69例小儿遗传病分析

本文报告小儿遗传咨询门诊及新生儿科确诊的遗传病:染色体病23例,其中核型异常16例,结构异常7例;常染色体显性遗传病11例,常染色体隐性遗传病28例;性连锁遗传病6例;血红蛋白异常1例,共计69例。常染色体遗传病占55％,染色体异常综合征占33％。常染色体病种类繁多,尽管发病率不高,但危害很大,给诊断带来困难。     

Monosomy 9q and trisomy 16q in a case of congenital solitary infantile myofibromatosis

Although infantile myofibromatosis (IM) is the most common fibrous proliferation of infancy, many aspects of this benign lesion have not been explored. IM histogenesis is still poorly understood, despite immunohistochemical staining and ultrastructural features that suggest a myofibroblastic origin. IM diagnosis is often made difficult by the predominance of small primitive spindle cells over myofibrobasts and the presence of intravascular growth. Genetic information is scarce, with only one karyotyped case. Here we describe a case of solitary IM discovered at birth in an otherwise healthy girl. The tumor was well circumscribed, arranged in nodules and made up of ovoid cells without atypia, in a myxoid background. Immunohistochemical evaluation indicated a myofibroblastic differentiation. The cytogenetic and fluorescence in situ hybridization analyses revealed an abnormal chromosome 9, derived from an unbalanced whole-arm translocation between chromosomes 9 and 16. On both chromosomes, the breakpoints were located in the pericentric heterochromatic region. This clonal abnormality has not been reported in other tumors and is different from the chromosome 6q deletion reported in the single previous reported IM karyotype.     

肺炎患儿白细胞变形能力和粘附功能的变化及临床意义

肺炎患儿白细胞变形能力和粘附功能的变化及临床意义林荣军１刘成玉２潘玉娟３徐丽园研究表明，白细胞与急性肺组织损伤有密切关系［１］，白细胞在肺内聚集是产生急性肺损伤的重要环节，而细胞粘附分子（ｃＡｍｓ）介导的各种白细胞的粘附，特别是中性粒细胞粘附和跨膜转...     

2001至2005年上海部分地区腹泻住院患儿诺若病毒分子临床流行病学研究

目的通过对上海地区腹泻住院患儿进行诺若病毒检测,对其流行株进行基因序列的测定,以了解诺若病毒在上海地区的流行特征,为该病原体所致腹泻的防治提供基础数据和理论依据。方法收集2001至2005年复旦大学附属儿科医院5岁以下腹泻住院患儿的粪便标本。首先进行轮状病毒的检测,在轮状病毒抗原阴性标本中,每隔8个标本按编号顺序行机械随机抽样,建立RT-PCR方法进行诺若病毒的检测。对PCR产物进行双向测序,测序结果通过Clustal W和Mega 4.1软件进行分析。结果研究期间共收集腹泻患儿粪便标本5534份,轮状病毒抗原阴性4084份,机械随机抽得484份用于诺若病毒检测,45/484份(9.3%)检测到诺若病毒。对诺若病毒感染季节分布和患儿年龄特点的分析表明,除4月和7月份未检测到诺若病毒外,其余各月份均检测到诺若病毒,其高发的月份是8至11月。5~6月也呈一个小高峰。77.8%(35/45)的患儿<2岁,其中6~11个月的患儿所占比例最高,达35.6%(16/45),<6个月的婴儿占20%(9/45)。GⅡ-4型是这5年间尤其是2003年之后的主要流行型别,2001至2002年尚存在其他的流行型别GⅡ-3和GⅡ-7...     

儿少心理问题筛查表的编制和信效度分析

目的：编制一个用于儿童和青少年的心理问题筛查表，检验其信度和效度。方法：用新编的心理问题筛查表测查全国12个省（市）9278名儿童或他们的父母和143名临床样本，间隔5周的重测样本87人，父母和儿童报告一致性检验样本56人，效标效度样本65人。用相关分析和因素分析考查量表的信度和效度。结果：新编筛查表具有较好的信度（重测信度为0．761、Crobacha系数为0．949、分半信度为0．868、评定者信度为0．799）；正常儿童在筛查表上的得分显著高于临床样本的得分；新编筛查表总分和分量表与儿童行为量表总分和类似分量表有显著的相关：探索性因素分析和验证性斟素分析与量表编制者的理论构想一致。结论：儿少心理健康量表具有较好的信度和效度．可以用于儿童和青少年的心理问题的筛查．     

IL-4–BATF signaling directly modulates IL-9 producing mucosal mast cell (MMC9) function in experimental food allergy

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Characterisation of macrolide-non-susceptible Streptococcus pneumoniae colonising children attending day-care centres in Athens, Greece during 2000 and 2003

Nasopharyngeal Streptococcus pneumoniae isolates colonising young children are representative of isolates causing clinical disease. This study determined the frequency of macrolide-non-susceptible pneumococci, as well as their phenotypic and genotypic characteristics, among pneumococci collected during two cross-sectional surveillance studies of the nasopharynx of 2847 children attending day-care centres in the Athens metropolitan area during 2000 and 2003. In total, 227 macrolide-non-susceptible pneumococcal isolates were studied. Increases in macrolide non-susceptibility, from 23% to 30.3% (p <0.05), and in macrolide and penicillin co-resistance, from 3.4% to 48.6% (p <0.001), were identified during the study period. The M resistance phenotype, associated with the presence of the mef(A)/(E) gene, predominated in both surveys, and isolates carrying both mef(A)/(E) and erm(AM) were identified, for the first time in Greece, among the isolates from the 2003 survey. Pulsed-field gel electrophoresis analysis of the isolates from the 2000 survey indicated the spread of a macrolide- and penicillin-resistant clone among day-care centres. The serogroups identified most commonly in the study were 19F, 6A, 6B, 14 and 23F, suggesting that the theoretical protection of the seven-valent conjugate vaccine against macrolide-non-susceptible isolates was c. 85% during both study periods.     

3～7岁儿童屈光参差的临床研究

目的　研究儿童屈光参差的临床特点,探讨屈光参差对视功能的影响及屈光参差程度与弱视程度的关系.方法　对就医的3～7岁儿童进行视力筛查,视力异常者用阿托品眼膏散瞳验光,选出符合屈光参差标准的儿童.所有患儿均配镜后进行弱视治疗,治疗期间遮盖健眼、随访.结果　①屈光参差占屈光不正的15 .5 3% ,单纯球镜屈光参差2 1例(32 .8% ) ,单纯柱镜屈光参差37例(5 7.8% ) ,球镜及柱镜屈光参差同时存在6例(9.4 % ) .所有患儿追踪观察1年,屈光参差度无明显变化;②屈光参差程度越大双眼视力差越大.结论　①屈光参差是影响儿童视功能,造成弱视的原因之一;②屈光参差的程度越大,双眼视力差越大,治疗的难度加大.因此屈光参差必须早期发现,早期治疗.     

Glucose and free fatty acid utilization during prolonged exercise in prepubertal boys in relation to catecholamine responses

Summary Ten prepubertal boys performed 60-min cycle exercise at about 60% of their maximal oxygen uptake as previously measured. To measure packed cell volume, plasma glucose, free fatty acids (FFA), glycerol and catecholamines, blood samples were drawn at rest using a heparinized cathether and at the 15th, 30th and 60th min of the exercise and after 30 min of recovery. At rest, the blood glucose concentrations were at the lowest values for normal. Exercise induced a small decrease of blood glucose which was combined with an abrupt increase of the noradrenaline concentration during the first 15 min. The FFA and glycerol concentrations increased throughout the exercise linearly with that of adrenaline. Compared to adults, the FFA uptake expressed per minute and per litre of oxygen uptake was greater in children. These results suggested that it is difficult for children to maintain a constant blood glucose concentration and that prolonged exercise provided a real stimulus to hypoglycaemia. An immediate and large increase in noradrenaline concentration during exercise and a greater utilization of FFA was probably used by children to prevent hypoglycaemia.     

84例变应性鼻炎患儿过敏原皮内试验结果分析

目的 了解新疆地区变应性鼻炎患儿气传过敏原的分布状况,探讨气传变应原分布的地区差异及产生原因,为本地区儿童变应性鼻炎的防治方案提供客观依据.方法 采用阿罗格(NHD)点刺液进行皮肤点刺试验84例变应性鼻炎患儿进行气传变应原测试.结果 84例变应性鼻炎患儿吸入变应原测试总阳性率96.4%(81例),以藜属花粉最高70.2%(59例),蒿属植物次之42.9%(36例),其后依次为杨树27.4%(23例),榆树25.0%(21例),槭树17.8%(15例),柳树11.9%(10例),豚草(巨大豚草、普通豚草)11.9%(10例),粉螨10.7%(9例),尘螨9.5%(8例),交链孢霉8.3%(7例),特异青霉7.1%(6例),白色念珠菌4.8%(4例)等.81例对不同变应原过敏,其中42例(51.9%)患儿对2种或2种以上变应原过敏.点刺试验皮肤反应强度蒿属最明显,强阳性占蒿属过敏病人的50.0%,藜属次之,强阳性占藜属过敏病人的40.7%.结论 藜属和蒿属为新疆地区变应性鼻炎患儿最主要的变应原,在治疗过程中对这类变应性鼻炎患儿可采取有效的避、忌、替、移等措施,明确变应原后对特异性免疫治疗具有重要的指导意义.