Systematic evaluation of sensitivity and specificity of sibship determination by using 15 STR loci

Paternity disputes and other forms of kinship testing are routinely resolved using short tandem repeat (STR) DNA loci. Sibship determination is encountered in instances where the DNA profiles of two individuals are compared to determine if they are siblings. If either parent is available for testing then the situation is simplified but if neither parent of the two individuals is available for DNA testing, a combined sibling indices (CSI) for the determination of sibship between two people can be determined. Support for kinship is also based upon the sharing of alleles, particularly when both alleles are shared at the same locus, termed two-allele-sharing-loci (TASL). We report on the combination of CSI and TASL to enhance the determination of sibship. The 15 STR loci that comprise the Identifiler loci were applied to three populations using pairs of full siblings or unrelated pairs. Based upon the data obtained, the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) can be applied to determining whether two DNA profiles come from full or non-sibling pairs. This report highlights the problems inherent in this form of kinship testing and recommends a combination use of CSI and TASL for sibship determination.     

16例新生儿唇裂修复的回顾

目的　通过对 16例新生儿唇裂修复的回顾 ,评价新生儿时期唇裂修复术的优缺点。方法　根据近 5年的临床资料 ,选择两组唇裂患儿 ,分别为新生儿唇裂修复术组和 3个月时手术组 ,每组16例 ,两组患儿的畸形类型和手术条件尽可能相互匹配 ,通过随访比较手术效果 ,并对其家属进行问卷调查。结果　两组患儿均能很好地耐受手术 ,但新生儿手术组有两例术后复裂。手术切口瘢痕两组差异不明显。调查显示 ,两组患儿家属在患儿出生时都求医迫切 ;对术后效果的满意度 3个月时手术组稍高 ,为 86.7% ,新生儿组为 71.4% ,P >0 .0 5;新生儿手术组已有 42 .9%接受再次矫正术 ,而 3个月时手术组仅为 6.7% ,P <0 .0 5。结论　新生儿唇裂修复术可尽早消除畸形 ,缓解患儿家属的心理压力 ,但对术者的操作技能要求较高     

Ureteral implantation in peritoneum. Exceptional complication in renal transplantation

Because of the extraperitoneal location, generally used for renal grafting, intraperitoneal urine leaks are a rare complication after transplantation. We report a patient on peritoneal dialysis who developed ascites, abdominal pain, anuria and shock suddenly after renal transplantation. The patient was immediately taken back to the operating room. An abnormal implantation of ureter into the peritoneum overlying the bladder when carrying out an unstented parallel incision extravesical ureterone-ocystostomy was identified. After correcting ureter implantation the patient had immediate diuresis, renal function rapidly improved, with no further complications. Contributing causes were poor exposure, thickened peritoneum secondary to recurrent peritonitis, and the presence of residual peritoneal dialysis fluid.     

Preliminary evidence of polymorphisms of cell cycle regulatory genes and their roles in urinary tract urothelial cancer susceptibility and prognosis in a Taiwan population

Objective

Our aims were to investigate the correlations between polymorphisms in the cell cycle regulatory genes (aurora kinase A [AURKA], survivin, p21, and p53) and UC risk and prognosis.

手术器械质量现状的调查分析

目的了解手术器械的质量现状,为保障手术顺利及患者安全提供参考。方法便利抽取706份手术器械,共计26 445件进行完整性和功能性检测。结果检测的26 445件手术器械中,其中完好器械占38.6%,表面损伤器械占6.7%,需要修理器械占13.2%,需要替换的器械占41.5%。结论手术器械总体质量较差,应进行定期检测,及时发现和解决存在的问题,对供应室人员进行专业培训,合理确定手术器械的份数及配置,促进手术顺利进行。     

脊髓型颈椎病患者颈椎动态MRI检查价值与安全性分析

目的 探究脊髓型颈椎病（CSM）患者颈椎动态MRI（DMRI）检查的价值与安全性。方法 2019年1月—2021年9月,87例CSM患者于苏州大学附属第二医院行颈椎DMRI检查。在矢状面前屈、后伸和中立位MRI T2加权像上观察是否存在脊髓隐匿性压迫。记录患者在DMRI检查前后的症状及体征、疼痛视觉模拟量表（VAS）评分。以DMRI检查后原有症状或体征加重或出现新的症状与体征考虑为短期内脊髓损伤加重。结果 87例患者中17例（19.5%）存在脊髓隐匿性压迫,其中2例在前屈位MRI检查中发现,15例在后伸位MRI检查中发现。DMRI检查后73例患者无明显不适,出现颈肩部不适5例,轻度头晕4例,呼吸不畅、轻度胸闷3例,恶心2例,DMRI检查后VAS评分无下降。85例患者无脊髓神经损伤加重,2例脊髓钳夹伴MRI T2加权像高信号改变患者检查后症状、体征加重。结论 颈椎DMRI是一种相对安全的补充检查,19.5%（17/87）的CSM患者在屈、伸位MRI检查中可发现脊髓隐匿压迫,脊髓钳夹损伤伴MRI T2加权像高信号改变的CSM患者应慎行DMRI检查。     

普通外科恶性肿瘤患者术后下肢深静脉血栓形成预测模型的构建

背景与目的：下肢深静脉血栓形成（LDVT）是普通外科恶性肿瘤患者术后常见的并发症之一,严重影响患者的术后康复。目前的评估工具无法对LDVT患者进行更加细致的风险分层。因此,本研究探讨普通外科恶性肿瘤患者术后发生LDVT的影响因素,并建立可靠的预测工具,从而为LDVT的诊断和防治提供帮助。方法：回顾性分析2021年1月1日—2022年10月31日中南大学湘雅医院普通外科手术治疗恶性肿瘤患者的临床资料,根据良好设计的纳入、排除标准对病例进行严格的质量控制。使用已经较明确的LDVT的影响因素和一些重要临床特征作为分析变量,单变量分析和多变量分析用以评估LDVT的影响因素以及筛选模型的预测因子。应用编程软件制作基于Logistic回归的列线图并通过受试者工作特征曲线（ROC）评估列线图的预测性能,校准曲线用以评估预测模型与数据的拟合程度。使用决策曲线分析（DCA）比较预测模型与其他单一指标临床应用价值的差异。结果：本研究共纳入342例患者,其中LDVT组167例,对照组175例。单变量分析显示,1个月内有手术创伤史、高血压史、吸烟史、饮酒史、放疗史、ICU住院时间、红细胞（RBC）、血红蛋白（...     

CXCR4抑制剂对大鼠肺型氧中毒肺损伤的干预作用

目的：研究趋化因子受体4（chemokine receptor 4,CXCR4）特异性拮抗剂AMD3100在大鼠肺型氧中毒（ pulmonary oxygen intoxication）肺组织损伤中的干预作用。方法40只雄性SD大鼠随机分为常压空气PBS组、常压空气抑制剂组、纯氧暴露PBS组及纯氧暴露抑制剂组,每组10只。纯氧暴露PBS组及纯氧暴露抑制剂组利用0．23 MPa纯氧加压暴露,出舱后通过HE染色切片观察大鼠肺组织病理改变,ELISA法测定炎症因子TNF-α及IL-1β含量变化,应用Western印迹方法研究大鼠肺组织caspase-3含量变化。结果纯氧暴露抑制剂组大鼠肺组织淤血、水肿、出血与纯氧暴露PBS组相比程度较轻。纯氧暴露抑制剂组TNF-α、IL-1β及活化的caspase-3含量均低于纯氧暴露PBS组。结论应用AMD3100阻断CXCR4来减轻肺型氧中毒肺损伤是有效的。