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Total 27 results found since Jan 2013.

A Systematic Review of the Risks Factors Associated with the Onset and Natural Progression of Hydrocephalus.
Abstract The purpose of this study was to systematically assess and synthesize the world literature on risk factors for the onset and natural progression of hydrocephalus, thereby providing a basis for policy makers to identify appropriate risk management measures to mitigate the burden of disease in Canada. Evidence for risk factors was limited for both onset and progression. Two meta-analyses that examined a risk factor for onset met the inclusion criteria. One found a significant protective effect of prenatal vitamins among case control studies, but not cohort/randomized controlled trials (RCTs). The second fou...
Source: Neurotoxicology - March 17, 2016 Category: Neurology Authors: Walsh S, Donnan J, Morrissey A, Sikora L, Bowen S, Collins K, MacDonald D Tags: Neurotoxicology Source Type: research

Obstructive hydrocephalus in pyridoxine dependent epilepsy: An Uncommon complication
Pyridoxine dependent epilepsy (PDE) is an autosomal recessive inherited disorder of lysine catabolism, which is characterized by a therapeutic response to pharmacological dosages of vitamin B6 and resistance to conventional antiepileptic treatment. We read recently published article by Van Karnebeek et al 1 describing expanding phenotypic spectrum of children with PDE with great interest. Adding to the existing literature we report a child with PDE who developed obstructive hydrocephalus during follow up.
Source: Pediatric Neurology - January 15, 2017 Category: Neurology Authors: Renu Suthar, Shiv Sajan Saini, Jitendra K. Sahu, Pratibha Singhi Tags: Correspondence Source Type: research

Obstructive Hydrocephalus in Pyridoxine-Dependent Epilepsy: An Uncommon Complication
Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive inherited disorder of lysine catabolism, which is characterized by a therapeutic response to pharmacologic  dosages of vitamin B6 and resistance to conventional antiepileptic treatment. We read recently the article by Van Karnebeek et al.1 describing expanding phenotypic spectrum of children with PDE with great interest. Adding to the existing literature, we report a child with PDE who developed obstru ctive hydrocephalus during follow-up.
Source: Pediatric Neurology - January 15, 2017 Category: Neurology Authors: Renu Suthar, Shiv S. Saini, Jitendra K. Sahu, Pratibha Singhi Tags: Correspondence Source Type: research

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

What Causes Macrocephaly?
Discussion “Macrocephaly is defined as [an occipitofrontal circumference or head circumference, OFC ] of > 2 standard deviations above the mean or above the 97th percentage for a given age, and gender, or when serial measurement shows progressive enlargement, crossing of one or more major percentiles, or when there is an increase in OFC > 2 cm/month in the first 6 months of life.” Megalencephaly is enlargement of the brain parenchyma. The OFC should be measured using a non-elastic tape which surrounds the head along the line of the glabella and posterior occipital protrusion. There are ethnic differences...
Source: PediatricEducation.org - May 20, 2019 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Prevalence of ocular morbidity in school going children in West Uttar Pradesh
Conclusion: This study was the first of its kind in West Uttar Pradesh, reporting a considerable high prevalence (29.35%) of pediatric ocular morbidity, which was more in rural as compared to the urban sector. Since most of this morbidity is either preventable or treatable, school screening forms an effective method to reduce this load.
Source: Indian Journal of Ophthalmology - June 23, 2017 Category: Opthalmology Authors: Veer Singh K P S Malik VK Malik Kirti Jain Source Type: research

Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases
Clinical Scenarios The test is designed both for preconception carrier testing of couples wishing to start a family and for molecular diagnosis in children suspected of being affected by a recessive childhood disease. The published (research) version of the test included 448 childhood recessive illnesses with severe clinical manifestations1. A revised panel is undergoing clinical validation for use as a laboratory developed test (LDT) with an intention of being offered via a laboratory regulated by the Clinical Laboratory Improvement Amendments (CLIA). The clinical panel contains 595 childhood recessive diseases that are d...
Source: PLOS Currents Evidence on Genomic Tests - May 2, 2012 Category: Genetics & Stem Cells Authors: stephenkingsmore Source Type: research

Cobalamin C Defect Presenting With Isolated Pulmonary Hypertension
We report a case of a young boy with cblC defect, who did not undergo newborn screening, presenting at the age of 2 years with isolated pulmonary hypertension as the leading symptom. This novel way of presentation of cblC defect enlarges the spectrum of inherited diseases that must be considered in the differential diagnosis of pulmonary hypertension.
Source: PEDIATRICS - July 1, 2013 Category: Pediatrics Authors: Iodice, F. G., Di Chiara, L., Boenzi, S., Aiello, C., Monti, L., Cogo, P., Dionisi-Vici, C. Tags: Case Report Source Type: research

Medical findings in an interdisciplinary geriatric outpatient clinic specialising in falls.
Abstract BACKGROUND Falls are common among elderly people, leading to increased morbidity and reduced quality of life. A broad-based interdisciplinary study, for example in an outpatient clinic specialising in falls, has been recommended in light of the multiple and complex causes that tend to be involved. At present there are few outpatient clinics in Norway specialising in falls, and no data from such studies have yet been published.MATERIAL AND METHOD The information stems from 111 patients at the Fallpoliklinikken, Oslo University Hospital, from its establishment in 2008 until 2011. An interdisciplinary study ...
Source: Tidsskrift for den Norske Laegeforening - April 1, 2014 Category: Journals (General) Authors: Smebye KL, Granum S, Wyller TB, Mellingsæter M Tags: Tidsskr Nor Laegeforen Source Type: research

Vitamin D and white matter abnormalities in older adults: a cross‐sectional neuroimaging study
ConclusionsLower serum 25OHD concentration was associated with higher grade of WMA, particularly periventricular WMA. These findings provide a scientific basis for vitamin D replacement trials.
Source: European Journal of Neurology - July 10, 2014 Category: Neurology Authors: C. Annweiler, T. Annweiler, R. Bartha, F. R. Herrmann, R. Camicioli, O. Beauchet Tags: Original Article Source Type: research

Doctor's Diary: Doctors have to ensure that patients are aware of all the risks
The recent Supreme Court ruling on doctors' duty of care will lead to a rise in medical negligence cases; low levels of vitamin D have been linked to mental illness and giving up apples may help ease pain
Source: The Telegraph : Health Advice - March 30, 2015 Category: Consumer Health News Tags: Nadine Montgomery gin and raisins Doctor's Diary Dina McLellan hydrocephalus vitamin D apples James Le Fanu cerebral palsy medical paternalism Source Type: news

Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease.
Abstract Pantothenate Kinase Associated Neurodegeneration (PKAN) is an autosomal recessive disorder with mutations in the pantothenate kinase 2 gene (PANK2), encoding an essential enzyme for Coenzyme A (CoA) biosynthesis. The molecular connection between defects in this enzyme and the neurodegenerative phenotype observed in PKAN patients is still poorly understood. We exploited the zebrafish model to study the role played by the pank2 gene during embryonic development and get new insight into PKAN pathogenesis. The zebrafish orthologue of hPANK2 lies on chromosome 13, is a maternal gene expressed in all developmen...
Source: Neurobiology of Disease - October 14, 2015 Category: Neurology Authors: Zizioli D, Tiso N, Guglielmi A, Saraceno C, Busolin G, Giuliani R, Khatri D, Monti E, Borsani G, Argenton F, Finazzi D Tags: Neurobiol Dis Source Type: research

Large Amplitude Cortical Evoked Potentials in Nonepileptic Patients. Reviving an Old Neurophysiologic Tool to Help Detect CNS Pathology
Conclusions: This study supports the notion that large amplitude EP implies CNS hyperexcitability and CNS disease. These results confirm the utility of EP studies in patients with suspected CNS pathology.
Source: Journal of Clinical Neurophysiology - December 31, 2016 Category: Neurology Tags: Original Research Source Type: research

Re: “Professional Senescence”
I read Lexa and Fessell ’s [1] article concerning the decline of work quality in an older colleague. I would like to offer a suggestion that might help many groups with this difficult situation. Although the issue may indeed be related to aging, as a physician, I am disappointed that the first action recommended, a fter peer review confirmed the issue, was not a medical consultation to exclude reversible or treatable conditions before removing the physician. I would suggest that he be approached by a friend or his closest colleague and encouraged to undergo a medical workup to determine why he isn’t as s harp...
Source: Journal of the American College of Radiology : JACR - December 31, 2016 Category: Radiology Authors: C. Frank Tranisi Tags: Department Source Type: research