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.

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

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.

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

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.

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

[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

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

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

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

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.

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

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.

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

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

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.

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

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

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

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.

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.

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.

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…

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 ...

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.

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…

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.

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

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.

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.

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.

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

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.

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.

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

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.

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.

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.

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.

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

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.

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

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

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

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.

[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.

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.

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

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.

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.

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.

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.

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.

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

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

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 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.

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…

An Infantile Case of Transient, Severe Hypercholesterolemia with Normalization after Complete Weaning from Breast-feeding.

PubMed

Yamamoto, Yukiyo; Saito, Reiko; Goto, Motohide; Araki, Shunsuke; Kubo, Kazuyasu; Kawagoe, Rinko; Kawada, Yasusada; Kusuhara, Koichi

2012-04-01

A 20-d-old boy was referred to our department because of hyperthyrotropinemia at neonatal mass screening and diagnosed with neonatal transient hyperthyrotropinemia. A follow-up examination when the patient was 5 mo old revealed severe hypercholesterolemia. Familial hypercholesterolemia was first suspected because of the patient's significantly high levels of total and low-density lipoprotein cholesterol. The parent's serum lipid profiles were examined and found to be normal. He was completely breast-fed until 6 mo of age. Breast milk was still the main source of food for a period following weaning. At 14 mo old, the patient was weaned completely from breast milk, and his serum cholesterol levels decreased dramatically. According to the normal lipid profiles of the patient's parents and the spontaneous normalization of serum cholesterol levels after complete weaning from breast milk, breast-feeding was suggested to be responsible for his transient severe hypercholesterolemia. It is well documented that breast-fed infants have higher serum cholesterol levels than formula-fed infants. However, there is no reported case with severe hypercholesterolemia equivalent to or higher than the levels observed in the case of familial hypercholesterolemia. Although the exact mechanism is unknown, it is necessary to consider that a small number of cases develop severe hypercholesterolemia related to breast-feeding.

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.

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…

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.

PubMed Central

Wang, A M; Schindler, D; Desnick, R

1990-01-01

Schindler disease is a recently recognized infantile neuroaxonal dystrophy resulting from the deficient activity of the lysosomal hydrolase, alpha-N-acetylgalctosaminidase (alpha-GalNAc). The recent isolation and expression of the full-length cDNA encoding alpha-GalNAc facilitated the identification of the molecular lesions in the affected brothers from family D, the first cases described with this autosomal recessive disease. Southern and Northern hybridization analyses of DNA and RNA from the affected homozygotes revealed a grossly normal alpha-GalNAc gene structure and normal transcript sizes and amounts. Therefore, the alpha-GalNAc transcript from an affected homozygote was reverse-transcribed, amplified by the polymerase chain reaction (PCR), and sequenced. A single G to A transition at nucleotide 973 was detected in multiple subclones containing the PCR products. This point mutation resulted in a glutamic acid to lysine substitution in residue 325 (E325K) of the alpha-GalNAc polypeptide. The base substitution was confirmed by dot blot hybridization analyses of PCR-amplified genomic DNA from family members with allele-specific oligonucleotides. Furthermore, transient expression of an alpha-GalNAc construct containing the E325K mutation resulted in the expression of an immunoreactive polypeptide which had no detectable alpha-GalNAc activity. Images PMID:2243144

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

[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.

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.

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.

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.

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

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.

Perceptual Learning in Children With Infantile Nystagmus: Effects on 2D Oculomotor Behavior.

PubMed

Huurneman, Bianca; Boonstra, F Nienke; Goossens, Jeroen

2016-08-01

To determine changes in oculomotor behavior after 10 sessions of perceptual learning on a letter discrimination task in children with infantile nystagmus (IN). Children with IN (18 children with idiopathic IN and 18 with oculocutaneous albinism accompanied by IN) aged 6 to 11 years were divided into two training groups matched on diagnosis: an uncrowded training group (n = 18) and a crowded training group (n = 18). Target letters always appeared briefly (500 ms) at an eccentric location, forcing subjects to quickly redirect their gaze. Training occurred twice per week for 5 consecutive weeks (3500 trials total). Norm data and test-retest values were collected from children with normal vision (n = 11). Outcome measures were: nystagmus characteristics (amplitude, frequency, intensity, and the expanded nystagmus acuity function); fixation stability (the bivariate contour ellipse area and foveation time); and saccadic eye movements (latencies and accuracy) made during a simple saccade task and a crowded letter-identification task. After training, saccadic responses of children with IN improved on the saccade task (latencies decreased by 14 ± 4 ms and gains increased by 0.03 ± 0.01), but not on the crowded letter task. There were also no training-induced changes in nystagmus characteristics and fixation stability. Although children with normal vision had shorter latencies in the saccade task (47 ± 14 ms at baseline), test-retest changes in their saccade gains and latencies were almost equal to the training effects observed in children with IN. Our results suggest that the improvement in visual performance after perceptual learning in children with IN is primarily due to improved sensory processing rather than improved two-dimensional oculomotor behavior.

Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease.

PubMed

Zeng, Yin-Ting; Hwu, Wuh-Liang; Torng, Pao-Chuan; Lee, Ni-Chung; Shieh, Jeng-Yi; Lu, Lu; Chien, Yin-Hsiu

2017-05-01

Patients with infantile-onset Pompe disease (IOPD) can be treated by recombinant human acid alpha glucosidase (rhGAA) replacement beginning at birth with excellent survival rates, but they still commonly present with speech disorders. This study investigated the progress of speech disorders in these early-treated patients and ascertained the relationship with treatments. Speech disorders, including hypernasal resonance, articulation disorders, and speech intelligibility, were scored by speech-language pathologists using auditory perception in seven early-treated patients over a period of 6 years. Statistical analysis of the first and last evaluations of the patients was performed with the Wilcoxon signed-rank test. A total of 29 speech samples were analyzed. All the patients suffered from hypernasality, articulation disorder, and impairment in speech intelligibility at the age of 3 years. The conditions were stable, and 2 patients developed normal or near normal speech during follow-up. Speech therapy and a high dose of rhGAA appeared to improve articulation in 6 of the 7 patients (86%, p = 0.028) by decreasing the omission of consonants, which consequently increased speech intelligibility (p = 0.041). Severity of hypernasality greatly reduced only in 2 patients (29%, p = 0.131). Speech disorders were common even in early and successfully treated patients with IOPD; however, aggressive speech therapy and high-dose rhGAA could improve their speech disorders. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. 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

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

Brainstem Auditory Evoked Potential Study in Children with Autistic Disorder.

ERIC Educational Resources Information Center

Wong, Virginia; Wong, Sik Nin

1991-01-01

Brainstem auditory evoked potentials were compared in 109 children with infantile autism, 38 with autistic condition, 19 with mental retardation, and 20 normal children. Children with infantile autism or autistic condition had significantly longer brainstem transmission time than normal children suggesting neurological damage as the basis of…

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.

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

[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.

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

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.

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

Ultrasound follow-up of infantile hypertrophic pyloric stenosis (IHPS) during conservative therapy: ultrasound findings as criteria for diagnosis and cure.

PubMed

Miura, Sachiko; Haku, Eijitsu; Hirai, Toshiko; Marugami, Nagaaki; Itoh, Takahiro; Tanaka, Takehiro; Kichikawa, Kimihiko; Ohishi, Hajime

2008-06-01

During conservative therapy of infantile hypertrophic pyloric stenosis (IHPS) with atropine sulfate, there are many patients who do not achieve normal values of pyloric wall thickness and canal length even though they are clinically cured (vomiting has ceased); an objective criterion for cure has not yet been established. The aim of this study was to examine whether the appearance of pyloric wall stratification can be used as a criterion for cure. Twenty infants with IHPS who were treated conservatively were enrolled. Two of them ultimately required surgery. Ultrasound examinations were done serially and the pyloric wall thickness and canal length were measured. The echogenicity of the pyloric wall and the presence of wall stratification were noted. On admission, all infants satisfied the ultrasound criteria for IHPS and had a heterogeneous pyloric wall without stratification. With conservative therapy, symptoms disappeared, the pyloric wall thickness and the canal length gradually decreased, the echogenicity gradually became homogeneous and hypoechoic, and wall stratification appeared (in most cases before the pyloric wall thickness and the canal length had normalized). The absence of wall stratification suggests that cellular interstitial changes, such as edema or inflammation, are present in the pyloric wall in the acute stage. Pyloric wall stratification was absent during the acute stage, but it appeared after initiation of treatment but before the pyloric wall thickness and the canal length had normalized. The presence of pyloric wall stratification can be used as a criterion for cure; the absence of wall stratification can be added to ultrasound diagnostic criteria for IHPS.

[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 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.

[Association between time of permanence at early education program (Estancias Infantiles) and developmental level for children in situation of poverty].

PubMed

Rizzoli-Córdoba, Antonio; Vargas-Carrillo, Laura Ibernia; Vásquez-Ríos, Jorge Rodrigo; Reyes-Morales, Hortensia; Villasís-Keever, Miguel Ángel; O'Shea-Cuevas, Gabriel; Aceves-Villagrán, Daniel; Muñoz-Hernández, Onofre; García-Aranda, José Alberto

Early education program (EEP) was created to support parents with 1 to 3 year olds living in poverty situation in Mexico, and includes education and child daycare for 8h five days per week. The objective of this study was to evaluate the association between length of stay in EEP and the level of development in children. Cross sectional, population-based study conducted in two Mexican states. All children aged between 12 to 48 months enrolled in EEP from November 2014 to January 2015 were included. Child Development Evaluation (CDE) test was used to screen early development in every child. Normal early development prevalence odds ratio (OR) was calculated adjusted by gender, impairment and state, using as a reference those children with less than 30 days in the program. The study included 3,387 children from 177 EEP nurseries, from which 53% were male; age by group was divided in 12-24 months (22.3%), 25-36 months (37.6%) and 37-42 months (40.1%). Normal development adjusted OR by age was 1.9 (CI95%: 1.30-2.78) for 6-11 months, 2.36 (CI95%: 1.60-3.50) for 12-17 months, 2.78 (CI95%: 1.65-4.65) for 18-23 months and 3.46 (CI95%: 2.13-5.60) for >24 months. By area of development, a greater probability of having a normal result for language and social areas was observed after 6 months in the program, and for motor (both gross and fine) and knowledge areas after 12 months. The length of the stay in the EEP after 6 months significantly and progressively increases the probability of normal development regardless of gender and age. Copyright © 2017 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

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

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.

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...

Establishment and characterization of an Epstein-Barr virus-transformed B cell line, KM/C8, from a patient with infantile sialic acid storage disease.

PubMed

Nagatsuka, Y; Nakano, C; Nemoto, N; Jike, T; Ono, Y; Hirabayashi, Y

1998-07-23

Nakano et al. have recently reported a Japanese case of infantile sialic acid storage disease [C. Nakano, Y. Hirabayashi, K. Ohno, T. Yano, T. Mito, M. Sakurai, Brain Dev., 18 (1996) 153-156]. For further etiological analysis of this disease, we prepared the Epstein-Barr virus (EBV)-transformed cell line (LCL) from the peripheral lymphocytes of this patient and performed initial characterization of the cells. Electron microscopy of the cells showed that the cells contained many vacuoles and swelled lysosomes. Cytochemical staining with sialic acid-specific lectin, Limax flavus agglutinin (LFA), showed strong staining on membranes and subcellular organelles on the patient-derived cells, whereas LCL from a normal person was only weakly stained. The cells from the patient contained 5.5-7.3 nmol/107 cells of free N-acetyl neuraminic acid, whereas three strains of LCLs derived from normal persons contained 1 nmol/107 cells. The culture supernatant of LCL from the patient contained 144 nmol/ml of free N-acetyl neuraminic acid, whereas the LCL culture supernatant from normal persons contained 57-73 nmol/ml of free sialic acid, which was the same or only at a slightly higher level than the fresh medium. In addition, cellular acidic sialidase measured as 4-methylumbelliferyl sialidase was elevated (107 nmol 4-methylumbelliferon released/mg cellular protein/60 min). The EBV-LCL from an ISSD patient is considered to remain as the abnormality of the cell donor. Copyright 1998 Elsevier Science B.V. All rights reserved.

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.

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

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

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.

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

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.

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.

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.

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

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

Boustany, R.M.; Qian, W.H.; Suzuki, K.

The authors describe four new mutations in the [beta]-galactosidase gene. These are the first mutations causing infantile and juvenile GM[sub 1]-gangliosidosis to be described in American patients. Cell lines from two patients with juvenile and from six patients with infantile GM[sub 1]-gangliosidosis were analyzed. Northern blot analysis showed the acid [beta]-galactosidase message to be of normal size and quantity in two juvenile and four infantile cases and of normal size but reduced quantity in two infantile cases. The mutations are distinct from the Japanese mutations. All are point mutations leading to amino acid substitutions: Lys[sup 577] [yields] Arg, Arg[sup 590]more » [yields] His, and Glu[sup 632] [yields] Gly. The fourth mutation, Arg[sup 208] [yields] Cys, accounts for 10 of 16 possible alleles. Two infantile cases from Puerto Rico of Spanish ancestry are homozygous for this mutation, suggesting that this allele may have come to South America and North America via Puerto Rico. That these mutations cause clinical disease was confirmed by marked reduction in catalytic activity of the mutant proteins in the Cos-1 cell expression system. 12 refs., 5 figs., 2 tabs.« less

[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.

Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome).

PubMed

Fusco, L; Pachatz, C; Di Capua, M; Vigevano, F

2001-11-01

Early-infantile epileptic encephalopathy (EIEE) with suppression-bursts is a severe neonatal epileptic encephalopathy. The etiology is multiple, with cerebral malformations as the more frequent. We review the clinical and video/EEG aspects of eight infants with EIEE. These infants, aged between 4 and 70 days at the time of video/EEG recordings, were studied in relation to their clinical and video/EEG characteristics, evolution, persistence of suppression-burst pattern and etiology. Seven of the eight infants showed an ictal clinical sign correlated to the burst of the suppression-burst pattern, four of whom died within 11 months of age. The other three are alive. One, now aged 4 years, underwent surgery for hemimegalencephaly and is seizure-free, with good neurological outcome. One, now aged 9 months, was pyridoxine-dependent and she is seizure-free, and with normal neurological evolution under pyridoxine therapy. One, now aged 3 years and 9 months, is seizure-free, but with severe neurological and cognitive impairment. The only child who did not show a clinical ictal correlation of burst is also alive, now aged 3 years and 9 months, with drug-resistant epilepsy, and severe neurological and cognitive deficits. With regard to the etiology, three showed structural abnormalities, two more showed some signs of prenatal origin of neurological disease, and three had metabolic etiology. Our study confirms that EIEE is a severe age-dependent early epileptic encephalopathy. The etiology is mostly malformative. The prognosis is poor regarding motor and cognitive development, seizures, as well as life expectancies. The presence of an ictal burst of the suppression-burst pattern usually correlates with a negative outcome.

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.

Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis.

PubMed

Ezaki, J; Takeda-Ezaki, M; Oda, K; Kominami, E

2000-02-24

Endopeptidase activities of the CLN2 gene product (Cln2p)/tripeptidyl peptidase I (TPP-I), purified from rat spleen, were studied using the synthetic fluorogenic substrates. We designed and constructed decapeptides, based on the known sequence cleavage specificities of bacterial pepstatin-insensitive carboxyl proteases (BPICP). MOCAc-Gly-Lys-Pro-Ile-Pro-Phe-Phe-Arg-Leu-Lys(Dnp)r-NH(2) is readily hydrolyzed by Cln2p/TPP-I (K(cat)/K(m) = 7.8 s(-1) mM(-1)). The enzyme had a maximal activity at pH 3.0 for an endopeptidase substrate, but at pH 4.5 with respect to tripeptidyl peptidase activity. Both endopeptidase and tripeptidyl peptidase activities were strongly inhibited by Ala-Ala-Phe-CH(2)Cl, but not inhibited by tyrostatin, an inhibitor of bacterial pepstatin-insensitive carboxyl proteases, pepstatin, or inhibitors of serine proteases. Fibroblasts from classical late infantile neuronal ceroid lipofuscinosis patients have less than 5% of the normal tripeptidyl peptidase activity and pepstatin-insensitive endopeptidase activity. Cln2p/TPP-I is a unique enzyme with both tripeptidyl peptidase and endopeptidase activities for certain substrate specificity. Copyright 2000 Academic Press.

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.

[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.

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…

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

[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.

Clinical and ocular motor analysis of the infantile nystagmus syndrome in the first 6 months of life.

PubMed

Hertle, R W; Maldanado, V K; Maybodi, M; Yang, D

2002-06-01

The infantile nystagmus syndrome (INS) usually begins in infancy and may or may not be associated with visual sensory system abnormalities. Little is known about its specific waveforms in the first 6 months of life or their relation to the developing visual system. This study identifies the clinical and ocular motility characteristics of the INS and establishes the range of waveforms present in the first 6 months of life. 27 infants with involuntary ocular oscillations typical of INS are included in this analysis. They were evaluated both clinically and with motility recordings. Eye movement analysis was performed off line from computer analysis of digitised data. Variables analysed included age, sex, vision, ocular abnormalities, head position, and null zone, neutral zone characteristics, symmetry, conjugacy, waveforms, frequencies, and foveation times. Ages ranged from 3 to 6.5 months (average 4.9 months). 15 patients (56%) had abnormal vision for age, nine (33%) had strabismus, five (19%) had an anomalous head posture, 13 (48%) had oculographic null and neutral positions, nine (33%) had binocular asymmetry, and only two showed consistent dysconjugacy. Average binocular frequency was 3.3 Hz, monocular frequency 6.6 Hz. Average foveation periods were longer and more "jerk" wave forms were observed in those patients with normal vision. Common clinical characteristics and eye movement waveforms of INS begin in the first few months of infancy and waveform analysis at this time may help with both diagnosis and visual status.

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.

Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase.

PubMed

Ezaki, J; Takeda-Ezaki, M; Kominami, E

2000-09-01

The specific accumulation of a hydrophobic protein, subunit c of ATP synthase, in lysosomes from the cells of patients with the late infantile form of NCL (LINCL) is caused by a defect in the CLN2 gene product, tripeptidyl peptidase I (TPP-I). The data here show that TPP-I is involved in the initial degradation of subunit c in lysosomes and suggest that its absence leads directly to the lysosomal accumulation of subunit c. The inclusion of a specific inhibitor of TPP-I, Ala-Ala-Phe-chloromethylketone (AAF-CMK), in the culture medium of normal fibroblasts induced the lysosomal accumulation of subunit c. In an in vitro incubation experiment the addition of AAF-CMK to mitochondrial-lysosomal fractions from normal cells inhibited the proteolysis of subunit c, but not the b-subunit of ATP synthase. The use of two antibodies that recognize the aminoterminal and the middle portion of subunit c revealed that the subunit underwent aminoterminal proteolysis, when TPP-I, purified from rat spleen, was added to the mitochondrial fractions. The addition of both purified TPP-I and the soluble lysosomal fractions, which contain various proteinases, to the mitochondrial fractions resulted in rapid degradation of the entire molecule of subunit c, whereas the degradation of subunit c was markedly delayed through the specific inhibition of TPP-I in lysosomal extracts by AAF-CMK. The stable subunit c in the mitochondrial-lysosomal fractions from cells of a patient with LINCL was degraded on incubation with purified TPP-I. The presence of TPP-I led to the sequential cleavage of tripeptides from the N-terminus of the peptide corresponding to the amino terminal sequence of subunit c.

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.

Teaching Normal Birth, Normally

PubMed Central

Hotelling, Barbara A

2009-01-01

Teaching normal-birth Lamaze classes normally involves considering the qualities that make birth normal and structuring classes to embrace those qualities. In this column, teaching strategies are suggested for classes that unfold naturally, free from unnecessary interventions. PMID:19436595

[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.

GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder.

PubMed

Graham, John M

2012-05-01

Glucose transporter-1 (GLUT1) deficiency syndrome is caused by heterozygous mutations in the SLC2A1 gene, resulting in impaired glucose transport into the brain. It is characterized by a low glucose concentration in the cerebrospinal fluid (hypoglycorrhachia) in the absence of hypoglycemia, in combination with low to normal lactate in the cerebrospinal fluid (CSF). It often results in treatment-resistant infantile epilepsy with progressive developmental disabilities and a complex movement disorder. Recognizing GLUT1 deficiency syndrome is important, since initiation of a ketogenic diet can reduce the frequency of seizures and the severity of the movement disorder. There can be a considerable delay in diagnosing GLUT1 deficiency syndrome, and this point is illustrated by the natural history of this disorder in a 21-year-old woman with severe, progressive neurological disabilities. Her encephalopathy consisted of treatment-resistant seizures, a complex movement disorder, progressive intellectual disability, and deceleration of her head growth after late infancy. Focused evaluation at age 21 revealed GLUT1 deficiency caused by a novel heterozygous missence mutation in exon 7 (c.938C > A; p.Ser313Try) in SLC2A1 as the cause for her disabilities. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

[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.

Association Between Selenium and Malondialdehyde as an Efficient Biomarker of Oxidative Stress in Infantile Cardiac Surgery.

PubMed

de Oliveira Ulbrecht, Marlice Oliveira; Gonçalves, Daniel Araujo; Zanoni, Lourdes Zélia Garcia; do Nascimento, Valter Aragão

2018-05-12

The present work describes a method to quantify the level of oxidative stress in infantile cardiac surgery. Fifteen patients, 6 girls and 9 boys, aged between 3 months and 16 years were divided into three groups. The first group sought to quantify the oxidative stress from differing concentrations of selenium. The second group used malondialdehyde as an indicator of oxidative stress. Finally, the third group quantified oxidative stress by normalizing the selenium concentration via malondialdehyde. Blood aliquots of 1.50 ml, drawn from the radial artery, were collected and centrifuged for quantification of Se and MDA in plasma. The statistical method ANOVA was used with a 95% confidence interval to indicate significant statistical differences between the post- and pre-operative stage for each group. The concentrations of malondialdehyde were measured by using UV-Vis following the thiobarbituric acid reaction method. For quantification of selenium, the samples were submitted to assisted microwave digestion and measured by ICP OES. In the first two groups, it was not possible to affirm that selenium and malondialdehyde could be biomarkers of oxidative stress, so a statistic test (ANOVA) was performed. However, the selenium/malondialdehyde ratios in the pre-operative and post-operative stage were 2.10 ± 0.70 and 3.20 ± 0.40, respectively. The ANOVA test confirmed a statistically significant difference between the pre- and post-operative stages with p value = 0.004. Here, the ratio of selenium concentration by malondialdehyde was confirmed to be an effective parameter for demonstration and quantification of oxidative stress activity at the post-operative stage.

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

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.

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.

Tenotomy procedure alleviates the "slow to see" phenomenon in infantile nystagmus syndrome: model prediction and patient data.

PubMed

Wang, Z I; Dell'Osso, L F

2008-06-01

Our purpose was to perform a systematic study of the post-four-muscle-tenotomy procedure changes in target acquisition time by comparing predictions from the behavioral ocular motor system (OMS) model and data from infantile nystagmus syndrome (INS) patients. We studied five INS patients who underwent only tenotomy at the enthesis and reattachment at the original insertion of each (previously unoperated) horizontal rectus muscle for their INS treatment. We measured their pre- and post-tenotomy target acquisition changes using data from infrared reflection and high-speed digital video. Three key aspects were calculated and analyzed: the saccadic latency (Ls), the time to target acquisition after the target jump (Lt) and the normalized stimulus time within the cycle. Analyses were performed in MATLAB environment (The MathWorks, Natick, MA) using OMLAB software (OMtools, available from http://www.omlab.org). Model simulations were performed in MATLAB Simulink environment. The model simulation suggested an Lt reduction due to an overall foveation-quality improvement. Consistent with that prediction, improvement in Lt, ranging from approximately 200 ms to approximately 500 ms (average approximately 280 ms), was documented in all five patients post-tenotomy. The Lt improvement was not a result of a reduced Ls. INS patients acquired step-target stimuli faster post-tenotomy. This target acquisition improvement may be due to the elevated foveation quality resulting in less inherent variation in the input to the OMS. A refined behavioral OMS model, with "fast" and "slow" motor neuron pathways and a more physiological plant, successfully predicted this improved visual behavior and again demonstrated its utility in guiding ocular motor research.

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.

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

Pharmacochaperoning in a Drosophila model system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism

PubMed Central

Asjad, H. M. Mazhar; Kasture, Ameya; El-Kasaby, Ali; Sackel, Michael; Hummel, Thomas; Freissmuth, Michael; Sucic, Sonja

2017-01-01

Point mutations in the gene encoding the human dopamine transporter (hDAT, SLC6A3) cause a syndrome of infantile/juvenile dystonia and parkinsonism. To unravel the molecular mechanism underlying these disorders and investigate possible pharmacological therapies, here we examined 13 disease-causing DAT mutants that were retained in the endoplasmic reticulum when heterologously expressed in HEK293 cells. In three of these mutants, i.e. hDAT-V158F, hDAT-G327R, and hDAT-L368Q, the folding deficit was remedied with the pharmacochaperone noribogaine or the heat shock protein 70 (HSP70) inhibitor pifithrin-μ such that endoplasmic reticulum export of and radioligand binding and substrate uptake by these DAT mutants were restored. In Drosophila melanogaster, DAT deficiency results in reduced sleep. We therefore exploited the power of targeted transgene expression of mutant hDAT in Drosophila to explore whether these hDAT mutants could also be pharmacologically rescued in an intact organism. Noribogaine or pifithrin-μ treatment supported hDAT delivery to the presynaptic terminals of dopaminergic neurons and restored sleep to normal length in DAT-deficient (fumin) Drosophila lines expressing hDAT-V158F or hDAT-G327R. In contrast, expression of hDAT-L368Q in the Drosophila DAT mutant background caused developmental lethality, indicating a toxic action not remedied by pharmacochaperoning. Our observations identified those mutations most likely amenable to pharmacological rescue in the affected children. In addition, our findings also highlight the challenges of translating insights from pharmacochaperoning in cell culture to the clinical situation. Because of the evolutionary conservation in dopaminergic neurotransmission between Drosophila and people, pharmacochaperoning of DAT in D. melanogaster may allow us to bridge that gap. PMID:28972153

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.

[Adiponectin levels in breast milk of overweight/obese and normal weight mothers in the metropolitan area of Monterrey, México].

PubMed

Galindo Gómez, Abelardo; Flores Scheufler, Pamela; Quevedo Escobar, Yamile; González Magaña, Regina; Rodríguez De Ita, Julieta

Given the current epidemic of childhood obesity, it has become increasingly important to understand the risks and protective factors associated with this disease. Breastfeeding has been identified as a protective factor; however, the mechanism responsible has not been elucidated. One of the current theories analyzes the role of hormones in breast milk, with special emphasis on adiponectin. This study aims to compare adiponectin levels in breast milk of mothers with normal weight with those in breast milk of overweight/obese mothers as well as to correlate these levels with the infant's weight gain. Forty samples of breast milk were analyzed for adiponectin levels using ELISA, 20 from mothers with normal weight and 20 from overweight/obese mothers. Adiponectin levels were lower in breast milk obtained from overweight/obese mothers than in breast milk from mothers with normal weight (p <0.05). When comparing infant weight gain, those fed with breast milk containing higher concentrations of adiponectin had a lower weight gain than those fed with breast milk containing low levels of the hormone (p <0.05). There is a strong negative correlation between mothers' BMI and adiponectin levels in breast milk. Mothers with a higher BMI had lower adiponectin levels in their breast milk. There is also a negative relationship between adiponectin levels in breast milk and weight gain of breastfed infants. Infants breast fed with adiponectin-rich breast milk had a lower weight gain. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

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.

Angiogenesis characteristics of infantile hemangioma and feasibility observation of transplantation model of human hemangioma on mice.

PubMed

Fu, Y; Yang, Z-G; Zhao, L-Y

2017-03-01

expression in the tumors, however, was high during the proliferative phase (p<0.05), while the VEGF of the involuting phase showed no significant differences from that of the normal samples (p>0.05). We showed the reliability of the mouse model in reflecting the pathologic evolution of the proliferation and involuting phases of infantile hemangiomas. Angiogenic mediators Ang1, Ang2 and Tie2 may be abnormally expressed and play important roles in the development of this angiogenic disease.

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.

Combination of suberoylanilide hydroxamic acid with heavy ion therapy shows promising effects in infantile sarcoma cell lines

PubMed Central

2011-01-01

Introduction The pan-HDAC inhibitor (HDACI) suberoylanilide hydroxamic acid (SAHA) has previously shown to be a radio-sensitizer to conventional photon radiotherapy (XRT) in pediatric sarcoma cell lines. Here, we investigate its effect on the response of two sarcoma cell lines and a normal tissue cell line to heavy ion irradiation (HIT). Materials and methods Clonogenic assays after different doses of heavy ions were performed. DNA damage and repair were evaluated by measuring γH2AX via flow-cytometry. Apoptosis and cell cycle analysis were also measured via flow cytometry. Protein expression of repair proteins, p53 and p21 were measured using immunoblot analysis. Changes of nuclear architecture after treatment with SAHA and HIT were observed in one of the sarcoma cell lines via light microscopy after staining towards chromatin and γH2AX. Results Corresponding with previously reported photon data, SAHA lead to an increase of sensitivity to heavy ions along with an increase of DSB and apoptosis in the two sarcoma cell lines. In contrast, in the osteoblast cell line (hFOB 1.19), the combination of SAHA and HIT showed a significant radio-protective effect. Laser scanning microscopy revealed no significant morphologic changes after HIT compared to the combined treatment with SAHA. Immunoblot analysis revealed no significant up or down regulation of p53. However, p21 was significantly increased by SAHA and combination treatment as compared to HIT only in the two sarcoma cell lines - again in contrast to the osteoblast cell line. Changes in the repair kinetics of DSB p53-independent apoptosis with p21 involvement may be part of the underlying mechanisms for radio-sensitization by SAHA. Conclusion Our in vitro data suggest an increase of the therapeutic ratio by the combination of SAHA with HIT in infantile sarcoma cell lines. PMID:21933400

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

Pellett, O.L.; Smith, M.L.; Greene, A.A.

Cystinosis is an autosomal recessive disease in which three clinical forms are recognized: infantile nephropathic, with renal tubular damage by 1 year of age and progressive glomerular insufficiency; intermediate, with tubular and glomerular insufficiency beginning at a later age; benign, with no kidney damage. Skin fibroblasts cultured from patients with all types of cystinosis show increased intralysosomal free (nonprotein) cystine; however, fibroblasts from heterozygotes have normal free-cystine values. To determine whether genetic complementation occurs between the different forms, somatic cell hybrids were constructed between cells from a patient with infantile nephropathic cystinosis and cells from patients with other types ofmore » cystinosis. If complementation occurred, the hybrids would be expected to have normal cystine levels. To construct hybrid cells, a universal parent cell type (TG1-neo), which was hypoxanthine/aminopterin/thymidine (HAT) sensitive and G418 resistant was constructed from an infantile nephropathic cystinosis fibroblast strain. Polyethylene glycol fusion of TG1-neo with other cells that are not HAT sensitive or G418 resistant allowed for selection of hybrid cells in a medium containing HAT and the aminoglycoside G418. As indicated by elevated cystine levels, complementation did not occur between TG1-neo and two different benign cystinosis strains, an intermediate cystinosis strain, or another nephropathic cystinosis cell strain. When a normal fibroblast strain was fused with TG1-neo, all 15 hybrid clones studied contained normal amounts of intracellular free cystine.« less

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

[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.

[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.

Autosomal dominant SCN8A mutation with an unusually mild phenotype.

PubMed

Anand, G; Collett-White, F; Orsini, A; Thomas, S; Jayapal, S; Trump, N; Zaiwalla, Z; Jayawant, S

2016-09-01

Mutations in SCN8A, coding for the voltage-gated sodium channel Nav 1.6, have been described in relation to infantile onset epilepsy with developmental delay and cognitive impairment, in particular early onset epileptic encephalopathy (EIEE) type 13. Here we report an infant and his father with early onset focal epileptic seizures but without cognitive or neurological impairment in whom next generation sequence analysis identified a heterozygous mutation (c.5630A > G, p. (Asn1877Ser)) in the SCN8A gene. This mutation, confirmed by Sanger sequence analysis, affects a highly conserved amino acid and in silico tools predicts that it may be pathogenic. The reported infant has a normal developmental profile at 16-month follow-up. His father also had normal development and has no cognitive impairment at 42 years. This is the second known SCN8A mutation associated with a phenotype of benign familial infantile epilepsy. Good seizure control was achieved in our patients with sodium channel blockers. Based on our proband and a recently described group of families with benign familial infantile epilepsy and SCN8A variant we suggest expanding testing to patients with infantile epilepsy and no cognitive impairment. In addition, the same SCN8A variant (c.5630A > G, p. (Asn1877Ser)) is also found in patients with epilepsy and developmental delay highlighting the phenotypic variability and the possible role of other protective genetic factors. Copyright © 2016. Published by Elsevier Ltd.

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

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.

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

Normalized modes at selected points without normalization

NASA Astrophysics Data System (ADS)

Kausel, Eduardo

2018-04-01

As every textbook on linear algebra demonstrates, the eigenvectors for the general eigenvalue problem | K - λM | = 0 involving two real, symmetric, positive definite matrices K , M satisfy some well-defined orthogonality conditions. Equally well-known is the fact that those eigenvectors can be normalized so that their modal mass μ =ϕT Mϕ is unity: it suffices to divide each unscaled mode by the square root of the modal mass. Thus, the normalization is the result of an explicit calculation applied to the modes after they were obtained by some means. However, we show herein that the normalized modes are not merely convenient forms of scaling, but that they are actually intrinsic properties of the pair of matrices K , M, that is, the matrices already "know" about normalization even before the modes have been obtained. This means that we can obtain individual components of the normalized modes directly from the eigenvalue problem, and without needing to obtain either all of the modes or for that matter, any one complete mode. These results are achieved by means of the residue theorem of operational calculus, a finding that is rather remarkable inasmuch as the residues themselves do not make use of any orthogonality conditions or normalization in the first place. It appears that this obscure property connecting the general eigenvalue problem of modal analysis with the residue theorem of operational calculus may have been overlooked up until now, but which has in turn interesting theoretical implications.Á

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.

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.

Clarifying Normalization

ERIC Educational Resources Information Center

Carpenter, Donald A.

2008-01-01

Confusion exists among database textbooks as to the goal of normalization as well as to which normal form a designer should aspire. This article discusses such discrepancies with the intention of simplifying normalization for both teacher and student. This author's industry and classroom experiences indicate such simplification yields quicker…

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.

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

[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.

Being "slow to see" is a dynamic visual function consequence of infantile nystagmus syndrome: model predictions and patient data identify stimulus timing as its cause.

PubMed

Wang, Z I; Dell'Osso, L F

2007-05-01

The objective of this study was to investigate the dynamic properties of infantile nystagmus syndrome (INS) that affect visual function; i.e., which factors influence latency of the initial reflexive saccade (Ls) and latency to target acquisition (Lt). We used our behavioral ocular motor system (OMS) model to simulate saccadic responses (in the presence of INS) to target jumps at different times within a single INS cycle and at random times during multiple cycles. We then studied the responses of 4 INS subjects with different waveforms to test the model's predictions. Infrared reflection was used for 1 INS subject, high-speed digital video for 3. We recorded and analyzed human responses to large and small target-step stimuli. We evaluated the following factors: stimulus time within the cycle (Tc), normalized Tc (Tc%), initial orbital position (Po), saccade amplitude, initial retinal error (e(i)), and final retinal error (e(f)). The ocular motor simulations were performed in MATLAB Simulink environment and the analysis was performed in MATLAB environment using OMLAB software. Both the OMS model and OMtools software are available from http://http:www.omlab.org. Our data analysis showed that for each subject, Ls was a fixed value that is typically higher than the normal saccadic latency. Although saccadic latency appears somewhat lengthened in INS, the amount is insufficient to cause the "slow-to-see" impression. For Lt, Tc% was the most influential factor for each waveform type. The main refixation strategies employed by INS subjects made use of slow and fast phases and catch-up saccades, or combinations of them. These strategies helped the subjects to foveate effectively after target movement, sometimes at the cost of increased target acquisition time. Foveating or braking saccades intrinsic to the nystagmus waveforms seemed to disrupt the OMS' ability to accurately calculate reflexive saccades' amplitude and refoveate. Our OMS model simulations demonstrated this

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.

Pre Normal Science and the Transition to Post-Normal Policy

NASA Astrophysics Data System (ADS)

Halpern, J. B.

2015-12-01

Post-Normal Science as formulated by Funtowicz and Ravetz describes cases where "facts are uncertain, values in dispute, stakes high, and decisions urgent". However Post-Normal Science is better described as Pre-Normal Science, the stage at which something has been observed, but no one quite knows where it came from, what it means (science) or what to do about it (policy). The initial flailing about to reach a useful understanding is later used by those who oppose action to obfuscate by insisting that still nothing is known, what is known is wrong, or at best that more research is needed. Consider AIDS/HIV, stratospheric ozone, tobacco, acid rain, climate change, etc. As these issues gained attention, we entered the Pre-Normal Science stage. What was the cause? How could they be dealt with? Every idea could be proposed and was. Normal science sorted through them. Many proposers of the discarded theories still clutched them strongly, but mostly they are dismissed within the scientific community. Post-Normal Policy ensues when normal science has reached a consensus and it is clear that action is needed but it is economically or philosophically impossible for some to accept that. The response is to deny the utility of science and scientific judgment, thus the attacks on scientists and scientific panels that provide policy makers with their best scientific advice. Recognizing the division between Pre-Normal Science and Post-Normal Policy and the uses of the former to block action by the later is useful for understanding the course of controversies that require normal science to influence policy.

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.

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.

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.

Advocating for Normal Birth With Normal Clothes

PubMed Central

Waller-Wise, Renece

2007-01-01

Childbirth educators need to be aware that the clothes they wear when teaching classes send a nonverbal message to class participants. Regardless of who wears the clothing or what is worn, clothes send a message; thus, both the advantages and disadvantages related to clothing choice should be considered. Ultimately, the message should reflect the values of supporting normal birth. For childbirth educators who are allowed to choose their own apparel to wear in their classes, street clothes may be the benchmark for which to strive. This article discusses the many nonverbal messages that clothes convey and provides support for the choice of street clothes as the dress for the professional childbirth educator; thus, “normal clothes to promote normal birth.” PMID:18408807

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

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

Childhood Psychosis and Computed Tomographic Brain Scan Findings.

ERIC Educational Resources Information Center

Gillberg, Christopher; Svendsen, Pal

1983-01-01

Computerized tomography (CT) of the brain was used to examine 27 infantile autistic children, 9 children with other kinds of childhood psychoses, 23 children with mental retardation, and 16 normal children. Gross abnormalities were seen in 26 percent of the autism cases. (Author/SEW)

Clinical profile of infants with hypsarrhythmia.

PubMed

Khreisat, Wael Hayel

2011-09-01

The present study was done in order to obtain a baseline profile of infantile spasms and associated neurological disorders. The study included 50 patients with infantile spasm in Queen Rania Hospital for children in Jordan. The following data were obtained: sex, age at onset of spasms, details of seizure, family history of epilepsy, significant pre-/peri/ post-natal insults, Electroencephalography and detailed neuro imaging evaluation , detailed neurological, neuro developmental ,assessment were done by. Broad categories of possible etiologies were used the results were recorded for further study. Age of onset of infantile spasms ranged from 1month to 1 year and 6 months , (mean 4.8 months). The mean time of presentation was 9.4 months . A male preponderance was noted (74 %). flexor spasms (52%) was the commonest . Other types of seizures also accompanied infantile spasm in 44% children . (84%) were born of normal delivery, History of birth asphyxia was obtained in 48%, 3 (6%) had positive family history Developmental delay was recognized prior to onset of spasms in 52%, microcephaly was the commonest associated problem, Imaging studies of the brain revealed abnormality in 18 patients. 78% patients were classified as symptomatic and 22 % as cryptogenic. the pattern of infantile spasm in our country do not differ from that of developed countries, further researches is required to prevent both chronic epilepsy and psychomotor retardation and .preventive measurement to prevent birth asphyxia is recommended.

Clinical Profile of Infants with Hypsarrhythmia

PubMed Central

Khreisat, Wael Hayel

2011-01-01

Objective: The present study was done in order to obtain a baseline profile of infantile spasms and associated neurological disorders. Patient and methods: The study included 50 patients with infantile spasm in Queen Rania Hospital for children in Jordan. The following data were obtained: sex, age at onset of spasms, details of seizure, family history of epilepsy, significant pre-/peri/ post-natal insults, Electroencephalography and detailed neuro imaging evaluation , detailed neurological, neuro developmental ,assessment were done by. Broad categories of possible etiologies were used the results were recorded for further study. Results: Age of onset of infantile spasms ranged from 1month to 1 year and 6 months , (mean 4.8 months). The mean time of presentation was 9.4 months . A male preponderance was noted (74 %). flexor spasms (52%) was the commonest . Other types of seizures also accompanied infantile spasm in 44% children . (84%) were born of normal delivery, History of birth asphyxia was obtained in 48%, 3 (6%) had positive family history Developmental delay was recognized prior to onset of spasms in 52%, microcephaly was the commonest associated problem, Imaging studies of the brain revealed abnormality in 18 patients. 78% patients were classified as symptomatic and 22 % as cryptogenic. Conclusion: the pattern of infantile spasm in our country do not differ from that of developed countries, further researches is required to prevent both chronic epilepsy and psychomotor retardation and .preventive measurement to prevent birth asphyxia is recommended. PMID:23407582

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.

Power of tests of normality for detecting contaminated normal samples

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

Thode, H.C. Jr.; Smith, L.A.; Finch, S.J.

1981-01-01

Seventeen tests of normality or goodness of fit were evaluated for power at detecting a contaminated normal sample. This study used 1000 replications each of samples of size 12, 17, 25, 33, 50, and 100 from six different contaminated normal distributions. The kurtosis test was the most powerful over all sample sizes and contaminations. The Hogg and weighted Kolmogorov-Smirnov tests were second. The Kolmogorov-Smirnov, chi-squared, Anderson-Darling, and Cramer-von-Mises tests had very low power at detecting contaminated normal random variables. Tables of the power of the tests and the power curves of certain tests are given.

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.

[Not Available].

PubMed

San Mauro Martín, Ismael; Cevallos, Vanesa; Pina Ordúñez, Diana; Garicano Vilar, Elena

2016-07-19

Introducción: existen alteraciones frecuentes en la alimentación de la población infantil femenina, y especialmente en atletas de deportes estéticos por la presión ejercida para mantener un cuerpo.Objetivos: evaluar los aspectos nutricionales, antropométricos y la percepción del peso de niñas que realizan gimnasia rítmica frente a un grupo control.Métodos: estudio descriptivo comparativo. Se compararon 25 niñas gimnastas con 25 niñas no gimnastas (control). Se realizó una valoración antropométrica, mediante protocolo ISAK, y nutricional, mediante un registro dietético de siete días; así como una valoración cuantitativa y cualitativa de la ingesta alimentaria, mediante el software DIAL. Se rellenó un cuestionario de hábitos y sobre la percepción de su peso corporal.Resultados: los datos antropométricos no presentaron diferencias significativas entre ambos grupos, excepto en los pliegues cutáneos y el porcentaje de grasa, el cual era estadísticamente inferior en gimnastas. La ingesta energética (1.413 ± 283 Kcal/día) de las gimnastas era inferior a la recomendada por la Food and Nutrition Board de acuerdo a su edad. La distribución de los macronutrientes cumplía con los valores normales establecidos (10-30% proteínas, 45-65% hidratos, 20-35% grasas). El 32% de las gimnastas y el 36,4% de las niñas control consideraron que les gustaría pesar menos.Conclusión: teniendo en cuenta la intensa actividad de las gimnastas, sus requerimientos energéticos deberían ajustarse a ello, ya que esto contribuirá a su desarrollo y crecimiento y a una mejor ejecución del ejercicio. En la muestra estudiada, el consumo de alimentos de las gimnastas se aleja de una alimentación equilibrada. No se observaron comportamientos diferentes en la percepción del peso entre ambos grupos.

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

Interactions between Polygonal Normal Faults and Larger Normal Faults, Offshore Nova Scotia, Canada

NASA Astrophysics Data System (ADS)

Pham, T. Q. H.; Withjack, M. O.; Hanafi, B. R.

2017-12-01

Polygonal faults, small normal faults with polygonal arrangements that form in fine-grained sedimentary rocks, can influence ground-water flow and hydrocarbon migration. Using well and 3D seismic-reflection data, we have examined the interactions between polygonal faults and larger normal faults on the passive margin of offshore Nova Scotia, Canada. The larger normal faults strike approximately E-W to NE-SW. Growth strata indicate that the larger normal faults were active in the Late Cretaceous (i.e., during the deposition of the Wyandot Formation) and during the Cenozoic. The polygonal faults were also active during the Cenozoic because they affect the top of the Wyandot Formation, a fine-grained carbonate sedimentary rock, and the overlying Cenozoic strata. Thus, the larger normal faults and the polygonal faults were both active during the Cenozoic. The polygonal faults far from the larger normal faults have a wide range of orientations. Near the larger normal faults, however, most polygonal faults have preferred orientations, either striking parallel or perpendicular to the larger normal faults. Some polygonal faults nucleated at the tip of a larger normal fault, propagated outward, and linked with a second larger normal fault. The strike of these polygonal faults changed as they propagated outward, ranging from parallel to the strike of the original larger normal fault to orthogonal to the strike of the second larger normal fault. These polygonal faults hard-linked the larger normal faults at and above the level of the Wyandot Formation but not below it. We argue that the larger normal faults created stress-enhancement and stress-reorientation zones for the polygonal faults. Numerous small, polygonal faults formed in the stress-enhancement zones near the tips of larger normal faults. Stress-reorientation zones surrounded the larger normal faults far from their tips. Fewer polygonal faults are present in these zones, and, more importantly, most polygonal faults

Cerebrospinal fluid biomarkers of infantile congenital hydrocephalus

PubMed Central

Limbrick, David D.; Baksh, Brandon; Morgan, Clinton D.; Habiyaremye, Gakwaya; McAllister, James P.; Inder, Terrie E.; Mercer, Deanna; Holtzman, David M.; Strahle, Jennifer; Wallendorf, Michael J.; Morales, Diego M.

2017-01-01

Introduction Hydrocephalus is a complex neurological disorder with a pervasive impact on the central nervous system. Previous work has demonstrated derangements in the biochemical profile of cerebrospinal fluid (CSF) in hydrocephalus, particularly in infants and children, in whom neurodevelopment is progressing in parallel with concomitant neurological injury. The objective of this study was to examine the CSF of children with congenital hydrocephalus (CHC) to gain insight into the pathophysiology of hydrocephalus and identify candidate biomarkers of CHC with potential diagnostic and therapeutic value. Methods CSF levels of amyloid precursor protein (APP) and derivative isoforms (sAPPα, sAPPβ, Aβ42), tau, phosphorylated tau (pTau), L1CAM, NCAM-1, aquaporin 4 (AQP4), and total protein (TP) were measured by ELISA in 20 children with CHC. Two comparative groups were included: age-matched controls and children with other neurological diseases. Demographic parameters, ventricular frontal-occipital horn ratio, associated brain malformations, genetic alterations, and surgical treatments were recorded. Logistic regression analysis and receiver operating characteristic curves were used to examine the association of each CSF protein with CHC. Results CSF levels of APP, sAPPα, sAPPβ, Aβ42, tau, pTau, L1CAM, and NCAM-1 but not AQP4 or TP were increased in untreated CHC. CSF TP and normalized L1CAM levels were associated with FOR in CHC subjects, while normalized CSF tau levels were associated with FOR in control subjects. Predictive ability for CHC was strongest for sAPPα, especially in subjects ≤12 months of age (p<0.0001 and AUC = 0.99), followed by normalized sAPPβ (p = 0.0001, AUC = 0.95), tau, APP, and L1CAM. Among subjects ≤12 months, a normalized CSF sAPPα cut-point of 0.41 provided the best prediction of CHC (odds ratio = 528, sensitivity = 0.94, specificity = 0.97); these infants were 32 times more likely to have CHC. Conclusions CSF proteins such as s

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

Clinically mild infantile encephalopathy associated with excitotoxicity.

PubMed

Hirai, Nozomi; Yoshimaru, Daisuke; Moriyama, Yoko; Honda, Takafumi; Yasukawa, Kumi; Takanashi, Jun-Ichi

2017-02-15

Acute infectious encephalopathy is very frequently observed in children in East Asia including Japan. Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common subtype in Japan; however, more than 40% of the patients remain unclassified into specific syndromes. To investigate the underlying pathomechanism in those with unclassified acute encephalopathy, we evaluated brain metabolism by MR spectroscopy. Among 20 patients with acute encephalopathy admitted to our hospital during January 2015 to May 2016, 12 could not be classified into specific syndromes. MR spectroscopy was performed in 8 of these 12 patients with unclassified encephalopathy. MR spectroscopy showed an increase of glutamine with a normal N-acetyl aspartate level on days 3 to 8 in three of the 8 patients, which had normalized by follow-up studies. The three patients clinically recovered completely. This study suggests that excitotoxicity may be the underlying pathomechanism in some patients with unclassified mild encephalopathy. Copyright © 2016 Elsevier B.V. All rights reserved.

Infantile Anorexia and Co-parenting: A Pilot Study on Mother–Father–Child Triadic Interactions during Feeding and Play

PubMed Central

Lucarelli, Loredana; Ammaniti, Massimo; Porreca, Alessio; Simonelli, Alessandra

2017-01-01

Infantile Anorexia (IA), defined by the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood Revised (DC: 0-3R, Zero To Three, 2005), occurs when the child (a) refuses to eat adequate amounts of food for at least 1 month, and shows growth deficiency, (b) does not communicate hunger and lacks interest in food, and (c) the child’s food refusal does not follow a traumatic event and is not due to an underlying medical illness. IA usually emerges during the transition to self-feeding, when the child issues of autonomy are played out daily in the feeding situation. Studies evidence that the feeding interactions between children with IA and their mothers are characterized by low reciprocity, greater interactional conflict and negative affects (Chatoor et al., 2000; Ammaniti et al., 2010, 2012). Moreover, these studies pointed out that maternal depression and eating disorders are frequently associated with IA (Cooper et al., 2004; Ammaniti et al., 2010; Lucarelli et al., 2013). To date, research has focused almost exclusively on the mother–child dyad, while fathers’ involvement, co-parental and family interactions are poorly studied. The current study is a pilot research that investigated mother–father–child triadic interactions, during feeding and play, in families with children diagnosed with IA, in comparison to families with normally developing children. Until now, at the study participated N = 10 families (five with a child with IA diagnosis and five with lack of child’s IA diagnosis, matched for child’s age and gender). The parents–child triadic interactions were assessed in feeding and play contexts using the Lausanne Trilogue Play (Fivaz-Depeursinge and Corboz-Warnery, 1999), adapted to observe father-mother-infant primary triangle in the feeding context, compared to the play context (Lucarelli et al., 2012). Families of the IA-group showed difficulties in expressing and sharing pleasure and positive

Smooth quantile normalization.

PubMed

Hicks, Stephanie C; Okrah, Kwame; Paulson, Joseph N; Quackenbush, John; Irizarry, Rafael A; Bravo, Héctor Corrada

2018-04-01

Between-sample normalization is a critical step in genomic data analysis to remove systematic bias and unwanted technical variation in high-throughput data. Global normalization methods are based on the assumption that observed variability in global properties is due to technical reasons and are unrelated to the biology of interest. For example, some methods correct for differences in sequencing read counts by scaling features to have similar median values across samples, but these fail to reduce other forms of unwanted technical variation. Methods such as quantile normalization transform the statistical distributions across samples to be the same and assume global differences in the distribution are induced by only technical variation. However, it remains unclear how to proceed with normalization if these assumptions are violated, for example, if there are global differences in the statistical distributions between biological conditions or groups, and external information, such as negative or control features, is not available. Here, we introduce a generalization of quantile normalization, referred to as smooth quantile normalization (qsmooth), which is based on the assumption that the statistical distribution of each sample should be the same (or have the same distributional shape) within biological groups or conditions, but allowing that they may differ between groups. We illustrate the advantages of our method on several high-throughput datasets with global differences in distributions corresponding to different biological conditions. We also perform a Monte Carlo simulation study to illustrate the bias-variance tradeoff and root mean squared error of qsmooth compared to other global normalization methods. A software implementation is available from https://github.com/stephaniehicks/qsmooth.

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.

Cortical Thinning in Network-Associated Regions in Cognitively Normal and Below-Normal Range Schizophrenia

PubMed Central

Pinnock, Farena; Parlar, Melissa; Hawco, Colin; Hanford, Lindsay; Hall, Geoffrey B.

2017-01-01

This study assessed whether cortical thickness across the brain and regionally in terms of the default mode, salience, and central executive networks differentiates schizophrenia patients and healthy controls with normal range or below-normal range cognitive performance. Cognitive normality was defined using the MATRICS Consensus Cognitive Battery (MCCB) composite score (T = 50 ± 10) and structural magnetic resonance imaging was used to generate cortical thickness data. Whole brain analysis revealed that cognitively normal range controls (n = 39) had greater cortical thickness than both cognitively normal (n = 17) and below-normal range (n = 49) patients. Cognitively normal controls also demonstrated greater thickness than patients in regions associated with the default mode and salience, but not central executive networks. No differences on any thickness measure were found between cognitively normal range and below-normal range controls (n = 24) or between cognitively normal and below-normal range patients. In addition, structural covariance between network regions was high and similar across subgroups. Positive and negative symptom severity did not correlate with thickness values. Cortical thinning across the brain and regionally in relation to the default and salience networks may index shared aspects of the psychotic psychopathology that defines schizophrenia with no relation to cognitive impairment. PMID:28348889

Serial elongation-derotation-flexion casting for children with early-onset scoliosis.

PubMed

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

2015-12-18

Various early-onset spinal deformities, particularly infantile and juvenile scoliosis (JS), still pose challenges to pediatric orthopedic surgeons. The ideal treatment of these deformities has yet to emerge, as both clinicians and surgeons still face multiple challenges including preservation of thoracic motion, spine and cage, and protection of cardiac and lung growth and function. Elongation-derotation-flexion (EDF) casting is a technique that uses a custom-made thoracolumbar cast based on a three-dimensional correction concept. EDF can control progression of the deformity and - in some cases-coax the initially-curved spine to grow straighter by acting simultaneously in the frontal, sagittal and coronal planes. Here we provide a comprehensive review of how infantile and JS can affect normal spine and thorax and how serial EDF casting can be used to manage these spinal deformities. A fresh review of the literature helps fully understand the principles of the serial EDF casting technique and the effectiveness of conservative treatment in patients with early-onset spinal deformities, particularly infantile and juvenile scolisois.

Serial elongation-derotation-flexion casting for children with early-onset scoliosis

PubMed Central

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

2015-01-01

Various early-onset spinal deformities, particularly infantile and juvenile scoliosis (JS), still pose challenges to pediatric orthopedic surgeons. The ideal treatment of these deformities has yet to emerge, as both clinicians and surgeons still face multiple challenges including preservation of thoracic motion, spine and cage, and protection of cardiac and lung growth and function. Elongation-derotation-flexion (EDF) casting is a technique that uses a custom-made thoracolumbar cast based on a three-dimensional correction concept. EDF can control progression of the deformity and - in some cases-coax the initially-curved spine to grow straighter by acting simultaneously in the frontal, sagittal and coronal planes. Here we provide a comprehensive review of how infantile and JS can affect normal spine and thorax and how serial EDF casting can be used to manage these spinal deformities. A fresh review of the literature helps fully understand the principles of the serial EDF casting technique and the effectiveness of conservative treatment in patients with early-onset spinal deformities, particularly infantile and juvenile scolisois. PMID:26716089

A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy.

PubMed

Wada, Keisuke; Kobayashi, Hironori; Moriyama, Aisa; Haneda, Yasuhiro; Mushimoto, Yuichi; Hasegawa, Yuki; Onigata, Kazumichi; Kumori, Koji; Ishikawa, Noriyoshi; Maruyama, Riruke; Sogo, Tsuyoshi; Murphy, Lynne; Taketani, Takeshi

2017-01-01

Congenital combined pituitary hormone deficiency (CPHD) may present with cholestasis in the neonate or during early infancy. However, its precise mechanism is unknown. A 3-mo-old boy presented with cryptorchidism and hypoplastic scrotum after birth. Neonatal jaundice was noted but temporarily improved with phototherapy. Jaundice recurred at 2 mo of age. Elevated direct bilirubin (D-Bil) and liver dysfunction were found but cholangiography showed no signs of biliary atresia (BA). Liver biopsy findings showed giant cell formation of hepatocytes with hypoplastic bile ducts. Subsequent magnetic resonance imaging (MRI) of the head revealed a hypoplastic pituitary gland with an ectopic posterior lobe, and the patient was diagnosed with congenital CPHD based on decreased secretion of cortisol and GH by the pituitary anterior lobe load test. D-Bil levels promptly improved after hydrocortisone (HDC) replacement. We subsequently began replacement with levothyroxine (L-T 4 ) and GH, and liver histology showed normal interlobular bile ducts at 8 mo old. This is the first case report of proven histological improvement after hormone replacement therapy. This suggested that pituitary-mediated hormones, especially cortisol, might be involved in the development of the bile ducts.

A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy

PubMed Central

Wada, Keisuke; Kobayashi, Hironori; Moriyama, Aisa; Haneda, Yasuhiro; Mushimoto, Yuichi; Hasegawa, Yuki; Onigata, Kazumichi; Kumori, Koji; Ishikawa, Noriyoshi; Maruyama, Riruke; Sogo, Tsuyoshi; Murphy, Lynne; Taketani, Takeshi

2017-01-01

Abstract. Congenital combined pituitary hormone deficiency (CPHD) may present with cholestasis in the neonate or during early infancy. However, its precise mechanism is unknown. A 3-mo-old boy presented with cryptorchidism and hypoplastic scrotum after birth. Neonatal jaundice was noted but temporarily improved with phototherapy. Jaundice recurred at 2 mo of age. Elevated direct bilirubin (D-Bil) and liver dysfunction were found but cholangiography showed no signs of biliary atresia (BA). Liver biopsy findings showed giant cell formation of hepatocytes with hypoplastic bile ducts. Subsequent magnetic resonance imaging (MRI) of the head revealed a hypoplastic pituitary gland with an ectopic posterior lobe, and the patient was diagnosed with congenital CPHD based on decreased secretion of cortisol and GH by the pituitary anterior lobe load test. D-Bil levels promptly improved after hydrocortisone (HDC) replacement. We subsequently began replacement with levothyroxine (L-T4) and GH, and liver histology showed normal interlobular bile ducts at 8 mo old. This is the first case report of proven histological improvement after hormone replacement therapy. This suggested that pituitary-mediated hormones, especially cortisol, might be involved in the development of the bile ducts. PMID:29026274

Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)2 D3 in Affected Patients.

PubMed

Kaufmann, Martin; Morse, Nicole; Molloy, Billy Joe; Cooper, Donald P; Schlingmann, Karl Peter; Molin, Arnaud; Kottler, Marie Laure; Gallagher, J Christopher; Armas, Laura; Jones, Glenville

2017-07-01

CYP24A1 mutations are now accepted as a cause of idiopathic infantile hypercalcemia (IIH). A rapid liquid-chromatography tandem mass spectrometry (LC-MS/MS)-based blood test enabling measurement of the 25-OH-D 3 :24,25-(OH) 2 D 3 ratio (R) can identify IIH patients on the basis of reduced C24-hydroxylation of 25-OH-D 3 by CYP24A1 in vivo. Although values of this ratio are significantly elevated in IIH, somewhat surprisingly, serum 24,25-(OH) 2 D 3 remains detectable. The current study explores possible explanations for this including: residual CYP24A1 enzyme activity in individuals with certain CYP24A1 genotypes, expression of alternative C24-hydroxylases, and the possibility of isobaric contamination of the 24,25-(OH) 2 D 3 peak on LC-MS/MS. We employed an extended 20-min run time on LC-MS/MS to study serum vitamin D metabolites in patients with IIH due to mutations of CYP24A1 or SLC34A1; in unaffected heterozygotes and dialysis patients; in patients with vitamin D deficiency; as well as in normal subjects exhibiting a broad range of 25-OH-D levels. We identified 25,26-(OH) 2 D 3 as a contaminant of the 24,25-(OH) 2 D 3 peak. In normals, the concentration of 24,25-(OH) 2 D 3 greatly exceeds 25,26-(OH) 2 D 3 ; however, 25,26-(OH) 2 D 3 becomes more significant in IIH with CYP24A1 mutations and in dialysis patients, where 24,25-(OH) 2 D 3 levels are low when CYP24A1 function is compromised. Mean R in 30 IIH-CYP24A1 patients was 700 (range, 166 to 2168; cutoff = 140) as compared with 31 in 163 controls. Furthermore, patients possessing CYP24A1 L409S alleles exhibited higher 24,25-(OH) 2 D 3 levels and lower R (mean R = 268; n = 8) than patients with other mutations. We conclude that a chromatographic approach which resolves 24,25-(OH) 2 D 3 from 25,26-(OH) 2 D 3 produces a more accurate R that can be used to differentiate pathological states where CYP24A1 activity is altered. The origin of the residual serum 24,25-(OH) 2 D 3 in IIH patients appears to be

Multivariate normality

NASA Technical Reports Server (NTRS)

Crutcher, H. L.; Falls, L. W.

1976-01-01

Sets of experimentally determined or routinely observed data provide information about the past, present and, hopefully, future sets of similarly produced data. An infinite set of statistical models exists which may be used to describe the data sets. The normal distribution is one model. If it serves at all, it serves well. If a data set, or a transformation of the set, representative of a larger population can be described by the normal distribution, then valid statistical inferences can be drawn. There are several tests which may be applied to a data set to determine whether the univariate normal model adequately describes the set. The chi-square test based on Pearson's work in the late nineteenth and early twentieth centuries is often used. Like all tests, it has some weaknesses which are discussed in elementary texts. Extension of the chi-square test to the multivariate normal model is provided. Tables and graphs permit easier application of the test in the higher dimensions. Several examples, using recorded data, illustrate the procedures. Tests of maximum absolute differences, mean sum of squares of residuals, runs and changes of sign are included in these tests. Dimensions one through five with selected sample sizes 11 to 101 are used to illustrate the statistical tests developed.

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.

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

Normal Coagulation

DTIC Science & Technology

2014-09-04

LO TTIN G with vitamin K antagonist...confidential until formal publication.6 F CHAPTER 34 Normal Coagulation 531 SE C T IO N 7 B LEED IN G A N D C LO TTIN G Table 34-1 Procoagulant...formal publication.8 F CHAPTER 34 Normal Coagulation 533 SE C T IO N 7 B LEED IN G A N D C LO TTIN G Figure 34-4 Vitamin K–dependent com-

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

[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.

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

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.

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.

Permeability of the small intestine to (/sup 51/Cr)EDTA in children with acute gastroenteritis or eczema

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

Forget, P.; Sodoyez-Goffaux, F.; Zappitelli, A.

1985-06-01

Increased gut permeability to macromolecules is thought to be an important factor in the development of food hypersensitivity. The latter can develop in the course of acute gastroenteritis and could play a role in infantile eczema. The authors studied gut permeability in 10 normal adults, 11 control children, 7 children with acute gastroenteritis, and 8 patients with infantile eczema, making use of (/sup 51/Cr)EDTA as probe molecule. (/sup 51/Cr)EDTA was given orally (50-100 microCi); 24-h urinary excretion of (/sup 51/Cr)EDTA was measured and expressed as a percentage of the oral dose. Mean and standard error were 2.35 +/- 0.24, 2.51more » +/- 0.21, 9.96 +/- 3.44, and 10.90 +/- 2.05 in normal adults, control children, and gastroenteritis and eczema patients, respectively. Differences between controls and either gastroenteritis (p less than 0.001) or eczema (p less than 0.001) patients are significant. The results support the hypothesis that increased gut permeability could play a role in food hypersensitivity.« less

New spatial upscaling methods for multi-point measurements: From normal to p-normal

NASA Astrophysics Data System (ADS)

Liu, Feng; Li, Xin

2017-12-01

Careful attention must be given to determining whether the geophysical variables of interest are normally distributed, since the assumption of a normal distribution may not accurately reflect the probability distribution of some variables. As a generalization of the normal distribution, the p-normal distribution and its corresponding maximum likelihood estimation (the least power estimation, LPE) were introduced in upscaling methods for multi-point measurements. Six methods, including three normal-based methods, i.e., arithmetic average, least square estimation, block kriging, and three p-normal-based methods, i.e., LPE, geostatistics LPE and inverse distance weighted LPE are compared in two types of experiments: a synthetic experiment to evaluate the performance of the upscaling methods in terms of accuracy, stability and robustness, and a real-world experiment to produce real-world upscaling estimates using soil moisture data obtained from multi-scale observations. The results show that the p-normal-based methods produced lower mean absolute errors and outperformed the other techniques due to their universality and robustness. We conclude that introducing appropriate statistical parameters into an upscaling strategy can substantially improve the estimation, especially if the raw measurements are disorganized; however, further investigation is required to determine which parameter is the most effective among variance, spatial correlation information and parameter p.

Visual Memories Bypass Normalization.

PubMed

Bloem, Ilona M; Watanabe, Yurika L; Kibbe, Melissa M; Ling, Sam

2018-05-01

How distinct are visual memory representations from visual perception? Although evidence suggests that briefly remembered stimuli are represented within early visual cortices, the degree to which these memory traces resemble true visual representations remains something of a mystery. Here, we tested whether both visual memory and perception succumb to a seemingly ubiquitous neural computation: normalization. Observers were asked to remember the contrast of visual stimuli, which were pitted against each other to promote normalization either in perception or in visual memory. Our results revealed robust normalization between visual representations in perception, yet no signature of normalization occurring between working memory stores-neither between representations in memory nor between memory representations and visual inputs. These results provide unique insight into the nature of visual memory representations, illustrating that visual memory representations follow a different set of computational rules, bypassing normalization, a canonical visual computation.

Group normalization for genomic data.

PubMed

Ghandi, Mahmoud; Beer, Michael A

2012-01-01

Data normalization is a crucial preliminary step in analyzing genomic datasets. The goal of normalization is to remove global variation to make readings across different experiments comparable. In addition, most genomic loci have non-uniform sensitivity to any given assay because of variation in local sequence properties. In microarray experiments, this non-uniform sensitivity is due to different DNA hybridization and cross-hybridization efficiencies, known as the probe effect. In this paper we introduce a new scheme, called Group Normalization (GN), to remove both global and local biases in one integrated step, whereby we determine the normalized probe signal by finding a set of reference probes with similar responses. Compared to conventional normalization methods such as Quantile normalization and physically motivated probe effect models, our proposed method is general in the sense that it does not require the assumption that the underlying signal distribution be identical for the treatment and control, and is flexible enough to correct for nonlinear and higher order probe effects. The Group Normalization algorithm is computationally efficient and easy to implement. We also describe a variant of the Group Normalization algorithm, called Cross Normalization, which efficiently amplifies biologically relevant differences between any two genomic datasets.

Visual Memories Bypass Normalization

PubMed Central

Bloem, Ilona M.; Watanabe, Yurika L.; Kibbe, Melissa M.; Ling, Sam

2018-01-01

How distinct are visual memory representations from visual perception? Although evidence suggests that briefly remembered stimuli are represented within early visual cortices, the degree to which these memory traces resemble true visual representations remains something of a mystery. Here, we tested whether both visual memory and perception succumb to a seemingly ubiquitous neural computation: normalization. Observers were asked to remember the contrast of visual stimuli, which were pitted against each other to promote normalization either in perception or in visual memory. Our results revealed robust normalization between visual representations in perception, yet no signature of normalization occurring between working memory stores—neither between representations in memory nor between memory representations and visual inputs. These results provide unique insight into the nature of visual memory representations, illustrating that visual memory representations follow a different set of computational rules, bypassing normalization, a canonical visual computation. PMID:29596038

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.

Group Normalization for Genomic Data

PubMed Central

Ghandi, Mahmoud; Beer, Michael A.

2012-01-01

Data normalization is a crucial preliminary step in analyzing genomic datasets. The goal of normalization is to remove global variation to make readings across different experiments comparable. In addition, most genomic loci have non-uniform sensitivity to any given assay because of variation in local sequence properties. In microarray experiments, this non-uniform sensitivity is due to different DNA hybridization and cross-hybridization efficiencies, known as the probe effect. In this paper we introduce a new scheme, called Group Normalization (GN), to remove both global and local biases in one integrated step, whereby we determine the normalized probe signal by finding a set of reference probes with similar responses. Compared to conventional normalization methods such as Quantile normalization and physically motivated probe effect models, our proposed method is general in the sense that it does not require the assumption that the underlying signal distribution be identical for the treatment and control, and is flexible enough to correct for nonlinear and higher order probe effects. The Group Normalization algorithm is computationally efficient and easy to implement. We also describe a variant of the Group Normalization algorithm, called Cross Normalization, which efficiently amplifies biologically relevant differences between any two genomic datasets. PMID:22912661

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

Ontogeny of Infantile Oral Reflexes and Emerging Chewing.

ERIC Educational Resources Information Center

Sheppard, Justine Joan; Mysak, Edward D.

1984-01-01

To document movement patterns and to examine developmental interrelationships, the ontogeny of rooting, lip, lateral tongue, mouth opening, biting, and Babkin reflexes and the development of emerging chewing behaviors were observed in two normal infants over a period from 1 week to 35 weeks of age. (Author/RH)

Is this the right normalization? A diagnostic tool for ChIP-seq normalization.

PubMed

Angelini, Claudia; Heller, Ruth; Volkinshtein, Rita; Yekutieli, Daniel

2015-05-09

Chip-seq experiments are becoming a standard approach for genome-wide profiling protein-DNA interactions, such as detecting transcription factor binding sites, histone modification marks and RNA Polymerase II occupancy. However, when comparing a ChIP sample versus a control sample, such as Input DNA, normalization procedures have to be applied in order to remove experimental source of biases. Despite the substantial impact that the choice of the normalization method can have on the results of a ChIP-seq data analysis, their assessment is not fully explored in the literature. In particular, there are no diagnostic tools that show whether the applied normalization is indeed appropriate for the data being analyzed. In this work we propose a novel diagnostic tool to examine the appropriateness of the estimated normalization procedure. By plotting the empirical densities of log relative risks in bins of equal read count, along with the estimated normalization constant, after logarithmic transformation, the researcher is able to assess the appropriateness of the estimated normalization constant. We use the diagnostic plot to evaluate the appropriateness of the estimates obtained by CisGenome, NCIS and CCAT on several real data examples. Moreover, we show the impact that the choice of the normalization constant can have on standard tools for peak calling such as MACS or SICER. Finally, we propose a novel procedure for controlling the FDR using sample swapping. This procedure makes use of the estimated normalization constant in order to gain power over the naive choice of constant (used in MACS and SICER), which is the ratio of the total number of reads in the ChIP and Input samples. Linear normalization approaches aim to estimate a scale factor, r, to adjust for different sequencing depths when comparing ChIP versus Input samples. The estimated scaling factor can easily be incorporated in many peak caller algorithms to improve the accuracy of the peak identification. The

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.

Investigating febrile UTI in infants: is a cystogram necessary?

PubMed

Soccorso, G; Wagstaff, J; Blakey, K; Moss, G D; Broadley, P; Roberts, J P; Godbole, P

2010-04-01

Current imaging recommendations for investigating any infantile febrile urinary tract infection (UTI) are ultrasound scan (US), micturating cystourethrogram (MCUG) and dimercaptosuccinic acid (DMSA) scan. The aim of this retrospective cohort study was to determine the need and indications for MCUG in the investigation of a first febrile infantile UTI, as doubts have been raised over its benefit. Information on 427 infants who had undergone US, MCUG and DMSA following a first febrile UTI was prospectively recorded. The infants were divided into two groups: A (354) with normal renal US and B (73) with abnormal US. DMSA findings were correlated with findings on MCUG. Main outcome measures were incidence of recurrent UTIs, change in management or intervention as a result of MCUG, and outcome at discharge. Only 21/354 (6%) infants in Group A had both scarring on DMSA and vesicoureteric reflux (VUR), predominantly low-grade on MCUG. In Group B (abnormal US), 23/73 (32%) had scarring on DMSA and vesicoureteric reflux, predominantly high grade on MCUG. Of the infants with non-scarred kidneys, 73% had dilating reflux. Successful conservative treatment was performed in 423 infants, and 4 infants in Group B required surgery. We recommend US and DMSA in all infantile febrile UTI cases. Where US is normal, MCUG should be reserved for those cases with abnormal DMSA. Where US is abnormal, MCUG should be performed irrespective of findings on DMSA scan. A randomized prospective study is necessary to evaluate this further. Copyright © 2009 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

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.

Statokinesigram normalization method.

PubMed

de Oliveira, José Magalhães

2017-02-01

Stabilometry is a technique that aims to study the body sway of human subjects, employing a force platform. The signal obtained from this technique refers to the position of the foot base ground-reaction vector, known as the center of pressure (CoP). The parameters calculated from the signal are used to quantify the displacement of the CoP over time; there is a large variability, both between and within subjects, which prevents the definition of normative values. The intersubject variability is related to differences between subjects in terms of their anthropometry, in conjunction with their muscle activation patterns (biomechanics); and the intrasubject variability can be caused by a learning effect or fatigue. Age and foot placement on the platform are also known to influence variability. Normalization is the main method used to decrease this variability and to bring distributions of adjusted values into alignment. In 1996, O'Malley proposed three normalization techniques to eliminate the effect of age and anthropometric factors from temporal-distance parameters of gait. These techniques were adopted to normalize the stabilometric signal by some authors. This paper proposes a new method of normalization of stabilometric signals to be applied in balance studies. The method was applied to a data set collected in a previous study, and the results of normalized and nonnormalized signals were compared. The results showed that the new method, if used in a well-designed experiment, can eliminate undesirable correlations between the analyzed parameters and the subjects' characteristics and show only the experimental conditions' effects.

Evaluation of gastro-oesophageal reflux disease in wheezy infants using 24-h oesophageal combined impedance and pH monitoring.

PubMed

Abdallah, Ahmed; El-Desoky, Tarek; Fathi, Khalid; Fawzi Elkashef, Wagdi; Zaki, Ahmed

2017-06-01

Gastro-oesophageal reflux disease (GERD) is incriminated as a cause of non-asthmatic infantile wheeze. To date, no diagnostic test is considered standard for GERD-related airway reflux diagnosis. Oesophageal combined multiple channel intraluminal impedance and pH (MII-pH) monitoring is proposed to be a sensitive tool for evaluation of all GERD including infantile wheeze. We aimed to determine the GERD prevalence amongst wheezy infants in the first year of life using combined MII-pH versus pH monitoring alone and evaluate the sensitivity and specificity of objective MII-pH monitoring parameters in GERD-associated infantile wheeze diagnosis compared to those of lipid-laden macrophage index (LLMI). Thirty-eight wheezy infants below 1year of age were evaluated for GERD using oesophageal combined MII-pH monitoring and LLMI. Totally, 60.5% of cases had abnormal MII-pH; only 7.9% of them had abnormal pH monitoring. LLMI was significantly higher in wheezy infants with abnormal MII-pH than infants with normal MII-pH monitoring (112±88 versus 70±48; P=0.036). The current definitions of abnormal MII-pH study, reflux index≥10% and distal reflux episodes≥100, had low sensitivity (23%) but high specificity (100% and 96%, respectively) in GERD-related aspiration diagnosis defined by LLMI≥100. Using ROC curves, bolus contact time≥2.4% and proximal reflux episodes≥46 had 61% and 54% sensitivity and 64% and 76% specificity, respectively, in GERD-related aspiration diagnosis. Combined MII-pH is superior to pH monitoring in reflux-associated infantile wheeze diagnosis. Objective data including proximal reflux episodes and bolus contact time should be combined with the current parameters used in reflux-associated infantile wheeze diagnosis. Copyright © 2017 Pan-Arab Association of Gastroenterology. Published by Elsevier B.V. All rights reserved.

Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.

PubMed

Wilmshurst, Jo M; Gaillard, William D; Vinayan, Kollencheri Puthenveettil; Tsuchida, Tammy N; Plouin, Perrine; Van Bogaert, Patrick; Carrizosa, Jaime; Elia, Maurizio; Craiu, Dana; Jovic, Nebojsa J; Nordli, Doug; Hirtz, Deborah; Wong, Virginia; Glauser, Tracy; Mizrahi, Eli M; Cross, J Helen

2015-08-01

Evidence-based guidelines, or recommendations, for the management of infants with seizures are lacking. A Task Force of the Commission of Pediatrics developed a consensus document addressing diagnostic markers, management interventions, and outcome measures for infants with seizures. Levels of evidence to support recommendations and statements were assessed using the American Academy of Neurology Guidelines and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. The report contains recommendations for different levels of care, noting which would be regarded as standard care, compared to optimal care, or "state of the art" interventions. The incidence of epilepsy in the infantile period is the highest of all age groups (strong evidence), with epileptic spasms the largest single subgroup and, in the first 2 years of life, febrile seizures are the most commonly occurring seizures. Acute intervention at the time of a febrile seizure does not alter the risk for subsequent epilepsy (class 1 evidence). The use of antipyretic agents does not alter the recurrence rate (class 1 evidence), and there is no evidence to support initiation of regular antiepileptic drugs for simple febrile seizures (class 1 evidence). Infants with abnormal movements whose routine electroencephalography (EEG) study is not diagnostic, would benefit from video-EEG analysis, or home video to capture events (expert opinion, level U recommendation). Neuroimaging is recommended at all levels of care for infants presenting with epilepsy, with magnetic resonance imaging (MRI) recommended as the standard investigation at tertiary level (level A recommendation). Genetic screening should not be undertaken at primary or secondary level care (expert opinion). Standard care should permit genetic counseling by trained personal at all levels of care (expert opinion). Genetic evaluation for Dravet syndrome, and other infantile-onset epileptic encephalopathies, should be available

Causes of mortality in early infantile epileptic encephalopathy: A systematic review.

PubMed

Radaelli, Graciane; de Souza Santos, Francisco; Borelli, Wyllians Vendramini; Pisani, Leonardo; Nunes, Magda Lahorgue; Scorza, Fulvio Alexandre; da Costa, Jaderson Costa

2018-06-12

Early infantile epileptic encephalopathy syndrome (EIEE), also known as Ohtahara syndrome, is an age-dependent epileptic encephalopathy syndrome defined by clinical features and electroencephalographic findings. Epileptic disorders with refractory seizures beginning in the neonatal period and/or early infancy have a potential risk of premature mortality, including sudden death. We aimed to identify the causes of death in EIEE and conducted a literature survey of fatal outcomes. We performed a literature search in MEDLINE, EMBASE, and Web of Science for data from inception until September 2017. The terms "death sudden," "unexplained death," "SUDEP," "lethal," and "fatal" and the medical subject heading terms "epileptic encephalopathy," "mortality," "death," "sudden infant death syndrome," and "human" were used in the search strategy. The EIEE case report studies reporting mortality were included. The search yielded 1360 articles. After screening for titles and abstracts and removing duplicate entries, full texts of 15 articles were reviewed. After reading full texts, 11 articles met the inclusion criteria (9 articles in English and 2 in Japanese, dated from 1976 to 2015). The review comprised 38 unique cases of EIEE, 17 of which had death as an outcome. In all cases, the suppression-burst pattern on electroencephalographies (EEGs) was common. Most cases (55%) involved male infants. The mean (standard deviation [SD]) age at onset of seizure was 19.6 ± 33 days. The mean (SD) age at death was 12.9 ± 14.1 months. Most infants (58.8%) survived less than one year. The cause of death was described only in eight (47%) patients; the cause was pneumonia/respiratory illness or sudden unexpected death in epilepsy (SUDEP). The results show EIEE as a severe disease associated with a premature mortality, evidenced by a very young age at death. Increasing interest in the detection of new molecular bases of EIEE is leading us to a better understanding of this severe

Neurodevelopmental outcome of infantile spasms: A systematic review and meta-analysis.

PubMed

Widjaja, Elysa; Go, Cristina; McCoy, Blathnaid; Snead, O Carter

2015-01-01

The aims of this systematic review and meta-analysis were to assess (i) estimates of good neurodevelopmental outcome in infantile spasms (IS), (ii) if neurodevelopmental outcome has changed since the publication of the first guideline on medical treatment of IS in 2004 and (iii) effect of lead time to treatment (LTTT). The Medline, Embase, Cochrane, PsycINFO, Web of Science and Scopus databases, and reference lists of retrieved articles were searched. Studies inclusion criteria were: (i) >5 patients with IS, (ii) mean/median follow-up of >6 months, (iii) neurodevelopmental outcome, and (iv) randomized and observational studies. The data extracted included proportion of good neurodevelopmental outcome, year of publication, cryptogenic or symptomatic IS and LTTT. Of the 1436 citations screened, 55 articles were included in final analysis, with a total of 2967 patients. The pooled estimate for good neurodevelopmental outcome was 0.236 (95% CI: 0.193-0.286). There was no difference between the proportions of good neurodevelopmental outcome for the 21 studies published after 2004 [0.264 (95% CI: 0.197-0.344)] compared to the 34 studies published before 2004 [0.220 (95% CI: 0.168-0.283)] (Q value=0.862, p=0.353). The pooled estimate of good neurodevelopmental outcome for cryptogenic IS [0.543 (95% CI: 0.458-0.625)] was higher than symptomatic IS [0.125 (95% CI: 0.09-0.171)] (Q value=69.724, p<0.001). Risk ratio of LTTT <4weeks relative to >4weeks for good neurodevelopmental outcome of 8 studies was 1.519 (95% CI: 1.064-2.169). Neurodevelopmental outcome was overall poor in patients with IS and has not changed since the publication of first guideline on IS. Although cryptogenic IS has better prognosis than symptomatic IS, the outcome for cryptogenic IS remained poor. There was heterogeneity in neurodevelopmental outcome ascertainment methods, highlighting the need for a more standardized and comprehensive assessment of cognitive, behavioural, emotional and functional

NOAA predicts near-normal or below-normal 2014 Atlantic hurricane season

Science.gov Websites

Related link: Atlantic Basin Hurricane Season Outlook Discussion El Niño/Southern Oscillation (ENSO predicts near-normal or below-normal 2014 Atlantic hurricane season El Niño expected to develop and . The main driver of this year's outlook is the anticipated development of El Niño this summer. El NiÃ

Estereotipos Sexuales y su Relación con Conductas Sexuales Riesgosas1,2,3

PubMed Central

Pérez-Jiménez, David; Orengo-Aguayo, Rosaura E.

2012-01-01

Resumen Los estereotipos sexuales son creencias generalmente aceptadas y poco cuestionadas que podrían contribuir a cómo los hombres y las mujeres debemos expresar nuestra sexualidad. Los objetivos de este estudio eran identificar cuántos hombres y mujeres heterosexuales en Puerto Rico endosaban ciertos estereotipos acerca de la sexualidad masculina y femenina y explorar la relación entre el endoso de estos estereotipos sexuales y las actitudes hacia el condón masculino y su uso en relaciones sexuales vaginales Llevamos a cabo un estudio descriptivo-correlacional mediante el cual le administramos dos escalas, una sobre sexualidad masculina y otra sobre sexualidad femenina a un grupo de 429 personas heterosexuales. Encontramos que los hombres endosaron estereotipos sexuales masculinos y femeninos más que las mujeres y que estos tienden a tener una visión más conservadora respecto a la sexualidad femenina que la que tienen sobre su propia sexualidad. Las mujeres, por otra parte, tienden a ver su propia sexualidad y la sexualidad masculina en términos menos estereotipados y más equitativos. También encontramos que a mayor endoso de creencias tradicionales sobre la sexualidad masculina y femenina, peor la actitud hacia el uso del condón masculino. Sin embargo, el endosar estereotipos sexuales masculinos y/o femeninos no se relacionó con el uso del condón. Estos hallazgos contradicen la literatura que sugiere que estos estereotipos sexuales y de género resultan en conductas sexuales de alto riesgo, lo cual tiene implicaciones importantes para el desarrollo e implementación de programas de prevención. PMID:24575164

Impaired IQ and Academic Skills in Adults Who Experienced Moderate to Severe Infantile Malnutrition: A Forty-Year Study

PubMed Central

Waber, Deborah P.; Bryce, Cyralene P.; Girard, Jonathan M.; Zichlin, Miriam; Fitzmaurice, Garrett M.; Galler, Janina R.

2013-01-01

Objectives 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. Methods 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. Results 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 9 times more prevalent in the previously malnourished group (OR=9.18; 95% CI=3.50-24.13). Group differences in IQ of approximately one standard deviation were stable from adolescence through mid-life. Discussion 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. PMID:23484464

Increased risk of mother-to-infant transmission of hepatitis C virus by intrapartum infantile exposure to maternal blood.

PubMed

Steininger, Christoph; Kundi, Michael; Jatzko, Gerlinde; Kiss, Herbert; Lischka, Andreas; Holzmann, Heidemarie

2003-02-01

Virological and clinical data from 73 hepatitis C virus (HCV)-infected pregnant women who gave birth to 75 children were merged retrospectively, by logistic regression analysis, to investigate risk factors for vertical transmission of HCV. Eighty-two percent of the HCV-infected mothers were HCV-RNA-positive during pregnancy, and 10% were coinfected with human immunodeficiency virus (HIV). Nine children were HCV infected, 1 was HIV infected, but none was HIV-HCV coinfected. Among vaginal deliveries, the mean HCV load of mothers who transmitted HCV to their infants was higher than that of those who did not (8.1 x 10(5) vs. 1.4 x 10(4) copies/mL; P=.056). A reduction in umbilical cord-blood pH (relative risk, 3.9; P=.04) or the occurrence of perineal or vaginal laceration (relative risk, 6.4; P=.028) during vaginal delivery significantly increased the risk of vertical HCV transmission. In conclusion, high maternal viremia, infantile hypoxia, and intrapartum exposure to virus-contaminated maternal blood increased the risk of HCV transmission during vaginal deliveries. Consequently, cesarean section may reduce the risk of vertical HCV transmission in selected cases.

Survival Advantage of Neonatal CNS Gene Transfer for Late Infantile Neuronal Ceroid Lipofuscinosis

PubMed Central

Sondhi, Dolan; Peterson, Daniel A.; Edelstein, Andrew M.; del Fierro, Katrina; Hackett, Neil R.; Crystal, Ronald G.

2009-01-01

Summary Late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal autosomal recessive neurodegenerative lysosomal storage disorder of childhood, is caused by mutations in the CLN2 gene, resulting in deficiency of the protein tripeptidyl peptidase I (TPP-I). We have previously shown that direct CNS administration of AAVrh.10hCLN2 to adult CLN2 knockout mice, a serotype rh.10 adeno-associated virus expressing the wild type CLN2 cDNA, will partially improve neurological function and survival. In this study, we explore the hypothesis that administration of AAVrh.10hCLN2 to the neonatal brain will significantly improve the results of AAVrh.10hCLN2 therapy. To assess this concept, AAVrh.10hCLN2 vector was administered directly to the CNS of CLN2 knockout mice at 2 days, 3 wk and 7 wk of age. While all treatment groups show a marked increase in total TPP-I activity over wild-type mice, neonatally treated mice displayed high levels of TPP-I activity in the CNS 1 yr after administration which was spread throughout the brain. Using behavioral markers, 2 day treated mice demonstrate marked improvement over 3 wk, 7 wk or untreated mice. Finally, neonatal administration of AAVrh.10hCLN2 was associated with markedly enhanced survival, with a median time of death 376 days for neonatal treated mice, 277 days for 3 wk treated mice, 168 days for 7 wk treated mice, and 121 days for untreated mice. These data suggest that neonatal treatment offers many unique advantages, and that early detection and treatment may be essential for maximal gene therapy for childhood lysosomal storage disorders affecting the CNS. PMID:18639872

Normal people working in normal organizations with normal equipment: system safety and cognition in a mid-air collision.

PubMed

de Carvalho, Paulo Victor Rodrigues; Gomes, José Orlando; Huber, Gilbert Jacob; Vidal, Mario Cesar

2009-05-01

A fundamental challenge in improving the safety of complex systems is to understand how accidents emerge in normal working situations, with equipment functioning normally in normally structured organizations. We present a field study of the en route mid-air collision between a commercial carrier and an executive jet, in the clear afternoon Amazon sky in which 154 people lost their lives, that illustrates one response to this challenge. Our focus was on how and why the several safety barriers of a well structured air traffic system melted down enabling the occurrence of this tragedy, without any catastrophic component failure, and in a situation where everything was functioning normally. We identify strong consistencies and feedbacks regarding factors of system day-to-day functioning that made monitoring and awareness difficult, and the cognitive strategies that operators have developed to deal with overall system behavior. These findings emphasize the active problem-solving behavior needed in air traffic control work, and highlight how the day-to-day functioning of the system can jeopardize such behavior. An immediate consequence is that safety managers and engineers should review their traditional safety approach and accident models based on equipment failure probability, linear combinations of failures, rules and procedures, and human errors, to deal with complex patterns of coincidence possibilities, unexpected links, resonance among system functions and activities, and system cognition.

[An evaluation of the 4 years of the Oral Rehydration Service of the Hospital Infantil de Monterrey].

PubMed

Muraira-Gutiérrez, A; Méndez-Jara, A; Ruiz-Villalpando, G

1992-06-01

At four years of being founded the Service of Oral Hydration from Hospital Infantil de Monterrey, we carried out this investigation to know its productivity, to determine costs of internments, death rates due to diarrhea and dehydration in the hospital and at a State level. The statistics from the hospital were revised in the previous and subsequent years to the institution of the Service in September of 1986, so as the statistics of death due to diarrhea from the State Health Department. The cases attended were 12,139, from which 9,024 belonged to plan A, 2,983 to plan B and 72 to plan C. Three hundred (300) doctors were trained and nine (9) research studies were accomplished. A decrease was achieved from the hospital rate admission by diarrhea and dehydration, throw the oral dehydration therapy in a 66%, the mortality rate was reduced 72% and an expenditure of $619,243,480.00 pesos in drugs and auxiliary examinations of diagnostic was avoided. At a State level the general death rate due to diarrhea got a cutdown of 13.1 to 5.8, and in infants under a year old decreased from 275 to 122.3. The oral hydration therapy applied in the State seems to be the main reason in that results.

Infantile hemangioma: treatment with short course systemic corticosteroid therapy as an alternative for propranolol.

PubMed

Nieuwenhuis, Klaske; de Laat, Peter C J; Janmohamed, Sherief R; Madern, Gerard C; Oranje, Arnold P

2013-01-01

Infantile hemangiomas (IHs) are increasingly being treated with propranolol or other beta-blockers, but before this therapeutic option was available, oral glucocorticosteroids (GCSs) were the criterion standard treatment and are still the alternative modality in problematic cases. Nevertheless, there is no standard treatment protocol for the dose and duration of GCSs. Long-term treatment with GCSs is associated with unwanted side effects such as growth suppression, behavioral changes, and reflux. Twenty-one children with troublesome IHs were treated according to an algorithm with 3 mg/kg/day of oral prednisolone divided three times per day with varying duration and number of GCS courses. Two blinded investigators independently interpreted therapy results using the Hemangioma Activity Score (HAS). Side effects were determined according to reports in patient charts and parental questionnaires. The median duration of a short course of GCSs was 2 weeks (range 1-6 weeks). The number of courses was 2 (range 1-5). The median cumulative dose was 91 mg/kg. Growth stabilized in all patients, with a good response (>50% reduction in HAS) in 62% and a favorable response (30-50% reduction is HAS) in 23%. Twelve of the 21 children (57%) had minor side effects. Persistent side effects did not occur. Intermittent short course, systemic, high-dose GCS therapy is an effective and safe treatment modality for IH, with a substantially lower cumulative dose of GCSs compared to prolonged therapy and no major side effects. This treatment is an alternative in cases in which propranolol fails or is contraindicated. © 2012 Wiley Periodicals, Inc.

Sympathetic nerve traffic and baroreflex function in optimal, normal, and high-normal blood pressure states.

PubMed

Seravalle, Gino; Lonati, Laura; Buzzi, Silvia; Cairo, Matteo; Quarti Trevano, Fosca; Dell'Oro, Raffaella; Facchetti, Rita; Mancia, Giuseppe; Grassi, Guido

2015-07-01

Adrenergic activation and baroreflex dysfunction are common in established essential hypertension, elderly hypertension, masked and white-coat hypertension, resistant hypertension, and obesity-related hypertension. Whether this autonomic behavior is peculiar to established hypertension or is also detectable in the earlier clinical phases of the disease, that is, the high-normal blood pressure (BP) state, is still largely undefined, however. In 24 individuals with optimal BP (age: 37.1  ±  2.1 years, mean  ±  SEM) and in 27 with normal BP and 38 with high-normal BP, age matched with optimal BP, we measured clinic, 24-h and beat-to-beat BP, heart rate (HR), and muscle sympathetic nerve activity (MSNA) at rest and during baroreceptor stimulation and deactivation. Measurements also included anthropometric as well as echocardiographic and homeostasis model assessment (HOMA) index. For similar anthropometric values, clinic, 24-h ambulatory, and beat-to-beat BPs were significantly greater in normal BP than in optimal BP. This was the case when the high-normal BP group was compared to the normal and optimal BP groups. MSNA (but not HR) was also significantly greater in high-normal BP than in normal BP and optimal BP (51.3  ±  2.0 vs. 40.3  ±  2.3 and 41.1 ± 2.6  bursts per 100  heartbeats, respectively, P < 0.01). The sympathetic activation seen in high-normal BP was coupled with an impairment of baroreflex HR control (but not MSNA) and with a significant increase in HOMA Index, which showed a significant direct relationship with MSNA. Thus, independently of which BP the diagnosis is based, high-normal BP is a condition characterized by a sympathetic activation. This neurogenic alteration, which is likely to be triggered by metabolic rather than reflex alterations, might be involved, together with other factors, in the progression of the condition to established hypertension.

Upper-normal waist circumference is a risk marker for metabolic syndrome in normal-weight subjects.

PubMed

Okada, R; Yasuda, Y; Tsushita, K; Wakai, K; Hamajima, N; Matsuo, S

2016-01-01

To elucidate implication of upper-normal waist circumference (WC), we examined whether the normal range of WC still represents a risk of metabolic syndrome (MetS) or non-adipose MetS components among normal-weight subjects. A total of 173,510 persons (100,386 men and 73,124 women) with normal WC (<90/80 cm in men/women) and body mass index (BMI) of 18.5-24.9 were included. Subjects were categorized as having low, moderate, and upper-normal WC for those with WC < 80, 80-84, and 85-89 cm in men and <70, 70-74, and 75-79 cm in women, respectively. The prevalence of all the non-adipose MetS components (e.g. prediabetes and borderline dyslipidemia) was significantly higher in subjects with upper-normal WC on comparison with those with low WC. Overall, the prevalence of MetS (having three or more of four non-adipose MetS components) gradually increased with increasing WC (12%, 21%, and 27% in men and 11%, 14%, and 19% in women for low, moderate, and upper-normal WC, respectively). Moreover, the risk of having a greater number of MetS components increased in subjects with upper-normal WC compared with those with low WC (odds ratios for the number of one, two, three, and four MetS components: 1.29, 1.81, 2.53, and 2.47 in men and 1.16, 1.55, 1.49, and 2.20 in women, respectively). Upper-normal WC represents a risk for acquiring a greater number of MetS components and the early stage of MetS components (prediabetes and borderline dyslipidemia), after adjusting for BMI, in a large general population with normal WC and BMI. Copyright © 2015 The Italian Society of Diabetology, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition, and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.

The cost-effectiveness of enzyme replacement therapy (ERT) for the infantile form of Pompe disease: comparing a high-income country's approach (England) to that of a middle-income one (Colombia).

PubMed

Castro-Jaramillo, Héctor E

2012-01-01

Determining the cost-effectiveness of enzyme replacement therapy (ERT) for the classical infantile form of Pompe disease (complete acid a-glucosidase deficiency-related) in two different settings: England and Colombia. Pompe disease is very rare (1:40,000 births incidence). A literature review was made and historic databases searched for National Health Service (NHS) reimbursed costs in England and by health insurers in Colombia; expert opinion was elicited. Two Markov models were constructed for comparing both countries; alive with symptoms and dead were the transition states used. Patients aged < 6 months receiving ERT were assumed to have 75 % survival rate and better health-related quality of life (HR-QoL) compared to those without treatment (0.700 HR- QoL using the EQ-5D scale). The incremental cost-effectiveness ratio (ICER) per quality-adjusted life year (QALY) gained was £234,307.7 for England and £109,991 for Colombia. Uncertainty about Anal HR-QoL with ERT, disease progression and cost from palliative care had the biggest impact on the ICER in both models. If ERT costs were reduced to 10,000 times per dose and HR-QoL was 0.750-0.820 ICER, then £165,000 could be attainable for England and £65,000 for Colombia. Transaction costs per case in Colombia were high. ERT was more effective than no ERT in treating infantile Pompe disease, but high levels of uncertainty still remain about survival and progression rates and QoL in the long-run. ICERs were high compared to CE thresholds. Manufacturers' ERT costs and monopoly had a major impact on Anal CEA results.

Proposed categorization of pathological states of EBV-associated T/natural killer-cell lymphoproliferative disorder (LPD) in children and young adults: overlap with chronic active EBV infection and infantile fulminant EBV T-LPD.

PubMed

Ohshima, Koichi; Kimura, Hiroshi; Yoshino, Tadashi; Kim, Chul Woo; Ko, Young H; Lee, Seung-Suk; Peh, Suat-Cheng; Chan, John K C

2008-04-01

EBV-associated T/natural killer (NK)-cell lymphoproliferative disorder (EBV-T/NK LPD) of children and young adults is generally referred to with the blanket nosological term of severe chronic active EBV infection (CAEBV). This disease is rare, associated with high morbidity and mortality, and appears to be more prevalent in East Asian countries. But because there is no grading or categorization system for CAEBV, pathologists and clinicians often disagree regarding diagnosis and therapy. EBV-T/NK LPD includes polyclonal, oligoclonal, and monoclonal proliferation of cytotoxic T and/or NK cells. Moreover, a unique disease previously described as infantile fulminant EBV-associated T-LPD has been identified and overlaps with EBV-T/NK LPD. In the present review a clinicopathological categorization of EBV-T/NK LPD is proposed, based on pathological evaluation and molecular data, as follows: (i) category A1, polymorphic LPD without clonal proliferation of EBV-infected cells; (ii) category A2, polymorphic LPD with clonality; (iii) category A3, monomorphic LPD (T-cell or NK cell lymphoma/leukemia) with clonality; and (iv) category B, monomorphic LPD (T-cell lymphoma) with clonality and fulminant course. Categories A1, A2, and A3 possibly constitute a continuous spectrum and together are equivalent to CAEBV. Category B is the exact equivalent of infantile fulminant EBV-associated T-LPD. It is expected that this categorization system will provide a guide for the better understanding of this disorder. This proposal was approved at the third meeting of the Asian Hematopathology Association (Nagoya, 2006).

Supervised normalization of microarrays

PubMed Central

Mecham, Brigham H.; Nelson, Peter S.; Storey, John D.

2010-01-01

Motivation: A major challenge in utilizing microarray technologies to measure nucleic acid abundances is ‘normalization’, the goal of which is to separate biologically meaningful signal from other confounding sources of signal, often due to unavoidable technical factors. It is intuitively clear that true biological signal and confounding factors need to be simultaneously considered when performing normalization. However, the most popular normalization approaches do not utilize what is known about the study, both in terms of the biological variables of interest and the known technical factors in the study, such as batch or array processing date. Results: We show here that failing to include all study-specific biological and technical variables when performing normalization leads to biased downstream analyses. We propose a general normalization framework that fits a study-specific model employing every known variable that is relevant to the expression study. The proposed method is generally applicable to the full range of existing probe designs, as well as to both single-channel and dual-channel arrays. We show through real and simulated examples that the method has favorable operating characteristics in comparison to some of the most highly used normalization methods. Availability: An R package called snm implementing the methodology will be made available from Bioconductor (http://bioconductor.org). Contact: jstorey@princeton.edu Supplementary information: Supplementary data are available at Bioinformatics online. PMID:20363728

Laser-scanned fluorescence of nonlased/normal, lased/normal, nonlased/carious, and lased/carious enamel

NASA Astrophysics Data System (ADS)

Zakariasen, Kenneth L.; Barron, Joseph R.; Paton, Barry E.

1992-06-01

Research has shown that low levels of CO2 laser irradiation raise enamel resistance to sub-surface demineralization. Additionally, laser scanned fluorescence analysis of enamel, as well a laser and white light reflection studies, have potential for both clinical diagnosis and comparative research investigations of the caries process. This study was designed to compare laser fluorescence and laser/white light reflection of (1) non-lased/normal with lased/normal enamel and (2) non-lased/normal with non-lased/carious and lased/carious enamel. Specimens were buccal surfaces of extracted third molars, coated with acid resistant varnish except for either two or three 2.25 mm2 windows (two window specimens: non-lased/normal, lased/normal--three window specimens: non-lased/normal, non-lased carious, lased/carious). Teeth exhibiting carious windows were immersed in a demineralizing solution for twelve days. Non-carious windows were covered with wax during immersion. Following immersion, the wax was removed, and fluorescence and laser/white light reflection analyses were performed on all windows utilizing a custom scanning laser fluorescence spectrometer which focuses light from a 25 mWatt He-Cd laser at 442 nm through an objective lens onto a cross-section >= 3 (mu) in diameter. For laser/white light reflection analyses, reflected light intensities were measured. A HeNe laser was used for laser light reflection studies. Following analyses, the teeth are sectioned bucco-lingually into 80 micrometers sections, examined under polarized light microscopy, and the lesions photographed. This permits comparison between fluorescence/reflected light values and the visualized decalcification areas for each section, and thus comparisons between various enamel treatments and normal enamel. The enamel specimens are currently being analyzed.

Enzyme replacement therapy for murine hypophosphatasia.

PubMed

Millán, José Luis; Narisawa, Sonoko; Lemire, Isabelle; Loisel, Thomas P; Boileau, Guy; Leonard, Pierre; Gramatikova, Svetlana; Terkeltaub, Robert; Camacho, Nancy Pleshko; McKee, Marc D; Crine, Philippe; Whyte, Michael P

2008-06-01

Hypophosphatasia (HPP) is the inborn error of metabolism that features rickets or osteomalacia caused by loss-of-function mutation(s) within the gene that encodes the tissue-nonspecific isozyme of alkaline phosphatase (TNALP). Consequently, natural substrates for this ectoenzyme accumulate extracellulary including inorganic pyrophosphate (PPi), an inhibitor of mineralization, and pyridoxal 5'-phosphate (PLP), a co-factor form of vitamin B6. Babies with the infantile form of HPP often die with severe rickets and sometimes hypercalcemia and vitamin B6-dependent seizures. There is no established medical treatment. Human TNALP was bioengineered with the C terminus extended by the Fc region of human IgG for one-step purification and a deca-aspartate sequence (D10) for targeting to mineralizing tissue (sALP-FcD10). TNALP-null mice (Akp2-/-), an excellent model for infantile HPP, were treated from birth using sALP-FcD10. Short-term and long-term efficacy studies consisted of once daily subcutaneous injections of 1, 2, or 8.2 mg/kg sALP-FcD10 for 15, 19, and 15 or 52 days, respectively. We assessed survival and growth rates, circulating levels of sALP-FcD10 activity, calcium, PPi, and pyridoxal, as well as skeletal and dental manifestations using radiography, microCT, and histomorphometry. Akp2-/- mice receiving high-dose sALP-FcD10 grew normally and appeared well without skeletal or dental disease or epilepsy. Plasma calcium, PPi, and pyridoxal concentrations remained in their normal ranges. We found no evidence of significant skeletal or dental disease. Enzyme replacement using a bone-targeted, recombinant form of human TNALP prevents infantile HPP in Akp2-/- mice.

Initiation and Use of Propranolol for Infantile Hemangioma: Report of a Consensus Conference

PubMed Central

Frommelt, Peter C.; Chamlin, Sarah L.; Haggstrom, Anita; Bauman, Nancy M.; Chiu, Yvonne E.; Chun, Robert H.; Garzon, Maria C.; Holland, Kristen E.; Liberman, Leonardo; MacLellan-Tobert, Susan; Mancini, Anthony J.; Metry, Denise; Puttgen, Katherine B.; Seefeldt, Marcia; Sidbury, Robert; Ward, Kendra M.; Blei, Francine; Baselga, Eulalia; Cassidy, Laura; Darrow, David H.; Joachim, Shawna; Kwon, Eun-Kyung M.; Martin, Kari; Perkins, Jonathan; Siegel, Dawn H.; Boucek, Robert J.; Frieden, Ilona J.

2013-01-01

Infantile hemangiomas (IHs) are common neoplasms composed of proliferating endothelial-like cells. Despite the relative frequency of IH and the potential severity of complications, there are currently no uniform guidelines for treatment. Although propranolol has rapidly been adopted, there is significant uncertainty and divergence of opinion regarding safety monitoring, dose escalation, and its use in PHACE syndrome (PHACE = posterior fossa, hemangioma, arterial lesions, cardiac abnormalities, eye abnormalities; a cutaneous neurovascular syndrome characterized by large, segmental hemangiomas of the head and neck along with congenital anomalies of the brain, heart, eyes and/or chest wall). A consensus conference was held on December 9, 2011. The multidisciplinary team reviewed existing data on the pharmacologic properties of propranolol and all published reports pertaining to the use of propranolol in pediatric patients. Workgroups were assigned specific topics to propose protocols on the following subjects: contraindications, special populations, pretreatment evaluation, dose escalation, and monitoring. Consensus protocols were recorded during the meeting and refined after the meeting. When appropriate, protocol clarifications and revision were made and agreed upon by the group via teleconference. Because of the absence of high-quality clinical research data, evidence-based recommendations are not possible at present. However, the team agreed on a number of recommendations that arose from a review of existing evidence, including when to treat complicated IH; contraindications and pretreatment evaluation protocols; propranolol use in PHACE syndrome; formulation, target dose, and frequency of propranolol; initiation of propranolol in infants; cardiovascular monitoring; ongoing monitoring; and prevention of hypoglycemia. Where there was considerable controversy, the more conservative approach was selected. We acknowledge that the recommendations are conservative in

Topical brinzolamide (Azopt) versus placebo in the treatment of infantile nystagmus syndrome (INS).

PubMed

Hertle, Richard W; Yang, Dongsheng; Adkinson, Tonia; Reed, Michael

2015-04-01

To test the hypothesis that the topical carbonic anhydrase inhibitor brinzolamide (Azopt) has beneficial effects versus placebo on measures of nystagmus and visual acuity in adult subjects with infantile nystagmus syndrome (INS). Prospective, cross-over, double masked clinical trial. Single centre. Five subjects ≥18 years old with typical INS and best-binocular visual acuity in their primary position null zone ETDRS 55 letters to 85 letters (20/200 to 20/50) and had no previous treatment for nystagmus. In a randomised order, each subject received one drop of Azopt or placebo in both eyes three times a day separated by a washout period of at least a week followed by Azopt or placebo in both eyes three times a day; thus each subject got the drug and placebo, each acting as his or her own control. The nystagmus acuity function and INS waveforms obtained from eye movement recordings, binocular optotype visual acuity, using the ETDRS protocol analysed individually and as a group before and after Azopt and placebo. Versus placebo and baseline measures, topical Azopt significantly improved; INS waveform characteristics in the primary position null zone, group mean values of the nystagmus acuity function across gaze (p<0.01) and group mean ETDRS binocular letter visual acuity (p<0.05). There was a predictable decrease in intraocular pressure (IOP) without any systemic or ocular adverse events. Although a prospective large-scale clinical trial is needed to prove effectiveness, an eye-drop-based therapy for INS may emerge as a viable addition to optical, surgical, behavioural and systemic drug therapies for INS. NCT01312402. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Initiation and use of propranolol for infantile hemangioma: report of a consensus conference.

PubMed

Drolet, Beth A; Frommelt, Peter C; Chamlin, Sarah L; Haggstrom, Anita; Bauman, Nancy M; Chiu, Yvonne E; Chun, Robert H; Garzon, Maria C; Holland, Kristen E; Liberman, Leonardo; MacLellan-Tobert, Susan; Mancini, Anthony J; Metry, Denise; Puttgen, Katherine B; Seefeldt, Marcia; Sidbury, Robert; Ward, Kendra M; Blei, Francine; Baselga, Eulalia; Cassidy, Laura; Darrow, David H; Joachim, Shawna; Kwon, Eun-Kyung M; Martin, Kari; Perkins, Jonathan; Siegel, Dawn H; Boucek, Robert J; Frieden, Ilona J

2013-01-01

Infantile hemangiomas (IHs) are common neoplasms composed of proliferating endothelial-like cells. Despite the relative frequency of IH and the potential severity of complications, there are currently no uniform guidelines for treatment. Although propranolol has rapidly been adopted, there is significant uncertainty and divergence of opinion regarding safety monitoring, dose escalation, and its use in PHACE syndrome (PHACE = posterior fossa, hemangioma, arterial lesions, cardiac abnormalities, eye abnormalities; a cutaneous neurovascular syndrome characterized by large, segmental hemangiomas of the head and neck along with congenital anomalies of the brain, heart, eyes and/or chest wall). A consensus conference was held on December 9, 2011. The multidisciplinary team reviewed existing data on the pharmacologic properties of propranolol and all published reports pertaining to the use of propranolol in pediatric patients. Workgroups were assigned specific topics to propose protocols on the following subjects: contraindications, special populations, pretreatment evaluation, dose escalation, and monitoring. Consensus protocols were recorded during the meeting and refined after the meeting. When appropriate, protocol clarifications and revision were made and agreed upon by the group via teleconference. Because of the absence of high-quality clinical research data, evidence-based recommendations are not possible at present. However, the team agreed on a number of recommendations that arose from a review of existing evidence, including when to treat complicated IH; contraindications and pretreatment evaluation protocols; propranolol use in PHACE syndrome; formulation, target dose, and frequency of propranolol; initiation of propranolol in infants; cardiovascular monitoring; ongoing monitoring; and prevention of hypoglycemia. Where there was considerable controversy, the more conservative approach was selected. We acknowledge that the recommendations are conservative in

Spinal cord normalization in multiple sclerosis.

PubMed

Oh, Jiwon; Seigo, Michaela; Saidha, Shiv; Sotirchos, Elias; Zackowski, Kathy; Chen, Min; Prince, Jerry; Diener-West, Marie; Calabresi, Peter A; Reich, Daniel S

2014-01-01

Spinal cord (SC) pathology is common in multiple sclerosis (MS), and measures of SC-atrophy are increasingly utilized. Normalization reduces biological variation of structural measurements unrelated to disease, but optimal parameters for SC volume (SCV)-normalization remain unclear. Using a variety of normalization factors and clinical measures, we assessed the effect of SCV normalization on detecting group differences and clarifying clinical-radiological correlations in MS. 3T cervical SC-MRI was performed in 133 MS cases and 11 healthy controls (HC). Clinical assessment included expanded disability status scale (EDSS), MS functional composite (MSFC), quantitative hip-flexion strength ("strength"), and vibration sensation threshold ("vibration"). SCV between C3 and C4 was measured and normalized individually by subject height, SC-length, and intracranial volume (ICV). There were group differences in raw-SCV and after normalization by height and length (MS vs. HC; progressive vs. relapsing MS-subtypes, P < .05). There were correlations between clinical measures and raw-SCV (EDSS:r = -.20; MSFC:r = .16; strength:r = .35; vibration:r = -.19). Correlations consistently strengthened with normalization by length (EDSS:r = -.43; MSFC:r = .33; strength:r = .38; vibration:r = -.40), and height (EDSS:r = -.26; MSFC:r = .28; strength:r = .22; vibration:r = -.29), but diminished with normalization by ICV (EDSS:r = -.23; MSFC:r = -.10; strength:r = .23; vibration:r = -.35). In relapsing MS, normalization by length allowed statistical detection of correlations that were not apparent with raw-SCV. SCV-normalization by length improves the ability to detect group differences, strengthens clinical-radiological correlations, and is particularly relevant in settings of subtle disease-related SC-atrophy in MS. SCV-normalization by length may enhance the clinical utility of measures of SC-atrophy. Copyright © 2014 by the American Society of Neuroimaging.

Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state.

PubMed

Matsuoka, Takashi; Miwa, Yoshiyuki; Tajika, Makiko; Sawada, Madoka; Fujimaki, Koichiro; Soga, Takashi; Tomita, Hideshi; Uemura, Shigeru; Nishino, Ichizo; Fukuda, Tokiko; Sugie, Hideo; Kosuga, Motomichi; Okuyama, Torayuki; Umeda, Yoh

2016-12-01

Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectancy of patients with IOPD. However, the efficacy of ERT in patients with IOPD is affected by the presence of symptoms and cross-reactive immunologic material (CRIM) status. We have treated two siblings with IOPD with ERT at different ages: the first was symptomatic and the second was asymptomatic. The female proband (Patient 1) was diagnosed with IOPD and initiated ERT at 4 months of age. Her younger sister (Patient 2) was diagnosed with IOPD at 10 days of age and initiated ERT at Day 12. Patient 1, now 6 years old, is alive but bedridden, and requires 24-hour invasive ventilation due to gradually progressive muscle weakness. In Patient 2, typical symptoms of IOPD, including cardiac failure, respiratory distress, progressive muscle weakness, hepatomegaly and myopathic facial features were largely absent during the first 12 months of ERT. Her cardiac function and mobility were well-maintained for the first 3 years, and she had normal motor development. However, she developed progressive hearing impairment and muscle weakness after 3 years of ERT. Both siblings have had low anti-rhGAA immunoglobulin G (IgG) antibody titers during ERT and have tolerated the treatment well. These results suggest that initiation of ERT during the pre-symptomatic period can prevent and/or attenuate the progression of IOPD, including cardiomyopathy, respiratory distress, and muscle weakness for first several years of ERT. However, to improve the long-term efficacy of ERT for IOPD, new strategies

Normal Stress or Adjustment Disorder?

MedlinePlus

... Lifestyle Stress management What's the difference between normal stress and an adjustment disorder? Answers from Daniel K. Hall-Flavin, M.D. Stress is a normal psychological and physical reaction to ...

Psychiatric disorders in individuals diagnosed with infantile autism as children: a case control study.

PubMed

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

2008-01-01

The objective of this study was to compare the prevalence and types of psychiatric disorders in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with psychiatric disorders in 336 matched controls from the general population using data from the nationwide Danish Psychiatric Central Register. The average observation time was 32.5 years, and mean age at follow-up was 40.6 years (range 25-55 years). Of the 118 individuals with IA, 57 (48.3%) had been in contact with psychiatric hospitals (inpatient hospitalization or outpatient visits) during the follow-up period, compared with 20/336 (6.0%) in the control group (p < 0.0001). This observation should alert general psychiatrists to the possibility of additional treatable psychiatric disorders occurring in individuals with IA. Of the 118 individuals in the IA group, 20 individuals (17%) had been given a comorbid psychiatric diagnosis during the observation period, compared with 9 individuals (2.7%) in the control group. Of the subjects with IA, 3.4% had received a diagnosis of schizophrenia (F20) at least once since the index admission in childhood, 0.8% had been diagnosed with delusional disorder (F22), 0.8% with acute psychotic disorder (F23), and 1.6% with unspecified non-organic psychosis (F29). In the control group, 0.9% had been diagnosed with schizophrenia (p = 0.08). In the group with IA, 3.4% had received a diagnosis in the broad category of affective disorders compared with 1.2% in the control group (p = 0.21). Issues associated with using registers in the ascertainment of co-occurring psychiatric disorders in IA are discussed.

Understanding a Normal Distribution of Data.

PubMed

Maltenfort, Mitchell G

2015-12-01

Assuming data follow a normal distribution is essential for many common statistical tests. However, what are normal data and when can we assume that a data set follows this distribution? What can be done to analyze non-normal data?

Variable outcome in infantile-onset inflammatory bowel disease in an Asian cohort

PubMed Central

Lee, Way Seah; Ng, Ruey Terng; Chan, Koon-Wing; Lau, Yu-Lung

2016-01-01

AIM Infantile-onset inflammatory bowel disease (IO-IBD) with the onset of disease before 12 mo of age, is a different disease entity from childhood IBD. We aimed to describe the clinical features, outcome and role of mutation in interleukin-10 (IL-10) and interleukin-10 receptors (IL-10R) in Asian children with IO-IBD. METHODS All cases of IO-IBD, defined as onset of disease before 12 mo of age, seen at University Malaya Medical Center, Malaysia were reviewed. We performed mutational analysis for IL10 and IL10R genes in patients with presenting clinical features of Crohn’s disease (CD). RESULTS Six [13%; CD = 3, ulcerative colitis (UC) = 2, IBD-unclassified (IBD-U) = 1] of the 48 children (CD = 25; UC = 23) with IBD have IO-IBD. At final review [median (range) duration of follow-up: 6.5 (3.0-20) years], three patients were in remission without immunosuppression [one each for post-colostomy (IBD-U), after standard immunosuppression (CD), and after total colectomy (UC)]. Three patients were on immunosuppression: one (UC) was in remission while two (both CD) had persistent disease. As compared with later-onset disease, IO-IBD were more likely to present with bloody diarrhea (100% vs 55%, P = 0.039) but were similar in terms of an associated autoimmune liver disease (0% vs 19%, P = 0.31), requiring biologics therapy (50% vs 36%, P = 0.40), surgery (50% vs 29%, P = 0.27), or achieving remission (50% vs 64%, P = 0.40). No mutations in either IL10 or IL10R in the three patients with CD and the only patient with IBD-U were identified. CONCLUSION The clinical features of IO-IBD in this Asian cohort of children who were negative for IL-10 or IL-10R mutations were variable. As compared to childhood IBD with onset of disease after 12 mo of age, IO-IBD achieved remission at a similar rate. PMID:28082818

Variable outcome in infantile-onset inflammatory bowel disease in an Asian cohort.

PubMed

Lee, Way Seah; Ng, Ruey Terng; Chan, Koon-Wing; Lau, Yu-Lung

2016-12-28

Infantile-onset inflammatory bowel disease (IO-IBD) with the onset of disease before 12 mo of age, is a different disease entity from childhood IBD. We aimed to describe the clinical features, outcome and role of mutation in interleukin-10 (IL-10) and interleukin-10 receptors (IL-10R) in Asian children with IO-IBD. All cases of IO-IBD, defined as onset of disease before 12 mo of age, seen at University Malaya Medical Center, Malaysia were reviewed. We performed mutational analysis for IL10 and IL10R genes in patients with presenting clinical features of Crohn's disease (CD). Six [13%; CD = 3, ulcerative colitis (UC) = 2, IBD-unclassified (IBD-U) = 1] of the 48 children (CD = 25; UC = 23) with IBD have IO-IBD. At final review [median (range) duration of follow-up: 6.5 (3.0-20) years], three patients were in remission without immunosuppression [one each for post-colostomy (IBD-U), after standard immunosuppression (CD), and after total colectomy (UC)]. Three patients were on immunosuppression: one (UC) was in remission while two (both CD) had persistent disease. As compared with later-onset disease, IO-IBD were more likely to present with bloody diarrhea (100% vs 55%, P = 0.039) but were similar in terms of an associated autoimmune liver disease (0% vs 19%, P = 0.31), requiring biologics therapy (50% vs 36%, P = 0.40), surgery (50% vs 29%, P = 0.27), or achieving remission (50% vs 64%, P = 0.40). No mutations in either IL10 or IL10R in the three patients with CD and the only patient with IBD-U were identified. The clinical features of IO-IBD in this Asian cohort of children who were negative for IL-10 or IL-10R mutations were variable. As compared to childhood IBD with onset of disease after 12 mo of age, IO-IBD achieved remission at a similar rate.

Cell proliferation in normal epidermis

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

Weinstein, G.D.; McCullough, J.L.; Ross, P.

1984-06-01

A detailed examination of cell proliferation kinetics in normal human epidermis is presented. Using tritiated thymidine with autoradiographic techniques, proliferative and differentiated cell kinetics are defined and interrelated. The proliferative compartment of normal epidermis has a cell cycle duration (Tc) of 311 h derived from 3 components: the germinative labeling index (LI), the duration of DNA synthesis (ts), and the growth fraction (GF). The germinative LI is 2.7% +/- 1.2 and ts is 14 h, the latter obtained from a composite fraction of labeled mitoses curve obtained from 11 normal subjects. The GF obtained from the literature and from humanmore » skin xenografts to nude mice is estimated to be 60%. Normal-appearing epidermis from patients with psoriasis appears to have a higher proliferation rate. The mean LI is 4.2% +/- 0.9, approximately 50% greater than in normal epidermis. Absolute cell kinetic values for this tissue, however, cannot yet be calculated for lack of other information on ts and GF. A kinetic model for epidermal cell renewal in normal epidermis is described that interrelates the rate of birth/entry, transit, and/or loss of keratinocytes in the 3 epidermal compartments: proliferative, viable differentiated (stratum malpighii), and stratum corneum. Expected kinetic homeostasis in the epidermis is confirmed by the very similar ''turnover'' rates in each of the compartments that are, respectively, 1246, 1417, and 1490 cells/day/mm2 surface area. The mean epidermal turnover time of the entire tissue is 39 days. The Tc of 311 h in normal cells in 8-fold longer than the psoriatic Tc of 36 h and is necessary for understanding the hyperproliferative pathophysiologic process in psoriasis.« less

Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus.

PubMed

Joyce, Emily; Ho, Jacqueline; El-Gharbawy, Areeg; Salgado, Cláudia M; Ranganathan, Sarangarajan; Reyes-Múgica, Miguel

2017-01-01

Cystinosis is the most common cause of inherited renal Fanconi syndrome in young children, and typically presents with laboratory findings of a proximal tubulopathy and corneal crystals by one year of age. We describe here renal biopsy findings in a 20-month-old patient with an atypical presentation of distal renal tubular acidosis, diabetes insipidus, and the absence of corneal crystals. Although renal biopsy is usually not necessary to establish the diagnosis of cystinosis, when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable. A 20-month-old boy presented with failure to thrive, polyuria, polydipsia, and rickets. He initially showed evidence of a renal tubular acidosis, mild renal insufficiency, and nephrogenic diabetes insipidus. His initial ophthalmologic examination did not demonstrate corneal crystals. His subsequent workup revealed phosphaturia, suggesting a partial proximal tubulopathy. Concomitantly, a renal biopsy revealed prominent podocytes with an immature glomerular appearance, and electron microscopy analysis showed numerous intracellular crystals within tubular epithelial cells. Subsequent laboratory and genetic testing confirmed a diagnosis of infantile nephropathic cystinosis. This case highlights the variability in the clinical presentation of cystinosis, resulting in an uncommon clinical picture of a rare disease. Given that treatment is available to prolong renal function and minimize the extra-renal manifestations of this disorder, early diagnosis is essential. It is important to raise the index of suspicion of cystinosis by recognizing its subtle morphological changes in young patients, and that nephrogenic diabetes insipidus can be secondary to this disorder.

Normal Weight Obesity: A Hidden Health Risk?

MedlinePlus

Normal weight obesity: A hidden health risk? Can you be considered obese if you have a normal body weight? Answers from ... considered obese — a condition known as normal weight obesity. Normal weight obesity means you may have the ...

CT of Normal Developmental and Variant Anatomy of the Pediatric Skull: Distinguishing Trauma from Normality.

PubMed

Idriz, Sanjin; Patel, Jaymin H; Ameli Renani, Seyed; Allan, Rosemary; Vlahos, Ioannis

2015-01-01

The use of computed tomography (CT) in clinical practice has been increasing rapidly, with the number of CT examinations performed in adults and children rising by 10% per year in England. Because the radiology community strives to reduce the radiation dose associated with pediatric examinations, external factors, including guidelines for pediatric head injury, are raising expectations for use of cranial CT in the pediatric population. Thus, radiologists are increasingly likely to encounter pediatric head CT examinations in daily practice. The variable appearance of cranial sutures at different ages can be confusing for inexperienced readers of radiologic images. The evolution of multidetector CT with thin-section acquisition increases the clarity of some of these sutures, which may be misinterpreted as fractures. Familiarity with the normal anatomy of the pediatric skull, how it changes with age, and normal variants can assist in translating the increased resolution of multidetector CT into more accurate detection of fractures and confident determination of normality, thereby reducing prolonged hospitalization of children with normal developmental structures that have been misinterpreted as fractures. More important, the potential morbidity and mortality related to false-negative interpretation of fractures as normal sutures may be avoided. The authors describe the normal anatomy of all standard pediatric sutures, common variants, and sutural mimics, thereby providing an accurate and safe framework for CT evaluation of skull trauma in pediatric patients. (©)RSNA, 2015.

[Differential diagnosis of chronic myeloic leucemia in infancy (author's transl)].

PubMed

Binder, C; Pichler, E; Radaskiewicz, T; Scheibenreiter, S

1976-01-01

A 3 months old girl presented with significant enlargement of liver, spleen and lymphnodes, with moderate anemia, thrombopenia and leucocytosis. In the differential count there was a shift to the left and an increase of monocyte-like cells (35%). Differential diagnosis included leucemoid reaction, infectious mononucleosis, myelo-proliferative disorder with a missing C chromosome and chronic myeloid leucemia. Clinical symptoms, cytochemistry and caryotype of bone marrow cells suggested infantile chronic myeloic leucemia and normal ALP index and possibly normal HbF. Treatment with 6-mercaptopurine was followed by partial remission. The therapeutic consequences of exact differential diagnosis are discussed.

Comprehensive non-dimensional normalization of gait data.

PubMed

Pinzone, Ornella; Schwartz, Michael H; Baker, Richard

2016-02-01

Normalizing clinical gait analysis data is required to remove variability due to physical characteristics such as leg length and weight. This is particularly important for children where both are associated with age. In most clinical centres conventional normalization (by mass only) is used whereas there is a stronger biomechanical argument for non-dimensional normalization. This study used data from 82 typically developing children to compare how the two schemes performed over a wide range of temporal-spatial and kinetic parameters by calculating the coefficients of determination with leg length, weight and height. 81% of the conventionally normalized parameters had a coefficient of determination above the threshold for a statistical association (p<0.05) compared to 23% of those normalized non-dimensionally. All the conventionally normalized parameters exceeding this threshold showed a reduced association with non-dimensional normalization. In conclusion, non-dimensional normalization is more effective that conventional normalization in reducing the effects of height, weight and age in a comprehensive range of temporal-spatial and kinetic parameters. Copyright © 2015 Elsevier B.V. All rights reserved.

Normal probability plots with confidence.

PubMed

Chantarangsi, Wanpen; Liu, Wei; Bretz, Frank; Kiatsupaibul, Seksan; Hayter, Anthony J; Wan, Fang

2015-01-01

Normal probability plots are widely used as a statistical tool for assessing whether an observed simple random sample is drawn from a normally distributed population. The users, however, have to judge subjectively, if no objective rule is provided, whether the plotted points fall close to a straight line. In this paper, we focus on how a normal probability plot can be augmented by intervals for all the points so that, if the population distribution is normal, then all the points should fall into the corresponding intervals simultaneously with probability 1-α. These simultaneous 1-α probability intervals provide therefore an objective mean to judge whether the plotted points fall close to the straight line: the plotted points fall close to the straight line if and only if all the points fall into the corresponding intervals. The powers of several normal probability plot based (graphical) tests and the most popular nongraphical Anderson-Darling and Shapiro-Wilk tests are compared by simulation. Based on this comparison, recommendations are given in Section 3 on which graphical tests should be used in what circumstances. An example is provided to illustrate the methods. © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Rock friction under variable normal stress

USGS Publications Warehouse

Kilgore, Brian D.; Beeler, Nicholas M.; Lozos, Julian C.; Oglesby, David

2017-01-01

This study is to determine the detailed response of shear strength and other fault properties to changes in normal stress at room temperature using dry initially bare rock surfaces of granite at normal stresses between 5 and 7 MPa. Rapid normal stress changes result in gradual, approximately exponential changes in shear resistance with fault slip. The characteristic length of the exponential change is similar for both increases and decreases in normal stress. In contrast, changes in fault normal displacement and the amplitude of small high-frequency elastic waves transmitted across the surface follow a two stage response consisting of a large immediate and a smaller gradual response with slip. The characteristic slip distance of the small gradual response is significantly smaller than that of shear resistance. The stability of sliding in response to large step decreases in normal stress is well predicted using the shear resistance slip length observed in step increases. Analysis of the shear resistance and slip-time histories suggest nearly immediate changes in strength occur in response to rapid changes in normal stress; these are manifested as an immediate change in slip speed. These changes in slip speed can be qualitatively accounted for using a rate-independent strength model. Collectively, the observations and model show that acceleration or deceleration in response to normal stress change depends on the size of the change, the frictional characteristics of the fault surface, and the elastic properties of the loading system.

Evaluation of the ASOS impact on climatic normals and assessment of variable-length time periods in calculation of normals

NASA Astrophysics Data System (ADS)

Kauffman, Chad Matthew

The temperature and precipitation that describe the norm of daily, monthly, and seasonal climate conditions are ``climate normals.'' They are usually calculated based on climate data covering a 30-year period, and updated in every 10 years. The next update will take place in year 2001. Because of the advent of the Automated Surface Observations Systems (ASOS) beginning in early 1990s and recognized temperature bias between ASOS and the conventional temperature sensors there is an uncertainty of how the ASOS data should be used to calculate the 1971-2000 temperature normal. This study examined the uncertainty and offered a method to minimize it. It showed that the ASOS bias has a measurable impact on the new 30-year temperature normal. The impact varies among stations and climate regions. Some stations with a cooling trend in ASOS temperature have a cooler normal for their temperature, while others with a warming trend have a warmer normal for temperature. These quantitative evaluations of ASOS effect for stations and regions can be used to reduce ASOS bias in temperature normals. This study also evaluated temperature normals for different length periods and compared them to the 30-year normal. It showed that the difference between the normals, is smaller in maritime climate than in continental temperate climate. In the former, the six- year normal describes a similar temperature variation as the 30-year normal does. In the latter, the 18-year normal starts to resemble the temperature variation that the 30-year normal describes. These results provide a theoretical basis for applying different normals in different regions. The study further compared temperature normal for different periods and identified a seasonal shift in climate change in the southwestern U.S. where the summer maximum temperature has shifted to a late summer month and the winter minimum temperature shifted to an early winter month in the past 30 years.

A Statistical Selection Strategy for Normalization Procedures in LC-MS Proteomics Experiments through Dataset Dependent Ranking of Normalization Scaling Factors

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

Webb-Robertson, Bobbie-Jo M.; Matzke, Melissa M.; Jacobs, Jon M.

2011-12-01

Quantification of LC-MS peak intensities assigned during peptide identification in a typical comparative proteomics experiment will deviate from run-to-run of the instrument due to both technical and biological variation. Thus, normalization of peak intensities across a LC-MS proteomics dataset is a fundamental step in pre-processing. However, the downstream analysis of LC-MS proteomics data can be dramatically affected by the normalization method selected . Current normalization procedures for LC-MS proteomics data are presented in the context of normalization values derived from subsets of the full collection of identified peptides. The distribution of these normalization values is unknown a priori. If theymore » are not independent from the biological factors associated with the experiment the normalization process can introduce bias into the data, which will affect downstream statistical biomarker discovery. We present a novel approach to evaluate normalization strategies, where a normalization strategy includes the peptide selection component associated with the derivation of normalization values. Our approach evaluates the effect of normalization on the between-group variance structure in order to identify candidate normalization strategies that improve the structure of the data without introducing bias into the normalized peak intensities.« less

Quaternion normalization in spacecraft attitude determination

NASA Technical Reports Server (NTRS)

Deutschmann, Julie; Bar-Itzhack, Itzhack; Galal, Ken

1992-01-01

Methods are presented to normalize the attitude quaternion in two extended Kalman filters (EKF), namely, the multiplicative EKF (MEKF) and the additive EKF (AEKF). It is concluded that all the normalization methods work well and yield comparable results. In the AEKF, normalization is not essential, since the data chosen for the test do not have a rapidly varying attitude. In the MEKF, normalization is necessary to avoid divergence of the attitude estimate. All of the methods of the methods behave similarly when the spacecraft experiences low angular rates.

A well-known lesion in an unusual location: infantile myofibroma of the eyelid: a case report and review of literature.

PubMed

Asadi Amoli, Fahimeh; Sina, Amir Hossein; Kasai, Aboulfazl; Ayan, Zahra

2010-01-01

Myofibroma is a neoplasia of myofibroblasts that can be solitary or multiple and it is found most commonly in the head & neck region including scalp, forehead, parotid region and oral cavity. In the eyelid it is rarely reported. It has a benign course in the solitary form and fatal in its multiple form. A 4 month male infant referred to Farabi hospital -the referral center for eye diseases- with a 2 month history of a mass in his eyelid with gradual enlargement with no other complaints. The only abnormal physical finding was a 2.5 cm mass in the eyelid. This mass was excised and sent to the hospital pathology laboratory. When confronting a spindle cell lesion with a nodular or multinodular growth pattern which appears biphasic due to alteration of light and dark staining areas, the surgical pathologist should think to the possibility of myofibroma. Its pattern of growth and architecture rules out the other differential diagnoses like nodular fasciitis, fibrous histiocytoma, infantile fibromatosis, and peripheral primitive neuroectodermal tumor, mesenchymal chondrosarcoma, malignant hemangiopericytoma, juvenile fibrosarcoma and poorly differentiated synovial sarcoma. In difficult cases immunohistochemical staining is helpful that is Vimentin & Actin positivity & Desmin, CK, EMA & S100 negativity.

Relating normalization to neuronal populations across cortical areas

PubMed Central

Alberts, Joshua J.; Cohen, Marlene R.

2016-01-01

Normalization, which divisively scales neuronal responses to multiple stimuli, is thought to underlie many sensory, motor, and cognitive processes. In every study where it has been investigated, neurons measured in the same brain area under identical conditions exhibit a range of normalization, ranging from suppression by nonpreferred stimuli (strong normalization) to additive responses to combinations of stimuli (no normalization). Normalization has been hypothesized to arise from interactions between neuronal populations, either in the same or different brain areas, but current models of normalization are not mechanistic and focus on trial-averaged responses. To gain insight into the mechanisms underlying normalization, we examined interactions between neurons that exhibit different degrees of normalization. We recorded from multiple neurons in three cortical areas while rhesus monkeys viewed superimposed drifting gratings. We found that neurons showing strong normalization shared less trial-to-trial variability with other neurons in the same cortical area and more variability with neurons in other cortical areas than did units with weak normalization. Furthermore, the cortical organization of normalization was not random: neurons recorded on nearby electrodes tended to exhibit similar amounts of normalization. Together, our results suggest that normalization reflects a neuron's role in its local network and that modulatory factors like normalization share the topographic organization typical of sensory tuning properties. PMID:27358313

Stem cell transplantation in children with infantile osteopetrosis is associated with a high incidence of VOD, which could be prevented with defibrotide.

PubMed

Corbacioglu, S; Hönig, M; Lahr, G; Stöhr, S; Berry, G; Friedrich, W; Schulz, A S

2006-10-01

Malignant infantile osteopetrosis (MIOP) is a rare hereditary disorder of osteoclast function, which can be reversed by hematopoietic stem cell transplantation (SCT). We observed a high incidence of hepatic veno-occlusive disease (VOD) in transplanted patients and explored the prevention of this complication by using defibrotide (DF) as a prophylaxis. Twenty children with MIOP were consecutively transplanted in our center between 1996 and 2005. Eleven of these patients were transplanted between 1996 and 2001 and experienced an overall incidence of VOD of 63.6% (7/11). VOD was severe in three patients and one patient succumbed to VOD-related multi-organ failure. Owing to this very high incidence of VOD, DF prophylaxis was initiated in nine patients consecutively transplanted between 2001 and 2005. In this group, only one patient (11.1%) was diagnosed with moderate VOD. We report here a very high risk in patients with MIOP to develop VOD after transplantation. Prophylactic DF was implemented in our current transplant protocol and reduced the VOD rate significantly in this high-risk population.

Enzyme Replacement Therapy for Murine Hypophosphatasia*

PubMed Central

Millán, José Luis; Narisawa, Sonoko; Lemire, Isabelle; Loisel, Thomas P; Boileau, Guy; Leonard, Pierre; Gramatikova, Svetlana; Terkeltaub, Robert; Camacho, Nancy Pleshko; McKee, Marc D; Crine, Philippe; Whyte, Michael P

2008-01-01

Introduction Hypophosphatasia (HPP) is the inborn error of metabolism that features rickets or osteomalacia caused by loss-of-function mutation(s) within the gene that encodes the tissue-nonspecific isozyme of alkaline phosphatase (TNALP). Consequently, natural substrates for this ectoenzyme accumulate extracellulary including inorganic pyrophosphate (PPi), an inhibitor of mineralization, and pyridoxal 5`-phosphate (PLP), a co-factor form of vitamin B6. Babies with the infantile form of HPP often die with severe rickets and sometimes hypercalcemia and vitamin B6-dependent seizures. There is no established medical treatment. Materials and Methods Human TNALP was bioengineered with the C terminus extended by the Fc region of human IgG for one-step purification and a deca-aspartate sequence (D10) for targeting to mineralizing tissue (sALP-FcD10). TNALP-null mice (Akp2−/−), an excellent model for infantile HPP, were treated from birth using sALP-FcD10. Short-term and long-term efficacy studies consisted of once daily subcutaneous injections of 1, 2, or 8.2 mg/kg sALP-FcD10 for 15, 19, and 15 or 52 days, respectively. We assessed survival and growth rates, circulating levels of sALP-FcD10 activity, calcium, PPi, and pyridoxal, as well as skeletal and dental manifestations using radiography, μCT, and histomorphometry. Results Akp2−/− mice receiving high-dose sALP-FcD10 grew normally and appeared well without skeletal or dental disease or epilepsy. Plasma calcium, PPi, and pyridoxal concentrations remained in their normal ranges. We found no evidence of significant skeletal or dental disease. Conclusions Enzyme replacement using a bone-targeted, recombinant form of human TNALP prevents infantile HPP in Akp2−/− mice. PMID:18086009

Relating normalization to neuronal populations across cortical areas.

PubMed

Ruff, Douglas A; Alberts, Joshua J; Cohen, Marlene R

2016-09-01

Normalization, which divisively scales neuronal responses to multiple stimuli, is thought to underlie many sensory, motor, and cognitive processes. In every study where it has been investigated, neurons measured in the same brain area under identical conditions exhibit a range of normalization, ranging from suppression by nonpreferred stimuli (strong normalization) to additive responses to combinations of stimuli (no normalization). Normalization has been hypothesized to arise from interactions between neuronal populations, either in the same or different brain areas, but current models of normalization are not mechanistic and focus on trial-averaged responses. To gain insight into the mechanisms underlying normalization, we examined interactions between neurons that exhibit different degrees of normalization. We recorded from multiple neurons in three cortical areas while rhesus monkeys viewed superimposed drifting gratings. We found that neurons showing strong normalization shared less trial-to-trial variability with other neurons in the same cortical area and more variability with neurons in other cortical areas than did units with weak normalization. Furthermore, the cortical organization of normalization was not random: neurons recorded on nearby electrodes tended to exhibit similar amounts of normalization. Together, our results suggest that normalization reflects a neuron's role in its local network and that modulatory factors like normalization share the topographic organization typical of sensory tuning properties. Copyright © 2016 the American Physiological Society.

Infantile Basal Ganglia Stroke after Mild Head Trauma Associated with Mineralizing Angiopathy of Lenticulostriate Arteries: An Under Recognized Entity.

PubMed

Toelle, Sandra P; Avetisyan, Tamara; Kuyumjyan, Nune; Sukhudyan, Biayna; Boltshauser, Eugen; Hackenberg, Annette

2018-05-23

Basal ganglia infarction in young children, mostly after mild head trauma, has been repeatedly reported. The pathogenesis and the risk factors are not fully understood. Lenticulostriate vasculopathy, usually referred to as basal ganglia calcification, is discussed as one of them. We describe five young (7-13 months old on presentation) male children who suffered from hemiparesis due to ischemic stroke of the basal ganglia, four of them after minor head trauma. All of them had calcification in the basal ganglia visible on computed tomography or cranial ultrasound but not on magnetic resonance imaging. Follow-up care was remarkable for recurrent infarction in three patients. One patient had a second symptomatic stroke on the contralateral side, and two patients showed new asymptomatic infarctions in the contralateral basal ganglia on imaging. In view of the scant literature, this clinic-radiologic entity seems under recognized. We review the published cases and hypothesize that male sex and iron deficiency anemia are risk factors for basal ganglia stroke after minor trauma in the context of basal ganglia calcification in infants. We suggest to perform appropriate targeted neuroimaging in case of infantile basal ganglia stroke, and to consider prophylactic medical treatment, although its value in this context is not proven. Georg Thieme Verlag KG Stuttgart · New York.

Normal evaporation of binary alloys

NASA Technical Reports Server (NTRS)

Li, C. H.

1972-01-01

In the study of normal evaporation, it is assumed that the evaporating alloy is homogeneous, that the vapor is instantly removed, and that the alloy follows Raoult's law. The differential equation of normal evaporation relating the evaporating time to the final solute concentration is given and solved for several important special cases. Uses of the derived equations are exemplified with a Ni-Al alloy and some binary iron alloys. The accuracy of the predicted results are checked by analyses of actual experimental data on Fe-Ni and Ni-Cr alloys evaporated at 1600 C, and also on the vacuum purification of beryllium. These analyses suggest that the normal evaporation equations presented here give satisfactory results that are accurate to within an order of magnitude of the correct values, even for some highly concentrated solutions. Limited diffusion and the resultant surface solute depletion or enrichment appear important in the extension of this normal evaporation approach.

Fluid involvement in normal faulting

NASA Astrophysics Data System (ADS)

Sibson, Richard H.

2000-04-01

Evidence of fluid interaction with normal faults comes from their varied role as flow barriers or conduits in hydrocarbon basins and as hosting structures for hydrothermal mineralisation, and from fault-rock assemblages in exhumed footwalls of steep active normal faults and metamorphic core complexes. These last suggest involvement of predominantly aqueous fluids over a broad depth range, with implications for fault shear resistance and the mechanics of normal fault reactivation. A general downwards progression in fault rock assemblages (high-level breccia-gouge (often clay-rich) → cataclasites → phyllonites → mylonite → mylonitic gneiss with the onset of greenschist phyllonites occurring near the base of the seismogenic crust) is inferred for normal fault zones developed in quartzo-feldspathic continental crust. Fluid inclusion studies in hydrothermal veining from some footwall assemblages suggest a transition from hydrostatic to suprahydrostatic fluid pressures over the depth range 3-5 km, with some evidence for near-lithostatic to hydrostatic pressure cycling towards the base of the seismogenic zone in the phyllonitic assemblages. Development of fault-fracture meshes through mixed-mode brittle failure in rock-masses with strong competence layering is promoted by low effective stress in the absence of thoroughgoing cohesionless faults that are favourably oriented for reactivation. Meshes may develop around normal faults in the near-surface under hydrostatic fluid pressures to depths determined by rock tensile strength, and at greater depths in overpressured portions of normal fault zones and at stress heterogeneities, especially dilational jogs. Overpressures localised within developing normal fault zones also determine the extent to which they may reutilise existing discontinuities (for example, low-angle thrust faults). Brittle failure mode plots demonstrate that reactivation of existing low-angle faults under vertical σ1 trajectories is only likely if

The Normal Fetal Pancreas.

PubMed

Kivilevitch, Zvi; Achiron, Reuven; Perlman, Sharon; Gilboa, Yinon

2017-10-01

The aim of the study was to assess the sonographic feasibility of measuring the fetal pancreas and its normal development throughout pregnancy. We conducted a cross-sectional prospective study between 19 and 36 weeks' gestation. The study included singleton pregnancies with normal pregnancy follow-up. The pancreas circumference was measured. The first 90 cases were tested to assess feasibility. Two hundred ninety-seven fetuses of nondiabetic mothers were recruited during a 3-year period. The overall satisfactory visualization rate was 61.6%. The intraobserver and interobserver variability had high interclass correlation coefficients of of 0.964 and 0.967, respectively. A cubic polynomial regression described best the correlation of pancreas circumference with gestational age (r = 0.744; P < .001) and significant correlations also with abdominal circumference and estimated fetal weight (Pearson r = 0.829 and 0.812, respectively; P < .001). Modeled pancreas circumference percentiles for each week of gestation were calculated. During the study period, we detected 2 cases with overgrowth syndrome and 1 case with an annular pancreas. In this study, we assessed the feasibility of sonography for measuring the fetal pancreas and established a normal reference range for the fetal pancreas circumference throughout pregnancy. This database can be helpful when investigating fetomaternal disorders that can involve its normal development. © 2017 by the American Institute of Ultrasound in Medicine.

Normal pressure hydrocephalus

MedlinePlus

Ferri FF. Normal pressure hydrocephalus. In: Ferri FF, ed. Ferri's Clinical Advisor 2016 . Philadelphia, PA: Elsevier; 2016:chap 648. Rosenberg GA. Brain edema and disorders of cerebrospinal fluid circulation. ...

Inheritance of Properties of Normal and Non-Normal Distributions after Transformation of Scores to Ranks

ERIC Educational Resources Information Center

Zimmerman, Donald W.

2011-01-01

This study investigated how population parameters representing heterogeneity of variance, skewness, kurtosis, bimodality, and outlier-proneness, drawn from normal and eleven non-normal distributions, also characterized the ranks corresponding to independent samples of scores. When the parameters of population distributions from which samples were…

Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25).

PubMed

Veltman, Imke M; Vreede, Lilian A; Cheng, Jinke; Looijenga, Leendert H J; Janssen, Bert; Schoenmakers, Eric F P M; Yeh, Edward T H; van Kessel, Ad Geurts

2005-07-15

Recently, we identified a patient with an infantile sacrococcygeal teratoma and a constitutional t(12;15)(q13;q25). Here, we show that, as a result of this chromosomal translocation, the SUMO/Sentrin-specific protease 1 gene (SENP1) on chromosome 12 and the embryonic polarity-related mesoderm development gene (MESDC2) on chromosome 15 are disrupted and fused. Both reciprocal SENP1-MESDC2 (SEME) and MESDC2-SENP1 (MESE) fusion genes are transcribed in tumor-derived cells and their open reading frames encode aberrant proteins. As a consequence of this, and in contrast to wild-type (WT) MESDC2, the translocation-associated SEME protein is no longer targeted to the endoplasmatic reticulum, leading to a presumed loss-of-function as a chaperone for the WNT co-receptors LRP5 and/or LRP6. Ultimately, this might lead to abnormal development and/or routing of germ cell tumor precursor cells. SUMO, a post-translational modifier, plays an important role in several cellular key processes and is cleaved from its substrates by WT SENP1. Using a PML desumoylation assay, we found that translocation-associated MESE proteins exhibit desumoylation capacities similar to those observed for WT SENP1. We speculate that spatio-temporal disturbances in desumoylating activities during critical stages of embryonic development might have predisposed the patient. Together, the constitutional t(12;15)(q13;q25) translocation revealed two novel candidate genes for neonatal/infantile GCT development: MESDC2 and SENP1.

Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents.

PubMed

Wheless, James W; Gibson, Patricia A; Rosbeck, Kari Luther; Hardin, Maria; O'Dell, Christine; Whittemore, Vicky; Pellock, John M

2012-07-25

Infantile spasms (IS; West syndrome) is a severe form of encephalopathy that typically affects infants younger than 2 years old. Pediatricians, pediatric neurologists, and other pediatric health care providers are all potentially key early contacts for families who have an infant with IS. The objective of this article is to assist pediatric health care providers in the detection of the disease and in the counseling and guidance of families who have an infant with IS. Treatment guidelines, consensus reports, and original research studies are reviewed to provide an update regarding the diagnosis and treatment of infants with IS. Web sites were searched for educational and supportive resource content relevant to providers and families of patients with IS. Early detection of IS and pediatrician referral to a pediatric neurologist for further evaluation and initiation of treatment may improve prognosis. Family education and the establishment of a multidisciplinary continuum of care are important components of care for the majority of patients with IS. The focus of the continuum of care varies across diagnosis, initiation of treatment, and short- and long-term needs. Several on-line educational and supportive resources for families and caregivers of patients with IS were identified. Given the possibility of poor developmental outcomes in IS, including the emergence of other seizure disorders and cognitive and developmental problems, early recognition, referral, and treatment of IS are important for optimal patient outcomes. Dissemination of and access to educational and supportive resources for families and caregivers across the lifespan of the child with IS is an urgent need. Pediatric health care providers are well positioned to address these needs.

3j Symbols: To Normalize or Not to Normalize?

ERIC Educational Resources Information Center

van Veenendaal, Michel

2011-01-01

The systematic use of alternative normalization constants for 3j symbols can lead to a more natural expression of quantities, such as vector products and spherical tensor operators. The redefined coupling constants directly equate tensor products to the inner and outer products without any additional square roots. The approach is extended to…

Birth outcomes of male and female patients with infantile hypertrophic pyloric stenosis--a population-based case-control study.

PubMed

Vermes, Gabor; Mátrai, Ákos; Czeizel, Andrew E; Ács, Nándor

2016-01-01

Most of the patients are affected by isolated infantile hypertrophic pyloric stenosis (IHPS) beyond the polygenic predisposition, the other factors in the multifactorial etiology are largely unknown. The main characteristic of IHPS is the robust male predominance, thus the aim of this study was to analyze birth outcomes in males and females whether they are different or not. The study samples included 241 cases with IHPS, 357 matched, and 38,151 population controls without any defect in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996. The findings of this case-control study confirmed the well-known strong male excess (85.5%). The mean gestational age was somewhat longer and it is associated with a lower rate of preterm births. Mean birth weight did not show significant differences among the study groups, but the rate of low birthweight was higher in cases with IHPS. However, these differences were found only in males. Thus, intrauterine fetal growth restriction is characteristic only for male cases with IHPS. Our study confirmed the well-known obvious male excess of cases with IHPS, but our findings suggest some differences in birth outcomes of male and female cases. Male cases with IHPS had intrauterine fetal growth restriction while females did not. These data may indicate some differences in the pathogenesis of IHPS in males and females.

Normal Aging and Linguistic Decrement.

ERIC Educational Resources Information Center

Emery, Olga B.

A study investigated language patterning, as an indication of synthetic mental activity, in comparison groups of normal pre-middle-aged adults (30-42 years), normal elderly adults (75-93), and elderly adults (71-91) with Alzheimer's dementia. Semiotic theory was used as the conceptual context. Linguistic measures included the Token Test, the…

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.

PubMed

Paciorkowski, Alex R; Weisenberg, Judy; Kelley, Joshua B; Spencer, Adam; Tuttle, Emily; Ghoneim, Dalia; Thio, Liu Lin; Christian, Susan L; Dobyns, William B; Paschal, Bryce M

2014-05-01

Nuclear import receptors of the KPNA family recognize the nuclear localization signal in proteins and together with importin-β mediate translocation into the nucleus. Accordingly, KPNA family members have a highly conserved architecture with domains that contact the nuclear localization signal and bind to importin-β. Here, we describe autosomal recessive mutations in KPNA7 found by whole exome sequencing in a sibling pair with severe developmental disability, infantile spasms, subsequent intractable epilepsy consistent with Lennox-Gastaut syndrome, partial agenesis of the corpus callosum, and cerebellar vermis hypoplasia. The mutations mapped to exon 7 in KPNA7 result in two amino-acid substitutions, Pro339Ala and Glu344Gln. On the basis of the crystal structure of the paralog KPNA2 bound to a bipartite nuclear localization signal from the retinoblastoma protein, the amino-acid substitutions in the affected subjects were predicted to occur within the seventh armadillo repeat that forms one of the two nuclear localization signal-binding sites in KPNA family members. Glu344 is conserved in all seven KPNA proteins, and we found that the Glu354Gln mutation in KPNA2 is sufficient to reduce binding to the retinoblastoma nuclear localization signal to approximately one-half that of wild-type protein. Our data show that compound heterozygous mutations in KPNA7 are associated with a human neurodevelopmental disease, and provide the first example of a human disease associated with mutation of a nuclear transport receptor.

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

PubMed Central

Paciorkowski, Alex R; Weisenberg, Judy; Kelley, Joshua B; Spencer, Adam; Tuttle, Emily; Ghoneim, Dalia; Thio, Liu Lin; Christian, Susan L; Dobyns, William B; Paschal, Bryce M

2014-01-01

Nuclear import receptors of the KPNA family recognize the nuclear localization signal in proteins and together with importin-β mediate translocation into the nucleus. Accordingly, KPNA family members have a highly conserved architecture with domains that contact the nuclear localization signal and bind to importin-β. Here, we describe autosomal recessive mutations in KPNA7 found by whole exome sequencing in a sibling pair with severe developmental disability, infantile spasms, subsequent intractable epilepsy consistent with Lennox–Gastaut syndrome, partial agenesis of the corpus callosum, and cerebellar vermis hypoplasia. The mutations mapped to exon 7 in KPNA7 result in two amino-acid substitutions, Pro339Ala and Glu344Gln. On the basis of the crystal structure of the paralog KPNA2 bound to a bipartite nuclear localization signal from the retinoblastoma protein, the amino-acid substitutions in the affected subjects were predicted to occur within the seventh armadillo repeat that forms one of the two nuclear localization signal-binding sites in KPNA family members. Glu344 is conserved in all seven KPNA proteins, and we found that the Glu354Gln mutation in KPNA2 is sufficient to reduce binding to the retinoblastoma nuclear localization signal to approximately one-half that of wild-type protein. Our data show that compound heterozygous mutations in KPNA7 are associated with a human neurodevelopmental disease, and provide the first example of a human disease associated with mutation of a nuclear transport receptor. PMID:24045845

Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.

PubMed

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

2008-05-01

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 movement recordings of 90 subjects with mutation in the gene (FRMD7 group) to 48 subjects without mutations but with clinical IIN (non-FRMD7 group). Fifty-eight female obligate carriers of the mutation were also investigated. The median visual acuity (VA) was 0.2 logMAR (Snellen equivalent 6/9) in both groups and most patients had good stereopsis. The prevalence of strabismus was also similar (FRMD7: 7.8%, non-FRMD7: 10%). The presence of anomalous head posture (AHP) was significantly higher in the non-FRMD7 group (P < 0.0001). The amplitude of nystagmus was more strongly dependent on the direction of gaze in the FRMD7 group being lower at primary position (P < 0.0001), compared to non-FRMD7 group (P = 0.83). Pendular nystagmus waveforms were also more frequent in the FRMD7 group (P = 0.003). Fifty-three percent of the obligate female carriers of an FRMD7 mutation were clinically affected. The VA's in affected females were slightly better compared to affected males (P = 0.014). Subnormal optokinetic responses were found in a subgroup of obligate unaffected carriers, which may be interpreted as a sub-clinical manifestation. FRMD7 is a major cause of X-linked IIN. Most clinical and eye movement characteristics were similar in the FRMD7 group and non-FRMD7 group with most patients having good VA and stereopsis and low incidence of strabismus. Fewer patients in the FRMD7 group had AHPs, their amplitude of nystagmus being lower in primary position. Our findings are helpful in the clinical identification of IIN and genetic counselling of nystagmus patients.

Quantiles for Finite Mixtures of Normal Distributions

ERIC Educational Resources Information Center

Rahman, Mezbahur; Rahman, Rumanur; Pearson, Larry M.

2006-01-01

Quantiles for finite mixtures of normal distributions are computed. The difference between a linear combination of independent normal random variables and a linear combination of independent normal densities is emphasized. (Contains 3 tables and 1 figure.)

Metabolic Cost, Mechanical Work, and Efficiency during Normal Walking in Obese and Normal-Weight Children

ERIC Educational Resources Information Center

Huang, Liang; Chen, Peijie; Zhuang, Jie; Zhang, Yanxin; Walt, Sharon

2013-01-01

Purpose: This study aimed to investigate the influence of childhood obesity on energetic cost during normal walking and to determine if obese children choose a walking strategy optimizing their gait pattern. Method: Sixteen obese children with no functional abnormalities were matched by age and gender with 16 normal-weight children. All…

Normalizing Catastrophe: An Educational Response

ERIC Educational Resources Information Center

Jickling, Bob

2013-01-01

Processes of normalizing assumptions and values have been the subjects of theoretical framing and critique for several decades now. Critique has often been tied to issues of environmental sustainability and social justice. Now, in an era of global warming, there is a rising concern that the results of normalizing of present values could be…

A Normalized Direct Approach for Estimating the Parameters of the Normal Ogive Three-Parameter Model for Ability Tests.

ERIC Educational Resources Information Center

Gugel, John F.

A new method for estimating the parameters of the normal ogive three-parameter model for multiple-choice test items--the normalized direct (NDIR) procedure--is examined. The procedure is compared to a more commonly used estimation procedure, Lord's LOGIST, using computer simulations. The NDIR procedure uses the normalized (mid-percentile)…

Genomic Changes in Normal Breast Tissue in Women at Normal Risk or at High Risk for Breast Cancer

PubMed Central

Danforth, David N.

2016-01-01

Sporadic breast cancer develops through the accumulation of molecular abnormalities in normal breast tissue, resulting from exposure to estrogens and other carcinogens beginning at adolescence and continuing throughout life. These molecular changes may take a variety of forms, including numerical and structural chromosomal abnormalities, epigenetic changes, and gene expression alterations. To characterize these abnormalities, a review of the literature has been conducted to define the molecular changes in each of the above major genomic categories in normal breast tissue considered to be either at normal risk or at high risk for sporadic breast cancer. This review indicates that normal risk breast tissues (such as reduction mammoplasty) contain evidence of early breast carcinogenesis including loss of heterozygosity, DNA methylation of tumor suppressor and other genes, and telomere shortening. In normal tissues at high risk for breast cancer (such as normal breast tissue adjacent to breast cancer or the contralateral breast), these changes persist, and are increased and accompanied by aneuploidy, increased genomic instability, a wide range of gene expression differences, development of large cancerized fields, and increased proliferation. These changes are consistent with early and long-standing exposure to carcinogens, especially estrogens. A model for the breast carcinogenic pathway in normal risk and high-risk breast tissues is proposed. These findings should clarify our understanding of breast carcinogenesis in normal breast tissue and promote development of improved methods for risk assessment and breast cancer prevention in women. PMID:27559297

Normalized cDNA libraries

DOEpatents

Soares, Marcelo B.; Efstratiadis, Argiris

1997-01-01

This invention provides a method to normalize a directional cDNA library constructed in a vector that allows propagation in single-stranded circle form comprising: (a) propagating the directional cDNA library in single-stranded circles; (b) generating fragments complementary to the 3' noncoding sequence of the single-stranded circles in the library to produce partial duplexes; (c) purifying the partial duplexes; (d) melting and reassociating the purified partial duplexes to moderate Cot; and (e) purifying the unassociated single-stranded circles, thereby generating a normalized cDNA library.

Normalized cDNA libraries

DOEpatents

Soares, M.B.; Efstratiadis, A.

1997-06-10

This invention provides a method to normalize a directional cDNA library constructed in a vector that allows propagation in single-stranded circle form comprising: (a) propagating the directional cDNA library in single-stranded circles; (b) generating fragments complementary to the 3{prime} noncoding sequence of the single-stranded circles in the library to produce partial duplexes; (c) purifying the partial duplexes; (d) melting and reassociating the purified partial duplexes to moderate Cot; and (e) purifying the unassociated single-stranded circles, thereby generating a normalized cDNA library. 4 figs.

Diagnostic dilemma: osteopetrosis with superimposed rickets causing neonatal hypocalcemia.

PubMed

Olgaç, Asburçe; Tümer, Leyla; Boyunağa, Öznur; Kızılkaya, Metehan; Hasanoğlu, Alev

2015-04-01

Osteopetrosis is a rare genetic condition of reduced osteoclastic bone resorption which causes defective bone remodeling and skeletal sclerosis during growth, having effects on many organs and tissues. Mutation of T-cell immune regulator 1 (TCRG1) gene is the most common genetic defect leading to osteopetrosis, with poor prognosis. The autosomal recessive form presents in the infantile period (also known as malignant infantile osteopetrosis--MIOP), and is characterized by fractures, short stature, hepatosplenomegaly, compressive neuropathies, hypocalcemia and pancytopenia. Being a rare disease with non-specific clinical manifestations, the diagnosis is difficult and usually delayed. Rickets is a characteristic feature of MIOP which results from the defect in osteoclasts to provide a normal Ca/P balance resulting in the poor mineralization of the osteoid. Various treatment options have been suggested for osteopetrosis, but hematopoietic stem cell transplantation still remains the only curative treatment option presently. The authors report the case of a 46-day-old girl with late-onset neonatal hypocalcemia and rickets that was later diagnosed as osteopetrosis. This case report emphasizes that infantile osteopetrosis is an important cause of neonatal hypocalcemia. As irreversible complications develop within the first months of life, immediate diagnosis and early intervention are crucial and may be life-saving. © The Author [2015]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Confirmed viral meningitis with normal CSF findings.

PubMed

Dawood, Naghum; Desjobert, Edouard; Lumley, Janine; Webster, Daniel; Jacobs, Michael

2014-07-17

An 18-year-old woman presented with a progressively worsening headache, photophobia feverishness and vomiting. Three weeks previously she had returned to the UK from a trip to Peru. At presentation, she had clinical signs of meningism. On admission, blood tests showed a mild lymphopenia, with a normal C reactive protein and white cell count. Chest X-ray and CT of the head were normal. Cerebrospinal fluid (CSF) microscopy was normal. CSF protein and glucose were in the normal range. MRI of the head and cerebral angiography were also normal. Subsequent molecular testing of CSF detected enterovirus RNA by reverse transcriptase PCR. The patient's clinical syndrome correlated with her virological diagnosis and no other cause of her symptoms was found. Her symptoms were self-limiting and improved with supportive management. This case illustrates an important example of viral central nervous system infection presenting clinically as meningitis but with normal CSF microscopy. 2014 BMJ Publishing Group Ltd.

40 CFR 230.24 - Normal water fluctuations.

Code of Federal Regulations, 2014 CFR

2014-07-01

... 40 Protection of Environment 25 2014-07-01 2014-07-01 false Normal water fluctuations. 230.24... Impacts on Physical and Chemical Characteristics of the Aquatic Ecosystem § 230.24 Normal water fluctuations. (a) Normal water fluctuations in a natural aquatic system consist of daily, seasonal, and annual...

40 CFR 230.24 - Normal water fluctuations.

Code of Federal Regulations, 2012 CFR

2012-07-01

... 40 Protection of Environment 26 2012-07-01 2011-07-01 true Normal water fluctuations. 230.24... Impacts on Physical and Chemical Characteristics of the Aquatic Ecosystem § 230.24 Normal water fluctuations. (a) Normal water fluctuations in a natural aquatic system consist of daily, seasonal, and annual...

What's normal? Influencing women's perceptions of normal genitalia: an experiment involving exposure to modified and nonmodified images.

PubMed

Moran, C; Lee, C

2014-05-01

Examine women's perceptions of what is 'normal' and 'desirable' in female genital appearance. Experiment with random allocation across three conditions. Community. A total of 97 women aged 18-30 years. Women were randomly assigned to view a series of images of (1) surgically modified vulvas or (2) nonmodified vulvas, or (3) no images. They then viewed and rated ten target images of surgically modified vulvas and ten of unmodified vulvas. Women used a four-point Likert scale ('strongly agree' to 'strongly disagree'), to rate each target image for 'looks normal' and 'represents society's ideal'. For each woman, we created two summary scores that represented the extent to which she rated the unmodified vulvas as more 'normal' and more 'society's ideal' than the modified vulvas. For ratings of 'normality,' there was a significant effect for condition (F2,94  = 2.75 P = 0.007, radj2 = 0.082): women who had first viewed the modified images rated the modified target vulvas as more normal than the nonmodified vulvas, significantly different from the control group, who rated them as less normal. For ratings of 'society's ideal', there was again a significant effect for condition (F2,92  = 7.72, P < 0.001, radj2 = 0.125); all three groups rated modified target vulvas as more like society's ideal than the nonmodified target vulvas, with the effect significantly strongest for the women who had viewed the modified images. Exposure to images of modified vulvas may change women's perceptions of what is normal and desirable. This may explain why some healthy women seek labiaplasty. © 2013 Royal College of Obstetricians and Gynaecologists.

Valuation of Normal Range of Ankle Systolic Blood Pressure in Subjects with Normal Arm Systolic Blood Pressure.

PubMed

Gong, Yi; Cao, Kai-wu; Xu, Jin-song; Li, Ju-xiang; Hong, Kui; Cheng, Xiao-shu; Su, Hai

2015-01-01

This study aimed to establish a normal range for ankle systolic blood pressure (SBP). A total of 948 subjects who had normal brachial SBP (90-139 mmHg) at investigation were enrolled. Supine BP of four limbs was simultaneously measured using four automatic BP measurement devices. The ankle-arm difference (An-a) on SBP of both sides was calculated. Two methods were used for establishing normal range of ankle SBP: the 99% method was decided on the 99% reference range of actual ankle BP, and the An-a method was the sum of An-a and the low or up limits of normal arm SBP (90-139 mmHg). Whether in the right or left side, the ankle SBP was significantly higher than the arm SBP (right: 137.1 ± 16.9 vs 119.7 ± 11.4 mmHg, P<0.05). Based on the 99% method, the normal range of ankle SBP was 94~181 mmHg for the total population, 84~166 mmHg for the young (18-44 y), 107~176 mmHg for the middle-aged(45-59 y) and 113~179 mmHg for the elderly (≥ 60 y) group. As the An-a on SBP was 13 mmHg in the young group and 20 mmHg in both middle-aged and elderly groups, the normal range of ankle SBP on the An-a method was 103-153 mmHg for young and 110-160 mmHg for middle-elderly subjects. A primary reference for normal ankle SBP was suggested as 100-165 mmHg in the young and 110-170 mmHg in the middle-elderly subjects.

Strength of Gamma Rhythm Depends on Normalization

PubMed Central

Ray, Supratim; Ni, Amy M.; Maunsell, John H. R.

2013-01-01

Neuronal assemblies often exhibit stimulus-induced rhythmic activity in the gamma range (30–80 Hz), whose magnitude depends on the attentional load. This has led to the suggestion that gamma rhythms form dynamic communication channels across cortical areas processing the features of behaviorally relevant stimuli. Recently, attention has been linked to a normalization mechanism, in which the response of a neuron is suppressed (normalized) by the overall activity of a large pool of neighboring neurons. In this model, attention increases the excitatory drive received by the neuron, which in turn also increases the strength of normalization, thereby changing the balance of excitation and inhibition. Recent studies have shown that gamma power also depends on such excitatory–inhibitory interactions. Could modulation in gamma power during an attention task be a reflection of the changes in the underlying excitation–inhibition interactions? By manipulating the normalization strength independent of attentional load in macaque monkeys, we show that gamma power increases with increasing normalization, even when the attentional load is fixed. Further, manipulations of attention that increase normalization increase gamma power, even when they decrease the firing rate. Thus, gamma rhythms could be a reflection of changes in the relative strengths of excitation and normalization rather than playing a functional role in communication or control. PMID:23393427

[Normal aging of frontal lobe functions].

PubMed

Calso, Cristina; Besnard, Jérémy; Allain, Philippe

2016-03-01

Normal aging in individuals is often associated with morphological, metabolic and cognitive changes, which particularly concern the cerebral frontal regions. Starting from the "frontal lobe hypothesis of cognitive aging" (West, 1996), the present review is based on the neuroanatomical model developed by Stuss (2008), introducing four categories of frontal lobe functions: executive control, behavioural and emotional self-regulation and decision-making, energization and meta-cognitive functions. The selected studies only address the changes of one at least of these functions. The results suggest a deterioration of several cognitive frontal abilities in normal aging: flexibility, inhibition, planning, verbal fluency, implicit decision-making, second-order and affective theory of mind. Normal aging seems also to be characterised by a general reduction in processing speed observed during neuropsychological assessment (Salthouse, 1996). Nevertheless many cognitive functions remain preserved such as automatic or non-conscious inhibition, specific capacities of flexibility and first-order theory of mind. Therefore normal aging doesn't seem to be associated with a global cognitive decline but rather with a selective change in some frontal systems, conclusion which should be taken into account for designing caring programs in normal aging.

[Prospective study on the impact of infantile cytomegalovirus infection on growth and development of infants].

PubMed

2010-05-01

To understand the situation of postnatal cytomegalovirus (CMV) infection in Beijing and its impact on infant. From November 2004 to March 2008, a multicenter cohort study on maternal, neonatal and infantile CMV infection was carried out in four hospitals in Beijing. Two hundred and ten infants without congenital infections were enrolled into this study. Their serum IgG antibody to CMV was determined at the age of 1 year. According to the results of CMV DNA at 12 weeks of age and the CMV IgG results at 1 year of age, they were divided into three groups, perinatal infection group, postnatal infection group and postnatal non-infection group. The information of their mothers, the data of their growth and development at 1 year of age, development quotient, their eyes and their auditory function were analyzed. The risk factors of the postnatal cytomegalovirus infection were analyzed by multi-factorial logistic regression. Of the 210 infants, 42 had perinatal infection, 98 had postnatal infection and 70 had no infection. The postnatal cytomegalovirus infection rate was 46.40%, taken into account the congenital infection rate and perinatal infection rate, the total cytomegalovirus infection rate was 66.85% at 1 year of age. The clinical manifestation, developmental status and the quotient of development from three groups at birth and at 1 year of age were analyzed. No significant difference was found. In postnatal cytomegalovirus infection group the rates of breast feeding, mixed feeding and formula feeding were 87.76%, 9.18% and 3.06%, respectively; while in no infection group the rates were 61.43%, 21.43% and 17.14%, respectively(chi(2) = 17.040, P < 0.01). CMV infection is present widely in China. Non-breast feeding is an important protective factor. Postnatal cytomegalovirus infection in infants had no significant impact on the health and development of infants.

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

PubMed

Ohba, Chihiro; Shiina, Masaaki; Tohyama, Jun; Haginoya, Kazuhiro; Lerman-Sagie, Tally; Okamoto, Nobuhiko; Blumkin, Lubov; Lev, Dorit; Mukaida, Souichi; Nozaki, Fumihito; Uematsu, Mitsugu; Onuma, Akira; Kodera, Hirofumi; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Miyake, Noriko; Tanaka, Fumiaki; Kato, Mitsuhiro; Ogata, Kazuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi

2015-06-01

Recently, de novo mutations in GRIN1 have been identified in patients with nonsyndromic intellectual disability and epileptic encephalopathy. Whole exome sequencing (WES) analysis of patients with genetically unsolved epileptic encephalopathies identified four patients with GRIN1 mutations, allowing us to investigate the phenotypic spectrum of GRIN1 mutations. Eighty-eight patients with unclassified early onset epileptic encephalopathies (EOEEs) with an age of onset <1 year were analyzed by WES. The effect of mutations on N-methyl-D-aspartate (NMDA) receptors was examined by mapping altered amino acids onto three-dimensional models. We identified four de novo missense GRIN1 mutations in 4 of 88 patients with unclassified EOEEs. In these four patients, initial symptoms appeared within 3 months of birth, including hyperkinetic movements in two patients (2/4, 50%), and seizures in two patients (2/4, 50%). Involuntary movements, severe developmental delay, and intellectual disability were recognized in all four patients. In addition, abnormal eye movements resembling oculogyric crises and stereotypic hand movements were observed in two and three patients, respectively. All the four patients exhibited only nonspecific focal and diffuse epileptiform abnormality, and never showed suppression-burst or hypsarrhythmia during infancy. A de novo mosaic mutation (c.1923G>A) with a mutant allele frequency of 16% (in DNA of blood leukocytes) was detected in one patient. Three mutations were located in the transmembrane domain (3/4, 75%), and one in the extracellular loop near transmembrane helix 1. All the mutations were predicted to impair the function of the NMDA receptor. Clinical features of de novo GRIN1 mutations include infantile involuntary movements, seizures, and hand stereotypies, suggesting that GRIN1 mutations cause encephalopathy resulting in seizures and movement disorders. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

Normal metal - insulator - superconductor thermometers and coolers with titanium-gold bilayer as the normal metal

NASA Astrophysics Data System (ADS)

Räisänen, I. M. W.; Geng, Z.; Kinnunen, K. M.; Maasilta, I. J.

2018-03-01

We have fabricated superconductor - insulator - normal metal - insulator - superconductor (SINIS) tunnel junctions in which Al acts as the superconductor, AlOx is the insulator, and the normal metal consists of a thin Ti layer (5 nm) covered with a thicker Au layer (40 nm). We have characterized the junctions by measuring their current-voltage curves between 60 mK and 750 mK. For comparison, the same measurements have been performed for a SINIS junction pair whose normal metal is Cu. The Ti-Au bilayer decreases the SINIS tunneling resistance by an order of magnitude compared to junctions where Cu is used as normal metal, made with the same oxidation parameters. The Ti-Au devices are much more robust against chemical attacks, and their lower tunneling resistance makes them more robust against static charge. More significantly, they exhibit significantly stronger electron cooling than Cu devices with identical fabrication steps, when biased close to the energy gap of the superconducting Al. By using a self-consistent thermal model, we can fit the current-voltage characteristics well, and show an electron cooling from 200 mK to 110 mK, with a non-optimized device.

a Recursive Approach to Compute Normal Forms

NASA Astrophysics Data System (ADS)

HSU, L.; MIN, L. J.; FAVRETTO, L.

2001-06-01

Normal forms are instrumental in the analysis of dynamical systems described by ordinary differential equations, particularly when singularities close to a bifurcation are to be characterized. However, the computation of a normal form up to an arbitrary order is numerically hard. This paper focuses on the computer programming of some recursive formulas developed earlier to compute higher order normal forms. A computer program to reduce the system to its normal form on a center manifold is developed using the Maple symbolic language. However, it should be stressed that the program relies essentially on recursive numerical computations, while symbolic calculations are used only for minor tasks. Some strategies are proposed to save computation time. Examples are presented to illustrate the application of the program to obtain high order normalization or to handle systems with large dimension.

A distinctive type of infantile inflammatory myopathy with abnormal myonuclei.

PubMed

Sripathi, N; Karpati, G; Carpenter, S

1996-03-01

Four infants developed progressive muscle weakness after a normal initial postnatal development. All patients had a moderate elevation of serum creatine kinase (CK) activity. Muscle biopsies revealed, in addition to myopathic features, endomysial and perivascular inflammation. Electron microscopy disclosed prominent myonuclear abnormalities. Corticosteroids in 3 patients were moderately beneficial. This appears to be a clinicopathologically distinct form of inflammatory myopathy of infants.

Neither Hematocrit Normalization nor Exercise Training Restores Oxygen Consumption to Normal Levels in Hemodialysis Patients

PubMed Central

Stray-Gundersen, James; Parsons, Dora Beth; Thompson, Jeffrey R.

2016-01-01

Patients treated with hemodialysis develop severely reduced functional capacity, which can be partially ameliorated by correcting anemia and through exercise training. In this study, we determined perturbations of an erythroid-stimulating agent and exercise training to examine if and where limitation to oxygen transport exists in patients on hemodialysis. Twenty-seven patients on hemodialysis completed a crossover study consisting of two exercise training phases at two hematocrit (Hct) values: 30% (anemic) and 42% (physiologic; normalized by treatment with erythroid-stimulating agent). To determine primary outcome measures of peak power and oxygen consumption (VO2) and secondary measures related to components of oxygen transport and utilization, all patients underwent numerous tests at five time points: baseline, untrained at Hct of 30%, after training at Hct of 30%, untrained at Hct of 42%, and after training at Hct of 42%. Hct normalization, exercise training, or the combination thereof significantly improved peak power and VO2 relative to values in the untrained anemic phase. Hct normalization increased peak arterial oxygen and arteriovenous oxygen difference, whereas exercise training improved cardiac output, citrate synthase activity, and peak tissue diffusing capacity. However, although the increase in arterial oxygen observed in the combination phase reached a value similar to that in healthy sedentary controls, the increase in peak arteriovenous oxygen difference did not. Muscle biopsy specimens showed markedly thickened endothelium and electron–dense interstitial deposits. In conclusion, exercise and Hct normalization had positive effects but failed to normalize exercise capacity in patients on hemodialysis. This effect may be caused by abnormalities identified within skeletal muscle. PMID:27153927

Muscular hypertrophy and atrophy in normal rats provoked by the administration of normal and denervated muscle extracts.

PubMed

Agüera, Eduardo; Castilla, Salvador; Luque, Evelio; Jimena, Ignacio; Leiva-Cepas, Fernando; Ruz-Caracuel, Ignacio; Peña, José

2016-12-01

This study was conducted to determine the effects of extracts obtained from both normal and denervated muscles on different muscle types. Wistar rats were used and were divided into a control group and four experimental groups. Each experimental group was treated intraperitoneally during 10 consecutive days with a different extract. These extracts were obtained from normal soleus muscle, denervated soleus, normal extensor digitorum longus, and denervated extensor digitorum longus. Following treatment, the soleus and extensor digitorum longus muscles were obtained for study under optic and transmission electron microscope; morphometric parameters and myogenic responses were also analyzed. The results demonstrated that the treatment with normal soleus muscle and denervated soleus muscle extracts provoked hypertrophy and increased myogenic activity. In contrast, treatment with extracts from the normal and denervated EDL had a different effect depending on the muscle analyzed. In the soleus muscle it provoked hypertrophy of type I fibers and increased myogenic activity, while in the extensor digitorum longus atrophy of the type II fibers was observed without changes in myogenic activity. This suggests that the muscular responses of atrophy and hypertrophy may depend on different factors related to the muscle type which could be related to innervation.

Atenolol Versus Propranolol for Treatment of Infantile Hemangiomas During the Proliferative Phase: A Retrospective Noninferiority Study.

PubMed

Bayart, Cheryl B; Tamburro, Joan E; Vidimos, Allison T; Wang, Lu; Golden, Alex B

2017-07-01

The nonselective beta-blocker propranolol is the current criterion standard for treatment of infantile hemangiomas (IHs) and the first therapy that the U.S. Food and Drug Administration has approved for the condition, but concern about adverse effects, such as bronchospasm, hypoglycemia, and sleep disturbances, has sparked interest in the use of alternative agents such as the selective β1 antagonist atenolol. Our aim was to compare the efficacy and adverse effect profiles of atenolol with those of propranolol in the treatment of IHs in a retrospective noninferiority trial. Twenty-seven children with IHs treated with atenolol according to the Cleveland Clinic foundation's standardized clinical assessment and management plan (SCAMP) met inclusion criteria and were compared with a matched group of 53 children with IHs treated with propranolol. Three reviewers assessed response to therapy using a modified version of the previously validated Hemangioma Activity Score (HAS). The mean change in HAS was -2.94 ± 1.20 for patients treated with atenolol and -2.96 ± 1.42 for those treated with propranolol. There was no statistically significant difference in pre- and posttreatment modified HAS scores between the two groups (p = 0.60). There was no significant difference in the overall rate of adverse effects (p = 0.10), although 11% of patients treated with propranolol experienced reactive airway symptoms, whereas this was not seen in any of the patients treated with atenolol. Our study supports previous findings that atenolol is at least as effective as propranolol for treatment of IHs and poses less risk of bronchospasm. Our SCAMP proposes guidelines for dosing and monitoring parameters. © 2017 Wiley Periodicals, Inc.

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.

PubMed

Falace, Antonio; Filipello, Fabia; La Padula, Veronica; Vanni, Nicola; Madia, Francesca; De Pietri Tonelli, Davide; de Falco, Fabrizio A; Striano, Pasquale; Dagna Bricarelli, Franca; Minetti, Carlo; Benfenati, Fabio; Fassio, Anna; Zara, Federico

2010-09-10

Idiopathic epilepsies (IEs) are a group of disorders characterized by recurrent seizures in the absence of detectable brain lesions or metabolic abnormalities. IEs include common disorders with a complex mode of inheritance and rare Mendelian traits suggesting the occurrence of several alleles with variable penetrance. We previously described a large family with a recessive form of idiopathic epilepsy, named familial infantile myoclonic epilepsy (FIME), and mapped the disease locus on chromosome 16p13.3 by linkage analysis. In the present study, we found that two compound heterozygous missense mutations (D147H and A509V) in TBC1D24, a gene of unknown function, are responsible for FIME. In situ hybridization analysis revealed that Tbc1d24 is mainly expressed at the level of the cerebral cortex and the hippocampus. By coimmunoprecipitation assay we found that TBC1D24 binds ARF6, a Ras-related family of small GTPases regulating exo-endocytosis dynamics. The main recognized function of ARF6 in the nervous system is the regulation of dendritic branching, spine formation, and axonal extension. TBC1D24 overexpression resulted in a significant increase in neurite length and arborization and the FIME mutations significantly reverted this phenotype. In this study we identified a gene mutation involved in autosomal-recessive idiopathic epilepsy, unveiled the involvement of ARF6-dependent molecular pathway in brain hyperexcitability and seizures, and confirmed the emerging role of subtle cytoarchitectural alterations in the etiology of this group of common epileptic disorders. 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Normalization of satellite imagery

NASA Technical Reports Server (NTRS)

Kim, Hongsuk H.; Elman, Gregory C.

1990-01-01

Sets of Thematic Mapper (TM) imagery taken over the Washington, DC metropolitan area during the months of November, March and May were converted into a form of ground reflectance imagery. This conversion was accomplished by adjusting the incident sunlight and view angles and by applying a pixel-by-pixel correction for atmospheric effects. Seasonal color changes of the area can be better observed when such normalization is applied to space imagery taken in time series. In normalized imagery, the grey scale depicts variations in surface reflectance and tonal signature of multi-band color imagery can be directly interpreted for quantitative information of the target.

Evaluation of CT-based SUV normalization

NASA Astrophysics Data System (ADS)

Devriese, Joke; Beels, Laurence; Maes, Alex; Van de Wiele, Christophe; Pottel, Hans

2016-09-01

The purpose of this study was to determine patients’ lean body mass (LBM) and lean tissue (LT) mass using a computed tomography (CT)-based method, and to compare standardized uptake value (SUV) normalized by these parameters to conventionally normalized SUVs. Head-to-toe positron emission tomography (PET)/CT examinations were retrospectively retrieved and semi-automatically segmented into tissue types based on thresholding of CT Hounsfield units (HU). The following HU ranges were used for determination of CT-estimated LBM and LT (LBMCT and LTCT):  -180 to  -7 for adipose tissue (AT), -6 to 142 for LT, and 143 to 3010 for bone tissue (BT). Formula-estimated LBMs were calculated using formulas of James (1976 Research on Obesity: a Report of the DHSS/MRC Group (London: HMSO)) and Janmahasatian et al (2005 Clin. Pharmacokinet. 44 1051-65), and body surface area (BSA) was calculated using the DuBois formula (Dubois and Dubois 1989 Nutrition 5 303-11). The CT segmentation method was validated by comparing total patient body weight (BW) to CT-estimated BW (BWCT). LBMCT was compared to formula-based estimates (LBMJames and LBMJanma). SUVs in two healthy reference tissues, liver and mediastinum, were normalized for the aforementioned parameters and compared to each other in terms of variability and dependence on normalization factors and BW. Comparison of actual BW to BWCT shows a non-significant difference of 0.8 kg. LBMJames estimates are significantly higher than LBMJanma with differences of 4.7 kg for female and 1.0 kg for male patients. Formula-based LBM estimates do not significantly differ from LBMCT, neither for men nor for women. The coefficient of variation (CV) of SUV normalized for LBMJames (SUVLBM-James) (12.3%) was significantly reduced in liver compared to SUVBW (15.4%). All SUV variances in mediastinum were significantly reduced (CVs were 11.1-12.2%) compared to SUVBW (15.5%), except SUVBSA (15.2%). Only SUVBW and SUVLBM-James show

Normal Psychosexual Development

ERIC Educational Resources Information Center

Rutter, Michael

1971-01-01

Normal sexual development is reviewed with respect to physical maturation, sexual interests, sex drive", psychosexual competence and maturity, gender role, object choice, children's concepts of sexual differences, sex role preference and standards, and psychosexual stages. Biologic, psychoanalytic and psychosocial theories are briefly considered.…

Genetics Home Reference: dopamine transporter deficiency syndrome

MedlinePlus

... link) PARKINSONISM-DYSTONIA, INFANTILE Sources for This Page Blackstone C. Infantile parkinsonism-dystonia due to dopamine transporter ... 5. Epub 2010 Nov 25. Citation on PubMed Blackstone C. Infantile parkinsonism-dystonia: a dopamine "transportopathy". J ...

Visual attention and flexible normalization pools

PubMed Central

Schwartz, Odelia; Coen-Cagli, Ruben

2013-01-01

Attention to a spatial location or feature in a visual scene can modulate the responses of cortical neurons and affect perceptual biases in illusions. We add attention to a cortical model of spatial context based on a well-founded account of natural scene statistics. The cortical model amounts to a generalized form of divisive normalization, in which the surround is in the normalization pool of the center target only if they are considered statistically dependent. Here we propose that attention influences this computation by accentuating the neural unit activations at the attended location, and that the amount of attentional influence of the surround on the center thus depends on whether center and surround are deemed in the same normalization pool. The resulting form of model extends a recent divisive normalization model of attention (Reynolds & Heeger, 2009). We simulate cortical surround orientation experiments with attention and show that the flexible model is suitable for capturing additional data and makes nontrivial testable predictions. PMID:23345413

A normalization strategy for comparing tag count data

PubMed Central

2012-01-01

Background High-throughput sequencing, such as ribonucleic acid sequencing (RNA-seq) and chromatin immunoprecipitation sequencing (ChIP-seq) analyses, enables various features of organisms to be compared through tag counts. Recent studies have demonstrated that the normalization step for RNA-seq data is critical for a more accurate subsequent analysis of differential gene expression. Development of a more robust normalization method is desirable for identifying the true difference in tag count data. Results We describe a strategy for normalizing tag count data, focusing on RNA-seq. The key concept is to remove data assigned as potential differentially expressed genes (DEGs) before calculating the normalization factor. Several R packages for identifying DEGs are currently available, and each package uses its own normalization method and gene ranking algorithm. We compared a total of eight package combinations: four R packages (edgeR, DESeq, baySeq, and NBPSeq) with their default normalization settings and with our normalization strategy. Many synthetic datasets under various scenarios were evaluated on the basis of the area under the curve (AUC) as a measure for both sensitivity and specificity. We found that packages using our strategy in the data normalization step overall performed well. This result was also observed for a real experimental dataset. Conclusion Our results showed that the elimination of potential DEGs is essential for more accurate normalization of RNA-seq data. The concept of this normalization strategy can widely be applied to other types of tag count data and to microarray data. PMID:22475125

Social Impact of Facial Infantile Hemangiomas in Preteen Children.

PubMed

Costa, Victoria A; Haimowitz, Rachel; Cheng, Yao I; Wang, Jichuan; Silverman, Robert A; Bauman, Nancy M

2016-01-01

Involuted infantile facial hemangiomas (IHs) may adversely affect the social skills of children. To assess the social impact of involuted facial IHs, with or without prior treatment, in preteen children. An observational, cross-sectional study of social anxiety and skills in preteen children with facial IHs diagnosed during infancy. The study took place in an academic institution and a community dermatology practice between January 1, 2013, and July 30, 2014. Records on 236 children with IHs located in a cosmetically sensitive area were identified; of those, 144 potential participants (parents) were reached by telephone and mailed study packets. Thirty completed questionnaires were returned. Data analysis was performed from August 1, 2014, to September 7, 2015. The questionnaires included the following psychiatric scales: (1) Social Anxiety Scale for Children-Revised (SASC-R), completed by parents and children, including the domains of Fear of Negative Evaluation and Social Avoidance/Distress in New Situations (SAD-New) (higher scores indicate greater social anxiety), and (2) Social Competency Inventory (SCI), completed by parents, including the domains of Prosocial Behavior and Social Initiative (lower scores indicate poorer social competency). Demographics, clinical details, and survey responses were collected. Analysis was conducted using t tests to compare scores for each survey domain with established normative data and between sex as well as between treatment vs nontreatment groups. Of the 144 potential participants, 30 (21%) responded. The mean age of the preteen subjects was 10.0 years (range, 5.4-12.9 years) with a 2:1 female to male ratio. Twenty-five children (83%) had a single IH, and the remaining 5 participants (17%) had multiple IHs, with at least 1 IH in a cosmetically sensitive area. The periocular region was the most common site of the IH (10 [33%]), followed by the nose (6 [20%]), cheek (5 [17%]), forehead (4 [13%]), lip or perioral region (4 [13

Parental Perceptions of the Outcome and Meaning of Normalization

PubMed Central

Knafl, Kathleen A.; Darney, Blair G.; Gallo, Agatha M.; Angst, Denise B.

2010-01-01

The purpose of this secondary analysis was to identify the meaning of normalization for parents of a child with a chronic genetic condition. The sample was comprised of 28 families (48 parents), selected to reflect two groups: Normalization Present (NP) and Normalization Absent (NA). Constant comparison analysis was used to identify themes characterizing parents' perceptions of the meaning of normalization. The meanings parents attributed to normalization reflected their evaluation of condition management, parenting role, and condition impact, with parents in the NP and NA groups demonstrating distinct patterns of meaning. These meaning patterns are discussed as an outcome of normalization. Providers can play a pivotal role in helping families achieve normalization by providing guidance on how to balance condition management with normal family life. PMID:20108258

18 CFR 154.305 - Tax normalization.

Code of Federal Regulations, 2011 CFR

2011-04-01

... 18 Conservation of Power and Water Resources 1 2011-04-01 2011-04-01 false Tax normalization. 154.305 Section 154.305 Conservation of Power and Water Resources FEDERAL ENERGY REGULATORY COMMISSION... Changes § 154.305 Tax normalization. (a) Applicability. An interstate pipeline must compute the income tax...

18 CFR 154.305 - Tax normalization.

Code of Federal Regulations, 2012 CFR

2012-04-01

... 18 Conservation of Power and Water Resources 1 2012-04-01 2012-04-01 false Tax normalization. 154.305 Section 154.305 Conservation of Power and Water Resources FEDERAL ENERGY REGULATORY COMMISSION... Changes § 154.305 Tax normalization. (a) Applicability. An interstate pipeline must compute the income tax...

18 CFR 154.305 - Tax normalization.

Code of Federal Regulations, 2013 CFR

2013-04-01

... 18 Conservation of Power and Water Resources 1 2013-04-01 2013-04-01 false Tax normalization. 154.305 Section 154.305 Conservation of Power and Water Resources FEDERAL ENERGY REGULATORY COMMISSION... Changes § 154.305 Tax normalization. (a) Applicability. An interstate pipeline must compute the income tax...

18 CFR 154.305 - Tax normalization.

Code of Federal Regulations, 2014 CFR

2014-04-01

... 18 Conservation of Power and Water Resources 1 2014-04-01 2014-04-01 false Tax normalization. 154.305 Section 154.305 Conservation of Power and Water Resources FEDERAL ENERGY REGULATORY COMMISSION... Changes § 154.305 Tax normalization. (a) Applicability. An interstate pipeline must compute the income tax...

A normality bias in legal decision making.

PubMed

Prentice, Robert A; Koehler, Jonathan J

2003-03-01

It is important to understand how legal fact finders determine causation and assign blame. However, this process is poorly understood. Among the psychological factors that affect decision makers are an omission bias (a tendency to blame actions more than inactions [omissions] for bad results), and a normality bias (a tendency to react more strongly to bad outcomes that spring from abnormal rather than normal circumstances). The omission and normality biases often reinforce one another when inaction preserves the normal state and when action creates an abnormal state. But what happens when these biases push in opposite directions as they would when inaction promotes an abnormal state or when action promotes a normal state? Which bias exerts the stronger influence on the judgments and behaviors of legal decision makers? The authors address this issue in two controlled experiments. One experiment involves medical malpractice and the other involves stockbroker negligence. They find that jurors pay much more attention to the normality of conditions than to whether those conditions arose through acts or omissions. Defendants who followed a nontraditional medical treatment regime or who chose a nontraditional stock portfolio received more blame and more punishment for bad outcomes than did defendants who obtained equally poor results after recommending a traditional medical regime or a traditional stock portfolio. Whether these recommendations entailed an action or an omission was essentially irrelevant. The Article concludes with a discussion of the implications of a robust normality bias for American jurisprudence.

Normal peer models and autistic children's learning.

PubMed Central

Egel, A L; Richman, G S; Koegel, R L

1981-01-01

Present research and legislation regarding mainstreaming autistic children into normal classrooms have raised the importance of studying whether autistic children can benefit from observing normal peer models. The present investigation systematically assessed whether autistic children's learning of discrimination tasks could be improved if they observed normal children perform the tasks correctly. In the context of a multiple baseline design, four autistic children worked on five discrimination tasks that their teachers reported were posing difficulty. Throughout the baseline condition the children evidenced very low levels of correct responding on all five tasks. In the subsequent treatment condition, when normal peers modeled correct responses, the autistic children's correct responding increased dramatically. In each case, the peer modeling procedure produced rapid achievement of the acquisition which was maintained after the peer models were removed. These results are discussed in relation to issues concerning observational learning and in relation to the implications for mainstreaming autistic children into normal classrooms. PMID:7216930

CNN-based ranking for biomedical entity normalization.

PubMed

Li, Haodi; Chen, Qingcai; Tang, Buzhou; Wang, Xiaolong; Xu, Hua; Wang, Baohua; Huang, Dong

2017-10-03

Most state-of-the-art biomedical entity normalization systems, such as rule-based systems, merely rely on morphological information of entity mentions, but rarely consider their semantic information. In this paper, we introduce a novel convolutional neural network (CNN) architecture that regards biomedical entity normalization as a ranking problem and benefits from semantic information of biomedical entities. The CNN-based ranking method first generates candidates using handcrafted rules, and then ranks the candidates according to their semantic information modeled by CNN as well as their morphological information. Experiments on two benchmark datasets for biomedical entity normalization show that our proposed CNN-based ranking method outperforms traditional rule-based method with state-of-the-art performance. We propose a CNN architecture that regards biomedical entity normalization as a ranking problem. Comparison results show that semantic information is beneficial to biomedical entity normalization and can be well combined with morphological information in our CNN architecture for further improvement.

Normal stresses in shear thickening granular suspensions.

PubMed

Pan, Zhongcheng; de Cagny, Henri; Habibi, Mehdi; Bonn, Daniel

2017-05-24

When subjected to shear, granular suspensions exhibit normal stresses perpendicular to the shear plane but the magnitude and sign of the different components of the normal stresses are still under debate. By performing both oscillatory and rotational rheology measurements on shear thickening granular suspensions and systematically varying the particle diameters and the gap sizes between two parallel-plates, we show that a transition from a positive to a negative normal stress can be observed. We find that frictional interactions which determine the shear thickening behavior of suspensions contribute to the positive normal stresses. Increasing the particle diameters or decreasing the gap sizes leads to a growing importance of hydrodynamic interactions, which results in negative normal stresses. We determine a relaxation time for the system, set by both the pore and the gap sizes, that governs the fluid flow through the inter-particle space. Finally, using a two-fluid model we determine the relative contributions from the particle phase and the liquid phase.

Statistical normalization techniques for magnetic resonance imaging.

PubMed

Shinohara, Russell T; Sweeney, Elizabeth M; Goldsmith, Jeff; Shiee, Navid; Mateen, Farrah J; Calabresi, Peter A; Jarso, Samson; Pham, Dzung L; Reich, Daniel S; Crainiceanu, Ciprian M

2014-01-01

While computed tomography and other imaging techniques are measured in absolute units with physical meaning, magnetic resonance images are expressed in arbitrary units that are difficult to interpret and differ between study visits and subjects. Much work in the image processing literature on intensity normalization has focused on histogram matching and other histogram mapping techniques, with little emphasis on normalizing images to have biologically interpretable units. Furthermore, there are no formalized principles or goals for the crucial comparability of image intensities within and across subjects. To address this, we propose a set of criteria necessary for the normalization of images. We further propose simple and robust biologically motivated normalization techniques for multisequence brain imaging that have the same interpretation across acquisitions and satisfy the proposed criteria. We compare the performance of different normalization methods in thousands of images of patients with Alzheimer's disease, hundreds of patients with multiple sclerosis, and hundreds of healthy subjects obtained in several different studies at dozens of imaging centers.

Is My Penis Normal? (For Teens)

MedlinePlus

... worried about whether his penis is a normal size. There's a fairly wide range of normal penis sizes — just as there is for every other body part. And just like other parts of the body, how a penis appears at different stages of a guy's life varies quite a ...

A Skew-Normal Mixture Regression Model

ERIC Educational Resources Information Center

Liu, Min; Lin, Tsung-I

2014-01-01

A challenge associated with traditional mixture regression models (MRMs), which rest on the assumption of normally distributed errors, is determining the number of unobserved groups. Specifically, even slight deviations from normality can lead to the detection of spurious classes. The current work aims to (a) examine how sensitive the commonly…

Correcting the Normalized Gain for Guessing

ERIC Educational Resources Information Center

Stewart, John; Stewart, Gay

2010-01-01

The normalized gain, "g", has been an important tool for the characterization of conceptual improvement in physics courses since its use in Hake's extensive study on conceptual learning in introductory physics. The normalized gain is calculated from the score on a pre-test administered before instruction and a post-test administered…

Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases.

PubMed

Junaid, M A; Pullarkat, R K

1999-04-02

A recent study has shown mutations in CLN2 gene, that encodes a novel lysosomal pepstatin-insensitive proteinase (LPIP), in the pathophysiology of late-infantile neuronal ceroid lipofuscinosis (LINCL). We have measured the LPIP activities in brains from various forms of human neuronal ceroid lipofuscinoses (NCL), canine ceroid lipofuscinosis and other neurodegenerative disorders with a highly sensitive assay using a tetrapeptide Gly-Phe-Phe-Leu-amino-trifluoromethyl coumarin (AFC) as substrate. Brain LPIP has a pH optimum of 3.5 and an apparent km of 100 microM for the crude enzyme. The enzyme activity is totally absent in LINCL patients. Pronounced increase in the LPIP activity was seen in patients suffering from infantile (INCL), juvenile (JNCL) and adult (ANCL) forms of neuronal ceroid lipofuscinoses. LPIP activity was also found to be increased about two-fold in Alzheimer's disease when compared with normal or age-matched controls, while in globoidal-cell leukodystrophy (Krabbe's disease) it was similar to the normal controls. Although mannose-6-phosphorylated LPIP is increased 13-fold in brains of patients with JNCL, this form of LPIP did not have any enzyme activity. The mechanism by which LPIP activities are increased in a wide range of neurodegenerative diseases is unknown, although neuronal loss, followed by gliosis are common characteristics of these diseases.

Normalized Temperature Contrast Processing in Infrared Flash Thermography

NASA Technical Reports Server (NTRS)

Koshti, Ajay M.

2016-01-01

The paper presents further development in normalized contrast processing used in flash infrared thermography method. Method of computing normalized image or pixel intensity contrast, and normalized temperature contrast are provided. Methods of converting image contrast to temperature contrast and vice versa are provided. Normalized contrast processing in flash thermography is useful in quantitative analysis of flash thermography data including flaw characterization and comparison of experimental results with simulation. Computation of normalized temperature contrast involves use of flash thermography data acquisition set-up with high reflectivity foil and high emissivity tape such that the foil, tape and test object are imaged simultaneously. Methods of assessing other quantitative parameters such as emissivity of object, afterglow heat flux, reflection temperature change and surface temperature during flash thermography are also provided. Temperature imaging and normalized temperature contrast processing provide certain advantages over normalized image contrast processing by reducing effect of reflected energy in images and measurements, therefore providing better quantitative data. Examples of incorporating afterglow heat-flux and reflection temperature evolution in flash thermography simulation are also discussed.

Evaluation of normalization methods in mammalian microRNA-Seq data

PubMed Central

Garmire, Lana Xia; Subramaniam, Shankar

2012-01-01

Simple total tag count normalization is inadequate for microRNA sequencing data generated from the next generation sequencing technology. However, so far systematic evaluation of normalization methods on microRNA sequencing data is lacking. We comprehensively evaluate seven commonly used normalization methods including global normalization, Lowess normalization, Trimmed Mean Method (TMM), quantile normalization, scaling normalization, variance stabilization, and invariant method. We assess these methods on two individual experimental data sets with the empirical statistical metrics of mean square error (MSE) and Kolmogorov-Smirnov (K-S) statistic. Additionally, we evaluate the methods with results from quantitative PCR validation. Our results consistently show that Lowess normalization and quantile normalization perform the best, whereas TMM, a method applied to the RNA-Sequencing normalization, performs the worst. The poor performance of TMM normalization is further evidenced by abnormal results from the test of differential expression (DE) of microRNA-Seq data. Comparing with the models used for DE, the choice of normalization method is the primary factor that affects the results of DE. In summary, Lowess normalization and quantile normalization are recommended for normalizing microRNA-Seq data, whereas the TMM method should be used with caution. PMID:22532701

Laparoscopic versus open pyloromyotomy for infantile hypertropic pyloric stenosis: an early experience.

PubMed

Saha, N; Saha, D K; Rahman, M A; Aziz, M A; Islam, M K

2012-07-01

This prospective comparative study was conducted with an initial experience in the Department of Pediatric Surgery, Dhaka Shishu (Children) Hospital during the period of December 2007 to January 2009, with the infants of 2-12 weeks age, diagnosed as Hypertrophic pyloric stenosis. Patients selection was done by simple random technique by means of lottery. For open pyloromyotomy conventional method & for laparoscopic pyloromyotomy three trocher techniques was applied. In this study, among 60 cases with infantile hypertrophic pyloric stenosis, 30 cases were finally selected for analysis irrespectively both in laparoscopic (Group A) & in open pyloromyotomy (Group B) group. Patients were studied under variables of operative time, required time of full feeds after operation, post operative hospital stay & both per and post operative complications. Regarding operative time, in Group A, mean±SD operating time (in minutes) was 61.59±51.73 whereas in Group B it was 28.33±8.40 & P value was 0.001. The result was statistically significant. The mean±SD time (in hours) of full feeds (ad libitum) was 35.00±31.70 hours in Group A compared to 28.95±10.99 hours in Group B and P value was found 0.342ns which was not statistically significant. On study of total length (in days) of post operative hospital stay, mean±SD was 3.09±2.25 & 2.58±1.15days in laparoscopic group & open pyloromyotomy group respectively. The p value was 0.355ns, which was statistically insignificant. Again, on study of complications, per operatively 6(19.5%) patients had developed haemorrage, 1(3.33%) had mucosal perforation & 4(13.36%) had developed duodenal serosal injury in laparoscopic group whereas only 1(3.33%) patient in open pyloromyotomy group had nothing else except simple hemorrhage. The p value (0.051ns) was also statistically insignificant. In regard to post operative complications, 2(6.6%) patients had developed wound hematoma, 2(6.6%) had wound infection, 1(3.33 %) had developed wound

Cerebral Asymmetry and the Development of Infantile Autism. Report No. 64.

ERIC Educational Resources Information Center

Blackstock, Edward G.

The notion that autistic children process information predominantly by strategies of the right cerebral hemisphere from birth, and unless unusual events occur, continue to be right hemisphere processors throughout their life, is examined. Evidence that suggests that cerebral dominance may be present at birth in normal humans, and that for normal…

Economic values under inappropriate normal distribution assumptions.

PubMed

Sadeghi-Sefidmazgi, A; Nejati-Javaremi, A; Moradi-Shahrbabak, M; Miraei-Ashtiani, S R; Amer, P R

2012-08-01

The objectives of this study were to quantify the errors in economic values (EVs) for traits affected by cost or price thresholds when skewed or kurtotic distributions of varying degree are assumed to be normal and when data with a normal distribution is subject to censoring. EVs were estimated for a continuous trait with dichotomous economic implications because of a price premium or penalty arising from a threshold ranging between -4 and 4 standard deviations from the mean. In order to evaluate the impacts of skewness, positive and negative excess kurtosis, standard skew normal, Pearson and the raised cosine distributions were used, respectively. For the various evaluable levels of skewness and kurtosis, the results showed that EVs can be underestimated or overestimated by more than 100% when price determining thresholds fall within a range from the mean that might be expected in practice. Estimates of EVs were very sensitive to censoring or missing data. In contrast to practical genetic evaluation, economic evaluation is very sensitive to lack of normality and missing data. Although in some special situations, the presence of multiple thresholds may attenuate the combined effect of errors at each threshold point, in practical situations there is a tendency for a few key thresholds to dominate the EV, and there are many situations where errors could be compounded across multiple thresholds. In the development of breeding objectives for non-normal continuous traits influenced by value thresholds, it is necessary to select a transformation that will resolve problems of non-normality or consider alternative methods that are less sensitive to non-normality.

Univariate normalization of bispectrum using Hölder's inequality.

PubMed

Shahbazi, Forooz; Ewald, Arne; Nolte, Guido

2014-08-15

Considering that many biological systems including the brain are complex non-linear systems, suitable methods capable of detecting these non-linearities are required to study the dynamical properties of these systems. One of these tools is the third order cummulant or cross-bispectrum, which is a measure of interfrequency interactions between three signals. For convenient interpretation, interaction measures are most commonly normalized to be independent of constant scales of the signals such that its absolute values are bounded by one, with this limit reflecting perfect coupling. Although many different normalization factors for cross-bispectra were suggested in the literature these either do not lead to bounded measures or are themselves dependent on the coupling and not only on the scale of the signals. In this paper we suggest a normalization factor which is univariate, i.e., dependent only on the amplitude of each signal and not on the interactions between signals. Using a generalization of Hölder's inequality it is proven that the absolute value of this univariate bicoherence is bounded by zero and one. We compared three widely used normalizations to the univariate normalization concerning the significance of bicoherence values gained from resampling tests. Bicoherence values are calculated from real EEG data recorded in an eyes closed experiment from 10 subjects. The results show slightly more significant values for the univariate normalization but in general, the differences are very small or even vanishing in some subjects. Therefore, we conclude that the normalization factor does not play an important role in the bicoherence values with regard to statistical power, although a univariate normalization is the only normalization factor which fulfills all the required conditions of a proper normalization. Copyright © 2014 Elsevier B.V. All rights reserved.

Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism.

PubMed

Woody, April L; Hsieh, David T; McIver, Harkirtin K; Thomas, Linda P; Rohena, Luis

2015-04-01

Vanishing White Matter disease (VWM) is an inherited progressive leukoencephalopathy caused by mutations in the genes EIF2B1-5, which encode for the 5 subunits of the eukaryotic initiation factor 2B (eIF2B), a regulator of protein synthesis. VWM typically presents with acute neurological decline following febrile infections or minor head trauma, and subsequent progressive neurological and cognitive regression. There is a varied clinical spectrum of VWM, with earlier onset associated with more severe phenotypes. Brain magnetic resonance imaging is usually diagnostic with diffusely abnormal white matter, progressing over time to cystic degeneration. We are reporting on a patient with infantile onset VWM associated with three heterozygous missense variants in EIF2B5, including a novel missense variant on exon 6 of EIF2B5 (D262N), as well as an interstitial duplication at 7q21.12. In addition, our case is unusual because of a severe epilepsy course, a novel clinical finding of hypopituitarism manifested by hypothyroidism and adrenal insufficiency, and a prolonged life span with current age of survival of 4 years and 11 months. © 2015 Wiley Periodicals, Inc.

Score Normalization for Keyword Search

DTIC Science & Technology

2016-06-23

Anahtar Sözcük Arama için Skor Düzgeleme Score Normalization for Keyword Search Leda Sarı, Murat Saraçlar Elektrik ve Elektronik Mühendisliği Bölümü...skor düzgeleme. Abstract—In this work, keyword search (KWS) is based on a symbolic index that uses posteriorgram representation of the speech data...For each query, sum-to-one normalization or keyword specific thresholding is applied to the search results. The effect of these methods on the proposed

Normal forms of Hopf-zero singularity

NASA Astrophysics Data System (ADS)

Gazor, Majid; Mokhtari, Fahimeh

2015-01-01

The Lie algebra generated by Hopf-zero classical normal forms is decomposed into two versal Lie subalgebras. Some dynamical properties for each subalgebra are described; one is the set of all volume-preserving conservative systems while the other is the maximal Lie algebra of nonconservative systems. This introduces a unique conservative-nonconservative decomposition for the normal form systems. There exists a Lie-subalgebra that is Lie-isomorphic to a large family of vector fields with Bogdanov-Takens singularity. This gives rise to a conclusion that the local dynamics of formal Hopf-zero singularities is well-understood by the study of Bogdanov-Takens singularities. Despite this, the normal form computations of Bogdanov-Takens and Hopf-zero singularities are independent. Thus, by assuming a quadratic nonzero condition, complete results on the simplest Hopf-zero normal forms are obtained in terms of the conservative-nonconservative decomposition. Some practical formulas are derived and the results implemented using Maple. The method has been applied on the Rössler and Kuramoto-Sivashinsky equations to demonstrate the applicability of our results.

Normal stresses in semiflexible polymer hydrogels

NASA Astrophysics Data System (ADS)

Vahabi, M.; Vos, Bart E.; de Cagny, Henri C. G.; Bonn, Daniel; Koenderink, Gijsje H.; MacKintosh, F. C.

2018-03-01

Biopolymer gels such as fibrin and collagen networks are known to develop tensile axial stress when subject to torsion. This negative normal stress is opposite to the classical Poynting effect observed for most elastic solids including synthetic polymer gels, where torsion provokes a positive normal stress. As shown recently, this anomalous behavior in fibrin gels depends on the open, porous network structure of biopolymer gels, which facilitates interstitial fluid flow during shear and can be described by a phenomenological two-fluid model with viscous coupling between network and solvent. Here we extend this model and develop a microscopic model for the individual diagonal components of the stress tensor that determine the axial response of semiflexible polymer hydrogels. This microscopic model predicts that the magnitude of these stress components depends inversely on the characteristic strain for the onset of nonlinear shear stress, which we confirm experimentally by shear rheometry on fibrin gels. Moreover, our model predicts a transient behavior of the normal stress, which is in excellent agreement with the full time-dependent normal stress we measure.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

PubMed

Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana

2017-02-02

Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy. We observe an identical recurrent de novo heterozygous c.892C>T (p.Arg298Trp) variant in the nucleus accumbens associated 1 (NACC1) gene in seven affected individuals. One of the seven individuals is mosaic for this variant. NACC1 encodes a transcriptional repressor implicated in gene expression and has not previously been associated with germline disorders. The probability of finding the same missense NACC1 variant by chance in 7 out of 17,228 individuals who underwent WES for diagnoses of neurodevelopmental phenotypes is extremely small and achieves genome-wide significance (p = 1.25 × 10 -14 ). Selective constraint against missense variants in NACC1 makes this excess of an identical missense variant in all seven individuals more remarkable. Our findings are consistent with a germline recurrent mutational hotspot associated with an allele-specific neurodevelopmental phenotype in NACC1. Copyright © 2017 American Society of Human Genetics. All rights reserved.

Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis.

PubMed

Ghosh, Arunava; Rangasamy, Suresh Babu; Modi, Khushbu K; Pahan, Kalipada

2017-05-01

Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) is a rare neurodegenerative disease caused by mutations in the Cln2 gene that leads to deficiency or loss of function of the tripeptidyl peptidase 1 (TPP1) enzyme. TPP1 deficiency is known to cause the accumulation of autofluoroscent lipid-protein pigments in brain. Similar to other neurodegenerative disorders, LINCL is also associated with neuroinflammation and neuronal damage. Despite investigations, no effective therapy is currently available for LINCL. Therefore, we administered gemfibrozil (gem), an food and drug administration (FDA)-approved lipid-lowering drug, which has been shown to stimulate lysosomal biogenesis and induce anti-inflammation, orally, at a dose of 7.5 mg/kg body wt/day to Cln2 (-/-) mice. We observed that gem-fed Cln2 (-/-) mice lived longer by more than 10 weeks and had better motor activity compared to vehicle (0.1% Methyl cellulose) treatment. Gem treatment lowered the burden of storage materials, increased anti-inflammatory factors like SOCS3 and IL-1Ra, up-regulated anti-apoptotic molecule like phospho-Bad, and reduced neuronal apoptosis in the brain of Cln2 (-/-) mice. Collectively, this study reinforces a neuroprotective role of gem that may be of therapeutic interest in improving the quality of life in LINCL patients. © 2017 International Society for Neurochemistry.