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M Ruggieri A Polizzi MC Vitaliti G Magro S Musumeci 《Acta paediatrica (Oslo, Norway : 1992)》1999,88(6):671-674
Cryptococcal meningitis is one of the most common life-threatening, invasive fungal infections of the central nervous system in patients with defective T-lymphocyte function. It is, however, unusual in children. We report on a non-immunocompromised 10-y-old boy without evidence of immunological abnormality who developed headache, vomiting, disturbances of consciousness and areflexia. Magnetic resonance imaging of the brain and the spinal cord revealed enlargement of the ventricles and high signal lesions in the leptomeninges at the level of the cerebral peduncles and the cervical and thoracic cord. Cerebrospinal fluid analysis was positive for Cryptococcus neoformans. He was treated with amphotericin B and was symptom-free within 1 wk. Despite an extended course of therapy his symptoms suddenly relapsed and he succumbed to the medical complications of cardiac and respiratory failure. Central nervous system appearances at postmortem were those of cryptococcal leptomeningitis. 相似文献
967.
Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype–phenotype correlation 总被引:1,自引:0,他引:1
G Pepe B Giusti L Evangelisti MC Porciani T Brunelli L Giurlani M Attanasio R Fattori C Bagni P Comeglio R Abbate GF Gensini 《Clinical genetics》2001,59(6):444-450
Marfan syndrome (MFS) is a multisystemic disease associated with mutations in the fibrillin-1 gene. Most of the reported mutations are missense substitutions mainly affecting the epidermal growth factor (EGF)-like protein domain structure and the calcium-binding (cb) site. The aim of our study was to investigate the correlation between fibrillin-1 frameshift mutations and the clinical phenotype in patients affected by MFS. In 48 out of 66 Marfan patients a pathogenetic mutation was found. We detected novel mutations causing premature termination codon in exons 19, 37, 40 and 41 of four Italian patients. The first mutation in exon 19 (cbEGF #8 domain) results in a clinical phenotype involving mainly the skeletal and cardiovascular systems. Interestingly, we noticed that, while mutations in exons 37 and 41 (eight cysteine domains #4 and #5) are milder, the mutation in exon 40 (cbEGF #24 domain) is more severe and causes major cardiovascular involvement with thoracic and abdominal aortic aneurysms. It is noteworthy that the degree of the severity in the phenotype of one of our patients and another from the literature carrying a mutation in exon 41 could be explained with alterations in mRNA expression. 相似文献
968.
Chronic expression of P-selectin on endothelial cells stimulated by the T-cell cytokine, interleukin-3 总被引:10,自引:0,他引:10
Khew-Goodall Y; Butcher CM; Litwin MS; Newlands S; Korpelainen EI; Noack LM; Berndt MC; Lopez AF; Gamble JR; Vadas MA 《Blood》1996,87(4):1432-1438
P-selectin expressed on the surface of endothelium mediates leukocyte adhesion in vitro and rolling in vivo. Several inducers of cell-surface P-selectin expression on endothelial cells (EC) have previously been identified, all of which yield transient cell-surface expression of P- selectin lasting minutes to a few hours. We now show that a T- lymphocyte product, interleukin-3 (IL-3), stimulates the long-term endothelial cells (HUVEC). IL-3 induced cell-surface P-selectin expression in two phases. An initial peak at 10 minutes was followed by a prolonged upregulation beginning 16 hours after IL-3 addition and lasting at least 4 days. The level of P-selectin expression induced by IL-3 added for 48 hours was similar to that induced by treatment of HUVEC for 10 minutes with thrombin, and the effect of adding IL-3 for 48 hours followed by thrombin for 10 minutes was additive. Induction of cell-surface P-selectin expression by IL-3 was blocked by pretreatment of EC with a blocking monoclonal antibody against the IL-3 receptor alpha-chain. Lipopolysaccharide (LPS), tumor necrosis factor alpha (TNF alpha) and a mutant form of IL-3 with decreased potency did not induce cell-surface P-selectin expression after 48 hours' incubation with HUVEC, suggesting that the effect was specific to IL-3. The increase in cell-surface P-selectin expression occurring after 16 hours of incubation with IL-3 was accompanied by a similar prolonged increase in the steady-state mRNA level that was not observed at 10 minutes after IL-3 addition. As T-lymphocyte infiltration is a hallmark of chronic inflammation, our observations suggest that the secretion of IL-3 by T lymphocytes may serve to maintain the inflammatory state during chronic inflammation. 相似文献
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The cutaneous form of polyarteritis nodosa in children is extremely rare. Findings are usually limited to the skin, muscles and joints. It has a benign but often chronic course. We describe an 8-y-old girl with cutaneous PAN, with extensive livedo reticularis on lower and upper extremities, tender subcutaneous nodules, arthralgia and right ankle swelling. Skin biopsy revealed vasculitis of small and medium-sized blood vessels characterized by fibrinoid necrosis. The use of prednisolone resulted in clinical improvement initially, but recurrence occurred during tapering. She showed marked improvement with additional high dose methyl prednisolone monthly. 相似文献