D Li/D Na against x Na/x Li. We found that E\\text{a}\\text{Na} steeply increases with x Na from 0.41 eV at x Na = 0.69 to 0.7 eV at 1.1. The increase in E\\text{a}\\text{Na} is ascribed to the occupancy effect of the Na+ site. The increase in E\\text{a}\\text{Li} is suppressed, probably because the number of Li+ sites is three times that of Na+ sites.

Carbon dioxide sequestration using NaHSO4 and NaOH: A dissolution and carbonation optimisation study.

PubMed

Sanna, Aimaro; Steel, Luc; Maroto-Valer, M Mercedes

2017-03-15

The use of NaHSO 4 to leach out Mg fromlizardite-rich serpentinite (in form of MgSO 4 ) and the carbonation of CO 2 (captured in form of Na 2 CO 3 using NaOH) to form MgCO 3 and Na 2 SO 4 was investigated. Unlike ammonium sulphate, sodium sulphate can be separated via precipitation during the recycling step avoiding energy intensive evaporation process required in NH 4 -based processes. To determine the effectiveness of the NaHSO 4 /NaOH process when applied to lizardite, the optimisation of the dissolution and carbonation steps were performed using a UK lizardite-rich serpentine. Temperature, solid/liquid ratio, particle size, concentration and molar ratio were evaluated. An optimal dissolution efficiency of 69.6% was achieved over 3 h at 100 °C using 1.4 M sodium bisulphate and 50 g/l serpentine with particle size 75-150 μm. An optimal carbonation efficiency of 95.4% was achieved over 30 min at 90 °C and 1:1 magnesium:sodium carbonate molar ratio using non-synthesised solution. The CO 2 sequestration capacity was 223.6 g carbon dioxide/kg serpentine (66.4% in terms of Mg bonded to hydromagnesite), which is comparable with those obtained using ammonium based processes. Therefore, lizardite-rich serpentinites represent a valuable resource for the NaHSO 4 /NaOH based pH swing mineralisation process. Copyright © 2016 Elsevier Ltd. All rights reserved.

Characterization and antibacterial activity of silver exchanged regenerated NaY zeolite from surfactant-modified NaY zeolite.

PubMed

Salim, Mashitah Mad; Malek, Nik Ahmad Nizam Nik

2016-02-01

The antibacterial activity of regenerated NaY zeolite (thermal treatment from cetyltrimethyl ammonium bromide (CTAB)-modified NaY zeolite and pretreatment with Na ions) loaded with silver ions were examined using the broth dilution minimum inhibitory concentration (MIC) method against Escherichia coli (E. coli ATCC 11229) and Staphylococcus aureus (S. aureus ATCC 6538). X-ray diffraction (XRD), attenuated total reflectance-Fourier transform infrared (ATR-FTIR) spectroscopy, field emission scanning electron microscopy (FESEM), energy dispersive X-ray (EDX) and chemical elemental analyses were used to characterize the regenerated NaY and AgY zeolites. The XRD patterns indicated that the calcination and addition of silver ions on regenerated NaY zeolite did not affect the structure of the regenerated NaY zeolite as the characteristic peaks of the NaY zeolite were retained, and no new peaks were observed. The regenerated AgY zeolite showed good antibacterial activity against both bacteria strains in distilled water, and the antibacterial activity of the samples increased with increasing Ag loaded on the regenerated AgY zeolite; the regenerated AgY zeolite was more effective against E. coli than S. aureus. However, the antibacterial activity of the regenerated AgY was not effective in saline solution for both bacteria. The study showed that CTAB-modified NaY zeolite materials could be regenerated to NaY zeolite using thermal treatment (550°C, 5h) and this material has excellent performance as an antibacterial agent after silver ions loading. Copyright © 2015 Elsevier B.V. All rights reserved.

Adsorption and Formation of Small Na Clusters on Pristine and Double-Vacancy Graphene for Anodes of Na-Ion Batteries.

PubMed

Liang, Zhicong; Fan, Xiaofeng; Zheng, Weitao; Singh, David J

2017-05-24

Layered carbon is a likely anode material for Na-ion batteries (NIBs). Graphitic carbon has a low capacity of approximately 35 (mA h)/g due to the formation of NaC 64 . Using first-principles methods including van der Waals interactions, we analyze the adsorption of Na ions and clusters on graphene in the context of anodes. The interaction between Na ions and graphene is found to be weak. Small Na clusters are not stable on the surface of pristine graphene in the electrochemical environment of NIBs. However, we find that Na ions and clusters can be stored effectively on defected graphene that has double vacancies. In addition, the adsorption energy of small Na clusters near a double vacancy is found to decrease with increasing cluster size. With high concentrations of vacancies the capacity of Na on defective graphene is found to be as much as 10-30 times higher than that of graphitic carbon.

Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus

PubMed Central

Zhao, Hui; Huang, Xiu-Feng; Zheng, Zhi-Li; Deng, Wen-Li; Lei, Xin-Lan; Xing, Dong-Jun; Ye, Liang; Xu, Su-Zhong; Chen, Jie; Zhang, Fang; Yu, Xin-Ping; Jin, Zi-Bing

2016-01-01

Objectives Infantile nystagmus (IN) is a genetically heterogeneous condition characterised by involuntary rhythmic oscillations of the eyes accompanied by different degrees of vision impairment. Two genes have been identified as mainly causing IN: FRMD7 and GPR143. The aim of our study was to identify the genetic basis of both sporadic IN and X-linked IN. Design Prospective analysis. Patients Twenty Chinese patients, including 15 sporadic IN cases and 5 from X-linked IN families, were recruited and underwent molecular genetic analysis. We first performed PCR-based DNA sequencing of the entire coding region and the splice junctions of the FRMD7 and GPR143 genes in participants. Mutational analysis and co-segregation confirmation were then performed. Setting All clinical examinations and genetic experiments were performed in the Eye Hospital of Wenzhou Medical University. Results Two mutations in the FRMD7 gene, including one novel nonsense mutation (c.1090C>T, p.Q364X) and one reported missense mutation (c.781C>G, p.R261G), were identified in two of the five (40%) X-linked IN families. However, none of putative mutations were identified in FRMD7 or GPR143 in any of the sporadic cases. Conclusions The results suggest that mutations in FRMD7 appeared to be the major genetic cause of X-linked IN, but not of sporadic IN. Our findings provide further insights into FRMD7 mutations, which could be helpful for future genetic diagnosis and genetic counselling of Chinese patients with nystagmus. PMID:27036142

A prospective clinical evaluation of augmented Anderson procedure for idiopathic infantile nystagmus.

PubMed

Gupta, Ritesh; Sharma, Pradeep; Menon, Vimala

2006-08-01

To evaluate the efficacy of the augmented Anderson procedure in idiopathic infantile nystagmus (IIN). Twelve consecutive patients older than 5 years having IIN with eccentric null position and anomalous head position were enrolled in an institution-based study. Best-corrected visual acuity (uniocular and binocular and in both null position and primary position), slit-lamp examination, fundus examination, ocular motility examination, and stereopsis using TNO were recorded. In all cases the augmented Anderson procedure, that is, recession of the yoke muscles (9-mm medial rectus and 12-mm lateral rectus), was performed. Eye movements were recorded before and 3 months after surgery in the primary position, right gaze 15 and 30 degrees, and left gaze 15 and 30 degrees. All patients had improvement in their anomalous head posture after surgery (p = 0.0001). The nystagmus intensity in the primary position decreased from 22.0 +/- 15.9 degrees cycles/s preoperatively to 10.6 +/- 10.2 degrees cycles/s at 3 months postoperatively. The change was statistically significant (p = 0.006). After surgery, binocular visual acuity using the Early Treatment Diabetic Retinopathy Study chart improved in primary position (p = 0.007). No patient developed more than mild limitation of horizontal movements after surgery. The augmented Anderson procedure is successful in correcting face turn in patients having IIN with eccentric null position, resulting in an increase in visual acuity and a decrease in nystagmus intensity in primary position. Further studies with a longer follow-up are required to assess the long-term efficacy of this procedure.

Burden of Infantile Hemangioma on Family: An International Observational Cross-Sectional Study.

PubMed

Cazeau, Christine; Blei, Francine; Gonzáles Hermosa, María Del Rosario Fátima; Cavalli, Riccardo; Boccara, Olivia; Fölster-Holst, Regina; Berdeaux, Gilles; Delarue, Alain; Voisard, Jean-Jacques

2017-05-01

Infantile hemangioma (IH) is the most frequent benign tumor of infancy resulting from vascular proliferation. Data regarding the burden on families of children with IHs are limited. This study aimed to characterize IHs and provide a comprehensive evaluation of the burden of IHs on parents of children requiring systemic treatment in the United States and Europe. This noninterventional cross-sectional study included infants with newly diagnosed IH requiring systemic treatment. A parent or family member completed two questionnaires (Family Member questionnaire; Hemangioma Family Burden [HFB] questionnaire). A total of 693 individuals were evaluable in five countries. IHs were observed in more girls than boys (66%-83% female) and the mean age at inclusion was 0.44 to 1.4 years. Approximately half of patients had superficial IHs, approximately 70% of cases affected the head, and approximately 80% of cases were moderate or severe. Most patients received propranolol treatment. Their child's IH affected more than 70% of parents in each country, but fewer than 10% were offered psychological support. Approximately half of all parents reported that their child's IH affected their professional life. The global HFB score was significantly (p < 0.001) greater with greater IH severity. More than 90% of parents in each country were satisfied with the care of their child's disease. This international study using the validated HFB questionnaire provides further insight into the burden of IH and highlights potential areas for future focus in assisting families with affected children. © 2017 Wiley Periodicals, Inc.

The relationship between abduction deficit and reoperation among patients with infantile esotropia.

PubMed

Rajavi, Zhale; Sabbaghi, Hamideh; Torkian, Pooya; Behradfar, Narges; Yaseri, Mehdi; Feizi, Mohadeseh; Faghihi, Mohammad; Sheibani, Kourosh

2018-01-01

To determine the relationship between abduction deficit and reoperation among patients with infantile esotropia (IET). The records of 216 patients (432 eyes) with IET who underwent surgery, from 2010 to 2015 were studied. Patients with IET whose deviation appeared before 6mo of age and had stable preoperative deviation in two examinations with at least 2wk apart and a minimum 3mo postoperative follow up were included. Cases with early onset accommodative esotropia, congenital cataract, retinopathy of prematurity (ROP), manifest nystagmus, fundus lesions, neurologic and ophthalmic anomalies, 6 th nerve palsy and Duane's syndrome were excluded. Preoperative abduction deficit was considered from -1 to -3 grading scale. Three months after surgery, children were classified into no-need reoperation [deviation≤15 prism diopters (PD)], and need-reoperation groups (deviation>15 PD). In this retrospective study, 117 female and 99 male patients with the mean surgical age of 4.7±6.4y were included. Reoperation rate was 33.3% and 16.0% in IET patients with and without abduction deficit, respectively in patients who had a history of late surgery. Abduction deficit increased the odds of reoperation by 82% [OR=1.82, 95% confidence interval (CI) =1.05 to 3.19, P =0.003] in patients who had a history of late surgery (>2 years old, P =0.021). Abduction deficit was improved significantly after operation ( P <0.001). Based on our results, abduction deficit can be considered as a risk factor of reoperation in IET patients who are operated at the age of more than 2y.

Shoot Na+ Exclusion and Increased Salinity Tolerance Engineered by Cell Type–Specific Alteration of Na+ Transport in Arabidopsis[W][OA

PubMed Central

Møller, Inge S.; Gilliham, Matthew; Jha, Deepa; Mayo, Gwenda M.; Roy, Stuart J.; Coates, Juliet C.; Haseloff, Jim; Tester, Mark

2009-01-01

Soil salinity affects large areas of cultivated land, causing significant reductions in crop yield globally. The Na+ toxicity of many crop plants is correlated with overaccumulation of Na+ in the shoot. We have previously suggested that the engineering of Na+ exclusion from the shoot could be achieved through an alteration of plasma membrane Na+ transport processes in the root, if these alterations were cell type specific. Here, it is shown that expression of the Na+ transporter HKT1;1 in the mature root stele of Arabidopsis thaliana decreases Na+ accumulation in the shoot by 37 to 64%. The expression of HKT1;1 specifically in the mature root stele is achieved using an enhancer trap expression system for specific and strong overexpression. The effect in the shoot is caused by the increased influx, mediated by HKT1;1, of Na+ into stelar root cells, which is demonstrated in planta and leads to a reduction of root-to-shoot transfer of Na+. Plants with reduced shoot Na+ also have increased salinity tolerance. By contrast, plants constitutively expressing HKT1;1 driven by the cauliflower mosaic virus 35S promoter accumulated high shoot Na+ and grew poorly. Our results demonstrate that the modification of a specific Na+ transport process in specific cell types can reduce shoot Na+ accumulation, an important component of salinity tolerance of many higher plants. PMID:19584143

NMR studies on Na+ transport in Synechococcus PCC 6311

NASA Technical Reports Server (NTRS)

Nitschmann, W. H.; Packer, L.

1992-01-01

The freshwater cyanobacterium Synechococcus PCC 6311 is able to adapt to grow after sudden exposure to salt (NaCl) stress. We have investigated the mechanism of Na+ transport in these cells during adaptation to high salinity. Na+ influx under dark aerobic conditions occurred independently of delta pH or delta psi across the cytoplasmic membrane, ATPase activity, and respiratory electron transport. These findings are consistent with the existence of Na+/monovalent anion cotransport or simultaneous Na+/H+ +anion/OH- exchange. Na+ influx was dependent on Cl-, Br-, NO3-, or NO2-. No Na+ uptake occurred after addition of NaI, NaHCO3, or Na2SO4. Na+ extrusion was absolutely dependent on delta pH and on an ATPase activity and/or on respiratory electron transport. This indicates that Na+ extrusion via Na+/H+ exchange is driven by primary H+ pumps in the cytoplasmic membrane. Cells grown for 4 days in 0.5 m NaCl medium, "salt-grown cells," differ from control cells by a lower maximum velocity of Na+ influx and by lower steady-state ratios of [Na+]in/[Na+]out. These results indicate that cells grown in high-salt medium increase their capacity to extrude Na+. During salt adaptation Na+ extrusion driven by respiratory electron transport increased from about 15 to 50%.

Interaction of NaOH solutions with silica surfaces

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

Rimsza, Jessica M.; Jones, Reese E.; Criscenti, Louise J.

Sodium adsorption on silica surfaces depends on the solution counter-ion. Here, we use NaOH solutions to investigate basic environments. Sodium adsorption on hydroxylated silica surfaces from NaOH solutions were investigated through molecular dynamics with a dissociative force field, allowing for the development of secondary molecular species. Furthermore, across the NaOH concentrations (0.01 M – 1.0 M), ~50% of the Na + ions were concentrated in the surface region, developing silica surface charges between –0.01 C/m 2 (0.01 M NaOH) and –0.76 C/m 2 (1.0 M NaOH) due to surface site deprotonation. Five inner-sphere adsorption complexes were identified, including monodentate, bidentate,more » and tridentate configurations and two additional structures, with Na + ions coordinated by bridging oxygen and hydroxyl groups or water molecules. Coordination of Na + ions by bridging oxygen atoms indicates partial or complete incorporation of Na + ions into the silica surface. Residence time analysis identified that Na + ions coordinated by bridging oxygen atoms stayed adsorbed onto the surface four times longer than the mono/bi/tridentate species, indicating formation of relatively stable and persistent Na + ion adsorption structures. Such inner-sphere complexes form only at NaOH concentrations of > 0.5 M. Na + adsorption and lifetimes have implications for the stability of silica surfaces.« less

Interaction of NaOH solutions with silica surfaces

DOE PAGES

Rimsza, Jessica M.; Jones, Reese E.; Criscenti, Louise J.

2018-01-16

Sodium adsorption on silica surfaces depends on the solution counter-ion. Here, we use NaOH solutions to investigate basic environments. Sodium adsorption on hydroxylated silica surfaces from NaOH solutions were investigated through molecular dynamics with a dissociative force field, allowing for the development of secondary molecular species. Furthermore, across the NaOH concentrations (0.01 M – 1.0 M), ~50% of the Na + ions were concentrated in the surface region, developing silica surface charges between –0.01 C/m 2 (0.01 M NaOH) and –0.76 C/m 2 (1.0 M NaOH) due to surface site deprotonation. Five inner-sphere adsorption complexes were identified, including monodentate, bidentate,more » and tridentate configurations and two additional structures, with Na + ions coordinated by bridging oxygen and hydroxyl groups or water molecules. Coordination of Na + ions by bridging oxygen atoms indicates partial or complete incorporation of Na + ions into the silica surface. Residence time analysis identified that Na + ions coordinated by bridging oxygen atoms stayed adsorbed onto the surface four times longer than the mono/bi/tridentate species, indicating formation of relatively stable and persistent Na + ion adsorption structures. Such inner-sphere complexes form only at NaOH concentrations of > 0.5 M. Na + adsorption and lifetimes have implications for the stability of silica surfaces.« less

Accessing naïve human pluripotency

PubMed Central

De Los Angeles, Alejandro; Loh, Yuin-Han; Tesar, Paul J; Daley, George Q

2014-01-01

Pluripotency manifests during mammalian development through formation of the epiblast, founder tissue of the embryo proper. Rodent pluripotent stem cells can be considered as two distinct states: naïve and primed. Naïve pluripotent stem cell lines are distinguished from primed cells by self-renewal in response to LIF signaling and MEK/GSK3 inhibition (LIF/2i conditions) and two active X chromosomes in female cells. In rodent cells, the naïve pluripotent state may be accessed through at least three routes: explantation of the inner cell mass, somatic cell reprogramming by ectopic Oct4, Sox2, Klf4, and C-myc, and direct reversion of primed post-implantation-associated epiblast stem cells (EpiSCs). In contrast to their rodent counterparts, human embryonic stem cells and induced pluripotent stem cells more closely resemble rodent primed EpiSCs. A critical question is whether naïve human pluripotent stem cells with bona fide features of both a pluripotent state and naïve-specific features can be obtained. In this review, we outline current understanding of the differences between these pluripotent states in mice, new perspectives on the origins of naïve pluripotency in rodents, and recent attempts to apply the rodent paradigm to capture naïve pluripotency in human cells. Unraveling how to stably induce naïve pluripotency in human cells will influence the full realization of human pluripotent stem cell biology and medicine. PMID:22463982

Neutron diffraction studies of the Na-ion battery electrode materials NaCoCr{sub 2}(PO{sub 4}){sub 3}, NaNiCr{sub 2}(PO{sub 4}){sub 3}, and Na{sub 2}Ni{sub 2}Cr(PO{sub 4}){sub 3}

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

Yahia, H. Ben; Essehli, R., E-mail: ressehli@qf.org.qa; Avdeev, M.

The new compounds NaCoCr{sub 2}(PO{sub 4}){sub 3}, NaNiCr{sub 2}(PO{sub 4}){sub 3}, and Na{sub 2}Ni{sub 2}Cr(PO{sub 4}){sub 3} were synthesized by sol-gel method and their crystal structures were determined by using neutron powder diffraction data. These compounds were characterized by galvanometric cycling and cyclic voltammetry. NaCoCr{sub 2}(PO{sub 4}){sub 3}, NaNiCr{sub 2}(PO{sub 4}){sub 3}, and Na{sub 2}Ni{sub 2}Cr(PO{sub 4}){sub 3} crystallize with a stuffed α-CrPO{sub 4}-type structure. The structure consists of a 3D-framework made of octahedra and tetrahedra that are sharing corners and/or edges generating channels along [100] and [010], in which the sodium atoms are located. Of significance, in the structuresmore » of NaNiCr{sub 2}(PO{sub 4}){sub 3}, and Na{sub 2}Ni{sub 2}Cr(PO{sub 4}){sub 3} a statistical disorder Ni{sup 2+}/Cr{sup 3+} was observed on both the 8g and 4a atomic positions, whereas in NaCoCr{sub 2}(PO{sub 4}){sub 3} the statistical disorder Co{sup 2+}/Cr{sup 3+} was only observed on the 8g atomic position. When tested as negative electrode materials, NaCoCr{sub 2}(PO{sub 4}){sub 3}, NaNiCr{sub 2}(PO{sub 4}){sub 3}, and Na{sub 2}Ni{sub 2}Cr(PO{sub 4}){sub 3} delivered specific capacities of 352, 385, and 368 mA h g{sup −1}, respectively, which attests to the electrochemical activity of sodium in these compounds. - Highlights: • NaCoCr{sub 2}(PO{sub 4}){sub 3}, NaNiCr{sub 2}(PO{sub 4}){sub 3}, and Na{sub 2}Ni{sub 2}Cr(PO{sub 4}){sub 3} were synthesized by sol-gel method. • The crystal structures were determined by using neutron powder diffraction data. • The three compounds crystallize with a stuffed α-CrPO{sub 4}-type structure. • The three compounds were tested as anodes in sodium-ion batteries. • Relatively high specific capacities were obtained for these compounds.« less

Transcriptional regulators of Na,K-ATPase subunits

PubMed Central

Li, Zhiqin; Langhans, Sigrid A.

2015-01-01

The Na,K-ATPase classically serves as an ion pump creating an electrochemical gradient across the plasma membrane that is essential for transepithelial transport, nutrient uptake and membrane potential. In addition, Na,K-ATPase also functions as a receptor, a signal transducer and a cell adhesion molecule. With such diverse roles, it is understandable that the Na,K-ATPase subunits, the catalytic α-subunit, the β-subunit and the FXYD proteins, are controlled extensively during development and to accommodate physiological needs. The spatial and temporal expression of Na,K-ATPase is partially regulated at the transcriptional level. Numerous transcription factors, hormones, growth factors, lipids, and extracellular stimuli modulate the transcription of the Na,K-ATPase subunits. Moreover, epigenetic mechanisms also contribute to the regulation of Na,K-ATPase expression. With the ever growing knowledge about diseases associated with the malfunction of Na,K-ATPase, this review aims at summarizing the best-characterized transcription regulators that modulate Na,K-ATPase subunit levels. As abnormal expression of Na,K-ATPase subunits has been observed in many carcinoma, we will also discuss transcription factors that are associated with epithelial-mesenchymal transition, a crucial step in the progression of many tumors to malignant disease. PMID:26579519

Sepsis does not alter red blood cell glucose metabolism or Na+ concentration: A 2H-, 23Na-NMR study

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

Hotchkiss, R.S.; Song, S.K.; Ling, C.S.

The effects of sepsis on intracellular Na+ concentration ((Na+)i) and glucose metabolism were examined in rat red blood cells (RBCs) by using 23Na- and 2H-nuclear magnetic resonance (NMR) spectroscopy. Sepsis was induced in 15 halothane-anesthetized female Sprague-Dawley rats by using the cecal ligation and perforation technique; 14 control rats underwent cecal manipulation without ligation. The animals were fasted for 36 h, but allowed free access to water. At 36 h postsurgery, RBCs were examined by 23Na-NMR by using dysprosium tripolyphosphate as a chemical shift reagent. Human RBCs from 17 critically ill nonseptic patients and from 7 patients who were diagnosedmore » as septic were also examined for (Na+)i. Five rat RBC specimens had (Na+)i determined by both 23Na-NMR and inductively coupled plasma-atomic emission spectroscopy (ICP-AES). For glucose metabolism studies, RBCs from septic and control rats were suspended in modified Krebs-Henseleit buffer containing (6,6-2H2)glucose and examined by 2H-NMR. No significant differences in (Na+)i or glucose utilization were found in RBCs from control or septic rats. There were no differences in (Na+)i in the two groups of patients. The (Na+)i determined by NMR spectroscopy agreed closely with measurements using ICP-AES and establish that 100% of the (Na+)i of the RBC is visible by NMR. Glucose measurements determined by 2H-NMR correlated closely (correlation coefficient = 0.93) with enzymatic analysis. These studies showed no evidence that sepsis disturbed RBC membrane function or metabolism.« less

Association of infantile bruxism and the terminal relationships of the primary second molars.

PubMed

Junqueira, Tatiana Helena; Nahás-Scocate, Ana Carla Raphaelli; Valle-Corotti, Karyna Martins do; Conti, Ana Claudia de Castro Ferreira; Trevisan, Shirley

2013-01-01

The aim of this study was to analyze the association between infantile bruxism and the terminal relationships of the primary second molars. A total of 937 pre-school children (both genders), aged from 2 to 6 years, from municipal schools in São Paulo were evaluated. In this study, a questionnaire considering the bruxism habit and the presence of headaches and/or restless sleep was answered by the parents/guardians. A clinical exam of occlusion in the anteroposterior direction (vertical plane - VP, mesial step - MS and distal step - DS) was performed by the examiners in the school environment. Student's t test, Fisher's test and a logistic regression test were applied for the statistical analysis at a significance level of 5%. The prevalence of the bruxism habit was 29.3% among the total sample. Because there was no significant difference between the sides evaluated, the left side was taken as the standard. Among those children with bruxism, 25.7% presented a mesial step terminal relationship at the primary second molars, 29.1% had DS, and 30.2% had VP. Regarding the association of the parafunctional habit with the type of terminal relationship, no significant results were found. Children who slept restlessly or suffered from headaches were verified to show a higher chance of expressing the habit (OR = 2.4 and 1.6, respectively). The prevalence of bruxism in the studied sample was 29.3%, and its association with the primary second molars' terminal relationship was not statistically significant.

Gastric emptying 16 to 26 years after treatment of infantile hypertrophic pyloric stenosis.

PubMed

Lüdtke, F E; Bertus, M; Voth, E; Michalski, S; Lepsien, G

1994-04-01

Long-term follow-up was performed 16 to 26 years after conservative (group I, n = 18) and operative (group II, n = 38) treatment of 56 patients who had infantile hypertrophic pyloric stenosis (IHPS). The study encompassed the scintigraphic determination of gastric emptying rates for solids and liquids, an interview to obtain medical history and ascertain whether a current disorder of the upper gastrointestinal tract was present, and a clinical examination. Gastric emptying rates were measured on two different days for solids and liquids. The standard solid meal consisted of two scrambled eggs, two slices of toast, and 20 g of margarine. The gastric emptying rate for liquids was measured using 300 mL of apple juice. The scrambled eggs and apple juice were each marked with 2.2 MBq technetium 99m-sulphur-colloid. Two control collectives were used in this study; one group (physicians) served to create a reference curve for gastric emptying, and the other group, with the same age and gender distributions as those of the patients, served to evaluate the frequency of gastrointestinal complaints, by means of a questionnaire. There was no significant rate difference for gastric emptying between the patients treated conservatively or surgically and the controls. No association could be construed between the frequency of gastrointestinal symptoms or disorders and the gastric emptying rates for solids and liquids. The results presented here substantiate that clinically relevant disturbances of stomach motility after IHPS appear to be rare.

Role reversal method for treatment of food refusal associated with infantile feeding disorders.

PubMed

Segal, Idit; Tirosh, Anat; Sinai, Tali; Alony, Sari; Levi, Anat; Korenfeld, Lia; Zangen, Tsili; Mizrachi, Avi; Boaz, Mona; Levine, Arie

2014-06-01

Infantile feeding disorders (IFDs) are common causes of food refusal and failure to thrive, and are frequently encountered by primary care physicians and specialists. We have published the Wolfson criteria for IFD, which have eased the approach to the diagnosis of IFDs. Along with and complementary to the Wolfson criteria, we have also developed the role reversal treatment method for IFD, which has been briefly described earlier. The aim of this study was to validate the role reversal treatment method on a cohort of infants diagnosed as having IFD and to present a detailed description of this method for the first time. Parents of infants and children diagnosed as having IFD were invited to participate in the study; they were handed over a questionnaire comprising 6 categories of questions related to patient and parents behaviors, attitudes, and perceptions, which was completed at initiation and at the end of treatment. Full response was defined as improved normative feeding, cessation of abnormal parental feeding, and improved or normal growth patterns. A partial response was defined as success with two-third categories. We enrolled 38 patients, and 32 patients completed the study. Improved feeding occurred in 78%, full recovery was documented in 53% of infants by 6 months, and partial response was observed in another 25%. All forms of pathological feeding improved significantly (mechanistic, nocturnal, persecutory, forced feeding, and distraction). The role reversal treatment method is a simple and effective approach to the treatment of food refusal associated with IFD.

Randomised Clinical Efficacy Trial of Topiramate and Nitrazepam in Treatment of Infantile Spasms

PubMed Central

FALLAH, Razieh; SALOR, Fahimah; AKHAVAN KARBASI, Sedighah; MOTAGHIPISHEH, Hadi

2014-01-01

Objective Infantile spasms (IS) are among the most catastrophic epileptic syndromes of infancy. The purpose of this study was to compare efficacy and safety of topiramate (TPM) and nitrazepam (NZP) as first-line drugs in the treatment of IS. Materials & Methods In a parallel single-blinded randomized clinical trial, 50 patients with IS referred to Pediatric Neurology Clinic of Shahid Sadoughi University of Medical Sciences, Yazd, Iran, were evaluated from September 2008 to March 2010. Patients were randomly assigned to two groups to be treated with TPM or with NZP for 6 months. The primary endpoint was efficacy in cessation of all spasms or reduction of more than 50% in weekly seizure frequency, which was evaluated before and 6 months after the drug use. Secondary outcome was clinical sideeffects of the drugs. Results Twenty boys (40%) and 30 girls (60%) with the mean age of 9.4±3.8 months were evaluated. Cessation of all spasms occurred in 12 (48%) infants in TPM group and 4(16%) in NZP group. Eight (32%) children in TPM group and 7 (28%) in NZP group had more than 50% reduction in spasms frequency. So, TPM was more effective. Side effects were seen in 32% of TPM and in 36% of NZP groups. Conclusion Topiramate is an effective and safe drug, which might be considered as the firstline drug for the treatment of ISs. PMID:24665322

[Effect of NaHCO3 stress on uptake and transportation of Na+, K+ and Ca2+ in three shrub species].

PubMed

Mao, Gui-Lian; Li, Guo-Qi; Xu, Xing; Zhang, Xin-Xue

2014-03-01

We detected absorption and transportation of ions in the leaves of Atriplex nummularia, Atriplex canescens and Lycium barbarum under NaHCO3 stress (300 mmol x L(-1)) by using atomic absorption spectrophotometry and non-invasive ion flux measurement. The results showed that leaves of the A. nummularia, A. canescens and L. barbarum exhibited a high capacity to induce the Na+ accumulation when compared with that of control. The higher the concentration of NaHCO3 treatment, the more Na+ accumulated in the leaves of the three plants under experimental condition. L. barbarum showed a higher Na+ efflux in the mesophyll cells, whereas A. nummularia and A. canescens showed a relative lower efflux. A lower K+ content and a higher Na+/K+ ratio were detected in leaves of A. nummularia and L. barbarum. However, a higher K+ content and a lower Na+/K+ ratio were seen in leaves of A. canescens. Due to induction of Ca2+ efflux under the NaHCO3 treatment, a lower Ca2+ content and a higher Na+/Ca2+ ratio were observed in L. barbarum. On the contrary, a higher Ca2+ influx was observed in A. nummularia and A. canescens. These results suggested that the three shrubs species had different Na+ segmentation strategies. The accumulation of Na+ inhibited Ca2+ absorption in leaves of L. barbarum, while in the A. nummularia and A. canescens, Ca2+ influx induced [Ca2+]cyt which preserved a less-depolarized PM and then inhibited K efflux. The maintaining of cellular K+/Na+ homeostasis in A. nummularia and A. canescens might be achieved by the induction of [Ca2+]cyt under the NaHCO3 treatment.

High pressure structural stability of the Na-Te system

NASA Astrophysics Data System (ADS)

Wang, Youchun; Tian, Fubo; Li, Da; Duan, Defang; Xie, Hui; Liu, Bingbing; Zhou, Qiang; Cui, Tian

2018-03-01

The ab initio evolutionary algorithm is used to search for all thermodynamically stable Na-Te compounds at extreme pressure. In our calculations, several new structures are discovered at high pressure, namely, Imma Na2Te, Pmmm NaTe, Imma Na8Te2 and P4/mmm NaTe3. Like the known structures of Na2Te (Fm-3m, Pnma and P63/mmc), the Pmmm NaTe, Imma Na8Te2 and P4/mmm NaTe3 structures also show semiconductor properties with band-gap decreases when pressure increased. However, we find that the band-gap of Imma Na2Te structure increases with pressure. We presume that the result may be caused by the increasing of splitting between Te p states and Na s, Na p and Te d states. Furthermore, we think that the strong hybridization between Na p state and Te d state result in the band gap increasing with pressure.

Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic Heterogeneity

PubMed Central

Malacarne, Michela; Gennaro, Elena; Madia, Francesca; Pozzi, Sarah; Vacca, Daniela; Barone, Baldassare; Bernardina, Bernardo dalla; Bianchi, Amedeo; Bonanni, Paolo; De Marco, Pasquale; Gambardella, Antonio; Giordano, Lucio; Lispi, Maria Luisa; Romeo, Antonino; Santorum, Enrica; Vanadia, Francesca; Vecchi, Marilena; Veggiotti, Pierangelo; Vigevano, Federico; Viri, Franco; Bricarelli, Franca Dagna; Zara, Federico

2001-01-01

In 1997, a locus for benign familial infantile convulsions (BFIC) was mapped to chromosome 19q. Further data suggested that this locus is not involved in all families with BFIC. In the present report, we studied eight Italian families and mapped a novel BFIC locus within a 0.7-cM interval of chromosome 2q24, between markers D2S399 and D2S2330. A maximum multipoint HLOD score of 6.29 was obtained under the hypothesis of genetic heterogeneity. Furthermore, the clustering of chromosome 2q24–linked families in southern Italy may indicate a recent founder effect. In our series, 40% of the families are linked to neither chromosome 19q or 2q loci, suggesting that at least three loci are involved in BFIC. This finding is consistent with other autosomal dominant idiopathic epilepsies in which different genes were found to be implicated. PMID:11326335

FTIR spectra of the solid solutions (Na0.88K0.12)VO3, (Na0.5K0.5)VO3, and Na(V0.66P0.34)O3

NASA Astrophysics Data System (ADS)

de Waal, D.; Heyns, A. M.

1992-03-01

It is known that three different solid solutions, (Na0.88K0.12)VO3, (Na0.5K0.5)VO3 and Na(V0.66P0.34)O3, form in the (Na,K)(V,P)O3 system. These compounds all have monoclinic crystal structures similar to the pure alkali metal metavanadates containing small cations, e.g. Li+ and Na+ (Space group C2/c). Metavanadates with large cations like K+, Rb+, C+s and NH+4 form orthorhombic crystals, space group Pbcm. All those are structurally related to the silicate pyroxenes. Na(V0.66P0.34)O3 and (Na0.88K0.12)VO3 have the same modified diopside structure as (alpha) - NaVO3 while (Na0.5K0.5)VO3 adopts the true diopside structure. The infrared spectra of the three solid solutions are reported here in comparison with those of (alpha) -NaVO3 and KVO3. The results are also correlated with those obtained in two independent high pressure Raman studies of NH4VO3 and RbVO3 as the introduction of a larger cation like K+ should increase the pressure in the structure.

[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis].

PubMed

Li, Deng-Feng; Lan, Dan; Zhong, Jing-Zi; Dewan, Roma Kajal; Xie, Yan-Shu; Yang, Ying

2017-05-01

This article reported the clinical features of one child with infantile hypophosphatasia (HPP) and his pedigree information. The proband was a 5-month-old boy with multiple skeletal dysplasia (koilosternia, bending deformity of both radii, and knock-knee deformity of both knees), feeding difficulty, reduction in body weight, developmental delay, recurrent pneumonia and respiratory failure, and a significant reduction in blood alkaline phosphatase. Among his parents, sister, uncle, and aunt (other family members did not cooperate with us in the examination), his parents and aunt had a slight reduction in alkaline phosphatase and his aunt had scoliosis; there were no other clinical phenotypes or abnormal laboratory testing results. His ALPL gene mutation came from c.228delG mutation in his mother and c.407G>A compound heterozygous mutation in his father. His aunt carried c.228delG mutation. The c.407G>A mutation had been reported as the pathogenic mutation of HPP, and c.228delG mutation was a novel pathogenic mutation. Hypophosphatasia is caused by ALPL gene mutation, and ALPL gene detection is an effective diagnostic method. This study expands the mutation spectrum of ALPL gene and provides a theoretical basis for genetic diagnosis of this disease.

A computational study of Na behavior on graphene

NASA Astrophysics Data System (ADS)

Malyi, Oleksandr I.; Sopiha, Kostiantyn; Kulish, Vadym V.; Tan, Teck L.; Manzhos, Sergei; Persson, Clas

2015-04-01

We present the first ab initio and molecular dynamics study of Na adsorption and diffusion on ideal graphene that considers Na-Na interaction and dispersion forces. From density functional theory (DFT) calculations using the generalized gradient approximation (GGA), the binding energy (vs. the vacuum reference state) of -0.75 eV is higher than the cohesive energy of Na metal (ENa metal cohesive energy (EcohDFT - D = - 1.21 eV) when dispersion correction is included (DFT-D), with Eb = -1.14 eV. Both DFT and DFT-D predict that the increase of Na concentration on graphene results in formation of Na complexes. This is evidenced by smaller Bader charge on Na atoms of Na dimer, 0.55e (0.48e for DFT) compared to 0.86e (for both DFT and DFT-D) for the single atom adsorption as well as by the formation of a Nasbnd Na bond identified by analysis of the electron density. These results suggest that ideal graphene is not a promising anode material for Na-ion batteries. Analysis of diffusion pathways for a Na dimer shows that the dimer remains stable during the diffusion, and computed migration barriers are significantly lower for the dimer than that for the single atom diffusion. This indicates that Na-Na interaction should be taken into account during the analysis of Na transport on graphene. Finally, we show that the typical defects (vacancy and divacancy) induce significant strengthening of the Nasbnd C interaction. In particular, the largest change to the interaction is computed for vacancy-defected graphene, where the found lowest binding energy (vs. the metal reference state) is about 1.15 eV (1.21 eV for DFT) lower than that for ideal graphene.

Expansion of postoperative pneumothorax and pneumomediastinum: determining when it is safe to fly.

PubMed

Szymanski, Trevor J; Jaklitsch, Michael T; Jacobson, Francine; Mullen, Gary J; Ferrigno, Massimo

2010-04-01

The possibility of expansion of pneumothorax (PTX) and/or pneumomediastinum (PMED) during commercial flights makes air travel after thoracic surgery particularly worrisome. Guidelines from the Aerospace Medical Association (AsMA) suggest delaying air travel 2 to 3 wk following uncomplicated thoracic surgery and 1 wk following radiographic resolution of PTX; they also state that PTX is an "absolute contraindication" to air travel. However, both AsMA guidelines and thoracic surgeons' recommendations for postoperative air travel require further examination. We reviewed the literature looking for evidence supporting official guidelines and conducted a survey of U.S. thoracic surgeons about their recommendations for air travel by patients with postoperative PTX and/or PMED. We found no experimental evidence supporting the AsMA guidelines. Of the 68 thoracic surgeons who returned our questionnaire, 44% recommended that patients wait variable periods of time of up to 42 d (13.8 +/- 11.6 d) following complete resolution of PTX prior to air travel, while 46% of them allowed their patients to fly with some degree of PTX. Following mediastinoscopy, 76.9% of the surgeons allowed their patients to fly without delay, even with PMED. The only adverse in-flight event reported was a case of thoracic pain during ascent. A wide variability exists among thoracic surgeons regarding their recommendations for air travel by patients with postoperative PTX and/or PMED. Both AsMA guidelines and surgeons' recommendations should rely more on scientific evidence. Studies of PTX and PMED expansion during simulated flight are needed to develop better guidelines.

Thyroid thermogenesis. Relationships between Na+-dependent respiration and Na+ + K+-adenosine triphosphatase activity in rat skeletal muscle.

PubMed Central

Asano, Y; Liberman, U A; Edelman, I S

1976-01-01

The effect of thyroid status on QO2, QO2 (t) and NaK-ATPase activity was examined in rat skeletal muscle. QO2(t) (i.e. Na+-transport-dependent respiration) was estimated with ouabain or Na+-free media supplemented with K+. In contrast to the effects of ouabain on ion composition, intracellular K+ was maintained at about 125 meq/liter, and intracellular Na+ was almost nil in the Na+-free media. The estimates of QO2(t) were independent of the considerable differences in tissue ion concentrations. The increase in QO2(t) account for 47% of the increase in QO2 in the transition from the hypothyroid to the euthyroid state and 84% of the increase in the transition from the euthyroid to the hyperthyroid state. Surgical thyroidectomy lowered NaK-ATPase activity of the microsomal fraction (expressed per milligram protein) 32%; injections of triodothyronine (T3) increased this activity 75% in initially hypothyroid rats and 26% in initially euthyroid rats. Thyroidectomy was attended by significant falls in serum Ca and Pi concentrations. Administration of T3 resulted in further declines in serum Ca and marked increases in serum Ps concentrations. Similar effects were seen in 131I-treated rats, but the magnitude of the declines in serum Ca were less. The effects of T3 on QO2, QO2(t), and NaK-ATPase activity of skeletal muscle were indistinguishable in the 131I-ablated and surgically thyroidectomized rats. In thyroidectomized or euthyroid rats given repeated doses of T3, QO2(t) and NaA-ATPase activity increased proportionately. In thyroidectomized rats injected with single doses of T3, either 10, 50, or 250 mug/100 g body wt, QO2(t) increased linearly with NaK-ATPase activity. The kinetics of the NaK-ATPase activity was assessed with an ATP-generating system. T3 elicited a significant increase in Vmax with no change in Km for ATP. PMID:130385

Predictors of Sensitivity to Perceptual Learning in Children With Infantile Nystagmus.

PubMed

Huurneman, Bianca; Boonstra, F Nienke; Goossens, Jeroen

2017-08-01

To identify predictors of sensitivity to perceptual learning on a computerized, near-threshold letter discrimination task in children with infantile nystagmus (idiopathic IN: n = 18; oculocutaneous albinism accompanied by IN: n = 18). Children were divided into two age-, acuity-, and diagnosis-matched training groups: a crowded (n = 18) and an uncrowded training group (n = 18). Training consisted of 10 sessions spread out over 5 weeks (grand total of 3500 trials). Baseline performance, age, diagnosis, training condition, and perceived pleasantness of training (training joy) were entered as linear regression predictors of training-induced changes on a single- and a crowded-letter task. An impressive 57% of the variability in improvements of single-letter visual acuity was explained by age, training condition, and training joy. Being older and training with uncrowded letters were associated with larger single-letter visual acuity improvements. More training joy was associated with a larger gain from the uncrowded training and a smaller gain from the crowded training. Fifty-six percent of the variability in crowded-letter task improvements was explained by baseline performance, age, diagnosis, and training condition. After regressing out the variability induced by training condition, baseline performance, and age, perceptual learning proved more effective for children with idiopathic IN than for children with albinism accompanied by IN. Training gains increased with poorer baseline performance in idiopaths, but not in children with albinism accompanied by IN. Age and baseline performance, but not training joy, are important prognostic factors for the effect of perceptual learning in children with IN. However, their predictive value for achieving improvements in single-letter acuity and crowded letter acuity, respectively, differs between diagnostic subgroups and training condition. These findings may help with personalized treatment of individuals likely to benefit

Perceptual Learning in Children With Infantile Nystagmus: Effects on Reading Performance.

PubMed

Huurneman, Bianca; Boonstra, F Nienke; Goossens, Jeroen

2016-08-01

Perceptual learning improves visual acuity and reduces crowding in children with infantile nystagmus (IN). Here, we compare reading performance of 6- to 11-year-old children with IN with normal controls, and evaluate whether perceptual learning improves their reading. Children with IN were divided in two training groups: a crowded training group (n = 18; albinism: n = 8; idiopathic IN: n = 10) and an uncrowded training group (n = 17; albinism: n = 9; idiopathic IN: n = 8). Also 11 children with normal vision participated. Outcome measures were: reading acuity (the smallest readable font size), maximum reading speed, critical print size (font size below which reading is suboptimal), and acuity reserve (difference between reading acuity and critical print size). We used multiple regression analyses to test if these reading parameters were related to the children's uncrowded distance acuity and/or crowding scores. Reading acuity and critical print size were 0.65 ± 0.04 and 0.69 ± 0.08 log units larger for children with IN than for children with normal vision. Maximum reading speed and acuity reserve did not differ between these groups. After training, reading acuity improved by 0.12 ± 0.02 logMAR and critical print size improved by 0.11 ± 0.04 logMAR in both IN training groups. The changes in reading acuity, critical print size, and acuity reserve of children with IN were tightly related to changes in their uncrowded distance acuity and the changes in magnitude and extent of crowding. Our findings are the first to show that visual acuity is not the only factor that restricts reading in children with IN, but that crowding also limits their reading performance. By targeting both of these spatial bottlenecks in children with IN, our perceptual learning paradigms significantly improved their reading acuity and critical print size. This shows that perceptual learning can effectively transfer to reading.

Perceptual Learning in Children With Infantile Nystagmus: Effects on Visual Performance.

PubMed

Huurneman, Bianca; Boonstra, F Nienke; Goossens, Jeroen

2016-08-01

To evaluate whether computerized training with a crowded or uncrowded letter-discrimination task reduces visual impairment (VI) in 6- to 11-year-old children with infantile nystagmus (IN) who suffer from increased foveal crowding, reduced visual acuity, and reduced stereopsis. Thirty-six children with IN were included. Eighteen had idiopathic IN and 18 had oculocutaneous albinism. These children were divided in two training groups matched on age and diagnosis: a crowded training group (n = 18) and an uncrowded training group (n = 18). Training occurred two times per week during 5 weeks (3500 trials per training). Eleven age-matched children with normal vision were included to assess baseline differences in task performance and test-retest learning. Main outcome measures were task-specific performance, distance and near visual acuity (DVA and NVA), intensity and extent of (foveal) crowding at 5 m and 40 cm, and stereopsis. Training resulted in task-specific improvements. Both training groups also showed uncrowded and crowded DVA improvements (0.10 ± 0.02 and 0.11 ± 0.02 logMAR) and improved stereopsis (670 ± 249″). Crowded NVA improved only in the crowded training group (0.15 ± 0.02 logMAR), which was also the only group showing a reduction in near crowding intensity (0.08 ± 0.03 logMAR). Effects were not due to test-retest learning. Perceptual learning with or without distractors reduces the extent of crowding and improves visual acuity in children with IN. Training with distractors improves near vision more than training with single optotypes. Perceptual learning also transfers to DVA and NVA under uncrowded and crowded conditions and even stereopsis. Learning curves indicated that improvements may be larger after longer training.

Laser-induced chemiluminescence of NaMg

NASA Astrophysics Data System (ADS)

Benard, D. J.; Michels, H. H.

1982-03-01

An unstructured continuum emission around 670 nm was observed when Mg was added to an optically pumped heat pipe containing Na and K vapor, in good agreement with ab initio calculations of the NaMg potential energy curves. The corresponding excitation spectrum showed that the incident radiation was observed by NaK molecules (X → C transitions).

[The influence of the LK-92 "Adeli" treatment loading suit on electro-neuro-myographic characteristics in patients with infantile cerebral paralysis].

PubMed

Semenova, K A; Antonova, L V

1998-01-01

Treatment-loading costume (LK-92 "Adely") was investigated in terms of its influence on functional state of neuromotor apparatus in 25 children with infantile cerebral paralysis in the form of spastic diplegia. Improvement of motor functions observed may be conditioned by a decrease of an amplitude of bioelectric activity in spastic muscles at physiologic rest and by an increase of an amplitude of agonists' biopotentials at arbitrary movements. Improvement of motor functions may be also caused by normalization of both the coefficients characterizing coordinated muscules' interactions and functional state of spinal motoneurons as well as of the mechanisms of their suprasegmental regulation. It is suggested that such effect may be, realized because of the afferentation normalization as well as by means of the influence of LK-92 "Adely" on both central and segmentary structures of motor analyzer including neuromediator systems.

Advancement of technology towards developing Na-ion batteries

NASA Astrophysics Data System (ADS)

Jamesh, Mohammed Ibrahim; Prakash, A. S.

2018-02-01

The Na-ion-batteries are considered much attention for the next-generation power-sources due to the high abundance of Na resources that lower the cost and become the alternative for the state of the art Li-ion batteries in future. In this review, the recently reported potential cathode and anode candidates for Na-ion-batteries are identified in-light-of-their high-performance for the development of Na-ion-full-cells. Further, the recent-progress on the Na-ion full-cells including the strategies used to improve the high cycling-performance (stable even up-to 50000 cycles), operating voltage (even ≥ 3.7 V), capacity (>350 mAhg-1 even at 1000 mAg-1 (based-on-mass-of-the-anode)), and energy density (even up-to 400 Whkg-1) are reviewed. In addition, Na-ion-batteries with the electrodes containing reduced graphene oxide, and the recent developments on symmetric Na-ion-batteries are discussed. Further, this paper identifies the promising Na-ion-batteries including the strategies used to assemble full-cell using hard-carbon-anodes, Na3V2(PO4)3 cathodes, and other-electrode-materials. Then, comparison between aqueous and non-aqueous Na-ion-batteries in terms of voltage and energy density has been given. Later, various types of electrolytes used for Na-ion-batteries including aqueous, non-aqueous, ionic-liquids and solid-state electrolytes are discussed. Finally, commercial and technological-developments on Na-ion-batteries are provided. The scientific and engineering knowledge gained on Na-ion-batteries afford conceivable development for practical application in near future.

Negative electrodes for Na-ion batteries.

PubMed

Dahbi, Mouad; Yabuuchi, Naoaki; Kubota, Kei; Tokiwa, Kazuyasu; Komaba, Shinichi

2014-08-07

Research interest in Na-ion batteries has increased rapidly because of the environmental friendliness of sodium compared to lithium. Throughout this Perspective paper, we report and review recent scientific advances in the field of negative electrode materials used for Na-ion batteries. This paper sheds light on negative electrode materials for Na-ion batteries: carbonaceous materials, oxides/phosphates (as sodium insertion materials), sodium alloy/compounds and so on. These electrode materials have different reaction mechanisms for electrochemical sodiation/desodiation processes. Moreover, not only sodiation-active materials but also binders, current collectors, electrolytes and electrode/electrolyte interphase and its stabilization are essential for long cycle life Na-ion batteries. This paper also addresses the prospect of Na-ion batteries as low-cost and long-life batteries with relatively high-energy density as their potential competitive edge over the commercialized Li-ion batteries.

Task-induced Changes in Idiopathic Infantile Nystagmus Vary with Gaze.

PubMed

Salehi Fadardi, Marzieh; Bathke, Arne C; Harrar, Solomon W; Abel, Larry Allen

2017-05-01

Investigations of infantile nystagmus syndrome (INS) at center or at the null position have reported that INS worsens when visual demand is combined with internal states, e.g. stress. Visual function and INS parameters such as foveation time, frequency, amplitude, and intensity can also be influenced by gaze position. We hypothesized that increases from baseline in visual demand and mental load would affect INS parameters at the null position differently than at other gaze positions. Eleven participants with idiopathic INS were asked to determine the direction of Tumbling-E targets, whose visual demand was varied through changes in size and contrast, using a staircase procedure. Targets appeared between ±25° in 5° steps. The task was repeated with both mental arithmetic and time restriction to impose higher mental load, confirmed through subjective ratings and concurrent physiological measurements. Within-subject comparisons were limited to the null and 15° away from it. No significant main effects of task on any INS parameters were found. At both locations, high mental load worsened task performance metrics, i.e. lowest contrast (P = .001) and smallest optotype size reached (P = .012). There was a significant interaction between mental load and gaze position for foveation time (P = .02) and for the smallest optotype reached (P = .028). The increase in threshold optotype size from the low to high mental load was greater at the null than away from it. During high visual demand, foveation time significantly decreased from baseline at the null as compared to away from it (mean difference ± SE: 14.19 ± 0.7 msec; P = .010). Under high visual demand, the effects of increased mental load on foveation time and visual task performance differed at the null as compared to 15° away from it. Assessment of these effects could be valuable when evaluating INS clinically and when considering its impact on patients' daily activities.

The Na(+) transporter, TaHKT1;5-D, limits shoot Na(+) accumulation in bread wheat.

PubMed

Byrt, Caitlin Siobhan; Xu, Bo; Krishnan, Mahima; Lightfoot, Damien James; Athman, Asmini; Jacobs, Andrew Keith; Watson-Haigh, Nathan S; Plett, Darren; Munns, Rana; Tester, Mark; Gilliham, Matthew

2014-11-01

Bread wheat (Triticum aestivum L.) has a major salt tolerance locus, Kna1, responsible for the maintenance of a high cytosolic K(+) /Na(+) ratio in the leaves of salt stressed plants. The Kna1 locus encompasses a large DNA fragment, the distal 14% of chromosome 4DL. Limited recombination has been observed at this locus making it difficult to map genetically and identify the causal gene. Here, we decipher the function of TaHKT1;5-D, a candidate gene underlying the Kna1 locus. Transport studies using the heterologous expression systems Saccharomyces cerevisiae and Xenopus laevis oocytes indicated that TaHKT1;5-D is a Na(+) -selective transporter. Transient expression in Arabidopsis thaliana mesophyll protoplasts and in situ polymerase chain reaction indicated that TaHKT1;5-D is localised on the plasma membrane in the wheat root stele. RNA interference-induced silencing decreased the expression of TaHKT1;5-D in transgenic bread wheat lines which led to an increase in the Na(+) concentration in the leaves. This indicates that TaHKT1;5-D retrieves Na(+) from the xylem vessels in the root and has an important role in restricting the transport of Na(+) from the root to the leaves in bread wheat. Thus, TaHKT1;5-D confers the essential salinity tolerance mechanism in bread wheat associated with the Kna1 locus via shoot Na(+) exclusion and is critical in maintaining a high K(+) /Na(+) ratio in the leaves. These findings show there is potential to increase the salinity tolerance of bread wheat by manipulation of HKT1;5 genes. © 2014 The Authors The Plant Journal © 2014 John Wiley & Sons Ltd.

Elastic Coulomb breakup of 34Na

NASA Astrophysics Data System (ADS)

Singh, G.; Shubhchintak, Chatterjee, R.

2016-08-01

Background: 34Na is conjectured to play an important role in the production of seed nuclei in the alternate r -process paths involving light neutron rich nuclei very near the β -stability line, and as such, it is important to know its ground state properties and structure to calculate rates of the reactions it might be involved in, in the stellar plasma. Found in the region of `island of inversion', its ground state might not be in agreement with normal shell model predictions. Purpose: The aim of this paper is to study the elastic Coulomb breakup of 34Na on 208Pb to give us a core of 33Na with a neutron and in the process we try and investigate the one neutron separation energy and the ground state configuration of 34Na. Method: A fully quantum mechanical Coulomb breakup theory within the architecture of post-form finite range distorted wave Born approximation extended to include the effects of deformation is used to research the elastic Coulomb breakup of 34Na on 208Pb at 100 MeV/u. The triple differential cross section calculated for the breakup is integrated over the desired components to find the total cross-section, momentum, and angular distributions as well as the average momenta, along with the energy-angular distributions. Results: The total one neutron removal cross section is calculated to test the possible ground state configurations of 34Na. The average momentum results along with energy-angular calculations indicate 34Na to have a halo structure. The parallel momentum distributions with narrow full widths at half-maxima signify the same. Conclusion: We have attempted to analyze the possible ground state configurations of 34Na and in congruity with the patterns in the `island of inversion' conclude that even without deformation, 34Na should be a neutron halo with a predominant contribution to its ground state most probably coming from 33Na(3 /2+)⊗ 2 p3 /2ν configuration. We also surmise that it would certainly be useful and rewarding to test our

Resurgent current of voltage-gated Na+ channels

PubMed Central

Lewis, Amanda H; Raman, Indira M

2014-01-01

Resurgent Na+ current results from a distinctive form of Na+ channel gating, originally identified in cerebellar Purkinje neurons. In these neurons, the tetrodotoxin-sensitive voltage-gated Na+ channels responsible for action potential firing have specialized mechanisms that reduce the likelihood that they accumulate in fast inactivated states, thereby shortening refractory periods and permitting rapid, repetitive, and/or burst firing. Under voltage clamp, step depolarizations evoke transient Na+ currents that rapidly activate and quickly decay, and step repolarizations elicit slower channel reopening, or a ‘resurgent’ current. The generation of resurgent current depends on a factor in the Na+ channel complex, probably a subunit such as NaVβ4 (Scn4b), which blocks open Na+ channels at positive voltages, competing with the fast inactivation gate, and unblocks at negative voltages, permitting recovery from an open channel block along with a flow of current. Following its initial discovery, resurgent Na+ current has been found in nearly 20 types of neurons. Emerging research suggests that resurgent current is preferentially increased in a variety of clinical conditions associated with altered cellular excitability. Here we review the biophysical, molecular and structural mechanisms of resurgent current and their relation to the normal functions of excitable cells as well as pathophysiology. PMID:25172941

Painful Na-channelopathies: an expanding universe.

PubMed

Waxman, Stephen G

2013-07-01

The universe of painful Na-channelopathies--human disorders caused by mutations in voltage-gated sodium channels--has recently expanded in three dimensions. We now know that mutations of sodium channels cause not only rare genetic 'model disorders' such as inherited erythromelalgia and channelopathy-associated insensitivity to pain but also common painful neuropathies. We have learned that mutations of NaV1.8, as well as mutations of NaV1.7, can cause painful Na-channelopathies. Moreover, recent studies combining atomic level structural models and pharmacogenomics suggest that the goal of genomically guided pain therapy may not be unrealistic. Copyright © 2013 Elsevier Ltd. All rights reserved.

Integrated Control of Na Transport along the Nephron

PubMed Central

Schnermann, Jürgen

2015-01-01

The kidney filters vast quantities of Na at the glomerulus but excretes a very small fraction of this Na in the final urine. Although almost every nephron segment participates in the reabsorption of Na in the normal kidney, the proximal segments (from the glomerulus to the macula densa) and the distal segments (past the macula densa) play different roles. The proximal tubule and the thick ascending limb of the loop of Henle interact with the filtration apparatus to deliver Na to the distal nephron at a rather constant rate. This involves regulation of both filtration and reabsorption through the processes of glomerulotubular balance and tubuloglomerular feedback. The more distal segments, including the distal convoluted tubule (DCT), connecting tubule, and collecting duct, regulate Na reabsorption to match the excretion with dietary intake. The relative amounts of Na reabsorbed in the DCT, which mainly reabsorbs NaCl, and by more downstream segments that exchange Na for K are variable, allowing the simultaneous regulation of both Na and K excretion. PMID:25098598

Electrical resistivity of liquid Na-alkali alloys

NASA Astrophysics Data System (ADS)

Malan, Rajesh C.; Vora, Aditya M.

2018-05-01

The electrical resistivity (ρ) has been investigated for the liquid Na-alkali alloys. An effort is made to extend the applicability of the potential suggested by Fiolhais and co-workers to the liquid range for alkali group. The universal parameters of the potential are used for the entire calculation. Eight different screening functions proposed by Hartree (H), Hubbard and Sham (HS), Vashishtha and Shingwi (VS), Taylor (T), Ichimaru and Utsumi (IU), Farid et al. (F), Sarkar et al. (S) and Nagy (N) are used to study the electrical resistivity (ρ) of liquid Na-alkali alloys with well-known Faber-Ziman theory along with Percus-Yevic hard sphere (PYHS) reference system. The results of electrical resistivity (ρ) are found in qualitative agreement with experimental data for the Na-K and Na-Rb alloys than those for Na-Li and Na-Cs alloys.

The Na+ transport in gram-positive bacteria defect in the Mrp antiporter complex measured with 23Na nuclear magnetic resonance.

PubMed

Górecki, Kamil; Hägerhäll, Cecilia; Drakenberg, Torbjörn

2014-01-15

(23)Na nuclear magnetic resonance (NMR) has previously been used to monitor Na(+) translocation across membranes in gram-negative bacteria and in various other organelles and liposomes using a membrane-impermeable shift reagent to resolve the signals resulting from internal and external Na(+). In this work, the (23)Na NMR method was adapted for measurements of internal Na(+) concentration in the gram-positive bacterium Bacillus subtilis, with the aim of assessing the Na(+) translocation activity of the Mrp (multiple resistance and pH) antiporter complex, a member of the cation proton antiporter-3 (CPA-3) family. The sodium-sensitive growth phenotype observed in a B. subtilis strain with the gene encoding MrpA deleted could indeed be correlated to the inability of this strain to maintain a lower internal Na(+) concentration than an external one. Copyright © 2013 Elsevier Inc. All rights reserved.

Impaired IQ and academic skills in adults who experienced moderate to severe infantile malnutrition: a 40-year study.

PubMed

Waber, Deborah P; Bryce, Cyralene P; Girard, Jonathan M; Zichlin, Miriam; Fitzmaurice, Garrett M; Galler, Janina R

2014-02-01

To evaluate IQ and academic skills in adults who experienced an episode of moderate-to-severe infantile malnutrition and a healthy control group, all followed since childhood in the Barbados Nutrition Study. IQ and academic skills were assessed in 77 previously malnourished adults (mean age = 38.4 years; 53% male) and 59 controls (mean age = 38.1 years; 54% male). Group comparisons were carried out by multiple regression and logistic regression, adjusted for childhood socioeconomic factors. The previously malnourished group showed substantial deficits on all outcomes relative to healthy controls (P < 0.0001). IQ scores in the intellectual disability range (< 70) were nine times more prevalent in the previously malnourished group (odds ratio = 9.18; 95% confidence interval = 3.50-24.13). Group differences in IQ of approximately one standard deviation were stable from adolescence through mid-life. Moderate-to-severe malnutrition during infancy is associated with a significantly elevated incidence of impaired IQ in adulthood, even when physical growth is completely rehabilitated. An episode of malnutrition during the first year of life carries risk for significant lifelong functional morbidity.

Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.

PubMed

Sondheimer, Neal; Hewson, Stacy; Cameron, Jessie M; Somers, Gino R; Broadbent, Jane Dunning; Ziosi, Marcello; Quinzii, Catarina Maria; Naini, Ali B

2017-09-01

Coenzyme Q 10 (CoQ 10 ) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ 10 synthesis are usually associated with the impaired function of CoQ 10 -dependent complexes I, II and III. The recessively transmitted CoQ 10 deficiency has been associated with a number of phenotypically and genetically heterogeneous groups of disorders manifesting at variable age of onset. The infantile, multisystemic presentation is usually caused by mutations in genes directly involved in CoQ 10 biosynthesis. To date, mutations in COQ1 ( PDSS1 and PDSS2 ), COQ2 , COQ4 , COQ6 , COQ7 , COQ8A / ADCK3 , COQ8B/ADCK4 , and COQ9 genes have been identified in patients with primary form of CoQ 10 deficiency. Here we report novel mutations in the COQ4 gene, which were identified in an infant with profound mitochondrial disease presenting with perinatal seizures, hypertrophic cardiomyopathy and severe muscle CoQ 10 deficiency.

Phase equilibria in the NaF-CdO-NaPO{sub 3} system at 873 K and crystal structure and physico-chemical characterizations of the new Na{sub 2}CdPO{sub 4}F fluorophosphate

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

Aboussatar, Mohamed; Laboratoire de Physico-Chimie de l’État Solide, Faculté des Sciences de Sfax, Université de Sfax, BP 1171, 3000 Sfax; Mbarek, Aïcha

Isothermal sections of the diagram representing phase relationships in the NaF-CdO-NaPO{sub 3} system have been investigated by solid state reactions and powder X-ray diffraction. This phase diagram investigation confirms the polymorphism of the NaCdPO{sub 4} side component and the structure of the ß high temperature polymorph (orthorhombic, space group Pnma and unit cell parameters a=9.3118(2), b=7.0459(1), c=5.1849(1) Å has been refined. A new fluorophosphate, Na{sub 2}CdPO{sub 4}F, has been discovered and its crystal structure determined and refined from powder X-ray diffraction data. It exhibits a new 3D structure with orthorhombic symmetry, space group Pnma and unit cell parameters a=5.3731(1), b=6.8530(1),more » c=12.2691(2) Å. The structure is closely related to those of the high temperature polymorph of the nacaphite Na{sub 2}CaPO{sub 4}F and the fluorosilicate Ca{sub 2}NaSiO{sub 4}F but differs essentially in the cationic repartition since the structure is fully ordered with one Na site (8d) and one Cd site (4c). Relationships with other Na{sub 2}M{sup II}PO{sub 4}F (M{sup II}=Mg, Ca, Mn, Fe, Co, Ni) have been examined and the crystal-chemical and topographical analysis of these fluorophosphates is briefly reviewed. IR, Raman, optical and {sup 19}F, {sup 23}Na, {sup 31}P MAS NMR characterizations of Na{sub 2}CdPO{sub 4}F have been investigated. - Graphical abstract: The structure of the compound Na{sub 2}CdPO{sub 4}F, discovered during the study of the phase relationships in the NaF-CdO-NaPO{sub 3} system, has been determined and compared with other Na{sub 2}M{sup II}PO{sub 4}F fluorophosphates. - Highlights: • XRD analysis of the isothermal section of the NaF-CdO-NaPO{sub 3} system at 923 K. • Rietveld refinement of the high temperature polymorph β-NaCdPO{sub 4}. • Crystal structure of the new Na{sub 2}CdPO{sub 4}F fluorophosphate determined from powder XRD. • Crystal structure - composition relationships of Na{sub 2}M{sup II}PO{sub 4}F

Phase equilibria in the NaF-CdO-NaPO3 system at 873 K and crystal structure and physico-chemical characterizations of the new Na2CdPO4F fluorophosphate

NASA Astrophysics Data System (ADS)

Aboussatar, Mohamed; Mbarek, Aïcha; Naili, Houcine; El-Ghozzi, Malika; Chadeyron, Geneviève; Avignant, Daniel; Zambon, Daniel

2017-04-01

Isothermal sections of the diagram representing phase relationships in the NaF-CdO-NaPO3 system have been investigated by solid state reactions and powder X-ray diffraction. This phase diagram investigation confirms the polymorphism of the NaCdPO4 side component and the structure of the ß high temperature polymorph (orthorhombic, space group Pnma and unit cell parameters a=9.3118(2), b=7.0459(1), c=5.1849(1) Å has been refined. A new fluorophosphate, Na2CdPO4F, has been discovered and its crystal structure determined and refined from powder X-ray diffraction data. It exhibits a new 3D structure with orthorhombic symmetry, space group Pnma and unit cell parameters a=5.3731(1), b=6.8530(1), c=12.2691(2) Å. The structure is closely related to those of the high temperature polymorph of the nacaphite Na2CaPO4F and the fluorosilicate Ca2NaSiO4F but differs essentially in the cationic repartition since the structure is fully ordered with one Na site (8d) and one Cd site (4c). Relationships with other Na2MIIPO4F (MII=Mg, Ca, Mn, Fe, Co, Ni) have been examined and the crystal-chemical and topographical analysis of these fluorophosphates is briefly reviewed. IR, Raman, optical and 19F, 23Na, 31P MAS NMR characterizations of Na2CdPO4F have been investigated.

Na8Au9.8(4)Ga7.2 and Na17Au5.87(2)Ga46.63: The diversity of pseudo 5-fold symmetries in the Na-Au-Ga system

NASA Astrophysics Data System (ADS)

Smetana, Volodymyr; Corbett, John D.; Miller, Gordon J.

2013-11-01

The Na-rich part (~30% Na) of the Na-Au-Ga system between NaAu2, NaGa4, and Na22Ga39 has been found to contain the ternary phases Na8Au9.8(4)Ga7.2 (I) and Na17Au5.87(2)Ga46.63 (II), according to the results of single crystal X-ray diffraction measurements. I is orthorhombic, Cmcm, a=5.3040(1), b=24.519(5), c=14.573(3) Å, and contains a network of clusters with local 5-fold symmetry along the a-axis. Such clusters are frequent building units in decagonal quasicrystals and their approximants. II is rhombohedral, R3¯m, a=16.325(2), c=35.242(7) Å, and contains building blocks that are structurally identical to the Bergman-type clusters as well as fused icosahedral units known with active metals, triels and late transition elements. II also contains a polycationic network with elements of the clathrate V type structure. Tight-binding electronic structure calculations using linear muffin-tin-orbital (LMTO) methods on idealized models of I and II indicate that both compounds are metallic with evident pseudogaps at the corresponding Fermi levels. The overall Hamilton bond populations are generally dominated by Au-Ga and Au-Au bonds in I and by Ga-Ga bonds in II; moreover, the Na-Au and Na-Ga contributions in I are unexpectedly large, ~20% of the total. A similar involvement of sodium in covalent bonding has also been found in the electron-richer i-Na13Au12Ga15 quasicrystal approximant.

Effects of NaBF4 + NaF on the Tensile and Impact Properties of Al-Si-Mg-Fe Alloys

NASA Astrophysics Data System (ADS)

Chen, Zongning; Wang, Tongmin; Zhao, Yufei; Zheng, Yuanping; Kang, Huijun

2015-05-01

NaBF4 + NaF were found to play three roles, i.e., Fe-eliminator, grain refiner, and eutectic modifier, in treating A356 alloy with a high Fe content. The joint effects led to significant improvement in both tensile and impact properties of thus treated alloy. The multiple reactions between the NaBF4 + NaF and Al-Si-Mg-Fe system are suggested to form Fe2B, AlB2, and Na in the melt, as per thermodynamic analysis. The three are responsible for Fe removal, grain refinement, and eutectic modification, respectively. When NaBF4 and NaF are mixed in weight ratio of 1:1, an optimum addition rate is in the range between 1.0 and 2.0 wt pct for treating AlSi7Mg0.3Fe0.65 alloy, based on the results of tensile and impact tests. Excessive addition of the salt may deteriorate the mechanical properties of the alloy, basically owing to overmodification of Si and contamination of salt inclusions.

The effect of NaCl/g/ on the Na2SO4-induced hot corrosion of NiAl

NASA Technical Reports Server (NTRS)

Smeggil, J. G.; Bornstein, N. S.; Decrescente, M. A.

1977-01-01

Studies have been performed to examine the effect of NaCl vapor on the Na2SO4-induced hot corrosion of the alumina former NiAl. In the incubation period associated with such hot corrosion, NaCl(g) has been shown to be effective in removing aluminum from below the protective alumina scale and redepositing it as Al2O3 whiskers on the surface of the Na2SO4-coated sample. Similar effects seen in simple oxidation are associated with isothermal rupturing of the protective alumina scale.

Quantitative (23) Na MRI of human knee cartilage using dual-tuned (1) H/(23) Na transceiver array radiofrequency coil at 7 tesla.

PubMed

Moon, Chan Hong; Kim, Jung-Hwan; Zhao, Tiejun; Bae, Kyongtae Ty

2013-11-01

To develop quantitative dual-tuned (DT) (1) H/(23) Na MRI of human knee cartilage in vivo at 7 Tesla (T). A sensitive (23) Na transceiver array RF coil was developed at 7T. B1 fields generated by the transceiver array coil were characterized and corrected in the (23) Na images. Point spread function (PSF) of the (23) Na images was measured, and the signal decrease due to partial-volume-effect was compensated in [(23) Na] quantification of knee cartilage. SNR and [(23) Na] in anterior femoral cartilage were measured from seven healthy subjects. SNR of (23) Na image with the transceiver array coil was higher than that of birdcage coil. SNR in the cartilage at 2-mm isotropic resolution was 26.80 ± 3.69 (n = 7). B1 transmission and reception fields produced by the DT coil at 7T were similar to each other. Effective full-width-half-maximum of (23) Na image was ∼5 mm at 2-mm resolution. Mean [(23) Na] was 288.13 ± 29.50 mM (n = 7) in the anterior femoral cartilage of normal subjects. We developed a new high-sensitivity (23) Na RF coil for knee MRI at 7T. Our (1) H/(23) Na MRI allowed quantitative measurement of [(23) Na] in knee cartilage by measuring PSF and cartilage thickness from (23) Na and (1) H image, respectively. Copyright © 2013 Wiley Periodicals, Inc.

Quantification of Sodium (Na) in Bone with in Vivo Neutron Activation Analysis (IVNAA) and Its Implications on Na Retention Studies

NASA Astrophysics Data System (ADS)

Coyne, Mychaela

The locations of Na storage and its exchange mechanisms in different tissues in the body are not well known. This information is important for understanding the impact of Na intake, absorption, and retention on human health, especially on the risk of developing chronic diseases like hypertension. In order to non-invasively quantify Na in bone, a compact deuterium-deuterium (DD) neutron generator-based IVNAA system was developed for use in Na nutrition studies. This thesis will first discuss the optimization of the system using MCNP to maximize the thermal neutron flux inside the irradiation cave while limiting radiation exposure to the hand and the whole body. With optimized assembly in place, an animal study was conducted to investigate the storage and exchange of Na in the body. The right posterior legs of two live pigs, one on a low Na diet and one on a high Na diet, were irradiated inside the customized assembly and then measured with a 100% high efficiency high purity germanium detector (HPGe). The results show that the difference in concentration between the pigs on high vs low Na diets was distinguishable with the system. Analysis also shows rapid exchange of Na in the leg during the first 2 hour measurements (with an exchange decay time of 1.3 hours) while the exchange was minimal at the second and third 2 hour measurements, taken 7 and 21 hours post irradiation. With these results, we conclude there is a non or low exchangeable compartment (likely to be bone) for Na storage and that the DD neutron generator-based IVNAA is a useful method in Na nutrition studies.

Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review.

PubMed

Carlsson, G; Fasth, A

2001-07-01

In 1956 Rolf Kostmann reported on six children with severe neutropenia associated with a block in myelopoiesis at the promyelocyte/myelocyte stage and an autosomal recessive inheritance. He named the new syndrome infantile genetic agranulocytosis. Today it is known as Kostmann's syndrome or severe congenital neutropenia. In 1975 an additional 10 cases from northern Sweden were published. This article reports on the only long-term survivor from the 1975 report plus another five patients born after 1975 who belong to the original "Kostmann family". Treatment and survival have changed dramatically since Kostmann's first publication. In the pre-antibiotic era, Kostmann's syndrome was inevitably fatal during the first year of life. Since the introduction of recombinant human granulocyte colony-stimulating factor (G-CSF) about 10 y ago, most patients now enjoy a normal life span and a greatly improved quality of life. Although the threat of death has disappeared, patients still have problems with infections, especially chronic gingivitis and periodontitis. In other groups of severe neutropenia, not related to the original "Kostmann family", an increased incidence of myeloid leukaemia has been observed. However, in this small cohort none of the children on chronic G-CSF therapy have developed malignancies.

Na(+) transport, and the E(1)P-E(2)P conformational transition of the Na(+)/K(+)-ATPase.

PubMed Central

Babes, A; Fendler, K

2000-01-01

We have used admittance analysis together with the black lipid membrane technique to analyze electrogenic reactions within the Na(+) branch of the reaction cycle of the Na(+)/K(+)-ATPase. ATP release by flash photolysis of caged ATP induced changes in the admittance of the compound membrane system that are associated with partial reactions of the Na(+)/K(+)-ATPase. Frequency spectra and the Na(+) dependence of the capacitive signal are consistent with an electrogenic or electroneutral E(1)P <--> E(2)P conformational transition which is rate limiting for a faster electrogenic Na(+) dissociation reaction. We determine the relaxation rate of the rate-limiting reaction and the equilibrium constants for both reactions at pH 6.2-8.5. The relaxation rate has a maximum value at pH 7.4 (approximately 320 s(-1)), which drops to acidic (approximately 190 s(-1)) and basic (approximately 110 s(-1)) pH. The E(1)P <--> E(2)P equilibrium is approximately at a midpoint position at pH 6.2 (equilibrium constant approximately 0.8) but moves more to the E(1)P side at basic pH 8.5 (equilibrium constant approximately 0.4). The Na(+) affinity at the extracellular binding site decreases from approximately 900 mM at pH 6.2 to approximately 200 mM at pH 8.5. The results suggest that during Na(+) transport the free energy supplied by the hydrolysis of ATP is mainly used for the generation of a low-affinity extracellular Na(+) discharge site. Ionic strength and lyotropic anions both decrease the relaxation rate. However, while ionic strength does not change the position of the conformational equilibrium E(1)P <--> E(2)P, lyotropic anions shift it to E(1)P. PMID:11053130

The effect of subclinical infantile thiamine deficiency on motor function in preschool children.

PubMed

Harel, Yael; Zuk, Luba; Guindy, Michal; Nakar, Orly; Lotan, Dafna; Fattal-Valevski, Aviva

2017-10-01

We investigated the long-term implications of infantile thiamine (vitamin B1) deficiency on motor function in preschoolers who had been fed during the first 2 years of life with a faulty milk substitute. In this retrospective cohort study, 39 children aged 5-6 years who had been exposed to a thiamine-deficient formula during infancy were compared with 30 age-matched healthy children with unremarkable infant nutritional history. The motor function of the participants was evaluated with The Movement Assessment Battery for Children (M-ABC) and the Zuk Assessment. Both evaluation tools revealed statistically significant differences between the exposed and unexposed groups for gross and fine motor development (p < .001, ball skills p = .01) and grapho-motor development (p = .004). The differences were especially noteworthy on M-ABC testing for balance control functioning (p < .001, OR 5.4; 95% CI 3.4-7.4) and fine motor skills (p < .001, OR 3.2; 95% CI 1.8-4.6). In the exposed group, both assessments concurred on the high rate of children exhibiting motor function difficulties in comparison to unexposed group (M-ABC: 56% vs. 10%, Zuk Assessment: 59% vs. 3%, p < .001). Thiamine deficiency in infancy has long-term implications on gross and fine motor function and balance skills in childhood, thiamine having a crucial role in normal motor development. The study emphasizes the importance of proper infant feeding and regulatory control of breast milk substitutes. © 2017 John Wiley & Sons Ltd.

Magnetic upconverting fluorescent NaGdF4:Ln3+ and iron-oxide@NaGdF4:Ln3+ nanoparticles

NASA Astrophysics Data System (ADS)

Shrivastava, Navadeep; Rocha, Uéslen; Muraca, Diego; Jacinto, Carlos; Moreno, Sergio; Vargas, J. M.; Sharma, S. K.

2018-05-01

Microwave assisted solvothermal method has been employed to synthesize multifunctional upconverting β-NaGdF4:Ln3+ and magnetic-upconverting Fe3O4/γ-Fe2O3@NaGdF4:Ln3+ (Ln = Yb and Er) nanoparticles. The powder x-ray diffraction data confirms the hexagonal structure of NaGdF4:Ln3+ and high resolution transmission electron microscopy shows the formation of rod shaped NaGdF4:Ln3+ (˜ 20 nm) and ovoid shaped Fe3O4/γ-Fe2O3@NaGdF4:Ln3+ (˜ 15 nm) nanoparticles. The magnetic hysteresis at 300 K for β-NaGdF4:Ln3+ demonstrates paramagnetic features, whereas iron-oxide@β-NaGdF4:Ln3+ exhibits superparamagnetic behavior along with a linear component at large applied field due to paramagnetic NaGdF4 matrix. Both nanoparticle samples provide an excellent green emitting [(2H11/2, 4S3/2)→4I15/2 (˜ 540 nm)] upconversion luminescence emission under excitation at 980 nm. The energy migration between Yb and Er in NaGdF4 matrix has been explored from 300-800 nm. Intensity variation of blue, green and red lines and the observed luminescence quenching due to the presence of Fe3O4/γ-Fe2O3 in the composite has been proposed. These kinds of materials contain magnetic and luminescence characteristics into single nanoparticle open new possibility for bioimaging applications.

Maintaining the NA atmosphere of Mercury

NASA Astrophysics Data System (ADS)

Killen, R. M.; Morgan, T. H.

1993-02-01

The possible sources of the Na atmosphere of Mercury are calculatively studied. The likely structure, composition, and temperature of the planet's upper crust is examined along with the probable flux of Na from depth by grain boundary diffusion and by Knudsen flow. The creation of fresh regolith is considered along with mechanisms for supplying Na from the surface to the exosphere. The implications of the calculations for the probable abundances in the regolith are discussed.

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

PubMed

Lev, Dorit; Weigl, Yuval; Hasan, Mariana; Gak, Eva; Davidovich, Michael; Vinkler, Chana; Leshinsky-Silver, Esther; Lerman-Sagie, Tally; Watemberg, Nathan

2007-05-01

Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness and in some cases, mental retardation and deafness. Other neurological complications, particularly epilepsy, are rare. We report on a novel mutation identified in a patient with ND and profound mental retardation. The patient was diagnosed at the age of 6 months due to congenital blindness. At the age of 8 months he developed infantile spasms, which were diagnosed at 11 months as his EEG demonstrated hypsarrhythmia. Mutation analysis of the ND gene (NDP) of the affected child and his mother revealed a novel missense mutation at position c.134T > A resulting in amino acid change at codon V45E. To the best of our knowledge, such severe neurological involvement has not been previously reported in ND patients. The severity of the phenotype may suggest the functional importance of this site of the NDP gene.

The plant vacuolar Na+/H+ antiport.

PubMed

Barkla, B J; Apse, M P; Manolson, M F; Blumwald, E

1994-01-01

Salt stress imposes severe limitations on plant growth, however, the extent of growth reduction depends upon the soil salinity level and the plant species. One of the mechanisms employed by salt tolerant plants is the effective vacuolar compartmentalization of sodium. The sequestration of sodium into the vacuole occurs by the operation of a Na+/H+ antiport located at the tonoplast. Evidence for a plant vacuolar Na+/H+ antiport has been demonstrated in tissues, intact vacuoles and isolated tonoplast vesicles. In sugar beet cell suspensions, the activity of the vacuolar Na+/H+ antiport increased with increasing NaCl concentrations in the growth medium. This increased activity was correlated with the increased synthesis of a 170 kDa tonoplast polypeptide. In vivo labelling of tonoplast proteins showed the enhanced synthesis of the 170 kDa polypeptide not only upon exposure of the cells to salt, but also when the cells were grown in the presence of amiloride. Exposure of the cells to amiloride also resulted in increased vacuolar Na+/H+ antiport activity. Polyclonal antibodies raised against the 170 kDa polypeptide almost completely inhibited the antiport activity, suggesting the association of this protein with the plant vacuolar Na+/H+ antiport. Antibodies against the Na+/H+ antiport-associated polypeptide were used to screen a Beta lambda ZAP expression library. A partial clone of 1.65 kb was sequenced and found to encode a polypeptide with a putative transmembrane domain and a large hydrophilic C terminus. This clone showed no homology to any previously cloned gene at either the nucleic acid or the amino acid level.

Thermodynamic description of Tc(iv) solubility and carbonate complexation in alkaline NaHCO3-Na2CO3-NaCl systems.

PubMed

Baumann, A; Yalçıntaş, E; Gaona, X; Polly, R; Dardenne, K; Prüßmann, T; Rothe, J; Altmaier, M; Geckeis, H

2018-03-28

The solubility of 99 Tc(iv) was investigated in dilute to concentrated carbonate solutions (0.01 M ≤ C tot ≤ 1.0 M, with C tot = [HCO 3 - ] + [CO 3 2- ]) under systematic variation of ionic strength (I = 0.3-5.0 M NaHCO 3 -Na 2 CO 3 -NaCl-NaOH) and pH m (-log[H + ] = 8.5-14.5). Strongly reducing conditions (pe + pH m ≈ 2) were set with Sn(ii). Carbonate enhances the solubility of Tc(iv) in alkaline conditions by up to 3.5 log 10 -units compared to carbonate-free systems. Solvent extraction and XANES confirmed that Tc was kept as +IV during the timeframe of the experiments (≤ 650 days). Solid phase characterization performed by XAFS, XRD, SEM-EDS, chemical analysis and TG-DTA confirmed that TcO 2 ·0.6H 2 O(am) controls the solubility of Tc(iv) under the conditions investigated. Slope analysis of the solubility data in combination with solid/aqueous phase characterization and DFT calculations indicate the predominance of the species Tc(OH) 3 CO 3 - at pH m ≤ 11 and C tot ≥ 0.01 M, for which thermodynamic and activity models are derived. Solubility data obtained above pH m ≈ 11 indicates the formation of previously unreported Tc(iv)-carbonate species, possibly Tc(OH) 4 CO 3 2- , although the likely formation of additional complexes prevents deriving a thermodynamic model valid for this pH m -region. This work provides the most comprehensive thermodynamic dataset available for the system Tc 4+ -Na + -Cl - -OH - -HCO 3 - -CO 3 2- -H 2 O(l) valid under a range of conditions relevant for nuclear waste disposal.

Laser treatment of infantile hemangioma: A systematic review.

PubMed

Chinnadurai, Sivakumar; Sathe, Nila A; Surawicz, Tanya

2016-03-01

To systematically review studies of laser treatment of infantile hemangioma (IH). We searched multiple databases including MEDLINE® and EMBASE from 1982 to June 2015. Two investigators independently screened studies against predetermined criteria and extracted key data. Investigators independently assessed study risk of bias and the strength of the evidence of the body of literature. We identified 29 studies addressing lasers: 4 randomized controlled trials, 8 retrospective cohort studies, and 17 case series. Lasers varied across studies in type, pulse width, or cooling materials. Most comparative studies (n = 9) assessed variations of pulsed dye laser (PDL) and examined heterogeneous endpoints. Most studies reported on treatment of cutaneous lesions. Overall, longer pulse PDL with epidermal cooling was the most commonly used laser for cutaneous lesions; Nd:YAG was the most commonly used intralesionally. Most studies reported a higher success rate with longer pulse PDL compared with observation in managing the size of IH, although the magnitude of effect differed substantially. CO2 laser was used for subglottic IH in a single study, and was noted to have a higher success rate and lower complication rate than both Nd:YAG and observation. Studies comparing laser with β-blockers or in combination with β-blockers reported greater improvements in lesion size in combination arms versus β-blockers alone and greater effects of lasers on mixed superficial and deep IH. Strength of the evidence for outcomes after laser treatments ranged from insufficient to low for effectiveness outcomes. Strength of the evidence was insufficient for the effects of laser compared with β-blockers or in combination with β-blockers as studies evaluated different agents and laser types. Studies assessing outcomes after CO2 and Nd:YAG lasers typically reported some resolution of lesion size, but heterogeneity among studies limits our abilities to draw conclusions. Studies of laser

The Na+-Responsive ntp Operon Is Indispensable for Homeostatis of K+ and Na+ in Enterococcus hirae at Limited Proton Potential

PubMed Central

Kawano, Miyuki; Igarashi, Kazuei; Kakinuma, Yoshimi

1998-01-01

Enterococcus hirae ATCC 9790 grew well in Na+-deficient, low-K+ medium, but growth was inhibited by carbonylcyanide m-chlorophenylhydrazone (CCCP). Growth inhibition and decrease of cellular K+ levels in the presence of CCCP were relieved by the addition of Na+ and a high concentration of K+. In contrast, in the mutant defective in Na+-ATPase or the NtpJ component of the KtrII K+ uptake system, CCCP-induced growth inhibition was rescued by a high concentration of K+ but not of Na+. These transporters are thus indispensable for homeostatis of K+ and Na+ at low proton potential. PMID:9733699

Infantile osteopetrosis and juvenile xanthogranuloma presenting together in a newborn: a case report and literature review.

PubMed

Almarzooqi, Saeeda; Reed, Suzanne; Fung, Bonita; Boué, Daniel R; Prasad, Vinay; Pietryga, Daniel

2011-01-01

Osteopetrosis (OP) is a clinically and genetically heterogeneous disorder characterized by increased bone density. Associations between OP and other clinical entities are rare but include muscular degeneration, Dandy-Walker syndrome, craniosynostosis, and poikiloderma. Infantile OP has also been diagnosed in a group of infants with neuronal storage disease. An association between OP and juvenile xanthogranuloma (JXG) has never been previously reported. Herein we present a case of an intermediate form of OP in a newborn who presented with hepatosplenomegaly and pancytopenia. Histologic evaluation of a bone marrow biopsy demonstrated abnormally thickened bony trabeculae. A liver biopsy demonstrated prominent expansion of portal areas by a histiocytic infiltrate expressing CD45, CD14, CD68, CD163, factor XIIIa, and fascin, while the biopsy was negative for S100 and CD1a. These findings were those associated with JXG. Genetic testing demonstrated a mutation involving the Pleckstrin homology domain-containing family M member 1 ( PLEKHM1 ) gene. A different mutation in this gene has been previously reported in one other patient with OP. Our case is the 2nd reported case with PLEKHM1 mutation in a patient with a mild form of OP. It also demonstrates the 1st reported occurrence of OP concomitantly with JXG.

Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.

PubMed

Tarnopolsky, Mark; Meaney, Brandon; Robinson, Brian; Sheldon, Katherine; Boles, Richard G

2013-08-01

We describe a case of severe infantile-onset complex I deficiency in association with an apparent de novo near-homoplasmic mutation (m.14487T>C) in the mitochondrial ND6 gene, which was previously associated with Leigh syndrome and other neurological disorders. The mutation was near-homoplasmic in muscle by NextGen sequencing (99.4% mutant), homoplasmic in muscle by Sanger sequencing, and it was associated with a severe complex I deficiency in both muscle and fibroblasts. This supports previous data regarding Leigh syndrome being on the severe end of a phenotypic spectrum including progressive myoclonic epilepsy, childhood-onset dystonia, bilateral striatal necrosis, and optic atrophy, depending on the proportion of mutant heteroplasmy. While the mother in all previously reported cases was heteroplasmic, the mother and brother of this case were homoplasmic for the wild-type, m.14487T. Importantly, the current data demonstrate the potential for cases of mutations that were previously reported to be homoplasmic by Sanger sequencing to be less homoplasmic by NextGen sequencing. This case underscores the importance of considering mitochondrial DNA mutations in families with a negative family history, even in offspring of those who have tested negative for a specific mtDNA mutation. Copyright © 2013 Wiley Periodicals, Inc.

Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.

PubMed

Kurian, Mary; Korff, Christian M; Ranza, Emmanuelle; Bernasconi, Andrea; Lübbig, Anja; Nangia, Srishti; Ramelli, Gian Paolo; Wohlrab, Gabriele; Nordli, Douglas R; Bast, Thomas

2018-01-01

In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH19). We describe the clinical course, and electrographic, imaging, genetic, and neuropathological features in a cohort of female children with pharmacoresistant epilepsy. All five children (mean age 10y) had an early onset of epilepsy during infancy and a predominance of fever sensitive seizures occurring in clusters. Cognitive impairment was noted in four out of five patients. Radiological evidence of cortical malformations was present in all cases and, in two patients, validated by histology. Sanger sequencing and Multiplex Ligation-dependent Probe Amplification analysis of PCDH19 revealed pathogenic variants in four patients. In one patient, array comparative genomic hybridization showed a microdeletion encompassing PCDH19. We propose molecular testing and analysis of PCDH19 in patients with pharmacoresistant epilepsy, with onset in early infancy, seizures in clusters, and fever sensitivity. Structural lesions are to be searched in patients with PCDH19 pathogenic variants. Further, PCDH19 analysis should be considered in epilepsy surgery evaluation even in the presence of cerebral structural lesions. Focal cortical malformations and monogenic epilepsy syndromes may coexist. Structural lesions are to be searched for in patients with protocadherin 19 (PCDH19) pathogenic variants with refractory focal seizures. © 2017 Mac Keith Press.

Findings from the use of a narrative story and leaflet to influence shifts along the behavior change continuum toward postpartum contraceptive uptake in Sylhet District, Bangladesh.

PubMed

Cooper, Chelsea M; Ahmed, Salahuddin; Winch, Peter J; Pfitzer, Anne; McKaig, Catharine; Baqui, Abdullah H

2014-12-01

Postpartum women face uncertainty about timing of return to fecundity. Many women wait to use contraception until menses return, resulting in unintended pregnancies. This study explored the use of behavior change communication to address perceptions of postpartum return to fecundity and contraceptive adoption. This study, which took place in Sylhet District in Bangladesh, explored knowledge and perceptions about postpartum return to fecundity and used the Steps to Behavior Change framework to assess the reported influence of a leaflet and fictional story ("Asma's Story") incorporated within community health activities. The study relied on in- depth interviews and focus group discussions. The study revealed nearly universal exposure to Asma's Story. Reported shifts in perceived susceptibility to pregnancy, benefits of pregnancy spacing, and increased social support for postpartum family planning (PPFP) were noted. However, only approximately one third of women were using a modern contraceptive method. Using a fictional story offers a promising approach for motivating shifts along the continuum. It is recommended that Asma's Story be incorporated within future efforts to scale up PPFP in Bangladesh, and that similar approaches be tailored and tested in other countries. Copyright © 2014 The Authors. Published by Elsevier Ireland Ltd.. All rights reserved.

Growth and characterization of struvite-Na crystals

NASA Astrophysics Data System (ADS)

Chauhan, Chetan K.; Joshi, Mihirkumar J.

2014-09-01

Sodium magnesium phosphate heptahydrate [NaMgPO4·7H2O], also known as struvite-Na, is the sodium analog to struvite. Among phosphate containing bio-minerals, struvite has attracted considerable attention, because of its common occurrence in a wide variety of environments. Struvite and family crystals were found as urinary calculi in humans and animals. Struvite-Na crystals were grown by a single diffusion gel growth technique in a silica hydro gel medium. Struvite-Na crystals with different morphologies having transparent to translucent diaphaneity were grown with different growth parameters. The phenomenon of Liesegang rings was also observed with some particular growth parameters. The powder XRD study confirmed the structural similarity of the grown struvite-Na crystals with struvite and found that struvite-Na crystallized in the orthorhombic Pmn21 space group with unit cell parameters such as a= 6.893 Å, b=6.124 Å, c=11.150 Å, and α=β=γ=90°. FT-IR spectra of struvite-Na crystals revealed the presence of functional groups. The TGA, DTA and DSC were carried out simultaneously. The kinetic and thermodynamic parameters of dehydration/decomposition process were calculated. The variation of dielectric constant with frequency of applied field was studied in the range from 400 Hz to 100 kHz.

23Na and 35/37Cl as NMR probes of growth and shape of sodium taurodeoxycholate micellar aggregates in the presence of NaCl.

PubMed

Asaro, Fioretta; Feruglio, Luigi; Galantini, Luciano; Nardelli, Alessia

2013-02-15

The growth of the aggregates of the dihydroxylated bile salt sodium taurodeoxycholate (NaTDC) upon NaCl addition and the involvement of the counterion were investigated by NMR spectroscopy of monoatomic ionic species. (23)Na T(1) values from 0.015, 0.100, and 0.200 mol kg(-1) NaTDC solutions in D(2)O, at variable NaCl content, proved to be sensitive to the transition from primary to secondary aggregates, which occurs in the former sample, and to intermicellar interaction. Some (79)Br NMR measurements were performed on a 0.100 mol kg(-1) NaTDC sample added by NaBr in place of NaCl for comparison purposes. The (23)Na, (35)Cl, and (37)Cl double quantum filtered (DQF) patterns, from the 0.100 mol kg(-1) NaTDC sample, and (23)Na ones also from the 0.200 mol kg(-1) NaTDC one, in the presence of 0.750 mol kg(-1) NaCl, are a clear manifestation of motional anisotropy. Moreover, the DQF spectra of (23)Na and (37)Cl, which possess close quadrupole moments, display a striking similarity. The DQF lineshapes were simulated exploiting the Scilab environment to obtain an estimate of the residual quadrupole splitting magnitude. These results support the description of NaTDC micelles as cylindrical aggregates, strongly interacting at high ionic strengths, and capable of association with added electrolytes. Copyright © 2012 Elsevier Inc. All rights reserved.

Robust high pressure stability and negative thermal expansion in sodium-rich antiperovskites Na 3OBr and Na 4OI 2

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

Wang, Yonggang; Wen, Ting; Park, Changyong

2016-01-14

The structure stability under high pressure and thermal expansion behavior of Na 3OBr and Na 4OI 2, two prototypes of alkali-metal-rich antiperovskites, were investigated by in situ synchrotron X-ray diffraction techniques under high pressure and low temp. Both are soft materials with bulk modulus of 58.6 GPa and 52.0 GPa for Na 3OBr and Na 4OI 2, resp. The cubic Na 3OBr structure and tetragonal Na 4OI 2 with intergrowth K 2NiF 4 structure are stable under high pressure up to 23 GPa. Although being a characteristic layered structure, Na 4OI 2 exhibits nearly isotropic compressibility. Neg. thermal expansion wasmore » obsd. at low temp. range (20-80 K) in both transition-metal-free antiperovskites for the first time. The robust high pressure structure stability was examined. and confirmed by first-principles calculations. among various possible polymorphisms qualitatively. The results provide in-depth understanding of the neg. thermal expansion and robust crystal structure stability of these antiperovskite systems and their potential applications.« less

Europlanet NA2 Science Networking

NASA Astrophysics Data System (ADS)

Harri, Ari-Matti; Szego, Karoly; Genzer, Maria; Schmidt, Walter; Krupp, Norbert; Lammer, Helmut; Kallio, Esa; Haukka, Harri

2013-04-01

Europlanet RI / NA2 Science Networking [1] focused on determining the major goals of current and future European planetary science, relating them to the Research Infrastructure that the Europlanet RI project [2] developed, and placing them in a more global context. NA2 also enhanced the ability of European planetary scientists to participate on the global scene with their own agenda-setting projects and ideas. The Networking Activity NA2 included five working groups, aimed at identifying key science issues and producing reference books on major science themes that will bridge the gap between the results of present and past missions and the scientific preparation of the future ones. Within the Europlanet RI project (2009-2012) the NA2 and NA2-WGs organized thematic workshops, an expert exchange program and training groups to improve the scientific impact of this Infrastructure. The principal tasks addressed by NA2 were: • Science activities in support to the optimal use of data from past and present space missions, involving the broad planetary science community beyond the "space club" • Science activities in support to the preparation of future planetary missions: Earth-based preparatory observations, laboratory studies, R&D on advanced instrumentation and exploration technologies for the future, theory and modeling etc. • Develop scientific activities, joint publications, dedicated meetings, tools and services, education activities, engaging the public and industries • Update science themes and addressing the two main scientific objectives • Prepare and support workshops of the International Space Science Institute (ISSI) in Bern and • Support Trans National Activities (TNAs), Joined Research Activities (JRAs) and the Integrated and Distributed Information Service (IDIS) of the Europlanet project These tasks were achieved by WG workshops organized by the NA2 working groups, by ISSI workshops and by an Expert Exchange Program. There were 17 official WG

Infantile anorexia, co-excitation and co-mastery in the parent/baby cathexis: The contribution of Sigmund and Anna Freud.

PubMed

Cascales, Thomas

2017-04-01

Recent epidemiological studies show that 2% of babies in ordinary paediatric clinics suffer from infantile anorexia. In the first part of this paper we present a case study from our hospital clinical activity. Our framework combines clinical psychoanalytic sessions and perinatal videos. In the second part, we will focus on the concepts of instinct and excitation proposed by Sigmund Freud and the concept of mastery proposed by Anna Freud. In the third part, we will examine these concepts in the light of the case study. The fourth part is devoted to clinical recommendations from our hospital psychoanalytic practice. In conclusion, unlike other clinical settings, the psychoanalytic setting allows for the elaboration of the parental hatred included in the libidinal cathexis. Our psychoanalytic setting (sessions/videos) makes it possible to decontaminate parental intrapsychic elements overloaded with excitement, saturated with hate elements, and rendered sterile by the instinct for mastery. An initial part of the treatment process involves working through the intersubjective elements observed in the video. Copyright © 2016 Institute of Psychoanalysis.

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency.

PubMed

Farhan, Sali M K; Wang, Jian; Robinson, John F; Lahiry, Piya; Siu, Victoria M; Prasad, Chitra; Kronick, Jonathan B; Ramsay, David A; Rupar, C Anthony; Hegele, Robert A

2014-01-01

Iron-sulfur (Fe-S) clusters are a class of highly conserved and ubiquitous prosthetic groups with unique chemical properties that allow the proteins that contain them, Fe-S proteins, to assist in various key biochemical pathways. Mutations in Fe-S proteins often disrupt Fe-S cluster assembly leading to a spectrum of severe disorders such as Friedreich's ataxia or iron-sulfur cluster assembly enzyme (ISCU) myopathy. Herein, we describe infantile mitochondrial complex II/III deficiency, a novel autosomal recessive mitochondrial disease characterized by lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, multisystem organ failure and abnormal mitochondria. Through autozygosity mapping, exome sequencing, in silico analyses, population studies and functional tests, we identified c.215G>A, p.Arg72Gln in NFS1 as the likely causative mutation. We describe the first disease in man likely caused by deficiency in NFS1, a cysteine desulfurase that is implicated in respiratory chain function and iron maintenance by initiating Fe-S cluster biosynthesis. Our results further demonstrate the importance of sufficient NFS1 expression in human physiology.

Effects of topical brinzolamide on infantile nystagmus syndrome waveforms: eyedrops for nystagmus.

PubMed

Dell'osso, Louis F; Hertle, Richard W; Leigh, R John; Jacobs, Jonathan B; King, Susan; Yaniglos, Stacia

2011-09-01

Recent advances in infantile nystagmus syndrome (INS) surgery have uncovered the therapeutic importance of proprioception. In this report, we test the hypothesis that the topical carbonic anhydrase inhibitor (CAI) brinzolamide (Azopt) has beneficial effects on measures of nystagmus foveation quality in a subject with INS. Eye movement data were taken, using a high-speed digital video recording system, before and after 3 days of the application of topical brinzolamide 3 times daily in each eye. Nystagmus waveforms were analyzed by applying the eXpanded Nystagmus Acuity Function (NAFX) at different gaze angles and determining the longest foveation domain (LFD) and compared to previously published data from the same subject after the use of a systemic CAI, contact lenses, and convergence and to other subjects before and after eye muscle surgery for INS. Topical brinzolamide improved foveation by both a 51.9% increase in the peak value of the NAFX function (from 0.395 to 0.600) and a 50% broadening of the NAFX vs Gaze Angle curve (the LFD increased from 20° to 30°). The improvements in NAFX after topical brinzolamide were equivalent to systemic acetazolamide or eye muscle surgery and were intermediate between those of soft contact lenses or convergence. Topical brinzolamide and contact lenses had equivalent LFD improvements and were less effective than convergence. In this subject with INS, topical brinzolamide resulted in improved-foveation INS waveforms over a broadened range of gaze angles. Its therapeutic effects were equivalent to systemic CAI. Although a prospective clinical trial is needed to prove efficacy or effectiveness in other subjects, an eyedrops-based therapy for INS may emerge as a viable addition to optical, surgical, behavioral, and systemic drug therapies.

Quality of life in children with infantile hemangioma: a case control study.

PubMed

Wang, Chuan; Li, Yanan; Xiang, Bo; Xiong, Fei; Li, Kai; Yang, Kaiying; Chen, Siyuan; Ji, Yi

2017-11-16

Infantile hemangioma (IH) is the most common vascular tumor in children. It is controversial whether IHs has effects on the quality of life (QOL) in patients of whom IH poses no threat or potential for complication. Thus, we conducted this study to evaluate the q QOL in patients with IH and find the predictors of poor QOL. The PedsQL 4.0 Genetic Core Scales and the PedsQL family information form were administered to parents of children with IH and healthy children both younger than 2-year-old. The quality-of-life instrument for IH (IH-QOL) and the PedsQL 4.0 family impact module were administered to parents of children with IH. We compared the PedsQL 4.0 Genetic Core Scales (GCIS) scores of the two groups. Multiple step-wise regression analysis was used to determine factors that influenced QOL in children with IH and their parents. Except for physical symptom, we found no significant difference in GCIS between patient group and healthy group (P = 0.409). The internal reliability of IH-QOL was excellent with the Cronbach's alpha coefficient for summary scores being 0.76. Multiple step-wise regression analysis showed that the predictors of poor IH-QOL total scores were hemangioma size, location, and mother's education level. The predictors of poor FIM total scores were hemangioma location and father's education level. The predictors of poor GCIS total scores were children's age, hemangioma location and father's education level. The findings support the feasibility and reliability of the Chinese version of IH-QOL to evaluate the QOL in children with IH and their parents. Hemangioma size, location and education level of mother are important impact factors for QOL in children with IH and their parents.

Na+-dependent and Na+-independent betaine transport across the apical membrane of rat renal epithelium.

PubMed

Cano, Mercedes; Calonge, María L; Ilundáin, Anunciación A

2015-10-01

The low renal excretion of betaine indicates that the kidney efficiently reabsorbs the betaine filtered by the glomeruli but the mechanisms involved in such a process have been scarcely investigated. We have detected concentrative and non-concentrative betaine transport activity in brush-border membrane vesicles (BBMV) from rat renal cortex and medulla. The concentrative system is the Sodium/Imino-acid Transporter 1 (SIT1) because it is Na+- and Cl--dependent, electrogenic and is inhibited by an anti-SIT1 antibody. Its apparent affinity constant for betaine, Kt, is 1.1±0.5 mM and its maximal transport velocity, Vmax, 0.5±0.1 nmol betaine/mg protein/s. Inhibitors of the Na+/Cl-/betaine uptake are L-proline (75%) and cold betaine, L-carnitine and choline (40-60%). Neither creatine, TEA, taurine, β-alanine, GABA nor glycine significantly inhibited Na+/Cl-/betaine uptake. The non-concentrative betaine transport system is Na+- and H+-independent, electroneutral, with a Kt for betaine of 47±7 μM and a Vmax of 7.8±1 pmol betaine/mg protein/s. Its transport activity is nearly abolished by betaine, followed by L-carnitine (70-80%) and proline (40-50%), but a difference from the Na+/Cl-/betaine transport is that it is inhibited by TEA (approx. 50%) and unaffected by choline. The underlying carrier functions as an antiporter linking betaine entry into the BBMV with the efflux of either L-carnitine or betaine, an exchange unaffected by the anti-SIT1 antibody. As far as we know this is the first work reporting that betaine crosses the apical membrane of rat renal epithelium by SIT1 and by a Na+- and H+-independent transport system. Copyright © 2015 Elsevier B.V. All rights reserved.

Fabrication of Na0.7MnO2/C composite cathode material by simple heat treatment for high-power na-ion batteries

NASA Astrophysics Data System (ADS)

Sohn, DongRak; Lim, Sung-Jin; Nam, Do-Hwan; Hong, Kyung-Sik; Kim, Tae-Hee; Oh, SeKwon; Eom, Ji-Yong; Cho, EunAe; Kwon, HyukSang

2018-01-01

A Na0.7MnO2/C composite cathode material is synthesized by simple and costeffective two-step heat treatment for an improvement in the rate capability of Na0.7MnO2. The first heat treatment is to synthesize Na0.7MnO2, and the second one is a low temperature annealing at 350 °C for 1 h in air, which is necessary to suppress an interfacial reaction between the Na0.7MnO2 and C in the synthesis process of Na0.7MnO2/C composite. Structural analyses by XRD and XPS reveal that the Na0.7MnO2/C shows the same structural properties as that of the pristine Na0.7MnO2, and hence they exhibit the same initial discharge capacity of 175 mAh g-1 at 20 mA g-1. At a current density of 400 mA g-1, the discharge capacity of Na0.7MnO2 reduces to 50 mAh g-1 (28% of the initial discharge capacity), whereas that of Na0.7MnO2/C reduces to 108 mAh g-1 (61% of the initial discharge capacity). The enhanced rate capability of the Na0.7MnO2/C is attributed to the conductive carbon layer formed on the surface of Na0.7MnO2 particles, enabling the facile transport of electrons from the current collector to the surface of the Na0.7MnO2 particles. [Figure not available: see fulltext.

Dramatic increase in naïve T cell turnover is linked to loss of naïve T cells from old primates

PubMed Central

Čičin-Šain, Luka; Messaoudi, Ilhem; Park, Byung; Currier, Noreen; Planer, Shannon; Fischer, Miranda; Tackitt, Shane; Nikolich-Žugich, Dragana; Legasse, Alfred; Axthelm, Michael K.; Picker, Louis J.; Mori, Motomi; Nikolich-Žugich, Janko

2007-01-01

The loss of naïve T cells is a hallmark of immune aging. Although thymic involution is a primary driver of this naïve T cell loss, less is known about the contribution of other mechanisms to the depletion of naïve T cells in aging primates. We examined the role of homeostatic cycling and proliferative expansion in different T cell subsets of aging rhesus macaques (RM). BrdU incorporation and the expression of the G1-M marker Ki-67 were elevated in peripheral naïve CD4 and even more markedly in the naïve CD8 T cells of old, but not young adult, RM. Proliferating naïve cells did not accumulate in old animals. Rather, the relative size of the naïve CD8 T cell compartment correlated inversely to its proliferation rate. Likewise, T cell receptor diversity decreased in individuals with elevated naïve CD8 T cell proliferation. This apparent contradiction was explained by a significant increase in turnover concomitant with the naïve pool loss. The turnover increased exponentially when the naïve CD8 T cell pool decreased below 4% of total blood CD8 cells. These results link the shrinking naïve T cell pool with a dramatic increase in homeostatic turnover, which has the potential to exacerbate the progressive exhaustion of the naïve pool and constrict the T cell repertoire. Thus, homeostatic T cell proliferation exhibits temporal antagonistic pleiotropy, being beneficial to T cell maintenance in adulthood but detrimental to the long-term T cell maintenance in aging individuals. PMID:18056811

Na0.44MnO2 nanorods as a cathode material for Na-ion batteries

NASA Astrophysics Data System (ADS)

Avci, Sevda; Oz, Erdinc; Demirel, Serkan; Altin, Emine; Altin, Serdar; Bayri, Ali; Yakinci, Eyyuphan

2014-03-01

Lithium-ion batteries have dominated the rechargeable battery market because of their high energy and power capability. On the other hand, sodium is one of the more abundant elements on Earth unlike Li. Moreover, Na has similar chemical properties to Li, indicating that Na-ion batteries can be an alternative to Li counterparts. With that respect, we have synthesized Na0.44MnO2 nanorods as cathode materials for Na-ion batteries. We have investigated the effects of structural, electrical, and magnetic properties on battery performance. We report the synthesis conditions and growth mechanism of the nanorods. The structure and the morphology of the materials were investigated by X-ray diffraction (XRD), scanning electron microscopy (SEM), energy-dispersive X-ray (EDX), and atomic force microscopy (AFM) techniques. Temperature dependent structural changes were determined via in situ X-ray diffraction and TG-DTA measurements showing structural changes above room temperature. This work is funded by The Scientific and Technological Research Council of Turkey with Grant No:112M487.

Modulation of contraction by intracellular Na+ via Na(+)-Ca2+ exchange in single shark (Squalus acanthias) ventricular myocytes.

PubMed Central

Näbauer, M; Morad, M

1992-01-01

1. The effect of direct alteration of intracellular Na+ concentration on contractile properties of whole-cell clamped shark ventricular myocytes was studied using an array of 256 photodiodes to monitor the length of the isolated myocytes. 2. In myocytes dialysed with Na(+)-free solution, the voltage dependence of Ca2+ current (ICa) and contraction were similar and bell shaped. Contractions activated at all voltages were completely suppressed by nifedipine (5 microM), and failed to show significant tonic components, suggesting dependence of the contraction on Ca2+ influx through the L-type Ca2+ channel. 3. In myocytes dialysed with 60 mM Na+, a ICa-dependent and a ICa-independent component of contraction could be identified. The Ca2+ current-dependent component was prominent in voltages between -30 to +10 mV. The ICa-independent contractions were maintained for the duration of depolarization, increased with increasing depolarization between +10 to +100 mV, and were insensitive to nifedipine. 4. In such myocytes, repolarization produced slowly decaying inward tail currents closely related to the time course of relaxation and the degree of shortening prior to repolarization. 5. With 60 mM Na+ in the pipette solution, positive clamp potentials activated decaying outward currents which correlated to the size of contraction. These outward currents appeared to be generated by the Na(+)-Ca(2+)-exchanger since they depended on the presence of intracellular Na+, and were neither suppressed by nifedipine nor by K+ channel blockers. 6. The results suggest that in shark (Squalus acanthias) ventricular myocytes, which lack functionally relevant Ca2+ release pools, both Ca2+ channel and the Na(+)-Ca2+ exchanger deliver sufficient Ca2+ to activate contraction, though the effectiveness of the latter mechanism was highly dependent on the [Na+]i. PMID:1338467