Post-mortem analysis for two prevalent β-oxidation mutations in sudden infant death

BACKGROUND: Fatty acid oxidation disorders may cause sudden and unexpected infant death and are associated with the histological hallmark of hepatic steatosis. The goal of the present study was to assess the value of post-mortem molecular analysis for medium-chain acyl-coenzyme A dehydrogenase (MCAD) and mitochondrial trifunctional protein (MTP) defects in unexplained sudden infant death (SID) associated with fatty infiltration of the liver. MCAD catalyzes the first step of medium-chain fatty acid oxidation while MTP catalyzes the last three steps of long-chain fatty acid oxidation. METHODS: In a retrospective study, 220 consecutive cases of sudden and unexplained infant death certified by medical examiners at Wake Forest University Medical Center were assessed for hepatic steatosis. Subjects with evidence of hepatic steatosis were screened for mutations in MCAD and MTPalpha-subunit using DNA isolated from paraffin-embedded liver tissue, single-strand conformation variance, and nucleotide sequence analyses. RESULTS: Sixteen cases (7.3%) were associated with diffuse micro-vesicular or mixed micro- and macro-vesicular hepatic steatosis. Two of these 16 cases (12.5%) had disease-causing mutations. One was homozygous for the prevalent MCAD A985G mutation. The second was a compound heterozygous for the prevalent MTP G1528C mutation and a novel 1 bp deletion in exon 18 of the MTPalpha-subunit gene. CONCLUSIONS: A significant proportion (7.3%) of SID is associated with hepatic steatosis. The present data support post-mortem molecular analysis for the MCAD A985G and MTP G1528C prevalent mutations in cases of sudden and unexplained infant death associated with hepatic steatosis.     

An immunohistochemical study of MAP2 and clathrin in gerbil hippocampus after cerebral ischemia

Changes in MAP2 and clathrin immunoreactivity were studied in gerbil hippocampus after transient cerebral ischemia. MAP2 immuno-reactivity decreased significantly by 1 h in the subiculum-CA1 and CA2 areas which correspond to reactive change, while no decrease was observed in CA1 until day 4. Before the initiation of delayed neuronal death, MAP2 immunoreactivity was not changed in CA1. On the other hand clathrin immunoreactivity increased in the pyramidal cell layer of CA1 by 3 h after ischemia and remained high for 2 days. Clathrin immunoreactivity in the pyramidal cell layer of CA1 diminished after delayed neuronal death. The transient change of clathrin was noted especially in CA1 in the period prior to delayed neuronal death. These results imply an abnormal change in clathrin turnover after ischemia, which may participate in the pathogenesis of delayed neuronal death.     

急性心肌梗塞猝死的诱因及抢救(附13例报告)

本文报告了急性心肌梗塞猝死13例。分析猝死的诱因主要有血清钾浓度降低,严重心律失常,包括室内传导阻滞、室性并行心律、室性早搏等。近年来急性心肌梗塞的发病率日趋增高,心源性猝死也随之增多,有必要对猝死的诱因进行探讨,以采取有效的抢救措施。     

沙土鼠短暂性脑缺血后海马损伤的形态学特征

本实验通过结扎沙土鼠双侧颈总动脉20分钟,再灌流7天内,动态观察背侧海马组织的形态学变化。光镜观察表明:海马各区对缺血的反应性不同,其中以 CA_1区锥体细胞对缺血最为敏感,并且 CA_1区神经元的损伤是迟发性的,再灌流4天后才出现大量神经元的坏死、消失,即“迟发性神经元死亡”(NDN)。电镜下发现:缺血再灌流早期(1～2天),CA_1区神经细胞质内有大量粗面内质网增多。本实验结果表明:短暂性脑缺血所致的海马损伤与脑组织其他区域神经元损伤不同。     

Lethal Congenital Muscular Dystrophy with Arthrogryposis Multiplex Congenita: Three New Cases and Review of the Literature

Congenital muscular dystrophy (CMD) comprises a heterogeneous group of muscle disorders. We report on two stillborn sibs with early lethal CMD and a prematurely born boy who died within minutes after birth. The pregnancies were complicated by polyhydramnios. All presented with arthrogryposis multiplex congenita, severe muscle wasting, lung hypoplasia, and hydrops. The muscle biopsies showed fibrosis, variation in fiber size, and extensive fat replacement compatible with muscular dystrophy. Fatal CMD seems to be distinct from CMD with survival after birth and is probably autosomal recessively inherited.     

Early separation and suicidal behaviour in the parental homes of 40 consecutive suicide attempters

Forty suicide-attempt patients who were consecutively admitted to an intensive-care unit, their significant others and treatment personnel were investigated by semistructured interviews. The patients were divided into neurosis (n = 14), abuse (n = 19) and psychosis (n = 7) groups. Twenty-one of the patients (52%) had lost contact with one or both parents before the age of 18, in 25% of cases owing to death and in 27% because of the parents' divorce or separation. Parents and/or siblings of 19 patients (47%) had shown suicidal behaviour in the form of attempted suicide and/or suicide. Differences between the groups were not significant. Alcohol abuse in the parental home was overrepresented in the abuse group compared with the other groups. The role of identification with the dead and suicidal parent in prompting suicidal actions in adulthood is discussed, as well as that of the impeded evolution of stable external object relations owing to parental losses.     

149例围产儿死亡原因分析

目的：探讨围产儿死亡原因及降低围产儿死亡率的措施。方法：对1994年1月－2001年12月在我院住院分娩的149例死亡围产儿的临床资料进行回顾性分析。结果：围产儿死亡率为22．74‰，死胎率为9．77‰，死产率为3．36‰，早期新生儿死亡率为9．62‰，占42．28％。围产儿死亡原因：缺氧占47．65％，早产占21．15％，出生缺陷占12．08％。结论：加强孕期保健、规范系统产前检查及监护、积极预防治疗妊娠并发症、防治早产、实施正确的新生儿窒息复苏方法、建立NICU等是降低围产儿死亡率的重要环节。     

1600例住院病人死亡原因分析

[目的 ]探讨 160 0例住院病人的死亡原因及其分布特征 .[方法 ]收集 1995年 1月至 2 0 0 2年12月间 160 0例我院住院死亡病人资料 ,对死亡疾病构成比率、男女主要疾病死亡构成比率、汉族和朝鲜族主要疾病死亡构成比率及年龄构成比率进行统计 .[结果 ] 160 0例死亡病例的死亡原因中脑血管疾病占 2 4 9% ,恶性肿瘤占 2 3 4% ,消化系统疾病占 13 7% ,意外伤害和中毒占 10 3 % ,心血管疾病占9 2 % ;男性与女性主要疾病死亡分布不同 ,两者间有非常显者性差异 ;汉族与朝鲜族主要疾病死亡分布不同 ,两者间亦有非常显者性差异 ;年龄构成比中 61～ 70岁居首位 ,占 2 6 6% ,51～ 60岁占 18 0 % ,41～ 50岁占 16 8% ,71～ 80岁占 15 8% ,3 1～ 40岁占 10 8% .[结论 ]住院死亡的疾病构成因性别及民族不同 ,其分布不同     

肝外胆管癌的诊治分析

目的：探讨肝外胆管癌的诊断和治疗的体会。方法：回顾性总结手术治疗的32例肝外胆管癌的临床资料、手术方式、手术并发症及生存率，并复习相关文献资料。结果：本组病例获根冶性切除14例，姑息切除2例，胆道引流术16例；手术并发症10例(31.3％)，手术死亡1例(3．1％)。其中22例获定期随访，存活一年以上的有12例(12／22)，至今存活8例。结论:早期诊断、正确的评估、合理的术式选择能提高疗效。降低手术并发症及死亡率。