Results 31 to 40 of about 1,362 (148)

DIDMOAD sindrom. Klinicheskiy razbor

Сахарный диабет, 2004
Синдром Вольфрама ? аутосомно-рецессивное заболевание, связанное с гомозиготной или несколькими гетерозиготными мутациями в гене синдрома Вольфрама (WFS1), расположенном на коротком плече 4-й хромосомы в положении 16.
K I Tabeeva, Zhanna Evgen'evna Belaya, D B Arutyunyan, Tatiana Vasil'evna Nikonova, Olga Mikhailovna Smirnova   +4 more
doaj   +1 more source

ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

, 2022
Pediatric Diabetes, Volume 23, Issue 8, Page 1188-1211, December 2022.
Siri Atma W. Greeley, Michel Polak, Pål R. Njølstad, Fabrizio Barbetti, Rachel Williams, Luis Castano, Klemens Raile, Dung Vu Chi, Abdelhadi Habeb, Andrew T. Hattersley, Ethel Codner   +10 more
wiley   +1 more source

A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity)

Journal of Clinical Laboratory Analysis, Volume 34, Issue 8, August 2020., 2020
Abstract Background Wolfram's syndrome (WFS) is a hereditary (autosomal recessive) neurodegenerative disorder. The clinical features are related to diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) with other variable clinical manifestations.
Shahram Torkamandi, Somaye Rezaei, Reza Mirfakhraie, Sahar Bayat, Samira Piltan, Milad Gholami   +5 more
wiley   +1 more source

Genetics of pediatric hearing loss: A functional perspective

Laryngoscope Investigative Otolaryngology, Volume 5, Issue 3, Page 511-519, June 2020., 2020
Abstract Objectives This article reviews the current role of genetics in pediatric hearing loss (HL). Methods A review of the current literature regarding the genetic basis of HL in children was performed. Results To date, 119 nonsyndromic genes have been associated with HL.
Harmon Khela, Margaret A. Kenna
wiley   +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

A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

Clinical Case Reports, Volume 7, Issue 12, Page 2355-2357, December 2019., 2019
Given the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status—maintaining quality of life—are of crucial importance.
Dimitrios T. Papadimitriou, Kleanthis Kleanthous, Emmanouil Manolakos, Anatoly Tiulpakov, Thomas Nikolopoulos, Alexandros Delides, Gerasimos Voros, Argyrios Dinopoulos, George Zoupanos, Anastasios Papadimitriou, Georgios Mastorakos, Fumihiko Urano   +11 more
wiley   +1 more source

Audiologic and molecular genetic findings in DIDMOAD-syndrome

, 2005
Wir stellen audiologische und molekulargenetische Befunde einer deutschen Familie mit DIDMOAD-Syndrom vor. DIDMOAD steht für eine neurodegenerative Erkrankung mit den Symptomen Diabetes mellitus, Diabetes insipidus, Optikusatrophie und Schwerhörigkeit ...
Kunz, J, Berger, R, Schnabel, K, Rausch, P, Schönfeld, R   +4 more
core   +1 more source