Clinical and enzymatic phenotypes in congenital hyperinsulinemic hypoglycemia due to glucokinase ‐activating mutations: A report of two cases and a brief overview of the literature

ConclusionsThe clinical phenotypes of GCK ‐CHIs were highly heterogeneous. We have identified two novel GCK‐CHI mutations in young patients and investigated their pathogenicity by enzyme kinetic analysis, which expanded the spectrum of this rare disease.
Source: Journal of Diabetes Investigation - Category: Endocrinology Authors: Tags: Original Article Source Type: research

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Authors: DENTAL SUPPLEMENT, Oberti L, Gabrione F, Nardone M, Di Girolamo M Abstract Diabetes mellitus (DM) and periodontal disease (PD) are both chronic diseases. From one side, DM have an adverse effect on PD, and on the other side PD may influence DM. Systemic therapy of DM with glycaemic control, affects the progress of PD. Reversely treatment of PD combined with the administration of systemic antibiotics seems to have a double effect on diabetic patients reducing the periodontal infection and improving the glycaemic control. Inflammation, altered host responses, altered tissue homeostasis are common characteris...
Source: Journal of Biological Regulators and Homeostatic Agents - Category: Biomedical Science Tags: J Biol Regul Homeost Agents Source Type: research
Authors: DENTAL SUPPLEMENT, Contaldo M, Romano A, Mascitti M, Fiori F, Della Vella F, Serpico R, Santarelli A Abstract Candida species are commensal yeasts of the oral cavity, which, under predisposing systemic and/or local circumstances, are responsible for a wide variety of clinical manifestations, globally known as oral candidiasis. Candida-associated denture stomatitis is an oral candidiasis particularly affecting the oral mucosa covered by a dental prosthesis, with several degree of severity. Diabetics suffer oral candidiasis more frequently than healthy individuals do and if they are denture wearers, the risk...
Source: Journal of Biological Regulators and Homeostatic Agents - Category: Biomedical Science Tags: J Biol Regul Homeost Agents Source Type: research
Contributors : Charupong Saengboonmee ; Marie-Claude Gingras ; Wunchana Seubwai ; Sopit Wongkham ; Kyle R Covington ; Richard A Gibbs ; Chaisiri Wongkham ; Oliver Hampton ; Kazuo Umezawa ; Chatchai PhoomakSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensThis project was aimed to study the transciptomic profiles of cholangiocarcinoma cells cultured in different concentration of glucose. The established human cholangiocarcinoma cell line; KKU-213, and highly metastatic subline; KKU-213L5, were used. KKU-213 were cultured in either Dulbecco Modified Eagle's Medium (DMEM) with normal (5.6 ...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
BACKGROUND: This systematic review of epilepsy mortality systematic reviews evaluates comparative risks, causes, and risk factors for all-cause mortality in people with epilepsy (PWE) to specifically establish the burden of epilepsy-related deaths. ...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Drowning, Suffocation Source Type: news
The authors regret the term “standardized coefficients (β)” should be replaced with “unstandardized coefficients (B)” in Table 5. The authors would like to apologise for any inconvenience caused. Language: en...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news
The aim of this study was to determine the risk of having significant depressive symptoms in subjects with obesity and type 2 diabetes mellitus through a meta-analysis. Our results showed that individuals with obesity and diabetes have an increased risk of...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news
AbstractObjectiveTo study the prevalence of epilepsy and Inter-ictal epileptiform discharges (IED) in children with Autism spectrum disorder (ASD) and Attention-deficit hyperactivity disorder (ADHD), and the factors associated with occurrence of epilepsy in these children.MethodsChildren between 6 and 12 y attending the Child Development Centre of a tertiary-care institute in India were evaluated for ASD and ADHD as per Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5). Childhood Autism Rating Scale was used to assess ASD severity,  and Conner’s Rating Scales were used to sub-classify ch...
Source: Indian Journal of Pediatrics - Category: Pediatrics Source Type: research
ConclusionThe clinical phenotypes of GCK ‐CHIs were highly heterogeneous. We have identified two novel GCK‐CHI mutations in young patients and investigated their pathogenicity by enzyme kinetic analysis, which expanded the spectrum of this rare disease.This article is protected by copyright. All rights reserved.
Source: Journal of Diabetes Investigation - Category: Endocrinology Authors: Tags: Original Article Source Type: research
Wolcott-Rallison syndrome is a rare disease presenting with insulin-dependent diabetes mellitus (DM) before 6 months old, skeletal dysplasia after 6 months old, and liver failure. Other manifestations are renal failure, microcephaly, epilepsy, central hypothyroidism, neutropenia, and dental and dermal problems. The cases were 2 patients from 2 different states of Iran (Khoozestan and Fars) who had developed DM before 6 months old. The first one was a 7-month-old infant who was healthy; in the genetic study (screening), autosomal recessive pattern and novel deletion in EIF2AK3 were reported; her sister had died at 5.5 years...
Source: The Health Care Manager - Category: Health Management Tags: Article Source Type: research
Autoantibodies against the smaller isoform of glutamate decarboxylase (GAD65Ab) reflect autoimmune etiologies in Type 1 diabetes (T1D) and several neurological disorders, including Stiff Person Syndrome (SPS)....
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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