正常儿童口腔中白色念珠菌的分布及基因分组

目的 研究以白色念珠菌为代表的念珠菌，以及白色念珠菌基因分组在不同年龄段儿童口腔中的分布情况。方法 4组不同年龄儿童和1组成人作为研究对象，粘膜拭子法取样，CHROMagar Candida鉴定培养基分离鉴定，PCR方法一组引物确认白色念珠菌，一组引物基因分组。结果 不同年龄组儿童口腔中念珠菌的检出率有所不同，除健康青年外，白色念珠菌在检出的念珠菌中均占多数。白色念珠菌3种基因分组的分布也存在差异，以A组为主。结论 不同年龄阶段健康儿童口腔中，A组白色念珠菌组占主导地位。     

口腔感染白色念珠菌的基因分型及药敏分析

目的 研究口腔黏膜念珠菌病患者白色念珠菌的基因分型及药敏试验分析.方法 采用聚合酶链反应（PCR）对78株口腔白色念珠菌基因分型,用纸片扩散（K-B）法进行药敏试验,测定白色念珠菌不同基因型对两种临床常用抗真菌药物的敏感性,采用SPSS16.0软件包对数据进行统计分析.结果 口腔念珠菌病患者唾液中分离的白色念珠菌A型占57.7％,B型占26.9％,C型占15.4％.药敏试验结果为：78株白色念珠菌对氟康唑敏感的占89.7％,对伏立康唑敏感的占98.7％,对伏立康唑敏感率高于氟康唑（P＜0.05）.结论 引起口腔黏膜念珠菌病的白色念珠菌基因呈多态性,且不同基因型对抗真菌药物的敏感性存在较大差异,基因分型对口腔念珠菌病的诊断及合理用药有重要意义.     

中国北方汉族人细胞色素P450 1A1基因MspⅠ多态性与早发性帕金森病关系的研究

目的：探讨中国北方汉族人细胞色素P4501A1基因MspI多态性与早发性帕金森病的易感性的关系。方法：用聚合酶链反应－限制性片段长度多态性技术,分析了126例早发性帕金森病患者（发病年龄＜50岁）和172名正常健康成人CYP1A1基因3’端限制性内切酶MspI位点的3种基因型（A、B、C）的分布频率。结果：MspI基因型C在病例组和对照组中各占15．1％和13．4％,基因型A在两组中分别占41．3％和34．9％,基因型B在两组中分别占43．6％和51．7％,各基因型在两组中相比较,差异无显著性（P＞0．05）。C基因型在病例组和对照组分别占36．9％和39．2％,两者差异无显著性（P＞0．05）。结论：提示解毒酶CYP1A1基因MspI多态性的单独存在可能与早发性帕金森病的易患性无关。     

复方倍他米松联合半导体激光治疗对糜烂型口腔扁平苔藓疗效以及念珠菌感染的影响

目的探讨复方倍他米松联合半导体激光治疗糜烂型口腔扁平苔藓(EOLP)的临床疗效及对念珠菌(Candida)感染的影响。方法选取在青岛市市立医院口腔黏膜科就诊的具有糜烂病损且病理确诊为EOLP的病例90例,随机分为A、B、C 3组,每组30例。A组患者采用复方倍他米松局麻下封闭治疗(1次/2周);B组患者采用半导体激光局部照射治疗(3次/周);C组患者采用复方倍他米松联合半导体激光治疗,3组疗程均为4周。分别在第2、4周观察记录每组患者病损面积和症状体征;分别采集治疗前及治疗后的唾液检测IL-17、IL-38的水平及白色念珠菌(C.albicans)的检出率,并对数据进行统计分析。结果治疗后,C组病损面积均小于A组与B组(P0.05); C组疼痛程度评分均低于A组和B组(P0.05); C组症状体征评分均低于A组和B组(P0.05);治疗后,与A组相比B、C组患者白色念珠菌检出率下降(P0.05)。治疗后,与A、B组比较C组IL-17、IL-38有显著差异(P0.05)。结论复方倍他米松联合半导体激光治疗EOLP的总体效果优于单一方法治疗。     

148例新生儿眼结膜炎与产妇阴道病原感染相关性的分析

目的了解自然分娩产妇产道细菌性感染（不包括衣原体）对于新生儿眼结膜炎的发病影响，加强围产期保健，防止婴幼儿视力损害。方法对148例新生儿眼结膜炎患者作结膜囊渗出物细菌培养和药敏试验，根据培养结果将患儿分为A组：培养阴性（无菌生长）组，B组：培养阳性组（有菌生长），同时相应将A组、B组患儿母亲分为产妇A组和产妇B组，作阴道分泌物涂片革兰染色检查相对照。结果产妇A组检出病原菌者5例（17．2％），清洁度正常，未检出病原菌及滴虫者24例（82．8％）。患儿B组检出淋病奈瑟氏菌13株（10．9％），其它各属菌株106株（89．1％）。产妇B组涂片见有白细胞内外革兰阴性双球菌者11例（9．2％）；其它病原菌及念珠菌、滴虫感染者76例（63．9％），清洁度正常，未检出病原菌及滴虫者32例（26．9％）。产妇A组产道感染阳性率17．2％，B组阳性率73．1％，两者比较差异有极显著性（P〈0.001）。结论新生儿眼结膜炎与产妇产道感染有密切相关性，应加强对妊娠中晚期孕妇的生殖道感染防治，减少新生儿经产道感染的几率。     

HIF1A基因两个位点多态性与夏尔巴人群高原低氧适应关系的研究

目的研究西藏高原夏尔巴人群缺氧诱导因子1α（hypoxia-inducible factor 1，alpha subunit；HIF1A）基因（HIF1A）第12外显子1772（C→T）、1790（G→A）多态性与高原低氧适应相关性。方法选取世居西藏高原夏尔巴族148人及广东汉族健康个体90人的血样，提取白细胞基因组DNA，聚合酶链反应-限制性片段长度多态性（polymerase chain reaction-restriction fragment length polymorphism，PCR-RFLP）检测HIF1A基因第12外显子1772（C→T）、1790（G→A）的单核苷酸多态性，分析其基因多态性特征。结果1772（C→T）CC、CT和TT基因型频率在夏尔巴人组与汉族对照组分别为14．19％和16．67％、39．19％和41．11％、46．62％和42．22％，两组间比较差异无统计学意义；1790（G→A）GG、GA和AA基因型频率在夏尔巴人组与汉族对照组分别为57．43％和75．56％、37．84％和21．11％、4．73％和3．33％，夏尔巴人组的GG基因型频率较汉族对照组的低（P〈0．01），而GA基因型频率高于汉族对照组（P〈0．01）。组合基因型分布，夏尔巴人CC＋GA、CT＋AA、TT＋GA和TT＋AA的组合基因型频率高于汉族组。结论HIFIA基因1790（G—A）多态性与夏尔巴人群高原低氧适应存在相关性，GA、AA基因型可能对低氧适应有利，值得进一步深入探讨。     

氟康唑序贯疗法治疗老年人肺部白色念珠菌感染的临床评价

目的评价氟康唑静脉滴注后改口服的序贯疗法治疗老年人肺部白色念珠菌感染的疗效及不良反应。方法用氟康唑序贯疗法治疗老年人肺部白色念珠菌感染60例，第1d 400mg静脉滴注，第2d改为200mg静脉滴注，每日1次，连续用7～10d后改口服，200mg／d，每天1次。疗程3～4周。结果总有效率为90．0％，白色念珠菌清除率为850％，不良反应发生率为8．3％。结论氟康唑序贯疗法疗效高，不良反应少，用药方便，尤适用于老年人。     

重型肝炎时乙型肝炎病毒基因型与基本核心启动子及前C区突变关系的研究

目的探讨重型肝炎（重肝）乙型肝炎病毒（HBV）基因型与基本核心启动子（BCP）及前C区突变的关系。方法采用聚合酶链反应（PCR）-限制性片段长度多态性分析技术（PCR-RFLP）对52例重肝和52例慢性乙肝（CHB）进行HBV基因分型。采用PCR产物直接测序技术，随机对15例B型和15例C型重肝患者的BCP区和前C区进行序列测定，分析HBV基因型与BCPT1762／A1764及前C区A1896突变的关系。结果泉州地区重肝的基因型以B型为主（48．08％），其次为C型（30．77％）和B／C混合型（17．31％），无A、E、F型存在。与CHB组比较，重肝组B型检出率明显降低，而C型和BIC混合型检出率明显升高。C型重肝患者BCPT1762／A1764双突变率显著高于B型（P〈0．05），而前C区A1896突变率在B、C型感染者中差异无统计学意义（P〉0．05）。结论C型感染易引起较重肝损伤，而B／C型混合感染可能是导致重肝发生的重要原因之一。C型重肝患者BCP T1762／A1764双突变率显著高于B型。     

-80℃冻干猪二道皮用于Ⅱ度烧伤创面换药方法的改进

目的应用自制-80％冻干猪二道皮（类似仿猪真皮）覆盖Ⅱ度烧伤创面，改进传统的换药方法并评价其效果。方法取小型健康白色家猪的新鲜皮，经常规清洁剃毛，以电动取皮机去脂，制成去表皮刃厚猪二道皮，经处理后放入-80％冰箱冻存备用。临床分为两组：A组为观察组共42例，以猪二道皮覆盖创面，B组为对照组共76例，以10％磺胺嘧啶银霜油纱布传统方法交敷创面。结果浅Ⅱ度创面愈合时间，A组平均（10．67±2．08）天，B组（13．1±1．73）天（P〈0．01）；深Ⅱ度创面愈合时间，A组平均（20．8±2．03）天，B组（23．20±2．60）天（P〈0．01）。结论与传统的换药方法相比，以猪二道皮覆盖烧伤创面，能促进上皮细胞生长，减轻疼痛，缩短愈合时间，减少疤痕和畸形的产生。     

816株真菌感染分布及药敏分析

目的了解本院医院感染真菌分布的特点及对常用抗真菌药物的耐药情况。方法CHROMagar显色培养基及ATB真菌试剂盒进行鉴定;药敏试验采用纸片扩散K—B法。结果2008年1月至2009年6月我院临床共分离真菌816株,其中白色念珠菌（占53．2％）是引起真菌感染的最常见菌种,其次是热带念珠菌（21．6％）、光滑念珠菌（15．6％）、近平滑念珠菌（5．0％）和克柔念珠菌（2．3％）。药敏试验结果显示各种真菌对两性霉素B、制霉菌素的敏感性最高,分别达98％和99％,其次是氟康唑、伊曲康唑。结论真菌感染率呈逐年上升趋势,耐药率也逐渐增高。因此应及时对送检标本进行真菌培养和药敏试验,合理使用抗真菌药物,减少医院感染多重耐药和深部真菌感染的发生。     

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.