نتایج جستجو برای: atypical scid
تعداد نتایج: 54097 فیلتر نتایج به سال:
with an occurrence of 7%, appendicitis is one of the most common abdominal emergencies requiring surgery. since the variation in positions and length of the appendix may produce varying symptoms and signs which mimic other diseases, having knowledge of the variations in the position of the appendix is of significant importance. here, we present a 77-year-old man with acute appendicitis presenti...
introduction gradenigo’s syndrome consists of ophthalmoplegia, facial palsy, and facial pain due to involvement of abducens and facial nerves as well as the trigeminal ganglion. this involvement is due to infections of ipsilateral middle ear and mastoid bone. case presentation a 14-month-old girl was referred to a private clinic with chief complaint of acute and sudden-onset right ophthalmopleg...
recently, extensive efforts have been made to understand the rate of energy expenditure and the weight gain associated with atypical antipsychotic treatment, including identification of markers of obesity risk. in recent years, leptin, an adipocyte hormone, has gained significant interest in psychiatric disorders. s100b has been considered as a surrogate marker for astrocyte-specific damage in ...
a dead canary from a mixed species zoological garden was presented for diagnostic necropsy. cachexia with prominent atrophy of pectoral muscles, yellowish brown discoloration of the liver and kidney, dark brown to black intestinal contents and moderate proventricular dilatation with some degree of catarrhal gastritis were the significant macroscopic findings. parenchymatous organs like the live...
background: mycobacterium marinum infection has a worldwide distribution and the organism occupies many aquatic environments. infections in human consist of nodular cutaneous lesions that can progress to tenosynovitis, arthritis, and osteomyelitis. case presentation: a 27-year-old man was presented with a history of swelling and exudative erythematous lesions and pustules of the right forearm. ...
background: bisphosphonates (bps) are used extensively for managing the osteoporosis. there are some controversies on atypical fractures of femur that associated with increase in cortical thickness (ct) and bps' use. in this study, the effects of alendronate consumption were studied on femoral ct as a predictor for atypical fracture. methods: forty nine post-menopausal women aged 50-70 years ...
Double-stranded DNA breaks (DSBs) trigger p53-mediated cell cycle arrest or apoptosis pathways that limit the oncogenic consequences of exposure to genotoxic agents, but p53-mediated responses to DSB generated by normal physiologic events have not been documented. "Broken" V(D)J coding ends accumulate in scid lymphocyte precursors as a consequence of a mutation in DNA-dependent protein kinase (...
DNA-dependent protein kinase (DNA-PK) consists of a heterodimeric protein (Ku) and a large catalytic subunit (DNA-PKcs). The Ku protein has double-stranded DNA end-binding activity that serves to recruit the complex to DNA ends. Despite having serine/threonine protein kinase activity, DNA-PKcs falls into the phosphatidylinositol 3-kinase superfamily. DNA-PK functions in DNA double-strand break ...
Deficiency of the purine salvage enzyme adenosine deaminase leads to SCID (ADA-SCID). Hematopoietic cell transplantation (HCT) can lead to a permanent cure of SCID; however, little data are available on outcome of HCT for ADA-SCID in particular. In this multicenter retrospective study, we analyzed outcome of HCT in 106 patients with ADA-SCID who received a total of 119 transplants. HCT from mat...
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