Results 121 to 130 of about 3,174 (161)

Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing. [PDF]

Front Endocrinol (Lausanne)
Flanagan SE, Lazaridi IA, Männistö JME, Bennett JJ, Kalyon O, Johnson MB, Wakeling MN, Houghton JAL, Laver TW.   +8 more
europepmc   +1 more source

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

J Clin Endocrinol Metab
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   +1 more source

Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.

J Clin Endocrinol Metab
Velde CD, Molnes J, Berland S, Njølstad PR, Molven A.   +4 more
europepmc   +1 more source

Congenital Hyperinsulinism and Long QT Syndrome Attributable to a Variant in <italic>KCNE1</italic>.

Horm Res Paediatr
Sigal W, Boodhansingh KE, Ganguly A, Mitteer LM, Stanley CA, De León DD.   +5 more
europepmc   +1 more source

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Surgical treatment of congenital hyperinsulinism

Seminars in Pediatric Surgery, 2020
A multidisciplinary approach to patients with congenital hyperinsulinism (HI) can distinguish focal from diffuse HI, localize focal lesions, and permit partial pancreatectomy with cure in almost all focal patients. Surgery does not cure diffuse disease but can help prevent severe hypoglycemia and brain damage. Surgery can be curative for insulinoma and
Scott Adzick
exaly   +3 more sources

Congenital hyperinsulinism

Current Opinion in Pediatrics, 2013
Congenital hyperinsulinism (CHI) is a multifaceted disease and continues to be the most common cause of persistent hypoglycemia in infants. The purpose of the review is to highlight important recent developments regarding CHI.Several recent studies have highlighted the advances in medical genetics, imaging techniques, histological variety, and surgical
Vittoria Rufini, Milena Pizzoferro
openaire   +3 more sources

A Newborn with Congenital Hyperinsulinism

Fetal and Pediatric Pathology, 2019
Objective: Our aim was to describe the molecular alterations in the ABCC8 gene in a child with congenital hyperinsulinism (CHI). Methods: Genetic analysis of the ABCC8 gene of a newborn infant with congenial hyperinsulinism was obtained. Results: There were two mutations in the ABCC8 gene, c.4412delT, and c.3979G > A, indicating a compound heterozygous
Yiting, Du, Rong, Ju, Yufeng, Xi, Peng, Gou   +3 more
openaire   +2 more sources

Genetics of Congenital Hyperinsulinism

Endocrine Pathology, 2004
Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous entity and causes severe hypoglycemia in neonates and infants. The clinical heterogeneity is manifested by severity ranging from extremely severe, life-threatening disease to very mild clinical symptoms, which may even be difficult to identify.
Jean-Christophe, Fournet, Claudine, Junien   +1 more
openaire   +2 more sources

Congenital Hyperinsulinism and Cardiomyopathy

Fetal and Pediatric Pathology, 2012
We read with great interest the article by Bulbul et al [1] appearing in Volume 29, Issue 3, 2010.They presented a babywith hypertrophic cardiomyopathy and hyperinsulinemic hypoglycemia resistant tomedical treatment.Themutation analysis could not been performed in this case, however the disease clearly was due to an ATP-sensitivepotassium (KATP ...
Teoman, Akcay, Necati, Taskin, Korkut, Ulucan, Deniz, Kirac   +3 more
openaire   +2 more sources