早产儿视网膜病变发病情况筛查分析

早产儿视网膜病变（retinopthy of premature，ROP）是一种未成熟或低出生体重婴儿的视网膜增殖性病变，主要是由于未成熟儿视网膜发育不完善，在多种因素的影响下，使视网膜缺血，造成新生儿血管形成，导致增殖性视网膜病变，牵引视网膜脱离，可并斜视、弱视、白内障、青光眼、视网膜变性甚至失明，是导致婴儿视力损伤和失明的主要原因，随着我国早产低出生体重儿治疗需求和生存率的不断提高，ROP的发生率及严重程度逐渐上升。约占儿童致盲原因的6％～18％。随着我国早产低出生体重儿治疗需求和生存率的不断提高，ROP的发生率及严重程度逐渐上升．预防和治疗ROP已成为提高早产低出生质量儿生活质量的重要问题。     

早产儿视网膜病发病情况及高危因素的探讨

目的 探讨早产儿视网病（retinopathy of prematurity，ROP）的发病率、高危因素及防治措施。方法对194例早产儿生后72h内及生后4w开始定期检查眼底，发现ROP者密切随访至生后1年。结果72h内早期眼底检查眼底异常包括视乳头水肿、视网膜水肿、视网膜血管改变及出血等。生4w后检出ROP患儿12例（6．2％），高危因素分别为低出生体重，小孕周、长期或高浓度吸氧。结论建议出生体重小于2000g和／或孕周小于35w的早产儿，在生后第3w或胎龄达34w时常规行首次眼底检查，以早期发现ROP并给予及时治疗。     

探讨影响早产胎膜早破母儿预后的危险因素

目的探讨胎膜早破对早产母儿的影响,以及影响早产儿预后的危险因素。方法对141例除外其它合并症、并发症的早产母儿临床资料进行回顾性分析(85例合并胎膜早破,56例无胎膜早破)。结果(1)78.82%早产胎膜早破发生在孕35w以后。(2)早产胎膜早破组与早产无胎膜早破组相比,母儿并发症无显著差异。(3)早产儿有并发症组、死亡组的新生儿窒息率均明显高于早产儿无并发症组及存活组,且新生儿出生体重、分娩孕周均明显降低。结论早产胎膜早破多发生在孕35w以后,对其进行合理治疗后胎膜早破并不是影响早产母儿预后的主要因素,早产儿并发症、死亡主要与新生儿窒息、出生体重、分娩孕周密切相关。     

胎龄及出生体重与视网膜病(ROP)发生的关系

目的通过对早产儿生后4周进行ROP筛查、诊断及随访,探讨胎铃、低体重对ROP发生的影响,对减少发生提高临床依据。方法对近2年入住我院NICU早产儿共732例进行ROP筛查,诊断后治疗及随访。结果出生体重越低、胎龄越小ROP的发生率越高,病变程度越重。结论低出生体重、低胎龄是ROP发生的高危因素,对不可避免的此高危新生儿要给予更好的治疗、监护,避免其他不利因素影响,及时筛查,及时治疗,注意减少发病率、降低疾病严重程度。     

自然早产与干预性早产临床对比分析

目的了解自然早产与干预性早产的病因及高危因素;探讨干预性早产的最佳分娩时机;对比不同分娩方式及不同孕周分娩对早产儿预后的影响。方法回顾性分析我院2008年1月至2008年12月收治的136例早产病例的临床资料,对相关资料进行统计描述及统计分析。结果本次调查早产病例136例,其中自然早产90例,干预性早产46例。①自然早产的主要病因顺位是胎膜早破、多胎、瘢痕子宫、羊水过少、臀位;干预性早产的主要病因顺位是妊娠期高血压疾病、前置胎盘、羊水过少、胎儿窘迫、瘢痕子宫。②不明原因的自然早产仍占较大比例(20%)。③既往流产史、早产史及孕期生殖道感染史等是自然早产的高危因素;辅助生殖技术引起的多胎可能成为自然早产新的高危因素;妊娠合并症及并发症是干预性早产的主要高危因素;④自然早产的分娩方式主要是阴道分娩(63.3%),干预性早产的主要分娩方式是剖宫产(95.7%);⑤不同分娩方式早产儿预后无显著差异,剖宫产并不能改善早产儿预后;不同孕周分娩的早产儿出生时情况及预后差异有显著性,分娩时间34周较34周预后好(P0.05)。结论及早发现并防治早产高危因素可减少早产的发生,尽可能将胎龄延长至妊娠34周及以后终止妊娠可有效改善早产儿预后。     

低体重儿277例眼底筛查结果分析

目的探讨早产儿视网膜病（ROP）及其他常见眼科疾病的发病情况。方法眼科医师使用间接眼底镜对出生体重小于2000g的277例低体重儿进行眼底筛查,并把277例低体重儿按体重分为两组（小于1500g体重组和1500-1999g体重组）,分析ROP、玻璃体混浊及视网膜出血的发病情况。结果277例小于2000g的低体重儿眼底筛查中,发现ROP19例（6.9%）,其中Ⅰ期8例,Ⅱ期7例,阈值病变4例;发现视网膜出血35例（12.6%）,其中3例周边视网膜出血随访证实为早产儿视网膜病变Ⅲ期;发现玻璃体混浊85例（30.7%）。体重〈1500g组发生ROP、玻璃体混浊的几率明显高于1500-1999g组。视网膜出血发生率在不同体重比较无显著性差异,窒息患儿视网膜出血发生率30.51%与无窒息患儿发生率7.80%比较有显著性差异。结论玻璃体混浊成为低体重儿眼底筛查中最常见的问题;体重对ROP、玻璃体混浊的发生有显著影响;窒息与视网膜出血的发生相关;在窒息和低体重儿中开展眼底筛查对提高视力水平极为重要。     

MTHFR(C677T)基因多态性对早产、死胎和低出生体重的影响

目的评估MTHFR基因多态性与早产、阴性妊娠结局和低出生体重的关系。方法随机选取200例早产儿(17例不足28w的极早早产儿、35例28w到不足32w的早期早产儿、148例32w到不足37w的轻型早产儿)和200例足月分娩儿参与研究。使用PCR-RFLP法检测早产和足月生产组MTHFR(C677T)基因多态性。结果 MTHFR基因多态性与早产、阴性妊娠结局(死胎)和低出生体重显著相关。MTHFR基因多态性显著增加了极早早产(P0.001,χ~2=11.23)、早期早产(P0.001,χ~2=11.93)和轻型早产(P0.001,χ~2=12.06)发生的风险。但MTHFR基因多态性只显著增加了极早早产儿死亡(P=0.002,χ~2=5.43)和低出生体重(P=0.009,χ~2=6.23)的风险,与早期早产儿和轻型早产儿的死亡和低出生体重无关。结论 MTHFR(C677T)基因多态性是早产、阴性妊娠结局(死胎)和低出生体重易感性的遗传危险因素。MTHFR(C677T)可以作为妊娠患者早产的预后指标,控制患早产的风险。     

早产儿黄疸与听力损伤关系的研究

目的探讨不同水平胆红素对不同胎龄、不同日龄及不同出生体重的早产儿听力损伤的影响,以及影响早产儿听力的其他高危因素。方法对227例早产儿住院期间胆红素水平、听力损伤情况及其他高危因素进行研究分析。结果227例早产儿中,根据不同胎龄、不同日龄、不同出生体重、不同胆红素水平进行分类,其中轻度黄疸73例,中度黄疸127例,重度黄疸27例,生后4-7d首次畸变产物耳声发射检查正常147例,异常80例,3月时复查脑干听觉诱发电位150例,结合随访结果诊断听力障碍10例。结论黄疸是导致早产儿听力损伤的主要原因之一,不同水平胆红素对不同胎龄、不同日龄、不同出生体重的早产儿听力损伤作用不同。同一胆红素水平对胎龄越小,日龄越小,出生体重越低的早产儿听力损伤越大。而胎龄、日龄、出生体重相同时,则胆红素水平与听力损伤呈正相关。早产儿听力损伤受多种因素的影响,常随早产儿其他神经系统的发育而逐渐恢复。     

早产儿颅内出血的高危因素分析

目的研究早产儿颅内出血的高危因素,探讨早产儿颅内出血的预防措施。方法选择湖南省儿童医院新生儿重症监护病房（NICU）2009年1月-2009年12月134例颅内出血早产儿作为研究组,同期130例无颅内出血的早产儿作为对照组,对23个临床因素进行单因素分析,筛选早产儿颅内出血的高危因素。结果单因素分析发现胎龄、出生体重、妊高征、前置胎盘、胎膜早破、产时窒息、脐带绕颈、宫内窘迫、呼吸暂停、代谢性酸中毒、低氧血症、高碳酸血症、机械通气、吸入高浓度氧等14项与早产儿颅内出血有关（P〈0.05）。再对这些相关因素进行Logistic回归分析确定胎龄、出生体重、产时窒息、宫内窘迫、代谢性酸中毒、低氧血症、高碳酸血症、机械通气、吸入高浓度氧等9项为早产儿颅内出血的高危因素（P〈0.05）。结论早产儿颅内出血的高危因素较多,在早产儿的诊治过程中应予足够重视,从而提高预见性并在早期采取相应干预措施。     

孕周、出生体重与早产儿转归的关系—274例早产儿分析

本文通过对274例早产儿的孕周、出生体重与其转归之间的关系进行分析，并经统计学方法处理有关数据，得出结论：孕周越小、出生体重越低，则早产几死亡率越高。其中尤以孕周对早产儿的转归更为重要。并就此提出降低早产儿发生率、发病率和死亡率的要点：做好孕期保健、适当用药以降低早产儿发生率，儿科医师进产房参与高危儿抢救，出生后进行严密监护，尤其是保暖和足够热量的供应以预防硬肿症、肺出血等，是降低早产儿发病率、死亡率的必要措施，应引起重视。     

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.     

The dominant diseases of modernized societies as omega-3 essential fatty acid deficiency syndrome: Substrate beriberi

About 1900, modern food selection and processing caused widespread $\text{epidemics}$ of the B vitamin deficiency diseases of beriberi and pellagra which, for genetic reasons, often expressed as different diseases ranging from bowel and heart disease to dermatoses and psychoses. But the B vitamins merely help convert essential fatty acids (EFA) into the prostaglandin (PG) tissue regulators and it now turns out that, through hydrogenation, milling and selection of w3-poor southern foods, we have also been systematically depleting, by as much as 90%, a newly discovered trace Nordic EFA (w3) of special importance to primates and sole precursor of the PG3(4) series, even as a concurrent fiber deficiency increases body demand for EFA. Since substrate EFA is processed by many B vitamin catalysts, an EFA deficiency will mimic a $\text{panh}$ypovitaminosis B, i.e., a mixture of $\text{substrate}$ beriberi and $\text{substrate}$ pellagra resembling vitamin beriberi and pellagra but exhibiting as even more diverse $\text{endemic}$ disease. This would consitute a second stage of the Modern Malnutrition and explain why some workers now hold the dominant diseases of modermized societies to be new, nutritionally based, pellagraform yet lipid-related and to range, once again, from heart disease to psychosis. It is an assumption that our dominant diseases are unrelated to each other or are merely revealed by our diagnostic acumen and therapeutic success; and that hydrogenating millions of tons of food oils annually, to destroy the rancidity producing w3-EFA, is safe for $\text{primates}$. Extensive beriberiform disease is reported here in 32 typical cases taken from medical practice which responds strikingly to linseed oil supplements (60% w3-EFA) in confirmation of identical results in Capuchins.     

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.