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1.
目的探讨脊髓小脑共济失调2型(SCA2)致病基因ATXN2异常等位基因中间重复个体的表型和分子遗传学特点。方法针对2005—2018年中日友好医院神经科运动障碍与神经遗传病研究中心收集的1383个常染色体显性遗传共济失调家系的先证者和部分家系成员,采用荧光标记毛细管电泳片段分析方法进行动态突变检测,对携带ATXN2基因中间重复的个体进行临床表型和遗传特征分析。结果共检出163个家系(包含先证者和家系成员共203人)携带异常扩展的ATXN2基因CAG重复序列,其中93个家系中有107例的异常扩展等位基因重复次数在29~34次之间。在其中的20个亲子对中,父系遗传16个,异常等位基因的代间扩展增加0~28次,母系遗传4个,异常等位基因的代间扩展增加0~4次。结论对于临床拟诊SCA2家系患者,需对其亲代或成年子代个体进行ATXN2基因检测,以免漏诊。动态突变基因检测有助于识别中间重复的个体,对明确家系致病基因和遗传咨询至关重要。 相似文献
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《Biomedical and environmental sciences : BES》2022,35(9):773-781
ObjectiveImprovement in the quality of life is reflected in the narrowing of the gap between health-adjusted life expectancy (HALE) and life expectancy (LE). The effect of megacity expansion on narrowing the gap is rarely reported. This study aimed to disclose this potential relationship.MethodsAnnual life tables were constructed from identified death records and population counts from multiple administrative sources in Guangzhou, China, from 2010 to 2020. Joinpoint regression was used to evaluate the temporal trend. Generalized principal component analysis and multilevel models were applied to examine the county-level association between the gap and social determinants.ResultsAlthough LE and HALE in megacities are increasing steadily, their gap is widening. Socio-economic and health services are guaranteed to narrow this gap. Increasing personal wealth, a growing number of newborns and healthy immigrants, high urbanization, and healthy aging have helped in narrowing this gap.ConclusionIn megacities, parallel LE and HALE growth should be highly considered to narrow their gap. Multiple social determinants need to be integrated as a whole to formulate public health plans. 相似文献
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Miju Bae Sung Woon Chung Chung Won Lee Up Huh Min Su Kim Seung Hwan Song 《Asian journal of surgery / Asian Surgical Association》2019,42(1):235-239
Background
In Leriche syndrome, postoperative graft thrombosis remains one of the most significant clinical challenges.Methods
We reviewed 51 patients who underwent surgery for aortoiliac occlusive disease at our hospital from January 2007 to December 2014. The factors associated with graft patency were determined using the Cox proportional hazard model.Results
The 2-year prosthetic graft patency rate was 72.5%. Younger age (p = 0.017, Odd ratio (OR) = 1.112), postoperative uncontrolled hypertension (p = 0.044, OR = 3.797), and associated Trans Atlantic Inter-Society Consensus for the Management of Peripheral Arterial Disease II (TASC II) D femoropopliteal lesion (p = 0.008, OR = 11.139) were significantly related factors for prosthetic graft patency after surgical repair. The existing comorbidities of the patients that indicated the need for axillo-bifemoral bypass seemed to be related to lower graft patency or other complications.Conclusions
For better graft patency after an open surgical repair of Leriche syndrome, strict postoperative hypertension control and distal run-off resolution are necessary. 相似文献6.
Pancreatic Panniculitis Associated with Allograft Pancreatitis and Rejection in a Simultaneous Pancreas–Kidney Transplant Recipient 总被引:1,自引:0,他引:1
J. L. Pike J. C. Rice R. L. Sanchez E. B. Kelly B. C. Kelly 《American journal of transplantation》2006,6(10):2502-2505
Pancreatic panniculitis is an uncommon condition that can occur in association with pancreatic disease. We present a case of pancreatic panniculitis in a female pancreas-kidney transplant recipient 5 months post-transplant. The patient was on standard immunosuppressive medications and had acute rejection of her renal allograft. The diagnosis of allograft pancreatitis and rejection presenting with pancreatic panniculitis was supported clinically, histopathologically and by laboratory and imaging data. This is the fourth case of pancreatic panniculitis occurring in a transplant recipient and the first in a simultaneous pancreas-kidney transplant recipient. It is also the first case associated with allograft rejection. Clinicians should be aware that pancreatic panniculitis may be a manifestation of underlying allograft pancreatic disease. 相似文献
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塞来昔布对大鼠心脏移植急性排斥反应的抑制作用 总被引:2,自引:0,他引:2
目的观察塞来昔布对大鼠心脏移植急性排斥反应的抑制作用。方法以SD大鼠为供者,Wistar大鼠为受者,进行40次腹部异位心脏移植。采用HE染色和原位末端标记(TUN EL)技术检测移植心切片,进行排斥反应的病理分级并计算移植心肌细胞的凋亡指数(AI)。结果移植心的细胞凋亡主要发生于心肌细胞;移植后第3、5d,塞来昔布治疗组心肌细胞凋亡指数分别为:1.03±0.42和3.28±2.42;对照组分别为2.35±1.51和11.35±3.46;两组比较,差异有统计学意义(P<0.001)。结论细胞凋亡是心脏移植急性排斥中组织损伤的重要机制;塞来昔布能明显抑制心肌细胞凋亡。 相似文献
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主要阐述空调水系统利用平衡阀调节系统阻力,保持系统水力稳定;利用软启动器实施水泵的平滑软启动;压差旁通阀的作用及选型安装;系统管道热膨胀等问题。 相似文献
9.
R. H. Wiesner B. J. Steffen K. M. David A. H. Chu R. D. Gordon J. R. Lake 《American journal of transplantation》2006,6(7):1609-1616
Mycophenolate mofetil (MMF) used in a triple-drug regimen has been shown to decrease acute rejection rates, compared to a double-drug regimen. The impact of MMF on late acute rejection (LAR) episodes has not been well described. To investigate the risk of LAR (rejection > or = 6 months post-transplantation) data from the Scientific Registry of Transplant Recipients (SRTR) were used. We studied adult primary liver transplant recipients transplanted between June 1, 1995, and April 30, 2004, with hepatitis C virus (HCV) (n = 3356), hepatitis B virus (HBV) (n = 550) or a nonviral (n = 5740) primary cause of liver disease who were recorded as receiving continuous 3-(MMF + Tacro + steroids) versus 2-drug (Tacro + steroids) therapy for at least 6 months immediately post transplantation. Kaplan-Meier analysis showed significantly lower LAR rates 4 years post-transplant in 3- versus 2-drug HCV, HBV and nonviral disease patients. Multivariate regression confirmed 3- versus 2-drug therapy to be associated with a decreased risk of LAR. Late graft survival was significantly lower at 4 years post-transplant for patients with LAR 6-12 months post-transplantation versus patients with early rejection (78.0% vs. 87.0%, p < 0.001) and no rejection (88.1%, p < 0.001). Three-drug versus 2-drug therapy for a minimum of 6 months may offer a better treatment strategy to avoid the consequences and expense of LAR episodes. 相似文献
10.
研究了预脱水鱼片含水量、微波功率、真空度对真空微波加工香脆鳙鱼片品质的影响,在此基础上,采用混合正交试验进一步优化了真空微波制备香脆鳙鱼片的工艺条件。研究结果表明,适宜的水分含量和微波功率可以提高鱼片的膨化率和脆度,改善鱼片的感官品质。高真空度可以改善鱼片的膨化作用和脆性,提高微波加热的效率,很大程度上避免了鱼片出现焦黑点。最佳的真空微波加热条件是预脱水鱼片水分质量分数控制在(15.3±1)%(50℃鼓风干燥3.5 h),微波功率设定为高火档(686±3.5)W,在真空度0.095 MPa下加热12 s后,间歇摇匀后再加热10 s。 相似文献