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We report the case of a child who presented with nonspecific symptoms suggestive of a rheumatologic disorder, whose bone marrow had a complex translocation involving the FGFR1 locus. Hematopathologic findings were subtle and did not definitively indicate malignancy. Because he responded poorly to initial treatment with hydroxyurea, and in light of the progressive clinical course associated with the 8p11 myeloproliferative syndrome, he underwent an unrelated-donor hematopoietic stem cell transplant. This patient's atypical presentation highlights the importance of obtaining cytogenetic analysis at the time of bone marrow sampling and considering this uncommon entity in the differential diagnosis of hematologic disorders. 相似文献
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J Kopycinski H Cheeseman A Ashraf D Gill P Hayes D Hannaman J Gilmour JH Cox S Vasan 《Clinical and Vaccine Immunology : CVI》2012,19(9):1557-1559
Administration of a clade C/B' candidate HIV-1 DNA vaccine, ADVAX, by in vivo electroporation (EP) was safe and more immunogenic than intramuscular administration without EP. The breadth and specificity of T-cell responses to full-length Env were mapped. Responses to multiple Env regions were induced, with most focusing on V3/C4 and V2 regions, including the α4β7 integrin-binding domain. The breadth of responses induced by this DNA vaccine regimen was comparable to that of viral-vectored vaccine regimens. 相似文献
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The process of atherogenesis can be conditioned by the imbalance between the tendency to oxidative modification of the lipoproteins containing apoprotein B100 and antioxidant plasma properties. The paper discusses the situations leading to disruption of oxidative homeostasis on the basis of available data. 相似文献
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The most common cause of calcific pericarditis is idiopathic. We report a case of a 24 year-old woman with Silver-Russell syndrome, history of Wilms' tumour in childhood, constrictive pericarditis and primary hyperparathyroidism. We analyse pathologic mechanisms of disseminated calcification and possible genetic factors that may contribute to aetiology and clinical presentation of calcific pericarditis. 相似文献
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Tolner EA Hochman DW Hassinen P Otáhal J Gaily E Haglund MM Kubová H Schuchmann S Vanhatalo S Kaila K 《Epilepsia》2011,52(1):104-114
Purpose: CO2 has been long recognized for its anticonvulsant properties. We aimed to determine whether inhaling 5% CO2 can be used to suppress seizures in epilepsy patients. The effect of CO2 on cortical epileptic activity accompanying behavioral seizures was studied in rats and nonhuman primates, and based on these data, preliminary tests were carried out in humans. Methods: In freely moving rats, cortical afterdischarges paralleled by myoclonic convulsions were evoked by sensorimotor cortex stimulation. Five percent CO2 was applied for 5 min, 3 min before stimulation. In macaque monkeys, hypercarbia was induced by hypoventilation while seizure activity was electrically or chemically evoked in the sensorimotor cortex. Seven patients with drug‐resistant partial epilepsy were examined with video‐EEG (electroencephalography) and received 5% CO2 in medical carbogen shortly after electrographic seizure onset. Results: In rats, 5% CO2 strongly suppressed cortical afterdischarges, by approximately 75%, whereas responses to single‐pulse stimulation were reduced by about 15% only. In macaques, increasing pCO2 from 37 to 44–45 mm Hg (corresponding to inhalation of 5% CO2 or less) suppressed stimulation‐induced cortical afterdischarges by about 70% and single, bicuculline‐induced epileptiform spikes by approximately 25%. In a pilot trial carried out in seven patients, a rapid termination of electrographic seizures was seen despite the fact that the application of 5% CO2 was started after seizure generalization. Conclusions: Five percent CO2 has a fast and potent anticonvulsant action. The present data suggest that medical carbogen with 5% CO2 can be used for acute treatment to suppress seizures in epilepsy patients. 相似文献