兰州地区孕中期产前筛查血清指标MoM值分析

目的分析兰州地区孕中期唐氏综合征（Down syndrome,Ds）筛查人群中位数分布并探讨其临床应用价值。方法采用时间分辨荧光分析法检测7172例妊娠14—20“周妊娠女性血清甲胎蛋白（alpha fetoprotein,AFP）和游离绒毛促性腺激素（free—beta human chorionic gonadotropin,Freeβ—HCG）的浓度。利用DS筛查风险评估软件（LifeCycle3．0,LC3．0）的MediansTool统计不同孕用AFP和Freeβ-HCG的人群中位数、体质量,对LC3．0的中位数方程、体质量校正方程系数进行修正。结果各孕周血清AFP中位数平均水平均比软件内嵌值低,而Freeβ-HCG中位数水平在孕17周前中位数高于软件内嵌值而孕17周后中位数则低于软件内嵌值。各体重血清AFP与软件内嵌值几乎吻合,而Freeβ-HCG中位数平均水平比软件内嵌值低。结论不同地区血清中位数的筛查切割值制定标准可能存在差异,有必要进一步建立本地区孕中期产前筛查人群中位数系统。     

Real-time screening tool for identifying post-traumatic stress disorder in facial trauma patients in a UK maxillofacial trauma clinic

Post-traumatic stress disorder (PTSD) is a distressing consequence of a traumatic event associated with an increased suicide risk and reduced quality of life. Surgeons often have low confidence in identifying psychological problems. The prevalence of PTSD following facial trauma ranges from 23% to 41%. This highlights the importance of identifying and managing at-risk patients to optimize both mental and physical recovery. IMPARTS (Integrating Mental and Physical healthcare: Research, Training and Services) provides electronic screening tools to guide the non-mental health clinician in the ‘real-time’ identification, documentation, and management of potential mental health problems. The bespoke IMPARTS facial trauma screening tool was piloted in a UK oral and maxillofacial surgery trauma clinic from July 2015 to November 2017. A total of 199 patients completed screening, with 48 (24%) screening positive for possible PTSD. Further analysis of these 48 patients revealed that four (8%) had PTSD symptoms alone; three (6%) also screened positive for depression, 17 (35%) for co-existing symptoms of anxiety, and 24 (50%) for PTSD, anxiety, and depression. IMPARTS was found to be a highly effective tool aiding the non-mental health clinician to screen for PTSD and initiate prompt management. The data captured informs planning of the psychological support service.     

Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening

This study examines trends and geographical differences in total and live birth prevalence of trisomies 21, 18 and 13 with regard to increasing maternal age and prenatal diagnosis in Europe. Twenty-one population-based EUROCAT registries covering 6.1 million births between 1990 and 2009 participated. Trisomy cases included live births, fetal deaths from 20 weeks gestational age and terminations of pregnancy for fetal anomaly. We present correction to 20 weeks gestational age (ie, correcting early terminations for the probability of fetal survival to 20 weeks) to allow for artefactual screening-related differences in total prevalence. Poisson regression was used. The proportion of births in the population to mothers aged 35+ years in the participating registries increased from 13% in 1990 to 19% in 2009. Total prevalence per 10 000 births was 22.0 (95% CI 21.7–22.4) for trisomy 21, 5.0 (95% CI 4.8–5.1) for trisomy 18 and 2.0 (95% CI 1.9–2.2) for trisomy 13; live birth prevalence was 11.2 (95% CI 10.9–11.5) for trisomy 21, 1.04 (95% CI 0.96–1.12) for trisomy 18 and 0.48 (95% CI 0.43–0.54) for trisomy 13. There was an increase in total and total corrected prevalence of all three trisomies over time, mainly explained by increasing maternal age. Live birth prevalence remained stable over time. For trisomy 21, there was a three-fold variation in live birth prevalence between countries. The rise in maternal age has led to an increase in the number of trisomy-affected pregnancies in Europe. Live birth prevalence has remained stable overall. Differences in prenatal screening and termination between countries lead to wide variation in live birth prevalence.     

0.5 Mb Array as a First‐Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice

Using whole‐genome array testing instead of karyotyping in prenatal diagnosis for all indications may be desirable because of the higher diagnostic yield and shorter reporting time. The goal of this research was finding the optimal array resolution that could replace routine prenatal karyotyping in cases without ultrasound abnormalities, for example, referred for advanced maternal age or abnormal first trimester screening. As variants of unknown clinical significance (VOUS), if reported, might complicate decision‐making about continuation of pregnancy, such an optimal array resolution should have a high abnormality detection rate and reveal a minimal amount of VOUS. The array data of 465 fetuses were retrospectively evaluated with several resolution levels, and the Decipher microdeletion/microduplication syndrome list was reviewed to assess what could be theoretically missed with a lower resolution. A 0.5‐Mb resolution showed a high diagnostic yield potential and significantly minimized the number of VOUS. Based on our experience, we recommend genomic SNP array as a first‐tier test in prenatal diagnosis. The resolution should be chosen based on the indication. In cases of fetal ultrasound abnormalities or intrauterine fetal death (IUFD), high‐resolution analysis should be done. In other cases, we advise replacing karyotyping by SNP array analysis with 0.5 Mb resolution.     

Kinematic and Kinetic Predictors of Y-Balance Test Performance

BackgroundThe Y-Balance Test (YBT) assesses dynamic stability and neuromuscular control of the lower extremity. Several authors have analyzed kinematic predictors of YBT performance with conflicting results, but the influence of kinetic factors is not well understood.PurposeTo examine kinematic predictors of YBT performance and determine the joint kinetics which predict YBT performance.Study DesignCross-sectional study.MethodsThirty-one physically active individuals performed YBT trials on a force plate while whole body kinematics were recorded using a motion capture system. Sagittal, frontal, and transverse plane joint kinematics and joint moments were calculated at maximum reach in each YBT reach direction. Variables correlated with reach distances at the p < 0.2 level were entered into a stepwise linear regression.ResultsIn the anterior direction, knee flexion and torso rotation (R²=0.458, p<0.001) and knee extensor and hip abductor moments (R²=0.461, p<0.001) were the best kinematic and kinetic predictors of reach distance. In the posterior medial direction, hip flexion, ankle dorsiflexion, and ankle rotation accounted for 45.8% of the variance in reach direction (p<0.001) while hip and knee extensor, and hip abductor moments explained 72.6% of the variance in reach distance (p<0.001). In the posterior lateral direction, hip flexion and pelvic rotation (R²=0.696, p<.001) and hip extensor moments (R²=0.433, p=0.001) were the best kinematic and kinetic predictors of reach distance.ConclusionThe ability to generate large hip and knee joint moments in the sagittal and frontal plane are critical for YBT performance.Level of Evidence3.     

四川攀枝花地区健康成年体检人群外周血血小板及其相关参数生物参考区间的建立与评价

目的　探讨攀枝花地区健康成年体检人群血小板计数（PLT）、平均血小板体积（MPV）、血小板比容（PCT）、血小板体积分布宽度（PDW）和大型血小板比率（P-LCR）的生物参考区间,为临床诊疗提供更切合实际的依据。方法　回顾性分析2018年4～10月健康体检的抗凝静脉全血样本9 259例,用全自动血液分析仪检测,随机抽取符合要求的体检健康人群1 026例,其中男性502例,女性524例,年龄在17~57岁间,按性别和年龄分组,以均数±标准差（x±s）表示健康体检人群的结果,男女两组间采用两大样本均数比较的u检验,年龄组间的两两比较采用q检验,P-LCR采用两样本率比较的χ2检验,差异有统计学意义(P＜0.05)。生物参考区间采用x±1.96s,与相关标准比较,并验证新建立的参考区间。结果　攀枝花地区健康成人PLT生物参考区间男女有差异:男性(156～320)×109/L;女性(164～336)×109/L。而MPV,PCT,PDW-SD和P-LCR生物参考区间男女无差异:MPV 9.5~13.5fl,PC（0.18~0.36）×109/L,PDW-SD 9.2~19.8fl和P-LCR (21.3～48.7)%,但相同性别不同年龄组间P-LCR和PLT有差异,新建生物参考区间与相关标准有差异。结论　不同地区人群血小板及相关参数的生物参考区间存在差异,建立适合攀枝花地区健康成年人群的生物参考区间有现实价值,非常必要。     

心肺强化间歇训练对老年慢性阻塞性肺疾病康复期患者心肺氧合能力和运动能力的影响

目的研究心肺强化间歇训练对老年慢性阻塞性肺疾病(COPD)康复期患者心肺氧合能力和运动能力的影响。方法我院诊治的168例老年COPD患者,随机信封法分为常规组(83例)和强化组(85例),前者给予常规康复训练,后者在其基础上给予心肺强化间歇训练。比较两组干预前后心肺氧合能力、运动能力、血气指标和肺功能,评估患者生活质量。结果两组干预后心肺氧合能力各项指标水平均升高,且强化组高于常规组(P<0.05);两组干预后6 min步行实验(6MWT)、肺功能指标、各项生活质量指标水平均上升,COPD评估测试(CAT)评分下降,pH值、动脉血氧饱和度(SaO2)和氧分压(PaO2)水平均升高,二氧化碳分压(PaCO2)水平降低,且强化组上升或下降幅度大于常规组(P<0.05)。结论心肺强化间歇训练应用于老年COPD患者中,对于其心肺氧合能力、肺功能以及运动能力的提高均具有较好的促进作用,进而可改善患者血气指标和生活质量。     

长期住院精神分裂患者QTc间期延长影响因素分析

目的 探讨长期住院精神分裂症患者校正QT期间(QTc间期)延长的影响因素。方法 选取医院2017年3月1日至9月1日住院2年及以上的精神分裂症患者550例,调查内容包括一般社会人口学及临床相关资料,检测患者的心电图,记录QTc值。以QTc间期延长与否分组,对患者一般资料行χ^2检验,以多元回归分析导致QTc延长的因素。结果 550例患者中,56例(10.18%)患者存在QTc间期延长;延长组与非延长组患者的性别(χ^2=5.713,P<0.05)、年龄(χ^2=6.475,P<0.05)、用药情况(χ^2=3.873,P<0.05)有显著差异;男性(β=0.213,P<0.05)、年龄(β=0.296,P<0.05)和第1代抗精神病药物对QTc间期延长(β=0.789,P<0.05)影响较明显。结论 长期住院精神分裂症患者QTc间期延长发生率较高,其延长受性别、年龄、第1代抗精神病药物影响较明显。临床应予重视,防止猝死。