糖尿病肾病基因分子机制的研究进展

糖尿病肾病（DN）是终末期肾功能衰竭的常见原因，其分子机制尚未完全阐明。通过对DN患者家系的基因连锁分析和病例对照研究，发现一些基因遗传标记的多态性和DN易感性有关，提示遗传基因在DN发病中扮演重要角色。应用实时逆转录-PCR、基因芯片等技术研究DN患者活检肾组织、DN动物模型及培养的肾脏细胞，发现许多基因的异常表达可引起细胞外基质增多、肾小球肥大和小管间质纤维化，从而可能参与了DN的病理生理过程。     

Familial intussusception

Purpose

Intussusception is one of the common causes of intestinal obstruction in early childhood. Although a genetic predisposition has been suggested in some cases, its etiology is considered to be incidental, and it has not been traditionally regarded as having any genetic basis. Authors report on cases of so-called idiopathic intussusception that demonstrate a strong familial tendency.

Materials

We reviewed medical records of idiopathic intussusception reduced in our institute between 1975 and 2004. There were 564 patients. Their parents and/or grandparents were interviewed directly or by telephone about the occurrence of familial intussusception.

Results

A family history of idiopathic intussusception, including third-degree relatives, was noted on 39 pedigrees. Occurrences between father and son were 1, mother and son 4, mother and daughter 2, mother and son and daughter 1 (sibling), siblings 10, sibling and cousin 1, uncle or aunt and nephew or niece 6, uncle and nephew and niece (cousin) 1, and cousins 13. Among 564 patients with idiopathic intussusception, 20 patients, both of 6 pairs of siblings and both of 4 pairs of cousins were treated in our institute. So in 554 pedigrees of idiopathic intussusception, the incidence of familial intussusception, including third-degree relatives, was estimated to be 7.0% or 1 in 14.2 cases.

Conclusion

We concluded that hereditary predisposition, such as anatomical basis, may be considered as an etiological factor in many cases of idiopathic intussusception. In these predisposed families, if they have inducements such as viral infections as the acquired agents, intussusception will occur very easily.     

关于肠易激综合征概念的几点认识

肠易激综合征（IBS）是与肠道动力和内脏感觉异常有关的功能性胃肠病。心理、社会、环境、遗传等因素在发病过程中起极为重要的作用。IBS多发生在伴有不同程度心理调节障碍、具有遗传特征的易患群体．有明显的家庭聚集现象。当前公认的罗马Ⅲ诊断标准是以临床症状学为依据,部分符合诊断标准的IBS患者．其肠黏膜可能存在免疫细胞浸润、免疫激活和轻微黏膜炎症,这种炎症在IBS中的潜在作用已引起人们的关注．目前尚无一种药物对IBS的治疗完全有效,IBS的治疗应遵循个体化治疗的原则,采取综合性治疗措施。未来需对IBS的病理学、免疫学和肠内微生态学有更全面的认识．以进一步思考IBS的诊断方式和标准。     

CYP1B1 and predisposition to breast cancer in Poland

Background The CYP1B1 gene is a polymorphic member of the P450 gene family and is considered to be a candidate gene for cancers of various types. Objective We inquired whether four SNPs in the CYP1B1 gene, alone or in combination, might be associated with breast cancer risk in Poland. Methods We genotyped 2017 cases of breast cancer and 876 controls, for four SNPs in the CYP1B1 gene. Genotype and haplotype frequencies were compared in cases and controls. Results In combinations of the R48G, A119S and L432V SNPs, four of the eight CYP1B1 haplotypes were more common in controls than in cases and each of these appeared to have a significant protective effect. A large reduction in risk was observed for women who were homozygous for one of these four haplotypes (OR = 0.2; 95%; CI = 0.05–0.5; P = 0.001) compared to women who were homozygous for the most common haplotype. In contrast, women who were homozygous for the GTC haplotype were at increased risk (OR = 1.5; 95%; CI = 1.0–2.1; P = 0.03) compared to women with the most common haplotype. Conclusions The CYP1B1 gene appears to influence breast cancer susceptibility in Poland.     

卵巢早衰的病因学研究进展

卵巢早衰(POF)是指女性在40岁以前自然绝经,人群发病率1～3%,近年来发病率呈上升趋势。POF的发病原因尚不清楚,发病因素复杂,大部分POF患者无明确病因。POF的发生与遗传因素、先天性酶缺陷、物理化学性损害、免疫性损害、促性腺激素作用障碍等有关。了解POF的发病因素,将有助于预防其发生并改善其临床治疗。     

上海市徐汇区病残儿鉴定及第二胎25年随访研究

目的研究经病残儿医学鉴定后允许生育者第二胎的情况,为生育第二胎的政策制定和提高出生人口素质提供依据。方法对上海市徐汇区1981年~2004年申请病残儿鉴定的疾病进行分类;对允许生育二胎的病残儿家庭进行随访,了解是否生育第二胎及其健康情况。结果25年来申请生育二胎的病残儿鉴定共520例,其中神经系统疾病258例（49.6%）,其它依次为循环系统疾病、先天畸形及染色体异常、眼部疾病等;智力低下（MR）233例（44.8%）。经鉴定允许生育第二胎的485例,占鉴定总数93.3%。随访到其中的459例,随访率为94.6%。实际生育第二胎348例、其中正常313例（89.9%）,妊娠异常终止的13例,低出生体重儿7例、儿童死亡4例、病残儿12例（其中MR7例,占58.3%）。儿童死亡和病残儿占生育第二胎的4.6%。结论生育二胎前的病残儿鉴定能在一定程度上降低二胎的病残风险,达到优生优育的目的,但现行标准允许生育二胎的对象中,仍有少数同病率发生,特别是中重度MR的二胎的同病风险率偏高,值得进一步探讨。     

常德地区精神遗传病调查情况分析

目的多层面的了解常德市精神遗传病的情况,为其预防提供参考.方法对精神障碍门诊病例、住院病例、精神与智力残疾鉴定病例进调查查分析.结果与遗传有关的病例分别占门诊病的的78.8%、住院病例的87.4%、精神与智力残疾病例90.1%.精利发育迟滞和精神分裂症是致残的主要原因,占80.3%.农村患者约占2/3.结论遗传病问题在精神障碍中非常突出,其预防极为重要,防治的主要病种应为精神分裂症和精神发育迟滞.精神疾病防治的重点应放在农村.预防应从早期开始.     

遗传相关性大肠癌14例临床分析

目的了解遗传相关性大肠癌的临床特点。方法对120例大肠癌进行家系调查，对其中14例具有遗传相关性大肠癌的家系临床资料进行分析。结果具有遗传相关性大肠癌占同期大肠癌的11．67％，大肠癌一家族中有一级亲属两人以上发病的6个家族，占总的发病家族的1／20，而6个发病家族的发病人数为14人。占6个大肠癌家族一级亲属总人数（84人）的1／6。结论具有遗传背景的大肠癌家族成员是不可忽视的易感人群，临床上应提高对大肠癌病人家族调     

Heritability and "environmentability" of electroencephalogram in infants: the twin study

We estimated relative contribution of genetic and environmental factors to electroencephalogram (EEG) frequency and amplitude parameters in infants. EEG was registered in 49 pairs of monozygotic and 45 pairs of dizygotic twins aged 7-12 months during (1) visual attention and (2) darkness. The variability of occipital alpha frequency depended mainly on genetic, probably nonadditive factors. The mean heritability for the spectral amplitudes in the delta, theta, and alpha bands were 0.37, 0.13, and 0.22 during visual attention, and 0.22, 0.40, and 0.10 during darkness. The influence of shared environment was probable for many of the EEG parameters. It was greatest for the amplitude of the theta rhythm during visual attention. The theta amplitude depended on such a parameter of early social environmental enrichment as the number of caregivers in the family. The possible relationship between infant theta rhythm and developmental outcome is discussed. For many of the EEG parameters, heritability increased during the second half of the first year of life, thus supporting the hypothesis about amplification of genetic effects and decrease of common environmental influences with age.     

Transient red cell aplasia in siblings: a common environmental or a common hereditary factor?

During the years 1987-89, transient erythroblastopenia of childhood was diagnosed in 52 previously healthy Swedish children aged less than 4 y. Among these children there were four pairs of siblings, including one pair of identical female twins. This is a much higher familial occurrence than expected. The probability of finding 4 pairs of siblings with this disease in 50 families was estimated to be considerably less than 10-6. In the retrospectively analysed material, no environmental factor was implicated and no association with human leucocyte antigen could be proven. The twins demonstrated the disease simultaneously. Their anaemia was transient and did not recur, but showed certain features usually seen in congenital hypoplastic anaemia. The other pairs of siblings fulfilled the criteria for transient erythroblastopenia of childhood and several years elapsed between the development of the disease in siblings. Two of the fathers were reported to have had transient anaemia during their childhood. Our findings indicate that transient erythroblastopenia of childhood may involve hereditary factors, eventually demonstrating an autosomal dominant inheritance.