Results 41 to 50 of about 133,052 (292)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source
Febrile Convulsions and Congenital Hypothyroidism
Pediatric Neurology Briefs, 1998 The incidence of febrile convulsions (FCs) among 63 children with congenital hypothyroidism (CH) was compared to that of control children and patient’s siblings in a study at Niigata University, Japan.
J Gordon Millichap
doaj +1 more source
British Journal of Clinical Pharmacology, EarlyView.Background Information on mitoxantrone pharmacokinetics in children is lacking and reduced dosing regimens applied to infants are supported by limited scientific rationale. The current study characterized mitoxantrone pharmacokinetics in a childhood acute myeloid leukaemia patient population and provides a data‐informed assessment of dosing.
Andrew M. Brandon +13 more
wiley +1 more source
Risk factors for transition of febrile convulsions to epilepsy
Неврология, нейропсихиатрия, психосоматика, 2015 Object: to assess a relationship between febrile convulsions (FC) and epilepsy. Patients and methods. The role of perinatal hereditary diseases, a family history of FC and epilepsy, as well as clinical findings and the results of supplementary studies ...
A. F. Dolinina +2 more
doaj +1 more source
Evaluation of Coronavirus Disease 2019-Positive Patients with Febrile Convulsions
Archives of Epilepsy, 2022 Objective:Febrile convulsion is a common seizure type in children between 6 months and 6 years of age and is seen in 2%-5% of children.1 Coronavirus disease 2019 spread rapidly and became a pandemic.
Rabia Tütünce Toker, Aylin Bican Demir
doaj +1 more source
Developmental evaluation in children experiencing febrile convulsions
The Turkish Journal of Pediatrics, 2021 Background. The objective of this study was to determine the effect of febrile convulsion (FC) on neuromotor development. Methods. Data of 325 patients, who were followed up at our outpatient clinic and diagnosed with FC between January ...
Rojan İpek +6 more
doaj +1 more source
Infection Risk From Humans and Animals in the Anatomy Laboratory: A Scoping Review
Clinical Anatomy, EarlyView.ABSTRACT Whole‐body dissection is a cornerstone of anatomy education. During and following the COVID‐19 pandemic, exposure to infectious agents and other risks of dissection were highlighted. To identify potential risks, one must have the data outlining these risks in specific situations.
Margaret A. McNulty, Elizabeth R. Agosto
wiley +1 more source
Risk Factors for Recurrent Febrile Convulsions in Children
مجله كليه طب الكندي, 2013 Background: Febrile convulsions are the most frequent type of seizures in children under 6 years of age. Significant percentage of these children will later suffer from recurrence of febrile convulsion.Objectives: To identify the main risk factors for ...
Yusra Fayyadh Alwan +1 more
doaj
Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi +6 more
wiley +1 more source
Mild Viral Gastroenteritis and Afebrile Seizures
Pediatric Neurology Briefs, 2007 Ictal electroencephalograms (EEGs) were recorded in six patients (2 male, 4 female; ages 14 mo to 38 mo) with afebrile convulsions and mild gastroenteritis (CwG), in a study at Nagoya, Japan. None had febrile convulsions.
J Gordon Millichap
doaj +1 more source