Evidence of retinal degeneration in Wolfram syndrome
نویسندگان
چکیده
منابع مشابه
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.
Wolfram syndrome is a rare autosomal recessive genetic disease characterized by insulin dependent diabetes and vision, hearing and brain abnormalities which generally emerge in childhood. Mutations in the WFS1 gene predispose cells to endoplasmic reticulum stress-mediated apoptosis and may induce myelin degradation in neuronal cell models. However, in vivo evidence of this phenomenon in humans ...
متن کاملWolfram syndrome.
Wolfram syndrome is a rare neurodegenerative and genetic disorder, which should be suspected in patients with young onset non-immune insulin dependent diabetes mellitus and optic atrophy. Patients are most likely to develop diabetes insipidus, deafness, urinary tract, and neurological abnormalities. 60% of the people with Wolfram syndrome die at age 35, usually due to central respiratory center...
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در این تحقیق به مطالعه وجود انتخاب نامساعد(کژ گزینی) در بازار بیمه درمان تکمیلی ایران پرداخته شده است. داده های مورد نیاز توسط پرسشنامه و به روش نمونه گیری خوشه ای جمع آوری شده است. پرسشنامه ها در میان افراد شاغل ساکن شهر تهران توریع شد. در این تحقیق با استفاده از تخمین دو مدل لجستیک و به دست آوردن ضریب همبستگی میان تقاضای بیمه درمان تکمیلی و رخداد خسارت به بررسی موضوع مورد نظر پرداخته شده است....
15 صفحه اولRadiological findings in Wolfram syndrome.
OBJECTIVE To determine the precise radiologic findings in Wolfram syndrome (WFS) patients using objective techniques in order to better define the reference population for the clinical evaluation. METHODS Sixteen patients (6 males and 10 females) with WFS found in 4 families were included in this study. Fourteen patients with WFS-2 came from 3 families while 2 patients with WFS-1 from one fam...
متن کاملA Case of Wolfram Syndrome
PURPOSE To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy. CASE REPORT A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both eyes with correction of -0.25+1.50@55 and -0.25+1.50@131 in his right and left eyes, respectively. Bilateral optic atrophy was evident on fundu...
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ژورنال
عنوان ژورنال: Ophthalmic Genetics
سال: 2018
ISSN: 1381-6810,1744-5094
DOI: 10.1080/13816810.2018.1551494