Genetics: Genetic analysis prior to selective fetal reduction in multiple pregnancy: technical aspects and clinical outcome

Multiple pregnancies resulting from ovarian stimulation areat a higher risk of carrying at least one fetus affected byMendelian or chromosomal anomalies, the incidence of which isdirectly related to the order of multiples. Genetic analysisbefore fetal reduction was offered to both high-and low-riskpregnant women carrying two or more fetuses after ovulationinduction. Chorionic villus sampling (CVS) and fetal reductionwere achieved by transabdominal needling. The use of short-termculture, the polymerase chain reaction and fresh tissue enzymaticanalyses have made it possible for genetic diagnosis to be availablein a few days. A total of 100 patients had multifetal pregnancyreduction performed by a single operator; all of them completedpregnancy and none was lost at follow-up. The total fetal lossbefore 24 weeks was 7% and no statistically significant relationshipwas found with the final number of fetuses and CVS. Perinatallosses (3.9%) were only present in the series with a final numberof two fetuses. Pregnancy duration and birthweight were significantlyhigher in singletons than in twins, but were not related toCVS. The rate of chromosomal disorders was higher (7.2%) inthe study series than in singleton pregnancies not undergoingfetal reduction. Diagnostic error due to incorrect samplingwas reported in 1.5% of cases. These data support fetal reductionas a valuable strategy to improve the outcome of multiple pregnancy.The outcome of pregnancies reduced to singletons was significantlybetter than of those reduced to twins, and was not related toCVS. Therefore, prenatal genetic diagnosis should become anintegral part of counselling on multiple pregnancy, and is stronglyrecommended when reduction to singleton pregnancy is requested.     

Transitional progressive multiple sclerosis: MRI and MTI findings

Transitional progressive multiple sclerosis (MS) is quite an unusual form of presentation and course of the disease. A case with this progressive form is presented and brain MRI and MTI findings are discussed in relation to the possible insight they may provide for understanding the mechanisms that determine progressive disability in MS.     

肺脏在老龄大鼠多器官衰竭中的作用

目的：探讨肺脏在老龄大鼠多器官衰竭中的作用。方法：一次性静脉主射大肠杆菌内毒素，复制出老龄大鼠多器官衰竭（ＭＯＦ）实验模型。动态观察了五个时相组（１、２，６、１２，２４ｈ）的有关免疫，生化功能指标和病理变化。     

Uhthoff's symptom in multiple sclerosis

A case report is presented in which a patient's initial complaint is of blurred vision after exercise (Uhthoffs symptom). Visual acuity and colour vision were found to be reduced after exercise. Additional neurological signs included homonymous scotomata and delayed visual evoked and somatosensory responses. Magnetic resonance imaging demonstrated multiple abnormal lesions in the brain. The significance of this symptom and its relationship to multiple sclerosis are discussed.     

82例双胎妊娠及其围产儿分析

自１９８８年１月～１９９３年１２月我院共分娩１０１２４例，双胎８２例。结果表明：双胎组早产，妊高征、贫血、胎膜早破、产后出血和围产儿死亡率明显高于单胎组，为此提出：①有双胎家族史、由药物诱导排卵的孕妇、孕吐严重、先兆流产和子宫大于停经月份者应作Ｂ超检查，有助于双胎的早期诊断。②妊娠３２周以后，双胎孕妇应连续卧床休息，注意营养，治疗合并症，对减少早产、增加新生儿体重和降低围产儿死亡率有重要意义。     

天然抗氧化剂多靶点作用在防治心脑血管疾病中的研究进展

从天然抗氧化剂的多靶点作用角度阐述其防治心脑血管疾病的效应机制、研究动态，并提出存在的问题及解决思路。     

沐舒坦治疗重型颅脑损伤后肺部感染的临床分析

目的:探讨沐舒坦对重型颅脑损伤后肺部感染的治疗作用.方法:选择GCS3～8分重型颅脑损伤后肺部感染的患者90例,随机选45例(实验组)加用沐舒坦治疗,另45例(对照组)未予沐舒坦治疗。所有患者其他治疗措施均基本相同。结果:实验组有42例感染控制,感染控制时间平均(7.8±2.6)d:对照组有35例感染控制,感染控制时间平均(14.1±3.2)d。实验组肺部感染控制率显著高于对照组(P<0.05),而控制感染平均时间显著短于对照组(P<0.05)。结论:沐舒坦治疗重型颅脑损伤后肺部感染有较好的临床疗效,值得临床推广应用。     

重症肺炎患者中性粒细胞胞吐作用的改变

目的　研究重症肺炎患者中性粒细胞的功能改变。方法　采用免疫化学法测定 32例重症肺炎患者中性粒细胞胞吐作用和氧化酶反应的变化 ,并与健康对照组比较。结果　重症肺炎患者血液中性粒细胞的基础和PMA刺激的胞吐作用均明显下降 (P <0 .0 1) ;重症肺炎患者的基础和PMA刺激的反应性氧属 (ROS)产生明显增加 ;重症肺炎患者肺部中性粒细胞释放乳铁蛋白、髓过氧化物酶 (MPO)和ROS增加 ,PMA刺激后相似 ;肺炎的严重性与血液中性粒细胞释放乳铁蛋白呈负相关。结论　重症肺炎患者中性粒细胞胞吐作用明显受损 ,与预后相关。     

Evidence for a Type 1 diabetes‐specific mechanism for the insulin gene‐associated IDDM2 locus rather than a general influence on autoimmunity

Aims The Type 1 diabetes susceptibility locus, IDDM2, has been mapped to a variable number of tandem repeats (VNTR) region 5′ upstream of the insulin (INS) and insulin‐like growth factor (IGF2) genes on chromosome 11p15. The function of the VNTR is uncertain; however, it may influence the thymic expression of the insulin gene and affect the development of immune self‐tolerance. The aim of this study was to investigate whether the INS VNTR region is a Type 1 diabetes‐specific locus or acting as a general autoimmunity gene. Methods We genotyped the INS‐IGF2 VNTR [using the surrogate INS?23 HphI single nucleotide polymorphism (SNP)] in 823 Graves’ disease (GD)/multiple sclerosis (MS) families, 1433 GD/MS patients and 837 healthy control subjects. Results We found no evidence of excess transmission of the allele associated with Type 1 diabetes to individuals affected by GD or MS within the families. Analysis of the case–control dataset showed no genotypic or allelic difference between the two populations. Conclusions These data suggest that the INS‐IGF2 VNTR is acting as a Type 1 diabetes‐specific susceptibility gene rather than as an influence on general autoimmunity.     

寡克隆区带及IgG指数在多发性硬化中的临床意义

目的研究寡克隆区带（OCB）和IgG指数在多发性硬化（MS）中的临床意义。方法收集MS患者54例和其他神经系统疾病（OND）患者271例,包括中枢神经系统感染性疾病62例及非感染性疾病209例的脑脊液和血清标本,分别进行OCB检测（聚丙烯酰胺凝胶电泳）和IgG指数的计算（免疫火箭电泳法）。结果MS组OCB阳性率为35.2%;OND组为8.9%,其中感染组为24.2%,非感染组为4.5%。MS与OND组整体比较OCB阳性率有显著性差异（P〈0.05）,但与感染组相比无显著性差异（P〉0.05）。MS组IgG指数阳性率为83.3%,OND组为78.2%（P〉0.05）。结论OCB对MS有一定的辅助诊断价值,但需除外CNS感染性疾病。IgG指数阳性可作为参考。