单纯性肥胖儿童血浆内脂素水平与相关因素分析

目的 探讨单纯性肥胖儿童血浆内脂素水平与相关因素的关系.方法 2006年2月至2007年2月在天津医科大学总医院儿科内分泌门诊采用酶联免疫法测定50例单纯性肥胖儿童和30名正常对照的血浆内脂素.并分析血浆内脂素与收缩压、舒张压、体质量指数、体脂百分比、腰围、腰臀比及空腹血糖、空腹胰岛素水平、胰岛素抵抗指数、胰岛素敏感性指数及血脂的相关关系.结果 (1)肥胖组血浆内脂素质量浓度为(32.26±6.83)μg/L,对照组为(25.69±8.05)μg/L,肥胖组明显高于对照组(P<0.01).(2)内脂素与年龄、性别无相关关系;与体质量指数、体脂百分比、空腹血糖和胰岛素抵抗指数呈显著的正相关(相关系数r分别为0.333、0.301、0.486、0.290,P<0.01);与收缩压、舒张压、腰围、腰臀比、空腹胰岛素水平呈正相关(相关系数r分别为0.280、0.278、0.242、0.273、0.221.P<0.05);与胰岛素敏感性指数、高密度脂蛋白呈负相关(相关系数r分别为-0.269、-0.222.P<0.05);与总胆固醇、三酰甘油(甘油三酯)、低密度脂蛋白无相关关系.(3)多元逐步回归分析表明空腹血糖为影响内脂素最为显著的因素,标准化偏回归系数为0.486(P<0.01),R2=0.236.结论 血浆内脂素水平与肥胖程度、脂肪分布、糖、脂代谢密切相关.初步提示内脂素可能与儿童肥胖的发生发展密切相关.     

肥胖儿童含硫氨基酸体系的变化

目的探讨肥胖儿童血浆含硫氨基酸的变化,进一步阐明肥胖发生过程中的病理生理变化。方法随机选取北京市某中小学常规体检儿童116例。男77例,女39例;年龄(12.7±3.0)岁。按照《2005年全国学生体质健康调研工作手册》测量所有对象的体质量、身高,计算体质量指数(BMI),参照《中国学生超重、肥胖BMI筛查标准》,根据BMI将所有对象分为健康对照组(n=40)、超体质量组(n=40)和肥胖组(n=36)。收集各组儿童空腹静脉抗凝血,并分离血浆,采用日立7060型全自动生化分析仪,应用酶法检测其血浆总胆固醇(TC)和三酰甘油(TG),采用清除法检测其高密度脂蛋白(HDL-C)和低密度脂蛋白(LDL-C)。采用日立L-8500型氨基酸分析仪,应用柱前衍生反相高效液相色谱分析法检测其血浆蛋氨酸及胱氨酸水平。结果肥胖组、超体质量组儿童血浆TG水平显著高于健康对照组儿童[(1.16±0.54)mmol/L,(1.01±0.45)mmol/L,(0.80±0.29)mmol/L,F=6.682 P<0.05];HDL-C较健康对照组儿童显著降低[(1.30±0.23)mmol/L,(1.38±0.24)mmol/L,(1.59±0.30)mmol/L,F=12.02 P<0.001];血浆胱氨酸水平在肥胖组儿童[(28.68±6.29)μmol/L]和超体质量组儿童[(28.50±6.57)μmol/L]显著高于健康对照组儿童[(25.32±6.26)μmol/L](F=3.347 P<0.05);血浆蛋氨酸水平在3组之间无明显变化[(27.40±3.55)μmol/L,(26.75±3.52)μmol/L,(25.94±3.50)μmol/L,F=1.752 P>0.05]。结论肥胖儿童体内存在含硫氨基酸体系的代谢失衡。     

单纯性肥胖男童血清瘦素、性激素水平及其对性发育的影响

目的 探讨单纯性肥胖男性儿童血清瘦素、性激素水平及其对性发育的影响.方法 从8～14岁1 208例小学生中筛选出体质量指数(BMI)≥25 kg/m2的42例男童作为肥胖组,选择BMI 14.1～23.0 kg/m2的健康男童32例作为健康对照组,对所入选儿童用ELISA法测定其血清瘦素,放射免疫分析法测定其血清雌二醇(E2)、睾酮(T)水平,用游标卡尺测量其阴茎长度及睾丸体积.采用SPSS 10.0软件行组间t检验比较二组差异,直线相关分析单纯性肥胖儿童血清瘦素与E2、T的相关性.结果 肥胖组男童血清瘦素为(16.82±11.46)μg/L,较健康对照组(5.43±3.56)μ/L显著增高,二组比较有显著性差异(t=5.419 P<0.01).肥胖组男童血清E2水平为(20.51±16.42)ng/L,较健康对照组[(8.84±4.53)ng/L]显著增高,二组比较有显著性差异(t=3.903 P<0.01).肥胖组男童T水平为(1.64±0.85)μg,/L,低于健康男童[(2.07±0.98)μ/L],二组比较有显著性差异(t=2.018 P<0.05).肥胖组男童阴茎长度为(4.51±1.36)cm,低于健康男童[(5.64±0.99)cm],二组比较有显著性差异(t=3.965 P<0.01).肥胖组男童睾丸体积[(4.21±2.32)cm3]低于健康男童[(7.08±3.76)cm3],二组比较有显著性差异(t=4.043 P<0.01).瘦素与BMI、E2呈正相关(r=0.757,0.266 Pa<0.05),与T呈负相关(r=-0.368 P<0.01).结论 高水平瘦素可能是单纯性肥胖重要的生物学标志之一.单纯性肥胖男童存在性激素代谢紊乱、性发育落后,瘦素可能影响男性肥胖儿童的性发育.     

肾脏疾病儿童血浆促酰化蛋白水平测定的意义

目的 探讨肾脏疾病儿童血浆促酰化蛋白(ASP)与血浆C,、非酯化脂肪酸(NEFA)及血脂的关系.方法 肾脏疾病组48例,健康对照组279例.将48例肾脏疾病儿童分为3组:1.急性链球菌感染后肾小球肾炎(APSGN)组12例;2.狼疮性肾炎(LN)组4例;3.肾病综合征(Ns)组32例.用ELISA方法 检测各组血浆ASP水平,酶学比色法测定其NEFA水平,用酶学比浊法检测其血浆C3、血脂等生化指标.数据采用GraphPad Prism 4.0软件进行统计学分析.结果 1.APSGN组(81.8±24.8)nmol/L、LN组(90.9 ±28.2)nmoL/L和Ns组(101.4 ±399)nmolL血浆ASP水平明显高于健康对照组[(44.3±25.2)mnol/L P.<0.01];APSGN和LN组血浆C3,水平均低于健康对照组(Pa<0.05),Ns组与健康对照组比较C3,无明显变化.2.肾脏疾病各组存在一定程度血脂代谢紊乱.APSGN组血浆三酰甘油(TG)水平高于健康对照组,但无统计学差异(P>0.05),而高密度脂蛋白胆固醇(HDL-C)显著低于健康对照组(P<0.001).LN和NS组存在显著高TG、高TC和高低密度脂蛋白胆固醇(LDL-C)血症,LN组患儿还存在低血浆HDL-C水平(P<0.001),载脂蛋白(Apo)A和ApoB升高仅见于Ns组(P<0.01,0.001);各组NEFA水平无显著变化.3.肾脏疾病患儿血浆ASP水平与TG(r=0.301 P相似文献   

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目的观察二甲双胍治疗对高胰岛素血症肥胖患儿血清脂源性激素脂联素、抵抗素、瘦素水平的影响。方法2004-01—2005-02将武汉市儿童医院和同济医院54例高胰岛素血症肥胖患儿分为轻、中度肥胖组及重度肥胖组,均以二甲双胍治疗12周,测量治疗前后体重、空腹血糖、空腹胰岛素及脂源性激素脂联素、瘦素、抵抗素的变化。结果治疗前轻、中度肥胖组和重度肥胖组高胰岛素血症患儿空腹血糖水平与健康对照组比较差异无显著性(P>0.05),血清胰岛素、瘦素、抵抗素及胰岛素抵抗指数(HOMA-IR)均高于健康对照组(P<0.01),脂联素水平明显低于健康对照组(P<0.01)。二甲双胍治疗12周后与治疗前相比,血清胰岛素水平、胰岛素抵抗指数明显降低(P<0.01),轻、中度肥胖组及重度肥胖组血清瘦素水平分别由治疗前的(24.3±1.8)μg/L、(30.2±5.1)μg/L降低为治疗后的(19.6±6.3)μg/L、(24.7±5.3)μg/L,差异有统计学意义;抵抗素水平分别由治疗前的(16.5±6.0)μg/L、(22.3±5.2)μg/L升高为(22.0±5.1)μg/L、(30.6±11.7)μg/L,差异有统计学意义;轻、中度肥胖组和重度肥胖组血清脂联素水平治疗前分别为(8.4±3.2)mg/L、(6.5±1.2)mg/L,治疗后分别为(8.9±2.3)mg/L、(7.03±3.0)mg/L,治疗前后相比,P>0.05。体重指数(BMI)下降,但差异无显著性。结论二甲双胍能显著改善肥胖患儿胰岛素抵抗。降低血清瘦素水平可能是其改善胰岛素抵抗机制之一,但在对脂源性激素脂联素、抵抗素水平的改善上,有其局限性。     

单纯性肥胖患儿胰岛素抵抗与血脂的关系

目的探讨单纯性肥胖(肥胖)患儿胰岛素抵抗与血脂的关系。方法选取肥胖患儿50例为肥胖组(男23例,女27例),同期健康儿童30例为健康对照组(男14例,女16例)。对每位对象采用同一磅秤标准,测量其身高、体质量,并计算其体质量指数(BMI)。采用儿童标准血压测定法测定2组儿童血压。采用发光免疫法、快速测血糖法分别对2组儿童的血糖、血胰岛素、血脂进行检测,并计算稳态模型胰岛素抵抗指数(HOMA-IR)、胰岛素敏感指数(HOMA-ISI)、胰岛素和葡萄糖曲线下的面积比值反映组织对胰岛素的敏感性(AUC)、肝脏组织对胰岛素的敏感性(FINS/FBG),并应用SPSS12.0软件进行统计学分析。结果与健康对照组比较,肥胖组患儿HOMA-IR、AUC、FINS/FBG均显著增高(t=3.939、6.314、3.723,Pa<0.01),空腹三酰甘油(TG)亦显著增高(t=2.573,P<0.05),高密度脂蛋白(HLD)、HOMA-ISI显著低于健康对照组(t=-2.982、-4.75,P<0.05、0.01)。多因素Pear-son相关分析显示,肥胖组TG与HOMA-IR、AUC、FINS/FBG呈显著正相关(r=0....     

缺氧缺血性脑病新生儿血清尿酸与超敏C反应蛋白的变化

目的 探讨血清尿酸(UA)、超敏C反应蛋白(hs-CRP)在HIE新生儿中的变化及其意义.方法 选择2006年1月-2007年6月HIE新生儿36例为观察组.其中轻度14例,中度12例,重度10例.同期本院出生的健康新生儿24例为健康对照组.二组性别、年龄、胎龄、出生体质量等比较均无明显差异,具有可比性.二组新生儿均抽股静脉血4 mL,分离血清,免疫比浊法测定其血清UA、hs-CRP水平.结果 1.HIE患儿的急性期血清UA、hs-CRP水平分别为(419.78±85.58)μmol/L、(5.42±2.69)mg/L,明显高于健康对照组[(240.23 ±87.24)μmol/L、(2.58±0.89)mg/L](Pa<0.01),明显高于恢复期[(255.69 ±86.62)μmol/L,(3.21±1.27)mg/L](Pa>0.01);恢复期与健康对照组比较无显著性差异(Pa>0.05).2.重度HIE组患儿血清UA、hs-CRP水平分别为(508.34±87.79)μmol/L、(6.87±2.78)mg/L,中度组分别为(410.21±85.02)μmol/L、(4.54±2.17)mg/L,均明显高于轻度组[(319.89±85.04)μmol/L、(3.34±1.89)mg/L](Pa＜0.01),重度组显著高于中度组(Pa<0.05).3.HIE组患儿急性期、恢复期的血清UA与hs-CRP呈显著正相关(r=0.851,0.832 Pa<0.05);HIE患儿重度组、中度组、轻度组血清UA与hs-CRP呈显著正相关(r=0.846,0.835,0.827 Pa<0.05).结论 血清UA与hs-CRP的动态变化具有协同性,且与HIE的病情相平行,可反映HIE患儿病情轻重程度,可作为判断HIE疗效和判定病情严重程度的实验室指标.     

单纯性肥胖儿童青少年糖代谢异常的多因素分析

目的 了解单纯性肥胖儿童葡萄精代谢异常的相关危险因素以及各组分的相互关系.方法 符合单纯性肥胖标准对象370例,分别测量体质量、腰围、臀围,常规方法检测血糖、血脂、血清胰岛素等生化指标,酶联免疫吸附法(ELISA)测定血清白介素-6(IL-6)、肿瘤坏死因子-α(TNF-α),所有研究对象进行葡萄糖耐量试验检查.计算体质指数(BMI)、腰臀围比(WHR)、胰岛素抵抗指数(InRI),采用因子分析及Logistic回归模型分析葡萄糖代谢异常与各种相关因素的关系.结果 370例中葡萄糖代谢异常(IGM)检出率为21.08%.通过主成分因子分析方法在原始观察指标基础上提取7个因子,分别为WHR、BMI、总胆固醇(TC)、高密度脂蛋白(HDL)、InRI、TNF-α、IL-6,分别代表腹型肥胖、血脂异常、胰岛素抵抗和低度炎症反应,Logistic回归分析表明葡萄糖代谢异常(IGM)与WHR(OR=1.557,P<0.001)、TC(OR=1.246,P<0.001)、HDL(OR=0.861,P<0.001)、InRI(OR=1.255,P=0.005)、IL-6(OR=1.135,P=0.008)和TNF-α(OR=1.471,P=0.002)等因素独立相关.结论 儿童时期肥胖常伴有明显的葡萄精代谢异常,腹型肥胖、胰岛素抵抗、血脂异常和低度炎症反应与肥胖相关葡萄糖代谢异常密切相关.重视对葡萄糖代谢异常相关因素的监测与评价有助于肥胖相关并发症的预防及治疗.     

儿童血浆同型半胱氨酸水平与原发性高血压相关性研究

目的 了解儿童血浆同型半胱氨酸水平,分析其与儿童原发性高血压的相关性.方法 2004--2006年对北京3～18岁儿童和青少年2万余人进行了血压、血糖、血脂及肥胖的流行病学抽样调查.本研究随机抽取其中6～10岁原发性高血压儿童,男女各20例,另选学校体检血压正常的相应年龄段的男女儿童各20例作为对照组.两组儿童均经临床病史、体检、实验室检查除外其它心肺、泌尿、内分泌等疾病.采用高效液相色谱电化学内标法进行了血浆同型半胱氨酸水平测定.结果结果:男童高血压组与血压正常组收缩压分别为(119±9)mmHg、(102±5)mmHg(P<0.001),舒张压分别为(76±6)mmHg、(66±6)mmHg(P<0.001);女童高血压组与血压正常组收缩压分别为(118±7)mmHg、(101±7)mmHg(P<0.001),舒张压分别为(76±10)mmHg、(63±9)mmHg(P<0.001);本研究6～10岁血压正常儿童血浆同型半胱氨酸几何均值为(8.5±1.3)μmol/L,其中男童为(8.0±1.3)μmol/L,女童为(9.1±1.3)μmol/L,二者差异无统计学意义(P=0.126).男女高血压组血浆同型半胱氨酸水平高于血压正常组,男童分别为(10.2±1.5)μmol/L、(8.0±1.3)μmol/L,P=0.024;女童分别为(12.2±1.5)μmol/L、(9.1±1.3)μmol/L,P=0.008.控制性别,血浆同型半胱氨酸水平与年龄呈正相关(r=0.31.P=0.006),控制年龄、性别,血浆同型半胱氨酸水平与收缩压和舒张压均呈正相关,与BMI、血糖,甘油三酯及总胆固醇无明显相关性.进一步控制BMI、血糖、甘油三酯及总胆固醇,同型半胱氨酸与收缩压和舒张压的正相关关系依然存在,偏相关系数分别为(r=0.265,P=0.024)和(r=0.347,P=0.003).结论 儿童血浆同型半胱氨酸水平与血压正相关,高血压儿童血浆同型半胱氨酸水平高于血压正常的同龄儿童.     

伴阻塞性睡眠呼吸暂停低通气综合征的肥胖儿童血清瘦素和脂联素水平变化的意义

目的探讨伴阻塞性睡眠呼吸暂停低通气综合征(OSAHS)肥胖儿童血清瘦素(LP)和脂联素(AP)水平及其相关性。方法选择经多导睡眠记录仪(PSG)确诊的41例OSAHS患儿,将其分为OSAHS肥胖组(21例)、OSAHS非肥胖组(20例);另选保健科门诊就诊的28例儿童分为单纯肥胖组(18例)和健康对照组(10例)。采用放射免疫法检测各组儿童血清LP和AP水平,并分析OSAHS肥胖患儿血清LP和AP水平与体质量指数(BMI)、呼吸睡眠紊乱指数(AHI)的相关性。结果单纯肥胖组、OSAHS非肥胖组、OSAHS肥胖组血清LP水平依次升高,且均高于健康对照组(Pa<0.05),血清AP水平则依次减低,且均显著低于健康对照组(Pa<0.05);OSAHS肥胖组血清LP水平分别与BMI、AHI呈显著正相关(r=0.59,0.79 Pa<0.01),血清AP水平与BMI、AHI及LP水平呈显著负相关(r=-0.59,-0.67,-0.76 Pa<0.01)。结论OSAHS肥胖患儿血清LP水平升高、AP水平减低与其体内存在LP抵抗和AP合成反馈调节机制障碍有关,LP、AP、肥胖与儿童OSAHS有独立的相关性。     

Resurgence of measles in Singapore: profile of hospital cases

OBJECTIVE: To ascertain the profile of cases of measles seen at a general hospital during a recent outbreak that occurred despite a measles vaccination program. METHODOLOGY: A retrospective study from January 1991 to March 1998. All patients with measles (ICD code 055. 9) seen at the emergency unit or as inpatients were included. RESULTS: There were 87 cases identified. The diagnosis was clinical in all and proven serologically in 71%. Eighty-five per cent of the cases occurred between January 1997 and March 1998. There was a bi-modal age distribution with peaks in the very young (相似文献   

Allergic factors associated with the development of asthma and the influence of cetirizine in a double-blind, randomised, placebo-controlled trial: First results of ETA®

There is a common progression known as the allergic march from atopic dermatitis to allergic asthma. Cetirizine has several antiallergic properties that suggest a potential effect on the development of airway inflammation and asthma in infants with atopic dermatitis. Methods. Over a two year period, 817 infants aged one to two years who suffered from atopic dermatitis and with a history of atopic disease in a parent or sibling were included in the ETAC^® (Early Treatment of the Atopic Child) trial, a multi-country, double-blind, randomised, placebo-controlled trial. The infants were treated for 18 months with either cetirizine (0.25mg/ kg b.i.d.) or placebo. The number of infants who developed asthma was compared between the two groups. Clinical and biological assessments including analysis of total and specific IgE antibodies were performed. Results. In the placebo group, the relative risk (RR) for developing asthma was elevated in patients with a raised level of total IgE (≥ 30 kU/I) or specific IgE (≥ 0.35 kUA/I) for grass pollen, house dust mite or cat dander (RR between 1.4 and 1.7). Compared to placebo, cetirizine significantly reduced the incidence of asthma for patients sensitised to grass pollen (RR = 0.5) or to house dust mite (RR = 0.6). However, in the population that included all infants with normal and elevated total or specific IgE (intention-to-treat - ITT), there was no difference between the numbers of infants developing asthma while receiving cetirizine or placebo. The adverse events profile was similar in the two treatment groups. Discussion. Raised total IgE level and raised specific IgE levels to grass pollen, house dust mite or cat dander were predictive of subsequent asthma. Cetirizine halved the number of patients developing asthma in the subgroups sensitised to grass pollen or house dust mite (i.e. 20% of the study population). In view of the proven safety of the drug, we propose this treatment as a primary pharmacological intervention strategy to prevent the development of asthma in specifically sensitised infants with atopic dermatitis.     

A profile of respiratory symptoms in urban and rural South Australian school children

This report describes the cross-sectional analyses of data from the first year of a longitudinal study using questionnaire and respiratory function data over a 5 year period from a sample of rural South Australian school children. The cumulative or lifetime prevalences of respiratory symptoms were estimated in 825 rural and 1261 urban school children aged between 5 and 15 years in order to determine if the prevalence rates differed between rural and urban school children. The study found the overall cumulative prevalence of asthma and/or wheezy breathing (AWB) to be 24.1% in the rural school children compared to 27.6% in the urban school children. Most children developed AWB symptoms before the age of 7 years, with 20% reporting moderately severe symptoms and 10% having more than one attack per fortnight. The cumulative prevalence of bronchitis, loose/rattly cough (BLRC) differed significantly between the rural school children (34.1%) and urban school children (47.9%). The BLRC symptoms preceded the development of AWB in many cases. Urban school children also reported a higher prevalence of atopic conditions.     

Hauttemperaturen verschiedener Körperoberflächenareale des Rumpfes bei Säuglingen

Summary In two groups of infants (3–53 weeks old) skin temperatures were controlled in different areas of the trunk—i.e.: regions of sternum, lungs, heart, liver, spleen, kidneys—at different room-temperatures (group I: 21–25°C; group II: 29–32°C). Rectal temperatures of some probands in both groups also had been controlled simultaneously. A definite change in the reaction to heat was proofed in different periods of the first year of life. In higher environmental temperatures the skin temperature was almost constant at every controll-point of the skin, even in older infants. In lower environmental temperatures the skin temperatures lowered continuously with age till 7. to 9. moth. From 10. to 12. month the lowering of skin temperature discontinued. The rectal temperatures were relatively constant in all infants. Only in infants from 7. to 12. month, whose skin temperatures were controlled in lower as well as in higher environmental temperatures, a tendency to higher rectal temperatures was proofed in warmer environmental temperatures.The significance of these results is discussed.

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Untersuchungen mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Psychopathologie du syndrome d’Asperger et « aspérigisation » de la société contemporaine

The author has attempted here to point out, just for a start, the characteristics of Asperger syndrome from the point of view of psychopathology through a rereading of Hans Asperger's original paper (1944). This thesis merits reevaluation, if for no other reason than to fill the gaps in operational diagnostics based on the DSM. It is found by rereading that Asperger's view of the principal disturbances of autistic psychopathy include a “disturbance of natural evidence” or a “crisis of common sense”. This question of natural evidence that he evokes with regard to autistic psychopathy corresponds to W. Blankenburg's natural evidence, which constitutes a key concept for comprehending schizophrenia in the form poor-symptom (“symptomarme Schizophrenie”) that he observes in the speech of his patient Anne Rau. One can deduce from this that in terms of fundamental disturbances, Asperger syndrome and this “symptom-poor” schizophrenia overlap at the level of loss of natural evidence. It is moreover possible to classify Asperger syndrome among the disturbances of spacing in the sense meant by the evolutionary psychiatry of A. Stevens and J. Price. The author then develops our comprehension of Asperger syndrome from the point of view of the perspective proposed by the notion of resilience in people with Asperger syndrome and of the possibility for them, through these mechanisms of adaptation, to find in the organization of the personality of the “as if” type a position of relative equilibrium. They concur or overlap in the creation of crutches, of borrowed personalities secondarily legitimated by the reaction of the socius. This will end up in the production of inventions and œuvres (works). Clearly, one rarely encounters several cases that one could consider pertinently to be “successful” Asperger syndrome. Finally, the author notes that one can find a sort of isomorphism between Asperger syndrome and contemporary society when he proposes the term “asperigisation” to characterize our society, given that the equilibrium between emotion and logic is strongly disturbed in these patients, in whom logic undergoes hypertrophy while emotion is impoverished. From this perspective, the author hopes to suggest reasons for the increase in the number of cases of Asperger syndrome in the clinical setting and in society in general in our contemporary era.     

Bibliometric data: a disaster for many non-American biomedical journals

Bibliometric data published by the Institute of Scientific Information in Philadelphia (ISI), and which was previously discussed in Acta Paediatrica , has increasingly been used despite all the relevant and severe criticism that has been raised against this method of evaluating individual research results and grading scientific journals. It is obvious that the present trend regarding the use of bibliometric data as a basis for priorities and funding of research and for the promotion of individual scientists favours American-oriented research projects at the expense of those that are based on concepts of predominantly European relevance.

Conclusion: For the future of non-American research, it is important that no single super-power, i.e. the USA, should dominate scientific priorities. The condition for efficient European competition is that European Centres with high levels of competence for creative research and training of scientists from all over the world are established. In addition, it is important that the results of European research are published in prestigious European journals, as was the situation before World War II.     

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孤独症谱系障碍(autistic-spectrum disorders,ASDs)近年来患病率逐年攀升至1%左右,其症状往往伴随终生,成为严重威胁儿童健康和发展的神经发育性疾患;注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)是儿童期最常见的精神障碍,国内报道患病率为4.13%～5.83%,其症状可延续至青少年期,甚至到成年期[1]。这两类精神障碍在成年期的临床表现、共患病、治疗策略和预后与儿童期有哪些不同呢?本文通过回顾相     

Infiltrations of Epstein-Barr virus-carrying cells in granular lymphocyte-proliferative disorders corresponding to chronic active Epstein-Barr virus infection

A 21-year-old man with granular lymphocyte-proliferative disorders (GLPD) associated with chronic active Epstein-Barr virus (EBV) infection is described. Chromosomal analyses revealed several clonal abnormalities and two of them were mainly repetitious. High copy numbers of monoclonal EBV genome were also detected in the proliferative large granular lymphocytes (LGLs), indicating the monoclonal expansion of EBV-infected LGLs. The patient had an indolent course for several years, and there was no evidence of infiltrations of his bone marrow until the end stage. At autopsy, microscopic studies revealed marked infiltrations of LGL in the liver and spleen, and the infiltrating cells were NK-cell immunophenotype. The infiltrated LGLs showed latency I.     

LUTEINIZING HORMONE RECEPTOR MUTATIONS IN DISORDERS OF SEXUAL DEVELOPMENT AND CANCER

Human male sexual development is regulated by chorionic gonadotropin (CG) and luteinizing hormone (LH). Aberrant sexual development caused by both activating and inactivating mutations of the human luteinizing hormone receptor (LHR) have been described. All known activating mutations of the LHR are missense mutations caused by single base substitution. The most common activating mutation is the replacement of Asp-578 by Gly due to the substitution of A by G at nucleotide position 1733. All activating mutations are present in exon 11 which encodes the transmembrane domain of the receptor. Constitutive activity of the LHR causes LH releasing hormone-independent precocious puberty in boys and the autosomal dominant disorder familial male-limited precocious puberty (FMPP). Both germline and somatic activating mutations of the LHR have been found in patients with testicular tumors. Activating mutations have no effect on females. The molecular genetics of the inactivating mutations of the LHR are more variable and include single base substitution, partial gene deletion, and insertion. These mutations are not localized and are present in both the extracellular and transmembrane domain of the receptor. Inactivation of the LHR gives rise to the autosomal recessive disorder Leydig cell hypoplasia (LCH) and male hypogonadism or male pseudohermaphroditism. Severity of the clinical phenotype in LCH patients correlates with the amount of residual activity of the mutated receptor. Females are less affected by inactivating mutation of the LHR. Symptoms caused by homozygous inactivating mutation of the LHR include polycystic ovaries and primary amenorrhea.     

EXCITING NEW TREATMENT APPROACHES FOR PATHYPHYSIOLOGIC MECHANISMS OF SICKLE CELL DISEASE

During the past several decades, our understanding of the complex pathophysiology of vasoocclusion associated with sickle cell disease has improved greatly. Interaction of genes, hemoglobin molecules, red cell membrane and metabolic changes, cell-cell interactions and cell-plasma interactions, red cell adhesion to vascular endothelium, activation of coagulation, and vascular reactivity play a role in vaso occlusion. Penicillin prophylaxis of pneumococcal infections and appropriate use of blood transfusions and other supportive measures improved survival of sickle cell patients. Hydroxyurea made a major impact on sickle cell therapy when it was shown to decrease acute painful episodes, acute chest syndrome, and the need for blood transfusion in adults. Significant experience in the use of hydroxyurea has been accumulated in older children. The benefits and risks of hydroxyurea for younger children and long-term risks in all patients will be evaluated in future investigations. Other promising therapies include butyrate compounds, clotrimazole, magnesium supplementation, poloxamer 188, antiadhesion agents, anticoagulant approaches, and nitric oxide. Hemopoietic transplantation remains the only curative therapy. However, several transgenic mouse models are available for studies of gene therapy or other treatment approaches on biochemical, cellular, and pathologic effects of mutant genes.