脑瘫患儿头颅MR与病因、智能发育相关性研究

对１５０例脑瘫患儿的头颅ＭＲ及智能发育进行了检测,结果表明：ＭＲ１４例正常,１３６例异常,将ＭＲ成像结果与ＤＱ及病因分别进行对比研究,发现ＭＲ异常者ＤＱ发育明显落后于正常者。ＤＱ异常率由高到低排列次序依次为脑发育畸形,脑室周围白质软化（ＰＶＬ）,脑萎缩,脑软化。     

脑性瘫痪患儿医院感染调查及相关因素分析

目的调查住院脑瘫患儿医院感染率,探讨医院感染发生的相关因素,为防治提供参考依据。方法对本院康复中心2003年3月至2007年7月1855例次住院脑瘫患儿出院病历资料进行回顾性调查,了解脑瘫患儿院感率和院感发生的部位,并对院感发生与年龄、合并症、其他系统疾病、住院天数的关系进行分析。结果1855例次脑瘫患儿院感按病例计算院感率为44.91%,二次院感率为7.06%,院感部位以呼吸道感染（82.20%）为主,消化道感染（12.72%）次之,院感率在不同年龄段有显著差异（P〈0.05）,住院天数（OR=1.021,95%C I：1.017～1.025）、有贫血（OR=1.949;95%C I：1.414～2.687）、佝偻病（OR=1.178,95%C I：1.053～1.565）、营养不良（OR=1.736,95%C I：1.324～2.120）是院感发生的危险因素。结论脑瘫患儿院感率高,以呼吸道和消化道感染为主,低年龄、住院时间长、合并贫血、佝偻病、营养不良是脑瘫患儿院感发生的主要危险因素,提高脑瘫患儿免疫力、适当缩短住院治疗天数、治疗其他系统疾病是预防院感发生的重要措施。     

影响脑智力发育因素的探讨

随着社会的发展，智力引起人们极大的关注，智力的物质基础—脑及脑发育的研究已广泛深入。怎样促进脑细胞的发育，消除影响脑细胞发育的不利因素，提高智力，直接关系到优生优育和中华民族素质的提高。人类胚胎发育大致可分为三个时期〔１〕，胚层前时期，胚胎时期，胎儿...     

定西地区脑瘫患儿筛查病因分析早期防治研究

目的对146例脑瘫患儿的智力发育进行门诊遗传咨询检查筛查、结果表明绝大部分患儿智力发育迟缓,在神经系统表现明显,在语言能力方面表现相对较轻,患儿分析的结果显示,以早产、窒息、窘迫、缺氧最多见,习惯性流产和先兆流产及孕早期病毒感染,外界因素等.加强贫困地区孕期保健检查及产前检查、减少脑瘫儿的发生,对农村育龄青年宣传优生优育知识,培训村级接生员和儿科医师对脑瘫的早期预防措施,提高贫困地区儿童的健康.     

南通地区遗传咨询患儿细胞遗传学分析与临床研究

目的研究遗传咨询患儿中染色体异常核型的发生率。方法本文自2000年1月至2008年2月对174例年龄在14周岁以内的遗传咨询患儿做了外周血淋巴细胞染色体核型分析,通过胰酶消化,G显带,必要时进行C显带检查,显微镜下进行核型分析。结果在因智力低下、性分化异常、身材矮小等前来行遗传咨询的174例患儿中,共检出异常核型61例,异常率35．06％。常染色体结构和数目异常49例,占异常核型的80．33％（49／61）,性染色体结构和数目异常12例,占19．67％（12／61）。男患儿114例,检出异常核型30例,异常率26．32％（30／114）;女患儿60例,异常核型31例,异常率51．67％（31／60）。结论异常染色体是导致智力低下、性发育异常、身材矮小等疾病的重要原因之一,对指导临床诊疗具有重要参考意义,因此染色体检查是十分必要的。     

129例智力低下患儿的染色体核型分析

智力低下(MR)是指在发育期内由于受不同因素的影响而导致中枢神经系统发育障碍,智力功能明显落后于同龄正常儿童水平,同时伴有适应性行为缺陷.病因复杂,患病率高,是导致人类残疾的主要原因之一;也是影响人口素质的重要因素.我们对129例先天性智力低下患儿进行了染色体核型分析,现将结果报告如下.     

智力低下脑瘫患儿的病因与血清中微量元素关系探讨

采用Ｇｅｓｅｌｌ发育商测试的方法及电感耦合等离子发射光谱法对１００例伴有智力低下的脑瘫患儿的发育商（ＤＱ）及血清中锌、铜、锰３种微量元素进行了检测,结果表明：患儿组血清中３种微量元素明显低于正常对照组,差异非常显著（Ｐ〈０．００１）。经、中、重、极重４种ＤＱ落后程度不同患儿的３种微量元素对比,ＤＱ落后程度越重,微量元素锌降低越明显,提示微量元素在脑瘫的病因及智力低下的发生上起着重要的作用。     

小儿脑性瘫痪与孕妇嚼食槟榔的相关性研究

目的通过对全市0～7岁患儿的患病率及相关因素调查,了解湘潭市特殊生活习惯(嚼食干果制槟榔)与小儿脑性瘫痪发病关联度.方法?参加调查的人员进行统一培训并经考核合格,调查时严格按照课题设计要求进行,调查时间为2002年8～10月. 结果共调查0～7岁儿童179 895人,确诊为小儿脑性瘫痪385名,患病率为2.14‰,高危因素以新生儿窒息、低体重、早产为前3位,统计学处理孕妇孕期嚼食干果制槟榔与小儿出生低体重和早产具有显著性关联.结论嚼食干果制槟榔与小儿脑性瘫痪具有相关性,易导致早产、出生低体重,孕妇应慎食.     

小儿脑穿通畸形的临床表现、CT及病因分析（附33例报告）

本文报告33例小儿脑穿通畸形。脑瘫、精神发育迟滞和癫痫为最常见的临床表现。CT具有特殊诊断价值。其病因未完全确定，中枢神经系统损害可能非单一因素．可能与血管异常有关。在经CT扫描的555例精神发育迟滞或／和脑瘫中、本症占5．9%，是小儿致残的重要原因之一．提出防治本病的重要性。     

早产儿血清NSE、IL-6水平测定对筛查脑性瘫痪高危儿意义的研究

目的探讨早产儿脐血及静脉血IL-6和NSE的水平与脑损伤的关系以及用以辅助筛查出脑瘫高危儿人群的价值.方法选胎龄≤35w和/或出生体重＜2000g的早产儿脐血32例,静脉血30例,足月儿脐血、静脉血对照各20例,检测血清IL-6、NSE水平.两组均随访至3岁(死亡及诊断为脑瘫者终止).采用SAS6.12统计软件进行成组设计t检验或秩和检验.并以ROC曲线分析筛查值.结果1.早产儿脐血、静脉血组IL-6、NSE水平较各自对照组平均水平明显增高(P＜0.05).2.脑瘫组IL-6水平、脐血及静脉血NSE水平均显著高于非脑瘫组(P=0.0140、0.0255及0.0095).结论IL-6、NSE水平与围产期脑损伤有关,以脐血IL-6≥305.03pg/ml,NSE≥8.1175μg/l作为筛查脑瘫高危儿标准时具有较好的灵敏度与特异度.     

Hand skill assessment with a reduced version of the Peg Moving Task (PMT-5) in children: normative data and application in children with cerebral palsy.

This paper proposes a simple method of hand skill assessment in children that can be useful in clinical practice. A reduced 5-hole version of Annett's Peg Moving Task was used to quantify hand skill bilaterally in 435 normally developing preschool and school-children, and adolescents aged 3-18 years from Brazil. The cross-cultural validity of the normative data obtained in Brazil was verified in 157 school-children aged 6-11 years from France. An application in 76 children with cerebral palsy (hemiplegia 21, diplegia 34, triplegia 6, mixed type 15) showed very important variability of the deficits in hand function within each subtype of cerebral palsy (CP). Hand deficits were more severe in children in special schools than in children in regular schools within each CP subtype. A qualitative analysis showed which difficulties during the execution of the task were specific to children with CP and which were also observed in normally developing children.     

Poly(ADP-ribose) polymerase (PARP) and DNA-fragmentation factor (DFF45): expression and correlation in normal, hyperplastic and neoplastic endometrial tissues

This study evaluated the immunohistochemical expression of poly(ADP-ribose) polymerase (PARP) and DNA fragmentation factor 45 (DFF45) in normal endometria (NE, n=13), non-atypical (NAH, n=22) and atypical hyperplasia (AH, n=14), endometrioid carcinoma (EC, n=34), serous carcinoma (SC, n=10), and clear cell carcinoma (CCC, n=2). With regard to quantity and intensity of positively stained cells, immunostaining was scored as negative, low, and strong. Nuclear PARP immunoreactivity was found in all cases. If present, DFF45 immunoreactivity was detected predominantly in the nucleus and to some extent in the cytoplasm. PARP immunoreactivity increased significantly from NE via NAH to AH (P=0.0004), and decreased from AH to endometrial carcinomas (P=0.0054). DFF45 immunoreactivity increased significantly from NE to NAH and to AH (P=0.0009). No significant differences were calculated between AH and endometrial carcinomas (P=0.7495). FIGO stages and tumor grades could not be characterized by PARP and DFF45 immunoexpression (P=1.000 and 0.7383, as well as P=0.3034 and 0.7533, respectively). Pearson correlation revealed significant associations of PARP and DFF45 immunoscores for all diagnostic categories of NE, NAH, AH, EC, and SC/CCC. Immunoexpression of PARP and DFF45 is apparently altered in endometrial carcinomas as compared with non-neoplastic endometrial tissues, indicating impaired mechanisms of apoptosis in the former.     

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome

In a male patient with developmental delay, autistic behaviour, obesity, lymphedema, hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb) was identified. This observation contributes to the characterization and dissection of the 5p13 duplication syndrome. The possible role of increased NIPBL gene dosage is discussed.     

Fragile (X) X-linked mental retardation I: Relationship between age and intelligence and the frequency of expression of fragil (X)(q28)

Members of eight Saskatchewan families with fragile (X) X-linked mental retardation were studied in an attempt to relate frequency to age and intelligence. The mean IQ of 37 affected men was 35 (range 10–66). The mean IQ of 32 carriers was 88 (range 57–119), and the mean IQ of 13 females who remain at risk for being carriers, have no affected sons, and who failed to demonstrate the fra(X) was 100 (range 78–126). We demonstrated a significant inverse relationship between age and frequency of the fra(X) in carriers and in affected males. However, we demonstrated a more highly significant inverse relationship between frequency of the fra(X) and IQ in carriers but to a lesser extent in affected males. Of 32 carriers, only 3 (9.4%) did not demonstrate the fra(X) after addition of 5-fluoro-2′-deoxyuridine (FUdR) to the folic acid and thymidine-reduced culture medium. From these data we would recommend that chromosome studies in individuals at risk for fra(X) X-linked mental retardation be carried out at the youngest age and that the addition of FUdR to culture medium is useful in carrier identification. It is clear that, in at least the carriers, a lower expression of the fra(X) is highly significantly correlated to higher intelligence.     

Risk-factor changes in wives with husbands at high risk of coronary heart disease (CHD): The spin-off effect

This study of 220 wives of participants from four of the 22 clinics in the Multiple Risk Factor Intervention Trial (MRFIT) addresses the question of whether spouses of men exposed to a continuous coronary heart disease (CHD) risk-factor intervention program (SI group) make changes in their own risk status compared to wives of men who did not receive the intervention program (UC group). Total serum cholesterol and low-density lipopro-tein (LDL) cholesterol were significantly lower for the SI wives. These differences were found for both hypertensive and normotensive wives, although the magnitudes were much greater for the hypertensive wives. There were also significant differences between the two groups of wives in the food-record rating and in dietary-knowledge scores, indicating that the probable mechanism for the beneficial effect of the intervention with respect to cholesterol levels was the change in the family diet. Although not statistically significant, differences indicating a lower risk for SI wives were found for diastolic blood pressure. There was also a greater mean reduction in cigarettes per day for SI wives who smoked.This work was supported by NHLBI Grant l RO1 HL 27142-01.     

A correlation analysis of HHV infection and its predictive factors in an HIV-seropositive population in Yunnan,China

Human herpesviruses (HHVs) have a particularly high prevalence in certain high-risk populations and cause increased morbidity and mortality in patients with acquired immunodeficiency syndrome (AIDS). Screening and treating subclinical HHV infections reduce human immunodeficiency virus (HIV) infection incidence, disease progression, and transmission. However, there are few studies on HHVs, HIV coinfection rates, and their related risk factors. We aimed to clarify the prevalence of all eight HHVs in peripheral blood samples collected from HIV-positive patients, and explore the association of HHV infection in HIV-positive patients in an HIV-seropositive population in Yunnan. We recruited 121 HIV-positive patients with highly active antiretroviral therapy (HAART) and 45 healthy individuals. All the eight HHVs were detected using polymerase chain reaction and their epidemiological information and clinical data were collected and statistically analyzed. A high prevalence of HHVs (89.3%) was observed in individuals with HIV infections and with herpes simplex virus (HSV)-2 (65.3%), and HSV-1 (59.5%) being the most common. Coinfection with more than two different HHVs was more common in patients with HIV infections receiving HAART (72.7%) than in healthy controls. Older age, being married, higher HIV-1 plasma viral loads, and use of antiviral protease inhibitors were independently correlated with an increased frequency of HHVs, but we found no association with CD4 count, WHO HIV clinical stage, and HIV infection duration. Our findings are of great significance for the prevention of HHV opportunistic infection in patients with AIDS and their clinical treatment.