Results 71 to 80 of about 245,105 (180)

Congenital Hyperinsulinism: A Novel Mutation in the KCNJ11 Gene

, 2017
Introduction Hyperinsulinism is the most common cause of both transient and persistent hypoglycemia in the neonatal period. Hyperinsulinism due to mutations in the ATP-sensitive potassium channel encoded by the KCNJ11 and ABCC8 genes cause the most ...
Flanagan, Sarah E., Bala, Keziban Asli, Demir, Nihat, Kocaman, Selami, Tuncer, Oğuz   +4 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Familial Focal Congenital Hyperinsulinism [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2011
Background:Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia. Histologically, there are two subgroups, diffuse and focal. Focal CHI is a consequence of two independent events, inheritance of a paternal mutation in ABCC8/KCNJ11 and paternal uniparental isodisomy of chromosome 11p15 within the embryonic pancreas, leading to an ...
Ismail, Dunia, Smith, Virpi V., de Lonlay, Pascale, Ribeiro, Maria-Joao, Rahier, Jacques, Blankenstein, Oliver, Flanagan, Sarah E., Bellanné-Chantelot, Christine, Verkarre, Virginie, Aigrain, Yves, Pierro, Agostino, Ellard, Sian, Hussain, Khalid   +12 more
openaire   +2 more sources

The surgical management of atypical forms of congenital hyperinsulinism

, 2011
Beyond the 2 classical forms of congenital hyperinsulinism, focal and diffuse, we report our experience on the surgical treatment of atypical forms. We define 2 subtypes among these atypical forms of hyperinsulinism: in case of a giant focal form the ...
Aigrain, Yves, Jacques Rahier, de Lonlay, Pascale, Verkarre, Virginie, Jaubert, Francis, Capito, Carmen, Carmen Capito, Virginie Verkarre, Yves Aigrain, Francis Jaubert, Rahier, Jacques, Pascale de Lonlay, Nihoul-Fékété, Claire, Claire Nihoul-Fékété   +13 more
core   +1 more source

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source

Transjugular Leadless Pacemaker Implantation in an Adolescent With Central Hypoventilation Syndrome: A Case Report

Pacing and Clinical Electrophysiology, Volume 49, Issue 5, Page 606-609, May 2026.
ABSTRACT Background Permanent pacing in pediatric patients is complicated by small body size, vascular access limitations, and the need for durable long‐term management. Leadless pacemakers offer an emerging alternative that minimizes infection and lead‐related complications, yet vascular access remains a key challenge in young patients.
Marzia Giaccardi, Gulio Porcedda, Zaccaria Ricci, Hendrik Bonnemeier, Benito Baldauf   +4 more
wiley   +1 more source

Contrasting Effects of Chronic Glucokinase Activation and Inhibition on Pancreatic Beta‐Cell Function

The FASEB Journal, Volume 40, Issue 7, 15 April 2026.
In the non‐diabetic beta‐cell (top left) activation of glucokinase (bottom left) leads to inhibition of mitochondrial metabolism and thereby impairs insulin secretion. The effect is similar to that of chronic hyperglycaemia as seen in the diabetic beta‐cell (top right).
Matthew Lloyd, Natascia Vedovato, Samuel J. Mullan, Alice Elphick, Aerin J. Dumenil, Chantal Rufer, Alexandra C. Title, Burcak Yesildag, Elizabeth Haythorne, Frances M. Ashcroft   +9 more
wiley   +1 more source

Laparoscopic resection of pancreatic neck lesion with Roux-en-Y pancreatico-jejunostomy

Journal of Pediatric Surgery Case Reports, 2019
Background: Congenital hyperinsulinism is a rare disease and patients not responding to medical treatment need near-total or partial pancreatectomy, dependent on whether they have diffuse or focal hyperinsulinism, respectively.
Martin Sidler, Pratik Shah, Michael Ashworth, Paolo De Coppi   +3 more
doaj   +1 more source

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family

Protein Science, Volume 35, Issue 4, April 2026.
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer, Phoebe J. Leeming, Diana Stojanovski   +2 more
wiley   +1 more source

Recurrent Hypoglycemia in Two Late‐Preterm Infants With Transitional Disorder of Glucose Mobilization—Case Series

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Timeline of events. ABSTRACT Great emphasis is placed upon addressing hyperinsulinism in at‐risk infants with recurrent hypoglycemia. We report two preterm infants with recurrent nonhyperinsulinemic hypoglycemia due to transient impairment of glucose mobilization, warranting diazoxide use.
Suresh Chandran, Yu Shan Ting, Skanthakumar Abhirami, Fabian Yap   +3 more
wiley   +1 more source