孕早期心理健康状况与先天性心脏病的关系

先天性心脏病(congenital heart disease,CHD)是人类最常见的先天畸形,已有研究表明孕早期心理应激与子代CHD发生有关[1].本文探讨孕早期心理状况与胎儿CHD的关系,为预防CHD提供依据.     

妊娠期胎儿先天畸形的危险因素及临床干预策略

目的探究妊娠期胎儿先天畸形的危险因素及其临床干预策略。方法分析2018年1月～2019年12月期间收入胎儿先天畸形产妇总计90例,另选取同期收入90例正常孕产妇作为对照,分析胎儿先天畸形危险因素,并制定合理干预策略。结果 90例胎儿畸形分布情况中,除其他畸形外,包括神经系统畸形、颜面部畸形及心脏畸形、泌尿生殖系统畸形,分别为25.56%、18.88%、15.56%、15.56%;对比两组孕妇一般资料发现,两组在年龄、孕期合并症、是否有畸形怀孕史、家族史、孕期从事高危工作、孕期感染、发热、孕期用药存在较大差异性,差异显著(P0.05);将上述有差异项目带入Logistic回归方程计算,发现年龄、孕期合并症、是否有畸形怀孕史、家族史、孕期从事高危工作、孕期感染、发热、孕期用药为引起胎儿畸形相关危险因素。结论胎儿先天畸形诱发因素较多,临床需加强产前筛查并按时进行产前检查,做好产前宣教并杜绝一切有可能诱发胎儿先天畸形危险因素,降低胎儿畸形发生率。     

新乡地区10 506例围产儿中先天畸形及有关致畸因素的分析

目的探讨围产儿先天畸形的致畸因素,为该病的防治提供依据.方法对1992年10月至2002年10月在我院妇产科分娩的围产儿进行回顾性统计分析,同时,进一步调查先天畸形患儿的产母.结果通过对10506例围产儿中133例先天畸形的回顾性统计表明:围产儿先天畸形占同期出生新生儿的12.66‰.多基因遗传病中的先天畸形占首位(构成比为65.41%,发生率为94.6‰).先天畸形与孕妇在前三月感染、精神创伤、服药、接触致畸物质有明显关系;同时还发现先天畸形与季节、产妇年龄、胎次、居住地等因素有关.结论先天畸形与遗传因素和孕早期的环境因素有直接关系.     

介休地区先天性心脏病与其他畸形的调查报告

对汾西矿务局介休地区2567例0－14周岁儿童进行先天性心脏病及其它畸形普查．发现先天畸形77．13‰．呈较高发病。先天性心脏病3．12‰，多数有家族遗传史．1／3联合其他畸形。因此，预防先天畸形，应重视婚姻咨询．注意环境与遗传等各种有关因素、应重视矿区环境保护．减少畸形出现率。提高人口素质。     

胎儿先天畸形的发生及其危险因素研究

目的探讨胎儿先天畸形的发生现状及其危险因素。方法选取2015年9月至2018年9月间年在我院产科建卡就诊且发现胎儿先天畸形的120例孕产妇临床资料作为观察组,另选取同期120例正常孕妇作为对照组,采用Logistic回归方程进行计算,分析胎儿先天畸形的发生现状及其危险因素。结果在120例胎儿CM中,单系统畸形发生率明显高于多系统畸形,各系统分布比例占比前三分别为中枢神经系统(40%)、头面部(20%)与心血管系统(15%)。对比有无胎儿CM孕产妇的一般资料,发现两组在年龄、孕期合并症、产次、孕期感染、发热、用药、从事高危工作(接触化学毒物的行业)、半年内新装修房子或经常驾驶新车、异常生育史、吸烟、酗酒、前期有畸形怀孕史或家族史等一般资料上出现较大差异,数据对比具有统计学意义(P0.05),将上述有差异资料带入Logistic回归方程计算,证实其均是导致胎儿CM的相关危险因素。结论导致胎儿先天畸形的诱发因素很多,建议临床应加强产前筛查,强调按时产检的重要性,做好产前宣教,杜绝一切有可能诱发胎儿先天畸形的危险因素。     

167例胎儿先天畸形与染色体异常的相关性研究

目的 探讨胎儿先天畸形与染色体异常的关系,明确羊水细胞核型分析的意义,加强产前诊断工作.方法 选取2003年4月至2010年8月间,在深圳市妇幼保健院产前诊断中心B超筛查为先天畸形的胎儿167例,进行羊水细胞核型分析,畸形分为单发(79例)和多发(88例)两组,按畸形出现的解剖系统分为8类,评估各类畸形与染色体异常之间的关系.结果 167例先天畸形胎儿共检出染色体异常60例(35.93％),其中数目异常49例.统计学分析显示:多发畸形染色体异常率高于单发畸形;单发畸形中,胎儿水肿或水囊瘤的染色体异常率高于颅脑、面颈部、骨骼四肢和心血管系统畸形.唇腭裂和多囊肾两种畸形未检出染色体异常.结论 染色体异常是导致先天畸形的一个主要因素,染色体数目异常是染色体病导致先天畸形的最常见类型,多发畸形胎儿染色体病的风险高于单发畸形胎儿,不同种类的单发畸形,染色体异常检出率存在统计学差异.     

叶酸代谢障碍与出生缺陷的关系探讨

目的通过对孕前及孕早期女性进行叶酸代谢障碍检测评估,探讨叶酸代谢障碍与出生缺陷的关系。方法以珠海市妇幼保健院2015年1月至2016年11月因各种畸形终止妊娠305例作为观察组,抽取同期孕前及孕早期妇女300例作为对照组,采用Taqman-MGB技术检测MTHFR C677T、A1298C及MTRRA66G基因多态性来评估叶酸代谢障碍程度,跟踪收集观察对象住院分娩记录及新生儿的相关信息,并对不良妊娠结局病例进行统计分析。结果 (1)两组在染色体异常(χ~2=80.042,P=0.000)、地贫(χ~2=52.444,P=0.000)、唇腭裂(χ~2=18.528,P=0.000)、先天愚型(χ~2=8.087,P=0.004)、心脏畸形(χ~2=17.486,P=0.000)、多发畸形(χ~2=6.966,P=0.008)、泌尿系统畸形(χ~2=7.947,P=0.005)、肢体畸形(χ~2=4.959,P=0.000)、其他畸形(χ~2=72.729,P=0.000)比较差异具有统计学意义(P均0.05);(2)两组妊娠期贫血发生率比较(χ~2=62.675,P=0.000)、妊娠期高血压发生率比较(χ~2=33.620,P=0.000)差异具有统计学意义(P均0.05),妊娠期糖尿病发生率比较(χ~2=1.198,P=0.274)差异无统计学意义(P0.05)。结论 (1)叶酸代谢障碍与染色体异常、地贫、唇腭裂、先天愚型、心脏畸形、多发畸形、泌尿系统畸形、肢体畸形具有相关性;(2)叶酸代谢障碍与妊娠期贫血、妊娠期高血压的发生具有相关性。     

不同孕周先天畸形患儿游离DNA的含量变化规律及相关影响因素分析

目的探究不同孕周先天畸形胎儿游离DNA含量变化及相关因素分析。方法便利抽样法选取2015年7月至2018年7月在本院接受产前检查孕妇471例(18≤孕周30w),其中随访证实正常男胎者443例作为正常组;经无创DNA筛查及羊水培养核型证实先天畸形胎儿28例(18-三体综合征7例,唐氏综合征21例)作为畸形组。采用高通量测序检测两组胎儿游离DNA序列,估算其含量。分析两组不同孕周胎儿游离DNA含量,畸形组胎儿游离DNA含量与孕妇年龄、体重的关系。结果畸形组胎儿游离DNA含量[(17.51±4.53)%]显著高于正常组[(13.46±3.62)%],差异有统计学意义(P0.01)。两组胎儿游离DNA含量随孕周增加而增大,≥2728w畸形组高于正常组(P0.05),其他孕周亦高于正常组,但差异无统计学意义(P0.05)。畸形组随孕妇年龄增大,胎儿游离DNA含量增加;随孕妇体重增大,胎儿游离DNA含量减少。相关性分析显示,胎儿游离DNA含量与孕妇年龄呈正相关(P0.05),与孕妇体重呈负相关(P0.05)。结论相比正常胎儿,先天畸形胎儿游离DNA含量在18≤孕周30周呈相对高表达,孕妇年龄、体重是相关重要因素,临床应引起重视。     

先天畸形影响因素的流行病学研究进展

先天畸形 (congenitalmalformation)是出生缺陷的主要表现形式 ,指人类出生时存在的解剖结构方面的异常。先天畸形的表现种类繁多 ,危害严重 ,影响整个人口素质。先天畸形的发生是遗传因素和环境因素两者作用的结果 ,据估计 ,在人类的各种先天畸形中大约有 10 %是由环境因素所引起 ;另有 2 0 %主要因遗传因素所致 ;其余大约 70 %病因未明 ,推测可能是环境与遗传因素相互作用的结果 ,因此 ,对先天畸形的病因研究应作为防致畸形发生、提高人口素质的重要内容。本文着重综述近几年有关先天畸形影响因素流行病学方面的研究成果。1 遗传因素在多…     

杭州地区39例消化道先天畸形儿危险因素分析

本文对39例消化道畸形儿采用11配比作致畸危险因素分析.结果表明39例消化道畸形儿围产风险是早产、低体重,消化道畸形与畸形家族史有关,与母孕产失败史有关,与孕期父嗜烟、酒,母被动吸烟有关,与母孕期病毒感染、用药及接触有害理化物质有关.(P＜0.01,＜0.05)提示应引起重视并加以干预.     

Renal dysplasia and asplenia in two sibs

A family is reported in which two sibs, one male and the other female, both died within 24 hours of birth with enlarged polycystic kidneys. Postmortem histology in the second child showed gross renal dysplasia. In both children the pancreas was enlarged, nodular and cystic but the liver appeared macroscopically normal. In the second child, histological examination confirmed pancreatic fibrosis with cystic dilation of ducts, but showed portal fibrosis with bile duct proliferation in the liver.
This combination of findings is very reminiscent of those in a girl and her brother reported by Ivemark et al. (1959). The children reported here also showed absence or hypoplasia of the spleen, cardiac anomalies and other features of the Ivemark syndrome (Ivemark 1955), a quite different, usually sporadic, congenital disorder. It is suggested that the children described here have a distinct lethal congenital disorder, probably inherited in an autosomal recessive manner.     

Schizophrenia in a North Swedish geographical isolate, 1900–1977. Epidemiology, genetics and biochemistry

Over 200 schizophrenic patients belonging to three major and interrelated pedigree complexes have been investigated over the past 30 years in a North Swedish geographically isolated population, presently numbering about 6,000. An intensive investigation of a number of biochemical correlates and genetic markers in a few selected families belonging to one of the major pedigrees has indicated new strategies for the current research program.
Schizophrenia, as defined operationally, is significantly associated with decreased activities of two enzymes (1) blood platelet monoamine oxidase, (2) plasma dopamine-β-hydroxylase, and (3) with the genetic marker Gc² (group specific antigen). Both enzymes are subject to genetic variation. A positive score for linkage between schizophrenia and low plasma DBH activity has been calculated, but, so far, available data are insufficient for discrimination between linkage and partial contribution of genetically controlled low plasma DBH to the pathogenesis of the disease. Alternatively, both mechanisms could be involved.
As a model for continued research, schizophrenia is explained as based on a double dominant-recessive genotype (Aabb), representing a vulnerability which in about 50 % of cases develops into clinical schizophrenia. It is suggested that the dominant mutation (A) operates on or affects MAO activity, and that the recessive genotype (bb) is instrumental in low variates of DBH activity and very likely such variates within the normal range of physiological variation. Moreover, it is suggested that the combined effects of MAO- and DBH-reduced efficiency on the metabolism of e.g. dopamine could be an essential pathogenic mechanism for the schizophrenic illness which is segregating in this population.     

What will studies of Fulani individuals naturally exposed to malaria teach us about protective immunity to malaria?

There are an estimated over 200 million yearly cases of malaria worldwide. Despite concerted international effort to combat the disease, it still causes approximately half a million deaths every year, the majority of which are young children with Plasmodium falciparum infection in sub-Saharan Africa. Successes are largely attributed to malaria prevention strategies, such as insecticide-treated mosquito nets and indoor spraying, as well as improved access to existing treatments. One important hurdle to new approaches for the treatment and prevention of malaria is our limited understanding of the biology of Plasmodium infection and its complex interaction with the immune system of its human host. Therefore, the elimination of malaria in Africa not only relies on existing tools to reduce malaria burden, but also requires fundamental research to develop innovative approaches. Here, we summarize our discoveries from investigations of ethnic groups of West Africa who have different susceptibility to malaria.     

The universal muscular chain reaction,muscle spasm,Torsions, ruptures and extravasations. Chameleons of pathology and some manifestations of simple muscular disorders

Most bodily functions require the coordinated actions of complementary and supplementary paired muscle groups. Where this essential muscular cooperation is lacking, hollow organs may burst and others become literally screwed up, giving rise to many similar spastic diseases such as Torticollis, Twisted ovarian cyst, Torsion of the Testis, Volvulus of the intestines, Varicose Veins, Megacolon, Aortamegaly, Scoliosis, Erb's Palsy, Peyronie's Disease, Main-en-Griffe, Undescended Foot (Pes Cavus), Talipes, Strabismus. Spasm is “panenepidemic” and unclassified examples of Torsion Dystonia and Dyskinesia really are as common as debt and taxes.     

Hypo- und Hypermagnesämie aus kardiologischer Sicht

Zusammenfassung Eine Reihe pathologischer Zustände bedingen Magnesiummangel. Zustände mit Hypermagnesämie sind ebenfalls bekannt, doch wesentlich seltener. Für den Kardiologen beachtenswert ist, daß unter Therapie mit bestimmten Diuretica bei Herzinsuffizienz, bei Herzinfarkt, Kardiomyopathie, Digitalisintoxikation und bestimmten Herzrhythmusstörungen Hypomagnesämie beobachtet wurde. Leider kann in der klinischen Routine nur ein extracelluläres Magnesiumdefizit durch Serumbestimmungen gemessen werden; über Magnesiummangel einzelner Organe kann nichts ausgesagt werden. Hinweise für Magnesiummangel geben aber neben der Messung des Serumspiegels Anamnese, klinischer Befund, bestimmte EKG-Veränderungen wie auch evtl. Hypokalämie, ein Zustand, bei dem sich oft — besonders bei Aldosteronismus — parallele Veränderungen zeigten.Tierexperimente deuten darauf hin, daß infarktähnliche Läsionen unter Magnesiummangel entstehen, doch ob Herzinfarkt beim Menschen durch Magnesiummangel ausgelöst werden kann, ist noch ungeklärt. In Leichenherzen zeigte sich im Infarktgebiet neben Calciumakkumulation signifikanter Magnesiumverlust, wobei unklar blieb, ob sich Ursache oder Folge des Infarktes widerspiegelten. Falls ein ursächlicher Zusammenhang besteht, ist er im Myokardstoffwechsel selbst zu suchen, wie bei der Alkoholkardiomyopathie, wo myokardialer Magnesiummangel zumindest als pathogenetischer Teilfaktor anerkannt wird. Andererseits versucht man aber auch Beziehungen zwischen Atherosklerose, Blutgerinnung und Hypomagnesämie herzustellen, in der Meinung, daß Magnesiummangel auch über den coronaren Pathomechanismus des Herzinfarktes wirken könnte. Sicher scheint, daß gewisse EKG-Veränderungen und Herzrhythmusstörungen durch einen irritierten Magnesiumhaushalt bedingt sein können, da sie bei Gabe bzw. Entzug von Magnesium verschwinden. Daß Magnesiummangel die Glykosidtoleranz verringert, wird tierexperimentell bestätigt. Unter Hypomagnesämie bewirkt Acetylstrophanthidin eher und länger Rhythmusstörungen als ohne, außerdem lassen diese sich durch Magnesiumgaben eliminieren. Da in gewissen Fällen spontane und digitalisinduzierte Herzrythmusstörungen durch Magnesiuminjektionen beseitigt wurden, scheint Magnesium als Therapeuticum angebracht. Einsatz verschiedener Magnesiumsalze bei Angina pectoris, degenerativen Herzerkrankungen und Herzinsuffizienz ohne geprüften und offensichtlich gestörten Magnesiumhaushalt ist fragwürdig, weil keine eindeutigen klinischen Erfolgsbeweise vorliegen. Immerhin mag es aber larvierte, durch Serumbestimmungen nicht erfaßbare Mangelzustände geben. Allgemein erscheint es aus kardiologischer Sicht ratsam, den Magnesiumhaushalt zu überwachen und in entsprechenden Fällen auszugleichen, um möglichen Myokardläsionen oder fatalen Herzrhythmusstörungen entgegenzuwirken.     

Environmental risk factors and their role in the management of atopic dermatitis

Introduction: The etiology of atopic dermatitis (AD) is multifactorial with interaction between genetics, immune and environmental factors.

Areas covered: We review the role of prenatal exposures, irritants and pruritogens, pathogens, climate factors, including temperature, humidity, ultraviolet radiation, outdoor and indoor air pollutants, tobacco smoke exposure, water hardness, urban vs. rural living, diet, breastfeeding, probiotics and prebiotics on AD.

Expert commentary: The increased global prevalence of AD cannot be attributed to genetics alone, suggesting that evolving environmental exposures may trigger and/or flare disease in predisposed individuals. There is a complex interplay between different environmental factors, including individual use of personal care products and exposure to climate, pollution, food and other exogenous factors. Understanding these complex risk factors is crucial to developing targeted interventions to prevent the disease in millions. Moreover, patients require counseling on optimal regimens for minimization of exposure to irritants and pruritogens and other harmful exposures.     

Class II HLA in Georgia Caucasus Tbilisi Georgians and their Mediterranean ancestry: The Usko Mediterranean languages

Georgia (or Sakartvelo in its own language) is a South Caucasus Mts. country with its easternmost part is enigmatically named Iberia, like the Iberian Peninsula, which may refer to rivers “Kura” and “Ebro” or their valleys respectively. Most of their inhabitants speak Georgian which is included within Dene-Caucasian group and Usko-Mediterranean subgroup of languages. The latter includes Basque, Berber, ancient Iberian-Tartessian, Etruscan, Hittite, Minoan Lineal A and others. In the present paper, HLA class II -DRB1 and -DQB1 alleles has been studied and extended haplotypes calculated. Most frequent haplotypes are also of Mediterranean origin (i. e.: (A*02-B*51)-DRB1*11:01-DQB1*03:01, (A*02-B*51)-DRB1*13:01-DQB1*06:03, or (A*24-B*35)-DRB1*01:01-DQB1*05:01) and DA genetic distances show that closest world populations to Georgians are Mediterraneans. Georgians also show common extended haplotypes ((A*02-B*51)-DRB1*11:01-DQB1*03:01, (A*02-B*13)-DRB1*07:01-DQB1*02:01 and (A*03-B*35)-DRB1*11:01-DQB1*03:01) with Svan people, a secluded population in North Georgia mountains. We can conclude that Georgians belong to a very old Mediterranean substratum according to both linguistics (Usko Mediterranean languages) and HLA genetics.     

HLA genes in Amerindians from Mexico San Vicente Tancuayalab Teenek/Huastecos

Huastecos or Teenek Amerindians are presently living at North East Mexico (San Luis Potosi State). They have probably one of the most ancient culture of Mexico and Central America together with Mayas and Olmec groups with which also show close relationships. Proximity to Atlantic Ocean/Mexican Gulf originated that Spaniards had very early contact with them at about 1519 CE or before. In the present paper we have aimed to study HLA gene profile which may be useful for HLA and disease epidemiology and transplant programs in Teeneks. HLA-DRB1*04:07, -DRB1*14:06 and -DRB1*04:11 have been found in high frequency like in other Amerindian groups. High frequency typical Amerindians HLA extended haplotypes have been found, such as A*02-B*35-DRB1*04:07-DQB1*03:02; A*68-B*39-DRB1*04:07-DQB1*03:02 and A*02-B*39-DRB1*04:07-DQB1*03:02; also new haplotypes have been described, like A*02-B*52-DRB1*04:11-DQB1*03:02, A*68-B*35-DRB1*14:02-DQB1*03:01 and A*68-B*40-DRB1*16:02-DQB1*03:01. Genetic proximity is observed not only to linguistically close Mayans, but also to Mazatecans, Mixtecans and Zapotecans, who speak an altogether different languages; it shows once more that genes and languages do not correlate. This population was greatly diminished after European contact between 1500 and 1600 years CE; in fact, North and South America First Inhabitants population was brought from 80 down to 8 million people because of diseases (i.e.: measles, smallpox or influenza), slavery and war.     

État de l’art : nouveaux anticoagulants et transfusion

Direct oral anticoagulants (DOAC) are indicated for stroke prevention in atrial fibrillation and for the prevention and treatment of venous thromboembolism. As any anticoagulant, they are associated with a bleeding risk. Management of DOAC-induced bleeding is challenging. Idarucizumab, antidote for dabigatran, is currently available and is part of the therapeutic strategy, whereas antidotes for anti-Xa agents are under development. Activated or non-activated prothrombin concentrates are proposed, although their efficacy to reverse DOAC is uncertain. We propose an update on DOAC-associated bleeding management, integrating the availability of idarucizumab and the critical place of DOAC concentration measurements.     

HLA in North Colombia Chimila Amerindians

HLA-A,-B,-C,-DRB1 and -DQB1 alleles have been studied in Chimila Amerindians from Sabana de San Angel (North Colombian Coast) by using high resolution molecular typing. A frequent extended haplotype was found:HLA-A*24:02-B*51:10-C*15:02-BRB1*04:07-DQB1*03:02 (28.7%) which has also been described in Amerinndian Mayos Mexican population (Mexico, California Gulf, Pacific Ocean). Other haplotypes had already been found in Amerindians from Mexico (Pacific and Atlantic Coast), Peru (highlands and Amazon Basin), Bolivia and North USA. A geographic pattern according to HLA allele or haplotype frequencies is lacking in Amerindians, as already known. Also, five new extended haplotypes were found in Chimila Amerindians. Their HLA-A*24:02 high frequencies characteristic is shared with aboriginal populations of Taiwan; also, HLA-C*01:02 high frequencies are found in New Zealand Maoris, New Caledonians and Kimberly Aborigines from Australia. Finally, this study may show a model of evolutionary factors acting and rising one HLA allele frequency (-A*24:02), but not in others that belong to the same or different HLA loci.