儿童与自然人群慢性扁桃体炎患病率,基因频率及与遗？…

目的：分别调查学龄前组,学龄组及自然人群慢性扁桃体炎的患病率,结合家系分析,推算出其基因频率,探讨其与遗传相关的问题,并初步确定其可能的遗传方式。     

儿童肥胖遗传易感性研究发现相关基因

科学时报报道,首都儿科研究所在肥胖、代谢综合征等疾病的遗传易感性研究方面取得重大进展。据该所流行病学研究室主任米杰研究员介绍,该室围绕肥胖、高血压、血脂异常等复杂性疾病不断深入和拓宽研究领域,从不同层面研究解决成人心血管病早期预防的健康问题。其研究结果表明,欧洲人群中发现的肥胖相关基因位点在中国儿童青少年中同样起作用,成年人中发现的肥胖相关基因对儿童体质量指数（BMI）也有重要影响。     

儿童精神分裂症的发病机理及遗传探讨

精神分裂症是一种患病率高且医疗耗资大的慢性疾病 ,对社会和家庭造成巨大的压力及损害 ,是一种严重影响人类健康的多发病。现将我院遗传咨询门诊就诊的精神分裂症的患儿进行分析报道如下。资料与方法一、对象我院遗传咨询门诊 1994年～ 2 0 0 1年前来就诊咨询的精神分裂症患儿共 72例。其中男 4 8例 ,女性 2 4例 ,年龄为 5～ 15岁。患儿的诊断均符合中国精神疾病分类方案及诊断标准第二版修订本中精神分裂症的标准并排除了中枢神经系统器质性病变、感染性疾病及免疫性疾病。二、临床资料凡来我院遗传咨询门诊就诊的患儿均要详细询问病史 ,…     

中国汉族人群D11S2010基因座的遗传多态性研究

短串联重复序列 (short tandem repeats,STR)广泛存在于人类基因组中 ,是由 2～ 7bp核心序列串联重复构成 ,它的多态性主要由核心序列的数目变异所致 [1 ]。作为第 2代 DNA遗传标记 ,STR位点已广泛用于法医学个人识别和亲子鉴定。近年来 ,国内外学者为开发 STR位点做了许多工作 ,对于中国人群在不同民族及不同地区的遗传多态性也有一些报道[2 - 5] 。我们采用 PCR、PAG垂直电泳和银染的方法 ,对中国河北 16 8名汉族健康无关个体 D11S2 0 10位点进行了调查 ,同时对 10个家系进行了分析 ,获得了汉族人群 D11S2 0 10基因座群体遗传学…     

鄂伦春族等四个少数民族儿童多动综合征与遗传关系的探讨

本文对黑河地区内的鄂伦春族等四个少数民族现有小学的全部在校学生５２５人，进行了儿童多动综合征（下简称多动症）的遗传流行病学调查。该调查采用线索调查法，其诊断标准是按照１９８６年全国儿童多动症专题学术讨论会制定的诊断标准及有关附件进行的。结果：群体患病率为２．２９％，一级亲属患病率为１６．７％；此外，对本病的遗传因素和可能的致病因素，亦进行了调查，本病的遗传度为７０％。患儿一级亲属患病率近于群体患病率的＝１５．１３％（Ｐ＞０．０５），示实际调查资料与预期的理论数值很接近。因此，本病符合多基因遗传。     

儿童问题行为与家庭环境及教育观念的相关研究

目的探讨儿童问题行为的表现、程度及其差异性;它与家庭背景环境及家长不同教育观念的关系。方法采用Achenbach儿童行为量表(家长用卷),子女教育心理控制源量表Ploc及自编个人信息调查问卷对1～5年级6～11岁儿童800人进行评定。结果城郊小学生的问题行为存在差异,单双亲家庭小学生的问题行为存在差异,单双亲家庭儿童的家长教育观念存在差异,行为问题组与对照组小学生的家长的教育观念存在差异。结论通过改善家庭环境和氛围以及转变教育观念可以减少儿童的问题行为。     

中国不同人群常见药物代谢相关基因遗传多态性的研究进展

遗传背景的差异会导致不同人群对同一种药物产生药物效应差异。随着药物基因组学的研究与发展,探讨药物基因组学与群体遗传差异的关系有助于阐明药物代谢相关基因多态性在中国不同人群药物效应异质性中的重要作用。本文总结了常见药物代谢相关基因多态性在中国不同人群中的研究情况,旨在为中国不同人群的个体化治疗提供有价值的理论依据。     

中国不同人群常见药物代谢相关基因遗传多态性的研究进展

遗传背景的差异会导致不同人群对同一种药物产生药物效应差异。随着药物基因组学的研究与发展,探讨药物基因组学与群体遗传差异的关系有助于阐明药物代谢相关基因多态性在中国不同人群药物效应异质性中的重要作用。本文总结了常见药物代谢相关基因多态性在中国不同人群中的研究情况,旨在为中国不同人群的个体化治疗提供有价值的理论依据。     

陵水县小儿脑性瘫痪患病率、相关因素及GAD1基因相关性研究

目的 了解三亚地区小儿脑性瘫痪(cerebral palsy,CP)的患病率、相关因素及对其GAD1基因部分外显子进行研究,进而为该地区临床防治本病提供有利参考,实现优生优育的目的.方法 对2017年01月至2019年10月选择在海南省陵水县人民医院行健康体检的本地区8819名儿童及其中CP患儿、患儿GAD1基因部分外...     

家族性热性惊厥相关基因研究──Ⅰ·从家族表型分析遗传特点

热性惊厥（FC）是一种儿科常见疾病，具有明显的遗传倾向。我们对83个简单型FC家族进行了家系分析，并比较了不同性别的亲代在传递FC时，FC患病情况如首发年龄、首发最高体温、首发持续时间、首发发作次数和复发次数的差别。在排除了一系列有关因素影响后，我们推测FC为常染色体显性遗传的、具有不完全的外显率和表现度的单基因病，并存在与亲代的性别的某种相关性。这种相关可能体现了一种非孟德尔遗传特性，即基因组印迹，需做进一步的分子遗传学研究。     

11例小儿慢性肾功能不全的病因及临床特点

目的了解小儿慢性肾功能不全的病因及临床特点。方法回顾了我院收治的11例慢性肾功能不全患儿,男7例,女4例,年龄最小4个月,最大14岁,平均5岁。大于5岁小儿5例,小于1岁小儿6例。结果6例小婴儿慢性肾功能不全中婴儿型多囊肾1例,双肾发育不全1例,先天性肾病综合征1例,双肾发育异常伴尿道瓣膜、室间隔缺损、胆总管囊肿各1例。多以肾外症状就诊如：生长发育迟缓、腹包块、抽风、贫血等。5例较大的小儿为膀胱输尿管尿液返流Ⅳ级伴返流型肾病1例,原发性肾病综合征伴肾衰2例,慢性间质性肾炎1例,肾固缩1例,肥胖相关性肾病1例。结论小婴儿慢性肾功能不全多由先天性肾发育畸形所致,且多以肾外症状为表现,应引起重视。较大的小儿慢性肾功能不全多由获得性肾脏疾患所致;这些患儿如若尿改变不明显,肾功能异常明显,排除肾前、肾后因素所致者,应做肾穿刺活检明确病因。     

2000年至2007年围生儿死亡的相关因素分析及干预

目的讨论围生儿死亡的相关因素。方法回顾分析我院2000年1月至2007年12月分娩的围生儿死亡的临床资料。结果八年间围生儿死亡83例,发生率为6.79‰。早产、脐带因素、不明原因、胎盘因素、畸形及新生儿出生缺陷是围生儿死亡的主要因素。结论积极防治早产,促胎肺成熟,加强产前检查及宣教,重视产时监护,发现异常及时剖宫产,可减少围生儿死亡。     

Single-dose extended-release oral azithromycin vs. 3-day azithromycin for the treatment of group A β-haemolytic streptococcal pharyngitis/tonsillitis in adults and adolescents: a double-blind, double-dummy study

The azithromycin immediate-release formulation (AZ-IR) provides effective treatment for group A β-haemolytic streptococcal pharyngitis in adults. Single-dose therapy with a novel azithromycin extended-release (AZ-ER) formulation could reduce treatment failure and eliminate non-compliance contributing to antimicrobial resistance. A randomized, double-blind, double-dummy, multicentre trial was conducted comparing AZ-ER (single oral 2-g dose) with AZ-IR (3 days, 500 mg once daily) for the treatment of group A β-haemolytic streptococcal pharyngitis/tonsillitis in adults and adolescents ( n  = 598). The primary endpoint was bacteriological eradication at test -of-cure (TOC; day 24–28) in the bacteriological per-protocol population ( n  = 420). Bacteriological eradication was achieved in 85.4% (175/205) and 81.4% (175/215) of subjects in the AZ-ER and AZ-IR groups, respectively (95% CI  −3.1–11.1). Clinical cure at TOC occurred in 99.0% of subjects in the AZ-ER group and in 96.7% in the AZ-IR group. At long-term follow-up, bacteriological recurrence was observed in 5.5% (9/163) and 7.7% (12/156), respectively. Both treatments were well tolerated; and most adverse events (AEs) were mild to moderate in intensity. The most frequent treatment-related AE was diarrhoea, or loose stools, in 11% of both treatment groups. AZ-ER-treated and AZ-IR-treated subjects had AE burdens (AE  days/patient-year) of 7.6 days and 9.2 days, respectively. A similar trend in favour of AZ-ER was noted for treatment-related diarrhoea burden (1.9 days vs. 2.5 days). A single 2-g dose of AZ-ER is as effective and well tolerated as 3 days of AZ-IR (500 mg once daily) for treating group A β-haemolytic streptococcal pharyngitis/tonsillitis in adults and adolescents.     

The coordination of eye, head, and hand movements in a natural task

Relatively little is known about movements of the eyes, head, and hands in natural tasks. Normal behavior requires spatial and temporal coordination of the movements in more complex circumstances than are typically studied, and usually provides the opportunity for motor planning. Previous studies of natural tasks have indicated that the parameters of eye and head movements are set by global task constraints. In this experiment, we explore the temporal coordination of eye, head, and hand movements while subjects performed a simple block-copying task. The task involved fixations to gather information about the pattern, as well as visually guided hand movements to pick up and place blocks. Subjects used rhythmic patterns of eye, head, and hand movements in a fixed temporal sequence or coordinative structure. However, the pattern varied according to the immediate task context. Coordination was maintained by delaying the hand movements until the eye was available for guiding the movement. This suggests that observers maintain coordination by setting up a temporary, task-specific synergy between the eye and hand. Head movements displayed considerable flexibility and frequently diverged from the gaze change, appearing instead to be linked to the hand trajectories. This indicates that the coordination of eye and head in gaze changes is usually the consequence of a synergistic linkage rather than an obligatory one. These temporary synergies simplify the coordination problem by reducing the number of control variables, and consequently the attentional demands, necessary for the task. Electronic Publication     

反复呼吸道感染儿童免疫功能及微量元素的探讨

目的探讨反复呼吸道感染儿童血清微量元素、铅与免疫功能的相关性；方法选取100例反复呼吸道感染儿童，对其进行血清锌、铁、钙、铅和IgA、IgE、IgG、IgM的测定，并对结果进行相关性分析；结果血清IgG分别与锌、铁呈显著正相关（r=0．551、r=0．412，P〈0．01），血清IgE与血清铁呈显著负相关（r=-0．449，P〈0．01），血铅与血清IgA呈显著负相关（r=-0.573，P〈0．01）；结论血清铁、锌缺乏、铅含量过高对机体免疫功能有一定影响，可不同程度的造成免疫功能下降，在反复呼吸道感染发生发展过程中具有重要意义。     

迁延性慢性腹泻病患儿回肠末端纹状缘肽酶及双糖酶活性的初步研究

目的测定迁延性慢性(迁慢性)腹泻病患儿回肠末端纹状缘肽酶及双糖酶活性水平,探讨回肠末端黏膜组织学形态与纹状缘肽酶、双糖酶活性水平的关系。方法收集结肠镜检查患儿回肠末端黏膜标本行病理学检查,以迁慢性腹泻病及非腹泻病组患儿为观察对象,两组中病理学检查为慢性炎症者为慢性炎症组,余为黏膜正常组。非腹泻病组中病理学检查结果正常者为对照组,测定回肠末端黏膜标本中纹状缘肽酶和双糖酶活性水平。结果2007年7月至2008年3月在广州医学院附属广州市儿童医院共收集到27例回肠黏膜标本,光镜下见其绒毛形态均正常,病理学检查10/27(37.0%)例有慢性炎症。迁慢性腹泻病组纹状缘肽酶及双糖酶活性水平与对照组差异均无统计学意义(P>0.05),慢性炎症组纹状缘肽酶及双糖酶活性水平与黏膜正常组差异均无统计学意义(P>0.05)。结论回肠末端黏膜绒毛正常的迁慢性腹泻病患儿,其纹状缘肽酶及双糖酶活性水平无明显变化。慢性炎症且绒毛正常的回肠末端黏膜,其纹状缘肽酶活性及双糖酶无明显变化。     

Hemodynamic responses to laboratory stressors in children and adolescents: The influences of age, race, and gender

The objectives of the present study were threefold: (a) to compare the patterns of hemodynamic responding of children and adolescents during behavioral challenges, (b) to examine whether previously reported cardiovascular reactivity differences between Black and White children are dependent on pubertal status, and (c) to assess whether gender differences in hemodynamic response reported for adults is similar in children. One hundred fifty-nine children (ages 8–10 years) and adolescents (ages 15–17 years), equally divided along gender and racial lines, participated in a laboratory protocol consisting of a reaction time task, a mirror tracing task, a cold forehead challenge, and a stress interview. Results indicated that adolescents responded with greater β-adrenergic activation than did children and that gender differences in reactivity often reported for adults emerged more clearly in the adolescents than in the children. This study failed to replicate prior findings of greater vasoconstrictive responses in Black children as compared with White children.     

Non-participants in a general population study of men, with special reference to social and alcoholic problems

The bias introduced by non-participation in a study depends on the size and the composition of the non-participant group. Out of 10,000 men invited to a screening examination in a large primary prevention trial in G?teborg, Sweden, 25% did not come to the examination. The non-participants could be shown to be registered by the Board of Social Welfare for social problems and alcohol abuse to a greater extent than the participants in the study. The annual mortality among the non-participants was about twice that of the participants during the entire follow-up period of 11.8 years. The incidence of non-fatal myocardial infarction was not significantly higher in non-participants. Coronary death, on the other hand, was significantly more common among those not attending the examination (3.5 vs. 7.6%). Participants registered for alcoholic problems had coronary death rates approaching those of the non-participants. Sudden coronary death accounted for most of the excess coronary mortality. Most of the excess mortality in the non-participant group was from other causes than cardiovascular diseases and cancer but even so, about one third of the excess deaths could be attributed to coronary heart disease. Possible explanations of this excess coronary mortality include that non-participants may smoke more, more frequently have alcoholic problems and that non-participation may reflect an unwillingness to seek medical care even in the event of illness.