Sluchay netipichnogo techeniya DIDMOAD-sindroma
Сахарный диабет, 2000 Один из наиболее изученных и распространенных генетических синдромов, включающих в себя СД 1 ? DlDMOAD-синдром. Развитие DIDMOAD-синдрома обусловлено митохондриальной дисфункцией.
Tamara Leonidovna Kuraeva +1 more
doaj +4 more sources
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 +4 more
doaj +3 more sources
The Presence of Periodic Limb Movement Disorder in a Patient with Diabetes Mellitus and Optic Atrophy (Wolfram Syndrome) [PDF]
Sleep Medicine Research, 2014 Wolfram syndrome (WFS) is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), together known as DIDMOAD. This syndrome is a rare autosomal recessive neurodegenerative disorder and typically begins wtih insulin ...
Bo Seong Kwon, Su-Hyun Han, Sang-Ahm Lee
doaj +2 more sources
Case Report: Rapid cataract development preceding diabetes mellitus in WFS1 spectrum disorder [PDF]
Frontiers in OphthalmologyWFS1 spectrum disorder is a rare condition, characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD). A 2-year-old female patient with a history of sensorineural hearing loss presented with rapid, sequential cataract ...
Aaishwariya A. Gulani +6 more
doaj +2 more sources
Novel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings [PDF]
Annals of Indian Academy of NeurologyWolfram syndrome (WS), a rare genetic neurodegenerative condition, is primarily characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss, along with diverse systemic manifestations.
Ravi P Singh +5 more
doaj +2 more sources
Gonadal Dysfunction in Wolfram Syndrome: A Prospective Study [PDF]
DiagnosticsBackground: Wolfram syndrome (WFS), also known as DIDMOAD, is a rare monogenic neurodegenerative disorder characterized by four key components: non-autoimmune insulin-dependent diabetes mellitus (DM), optic atrophy, sensorineural hearing loss, and ...
Gema Esteban-Bueno +1 more
doaj +2 more sources
A DIDMOAD syndrome family with juvenile glaucoma and myopia findings [PDF]
Acta Ophthalmologica, 2000 ABSTRACT. We present here two DIDMOAD syndrome cases (Diabetes Mellitus, Diabetes Insipidus, Optic Atrophy, Deafness) in a Turkish family. In the examination of the propositus who had consanguineous parents, diabetes mellitus, diabetes insipidus, optic atrophy, and deafness were observed in addition to myopia, juvenile glaucoma, posterior polar ...
K Güngör
exaly +3 more sources
Hyperglycemic Hyperosmolar State as the Initial Presentation of Wolfram Syndrome: A Common Complication Revealing a Rare Disease—A Case Report [PDF]
Clinical Case ReportsWolfram syndrome is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD).
Sushrut Ingawale +4 more
doaj +2 more sources
A Rare Case of Wolfram Syndrome Presenting With Tuberculous Meningitis: A Case Report [PDF]
Clinical Case ReportsWolfram syndrome is an extremely rare condition composed of a tetrad of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. When concurrently presenting with another condition, such as tuberculous meningitis, the widespread range of ...
Nabiha Khan +6 more
doaj +2 more sources