Results 21 to 30 of about 1,384 (167)

Wolfram (DIDMOAD) syndrome. [PDF]

Journal of Medical Genetics, 1997
Wolfram syndrome (MIM 222300) is the association of juvenile onset diabetes mellitus and optic atrophy, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). Patients present with diabetes mellitus followed by optic atrophy in the first decade, cranial diabetes insipidus and sensorineural deafness in the second ...
T G, Barrett, S E, Bundey
openaire   +2 more sources

Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features. [PDF]

PLoS ONE, 2014
BACKGROUND: Wolfram syndrome (WFS) is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness) syndrome.
Kimie Matsunaga, Katsuya Tanabe, Hiroshi Inoue, Shigeru Okuya, Yasuharu Ohta, Masaru Akiyama, Akihiko Taguchi, Yukari Kora, Naoko Okayama, Yuichiro Yamada, Yasuhiko Wada, Shin Amemiya, Shigetaka Sugihara, Yuzo Nakao, Yoshitomo Oka, Yukio Tanizawa   +15 more
doaj   +1 more source

Wolfram syndrome: A case report

Chronic Diseases Journal, 2014
Wolfram syndrome (WFS) is a rare disease inherited as an autosomal dominant trait. Type I diabetes mellitus and optic atrophy are the main symptoms of the disease.
Alireza Eskandarifar, Banafsheh Sedaghat, Somayeh Janany, Mozhgan Hosseiny, Alireza Gharib   +4 more
doaj   +1 more source

Wolfram to Alstrom: Analysis of a Diagnostic Error

Online Journal of Health & Allied Sciences, 2021
Wolfram syndrome (DIDMOAD) and Alstrom syndrome are two rare, clinically similar diseases inherited in an autosomal recessive pattern. We report the case of a 19 year old male who presented with left upper abdominal mass and two episodes of high coloured
Annapoorna Chakrabarty, Shipra Rai, Kavitha Saravu   +2 more
doaj  

Relato de um paciente brasileiro com síndrome de Wolfram Report of a Brazilian patient with Wolfram syndrome

Jornal de Pediatria, 2002
Objetivos: relatar o caso de um paciente com diagnóstico de síndrome de Wolfram (SW) e braquidactilia do tipo E. A síndrome de Wolfram é caracterizada pela presença de diabetes melito, diabetes insípido, atrofia do nervo óptico, alterações do trato ...
Paulo R.G. Zen, Louise L.C. Pinto, Ida V.D. Schwartz, Timothy G. Barrett, Giorgio Paskulin   +4 more
doaj   +1 more source

Wolfram syndrome: A rare case report

Indian Journal of Pathology and Microbiology, 2019
We present an autopsy case of a 19 year old male admitted for breathlessness and oliguria. He was diabetic since 7 years of age and was on insulin. Patient was on testosterone and anti hypertensives.
Anitha Padmanabhan, Aditi Parihar, Urmi S C. Vartak, Nitin M Gadgil   +3 more
doaj   +1 more source

DIDMOAD (Wolfram) Syndrome

Journal of Cellular & Molecular Anesthesia, 2016
Wolfram syndrome was first described by physician D J Wolfram and Wagener in 1938. This autosomal recessive syndrome is also referred to as DIDMOAD syndrome which stands for Diabetes Insipidus, Insulin Dependent Diabetes Mellitus, Optic Atrophy and ...
Nashibi, Masoud, Tajbakhsh, Ardeshir, Mahdavipour Vahdati, Solmaz, Safari, Farhad, Mottaghi, Kamran   +4 more
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Sakharnyy diabet pri ataksii Fridreykha

Сахарный диабет, 2000
Сочетание сахарного диабета (СД) с различными наследственными заболеваниями и синдромами считается одним из доказательств его генетической гетерогенности.
O S Shcheglova, G E Rudenskaya, Tamara Leonidovna Kuraeva, S A Klyushnikov   +3 more
doaj   +1 more source

The Impact of Mutations in Wolframin on Psychiatric Disorders

Frontiers in Pediatrics, 2021
Wolfram Syndrome is a rare autosomal recessive disease characterized by early-onset diabetes mellitus, neurodegeneration, and psychological disorders. Mutations in the gene WFS1, coding for the protein wolframin, cause Wolfram Syndrome and are associated
Saira Munshani, Eiman Y. Ibrahim, Eiman Y. Ibrahim, Ilaria Domenicano, Barbara E. Ehrlich   +4 more
doaj   +1 more source

Síndrome de Wolfram - Diagnóstico clínico de condição rara multissistêmica [PDF]

Revista Brasileira de Oftalmologia
Resumo A Síndrome de Wolfram consiste em uma patologia neurodegenerativa de caráter genético, também conhecida pela sigla DIDMOAD que traduz os principais achados dessa doença, Diabetes Insipidus, Diabetes Mellitus, Atrofia Óptica e Surdez. O artigo visa
Larissa Braga da Silva, Beatriz Iris dos Santos, Roberto Augusto Fernandes Machado   +2 more
doaj   +4 more sources