Results 41 to 50 of about 1,403 (143)
An overview of current prenatal genetic screening and diagnosis guidelines
Pregnancy, Volume 1, Issue 3, May 2025.Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli +3 more
wiley +1 more source
A case of neonatal persistent hyperinsulinemichypoglycemia
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, 2022 Neonatal hypoglycemia (NH) is a common and important cause of morbidity in newborns. The most common cause of NH is congenital hyperinsulinism (CHI), a phenotypical and genotypical heterogeneous condition characterized by inappropriate insulin secretion.
Mauro Iannelli +8 more
doaj +1 more source
Congenital anomalies from a physics perspective. The key role of "manufacturing" volatility [PDF]
, 2019 Genetic and environmental factors are traditionally seen as the sole causes of congenital anomalies. In this paper we introduce a third possible cause, namely random "manufacturing" discrepancies with respect to ``design'' values. A clear way to demonstrate the existence of this component is to ``shut'' the two others and to see whether or not there is
arxiv +1 more source
Clinical Genetics, Volume 107, Issue 3, Page 364-365, March 2025.Loss‐of‐function ABCC8 variants are the commonest cause of congenital hyperinsulinism. On a systematic search of our databases, the p.(Gly111Arg) ABCC8 variant was identified in 26 individuals, of which 23 were from the Indian Agarwal community. Haplotype analysis subsequently confirmed that p.(Gly111Arg) is a founder variant in the Agarwal population.
Vandana Jain +5 more
wiley +1 more source
Congenital hyperinsulinism and panhypopituitarism: a rare combination
Endocrinology, Diabetes & Metabolism Case Reports, 2023 Neonatal hypoglycemia is a serious condition that can have a major impact on the growing neonatal brain. The differential diagnosis of neonatal hypoglycemia is broad and includes hyperinsulinism as well as panhypopituitarism.
Foram Patel, Ginger Darling, Ahmed Torky
doaj +1 more source
Insulin Autoimmune Syndrome: A Chinese Expert Consensus Statement
AGING MEDICINE, Volume 8, Issue 1, February 2025.ABSTRACT Insulin autoimmune syndrome (IAS) is a rare autoimmune disorder characterized by spontaneous hypoglycemia. The incidence of IAS is higher in East Asian populations compared to other populations. Delayed diagnosis and treatment can lead to recurrent hypoglycemia, significant glucose fluctuations, and adverse clinical outcomes, including life ...
Huabing Zhang, Ming Xia Yuan, Qi Pan
wiley +1 more source
MAGEL2 (patho‐)physiology and Schaaf–Yang syndrome
Developmental Medicine &Child Neurology, Volume 67, Issue 1, Page 35-48, January 2025.Pathogenic variants in MAGEL2 cause Schaaf–Yang syndrome (SYS). MAGEL2 has diverse physiological functions, particularly in the human hypothalamus. Loss of function likely explains several SYS phenotypes. In addition it has become evident that neomorphic effects of truncated MAGEL2 proteins likely contribute to the severity of this complex ...
Tim Schubert, Christian P. Schaaf
wiley +1 more source
Learning normal appearance for fetal anomaly screening: Application to the unsupervised detection of Hypoplastic Left Heart Syndrome [PDF]
arXiv, 2020 Congenital heart disease is considered as one the most common groups of congenital malformations which affects $6-11$ per $1000$ newborns. In this work, an automated framework for detection of cardiac anomalies during ultrasound screening is proposed and evaluated on the example of Hypoplastic Left Heart Syndrome (HLHS), a sub-category of congenital ...
arxiv
A Primer on Computational Simulation in Congenital Heart Disease for the Clinician [PDF]
Progress in Pediatric Cardiology 30, 1-2 (2010) 3-13, 2010 Interest in the application of engineering methods to problems in congenital heart disease has gained increased popularity over the past decade. The use of computational simulation to examine common clinical problems including single ventricle physiology and the associated surgical approaches, the effects of pacemaker implantation on vascular occlusion,
arxiv +1 more source
American Journal of Medical Genetics Part A, Volume 194, Issue 12, December 2024.Abstract Simpson‐Golabi‐Behmel syndrome (SGBS) is a rare congenital overgrowth condition characterized by macrosomia, macroglossia, coarse facial features, and development delays. It is caused by pathogenic variants in the GPC3 gene on chromosome Xq26.2.
Alex F. Nisbet +13 more
wiley +1 more source