Testing for familial aggregation of functional traits

In a genetic epidemiology study of a trait, prior to collecting genotype data the foremost task is to test for familial aggregation and examine heritability. Recently, functional traits have drawn attentions from investigators. Here, to test for familial aggregation of a functional trait in the family studies, a test constructed based on the leading functional principal component of heritability, which is a summary measure of temporal genetic variation in a functional trait, is proposed. The p‐value of the test can be approximated by a permutation procedure given the family structure. The asymptotic distribution of the test statistic is derived. Simulations are carried out to examine the size and the power of the test. The proposed methods are applied to the total cholesterol data in the Framingham Heart Study. Copyright © 2009 John Wiley & Sons, Ltd.     

食管癌患者血缘亲属及不同性别食管癌患病风险比较研究

目的 对比分析食管癌病例组与对照组血缘亲属食管癌患病风险,并了解食管癌家族中危险亲属人群患病的新线索.方法 采用病例对照研究方法 ,对食管癌病例组及对照组各720例进行逐层分析,以比较两组各血缘亲属父系、母系食管癌患病危险度(OR)的大小及差异.结果 (1)病例组Ⅰ级亲属食管癌患病危险度(1.34%～2.24%)显著高于对照组(0.78%～1.21%)(P＜0.01);Ⅰ级亲属中病例组父母亲食管癌患病危险度为6.11%,显著高于对照组父母亲食管癌患病危险度2.97%(P＜0O01).(2)以血缘亲属中父系和母系亲属逐层分析可见,病例组父系食管癌患病危险度(0.87%～1.01%)与母系患病危险度(0.50%～0.79%)均显著高于对照组父系食管癌患病危险度(0.53%～0.65%)与母系患病危险度(0.38%～0.47%)(P＜0.05).进一步分析显示,病例组父系中男性亲属与母系中女性亲属,即父系中祖父、父亲、叔伯食管癌患病危险度为2.68%与母系中外祖母、母亲、姨的食管癌患病危险度1.91%均显著高于对照组父系中男性亲属食管癌患病危险度1.50%与母系中女性亲属食管癌患病危险度0.92%(P＜0.01).结论 山西省食管癌患者血缘亲属发病危险主要是父亲及其兄弟、母亲及其姐妹,其下代患食管癌风险要大.     

补肾益气逐浊法治疗ABO溶血致习惯性流产的临床研究

目的观察补肾益气逐浊法治疗ABO溶血所致习惯性流产的临床疗效。方法将152例患者随机分为两组，治疗组98例，用补肾益气逐浊法，选用黄芪、菟丝子及蚕砂颗粒剂口服；对照组54例，口服胸腺肽肠溶胶囊等。结果在降低血清抗体效价方面，治疗组总有效率为95．9％，对照组为51．9％；在妊娠疗效方面，治疗组总有效率为95．9％，对照组为42．1％。治疗组疗效明显优于对照组（P〈0．01）。结论补肾益气浊法治疗ABO溶血所致的习惯性流产疗效显著。     

Bone growth patterns in Chinese children and adolescents: a 6-year follow-up study provides evidence for sexual dimorphism and tracking

Summary We prospectively examined bone growth patterns in 894 children aged 6–17 years at the baseline visit, with a 6-year follow-up. Results show bone “tracking” over a six-year interval and sexual dimorphism of bone attained levels and timing of peak bone growth. Our findings underscore childhood and adolescence as critical periods for building bone and developing gender differences. Introduction Bone growth patterns were prospectively examined in 894 Chinese children (496 males), aged 6–17 yrs, from a population-based twin cohort. Whole-body bone area (BA), bone mineral content (BMC), and bone mineral density (BMD) were measured by DEXA at baseline and a 6-yr follow-up. Methods Graphic smoothing plots and generalized estimating equations were used to model bone attained levels, growth, and “tracking”. Results Attained levels of BMC and BA increased curvilinearly with age. Male attained levels were higher than females after age ∼15 yr, but BMD was lower between 13–17 yrs (Tanner stage I to IV). In both genders, peak BMC and BMD growth lagged ∼2 yrs behind peak BA growth, which lagged 2 yrs behind peak height growth. Peak bone growth occurred 1–3 yrs later in males. Over the 6-yr follow-up, all bone measurements “tracked”, but “shifting” across ranks also occurred, and baseline tertile ranking influenced bone growth. Females with early menarche had higher attained levels than females with late menarche at age 12–13 yrs. Conclusion Our findings confirm and expand previous studies on peak bone growth conducted in Caucasian cohorts, particularly sexually dimorphic and maturational effects. The significant “tracking” of bone measurements in this 6-yr follow-up study underscores the importance that osteoporosis prevention should begin in childhood and adolescence. Fengxiu Ouyang and Binyan Wang contributed equally to this article. Source(s) of support: This study is supported in part by grant R01 HD049059, R01 HL0864619 and R01 AR045651 from the National Institute of Health and by the Food Allergy Project.     

Hepatitis B immunity in adolescents and necessity for boost vaccination: 23 years after nationwide hepatitis B virus vaccination program in Taiwan

The first universal hepatitis B vaccination program for newborns in the world was launched in Taiwan in July 1984. Most studies on the effectiveness of hepatitis B vaccination focused on the seroprevalence of HBs Ag among children under 14 years old. Only few studies focused on the seropositivity of anti-HBs among adolescents aged 15–18 years old. The present study aimed to evaluate the impact of the nationwide hepatitis B vaccination program on the immunity to HBV infection and the necessity of boost among adolescents. In this study including eight annual seroprevalence surveys from 2000 to 2007, 2342 college entrants (1589 15-year-olds in group I and 753 18-year-olds in group II) and 1851 university freshmen (18-year-olds in group III) participated. Subjects identified anti-HBs, HBs Ag and anti-HBc negative were given boost three doses of HBV vaccine. The HBs Ag seroprevalence was 11.6%, 3.5% and 1.0% for participants who were born before 1984, 1984–1986 and after 1986. The anti-HBs-seropositive rates were significantly higher in group II (83.1%) than in group I (53.0%) and group III (53.5%). All 572 participants who were seronegative for anti-HBs, HBs Ag and anti-HBc became anti-HBs-seropositive after catch-up vaccination. It is concluded that the anti-HBs-seropositive rate decreased to 50% in 15 years after vaccination, and boost vaccination was 100% effective. The necessity and age for boost among anti-HBs negative adolescents and the timing of the first immunization should be further evaluated.     

宫腔镜在辅助生殖技术中的应用

目的：探讨宫腔镜检查术在辅助生殖技术中应用的重要性。方法：对150例拟行辅助生殖技术的不育妇女行常规宫腔镜检查。结果：宫腔镜150例中47例（31％）有镜下异常，其中：子宫内膜息肉或息肉样增生18例（12％），子宫内膜单纯性增生17例（11％），子宫畸形7例（5％），宫腔粘连狭窄3例（2％），子宫内膜结核1例（0．7％），子宫黏膜下肌瘤或腺肌瘤1例（0．7％）。以宫腔镜诊断为标准，阴道超声诊断敏感性、特异性、阳性预测值、阴性预测值、准确率分别为66％（31／47）、98％（101／103）、94％（31／33）、86％（101／117）、88％（132／150），子宫造影分别为26％（12／47）、100％（95／95）、100％（12／12）、73％（95／130）、75％（107／142）。结论：宫腔镜检查术具有良好的可接受性和准确性，应作为辅助生殖技术前的常规检查。     

现代医学200词——138．黏附分子

所谓黏附分子是指存在于细胞表面，参与细胞间或细胞与细胞外基质的粘附的分子群的总称。广义来说，纤维连结蛋白、层粘连蛋白、透明质酸等细胞外基质的构成成分也是由细胞分泌并存在于细胞表面，也可归入黏附分子的范畴。但狭义所指的黏附分子是指贯通细胞膜的糖蛋白或构成细胞膜的糖脂质。膜贯通型糖蛋白黏附分子按其构造特征可分为若干家族。在免疫系统中的黏附分子主要分为整合素家族、免疫球蛋白超家族、选择素家族、钙粘素家族、连接蛋白家族以及唾液粘蛋白家族等。     

Fat and water separation in balanced steady-state free precession using the Dixon method.

In this work the feasibility of separating fat and water signals using the balanced steady-state free precession (SSFP) technique is demonstrated. The technique is based on the observation (Scheffler and Hennig, Magnetic Resonance in Medicine 2003;49:395-397) that at the nominal values of TE = TR/2 in SSFP imaging, phase coherence can be achieved at essentially only two orientations (0 degrees and 180 degrees ) relative to the RF pulses in the rotating frame, under the assumption of TR < T2, and independently of the SSFP angle. This property allows in-phase and out-of-phase SSFP images to be obtained by proper choices of the center frequency offset, and thus allows the Dixon subtraction method to be utilized for effective fat-water separation. The TR and frequency offset for optimal fat-water separation are derived from theories. Experimental results from healthy subjects, using a 3.0 Tesla system, show that nearly complete fat suppression can be accomplished.     

Working‐correlation‐structure identification in generalized estimating equations

Selecting an appropriate working correlation structure is pertinent to clustered data analysis using generalized estimating equations (GEE) because an inappropriate choice will lead to inefficient parameter estimation. We investigate the well‐known criterion of QIC for selecting a working correlation structure, and have found that performance of the QIC is deteriorated by a term that is theoretically independent of the correlation structures but has to be estimated with an error. This leads us to propose a correlation information criterion (CIC) that substantially improves the QIC performance. Extensive simulation studies indicate that the CIC has remarkable improvement in selecting the correct correlation structures. We also illustrate our findings using a data set from the Madras Longitudinal Schizophrenia Study. Copyright © 2008 John Wiley & Sons, Ltd.