نتایج جستجو برای: bardetbiedl syndrome hypogonadism retinitis pigmentosa chronic kidney failure dialysis
تعداد نتایج: 1505227 فیلتر نتایج به سال:
The family of inherited ocular diseases that is collectively known as retinitis pigmentosa is a major cause of progressive retinal disease worldwide. As such, this family of diseases has been the object of much scientific scrutiny, both clinical and basic. The recent application of molecular genetic analyses has heralded the rapid elucidation of the underlying gene defects in many cases. In thi...
Introduction. Chronic renal failure is a progressive disease in which kidney function is impaired, so that the body can not metabolize and maintain fluid balance and electrolytes. thus,recent study evaluated the effect of 8 weeks aerobic training on some electrolytic indices in dialysis patients. Materials and Methods. The subjects of this study were Imam Jafar Sadegh Hospital of dialysis pa...
Kearns-Sayre syndrome is a rare disorder often caused by mitochondrial DNA rearrangement. The most commonly reported mitochondrial DNA deletion is 4977 bp in size spanning nucleotides 8469 and 13447. The clinical signs of Kearns-Sayre syndrome include chronic progressive external ophthalmoplegia, retinitis pigmentosa, heart block and cerebellar ataxia, as well as other heterogeneous manifestati...
PURPOSE To examine rhodopsin gene mutations in Japanese patients with retinitis pigmentosa. METHODS We performed a mutational analysis of the rhodopsin gene in 42 patients from 40 families with retinitis pigmentosa. Genomic DNA was amplified by polymerase chain reaction (PCR) and the PCR products were sequenced. Restriction enzyme analysis was performed in family members of 1 patient with a r...
AIM To describe a rare case of Vogt's limbal girdle in a boy with retinitis pigmentosa. METHODS A 13-year-old boy from India presented to us with progressive diminution of vision and nyctalopia for 5 years. On examination, he had the characteristic features of retinitis pigmentosa with the fundus showing disc pallor, bony spicules and arteriolar attenuation. His anterior segment examination s...
Peritoneal dialysis (PD) is an effective renal replacement strategy for patients suffering from end-stage renal disease. PD offers patient survival comparable to or better than in-center hemodialysis while preserving residual kidney function, empowering patient autonomy, and reducing financial burden to payors. The majority of patients suffering from kidney failure are eligible for PD. In patie...
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-cone dystrophy, polydactyly, hypogonadism in males, and renal abnormalities. The causative genes have been identified as BBS1-19. In Western countries, this disease is often reported, but remains undiagnosed in many patients until later in life, while only a few patients with ...
Senior-Loken syndrome refers to a disorder in which there is a combination of nephronophthisis and retinal dystrophy. The earliest presenting signs of the renal component are polyuria and polydipsia secondary to defective urinary concentrating ability. Nephronophthisis progresses to end-stage renal disease during the second decade. The retinal lesions are variable, ranging from severe infantile...
BACKGROUND The purpose of this study was to determine visual acuity at different contrast levels under photopic and mesopic conditions in patients with retinitis pigmentosa. METHODS Sixty eyes of 31 normal controls, 92 eyes of 52 patients with retinitis pigmentosa without other ocular disorders (RP-1 group), and 20 eyes of 14 patients with retinitis pigmentosa with cataracts and without other...
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