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排序方式: 共有224条查询结果,搜索用时 93 毫秒
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Jennifer A. Ruskey Lior Greenbaum Léanne Roncière Armaghan Alam Dan Spiegelman Christopher Liong Oren A. Levy Cheryl Waters Stanley Fahn Karen S. Marder Wendy Chung Gilad Yahalom Simon Israeli-Korn Vered Livneh Tsvia Fay-Karmon Roy N. Alcalay Sharon Hassin-Baer Ziv Gan-Or 《European journal of medical genetics》2019,62(1):65-69
Background
Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD), and are especially prevalent in the Ashkenazi Jewish (AJ) population. However, most studies on GBA in AJ genotype only seven selected Gaucher-associated pathogenic variants rather than sequencing the whole gene, which may leave carriers of PD-associated GBA variants undiscovered.Methods
GBA was fully sequenced using molecular inversion probes (MIPs) and Sanger sequencing in 735 AJ PD patients and 662 AJ controls, from Israel and New York. Additional AJ control data (n?=?3044) from the Inflammatory Bowel Disease Exome Portal was used.Results
Full GBA sequencing increased the number of variants discovered by 17.4%, compared to targeted genotyping. An additional 17 PD patients were identified with GBA-associated PD. The p.E326K variant was found in 1.6% of AJ PD patients, making it the second most common PD-associated GBA variant in AJ. GBA variants were found in 18% of PD patients and 7.5% of controls (OR?=?2.7, 95%CI?=?1.9–3.8, p?<?0.0001).Conclusion
Without full sequencing of GBA, or at minimum including p.E326K in the genotyping panel, a significant proportion of variant carriers go undiscovered and may be incorrectly assigned as non-carriers in studies or clinical trials. 相似文献3.
W H Yang G Dorval C K Osterland N J Gilmore 《The Journal of allergy and clinical immunology》1979,63(5):300-307
Chronic immunization may lead to the production of circulating immune complexes (CICs). This study was undertaken to determine the presence of circulating IgG immune complexes in 95 subjects with allergic rhinitis/asthma receiving immunotherapy, 46 individuals with similar diagnosis but not on immunotherapy, and 64 healthy controls. Modified Raji cell and murine leukemia cell (L-1210) assays, selected for a high density of Fc receptors and devoid of Epstein-Barr virus membrane antigen, were used. Other immunological parameters such as immunologlobulins G, A, M, E, and rheumatoid factor activity were also studied. The CIC concentrations in the treated group did not differ significantly from the untreated group, although both groups did have a significantly higher concentration than the healthy controls. The presence of CICs has no relationship with age or sex of patients, dosage of allergen administered, number and nature of allergens received, period between the time of last injection and the blood sampling, and the duration of immunotherapy. Serum IgG, IgA, IgM, and rheumatoid factor activity did not differ between the treated and untreated groups. IgE was significantly higher in the treated group when compared with the untreated, and IgE levels in treated patients with elevated CICs were significantly increased compared with CIC-negative treated patients. These data suggest that CICs are present in serum of atopic diseases such as allergic rhinitis/asthma. Significantly, an association of elevation of CICs with immunotherapy could not be demonstrated. 相似文献
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Salvatore Moricca Takao Kasuga Keith Mitchelson Alessandro Ragazzi Stephanos Diamandis 《Current genetics》1996,29(4):388-394
Mixed aeciospore isolates ofCronartium flaccidum andPeridermium pini were obtained from single-tree infections in Britain, Italy and Greece. The 5.8s ribosomal RNA gene and flanking intergenic transcribed spacer regions ITS 1 and ITS2 were found to be highly similar betweenC. flaccidum andP. pini. Within samples heterogeneity was detected at three nucleotide loci in the ITS1 and at four loci in the ITS2 suggesting that several fungal genotypes may occur at a single infection court. The heterogeneity was confirmed by heteroduplex polymorphism analysis of mixed aeciospore products. RFLP of the ribosomal intergenic spacer region 1 (IGSI) amplified from the same templates indicated limited sequence polymorphism in some copies of this repeated locus. Both the sexual and asexual forms ofC. flaccidum show evidence of sequence polymorphism in two independent, non-coding regions of the ribosomal gene array. Variation appears to be greater in the sexual formC. flaccidum, than in the monoaecious formP. pini. 相似文献
5.
松针提取液对实验性高脂血症及脂质过氧化作用的影响 总被引:29,自引:0,他引:29
经 8周高脂乳剂饲养后 ,选高脂血症造模成功的家兔 1 5只 ,随机分为对照组、松针提取液小剂量治疗组 (实验Ⅰ组 )、松针提取液大剂量治疗组 (实验Ⅱ组 )。取血测TG、TC、MDA含量和SOD活性及总抗氧化活力。结果动物经松针提取液治疗后 ,血TC及MDA含量降低 ,SOD活性及总抗氧化活力升高 ,与对照组比较 ,治疗Ⅱ组的降脂作用和抗氧化能力更显著。结论 :松针提取液对高脂血症有较强的降脂和抗氧化作用。 相似文献
6.
目的观察皮敏消胶囊联合松馏油糊剂治疗阴囊激素依赖性皮炎的安全性及疗效。方法 66例患者随机分为两组。系统用药:治疗组口服皮敏消胶囊4粒,3次/d,对照组口服赛庚啶片4mg,1次/晚。局部治疗:治疗组给予松馏油糊剂封包治疗,1次/24h。对照组给予氟芬那酸丁酯软膏外用,2次/d。两组病例均治疗观察4周评定疗效,同时对痊愈病例停止用药,随访1个月观察远期疗效。结果治疗组完成32例,痊愈显效率84.38%;对照组完成29例,痊愈显效率58.62%。χ2=5.02,P<0.05。治疗组近、远期疗效和安全性均优于对照组。结论皮敏消胶囊联合松馏油糊剂治疗阴囊激素依赖性皮炎安全可靠,疗效较好,有临床使用价值。 相似文献
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Differences in length and circumference of cigarettes may influence smoker behaviour and exposure to smoke constituents. Superslim king-size (KSSS) cigarettes (17 mm circumference versus 25 mm circumference of conventional king-size [KS] cigarettes), have gained popularity in several countries, including Russia. Some smoke constituents are lower in machine-smoked KSSS versus KS cigarettes, but few data exist on actual exposure in smokers. We investigated mouth-level exposure (MLE) to tar and nicotine in Russian smokers of KSSS versus KS cigarettes and measured smoke constituents under machine-smoking conditions. MLE to tar was similar for smokers of 1 mg ISO tar yield products, but lower for smokers of 4 mg and 7 mg KSSS versus KS cigarettes. MLE to nicotine was lower in smokers of 4 mg KSSS versus KS cigarettes, but not for other tar bands. No gender differences were observed for nicotine or tar MLE. Under International Organization for Standardization, Health Canada Intense and Massachusetts regimes, KSSS cigarettes tended to yield less carbon monoxide, acetaldehyde, nitric oxide, acrylonitrile, benzene, 1,3-butadiene and tobacco-specific nitrosamines, but more formaldehyde, than KS cigarettes. In summary, differences in MLE were observed between cigarette formats, but not systematically across pack tar bands. 相似文献
9.
Aparna Vadlamani Justin A. Perry Maureen McCunn Deborah M. Stein Jennifer S. Albrecht 《Archives of physical medicine and rehabilitation》2019,100(9):1622-1628
ObjectiveTo determine if there were racial differences in discharge location among older adults treated for traumatic brain injury (TBI) at a level 1 trauma center.DesignRetrospective cohort study.SettingR Adams Cowley Shock Trauma Center.ParticipantsBlack and white adults aged ≥65 years treated for TBI between 1998 and 2012 and discharged to home without services or inpatient rehabilitation (N=2902).Main Outcome MeasuresWe assessed the association between race and discharge location via logistic regression. Covariates included age, sex, Abbreviated Injury Scale-Head score, insurance type, Glasgow Coma Scale score, and comorbidities.ResultsThere were 2487 (86%) whites and 415 blacks (14%) in the sample. A total of 1513 (52%) were discharged to inpatient rehabilitation and 1389 (48%) were discharged home without services. In adjusted logistic regression, blacks were more likely to be discharged to inpatient rehabilitation than to home without services compared to whites (odds ratio 1.34, 95% confidence interval, 1.06-1.70).ConclusionsIn this group of Medicare-eligible older adults, blacks were more likely to be discharged to inpatient rehabilitation compared to whites. 相似文献
10.
Cold stress by increasing circulating catecholamines may sensitize blood platelets to aggregate and release their constituents. This study investigates the effect of cold stress on the release of the platelet-specific protein beta-thromboglobulin into the coronary venous blood of 12 subjects with atherosclerotic coronary artery disease (CAD) and 7 subjects with angiographically normal coronary arteries (NCA). Cold pressor stress caused a greater increase in systolic arterial pressure in patients with CAD than in subjects with NCA (p less than 0.05). There was no significant difference between the platelet counts in the arterial or coronary venous blood either before or during cold stress. Arterial beta-thromboglobulin was higher in the group with CAD (77 +/- 18 ng/ml) than in subjects with NCA (49 +/- 12 ng/ml, p less than 0.01). Although there was no arteriovenous difference of beta-thromboglobulin at rest in either group, during cold stress, coronary venous beta-thromboglobulin increased in both the NCA (53 +/- 16 to 95 +/- 26 ng/ml, p less than 0.05) and CAD groups (76 +/- 13 to 117 +/- 53 ng/ml, p less than 0.025) despite no change in arterial beta-thromboglobulin. Release of beta-thromboglobulin, although not related to the presence of angiographic arterial disease, correlated with the systolic arterial pressure during cold stress (r = 0.66) and inversely with the platelet's ability to generate cyclic adenosine monophosphate (r = 0.69). The release of platelet constituents in the coronary circulation is provoked by cold stress and may play a role in stress-induced acute coronary occlusion in patients with atherosclerotic disease and in those with apparently normal vessels. 相似文献