نتایج جستجو برای: mody
تعداد نتایج: 686 فیلتر نتایج به سال:
OBJECTIVE Hepatocyte nuclear factor 1-α (HNF1A)/hepatocyte nuclear factor 4-α (HNF4A) maturity-onset diabetes of the young (MODY) is frequently misdiagnosed as type 1 diabetes, and patients are inappropriately treated with insulin. Blood C-peptide can aid in the diagnosis of MODY, but practical reasons limit its widespread use. Urinary C-peptide creatinine ratio (UCPCR), a stable measure of end...
زمینه و هدف: دیابت شیرین گروهی از اختلالات متابولیک در بدن است که با افزایش سطح قند خون همراه است. دیابت به سه گروه نوع یک (T1D)، نوع دو (T2D) و تک ژنی تقسیم می شود. دیابت بارز شده در بلوغ جوانان (MODY) نوعی دیابت تک ژنی می باشد که معمولاً با T1D یا T2D اشتباه گرفته می شود. هدف از این مطالعه، تشخیص MODY از طریق مارکرهای غیر ژنتیکی و تعیین فراوانی آن در جمعیت استان اصفهان است که این امر علاوه بر ...
OBJECTIVE The aim of our study was to describe and evaluate the clinical and metabolic characteristics of patients with MODY-3, MODY-2 or type 2 diabetes who presented I27L polymorphism in the HNF1alpha gene. METHODS The study included 31 previously diagnosed subjects under follow-up for MODY-3 (10 subjects from 5 families), MODY-2 (15 subjects from 9 families), or type 2 diabetes (6 subjects...
INTRODUCTION Premature atherosclerosis is a significant cause of morbidity and mortality in type 2 diabetes mellitus. Maturity onset diabetes of the young (MODY) accounts for approximately 2% of all diabetes, with mutations in the transcription factor; hepatocyte nuclear factor 1 alpha (HNF1A) accounting for the majority of MODY cases. There is somewhat limited data available on the prevalence ...
BACKGROUND Maturity-onset of the young (MODY) is a clinically heterogeneous form of diabetes characterized by an autosomal-dominant mode of inheritance, an onset before the age of 25 years, and a primary defect in the pancreatic beta-cell function. Approximately 30% of MODY families remain genetically unexplained (MODY-X). Here, we aimed to use whole-exome sequencing (WES) in a four-generation ...
AIM The prevalence of hepatocyte nuclear factor (HNF)-1A and HNF4A mutations, and the clinical implications following the genetic diagnosis of maturity-onset diabetes of the young (MODY) in the Irish population, remain unknown. The aim of this study was to establish the occurrence of HNF1A and HNF4A mutations in subjects classified clinically as MODY to identify novel mutations, and to determin...
Maturity-Onset Diabetes of the Young (MODY) is a monogenic form of diabetes, consisting of a heterogeneous group of autosomal dominant inherited disorders. Typical onset is in individuals prior to twenty five years, and presentation can mimic type 1 or 2 diabetes. Molecular genetic testing can allow precise identification of the different MODY sub-types. Making a specific diagnosis of MODY can ...
Maturity-onset diabetes of the young (MODY) is associated with familially inherited monogenic diabetes. It characterized by genetic mutations leading to pancreatic β-cell dysfunction and subsequent insulin production. Clinical features MODY include young-onset hyperglycemia a lack beta cell autoimmunity or resistance. Glucose-lowering agents are main therapeutic options for MODY. In this review...
CONTEXT Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset and a primary insulin secretion defect. Certain MODY gene sequence variants may be involved in polygenic forms of type 2 diabetes. OBJECTIVE We assessed the contribution of MODY genes to the etiology of type 2 early-onset diabetes in ...
EARLY HISTORY—In the academic year 1949–1950, one of us (S.S.F.), while a first-year Fellow in Endocrinology and Metabolism at the University of Michigan (Jerome W. Conn, Division Chief), initiated a prospective, long-term study on the diagnosis, natural history, and clinical genetics of diabetes. Starting with known diabetic patients from the Diabetes Clinic, I recruited their apparently healt...
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