Results 91 to 100 of about 6,169 (207)

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

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG.
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava   +10 more
doaj   +1 more source

Assessing the consequences of gestational diabetes mellitus on offspring's cardiovascular health: MySweetHeart Cohort study protocol, Switzerland. [PDF]

, 2017
Gestational diabetes mellitus (GDM) is a state of glucose intolerance with onset during pregnancy. GDM carries prenatal and perinatal risks as well as long-term risks for the mother and her child.
Bovet, P., Chiolero, A., Di Bernardo, S., Epure, A.M., Estoppey Younes, S., Mivelaz, Y., Sekarski, N., Simeoni, U., Vial, Y.   +8 more
core   +1 more source

Bilateral Adrenal Mass Secondary to Bilateral Infantile Neuroblastoma in an Infant With Beckwith‐Wiedemann Syndrome

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Infants with Beckwith‐Wiedemann syndrome face a high risk of embryonal tumors, necessitating early and consistent surveillance. This case illustrates how timely imaging and biochemical monitoring enabled successful non‐surgical management of bilateral adrenal neuroblastoma.
Mulualeme Nigusie, Gashaw Arega, Abel Hailu, Abreham Kassahun, Getasew Fikad, Tigest Chalachew, Bargude Balta   +6 more
wiley   +1 more source

Variations of Steroid Hormone Metabolites in Serum and Urine in Polycystic Ovary Syndrome after Nafarelin Stimulation: Evidence for an Altered Corticoid Excretion. [PDF]

, 1995
To evaluate the clinical relevance of testing pituitary-ovarian responses in patients suffering from polycystic ovary syndrome (PCOS) with the GnRH agonist nafarelin, a 1.2-mg dose of nafarelin was given intranasally to 19 women with PCOS and 15 healthy ...
A. Lob, Burkhardt Moller, Cornelia H, Dieter Engelhardt, Karl Jacob, Michael M. Weber, Peter Luppa, Rainer Kimmig, Roger, Thomas Strowitzki   +9 more
core   +1 more source

The use of octreotide in pediatric patients: Practical applications for gastrointestinal disorders and beyond: A narrative review

Nutrition in Clinical Practice, Volume 40, Issue 5, Page 1040-1052, October 2025.
Abstract Somatostatin is a naturally occurring polypeptide hormone that exerts its effect on the gastrointestinal tract by reducing exocrine and endocrine secretion, resulting in decreased motility, gastric emptying, splanchnic blood flow, fat absorption, lymphatic flow, and gallbladder contraction.
Bailey Dunn, Megan Foxe, Kathy Hunter Sprott, Jessica E. Hook, Candi Jump   +4 more
wiley   +1 more source

Visual interpretation, not SUV ratios, is the ideal method to interpret 18F-DOPA PET scans to aid in the cure of patients with focal congenital hyperinsulinism.

PLoS ONE, 2020
IntroductionCongenital hyperinsulinism is characterized by abnormal regulation of insulin secretion from the pancreas causing profound hypoketotic hypoglycemia and is the leading cause of persistent hypoglycemia in infants and children.
Pradeep K Garg, Burton Putegnat, Lisa Truong, Courtney Reynolds, Irene Sanchez, Jonathan K Nedrelow, John Uffman, Stephen J Lokitz, Rachid Nazih, Sudha Garg, Paul S Thornton   +10 more
doaj   +1 more source

Gain of function mutants: Ion channels and G protein-coupled receptors [PDF]

, 2000
Many ion channels and receptors display striking phenotypes for gain-of-function mutations but milder phenotypes for null mutations. Gain of molecular function can have several mechanistic bases: selectivity changes, gating changes including constitutive
Karschin, Andreas, Lester, Henry A.
core   +1 more source

The Development of a Direct Homologous Radioimmunoassay for Serum Cortisol [PDF]

, 1981
Peer ...
Giesemann, G., Müller, O. A., Scriba, Peter Christian, Stalla, G., Wood, W. G.   +4 more
core   +2 more sources

Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review

Clinics and Practice, 2016
Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated ...
Hobia Gole, Raymond Chuk, David Coman
doaj   +1 more source