Results 61 to 70 of about 3,174 (161)

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

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

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition‐Related Hyperammonemia

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hyperammonemia is a medical emergency, and the cause must be identified quickly in order to treat appropriately. Malnutrition is a known risk factor for hyperammonemia; however, there are limited reliable lab indicators used to identify malnutrition.
M. M. Crenshaw, O. M. D'Annibale, V. Martucci, S. Gracie, A. Kochhar, J. Stansauk, A. Larson, P. Baker II, C. Peck, T. Wood, A. El‐Gharbawy, S. McCandless, M. K. LoPiccolo   +12 more
wiley   +1 more source

Clinical Trial: Efficacy and Safety of Velusetrag in Chronic Intestinal Pseudo‐Obstruction: A Randomized, Phase 2, Placebo‐Controlled, Crossover, Multiple (n = 1), Proof‐of‐Concept Study

Neurogastroenterology &Motility, Volume 38, Issue 1, January 2026.
This phase 2 proof‐of‐concept trial evaluated the efficacy and safety of velusetrag in patients with chronic intestinal pseudo‐obstruction. Velusetrag treatment was generally well tolerated and was associated with improved symptoms and a reduction in pseudo‐obstructive episodes versus placebo, although these differences did not reach statistical ...
Carolina Malagelada, Roberto De Giorgio, Rosanna Francesca Cogliandro, Luis Alcalá‐González, Anna Costanzini, Valeria Scuderi, Sara Manzoni, Elena Pasquali, Jan Tack, Vincenzo Stanghellini   +9 more
wiley   +1 more source

Coexisting ADAR and TSHB Mutations in an Infant With Retinal Detachment and Transient Cardiomyopathy

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Background Central congenital hypothyroidism (C‐CH) due to thyroid‐stimulating hormone beta (TSHB) variants is rare and often missed by thyroid‐stimulating hormone (TSH)–based neonatal screening. Adenosine deaminase acting on RNA (ADAR)‐related Aicardi–Goutières syndrome type 6 (AGS6) is an interferonopathy with early‐onset encephalopathy.
Tamer Draidi, Mohammad Khalil, Abed Kabaha, Rafat Zuriqi, Mohammad Masu’d, Osamu Isozaki   +5 more
wiley   +1 more source

A tale of two sisters – delayed diagnosis of genetic hyperinsulinaemic hypoglycaemia

Endocrinology, Diabetes & Metabolism Case Reports
Congenital hyperinsulinism is the leading cause of persistent hypoglycaemia in infants and children; however, it is uncommon to be diagnosed in adulthood. We describe the cases of two sisters who presented with hyperinsulinaemic hypoglycaemia aged 47 and
F Stringer, C Preston, R MacIsaac, F Inchley, L Rivera-Woll, S Farrell, Sachithanandan   +6 more
doaj   +1 more source

Exercise-induced hyperinsulinism: genetic basis and clinical management

中国当代儿科杂志
Exercise-induced hyperinsulinism, also known as monocarboxylate transporter 1 hyperinsulinemia, is a rare subtype of congenital hyperinsulinism caused by gain-of-function variants in the SLC16A1 gene, which encodes monocarboxylate transporter 1.
ZHANG Qi-Ting, HOU Ling
doaj   +1 more source

Neonatal Outcomes Among Neonates of Women With and Without Type 1 Diabetes in Sweden From 2010 to 2022

Acta Paediatrica, Volume 114, Issue 12, Page 3191-3198, December 2025.
Neonatal outcomes among neonates of women with and without type 1 diabetes in Sweden from 2010 to 2022 by Goldberg A. et al. ABSTRACT Aim This register‐based study aimed to investigate differences in adverse neonatal outcomes between neonates born to mothers with and without type 1 diabetes in Sweden.
Alexandra Goldberg, Eva Wiberg‐Itzel, Joanna Tingström, Cecilia Ekéus   +3 more
wiley   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

The diagnosis and management of congenital and adult-onset hyperinsulinism (nesidioblastosis) – literature review

Polish Journal of Pathology, 2017
Congenital and adult-onset hyperinsulinism (CHI) must be taken under consideration in the differential diagnosis of hypoglycaemia symptoms with endogenous hyperinsulinism, especially in cases in which there was failure to find an insulinoma. Histological
Adam M. Kowalewski, Łukasz Szylberg, Anna Kasperska, Andrzej Marszałek   +3 more
doaj   +1 more source