Results 231 to 240 of about 251,940 (297)

Cortisol Cutoffs for Adrenal Insufficiency Using Elecsys II: A Systematic Review

Clinical Endocrinology, EarlyView.
ABSTRACT Objective Adrenal insufficiency (AI) is associated with increased risk of morbidity and mortality if improperly managed. Adrenocorticotrophin (ACTH) stimulation testing is the most widely used AI diagnostic test. Historically, a serum cortisol threshold of 500 nmol/L (18.1 µg/dL), derived using polyclonal assays, was widely used.
Sarah Haunton, Nicola Leppinen, Heather MacDonald, Rebecca A. Tobin, Raoul Rooman, Leanne M. Ward, Alexandra Ahmet, Utkarsh J. Dang   +7 more
wiley   +1 more source

Endoscopic Ultrasound‐Guided Ethanol Ablation for Benign Insulinoma: A Single‐Centre Experience and Literature Review

Clinical Endocrinology, EarlyView.
ABSTRACT Objectives Insulinoma is a predominantly benign pancreatic neuroendocrine tumour that is traditionally managed surgically. However, surgical invasiveness and anaesthesia‐related risks limit its applicability in selected patients. Endoscopic ultrasound (EUS)‐guided ethanol ablation has emerged as a minimally invasive alternative.
Yuchao Wu, Haitao Shi, Xiaokang Wu, Ying Kong, Xueqian Li, Lijing Yan, Juanjuan Wu, Shimei Ding, Jing Zhang, Ruo Zhang, Chunhong Zhang, Jing Xu, Aiyu Jing, Xuan Xie, Shiyang Ma, Yang Jiao   +15 more
wiley   +1 more source

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series

Clinical Genetics, EarlyView.
Genetic testing leads to a diagnostic rate of ~30% in a fetal cohort with cerebral ventriculomegaly where the neuropathological examination revealed a stenosis or atresia of the aqueduct of Sylvius. ABSTRACT Fetal cerebral ventriculomegalies are brain anomalies with potentially poor neurodevelopmental prognosis.
Romain Nicolle, Laurence Loeuillet, Bettina Bessieres, Lucile Boutaud, Sarah Grotto, Nicolas Bourgon, Maryse Bonniere, Jelena Martinovic, Aude Tessier, Nathalie Roux, Giulia Petrilli, Naima Talhi, Marion Lesieur‐Sebellin, Jérémy Bertrand, Anaïs L'haridon, Aurélie Coussement, Marie‐Laure Maurin, Marie‐Paule Beaujard, Valérie Malan, Férechté Razavi, Tania Attie‐Bitach   +20 more
wiley   +1 more source

Glucocorticoids and HPA axis regulation in the stress–obesity connection: A comprehensive overview of biological, physiological and behavioural dimensions

Clinical Obesity, Volume 15, Issue 2, April 2025.
Summary Chronic stress, characterized by increased long‐term exposure to the glucocorticoid hormone cortisol, is increasingly linked to obesity development. Still, various knowledge gaps persist, including on underlying pathophysiological mechanisms. The aim of the current review is to provide the latest insights on the connection between stress and ...
Robin Lengton, Myrte Schoenmakers, Brenda W. J. H. Penninx, Mariëtte R. Boon, Elisabeth F. C. van Rossum   +4 more
wiley   +1 more source

Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia

Developmental Medicine &Child Neurology, EarlyView.
Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia. Abstract The presence of a small optic disc on funduscopy is prerequisite for the diagnosis of optic nerve hypoplasia (ONH). Visual acuity may be normal. However, amblyopia can occur in ONH. A relative afferent pupillary light defect indicates unilateral or asymmetrical ONH.
Michael S. Salman
wiley   +1 more source

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

Diabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang, KangChun Xu, PengFei Liu, Bin Wang, Yan Yang, ShanZhai Wei   +5 more
wiley   +1 more source