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Clinical Rheumatology - Gitelman syndrome represents the clinical manifestations of inactivation of the Slc12a3 genes encoding the thiazide-sensitive sodium chloride cotransporter and the Trpm6-Mg...  相似文献   
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Many studies have shown that hyperhomocysteinemia may be an independent risk factor for coronary artery disease. However, not all prospective studies support an association between elevated plasma homocysteine levels and coronary artery disease. Nitric oxide (NO) plays a relevant role in various events during atherogenesis, and in vitro data suggest that NO may modulate total homocysteine (tHcy) concentrations, whereas polymorphisms of the endothelial nitric oxide (NOS3) gene have been reported to be related to an increased risk of myocardial infarction (MI) and hyperhomocysteinemia, but the results have been controversial. We hypothesized that the NOS3 synthase 4a4b VNTR polymorphism is a determinant of tHcy concentrations and tested this in 310 patients with MI and 250 controls. The NOS3 gene intron 4a4b VNTR polymorphism was analyzed by polymerase chain reaction analysis. There was no significant difference in the homocysteine levels between patients with MI and controls. The frequencies of the NOS34b4b, 4b4a, and 4a4a genotypes in the MI group were significantly different from those in the control group. In patients with MI, plasma tHcy concentrations were significantly different among the NOS3 genotypes (13.5 ± 4.5, 18.5 ± 3.9, and 20.4 ± 2.1 μmol/L for 4b4b, 4a4b, and 4a4a genotypes, respectively; P < .001). However, no significant difference was observed for tHcy concentrations in the control group. In conclusion, the NOS34a4b gene polymorphism (presence of 4a allele) is associated with MI and influences plasma tHcy concentrations in patients with MI in the Tunisian male population.  相似文献   
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ABSTRACT: BACKGROUND: The aim of the present study was to appraise the antimicrobial activity of Ricinus communis L. essential oil against different pathogenic microorganisms and the cytotoxic activity against HeLa cell lines. METHODS: The agar disk diffusion method was used to study the antibacterial activity of Ricinus communis L. essential oil against 12 bacterial and 4 fungi strains. The disc diameters of zone of inhibition (DD), the minimum inhibitory concentrations (MIC) and the concentration inhibiting 50% (IC50) were investigated to characterize the antimicrobial activities of this essential oil. The in vitro cytotoxicity of Ricinus communis L. essential oil was examined using a modified MTT assay; the viability and the IC50 were used to evaluate this test. RESULTS: The essential oil from the leaves of Ricinus communis L. was analyzed by GC-MS and bioassays were carried out. Five constituents of the oil were identified by GC-MS. The antimicrobial activity of the oil was investigated in order to evaluate its efficacy against twelve bacteria and four fungi species, using disc diffusion and minimum inhibitory concentration methods. The essential oil showed strong antimicrobial activity against all microorganisms tested with higher sensitivity for Bacillus subtilis, Staphylococcus aureus and Enterobacter cloacae. The cytotoxic and apoptotic effects of the essential oil on HeLa cell lines were examined by MTT assay. The cytotoxicity of the oil was quite strong with IC50 values less than 2.63 mg/ml for both cell lines. CONCLUSION: The present study showed the potential antimicrobial and anticarcinogenic properties of the essential oil of Ricinus communis L., indicating the possibilities of its potential use in the formula of natural remedies for the topical treatment of infections.  相似文献   
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A 14-month-old British-African child presented with an asymptomatic eruption localized to her face and upper limbs. At the age of 17 months the eruption had started to spontaneously regress. Histologic examination of a biopsy specimen from a papular lesion on the arm showed a histiocytic infiltrate in the superficial dermis. Immunohistochemical studies showed negative staining for the Langerhans cell markers, CD1a and S-100 protein, while staining for the macrophage/histiocytic markers, CD68 and factor XIIIa, were positive. The clinical and histologic features in this patient are consistent with the rare, non-Langerhans, histiocytic disorder known as benign cephalic histiocytosis. As far as we are aware, this represents the first published occurrence in a child of African origin, emphasizing the widespread nature of this condition.  相似文献   
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Introduction

Noninvasive pressure support ventilation (NIPSV) and continuous positive airway pressure (CPAP) are both advocated in the treatment of cardiogenic pulmonary edema (CPE); however, the superiority of one technique over the other has not been clearly demonstrated. With regard to its physiological effects, we hypothesized that NIPSV would be better than CPAP in terms of clinical benefit.

Methods

In a prospective, randomized, controlled study performed in four emergency departments, 200 patients were assigned to CPAP (n?=?101) or NIPSV (n?=?99). Primary outcome was combined events of hospital death and tracheal intubation. Secondary outcomes included resolution time, myocardial infarction rate, and length of hospital stay. Separate analysis was performed in patients with hypercapnia and those with high B-type natriuretic peptide (>500?pg/ml).

Results

Hospital death occurred in 5 (5.0%) patients receiving NIPSV and 3 (2.9%) patients receiving CPAP (p?=?0.56). The need for intubation was observed in 6 (6%) patients in the NIPSV group and 4 (3.9%) patients in the CPAP group (p?=?0.46). Combined events were similar in both groups. NIPSV was associated to a shorter resolution time compared to CPAP (159?±?54 vs. 210?±?73?min; p?Conclusions During CPE, NIPSV accelerates the improvement of respiratory failure compared to CPAP but does not affect primary clinical outcome either in overall population or in subgroups of patients with hypercapnia or those with high B-type natriuretic peptide.  相似文献   
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Lipoblastomas are rare benign soft tissue tumors that occur primarily in young children. Most lipoblastomas occur in the extremities, trunk, head, and neck. An intrascrotal location is unusual. We describe a case of a 4-month-old infant with an intrascrotal lipoblastoma and discuss the differential diagnosis and review the literature.  相似文献   
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