维生素D在孤独症谱系障碍中的作用研究进展

孤独症谱系障碍(ASD)目前病因和发病机制尚不清楚。近年来的研究发现ASD患儿普遍存在维生素D的缺乏,维生素D与ASD的关系逐渐引起人们的关注。该文对ASD患儿外周血维生素D水平的检测结果、维生素D水平低下的可能原因及其与ASD病因的可能关系、补充维生素D对ASD的疗效等研究进展作一综述。     

维生素D与孤独症谱系障碍的关系

孤独症谱系障碍（ASD）是一种复杂的与多个遗传和环境危险因素有关的神经发育障碍。过去几年遗传和环境因素间相互作用已成为研究的热点。最近提出了维生素D缺乏可能是ASD的一个环境危险因素。维生素D在维持大脑内稳态、促进胚胎和神经发育、免疫调节（包括大脑自身的免疫系统）、抗氧化、抗凋亡、影响神经分化及基因调控方面都有独特的作用。多项研究表明ASD患儿血清中维生素D浓度相比健康儿童存在显著降低。因此,母孕期和儿童早期缺乏维生素D可能是引起ASD的环境危险因素之一。     

孤独症谱系障碍患儿血清25(OH)D水平的检测

目的了解孤独症谱系障碍(ASD)患儿维生素D营养状况,探讨维生素D水平与ASD的关系。方法采用高效液相色谱-串联质谱法对117例新诊断的ASD患儿和109例健康对照儿童进行血清25(OH)D检测,并根据血清25(OH)D水平,将维生素D状况分为正常(30 ng/m L)、不足(10~30 ng/m L)和缺乏(10 ng/m L),比较两组儿童维生素D营养状况。结果 ASD患儿25(OH)D水平(19±9 ng/m L)明显低于对照组(36±13 ng/m L),差异有统计学意义(P0.01)。ASD患儿中维生素D缺乏和不足率为89.7%,明显高于对照组(52.3%),差异有统计学意义(P0.01)。结论 ASD患儿存在维生素D缺乏或不足,维生素D缺乏和不足有可能是ASD发病的环境/遗传因素。     

维生素D及其临床研究的进展

自从有人从鳘肝油中分离出抗佝偻病的因素以来,人们对维生素D(Vit D)的认识不断增加,有关这方面的报道也日渐增多,本文将就国外有关的近期资料对Vit D及其临床研究的进展进行综述,以供临床参考。Vit D的代谢、作用及调节一、Vit D的代谢内源性Vit D在皮肤通过紫外线的作用(其波长为296～310um)由7-脱氢胆固醇转变成Vit D的前体,后者通过D-结合蛋白(DBP)运送至肝脏,经肝微粒体作用,由25羟化系统羟化成25-OHD_3。     

孤独症谱系障碍的免疫功能紊乱研究进展

孤独症谱系障碍(autism spectrum disorder,ASD)是一种严重的神经发育障碍性疾病, 临床以社会交往及语言交流缺陷、刻板行为及兴趣、活动狭窄为主要表现。目前国内外关于ASD发病机制涉及免疫方面的研究不断取得进展。关于细胞因子(如IL-1β、IL-8、IL-17等)及对ASD动物模型的脑组织研究发现, ASD发病与神经系统免疫功能紊乱存在关联, 可能继发突触功能损害。该文综述国内外ASD与免疫系统紊乱相关的研究, 为探究ASD病因、发病机制及潜在的治疗措施提供思路。     

兰州地区住院婴幼儿维生素D营养状况及影响因素

目的 评价兰州地区婴幼儿维生素D（Vit D）营养状况,为合理补充Vit D提供依据。方法 以兰州地区住院婴幼儿为研究对象,液相色谱串联质谱法检测血清25-羟维生素D［25-(OH)D］水平。问卷调查Vit D缺乏的相关因素,并行Logistic回归分析Vit D缺乏的危险因素。结果 374名住院婴幼儿进入分析,其中男227名,女147名。①平均25-(OH)D水平为（30.40±14.88）ng·mL-1,73名（19.5％）25-(OH)D水平<20 ng·mL-1（Vit D缺乏）,即使近3个月补充过Vit D,仍有13名（10.2％）Vit D缺乏。②Vit D缺乏有明显季节差异（P=0.04）,春季最高（29.2％,21/72名）,秋季最低（13.1％,16/122名）。③Logistic回归分析显示,≤6月龄（OR＝3.67,95％CI：1.25～10.76）、6月龄内纯母乳喂养儿（OR＝40.94,95％CI：5.07～330.36）、部分母乳喂养儿（OR＝12.21,95％CI：1.41～105.65）、未补充Vit D（OR＝5.21,95％CI：2.48～10.97）易出现Vit D缺乏。结论 兰州地区住院婴幼儿Vit D营养状况有待改善,≤6月龄婴儿是Vit D缺乏的高危人群。冬春季应加强婴幼儿Vit D的补充,应鼓励婴幼儿坚持户外活动及补充Vit D。     

儿童孤独症谱系障碍的环境危险因素研究

目的 了解与儿童孤独症谱系障碍(ASD)发病相关的可能环境危险因素。方法 采用病例对照研究的方法,选择诊断为ASD的男童81例、全面发育迟缓(GDD)男童74例及健康体检男童163例作为研究对象,采用自制儿童养育环境调查表记录一般人口学资料、家庭社会经济情况、父母生活习惯及环境接触、母亲孕期健康状况、儿童出生时情况、生后养育环境等资料,运用多因素logistic回归分析法调查ASD和GDD发生的环境危险因素。结果 多因素logistic回归分析显示母亲职业毒物接触、孕期疾病及被动吸烟史、儿童出生地点、出生后第2年户外活动、与同龄儿童交流机会等6项环境危险因素与儿童ASD患病有显著相关性(OR值分别为20.675、3.559、2.422、2.646、23.820、5.081,PP结论 母亲职业毒物接触、孕期疾病及儿童出生地点级别低可能是与ASD特异关联的危险因素,而孕期被动吸烟、与同龄儿童交流机会及第2年户外活动少是儿童ASD的非特异性环境危险因素,提示ASD的发生发展可能受基因与环境因素交互作用的影响。     

母亲孕期补充叶酸与其子女孤独症谱系障碍发病风险的Meta分析

目的定量综合分析母亲孕期补充叶酸与其子女孤独症谱系障碍(ASD)发病风险的相关性。方法计算机全面检索PubMed、Embase、Scopus、Corchrane Liabrary、EBSCO、中国知网、万方、维普及中国生物医学文献数据库等电子数据库,收集有关母亲孕期叶酸补充与儿童ASD发病风险的文献,以OR及其95%CI为合并效应量,运用Stata 12.0软件进行Meta分析,并进行发表偏倚评估和敏感性分析。结果根据纳入及排除标准共纳入10篇文献,包含15项研究,累计病例4 459例,对照1 225 835例。Meta分析结果显示,总体人群中母亲孕期补充叶酸可显著降低其子女ASD发病风险(OR=0.798,95%CI:0.669~0.952,P=0.012)。亚组分析结果显示,亚洲人群中母亲孕期补充叶酸可能与其子女ASD发病风险降低有关(OR=0.664,95%CI:0.428~1.032),但未达到统计学意义(P=0.069);西方人群中母亲孕期补充叶酸可降低其子女ASD发病风险(OR=0.817,95%CI:0.671~0.996,P=0.045)。结论母亲孕期补充叶酸可能可降低其子女ASD发病风险,在西方人群中效果较明显。     

急性下呼吸道感染儿童的维生素D摄入

目的：明确维生素D（Vit D）摄入是否与儿童急性下呼吸道感染（ALRI）相关。方法：比较因毛细支气管炎或肺炎入院的5岁以下儿童和非配对、无呼吸道感染的同龄对照组儿童之间Vit D摄入的差别。197例儿童的看护人完成了问卷调查,内容包括人口统计变量、ALRI 危险因素和饮食。评估ALRI与Vit D摄入及其他危险因素的相关性。结果：ALRI组儿童的平均Vit D摄入为每日48 IU/kg,对照组为每日60 IU/kg。当控制年龄、民族、社会经济地位、北部地区居住、母乳喂养、免疫接种和接触吸烟等因素时,Vit D每日摄入<80 IU/kg 的儿童患ALRI 的可能性比每日摄入≥80 IU/kg 的儿童高4倍（OR=4.9; 95%CI: 1.5~16.4）。结论：为了避免罹患ALRI等疾病,5岁以下儿童可能需要摄入比现在推荐量更高的Vit D剂量。 因毛细支气管炎和肺炎是年幼儿童住院的最常见原因,增加Vit D的补充可能有重要的公共卫生保健意义。     

注意缺陷多动障碍的遗传方式研究

目的　探讨注意缺陷多动障碍 (ADHD)可能的遗传方式。方法　用分离分析和多基因阈值模型理论方法估计 54个ADHD家系各级亲属遗传度和ADHD再病风险。结果　 1 .ADHD的平均遗传度为 (1 0 2 .47± 9.78) % ;2 .一级亲属患病风险增高 (2 3 .0 % )明显高于群体患病率 (2 .6 % ) ,各级亲属患病率随着与先证者的亲属关系级数递增而剧减。结论　ADHD的遗传方式可能是具有主基因的多基因遗传。其遗传因素在决定疾病易患性变异上可能有重要作用 ,除微效、累加的多对基因外 ,可能还存在主基因效应。     

Food allergy and food‐based therapies in neurodevelopmental disorders

Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are neurodevelopmental disorders which occur in childhood and may persist into adulthood. Although the etiology of these disorders is largely unknown, genetic and environmental factors are thought to play a role in the development of ASD and ADHD. Allergic immune reactions, in prenatal and postnatal phases, are examples of these environmental factors, and adverse reactions to foods are reported in these children. In this review, we address the clinical and preclinical findings of (food) allergy in ASD and ADHD and suggest possible underlying mechanisms. Furthermore, opportunities for nutritional interventions in neurodevelopmental disorders are provided.     

What’s new in autism?

This review on autism spectrum disorder (ASD) focusses on recent insights in the clinical picture, such as continuity of the phenotype and the concept of broader phenotype, on epidemiology and on clinical issues relevant to physicians, including new methods for early screening and diagnosis, psychiatric and somatic co-morbidity, and the expansion of so-called complementary and alternative treatments. ASD is a disorder with mainly genetic causes and recent insights show that a variety of genetic mechanisms may be involved, i.e. single gene disorders, copy number variations and polygenic mechanisms. Technological advances in genetics have lead to a number of promising findings, which, together with other lines of fundamental research, suggest that ASD may be a disorder of connectivity in the brain, at least in a subgroup of patients. It is possible that part of the genetic load in autism actually reflects gene-environment interaction, but there is no evidence for purely environmental causes in a substantial number of cases. Clinical research suggests that ASD may be a multi-system disorder in at least a subgroup of subjects, affecting the gastro-intestinal (GI) tract, the immune system and perhaps other systems. Behavioural treatments remain the cornerstone of management, and are mainly aimed at stimulation of the domains of impaired development and reducing secondary behaviours. These treatments are constantly being refined, but the main progress in this area may be the increase of research on effectiveness.     

孤独症谱系障碍遗传检测意义及方法选择专家建议

孤独症谱系障碍（autism spectrum disorder,ASD）是一组高异质性的神经发育障碍性疾病,目前有关ASD的发病机制尚未阐明,但研究证实遗传物质即基因突变是ASD和ASD样症状的重要病因。遗传检测技术的不断发展,为认识ASD和ASD样症状的遗传背景奠定了良好的基础,该文就相关问题及建议进行叙述。     

Prävalenz und Determinanten des Asthma bronchiale

Asthma is the most common chronic disease in childhood. During the last decades of the past century, the prevalence of asthma increased in many western countries. Recent work has shown that in West Germany a plateau has been reached and that differences in the prevalence of asthma no longer exist between East and West Germany. The reasons for this increase in prevalence are not yet known, but it seems likely that environmental factors play a major role. Moreover, asthma is a complex disease with a multi-factorial pathogenesis to which various environmental factors might contribute in subjects with varying genetic susceptibility. In this context, exposure to pollutants such as passive smoking and traffic, as well as exposure to allergens, nutritional factors and obesity may play a role. In addition to these risk factors, there is also protective environmental exposure, such as nursery school day care in early life and growing up on a farm.     

Nutritional rickets around the world: causes and future directions

INTRODUCTION: Nutritional rickets has been described from at least 59 countries in the last 20 years. Its spectrum of causes differs in different regions of the world. METHODS: We conducted a systematic review of articles on nutritional rickets from various geographical regions published in the last 20 years. We extracted information about the prevalence and causes of rickets. RESULTS: Calcium deficiency is the major cause of rickets in Africa and some parts of tropical Asia, but is being recognised increasingly in other parts of the world. A resurgence of vitamin D deficiency has been observed in North America and Europe. Vitamin D-deficiency rickets usually presents in the 1st 18 months of life, whereas calcium deficiency typically presents after weaning and often after the 2nd year. Few studies of rickets in developing countries report values of 25(OH)D to permit distinguishing vitamin D from calcium deficiency. CONCLUSIONS: Rickets exists along a spectrum ranging from isolated vitamin D deficiency to isolated calcium deficiency. Along the spectrum, it is likely that relative deficiencies of calcium and vitamin D interact with genetic and/or environmental factors to stimulate the development of rickets. Vitamin D supplementation alone might not prevent or treat rickets in populations with limited calcium intake.     

Hyper IgM syndrome: the other side of the coin.

The hyper IgM syndrome is a rare, inherited immune deficiency disorder resulting from defects in the CD40 ligand/CD40-signaling pathway. X-linked hyper IgM is caused by defects in the CD40 ligand gene that prevent it from delivering an activation signal to antigen-presenting cells via CD40. Over the past year, defects in molecules involved in CD40 signaling have been shown to cause other forms of hyper IgM. These newly identified defects emphasize the importance of interaction between CD40 and its ligand in immunity and the role of these molecules in the pathogenesis of immune deficiency. With genetic defects in the hyper IgM syndrome identified, it is possible to diagnose patients definitively, to perform genetic screening, and to delineate the clinical manifestations of this syndrome. Further research may lead to novel and definitive therapeutic options for patients with hyper IgM syndrome.     

Genetic/environmental determinants of adult chronic obstructive pulmonary disease and possible links with childhood wheezing

Epidemiological evidence and similarities in underlying inflammatory mechanisms suggest that childhood respiratory conditions and adult onset chronic obstructive pulmonary disease (COPD) may have a common aetiology. The prevalence of COPD in the UK has been estimated to be 10% in males and 11% in females, and like asthma, is thought to have a polygenic contribution with a complex interplay between genetic and environmental factors. The only proven genetic factor so far identified in its pathogenesis is alpha1-antitrypsin deficiency, although this accounts for less than 1% of individuals with disease. Environmental exposures are significant but the observation that only 15% of smokers develop COPD and only some young children exposed in utero develop recurrent wheezing points to as yet undefined contributory genetic factors. The similarity in response to medication also suggests some features in common and a central question must be whether those adults who develop COPD had transient viral-associated wheeze (VAW) or non-specific bronchial hyperresponsiveness (BHR) in childhood? Similarities between some of the childhood wheezing syndromes and adult onset COPD invites a re-examination of possible links between the two conditions.     

自身免疫性心肌炎发病机制和临床意义的研究进展

自身免疫受遗传、免疫、激素和环境等因素影响,病毒感染可能会触发自身免疫.在各种类型心脏病的发病过程中自身免疫可能扮演一个重要角色,被定义为由心肌功能受损引起的心肌炎症反应,是导致扩张型心肌病最常见的病因.心肌炎可以由感染和非感染因素引起,非感染因素包括伴随心肌炎的自身免性疾病.为了更好地了解自身免疫性心肌炎,该文就自身免疫性心肌炎的发病机制和临床意义作一综述.