نتایج جستجو برای: mitochondrial syndromes
تعداد نتایج: 212315 فیلتر نتایج به سال:
Pioglitazone (PG) is one of thiazolidinediones used for the treatment of type II diabetes mellitus. Some reports of its hepatotoxicity exist, but the mechanism of its hepatotoxicity is not well known. In the present study, the protective effect of some ATP suppliers are investigated against mitochondrial toxicity of PG in isolated rat mitochondria. Mitochondrial viability was investigated by MT...
mitochondrial functions have a major impact on t-cell functionality. in this study we characterized whether mitochondrial function in the neonatal t-cells differs from that in the adult t-cells during short t-cell activation. methods: we used fow cytometry methods to test mitochondrial mass and to monitor mitochondrial ca2+ levels, mitochondrial potential and superoxide generation in parallel w...
conclusions subcutaneous nodules in the absence of a local reaction at the site of bcg vaccination may be the sole manifestation of disseminated bcg disease. case presentation we report on an 11-months-old boy with prolonged fever and diffuse hyperpigmented subcutaneous nodules. due to lymphopenia, oral thrush and severe adverse reaction to bcg vaccination, the possibility of primary immunodefi...
background: myelodysplastic syndrome is a mixed clonal disorder of bone marrow progenitor cells. understanding the pattern of the different lineage-specific, immature, and mature markers in myelodysplastic syndrome will help in setting-up the frame of reference to diagnose. patients and methods: we compared 60 bone marrow samples from 30 newly-diagnosed patients with myelodysplastic syndrome an...
conclusions as green tea is an essential source of antioxidants such as flavonoids, suppression of reactive oxygen species (ros) generation may be in part considered as the neuroprotective mechanism on acr induced neurotoxicity. background acrylamide (acr) monomer is an effective neurotoxicant, which damages the central and peripheral nervous systems in humans and animals. green tea, an infusio...
An understanding of the genetic causes and molecular pathways of hereditary cancer syndromes has historically informed our knowledge and treatment of all types of cancers. For this review, we focus on three rare syndromes and their associated genetic mutations including BAP1, TP53, and SDHx (SDHA, SDHB, SDHC, SDHD, SDHAF2). BAP1 encodes an enzyme that catalyzes the removal of ubiquitin from pro...
microdeletion syndromes are contiguous gene deletion syndromes of less than 5 megabases. most often, many of these syndromes are not detectable by routine chromosomal analysis and require more specific testing techniques such as fish or more accurate general coverage like array comparative genomic hybridization. as many of these syndromes are phenotypically recognizable and allow for easy cl...
melas syndrome is a mitochondrial disorder with progressive nature, because adequate treatment is not available. diagnosis of this mitochondrial disorder depends initially on clinical suspicion, which is strengthened by additional metabolic evidence of impaired oxidative metabolism such as high serum or c.s.f. lactate levels and confirmed by demonstration of mitochondrial abnormalities-in muscl...
Clinical and biochemical findings in skeletal muscle in 11 patients with chronic fatigue myalgia syndromes of unknown aetiology are reported. All patients had severe asthenia for from one to 10 years with greatly limited exercise capacity and protracted exhaustion after minor exercise. Diffuse myalgia was prominent and was exacerbated for hours to days after exercise. Assay of skeletal muscle c...
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