排序方式: 共有51条查询结果,搜索用时 15 毫秒
11.
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma 总被引:8,自引:0,他引:8 下载免费PDF全文
Vanharanta S Buchta M McWhinney SR Virta SK Peçzkowska M Morrison CD Lehtonen R Januszewicz A Järvinen H Juhola M Mecklin JP Pukkala E Herva R Kiuru M Nupponen NN Aaltonen LA Neumann HP Eng C 《American journal of human genetics》2004,74(1):153-159
Hereditary paraganglioma syndrome has recently been shown to be caused by germline heterozygous mutations in three (SDHB, SDHC, and SDHD) of the four genes that encode mitochondrial succinate dehydrogenase. Extraparaganglial component neoplasias have never been previously documented. In a population-based registry of symptomatic presentations of phaeochromocytoma/paraganglioma comprising 352 registrants, among whom 16 unrelated registrants were SDHB mutation positive, one family with germline SDHB mutation c.847-50delTCTC had two members with renal cell carcinoma (RCC), of solid histology, at ages 24 and 26 years. Both also had paraganglioma. A registry of early-onset RCCs revealed a family comprising a son with clear-cell RCC and his mother with a cardiac tumor, both with the germline SDHB R27X mutation. The cardiac tumor proved to be a paraganglioma. All RCCs showed loss of the remaining wild-type allele. Our observations suggest that germline SDHB mutations can predispose to early-onset kidney cancers in addition to paragangliomas and carry implications for medical surveillance. 相似文献
12.
13.
Buchta Vladimír Nekolová Jana Jirásková Naďa Bolehovská Radka Wipler Jan Hubka Vit 《Mycopathologia》2019,184(3):441-453
Mycopathologia - Colletotrichum species are known as important pathogens of plants with an impact on crop production. Some of these species are also known as a cause of rare ophthalmic infections... 相似文献
14.
Vladimír Buchta Alena Feuermannová Martin Váša Lenka Bašková Radka Kutová Alena Kubátová Marcela Vejsová 《Mycopathologia》2014,177(1-2):115-121
Outbreak of exogenous Fusarium endophthalmitis after cataract surgery was evaluated. Twenty patients developed postoperative endophthalmitis. In 19 eyes, pars plana vitrectomy (PPV) was performed, in 14 cases (74 %) with primary intraocular lens explantation. In one case, the PPV was not performed because of poor general condition of the patient. Symptoms of endophthalmitis (damaged vision, iritis, tyndallization in anterior chamber, hypopyon) occurred at intervals of 16–79 days (mean 31.3 days). Fungal etiology was documented in 12 eyes (60 %). Fusarium oxysporum was evidenced by culture and/or microscopy and confirmed by PCR and sequencing analysis. Eighteen (90 %) patients were treated with oral voriconazole (400 mg/day) for a period of 4–6 weeks. The final visual acuity was 6/15 in 1 case (5 %), 6/60 and worse in 17 eyes (85 %), and in 2 cases (10 %), enucleation had to be performed. Viscoelastic filling material was suggested the most likely source of infection. Endophthalmitis caused by Fusarium spp. are a potentially big threat for patients with serious impact on vision. Successful management of the infection is highly dependent on early diagnosis including species identification and antifungal susceptibility testing, and on aggressive and long-term treatment. 相似文献
15.
Orhan Özüak Thomas Buchta Siegfried Roth Jeremy A. Lynch 《Development genes and evolution》2014,224(4-6):223-233
The transforming growth factor beta (TGF)-β signaling pathway and its modulators are involved in many aspects of cellular growth and differentiation in all metazoa. Although most of the core components of the pathway are highly conserved, many lineage-specific adaptations have been observed including changes regarding paralog number, presence and absence of modulators, and functional relevance for particular processes. In the parasitic jewel wasp Nasonia vitripennis, the bone morphogenetic proteins (BMPs), one of the major subgroups of the TGF-β superfamily, play a more fundamental role in dorsoventral (DV) patterning than in all other insects studied so far. However, Nasonia lacks the BMP antagonist Short gastrulation (Sog)/chordin, which is essential for polarizing the BMP gradient along the DV axis in most bilaterian animals. Here, we present a broad survey of TGF-β signaling in Nasonia with the aim to detect other lineage-specific peculiarities and to identify potential mechanisms, which explain how BMP-dependent DV pattering occurs in the early Nasonia embryo in the absence of Sog. 相似文献
16.
Peptides containing Lys-Pro-Arg or Thr-Lys-Arg segments corresponding to various regions of human C-reactive protein were synthesized. The peptides prepared were composed of amino acid residues, 37–58, 51–58, 173–187 and 181–187 of C-reactive protein. The relationship between C-reactive protein, its synthetic fragments and tuftsin (Thr-Lys-Pro-Arg) was investigated in binding studies, enhancement of phagocytosis and change in cyclic nucleotide levels of mouse macrophages. The peptides AA 51–58 and 181–187 did enhance macrophage phagocytosis capacity to a similar extent to that of tuftsin. They showed however only negligible binding to the cells. The effect of C-reactive protein and the synthetic peptides on metabolic activity of neutrophils was also investigated. It was shown that the peptides inhibited to some degree superoxide production, lysozyme release and Vitamin B12 binding protein release from neutrophils in the absence and presence of the stimulants, PMA or Con A. Comparable activity with tuftsin was not found. 相似文献
17.
C-reactive protein decreases protein phosphorylation in stimulated human neutrophils 总被引:1,自引:0,他引:1
Treatment of human neutrophils with C-reactive protein (CRP) causes a concentration-dependent in the extent of activation of superoxide production and of granule secretion, induced by phorbol-12-myristate-13-acetate (PMA) or N-formyl-L-methionyl-L-leucyl-L-phenylalanine (fMLF). The same treatment also causes a significant reduction in the degree of PMA- and fMLF-stimulated phosphorylation of several cell proteins. These include the proteins of 43-47 kDa, whose extent of phosphorylation correlates with the activation of superoxide production and of secretion. Contrary to the effects exerted on protein phosphorylation, CRP does not affect the fMLF-elicited increase in neutrophil cytosolic Ca2+. 相似文献
18.
Vladimír Buchta Jan Černý Veronika Opletalová 《Central European Journal of Biology》2011,6(2):160-166
Propolis has been used in traditional folk medicine for ages owing to a number of biological effects. Four propolis samples
of Czech and one of Slovak origin were extracted using Soxhlet apparatus and analysed by thin-layer chromatography. Raw propolis
samples and their extracts were tested by microdilution broth method to determine minimal inhibitory concentration (MIC) in
eight strains of human pathogenic fungi. Raw propolis samples showed a lower in vitro antifungal activity than their extracts. In general, the petroleum ether extracts exhibited the highest in vitro antifungal activity (MIC range of 16–64 μg/ml). The content of flavonoids in the samples varied according to region. The
highest amount of flavonoids was found in sample A that originated from Broumov (4%). The most susceptible to the propolis
extracts were Trichophyton mentagrophytes and Candida albicans. The propolis samples of Czech and Slovak origin and their extracts showed a considerable in vitro antifungal effect which was associated especially with nonpolar petroleum ether and toluene extracts. There was only a partial
correlation between flavonoids content and in vitro antifungal activity. 相似文献
19.
20.
Lenka Ryskova Vladimir Buchta Marie Karaskova Jan Rakusan Jiri Cerny Radovan Slezak 《Central European Journal of Biology》2013,8(2):168-177