复发性流产患者病因构成分析

背景　复发性流产（RSA）发病率呈逐年上升趋势，严重影响妇女身心健康，目前现代医学对RSA的病因和发病机制尚未完全明确。目的　了解RSA病因的分布情况，以及流产孕周与流产次数和RSA病因之间的关系。方法　选取2018年在新疆医科大学第二附属医院确诊为RSA的患者198例，收集患者的一般资料包括年龄、自然流产次数、流产孕周，并筛查患者的病因：染色体异常、生殖道解剖结构异常、内分泌系统异常、生殖道感染、自身免疫异常等，并对这些资料进行回顾性分析。根据患者的流产孕周，分为早期RSA组（<12周）（155例）和晚期RSA组（≥12周）（43例）；根据流产次数分为2次组（123例）和≥3次组（75例）。分析RSA患者各病因所占比例，以及RSA病因在不同流产孕周组和不同流产次数组间的差异。结果　198例RSA患者，染色体异常9例（4.55%），生殖道解剖结构异常11例（5.56%），内分泌系统异常36例（18.18%），生殖道感染14例（7.07%），自身免疫异常30例（15.15%），不明病因98例（49.49%）。晚期RSA组患者生殖道解剖结构异常发生率大于早期RSA组，不明病因发生率低于早期RSA组（P<0.05）；早期RSA组与晚期RSA组患者染色体异常、内分泌系统异常、生殖道感染、自身免疫异常发生率比较，差异均无统计学意义（P>0.05）。流产次数2次组和流产次数≥3次组患者染色体异常、生殖道解剖结构异常、内分泌系统异常、生殖道感染、自身免疫异常、不明病因发生率比较，差异均无统计学意义（P>0.05）。结论　导致RSA的病因有多种，包括染色体异常、生殖道解剖结构异常、内分泌系统异常、生殖道感染、自身免疫异常及不明病因等多种因素，其中不明病因的RSA占多数；生殖道解剖结构异常对妊娠晚期的影响大于妊娠早期。     

Complete form of pachydermoperiostosis

Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. Its pathogenesis is uncertain and the diagnosis is based on clinical and radiological data. A complete form of the syndrome is reported in a male patient with disease onset in adolescence, with compatible clinical and radiological findings, presenting the three cardinal findings as well as other associated manifestations, such as hyperhidrosis and acne.     

中国产8种甘草的理论分类及亲缘关系的理论判别

目的:根据广义生物遗传与变异信息理论方程推导的2个生物相似度常数P_(g1)=69%,P_(g2)=61%及生物亲缘关系判别函数P_g=1/lnN_d对中国产8种甘草进行理论分类及亲缘关系判别,并提出了生物的理论品种概念。方法:基于8种甘草所含有的59种代表性黄酮类化合物,计算各种甘草之间的共有成分率及变异成分率,采用2个常数及判别函数确定各自的特征序列,根据特征序列进行分类。结果:8种甘草可以分为3类,且8种甘草之间具有紧密的亲缘关系。根据59种特征黄酮类化学成分,可以给出比经典分类结果更精细确定的分类结果,可将严格的理论分类定义为理论品种。结论:广义生物遗传与变异信息理论方程结合植物的多种化学成分,可以对生物进行绝对的理论分类及亲缘关系判别,实现基于数理原理,而不是经验知识的准确科学生物分类,提出了判别生物亲缘关系的理论标准,为确定具有相似功效的中药材提供严谨的科学依据。     

胸主动脉夹层相关的危险因素认识现状

胸主动脉夹层是一种病情变化快的灾难性疾病,其特点是发病急、病情复杂、急诊诊断困难、进展迅速、误诊率高、病死率高、易引起医疗纠纷.即便如此,形成胸主动脉夹层详细的原因还不明确,许多危险因素与胸主动脉夹层的发生有关,包括高血压、性别(男性)、主动脉的正常老化、吸食毒品、动脉粥样硬化、遗传性疾病和炎性疾病等.     

Prevalence estimation and familial tendency of common forefoot deformities in Turkey: A survey of 2662 adults

Objective

This survey was designed to evaluate the prevalence estimations of HV, bunionette, hammertoe as well as their relations to shoe wearing and also familial tendency, in Turkey.

青少年特发性脊柱侧凸的遗传机制研究现状及基因关系图

作为青少年特发性脊柱侧凸(AIS)发病的研究热点,遗传机制探索经过候选基因及全基因组关联研究(GWAS)时代后,初步鉴定一些相关基因.综述AIS相关基因研究现状,并初步构建AIS基因关系网络图.在NCBI-Pubmed数据库和Web of Science中检索“adolescent idiopathic scoliosis”和“gene”,分类归纳基因.用String-db构建基因关系图.共识别35个AIS相关基因,将其按病因学假设可分为结缔组织、神经系统活性物质、褪黑素合成与代谢、青春期与生长及功能未知.大部分基因呈现网络关系,其中IL6、ESR1、ESR2、VDR、TGFB1、IGF1可能是AIS遗传机制的重要基因.3个GWAS位点有两个在网络之外,提示新通路.AIS易感基因研究尚初步,需要深入研究,解析机制,鉴定新网络.     

The Strength of a Loosely Defined Movement: Eugenics and Medicine in Imperial Russia

This essay examines the ‘infiltration’ of eugenics into Russian medical discourse during the formation of the eugenics movement in western Europe and North America in 1900–17. It describes the efforts of two Russian physicians, the bacteriologist and hygienist Nikolai Gamaleia (1859–1949) and the psychiatrist Tikhon Iudin (1879–1949), to introduce eugenics to the Russian medical community, analysing in detail what attracted these representatives of two different medical specialties to eugenic ideas, ideals, and policies advocated by their western colleagues. On the basis of a close examination of the similarities and differences in Gamaleia’s and Iudin’s attitudes to eugenics, the essay argues that lack of cohesiveness gave the early eugenics movement a unique strength. The loose mix of widely varying ideas, ideals, methods, policies, activities and proposals covered by the umbrella of eugenics offered to a variety of educated professionals in Russia and elsewhere the possibility of choosing, adopting and adapting particular elements to their own national, professional, institutional and disciplinary contexts, interests and agendas.     

Family history and its association to curve size and treatment in 1,463 patients with idiopathic scoliosis

Purpose

To study family history in relation to curve severity, gender, age at diagnosis and treatment in idiopathic scoliosis.

Methods

A self-assessment questionnaire on family history of scoliosis was administered to 1,463 untreated, brace or surgically treated idiopathic scoliosis patients.

Results

Out of the 1,463 patients, 51 % had one or more relatives with scoliosis. There was no significant difference between females and males, nor between juvenile and adolescent study participants in this respect (p = 0.939 and 0.110, respectively). There was a significant difference in maximum curve size between patients with one or more relatives with scoliosis (median 35°, interquartile range 25) and patients without any relative with scoliosis (median 32°, interquartile range 23) (p = 0.022). When stratifying patients according to treatment (observation, brace treatment or surgery), we found that it was more common to have a relative with scoliosis among the treated patients (p = 0.011). The OR for being treated was 1.32 (95 % CI 1.06–1.64) when the patient had a relative with scoliosis, compared to not having.

Conclusions

Larger curve sizes were found in patients with a family history of scoliosis than in the ones without. No relation between family history and gender or between family history and age at onset of idiopathic scoliosis was found. Although the presence of a family history of scoliosis may not be a strong prognostic risk factor, it indicates that these patients are at higher risk of developing a more severe curve.     

合并眼部病变的肥厚型心肌病

约60%的青少年和成人的肥厚型心肌病是心肌肌节蛋白基因突变导致的常染色体显性遗传病。而5%~10%的患者是由其他遗传性疾病包括代谢和神经肌肉疾病、染色体异常和遗传综合征等所致,且常合并心脏外表现,包括眼部病变。了解这些表现有助于对肥厚型心肌病的诊断。     

Some aspects of the genetics and etiology of spontaneous diabetes mellitus

Summary Human DM consists of a heterogeneous group of metabolic disorders which have as a common denominator diminished carbohydrate tolerance. Genetic factors are probably important in the etiology of almost all cases of DM, excluding perhaps only those produced by pancreatectomy. However, the precise mechanisms of expression of the genetic defects related to DM have been elucidated only in a few cases whereas the majority, especially those of MOD, should probably be considered multifactorial in origin (complex interplay between polygenic and environmental factors). Several less frequent forms of DM can be inherited in a typical Mendelian way, either alone (e.g. probably MODY) or associated with certain well defined genetic diseases (where carbohydrate intolerance is a frequent component of the clinical picture). JOD should most probably be attributed to the action of some as yet unidentified environmental factors, perhaps viruses, in subjects with a particular genetic predisposition. This predisposition seems to be closely associated with certain HLA antigens, particularly those of the D series. The mechanisms responsible for this association remain a matter of controversy. Autoimmune phenomena appear to be important in the pathogenesis of JOD. The ability of certain viruses to induce DM has been clearly demonstrated in a few experimental systems by infecting genetically susceptible animals. Under such conditions, DM is produced by a destruction of the pancreatic islets. On the other hand, there is as yet no conclusive evidence concerning the possibility that exogenous and/or endogenous viruses may play a role in the etiology of human DM. Patients with certain chromosome abnormalities are prone to develop DM. On the other hand, there are no available data concerning a possible effect of DM on the incidence of chromosome abnormalities in patients with the disease or in the embryos and fetuses of diabetic mothers. The possibility of congenital transmission of a predisposition to DM (which might possibly be inherited thereafter) through the action of some unknown epigenetic mechanisms has been suggested on the basis of limited clinical and experimental observations. However, further information is necessary in order to clarify the validity of such a curious possibility.