نتایج جستجو برای: cytopathy
تعداد نتایج: 86 فیلتر نتایج به سال:
We retrospectively reviewed 118 muscle biopsy specimens from 113 patients with clinical and/or biochemical evidence of mitochondrial cytopathy. Light microscopic evaluation revealed histologic abnormalities in 65 specimens. The most common histologic findings included angular atrophic esterase-positive muscle fibers, type II muscle atrophy, regenerating muscle fibers, and scattered cytochrome-o...
A 6 year old boy who presented with steroid unresponsive nephrotic syndrome is reported. He was found to have focal segmental glomerulosclerosis and associated hypoparathyroidism and sensorineural deafness. The child progressed to end stage renal failure and was successfully managed by dialysis and cadaveric renal transplantation. He later developed progressive neurological deterioration and mi...
Thirteen children with abnormal mitochondria in muscle tissue, and a progressive neurological disorder that affected the cerebrum, cerebellum, extrapyramidal system, vestibular system, retina, upper motor neuron, lower motor neuron, and musculature, are reported. Other signs and symptoms were short stature, diabetes mellitus, cardiopathy, hypoplastic anaemia, glomerulopathy, and renal tubular d...
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome1 is one of the most frequently inherited mitochondrial disorders. MELAS syndrome is a systemic disease with multiple organ involvement.2 The most common mutation in MELAS is the m.3243A>G mutation in the MT-TL1 gene.2.
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