Results 51 to 60 of about 20,640 (292)

A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism [PDF]

open access: yes, 2017
Background/Aims: Congenital hyperinsulinism (CHI) is a rare disease characterized by recurrent severe hypoglycemia. In the diffuse form of CHI, pharmacotherapy is the preferred choice of treatment.
Banerjee, Indraneel   +10 more
core   +3 more sources

Neonatal Hyperinsulinism [PDF]

open access: yesTrends in Endocrinology & Metabolism, 1999
Hypoglycemia as a result of hyperinsulinism in the newborn (HI) is a clinically heterogeneous entity that presents a diagnostic and therapeutic challenge to the treating physician. Recent discoveries have shown that mutations in four different beta-cell genes cause HI.
, Glaser, , Landau, , Permutt
openaire   +4 more sources

Health-Related Quality of Life of Children and Adolescents With Congenital Hyperinsulinism – A Scoping Review

open access: yesFrontiers in Endocrinology, 2021
IntroductionDespite improvements in diagnosis and therapeutic advances in treatment, congenital hyperinsulinism (CHI) remains a severe disease with high patient impairment.
Kaja Kristensen   +2 more
doaj   +1 more source

Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

open access: yesHuman Mutation, 2020
The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the β‐cell ATP‐sensitive potassium channel, a key component of the glucose‐stimulated insulin secretion ...
E. De Franco   +19 more
semanticscholar   +1 more source

Tissue Sodium Content and Arterial Hypertension in Obese Adolescents [PDF]

open access: yes, 2019
Early-onset obesity is known to culminate in type 2 diabetes, arterial hypertension and subsequent cardiovascular disease. The role of sodium (Na+) homeostasis in this process is incompletely understood, yet correlations between Na+ accumulation and ...
Berger, Felix   +12 more
core   +3 more sources

Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism

open access: yesOrphanet Journal of Rare Diseases, 2021
Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI.
Wei Zhang, Yan-Mei Sang
doaj   +1 more source

Management and appropriate use of diazoxide in infants and children with hyperinsulinism.

open access: yesJournal of Clinical Endocrinology and Metabolism, 2020
BACKGROUND The diagnosis of hypoglycemia and the use of diazoxide have risen in the last decade. Diazoxide is the only FDA-approved pharmacologic treatment for neonatal hypoglycemia caused by hyperinsulinism (HI).
P. Brar   +11 more
semanticscholar   +1 more source

Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion

open access: yesCase Reports in Endocrinology, 2023
Hypoglycemia is concerning for neurological complications in infants and children. Determining the cause of hypoglycemia is essential in providing appropriate treatment.
Erica Wee   +5 more
doaj   +1 more source

Transient hyperinsulinism in neonates

open access: yesProblems of Endocrinology, 2020
Congenital hyperinsulinusm is rare disease characterized high secretion of insulin by pancreatic beta cells leading to the development of hypoglycemia. Persistent and transient forms of hyperinsulinism are distinguished. Transient hyperinsulinism are the most common cause of severe hypoglycemia in newborns.
Anna V. Bolmasova   +7 more
openaire   +4 more sources

Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia [PDF]

open access: yes, 2015
Objective: To study the clinical and molecular characteristics of a sample of Brazilian patients with Congenital Hyperinsulinemic Hypoglycemia (CHH).Methods: Electronic message was sent to members from Endocrinology Department-Brazilian Society of ...
Della Manna, Thais   +5 more
core   +3 more sources

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