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51.
The prevalence of juvenile-onset Huntington's disease (HD) is about ten times lower than adult HD. Here we report a Chinese HD family showing both intergeneration CAG expansion and contraction. The expansion resulted from a paternal transmission which leads to juvenile-onset HD for a 17-year-old Chinese boy (III-5). More interestingly, a contraction was noticed in a maternal transmission (III-3), which changed the CAG repeat from an expanded, disease-causing allele (48 repeats) to a normal or intermediate allele (34 repeats). Of note, the contraction resulted in a deletion of 14 CAG repeats, which is much larger than previously reported contractions. Our results are consistent with previous observations in Western Caucasians that juvenile-onset HD is more likely inherited through the male germline.  相似文献   
52.
A new haplogroup pattern displayed in Fujian Han in China   总被引:1,自引:0,他引:1  
Yu M  Zhang Y  Xue Y  Chen F  Wang Q  Huang X  Wang B  Yu Y  Liu A  Ma L  Shi R  Lu F  Shi Z  Zhang Y  Cheng W  Ai Q  Xu F  Huang C  Chen B  Yang H  Kang X  Sun Y  Zhang G  Li P  Fu S 《Journal of human genetics》2002,47(2):95-98
Human Y-chromosomal binary polymorphisms have been considered to preserve the paternal genetic legacy and provide evidence on human evolution and the genetic relationships among and demographic history of different populations. To reveal the genetic origin and immigration of the Fujian Han, 13 binary markers on the Y chromosome were used to screen Fujian Han by allele-specific polymerase chain reaction. The results indicated that the M9G marker was highly prevalent (96.20%), suggesting a significant genetic drift. In addition, M122C frequency was only 22.78%, and M45A and M103T were default. The distinctive haplogroup frequencies (H1, H5, and H6/7/8) imply that the haplogroup pattern is a relatively ancestral and interim type. Received: October 13, 2001 / Accepted: December 3, 2001  相似文献   
53.
Wang  Min  Huang  Cheng  Shen  Xin  Zhang  Yangyi  Zhang  Zurong  Li  Jing  Zhao  Genming  Pan  Qichao  Jiang  Yuan 《Zeitschrift fur Gesundheitswissenschaften》2022,30(5):1055-1062
Journal of Public Health - To investigate the attack rate of active tuberculosis (TB) cases and detection rate of latent tuberculosis infection (LTBI) cases, and to identify possible factors...  相似文献   
54.
目的验证JOA X-线骨质疏松诊断标准的可靠性.方法47名女性病人(年龄65.3±7.2岁)行腰椎常规X-线检查和第三腰椎正、侧位DEXA骨密度测量.用t检验验证X-线骨质疏松等级间骨密度的差异性,用Spearman相关性分析法检验X-线骨质疏松等级与骨密度值的相关性.结果X-线骨质疏松等级间骨密度具有显著性差异(P<0.01),X-线骨质疏松等级与第三腰椎侧位骨密度值之间相关性最高(r=0.714).结论通过腰椎X-线片按照JOA标准划分骨质疏松等级,可以作为粗略检查腰椎骨质疏松的方法.  相似文献   
55.
中华眼镜蛇毒F组分对沙鼠脑缺血再灌注损伤的保护作用   总被引:1,自引:1,他引:0  
目的:研究中华眼镜它毒F组分脑缺血再灌注损伤的保护作用,方法:结扎沙鼠双侧颈总动脉1h,造成前脑缺血模型,用比色法测定脑匀浆过氧化脂质的最终产物丙二醛(MDA)的含量及超氧化物歧化酶(SOD)的活性,结果:F组分0.9,0.3,0.1mg/kg可显著抑制脑内脂质过氧化,降低MDA的含量,并提高超化物歧化酶的活,性且呈一定的量效关系,同缺血再灌组比较P<0.05,同阳性对照药尼莫通比较,P>0.05,结论:中华眼镜蛇毒F组分对脑缺血再灌注损伤有保护作用,可能与抑制自由基的生成和促进自由基的清除有关。  相似文献   
56.
The aim of this study is to investigate the effect of electro-acupuncture treatment in acute phase of cerebral infarction on the motor functions. In this randomly controlled trial, 86 patients were allocated to two groups, the experimental group given clinical and electro-acupuncture treatments for a period of 4 weeks, and the control group given clinical treatment plus active and/or passive functional exercise. The result showed that the level of impairment and disability in both groups were improvement according to the Chinese Stroke Scale, Brunnstrom-Fugl-Meyer score, and Barthel Index throughout the study and 3 months after. The motor functions and the activities of daily living (ADL) were improved significantly in the electro-acupuncture group as compared with the control group (P < 0.05). Also, the results showed greater reduction of neurological deficit in the electro-acupuncture group than in the control group. CONCLUSION: Early acupuncture treatment for acute stroke patients may improve motor functions, and consequently the activities of daily living.  相似文献   
57.
Xiao  Bihuan  Jiang  Yuan  Wang  Bin  Hu  Yang  Sun  Yan  Wu  Yan  Qiao  Shuai 《Lasers in medical science》2021,36(6):1261-1266
Lasers in Medical Science - Large-scale long-term retrospective study of noninsulated microneedle radiofrequency treatment on neck rejuvenation is lacking. We conducted a 3-year retrospective...  相似文献   
58.
BackgroundEmerging evidence reveals the importance of long non-coding RNAs (lncRNAs) in the development and progression of keloid formation. However, the roles and molecular mechanism of lncRNA LINC01116 in the progression of keloid formation remain largely unknown.MethodsThe expression levels of LINC01116, microRNA-203 (miR-203) and SMAD family member 5 (SMAD5) were measured by quantitative real-time polymerase chain reaction (qRT-PCR) and western blot. Cell proliferation, migration and invasion were detected by Cell counting Kit-8 (CCK-8) assay and transwell assay. Flow cytometry and western blot assay were used to examine cell apoptosis and extracellular matrix (ECM) production. The interaction between miR-203 and LINC01116 or SMAD5 was predicted by bioinformatics analysis and verified by dual-luciferase reporter and RNA Immunoprecipitation (RIP) and RNA pull-down assays.ResultsLINC01116 and SMAD5 were upregulated while miR-203 was downregulated in keloid tissues and keloid fibroblasts. LINC01116 knockdown suppressed the proliferation, migration, invasion, and ECM production but induced apoptosis in keloid fibroblasts through enhancing miR-203 and inhibiting SMAD5. Moreover, SMAD5 was identified as a direct target of miR-203 and miR-203 could directly bind to LINC01116. Besides, LINC01116 regulated SMAD5 expression by targeting miR-203.ConclusionDownregulation of LINC01116 inhibited the progression of keloid formation by regulating miR-203/SMAD5 axis, which might provide a novel target for keloid therapy.  相似文献   
59.
Xu  Yangyang  He  Qi  Wang  Mengqi  Gao  Yuan  Liu  Xiaowei  Li  Denghui  Xiong  Botao  Wang  Wei 《Neurosurgical review》2021,44(1):115-127
Neurosurgical Review - Magnetic resonance imaging-guided focused ultrasound (MRgFUS) neurosurgery is a new option for medication-resistant Parkinson’s disease (PD), but its safety and...  相似文献   
60.
BackgroundIn the first year of dialysis, patients are vulnerable to cardiovascular disease (CVD) hospitalization, but knowledge regarding the risk factors and long-term outcomes of cardiovascular readmission within the first year after dialysis in incident continuous ambulatory peritoneal dialysis (CAPD) patients is limited.MethodsThis retrospective cohort study was conducted in incident CAPD patients. The demographic characteristics, laboratory parameters, and CVD readmission were collected and analyzed. The primary outcome was all-cause mortality, and the secondary outcomes included CVD mortality, infection-related mortality and technique failure. A logistic regression was used to identify the risk factors associated with CVD readmission within the first year after dialysis. Cox proportional hazards models were used to evaluate the association between CVD readmission and the outcomes.ResultsIn total, 1589 peritoneal dialysis (PD) patients were included in this study, of whom 120 (7.6%) patients had at least one episode of CVD readmission within the first year after dialysis initiation. Advanced age, CVD history, and a lower level of serum albumin were independently associated with CVD readmission. CVD readmission within the first year after dialysis was significantly associated with all-cause (HR 2.66, 95%CI 1.91–3.70, p < 0.001) and CVD (HR 3.42, 95%CI 2.20–5.31, p < 0.001) mortality, but not infection-related mortality or technique failure, after adjusting for confounders.ConclusionsOur findings suggest that an advanced age, a history of CVD, and a lower level of serum albumin were independently associated with CVD readmission. Moreover, CVD readmission was associated with all-cause and cardiovascular mortality in incident CAPD patients.  相似文献   
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