Results 21 to 30 of about 510,633 (288)

Siblings With HNF4A Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism. [PDF]

JCEM Case Rep, 2023
Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in early infancy. Mutations in the gene for heterozygous hepatocyte nuclear transcription factor 4-alpha (HNF4A) account for approximately 5% of cases and are inherited in an ...
Wolschendorf R, Eimicke T, Swartz J.
europepmc   +2 more sources

Congenital hyperinsulinism in a newborn presenting with poor feeding [PDF]

SAGE Open Medical Case Reports, 2022
Hyperinsulinemic hypoglycemia is a condition linked to several genetic, metabolic, and growth disorders in which there is dysregulated insulin secretion.
Kiran Mazloom, Pedro A Sanchez-Lara, Seth Langston, Katheryn Grand, Bahareh Schweiger   +4 more
doaj   +2 more sources

Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability. [PDF]

Int J Mol Sci
Congenital hyperinsulinism (CHI) is a rare disorder of glucose metabolism and is the most common cause of severe and persistent hypoglycemia (hyperinsulinemic hypoglycemia, HH) in the neonatal period and childhood.
Butnariu LI, Bizim DA, Păduraru G, Păduraru L, Moisă ȘM, Popa S, Gimiga N, Ghiga G, Bădescu MC, Lupu A, Vasiliu I, Trandafir LM.   +11 more
europepmc   +2 more sources

Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism. [PDF]

Curr Opin Pediatr, 2023
Purpose of review To highlight advances in congenital hyperinsulinism (HI), including newly described molecular mechanisms of disease, novel therapeutic interventions, and improved understanding of long-term outcomes.
Rosenfeld E, De León DD.
europepmc   +2 more sources

Diazoxide toxicity in congenital hyperinsulinism: A case report.

World J Clin Pediatr
BACKGROUND Diazoxide is the sole approved drug for congenital hyperinsulinism; however, diuretic administration and vigilant monitoring are crucial to prevent and promptly identify potentially life-threatening adverse effects.
Pajno R, Visconti C, Bucolo C, Guarneri MP, Del Barba P, Silvani P, Gregnanin M, Barera G.   +7 more
europepmc   +2 more sources

Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.

J Clin Endocrinol Metab
Context Hyperinsulinemic hypoglycemia (HI) can be the presenting feature of Kabuki syndrome (KS), which is caused by loss-of-function variants in KMT2D or KDM6A.
Männistö JME, Hopkins JJ, Hewat TI, Nasser F, Burrage J, Dastamani A, Mirante A, Murphy N, Rzasa J, Kerkhof J, Relator R, Johnson MB, Laver TW, Weymouth L, Houghton JAL, Wakeling MN, Sadikovic B, Dempster EL, Flanagan SE.   +18 more
europepmc   +2 more sources

Case report: Pylorus-preserving pancreatoduodenectomy for focal congenital hyperinsulinism in a 5-month-old baby. [PDF]

Front Surg, 2022
Background In focal congenital hyperinsulinism (CHI), surgery is the gold standard of treatment, even for lesions localized in the head of the pancreas.
Spagnoletti G, Larghi Laureiro Z, Maria Fratti A, Maiorana A, Garganese MC, Pizzoferro M, Dionisi-Vici C, Spada M.   +7 more
europepmc   +2 more sources

Congenital hyperinsulinism: current status and future perspectives [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2014
The diagnosis and treatment of congenital hyperinsulinism (CHI) have made a remarkable progress over the past 20 years and, currently, it is relatively rare to see patients who are left with severe psychomotor delay.
Tohru Yorifuji
doaj   +3 more sources

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity [PDF]

Genome Medicine
Background We recently reported non-coding variants in a cis-regulatory element of the beta-cell disallowed gene hexokinase 1 (HK1) as a novel cause of congenital hyperinsulinism.
Jasmin J. Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M. E. Männistö, Jayne A. L. Houghton, Susann Empting, Matthew B. Johnson, Thomas W. Laver, Jonathan M. Locke, Benjamin Spurrier, Matthew N. Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange, International Congenital Hyperinsulinism Consortium, Klaus Mohnike, Jean-Baptiste Arnoux, Nick D. L. Owens, Martin Zenker, Christine Bellanné-Chantelot, Sarah E. Flanagan   +22 more
doaj   +2 more sources

Families' Experiences of Continuous Glucose Monitoring in the Management of Congenital Hyperinsulinism: A Thematic Analysis. [PDF]

Front Endocrinol (Lausanne), 2022
Background and Aims In patients with congenital hyperinsulinism (CHI), recurrent hypoglycaemia can lead to longstanding neurological impairments. At present, glycaemic monitoring is with intermittent fingerprick blood glucose testing but this lacks ...
Auckburally SH, Worth C, Salomon-Estebanez M, Nicholson J, Harper S, Nutter PW, Banerjee I.   +6 more
europepmc   +2 more sources