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Case report: Neonatal diabetes mellitus caused by mutation presenting with intracranial hemorrhage.
Front Neurol
March 2023
Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China.
Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes. At present, most published studies have focused on the types of gene mutations associated with NDM and the therapeutic effect of sulfonylureas (SUs) on the disease; few studies on NDM-associated intracranial hemorrhage (ICH) exist. In addition, p.
View Article and Find Full Text PDFGenotype-phenotype correlation of K channel gene defects causing permanent neonatal diabetes in Indian patients.
Pediatr Diabetes
February 2021
Department of Molecular Genetics, Madras Diabetes Research Foundation, ICMR Advanced Centre for Genomics of Type 2 Diabetes, Affiliated to University of Madras, Chennai, India.
Background: There are very few reports pertaining to Indian patients with neonatal diabetes mellitus (NDM). Activating or gain of function mutations of K channel genes namely KCNJ11 and ABCC8 are most predominant cause of permanent neonatal diabetes mellitus (PNDM).
Objectives: To identify the genotype-phenotype correlation of K channel gene defects in a large series of (n = 181) Indian PNDM patients.
Neonatal diabetes is a rare form of monogenic diabetes characterised by persistent hyperglycaemia during the first 6-9 months of age. About half of the cases of neonatal diabetes are transient forms resulting from mutations in the genes in the imprinted region of chromosome 6q24 and the other half are permanent forms. Activating mutations in the potassium ATP (KATP) channels encoded by the genes KCNJ11 and ABCC8 are responsible for the majority of permanent neonatal diabetes mellitus (PNDM).
View Article and Find Full Text PDFMolecular and clinical features of K -channel neonatal diabetes mellitus in Japan.
Pediatr Diabetes
November 2017
Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
Background: There are few reports pertaining to Asian patients with neonatal diabetes mellitus (NDM) caused by activating mutations in the ATP-sensitive potassium channel genes (KATP-NDM).
Objectives: To elucidate the characteristics of Japanese patients with KATP-NDM.
Methods: By the amplification and direct sequencing of all exons and exon-intron boundaries of the KCNJ11 and ABCC8 genes, 25 patients with KATP-NDM were identified from a total of 70 patients with NDM.
Glycemic control and motor development in a patient with intermediate DEND.
Pediatr Int
June 2014
Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.
The most common cause of neonatal diabetes, KCNJ11 gene mutation, can manifest as a neurological disorder. The most severe form consists of a constellation of developmental delay, epilepsy, and neonatal diabetes (DEND). Intermediate DEND (iDEND) refers to a milder presentation without epilepsy.
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