Results 51 to 60 of about 4,191 (204)

Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy patient

Orphanet Journal of Rare Diseases, 2017
We have recently published on the limited effectiveness of sirolimus as a treatment option for hypoglycaemia as a consequence of hyperinsulinism. Our data oppose the view that mTOR inhibitors provide new opportunities for the treatment of patients with ...
Indraneel Banerjee, Diva De Leon, Mark J. Dunne   +2 more
doaj   +1 more source

A Case Series: Congenital Hyperinsulinism [PDF]

International Journal of Endocrinology and Metabolism, 2016
Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism.
Alaei, Mohammad Reza, Akbaroghli, Susan, Keramatipour, Mohammad, Alaei, Ali   +3 more
openaire   +2 more sources

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

Severe transient neonatal hyperinsulinism: First Peruvian case series

SAGE Open Medical Case Reports
Congenital hyperinsulinism is characterized by dysregulated insulin secretion and is the most common and severe cause of persistent hypoglycemia in pediatrics. Brain damage rates can be as high as 50% due to inadequate treatment.
Manuel André Virú-Loza, Francesca Bermudez-Paredes, Isabel Milagros Arauco-Carhuas   +2 more
doaj   +1 more source

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)

JIMD Reports, Volume 66, Issue 6, November 2025.
ABSTRACT Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of lipoic acid.
Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, Mara Doimo, Marianna Caterino, Christian Loro, Chiara Cazzorla, Margherita Ruoppolo, Leonardo Salviati, Alberto B. Burlina   +9 more
wiley   +1 more source

Congenital hyperinsulinism in Gran Canaria, Canary Isles

Anales de Pediatría (English Edition), 2021
Introduction: Congenital hyperinsulinism (CH) is a severe disorder characterised by the appearance of severe hypoglycaemia. Pathogenic mutations in the ABCC8 and KCNJ11 genes are the most frequent cause, although its appearance also been associated to ...
Yeray Nóvoa-Medina, Angela Domínguez García, Sofía Quinteiro González, Loida María García Cruz, Alfredo Santana Rodríguez   +4 more
doaj   +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

Molecular mechanisms of congenital hyperinsulinism [PDF]

Journal of Molecular Endocrinology, 2015
Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion from pancreatic β-cells is unregulated and inappropriate for the level of blood glucose. The inappropriate insulin secretion drives glucose into the insulin-sensitive tissues, such as the muscle, liver and adipose tissue, leading to severe hyperinsulinaemic
Sofia A, Rahman, Azizun, Nessa, Khalid, Hussain   +2 more
openaire   +2 more sources

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