Quantitative genetic study of head size related phenotypes in ethnically homogeneous Chuvasha pedigrees

BACKGROUND: It is well established that genetic factors contribute significantly to the determination of head size and shape traits variability. However, the controversies in views and findings with respect to the more specific aspects of this issue have not yet been resolved. AIM: The primary objective of the study was to examine the patterns of the intergenerational familial transmission of 12 head size related traits in a large ethnically homogeneous sample of Chuvasha pedigrees. SUBJECTS AND METHODS: The research was carried out on 1406 individuals belonging to 357 nuclear and more complex families. Univariate and bivariate family-based analyses were performed to establish the pattern of head traits inheritance. RESULTS: Maximum heritability estimates ranged from 0.52 to 0.72 for traits adjusted for significant covariates. No significant sex differences were observed with respect to the genetic determination of the studied traits. Bivariate analysis of horizontal and vertical head size components suggested the existence of common genetic and environmental factors that explained 33.0% and 23.2% of the total variance of the adjusted traits, respectively. CONCLUSIONS: A significant genetic component is involved in inter-individual variation and covariation of various studied craniofacial traits.     

Phlebosclerosing treatment of telangiectasias of lower extremities

Our experiences include 124 patients (women) aged 25-50 years. Microsclerotherapy was used with 0.5% solution of etoxisclerole and 0.2% solution of fibrovein. The compressive microsclerotherapy proved to be an effective and harmless method of treatment of telangiectasias giving good cosmetic results and arresting clinical symptoms thus improving quality of life.     

Course of pulmonary hypertension in patients operated for rheumatic mitral heart disease

AIM: To study changes in pulmonary hypertension in patients with isolated mitral valvular defects of rheumatic etiology after surgical correction and in the early postoperative period. MATERIALS AND METHODS: Central hemodynamics in heart chamber probing before operation and intraoperatively were measured in 98 patients with rheumatic mitral defects (41 males, 57 females, mean age 39.5 +/- 8.74). Manometry before and after the defect correction, intraoperative catheterization (cath. Swan-Ganz) for hemodynamics 24-h follow-up were made. RESULTS: After valvular defect correction 90(91%) patients had residual pulmonary hypertension, stage II-III in 41%. CONCLUSION: Patients operated for rheumatic heart disease complicated by pulmonary hypertension often suffer from residual pulmonary hypertension. This requires pharmacological correction.     

尿微量蛋白与老年2型糖尿病合并缺血性心脏病关系的研究

目的探讨在老年2型糖尿病合并缺血性心脏病患者中尿微量蛋白在加重缺血性心脏病进展方面的作用。方法将66例老年2型糖尿病合并缺血性心脏病患者按24h尿微量蛋白排泄量分为:尿微量蛋白正常组及尿微量蛋白阳性组,分别对血脂、空腹血糖、血清胰岛素、胰岛素敏感指数、纤维蛋白原、颈动脉内-中膜厚度、颈总动脉粥样硬化等级积分、硬化斑块指数、心脏彩超室间隔厚度及射血分数等加重缺血性心脏病进展等指标进行比较分析。结果66例老年2型糖尿病合并缺血性心脏病患者尿微量蛋白阳性组高密度脂蛋白、载脂蛋白A、胰岛素敏感指数、年龄、纤维蛋白原、硬化斑块指数、颈总动脉粥样硬化等级积分、室间隔厚度及射血分数显著高于尿微量蛋白阴性组(P<0.05,P<0.01)。结论尿微量蛋白的出现能够加速糖尿病合并缺血性心脏病的发展进程,它的出现预示着缺血性心脏病的预后不良。     

Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples

The activity of urea cycle enzymes was assayed in duodenal biopsy specimens obtained from a female infant who presented with neonatal hyperammonaemia. All enzyme levels were normal except N-acetyl glutamate-dependent carbamyl phosphate synthetase 1 (CPS1) which was half the mean activity in normal control specimens. A similar deficiency of CPS1 was also shown in duodenal specimens from the patient's mother who became slightly symptomatic after relatively high protein meals and during pregnancy, and had spontaneously modified her diet to one with protein restriction. The patient is growing normally on a dietary regimen similar to that spontaneously adopted by her mother. Urea cycle enzyme activity in the duodenal biopsy material from the controls was similar to that found in the normal human liver and appears to have distinct advantages as a means of assaying for urea cycle defects in patients with hyperammonaemia and their relatives.     

虚拟模拟器在输尿管镜培训中应用的初步探讨

目的 评估虚拟模拟器UroMentorTM在输尿管镜培训中的应用价值. 方法 30名泌尿外科医师按单独完成输尿管镜例数＜ 20例和≥20例分成2组,分别为18名及12名.应用左输尿管下段取石模拟操作进行初评,包括:总操作时间、输尿管插管时间、损伤致出血点的数目、尝试插管次数以及综合总体评分(GRS),连续训练48 h后复评并与初评比较. 结果 经过模拟器训练后所有受试者总操作时间明显缩短[( 333±32)s及(228±18)s,P=0.001],GRS评分明显改善(24.4±2.1及28.1±1.2,P=0.010).少(无)经验组和有经验组初评总操作时间[(405±40)s及(262±22)s,P=0.014]、复评总操作时间[(276±12)s及(179±9)s,P=0.000]及初评GRS评分(19.6±2.5及29.2±1.3,P＝0.009)、复评GRS评分(25.0±1.1及31.2±0.7,P=0.002)差异均有统计学意义.独立完成的输尿管镜例数与GRS评分相关(初评r=0.705,复评r=0.756). 结论虚拟模拟器URO MentorTM可以成为输尿管镜技能培训及评估的有效工具.     

药用红树植物桐花树的生药学鉴别

目的 对药用红树植物桐花树药材进行生药学鉴别.方法 采用性状鉴别、显微鉴别、理化鉴别等方法进行研究.结果 桐花树的根坚韧,具皮孔,根皮层具木栓孔结构;茎横断面有木质部棕色同心环,中柱鞘有石细胞群和纤维束组成的厚壁细胞环,髓部有分泌腔散在;叶上、下表面有盐腺分布;粉末中可见石细胞、盐腺、气孔及导管等特征.紫外扫描有明显的吸收峰;薄层色谱展开良好.结论 上述特征可作为桐花树药材鉴定的参考依据.     

杆菌肽产生菌的诱变育种及培养基优化

以地衣芽孢杆菌Bacillus licheniformis SIPI-669-3为出发菌株进行诱变选育和发酵培养基优化,以提高杆菌肽产量.采用硫酸二甲酯(DMS)、紫外(UV)及钴-60(60Co)γ射线对SIPI-669-3进行诱变选育,并采用单因素试验和响应面法优化高产菌株发酵培养基.经过连续复合诱变,筛得高产突变株SIPI-γ93-14,产量较出发菌株提高了81.4％.优化后的发酵培养基碳、氮源为淀粉5.71％、豆粕10.0％和硫酸铵0.15％,此条件下杆菌肽产量较优化前提高14.5％.