نتایج جستجو برای: mitochondrial syndromes
تعداد نتایج: 212315 فیلتر نتایج به سال:
how to cite this article: alavi s. paraneoplastic neurologic syndromes in children: a review article. iran j child neurol. 2013 summer; 7(3): 6- 14. objective paraneoplastic neurological syndromes (pns) were initially defined as neurological syndromes with unknown etiology that often associate with cancer. this broad definition may lead to misconception that any neurological syndrome, which coi...
background: endometrial integrin expression changes might be a reason for implantation failure in polycystic ovarian syndromes (pcos). objective: assessment of integrin genes and proteins expression upon endometrium in the pcos experimental mouse model was the main goal of this study. materials and methods: 30 nmri female mice were equally divided into control, experimental (pcos; received estr...
central giant cell granuloma is a benign, aggressive neoplasm composed of multinucleated giant cells that almost exclusively occurs in the jaws though extra-gnathic incidence is rare.multifocal cgcgs of the jaws are very rare and suggestive of systemic diseases such as hyperparathyroidism,an inherited syndrome such as noonan-like multiple giant cell lesion syndrome or other disorders.very few c...
Objective(s): As mitochondrial oxidative stress is probably entailed in ATP production, a candidate modifier factor for the long QT syndrome (LQTS) could be mitochondrial DNA (mtDNA). It has been notified that ion channels' activities in cardiomyocytes are sensitive to the ATP level. Materials and Methods: The sample of the research was an Iranian family with LQTS for mutations by PCR-SSCP and...
Background and purpose: Gestational diabetes is known as increasing blood glucose level for the first time during pregnancy. Mitochondrial damage and oxidative stress are the most important factors in the development of diabetic complications. Cerium nanoparticles have antioxidant properties. In this study we examined the protective effect of nanoceria in preventing mitochondrial damage induced...
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The mitochondria are the power plants of the cell; when they are unable to meet the brain’s substantial energy demands, neurodegeneration occurs. Leigh syndrome (LS) and Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) are two such neurodegenerative diseases, and are caused by dysfunctional ATP synthase. This enzyme is composed of fifteen subunits that work together to couple the flow of pro...
congenital myasthenic syndromes (cms) are a group of diseases caused by genetic defects affecting neuromuscular transmission and are heterogeneous in inheritance and pathophysiology. these are classified as: 1. presynaptic defects: including choline acetyl transferase deficiency, paucity of synaptic vesicles, lambert-eaton like cms 2. synaptic defect: endplate ach esterase deficiency 3. postsyn...
Progressive external ophthalmoplegia is a common clinical feature in mitochondrial disease caused by nuclear DNA defects and single, large-scale mitochondrial DNA deletions and is less frequently associated with point mutations of mitochondrial DNA. Peripheral neuropathy is also a frequent manifestation of mitochondrial disease, although its prevalence and characteristics varies considerably am...
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