نتایج جستجو برای: mody

تعداد نتایج: 686  

Journal: :The Journal of Korean Diabetes 2022

Precision medicine, which optimizes diagnosis and treatment of diseases according to individualized characteristics, is becoming a reality in the field diabetes, especially for monogenic diabetes. Maturityonset diabetes young (MODY) type characterized by early onset, relative non-obesity, non-insulin dependence, autosomal dominant inheritance. With trend toward precision medicine improvement ge...

2010
Aparna Pal Andrew J. Farmer Christina Dudley Mary P. Selwood Beryl A. Barrow Rhiannon Klyne Jilly P. Grew Mark I. McCarthy Anna L. Gloyn Katharine R. Owen

OBJECTIVE Assignment of the correct molecular diagnosis in diabetes is necessary for informed decisions regarding treatment and prognosis. Better clinical markers would facilitate discrimination and prioritization for genetic testing between diabetes subtypes. Serum 1,5 anhydroglucitol (1,5AG) levels were reported to differentiate maturity-onset diabetes of the young due to HNF1A mutations (HNF...

Journal: : 2022

Maturity onset diabetes of the young is a dominantly inherited form monogenic diabetes, diagnosed mainly before age 35 years. Mutations in HNF1A and HNF4A genes are associated with mellitus HNF1A-MODY HNF4A-MODY subtypes, respectively. These two forms MODY characterized by dyslipidemia addition to impaired glucose metabolism due altered function proteins. The aim this study was genetic analysis...

Journal: : 2022

Despite the fact that most young patients with hyperglycemia are diagnosed type 1 (T1DM) and 2 (T2DM) diabetes, up to 10 % of all cases disease MODY diabetes. The common types GCK-MODY HNF1A-MODY, therefore investigation their clinical laboratory characteristics, including lipid spectrum indicators is high significance. aim this research work was study values in HNF1A-MODY at age from 18 45 yea...

2016
Christina Chambers Alexandra Fouts Fran Dong Kevin Colclough Zhenyuan Wang Sat Dev Batish Malgorzata Jaremko Sian Ellard Andrew T Hattersley Georgeanna Klingensmith Andrea K Steck

Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes caused by a mutation in a single gene, often not requiring insulin. The aim of this study was to estimate the frequency and clinical characteristics of MODY at the Barbara Davis Center. A total of 97 subjects with diabetes onset before age 25, a random C-peptide ≥0.1 ng/mL, and negative for all diabetes autoantibodies (...

2017
J. Hohendorff M. Szopa J. Skupien M. Kapusta B. Zapala T. Platek S. Mrozinska T. Parpan W. Glodzik A. Ludwig-Galezowska B. Kiec-Wilk T. Klupa M. T. Malecki

AIMS SGLT2 inhibitors are a new class of oral hypoglycemic agents used in type 2 diabetes (T2DM). Their effectiveness in maturity onset diabetes of the young (MODY) is unknown. We aimed to assess the response to a single dose of 10 mg dapagliflozin in patients with Hepatocyte Nuclear Factor 1 Alpha (HNF1A)-MODY, Glucokinase (GCK)-MODY, and type 2 diabetes. METHODS We examined 14 HNF1A-MODY, 1...

2011
Tim J. McDonald Beverley M. Shields Jane Lawry Katharine R. Owen Anna L. Gloyn Sian Ellard Andrew T. Hattersley

OBJECTIVE Maturity-onset diabetes of the young (MODY) as a result of mutations in hepatocyte nuclear factor 1-α (HNF1A) is often misdiagnosed as type 1 diabetes or type 2 diabetes. Recent work has shown that high-sensitivity C-reactive protein (hs-CRP) levels are lower in HNF1A-MODY than type 1 diabetes, type 2 diabetes, or glucokinase (GCK)-MODY. We aim to replicate these findings in larger nu...

Journal: :Diabetes care 2014
Ali J Chakera Gill Spyer Nicola Vincent Sian Ellard Andrew T Hattersley Fidelma P Dunne

OBJECTIVE Identifying glucokinase monogenic diabetes (GCK-MODY) in pregnancy is important, as management is different from management for other forms of gestational diabetes mellitus (GDM) and there is no increased maternal risk of type 2 diabetes. We calculated the population prevalence of GCK-MODY in pregnancy and determined the clinical characteristics that differentiate pregnant women with ...

2013
Gaya Thanabalasingham Jennifer E. Huffman Jayesh J. Kattla Mislav Novokmet Igor Rudan Anna L. Gloyn Caroline Hayward Barbara Adamczyk Rebecca M. Reynolds Ana Muzinic Neelam Hassanali Maja Pucic Amanda J. Bennett Abdelkader Essafi Ozren Polasek Saima A. Mughal Irma Redzic Dragan Primorac Lina Zgaga Ivana Kolcic Torben Hansen Daniela Gasperikova Erling Tjora Mark W.J. Strachan Trine Nielsen Juraj Stanik Iwar Klimes Oluf B. Pedersen Pål R. Njølstad Sarah H. Wild Ulf Gyllensten Olga Gornik James F. Wilson Nicholas D. Hastie Harry Campbell Mark I. McCarthy Pauline M. Rudd Katharine R. Owen Gordan Lauc Alan F. Wright

A recent genome-wide association study identified hepatocyte nuclear factor 1-α (HNF1A) as a key regulator of fucosylation. We hypothesized that loss-of-function HNF1A mutations causal for maturity-onset diabetes of the young (MODY) would display altered fucosylation of N-linked glycans on plasma proteins and that glycan biomarkers could improve the efficiency of a diagnosis of HNF1A-MODY. In a...

2015
Natalia Nowak Jerzy Hohendorff Iwona Solecka Magdalena Szopa Jan Skupien Beata Kiec-Wilk Wojciech Mlynarski Maciej T. Malecki

Ghrelin is a hormone that regulates appetite. It is likely to be involved in the pathophysiology of varying forms of diabetes. In animal studies, the ghrelin expression was regulated by the hepatocyte nuclear factor 1 alpha (HNF1A). Mutations of the HNF1A gene cause maturity onset diabetes of the young (MODY). We aimed to assess the circulating ghrelin levels in HNF1A-MODY and in other types of...

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