Eli Hershkovitz
YOU?
Author Swipe
Assessment of Long-Term Knowledge Retention in Children with Type 1 Diabetes and Their Families: A Pilot Study Open
Background: The education process for newly diagnosed Type 1 diabetes mellitus (T1D) patients and their families, primarily led by diabetes specialist nurses, is essential for gaining knowledge about the disease and its management. However…
The natural history of dihydrolipoamide dehydrogenase deficiency in Israel Open
Dihydrolipoamide dehydrogenase (DLD) deficiency is an ultra‐rare autosomal‐recessive inborn error of metabolism, affecting no less than five mitochondrial multienzyme complexes. With approximately 30 patients reported to date, DLD deficien…
Editorial: Endocrine dysfunction in patients with Down syndrome Open
Citation: Hershkovitz E and Strich D (2023) Editorial: Endocrine dysfunction in patients with Down syndrome. Front. Endocrinol. 14:1336637. doi: 10.3389/fendo.2023.1336637
651. Implementing a Multiplex-PCR Test for the Diagnosis of Acute Gastroenteritis in Hospitalized Children, Are All Enteric Viruses the Same? Open
Background Multiplex-PCR for the diagnosis of acute gastroenteritis (AGE) has allowed for rapid detection of multiple pathogens simultaneously but poses challenges in distinguishing between shedding and disease-causing pathogens. We aimed …
The role of anion gap normalization time in the management of pediatric diabetic ketoacidosis Open
Introduction Our aims were to determine whether anion gap normalization time (AGNT) correlates with risk factors related to the severity of diabetic ketoacidosis (DKA) in children, and to characterize AGNT as a criterion for DKA resolution…
View article: Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred
Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred Open
Familial non-medullary thyroid cancer (FNMTC) is a well-differentiated thyroid cancer (DTC) of follicular cell origin in two or more first-degree relatives. Patients typically demonstrate an autosomal dominant inheritance pattern with inco…
Hereditary orotic aciduria identified by newborn screening Open
Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmen…
Cover Image Open
The cover image is based on the Research Article Youth-onset type 2 diabetes in Israel: A national cohort by Nehama Zuckerman Levin et al., https://doi.org/10.1111/pedi.13351.
P450 oxidoreductase regulates barrier maturation by mediating retinoic acid metabolism in a model of the human BBB Open
The blood-brain barrier (BBB) selectively regulates the entry of molecules into the central nervous system (CNS). A crosstalk between brain microvascular endothelial cells (BMECs) and resident CNS cells promotes the acquisition of function…
Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center Open
Background Hypoparathyroidism, retardation, and dysmorphism (HRD) Syndrome is a rare disease composed of hypoparathyroidism, retardation of both growth and development, and distinctive dysmorphic features. Here, we describe the long-term m…
Delayed Neuropsychiatric Sequel Following Pediatric Carbon Monoxide Poisoning: A Case Report and Literature Review Open
Carbon monoxide (CO) poisoning is a serious health problem. The main pathophysiological mechanism of acute CO poisoning is hypoxia due to the formation of carboxyhemoglobin (COHb). Delayed neuropsychiatric sequel (DNPS) occurs following an…
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe Open
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a fatty acid and amino acid oxidation defect caused by a deficiency of the electron-transfer flavoprotein (ETF) or the electron-transfer flavoprotein dehydrogenase (ETFDH). There are thr…
Air pollution and meteorological conditions during gestation and type 1 diabetes in offspring Open
We showed that exposure to high ozone levels and solar radiation during gestation might be related to the T1D. More scientific evidence needs to accumulate to support the study findings.
The Effects of The COVID-19 Pandemic on Patients With Lysosomal Storage Disorders in Israel Open
Background- Severe acute respiratory syndrome coronavirus 2 (SARS CoV-2) is the causative agent of the current COVID-19 pandemic. Lysosomal storage disorders (LSD) comprise of 70 inherited inborn errors of metabolism. Affected individuals …
Generation of iPSC lines from two (BGUi002-A and BGUi003-A) homozygous p450 oxidoreductase-deficient patients and from one (BGUi001-A) heterozygous healthy family relative Open
p450 oxidoreductase (POR) cytochromes are enzymes involved in the metabolism of steroids and sex hormones, in which POR acts as an electron donor. Inactivating mutations in the POR gene cause diverse deficiencies. Access to patient samples…
View article: Once-Weekly Somapacitan vs Daily GH in Children With GH Deficiency: Results From a Randomized Phase 2 Trial
Once-Weekly Somapacitan vs Daily GH in Children With GH Deficiency: Results From a Randomized Phase 2 Trial Open
Context Daily growth hormone (GH) injections can be burdensome for patients and carers. Somapacitan is a long-acting, reversible albumin-binding GH derivative in development for once-weekly administration in patients with growth hormone de…
Acute Hyperglycemia may impair driving skills of young T1DM patients Open
Diabetic drivers are at increased risk to be involved in road crashes. While there is a large body of evidence regarding the effects of hypoglycemia on driving, very little is known about the effects of hyperglycemia on driving. The goal o…
Gamification Concepts to Promote and Maintain Therapy Adherence in Children with Growth Hormone Deficiency Open
Growth hormone (GH) deficiency affects up to one in 4000 children and is usually treated with daily injections of GH whilst the child is still growing. With children typically diagnosed at around five years old, this can mean over 10 years…
Gamification Concepts to Promote and Maintain Therapy Adherence in Children with Growth Hormone Deficiency Open
Growth hormone (GH) deficiency affects up to 1 in 4,000 children and is usually treated with daily injections of GH whilst the child is still growing. With children typically diagnosed around 5 years old, this can mean over 10 years of the…
Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with <i><span>TIMM50</span></i> mutations Open
Mitochondrial encephalopathies are a heterogeneous group of disorders that, usually carry grave prognosis. Recently a homozygous mutation, Gly372Ser , in the TIMM50 gene, was reported in an abstract form, in three sibs who suffered from in…