Genome-wide scan identified QTLs underlying femoral neck cross-sectional geometry that are novel studied risk factors of osteoporosis.

A genome-wide screen was conducted using a large white sample to identify QTLs for FNCS geometry. We found significant linkage of FNCS parameters to 20q12 and Xq25, plus significant epistatic interactions and sex-specific QTLs influencing FNCS geometry variation. INTRODUCTION: Bone geometry, a highly heritable trait, is a critical component of bone strength that significantly determines osteoporotic fracture risk. Specifically, femoral neck cross-sectional (FNCS) geometry is significantly associated with hip fracture risk as well as genetic factors. However, genetic research in this respect is still in its infancy. MATERIALS AND METHODS: To identify the underlying genomic regions influencing FNCS variables, we performed a remarkably large-scale whole genome linkage scan involving 3998 individuals from 434 pedigrees for four FNCS geometry parameters, namely buckling ratio (BR), cross-sectional area (CSA), cortical thickness (CT), and section modulus (Z). The major statistical approach adopted is the variance component method implemented in SOLAR. RESULTS: Significant linkage evidence (threshold LOD = 3.72 after correction for tests of multiple phenotypes) was found in the regions of 20q12 and Xq25 for CT (LOD = 4.28 and 3.90, respectively). We also identified eight suggestive linkage signals (threshold LOD = 2.31 after correction for multiple tests) for the respective geometry traits. The above findings were supported by principal component linkage analysis. Of them, 20q12 was of particular interest because it was linked to multiple FNCS geometry traits and significantly interacted with five other genomic loci to influence CSA variation. The effects of 20q12 on FNCS geometry were present in both male and female subgroups. Subgroup analysis also revealed the presence of sex-specific quantitative trait loci (QTLs) for FNCS traits in the regions such as 2p14, 3q26, 7q21 and 15q21. CONCLUSIONS: Our findings laid a foundation for further replication and fine-mapping studies as well as for positional and functional candidate gene studies, aiming at eventually finding the causal genetic variants and hidden mechanisms concerning FNCS geometry variation and the associated hip fractures.     

功能性消化不良的突出症状与临床特征及病理生理学机制的关系

背景与目的：功能性消化不良（FD）被认为是一类由不同病理生理原因导致的多种机能紊乱而促发的症状。Rome Ⅱ委员会建议将具有同种病理生理学及临床特征的FD患划分为感觉明显疼痛组和感觉不适组两个亚组。该研究旨在分析显疼痛或感觉不适与病理生理学机制间的关系，评价是否考虑到个体的显性症状将会产生更好的结果。方法：持续性FD患（n=720；489例女性；年龄41．3±0．6岁）填写消化不良调查问卷并确定出最令人烦恼的症状。分析此显症状在人口统计学、临床、病理生理学特点上的相互联系（研究592例患幽门螺杆菌感染、胃排空情况，对332例患行胃敏感性、顺应性试验）。结果：根据Rome Ⅱ标准，22％疼痛明显，78％不适感明显。疼痛明显的患超敏性的发生率较高（44％ vs 25％），且在这些病例中观察到的胃排空迟缓较少出现（16％ vs 26％），但是有较多的重叠。详细分析表明可能有8种消化不良症状其中之一较为突出。     

Dynamic observation on thyroid function in severe head injury.

The dynamic changes of thyroid hormone levels in patients with severe head injury were observed. The results showed that the serum thyroid hormone levels changed rapidly within several hours after the injury and the mean levels of serum total T3 and T4 (TT3, TT4) decreased while high reverse triiodothyronine (rT3) increased significantly. Serum TT3, TT4 and rT3 levels returned to normal gradually in 2 to 3 weeks after the injury in the surviving group, whereas serum total T4 gradually declined and rT3 steadily increased in the fatal group. The mean levels of serum TSH remained unchanged in both groups. Therefore, the use of the levels of serum thyroid hormones as adjuvant indices can be helpful in making pertinent judgements of the severity and prognosis of severe head injuries.

     

不同婴儿食品铝含量的测定

本文应用原子吸收光谱法测定母乳、牛奶、奶粉及不同喂养方式婴儿血清中锌、铜、铁及铝含量。母乳中锌、铜、铁含量均较牛奶丰富，铝含量低于牛奶；奶粉中锌、铜、铁含量高于牛奶，与母乳无显著差异，铝含量高于牛奶。母乳、牛奶及奶粉喂养的贫血患儿血清铝含量无显著差异，均明显低于铝中毒的血清铝水平。     

自制与进口氯化十六烷基吡啶抑菌作用的比较研究

以液体稀释法比较了自制与进口十六烷基吡啶作用于4种口腔常见微生物的最低抑菌浓度和最低杀菌浓度的实验结果,经t检验证明两者间无显著差异,提示自制氯化十六烷基吡啶的药效质量可靠。并就控制接种菌量及杀菌机理等问题作了初步探讨。     

用DNAG C含量和DNA同源性测定法鉴定米克戴德军团菌

本文采用热变性温度法和液相复性速率法对—轻型特征及血清学反应相似米克戴德军团菌(Lm)的菌株进行了测定,结果表明该菌与标准Lm(C DC株)的DNA G Cmol％相差3.45％,与标准Lm(C DC株)的DNA同源性达81.99％,根据伯杰细菌鉴定手册(1984),可判定该菌株与标准Lm(C DC株)为遗传型一致的类群,即从遗传学角度证明该菌为Lm。     

人型支原体感染的血清流行病学研究

1989年3～4月对南京铁咯分局1423名健康人进行了人型支原体感染的血清流行病学调查。结果表明,人群中存在Mh感染抗体阳性率为3.72％,GMT为1:3.38。感染与性别、年龄、职业、婚姻、病史以及性接触等因素有关。提示该病是一种性传播疾病,应引起高度重视。     

系统性红斑狼疮肺胸膜病变(附50例报告)

50例SLE患者有肺胸膜病变,其中女性47例(94％),男性3例(6％),小于40岁者41例(82％)。50例中表现为胸膜炎和(或)胸腔积液26例,狼疮肺炎15例,弥漫性肺间质纤维化5例,肺不张3例,肺纹理增多17例。经激素治疗随SLE症状改善,肺胸膜病变好转。     

心脏病患者血清七种元素含量与血压及生化指标的关系

我们检测了心脏病患者血清微量元素Ｚｎ、Ｃｕ、Ｆｅ和常量元素Ｋ、Ｎａ、Ｃａ、Ｍｇ的含量，并与血压及生化指标作相关分析。结果发现心脏病患者Ｋ和Ｃａ／Ｍｇ显著低于对照组，而Ｎａ、Ｍｇ、Ｚｎ、Ｆｅ和Ｎａ／Ｋ、Ｚｎ／Ｃｕ则显著高于对照组。Ｋ、Ｃａ／Ｍｇ与血压呈负相关，而Ｎａ、Ｚｎ、Ｆｅ、Ｚｎ／Ｃｕ和Ｎａ／Ｋ与血压呈正相关；Ｆｅ与红细胞压积（Ｈｃｔ）呈正相关；Ｚｎ／Ｃｕ与Ｈｃｔ、甘油三酯、极低密度脂蛋白均呈正相关，而与高密度脂蛋白呈负相关。