肺栓塞孕产妇死亡病例56例临床分析

[目的]探讨孕产妇发生肺栓塞的诱因、诊治和预防。[方法]回顾性分析湖南省2006年10月1日至2012年9月30日56例因肺栓塞引起的孕产妇死亡病例资料。[结果]因肺栓塞所致孕产妇死亡人数占孕产妇死亡总数的4．71％（56/1190）;发生在产前7例,产时2例,产后43例。另外,发生在宫腔镜下清宫术中2例,剖宫流产术中1例,早孕人流术后1例。其中24例发生在产后48 h内,占产后死亡总数的55．8％（24/43）;产时及产后死亡病例中剖宫产39例,阴道产6例;依据临床表现联合C T 诊断肺栓塞4例,尸检确诊1例,余均依据临床表现死后推断;在抢救措施方面,仅3例给予了抗凝治疗。[结论]重视孕妇肺栓塞高危因素的筛查,严格控制剖宫产指征,规范肺栓塞的诊断并掌握急救方法,重视深静脉血栓的预防和筛查,是预防和降低因肺栓塞所致孕产妇死亡的关键。     

Advantages and disadvantages of an objective selection process for early intervention in employees at risk for sickness absence

Background  

It is unclear if objective selection of employees, for an intervention to prevent sickness absence, is more effective than subjective 'personal enlistment'. We hypothesize that objectively selected employees are 'at risk' for sickness absence and eligible to participate in the intervention program.     

体外循环术中去白细胞常温血心脏停搏液灌注对心肌的保护作用

目的 :研究体外循环术中去白细胞常温血心脏停搏液微流量连续灌注对心肌的保护作用。方法 :临床随机选择主动脉 (AO)阻断时间在 60min以上的心脏瓣膜置换患者 2 0例。随机分为试验组和对照组 ,每组 1 0例 ,检测术中不同时间点脂肪酸结合蛋白 (HH FABP)水平和右心房心肌内髓过氧化物酶 (MPO)含量。结果 :①试验组AO开放后 2 0min ,40min ,60min血清HH FABP均较AO阻断前及开放即刻升高 (P <0 .0 1或P <0 .0 5) ,且含量均明显低于对照组 (P <0 .0 1 )。②试验组AO开放即刻及开放后 2 0min心房心肌内MPO与阻断前相比无明显增加 ,而对照组与阻断前相比明显增加 (P <0 .0 1 ) ,2组之间比较 ,差异有统计学意义 (P <0 .0 1 )。HH FABP与AO阻断时间呈正相关 ,试验组r=0 .962 4 ,P <0 .0 1 ,对照组r=0 .70 31 ,P <0 .0 5。结论 :去白细胞常温血心脏停搏液微流量连续灌注可减轻心肌缺血 再灌损伤 ,有利于心肌保护     

Cardiac manifestations of inherited metabolic disease in children

Inborn errors of metabolism (IEM) are responsible for around 5% of all cases of cardiomyopathy (CM) and for 15% of non‐idiopathic cases. Storage disorders such as Pompe disease (glycogen storage disease type II) typically cause hypertrophic CM, whereas the accumulation of toxic metabolites, as seen in the organic acidurias, is associated with dilated cardiomyopathy (DCM). Mixed pathology is also possible, particularly in late presentations. IEM such as Barth syndrome, a disorder of cardiolipin stability usually associated with DCM, have been associated with rarer types of CM such as endocardial fibroelastosis and left ventricular non‐compaction. Conduction disturbances can also occur, particularly in disorders of glycogen metabolism associated with PRKAG2 mutations. Cardiac screening of patients with metabolic diseases is important to guide treatment and stratify risk. Supportive cardiac treatment may be required, and although associated myocardial disease may improve or even resolve with correction of the underlying metabolic disturbance, progression to cardiac transplantation has been described. In this article we document all IEM known to be associated with cardiac disease in children, focusing on common and clinically important diagnoses. We also discuss the pathophysiology of the various types of CM, and present a recommended approach to screening in the pediatric population.     

脱中性粒细胞温血心脏停搏液连续灌注在心脏手术中心肌保护的研究

目的 :研究体外循环期间常温血脱中性粒细胞心脏停搏液微流量连续灌注对心脏瓣膜置换术中心肌的保护作用。方法 :临床随机选取体外循环时间在 60min以上的风湿性心脏瓣膜病人 2 0例 ,随机分为实验组和对照组 (每组 10例 ) ,分别检测不同时间点血浆心肌肌钙蛋白I(cTnI)水平和血浆MDA水平的变化。结果 :①两组病人在CPB前cTnI含量组间差异无显著性 ,而在主动脉阻断后及主动脉开放后各时间点差异显著 ,对照组cTnI值高于实验组 (P <0 .0 5 ) ;②两组病人在体外循环前及主动脉阻断 3 0min时MDA的含量组间差异无显著性 ,而在主动脉开放各时间点组间差异具有显著性 (P <0 .0 5 ) ,对照组高于实验组。结论 :实验研究证实 ,脱除心脏停搏液中的中性粒细胞后 ,可减轻中性粒细胞介导的心肌损伤 ,有利于心肌保护     

Incest diagnosis by comparison of alleles of mother and offspring at highly heterozygous loci

BACKGROUND: Methods that detect a child's homozygosity by examination of allelic products are insensitive for diagnosing incest because, at a given locus, a homozygous state is expected with a frequency of only 0.25 when parents are first-degree relatives. Furthermore, these methods are not specific if the population contains many homozygous individuals or silent alleles that cause apparent homozygosity. STUDY DESIGN AND METHODS: Use of highly heterozygous loci improves specificity, but not sensitivity. Sensitivity may be increased by observing for two kinds of mother-offspring similarities: an offspring of incest tends to be homozygous or heterozygous-identical with respect to its mother's phenotype. At each locus, two conditional probabilities may be calculated for a genetic observation, using allele frequencies expected under a state of incestuous mating versus mating within a specified population. The conditional probabilities at each locus are compared in a likelihood ratio to express a relative probability of incest. RESULTS: In a case of known sibling incest, three likelihood ratios were derived from variable number of tandem repeat phenotypes at five loci. When only offspring homozygosity was observed, the likelihood ratio was 75.3:1. When both homozygous- and heterozygous- identical phenotype similarities of offspring and mother were noted, the likelihood ratio was 130.4:1. When maternal obligatory alleles of the offspring were considered, the likelihood ratio was 262.4:1. CONCLUSION: Comparison of maternal and offspring phenotypes at highly heterozygous loci increases both sensitivity and specificity of genetic tests in cases of suspected incest.     

Immunogenetic control of antibody responsiveness in a malaria endemic area

This study builds upon the established genetic control of antimalarial immune responses and prior association studies by using a family-based approach, transmission disequilibrium testing, to identify immune response genes that influence antibody responses to Plasmodium falciparum infection in an endemic Tanzanian population. Candidate polymorphisms are within the interleukin-1 (IL-1) gene cluster, the IL-10 promoter, Major histocompatibility complex class II and III, the 5q31-q33 region, and the T-Cell Receptor beta variable region. There was a significant association between the IL1RN alleles and total IgE. Weak evidence for association was present between polymorphisms in the IL10 promoter region and both anti-P falciparum IgE and IgG4 antibodies.     

Molecular analysis of chromosome 20q deletions associated with myeloproliferative disorders and myelodysplastic syndromes

Acquired deletions of the long arm of chromosome 20 are found in several hematologic conditions and particularly in the myeloproliferative disorders and myelodysplastic syndromes. The spectrum of diseases associated with 20q deletions suggests that such deletions may mark the site of a tumor suppressor gene that contributes to the regulation of normal multipotent hematopoietic progenitors. We present here the first detailed molecular analysis of 20q deletions associated with myeloid disorders. Thirty-four microsatellite primer pairs corresponding to loci on 20q have been used to study DNA samples from two cell lines and from highly purified peripheral blood granulocytes obtained from seven patients. In addition, Southern analysis of cell line DNA has been performed using 19 DNA probes that map to 20q. Three conclusions can be drawn from our results. Firstly, molecular heterogeneity of both centromeric and telomeric breakpoints was demonstrated, thus supporting the existence of a tumor suppressor gene on 20q. In addition many of the breakpoints have been mapped to small genetic intervals. Secondly, our results define a commonly deleted region of 16-21 cM which contains ADA, PLC1, TOP1, SEMG1, and PPGB. Several candidate tumor suppressor genes lie outside the common deleted region including SRC, HCK, p107, PTPN1, and CEBP beta. Thirdly, the data allow integration of genetic and physical maps and have refined the map positions of multiple genes. These results will facilitate attempts to identify candidate hematopoietic tumor suppressor genes on 20q.