Results 61 to 70 of about 1,362 (148)

A Rare Case of Wolfram Syndrome [PDF]

, 2015
A 15-year-old boy was referred because of bilateral hydroureteronephrosis. He had poorly controlled diabetes mellitus since he was 4 years old. He had polyuria and polydipsia.
Allahverdi, Bahar, Sayarifard, Fetemeh, Asadi, Farahnak, Gorji, Mojtaba, Rostami, Parasto, Moghtaderi, Mastaneh   +5 more
core   +1 more source

Wolfram syndrome: new mutations, different phenotype. [PDF]

PLoS ONE, 2012
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".
Concetta Aloi, Alessandro Salina, Lorenzo Pasquali, Francesca Lugani, Katia Perri, Chiara Russo, Ramona Tallone, Gian Marco Ghiggeri, Renata Lorini, Giuseppe d'Annunzio   +9 more
doaj   +1 more source

Thiamine-responsive anemia in DIDMOAD syndrome [see comments]

, 1989
Two children with the DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) developed a megaloblastic and sideroblastic anemia, neutropenia, and borderline thrombocytopenia. Plasma thiamine concentration was low in one patient
P. Marradi, N. Monetti, C. Patrini, PINELLI, Leonardo, C. Borgna Pignatti   +4 more
core   +1 more source

Calidad de vida en familiares de pacientes con Síndrome de Wolfram

European Journal of Investigation in Health, Psychology and Education, 2016
El Síndrome de Wolfram (S.W.) es una enfermedad rara (ER) con una prevalencia estimada de 1/770000 habitantes que afecta a múltiples órganos y sistemas, considerándose esta enfermedad como crónica y progresiva.
Gema Esteban Bueno, Mónica Ruano García, Isabel Motero Vázquez   +2 more
doaj   +1 more source

Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus. [PDF]

PLoS ONE, 2015
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 ...
Zsuzsanna Elek, Nóra Németh, Géza Nagy, Helga Németh, Anikó Somogyi, Nóra Hosszufalusi, Mária Sasvári-Székely, Zsolt Rónai   +7 more
doaj   +1 more source

Unusual ocular manifestation in Wolfram syndrome

Indian Journal of Ophthalmology. Case Reports
Wolfram syndrome (WS), also known as diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), is a rare neurodegenerative disease. Bilateral optic atrophy is the most common ocular manifestation of the syndrome.
Sowmya Raveendra Murthy, Mansi Mistry, Disha Agarwal   +2 more
doaj   +1 more source

Two brothers with late onset Wolfram syndrome

Journal of Clinical and Translational Endocrinology Case Reports
Wolfram syndrome (OMIM #222300) is a rare cause of diabetes mellitus. Mutations in the WFS1 (Wolfram Syndrome-1) gene lead to diabetes mellitus, as well as deafness, neurological symptoms, urological and endocrinological disorders.
Lodi CW. Roksnoer, Virginie JM. Verhoeven, Femke AT. de Vries, Mandy van Hoek   +3 more
doaj   +1 more source

Una familia con síndrome de Wolfram [PDF]

, 2013
El Síndrome de Wolfram o DIDMOAD es una compleja entidad cuyos principales componentes son diabetes mellitus, diabetes insípida, atrofia óptica y sordera. Además se suelen asociar otras alteraciones en frecuencia variable.
Villar Gómez de las Heras,Karina, Grandes Velasco,Sonia, Ruano García,Mónica, Esteban Bueno,Gema   +3 more
core   +1 more source

Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome

Orphanet Journal of Rare Diseases, 2019
Background Wolfram Syndrome (WFS) is a rare autosomal recessive neurodegenerative disease which has a wide spectrum of manifestations including diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
Youjia Zhang, Lili Feng, Xiangmei Kong, Jihong Wu, Yuhong Chen, Guohong Tian   +5 more
doaj   +1 more source

A rare case of hypogonadism with Wolfram syndrome in an adult patient: A case report

Journal of Clinical and Translational Endocrinology Case Reports
The Wolfram syndrome is a rare dysmorphogenetic disease of autosomal recessive hereditary nature, characterized by insulin-dependent diabetes mellitus; the disease also has a constellation of other complications contributing to the acronym DIDMOAD ...
Alvina Karam, Ahmad Sharjeel Karam, Abdul Moez Karam   +2 more
doaj   +1 more source