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991.
992.
目的探讨中青年血清高敏C反应蛋白(hs-CRP)浓度与冠心病的关系。方法来我院体检中心体检的中青年4 320名,检测血清hs-CRP及其他生化指标,比较hs-CRP≤3 mg/L和>3 mg/L及联合血脂等生化指标共同检测与冠心病发病的相关性。结果 hs-CRP>3 mg/L的有997例,患冠心病的有31.9%,明显高于hs-CRP≤3 mg/L组的9.4%。hs-CRP与TC同时增高者患冠心病的达52.6%,明显高于单纯hs-CRP增高组(11.2%)及单纯TC增高组(14.0%)(P<0.01)。两组间总胆固醇、甘油三脂、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇、血糖和尿酸等指标均有显著差异(P<0.01),且随着年龄的增长,除低密度脂蛋白胆固醇降低外,其他指标均增加,与吸烟、饮酒、体质指数等密切相关。结论中青年hs-CRP升高与冠心病呈正相关,是其独立危险因素。但联合脂类等有关指标,早期预测冠心病更有临床价值。 相似文献
993.
Roy NB Myerson S Schuh AH Bignell P Patel R Wainscoat JS McGowan S Marchi E Atoyebi W Littlewood T Chacko J Vyas P Killick SB 《British journal of haematology》2011,154(4):521-524
Transfusion-dependent myelodysplastic (MDS) patients are prone to iron overload. We evaluated 43 transfused MDS patients with T2* magnetic resonance imaging scans. 81% had liver and 16·8% cardiac iron overload. Liver R2* (1000/T2*), but not cardiac R2*, was correlated with number of units transfused (r=0·72, P<0·0001) and ferritin (r=0·53, P<0·0001). The area under the curve of a time-ferritin plot was found to be much greater in patients with cardiac iron loading (median 53·7x10(5) Megaunits vs. 12·2x10(5) Megaunits, P=0·002). HFE, HFE2, HAMP or SLC40A1 genotypes were not predictors of iron overload in these patients. 相似文献
994.
Harbut MB Velmourougane G Dalal S Reiss G Whisstock JC Onder O Brisson D McGowan S Klemba M Greenbaum DC 《Proceedings of the National Academy of Sciences of the United States of America》2011,108(34):E526-E534
Malaria causes worldwide morbidity and mortality, and while chemotherapy remains an excellent means of malaria control, drug-resistant parasites necessitate the discovery of new antimalarials. Peptidases are a promising class of drug targets and perform several important roles during the Plasmodium falciparum erythrocytic life cycle. Herein, we report a multidisciplinary effort combining activity-based protein profiling, biochemical, and peptidomic approaches to functionally analyze two genetically essential P. falciparum metallo-aminopeptidases (MAPs), PfA-M1 and Pf-LAP. Through the synthesis of a suite of activity-based probes (ABPs) based on the general MAP inhibitor scaffold, bestatin, we generated specific ABPs for these two enzymes. Specific inhibition of PfA-M1 caused swelling of the parasite digestive vacuole and prevented proteolysis of hemoglobin (Hb)-derived oligopeptides, likely starving the parasite resulting in death. In contrast, inhibition of Pf-LAP was lethal to parasites early in the life cycle, prior to the onset of Hb degradation suggesting that Pf-LAP has an essential role outside of Hb digestion. 相似文献
995.
McCauley J Masand N McGowan R Rajagopalan S Hunter A Michaud JL Gibson K Robertson J Vaz F Abbs S Holden ST 《American journal of medical genetics. Part A》2011,(10):2370-2380
X-linked VACTERL-hydrocephalus syndrome (X-linked VACTERL-H) is a rare disorder caused by mutations in the gene FANCB which underlies Fanconi Anemia (FA) complementation group B. Cells from affected males have increased chromosome breakage on exposure to DNA cross-linking agents. Only five FANCB mutations found in six affected males, including an affected uncle and nephew, have been reported. We have identified FANCB mutations in a further four affected families. The VACTERL-H phenotype segregates as an X-linked recessive trait in three of these. Each mutation is predicted to truncate the FANCB open reading frame and results in highly skewed X-inactivation in unaffected carrier females. Phenotypic data were available on six affected males. Comparison of the clinical findings in our patients with published clinical data (total 12 patients) shows that ventriculomegaly, bilateral absent thumbs and radii, vertebral defects, renal agenesis, and growth retardation are the major phenotypic signs in affected males. Less frequent are brain, pituitary, ear and eye malformations, gastrointestinal atresias (esophageal, duodenal and anal), tracheoesophageal fistula, lung segmentation defects, and small genitalia. Three of six of our patients survived the perinatal period. One boy lived up to 2 years 10 months but developed aplastic anemia and died of renal failure. These data show that loss-of-function FANCB mutations result in a recognizable, multiple malformation phenotype in hemizygous males for which we propose clinical criteria to aid diagnosis. 相似文献
996.
McGowan R Gulati R McHenry P Cooke A Butler S Keng WT Murday V Whiteford M Dikkers FG Sikkema-Raddatz B van Essen T Tolmie J 《European journal of medical genetics》2011,54(6):e553-e559
We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three cases had no family history of similarly affected individuals but 1 male’s mother had short stature, some facial features suggestive of Myhre syndrome and evidence of skewed X-chromosome inactivation in her blood DNA. Short stature, deafness, learning difficulties, skeletal anomalies and facial dysmorphisms were evident in all cases. Arthralgia and stiff joints with limited movement were also present. The facial appearance, thickened skin, a ‘muscular’ habitus are memorable features. The female patient was least affected: this patient and one affected male displayed streaky skin with areas of patchy thickening, suggestive of genetic mosaicism. One patient developed sleep apnoea, a restrictive ventilatory defect and died following a choking episode. Another affected male developed recurrent, progressive, proximal, tracheal stenosis requiring partial tracheal resection, laser treatment and eventually tracheotomy. Review of Myhre syndrome patients in the literature and syndromes in the differential diagnosis, suggests heterogeneity in Myhre syndrome and clinical overlap with Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature syndrome. 相似文献
997.
998.
Veronese F Anton P Fletcher CV DeGruttola V McGowan I Becker S Zwerski S Burns D;Workshop Organizing Committee 《AIDS research and human retroviruses》2011,27(1):81-90
Abstract Six randomized clinical trials have been implemented to examine the efficacy of tenofovir disoproxil fumarate (TDF) and/or TDF/emtricitabine (TDF/FTC) as preexposure prophylaxis for HIV-1 infection (PrEP). Although largely complementary, the six trials have many similar features. As the earliest results become available, an urgent question may arise regarding whether changes should be made in the conduct of the other trials. To consider this in advance, a Consultation on the Implications of HIV Pre-Exposure Prophylaxis (PrEP) Trials Results sponsored by the Division of AIDS (DAIDS) of the National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), and the Bill and Melinda Gates Foundation (BMGF) was held on January 29, 2010, at the Natcher Conference Center, NIH, Bethesda, MD. Participants included basic scientists, clinical researchers (including investigators performing the current PrEP trials), and representatives from the U.S. Food and Drug Administration (FDA) and the agencies sponsoring the trials: the U.S. Centers for Disease Control and Prevention (CDC), the U.S. Agency for International Development (USAID), the BMGF, and the U.S. NIH. We report here a summary of the presentations and highlights of salient discussion topics from this workshop. 相似文献
999.
The morphogenesis of skin epithelia and adult hair follicle cycling both require integrated signaling between the epithelium and underlying mesenchyme. Because of their unique regulation, keratin intermediate filaments represent useful markers for the analysis of determination and differentiation processes in complex epithelia, such as the skin. In this study, we analyzed the distribution of mouse type I keratin 16 during skin morphogenesis, in the adult hair cycle, and in challenged epidermis. In mature hair follicles, we find keratin 16 along with its type II keratin partner keratin 6 in the companion layer of the outer root sheath during anagen and in the club hair sheath during catagen and telogen. During embryonic development, the distribution of keratin 16 is uncoupled from its presumed polymerization partner, keratin 6. Keratin 16 initially localizes within early hair germs, but rapidly shifts to a subset of cells at the interface of basal and suprabasal cells above and around the hair germ. The presence of keratin 16 at the transition between mitotically active and differentiating cells is recapitulated in primary keratinocytes cultured in vitro and in phorbol 12-myristate 13-acetate-treated back skin in vivo. We propose that keratin 16 marks cells in an intermediate state of cellular properties in which keratinocytes retain the flexibility required for activities such as cell migration and even mitosis but are resilient enough to provide the structural integrity required of the early suprabasal layers in the context of development, adult hair cycling, and wound repair. 相似文献
1000.
目的探讨祛瘀生新针法配合康复训练治疗高血压基底节区脑出血术后痉挛性瘫痪的临床效果。方法 42例基底节区脑出血术后偏瘫痉挛期的住院患者随机分为2组,治疗组22例和对照组20例,对照组采用康复训练治疗,治疗组在康复训练的基础上选用祛瘀生新针法,治疗后采用改良Ashworth痉挛评定表对患者恢复情况进行评定。结果经治疗2个月后,两组患者上、下肢Ashworth评分间差异有统计学意义(P<0.05)。结论祛瘀生新针法配合康复训练能有效的降低基底节区脑出血术后偏瘫患者的痉挛程度,促进偏瘫患者的正常运动模式的恢复。 相似文献