Improved pairwise kinship analysis using massively parallel sequencing

In the present study, 67 individuals from two families were analyzed to explore the efficacy of the ForenSeq^™ DNA Signature Prep Kit for pairwise kinship analysis. Six types of pairwise relationships including 81 parent-offspring, 60 full siblings, 48 grandparent-grandchildren, 147 uncle/aunt-nephew/nieces, 97 first cousins and 190 non-relatives were generated from these two families and the corresponding likelihood ratio (LR) was calculated using either sequence-based or length-based STR genotype data (i.e., LR_sequence and LR_length). In addition, 10,000 pairs of different relationships were simulated to estimate the system powers of the STRs and SNPs in this panel. The results showed that 54, 9 and 5 additional alleles were observed based on sequence for 27 autosomal STRs, 24 Y-STRs and 7 X-STRs, respectively, compared to those based on length information and 11 novel alleles were identified. Five mutations were found for 58 STRs in 81 parent-offspring but no mutations were observed for SNPs. For 27 autosomal STR loci, the LRs were increased from 9.20, 7.87, 2.01, 2.07, 0.42 for log₁₀LR_length to 11.52, 10.12, 2.61, 2.60, 0.52 for log₁₀LR_sequence for paternity index (PI), full siblings index (FSI), grandparent-grandchild index (GI), uncle/aunt-nephew/niece index (UNI) and first cousins index (FCI), respectively. PI values for 94 SNPs separated more than those of 27 STRs if two individuals were non parent-offspring relatives. For the simulation study, the effectiveness was 1 for the parent-offspring relationship at the thresholds of t₁ = − 4 and t₂ = 4 and was 0.9998 for full siblings (t₁ = − 2, t₂ = 2). With an error rate of 0.42%, 93.02% of second degree relatives could be identified at the thresholds of t₁ = − 1 and t₂ = 1. However, the effectiveness was only 0.4300 for first cousins with a relatively high error rate of 2.68% (t₁ = − 1, t₂ = 1). In conclusion, STR typing according to the sequence information is more polymorphic, which increases the discrimination power for kinship testing. Compared to these 27 STR markers, 94 SNP markers in this panel have advantages in paternity testing especially when mutated STRs are involved or when a relative is an alleged parent. This panel is powerful enough to resolve paternity and full sibling testing. Most of the second degree relationships could be identified with low error rate while more markers are still needed for first cousins testing.     

慢性阻塞性肺疾病患者肺癌高危筛查的研究进展

肺癌和慢性阻塞性肺疾病(COPD)是两种密切相关的疾病,对公共卫生有很大影响。每年对胸部进行低剂量计算机断层扫描的筛査可以显著降低肺癌病死率。COPD与肺癌发病风险增加有关。流行病学研究发现COPD患者与无气流阻塞的患者相比,肺癌风险增加2〜4倍。COPD合并肺癌发病风险增加似乎是由于肺气肿引起的。肺气肿已被证明是一个重要的肺癌危险因素。COPD合并肺癌筛査评分以确定COPD合并肺癌发病高危人群,是COPD人群肺癌筛查的一项有益的探索.需要更多临床实践的证明。     

苏州市初治菌阴肺结核患者就诊延迟现况及临床特征

目的 分析初治菌阴肺结核患者就诊延迟现况及临床特征,为制定有效措施提供科学依据。方法 应用横断面研究,收集苏州市5家结核病定点医院初治菌阴肺结核患者人口学、经济来源、生活方式、结核病知识、主要病史及进入结核病定点医院前发病和就诊等临床资料,采用Logistic回归方法进行统计分析。结果 379例初治菌阴肺结核患者就诊延迟186例,就诊延迟率为49.08%。老年人(OR=1.898,95% CI=1.157~3.112,P=0.011)、日工作时间大于8 h(OR=1.774,95% CI=1.014~3.102, P=0.044)、流动人口(OR=3.252; 95% CI=1.807~5.855, P<0.001)和发热(OR= 2.061,95% CI=1.021~4.160,P=0.043)是初治菌阴肺结核患者发生就诊延迟的危险特征,而咯血(OR= 0.356, 95% CI= 0.164~0.773,P=0.009)是就诊延迟的保护特征。结论 初治菌阴肺结核患者就诊延迟现象较严重,需对不同临床特征的患者采取综合干预措施,减少就诊延迟发生。     

风湿免疫科长期口服糖皮质激素患者的知信行现状及药学监护

目的： 分析风湿免疫科长期口服糖皮质激素患者的知信行（knowledge-attitude-practice，KAP）现状及其影响因素；考察药学监护对KAP的影响，促进糖皮质激素在临床的合理应用。方法： 选取某三甲医院风湿免疫科门诊长期口服糖皮质激素患者246例，随机分为干预组和对照组（1：1），入组时采用一般资料调查表、自行设计的疾病与用药知识问卷、汉化的患者服药信念特异性量表（Brief medication questionnaire，BMQ）、Morisky药物依从性量表（Morisky medication adherence scale，MMAS-8）分析KAP现状及其影响因素，临床药师对干预组患者薄弱方面进行针对性干预，对照组进行常规教育。6个月后比较两组患者的KAP维度改善情况、不良反应发生率和疾病控制情况。结果： 风湿免疫科长期口服糖皮质激素的患者知识得分（3.08±3.80）分，信念得分（0.96±2.95）分，行为得分（5.40±1.81）分，且自我管理知识、信念、行为三者之间均相关（P<0.01）。年龄和文化程度是影响患者自我管理知识的主要因素（P<0.01），病程是影响患者自我管理信念、行为得分的主要因素（P<0.01）。6个月后，干预组的KAP维度得分均较对照组有显著提高（P<0.05）；干预组的不良反应发生率低于对照组（52.03 %vs 57.72%）、疾病控制情况优于对照组（61.78 %vs 54.47%），但无统计学差异（P>0.05）。结论： 风湿免疫科长期口服糖皮质激素的患者自我管理KAP水平有待加强，临床药师针对其影响因素进行药学监护可显著提高其KAP水平，改善疾病控制水平。     

Lee-Carter模型在苏州市消化道癌症死亡分析中的应用

  目的  通过建立Lee-Carter模型，分析苏州市2002-2016年消化道癌症的死亡特征和变化趋势。  方法  采用苏州市死因监测点居民的消化道癌症死亡数据，计算死亡率和标化死亡率，并建立Lee-Carter死亡率预测模型，进行死亡率的趋势分析。  结果  以苏州市2012-2016年消化道癌症死亡率数据检验模型的应用效果，其平均绝对百分误差（mean absolute percentage error，MAPE）值在年龄和年份水平上分别为2.48%、4.13%，表明模型预测效果较佳；2002-2016年消化道癌症总体的死亡指数呈下降趋势，其中上消化道癌症死亡指数呈现下降趋势，下消化道癌症死亡指数呈现上升趋势；上消化道癌症死亡率是下消化道癌症死亡率的4.23倍，男性死亡率是女性死亡率的2.17倍。  结论  苏州市居民消化道癌症死亡率总体呈逐年下降趋势，其中下消化道癌症男性死亡率呈逐年上升趋势。本研究发现苏州市已出现人口老龄化现象，其医疗卫生水平逐年提高。