Results 91 to 100 of about 14,238 (246)
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
Neonatal cardiac hypertrophy: the role of hyperinsulinism—a review of literature
European Journal of Pediatrics, 2019 Hypertrophic cardiomyopathy (HCM) in neonates is a rare and heterogeneous disorder which is characterized by hypertrophy of heart with histological and functional disruption of the myocardial structure/composition.
N. D. Paauw +5 more
semanticscholar +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
Insulino-resistência e aterosclerose.
Acta Médica Portuguesa, 2000 The western way of life favours the development of a state of insulin resistance, in genetically predisposed subjects. In this state, greater levels of insulin are necessary so that an answer can be obtained and, consequently, hyperinsulinism occurs ...
J S Nunes, L G Correia, J N Corrêa
doaj +1 more source
The Journal of Physiology, Volume 602, Issue 24, Page 6613-6629, 15 December 2024.Abstract figure legend Food enters the gastrointestinal tract and causes release of the two incretin hormones, glucose‐dependent insulinotropic polypeptide (GIP) and glucagon‐like peptide 1 (GLP‐1). Most GIP reaches the systemic circulation and thus stimulates insulin secretion from the pancreas, but most GLP‐1 is inactivated by the enzyme dipeptidyl ...
Jens Juul Holst
wiley +1 more source
Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism
The Journal of Pathology: Clinical Research, 2019 Congenital hyperinsulinism (CHI) causes dysregulated insulin secretion which can lead to life‐threatening hypoglycaemia if not effectively managed. CHI can be sub‐classified into three distinct groups: diffuse, focal and mosaic pancreatic disease. Whilst
J. Houghton +10 more
semanticscholar +1 more source
46‐kg abdominal tumor misdiagnosed as obesity: Unveiling healthcare bias due to obesity stigma
Clinical Case Reports, Volume 12, Issue 11, November 2024.Key Clinical Message Obesity results in higher risk of some cancers while obesity stigma affect patient's quality of care. In this case report, a 46 kg ovary mass was misdiagnosed as severe obesity. Obesity stigma awareness and a sustained effort from healthcare professionals are required to deliver adequate patient care to patients with obesity ...
Giacomo Calini +3 more
wiley +1 more source
Quo vadis ureagenesis disorders? A journey from 90 years ago into the future
Journal of Inherited Metabolic Disease, Volume 47, Issue 6, Page 1120-1128, November 2024.Abstract The pathway of ammonia disposal in the mammalian organism has been described in 1932 as a metabolic cycle present in the liver in different compartments. In 1958, the first human disorder affecting this pathway was described as a genetic condition leading to cognitive impairment and constant abnormalities of amino acid metabolism.
Johannes Häberle +2 more
wiley +1 more source
Congenital hyperinsulinism with hyperammonaemia
Case Reports, 2010 Congenital hyperinsulinism is considered to be the most frequent cause of persistent recurrent hypoglycaemia in infants. The clinical presentation and response to pharmacological treatment may vary significantly depending on the underlying pathology. We report a case of a female infant with mild but early onset of recurrent hypoglycaemia.
Hubert Fahnenstich +2 more
openaire +4 more sources
Medical Journal of BabylonBackground: Congenital hyperinsulinism (CHI) is an inappropriate insulin secretion by the pancreatic cells. When medical therapies are ineffective, surgical treatment is required. Objective: This study aims to evaluate the clinical characteristics of CHI
Munib Ahmed Al-Zubaidi +2 more
doaj +1 more source