نتایج جستجو برای: didmoad

تعداد نتایج: 60  

Journal: :The British journal of ophthalmology 1976
S F Pilley H S Thompson

Marquardt and Loriaux (I974) describe a kinship of two siblings with the combination of diabetes mellitus, diabetes insipidus, and optic atrophy in which there was additional evidence of renal tract dilatation, amino-aciduria, and neurosensory hearing deficit. These authors cite 41 cases of optic atrophy and diabetes mellitus reported since an association of these conditions was first described...

Journal: :Diabetes technology & therapeutics 2011
Jothydev Kesavadev Anupam Kumar Arun Shankar Gopikakrishnan Gopalakrishnan Marshall A Permutt Jon Wasson Sunitha Jothydev

Wolfram syndrome (WS), or DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal recessive neurodegenerative disorder with a median life expectancy of 30 years and occurs in one in 770,000 live births. To date only five successful pregnancies have been reported among WS subjects worldwide. Here we describe the sixth report of successful pregnancy in a ...

2015
Zsuzsanna Elek Nóra Németh Géza Nagy Helga Németh Anikó Somogyi Nóra Hosszufalusi Mária Sasvári-Székely Zsolt Rónai Chiaho Shih

The absolute or relative lack of insulin is the key factor in the pathogenesis of diabetes mellitus. Although the connection between loss of function mutations of the WFS1 gene and DIDMOAD-syndrome including diabetes mellitus underpins the significance of wolframin in the pathogenesis, exact role of WFS1 polymorphic variants in the development of type 1 and type 2 diabetes has not been discover...

2012
Concetta Aloi Alessandro Salina Lorenzo Pasquali Francesca Lugani Katia Perri Chiara Russo Ramona Tallone Gian Marco Ghiggeri Renata Lorini Giuseppe d'Annunzio

BACKGROUND Wolfram Syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness identified by the acronym "DIDMOAD". The WS gene, WFS1, encodes a transmembrane protein called Wolframin, which recent evidence suggests may serve as a novel endoplasmic reticulum calcium channel in pancreatic β-cells and neuro...

2008
Giuseppe d’Annunzio Nicola Minuto Elena D’Amato Teresa de Toni Fortunato Lombardo Lorenzo Pasquali Renata Lorini

This is an uncopyedited electronic version of an article accepted for publication in Diabetes Care. The American Diabetes Association, publisher of Diabetes Care, is not responsible for any errors or omissions in this version of the manuscript or any version derived from it by third parties. The definitive publisherauthenticated version will be available in a future issue of Diabetes Care in pr...

Journal: :Gene 2013
Luciana Rigoli Fortunato Lombardo Giuseppina Salzano Chiara Di Bella Maria Francesca Messina Filippo De Luca Dario Iafusco

UNLABELLED The aim of the present paper is to describe a novel missense mutation (G107R) of WFS1 gene that was unexpectedly detected, in two siblings from Southern Italy, outside exon 8; a very unusual finding which has previously been reported only twice in Italian patients with Wolfram syndrome (WS). Although in Spanish pedigrees' WFS1 mutations are frequently located in exon 4, this finding ...

Journal: :Journal of medical genetics 2001
P Eller B Föger R Gander T Sauper M Lechleitner G Finkenstedt J R Patsch

EDITOR—Wolfram syndrome (OMIM 222300) is a progressive neurodegenerative disorder characterised by the association of juvenile, non-autoimmune, insulin dependent diabetes mellitus and optic atrophy. The physician D J Wolfram, who reported four cases in 1938, is credited with the first description. With the identification of other clinical features, Wolfram syndrome was also referred to as DIDMO...

2001
Philipp Eller Bernhard Föger Roland Gander Teresa Sauper Monika Lechleitner Gerd Finkenstedt Josef R Patsch

EDITOR—Wolfram syndrome (OMIM 222300) is a progressive neurodegenerative disorder characterised by the association of juvenile, non-autoimmune, insulin dependent diabetes mellitus and optic atrophy. The physician D J Wolfram, who reported four cases in 1938, is credited with the first description. With the identification of other clinical features, Wolfram syndrome was also referred to as DIDMO...

Journal: :Human molecular genetics 1998
T M Strom K Hörtnagel S Hofmann F Gekeler C Scharfe W Rabl K D Gerbitz T Meitinger

Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including deafness, ataxia and peripheral neuropathy. Mitochondrial DNA deletions have been described in a few patients and a locus has been mapped to 4p16 by linkage analysis. Susceptibility to psychiatric illness is reported t...

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