Colon Cancer in Patients Under 25 Years Old: A Different Disease?

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三个常染色体隐性遗传早发型帕金森病家系的PARKIN基因研究

目的 探讨PARKIN基因与中国人常染色体隐性遗传早发型帕金森病（autosomal recessive early-onset Parkinson’s disease，AREP）家系的关系。方法 对3个AREP家系的6例患者和23位成员进行系统的临床检查并进行PARKIN基因PCR扩增，产物通过变性高压液相色谱（denaturing high—performance liquid chmnatogmphy，DHPLC）进行突变检测，阳性结果标本进行基因测序。结果 所有研究对象的PARKIN基因外显子均扩增成功。DHPLC检测和基因测序发现一个家系中存在PARKIN基因杂合Gly284Arg突变，另一个家系中存在PARKIN基因Ser167Asn多态性，且患者均有环境毒物接触史。结论 PARKIN基因杂合Gly284Arg突变在环境因素的协同作用下可能导致发病。PARKIN基因Ser167Asn多态性是帕金森病的易感因素，汞中毒与其共同作用可能导致发病。     

早发型重度妊高征的临床研究

目的:探讨发生在较小妊周的重度妊高征之发生率、临床特征、治疗原则、终止妊娠时机及对母婴的影响。方法:选择妊娠≤34周的重度妊高征病例45例,按治疗方式的不同分成治疗组(遵循妊高征的治疗原则,同时给予营养支持和促胎肺成熟药物)和观察组。结果:两组病例均没有孕产妇死亡和子痫发生,但合并症、并发症的发生率高达95.24％。治疗组围产儿死亡率及发病率明显低于观察组。结论:早发型重度妊高征在终止妊娠前短期的保守治疗是安全有效的,给予积极治疗能明显减少围产儿死亡率、提高生存率。     

Cost-effectiveness of maternal immunization against neonatal invasive Group B Streptococcus in the Netherlands

BackgroundNeonatal invasive Group B Streptococcus (GBS) infection causes considerable disease burden in the Netherlands. Intrapartum antibiotic prophylaxis (IAP) prevents early-onset disease (EOD), but has no effect on late-onset disease (LOD). A potential maternal GBS vaccine could prevent both EOD and LOD by conferring immunity in neonates.ObjectiveExplore under which circumstances maternal vaccination against GBS would be cost-effective as an addition to, or replacement for the current risk factor-based IAP prevention strategy in the Netherlands.MethodsWe assessed the maximum cost-effective price per dose of a trivalent (serotypes Ia, Ib, and III) and hexavalent (additional serotypes II, IV, and V) GBS vaccine in addition to, or as a replacement for IAP. To project the prevented costs and disease burden, a decision tree model was developed to reflect neonatal GBS disease and long-term health outcomes among a cohort based on 169,836 live births in the Netherlands in 2017.ResultsUnder base-case conditions, maternal immunization with a trivalent vaccine would gain 186 QALYs and prevent more than €3.1 million in health care costs when implemented in addition to IAP. Immunization implemented as a replacement for IAP would gain 88 QALYs compared to the current prevention strategy, prevent €1.5 million in health care costs, and avoid potentially ~ 30,000 IAP administrations. The base-case results correspond to a maximum price of €58 per dose (vaccine + administration costs; using a threshold of €20,000/QALY). Expanding the serotype coverage to a hexavalent vaccine would only have a limited additional impact on the cost-effectiveness in the Netherlands.ConclusionsA maternal GBS vaccine could be cost-effective when implemented in addition to the current risk factor-based IAP prevention strategy in the Netherlands. Discontinuation of IAP would save costs and prevent antibiotic use, however, is projected to lead to a lower health gain compared to vaccination in addition to IAP.     

循环胆固醇及其相关基因变异在早发型阿尔茨海默病中的作用及机制

早发型阿尔茨海默病（EOAD）是65岁之前发病的以进行性认知障碍及行为异常为特征的神经系统退行性疾病。作为常染色体显性遗传疾病，EOAD的发病机制主要与基因突变有关。研究表明胆固醇及其相关基因变异参与EOAD发病。胆固醇可能通过载脂蛋白E基因ε4等位基因（ApoE ε4）介导促进EOAD发生，也可能是EOAD独立于ApoE ε4的危险因素，具体作用机制尚不明确。对EOAD患者进行基因检测发现，与胆固醇代谢相关的载脂蛋白A1（ApoA1）基因、载脂蛋白B（ApoB）基因、载脂蛋白C1（ApoC1）基因、载脂蛋白C2（ApoC2）基因、载脂蛋白D（ApoD）基因、载脂蛋白E（ApoE）基因、三磷酸腺苷结合盒A1转运蛋白（ABCA1）基因、三磷酸腺苷结合盒A2转运蛋白（ABCA2）基因、三磷酸腺苷结合盒A7转运蛋白（ABCA7）基因、3-羟基-3-甲基戊二酸单酰辅酶A还原酶（HMGCR）基因、分拣蛋白相关受体1（SORLl）均与EOAD有关。现将胆固醇及相关基因变异在EOAD发病机制中的作用做一综述，旨在为EOAD早期诊断提供临床思路，为EOAD的治疗提供新的靶点。     

Fatal pneumonia following maternal HSV-1 viraemia in late pregnancy

Neonatal Herpes simplex virus (HSV) pneumonia without apparent accompanying disseminated infection is a rare condition. We describe a case of neonatal pneumonia following maternal HSV type 1 viraemia in late pregnancy. A review of the literature shows that cases of HSV presenting as pneumonia in the first week of life are the most severe form of neonatal HSV.     

Increased Risk for Group B Streptococcus Sepsis in Young Infants Exposed to HIV,Soweto, South Africa, 2004–2008

Although group B Streptococcus (GBS) is a leading cause of severe invasive disease in young infants worldwide, epidemiologic data and knowledge about risk factors for the disease are lacking from low- to middle-income countries. To determine the epidemiology of invasive GBS disease among young infants in a setting with high maternal HIV infection, we conducted hospital-based surveillance during 2004–2008 in Soweto, South Africa. Overall GBS incidence was 2.72 cases/1,000 live births (1.50 and 1.22, respectively, among infants with early-onset disease [EOD] and late-onset [LOD] disease). Risk for EOD and LOD was higher for HIV-exposed than HIV-unexposed infants. GBS serotypes Ia and III accounted for 84.0% of cases, and 16.9% of infected infants died. We estimate that use of trivalent GBS vaccine (serotypes Ia, Ib, and III) could prevent 2,105 invasive GBS cases and 278 deaths annually among infants in South Africa; therefore, vaccination of all pregnant women in this country should be explored.     

¿Cómo evaluar la sepsis neonatal de inicio precoz? Estudio comparativo de tres estrategias de detección

IntroductionEarly-onset neonatal sepsis can cause significant morbidity and mortality, especially if it is not detected early. Given the decrease in its incidence in the past few decades, it is important to find a balance between reducing the use of diagnostic tests and continuing to detect affected patients. We compared 3 detection strategies in patients with risk factors (RFs) for infection: laboratory screening (S1), the neonatal sepsis risk calculator (S2) and clinical observation (S3).Patients and methodsRetrospective observational study in neonates born at 34 weeks or gestation or later and with RFs or symptoms compatible with early-onset neonatal sepsis. We analysed outcomes in our unit with the use of laboratory screening (S1) and compared them with the other two strategies (S2 and S3) to contemplate whether to modify our protocol.ResultsThe study included 754 patients, and the most frequent RFs were prolonged rupture of membranes (35.5%) and maternal colonization by Streptococcus agalactiae (38.5%).Strategies S2 and S3 would decrease the performance of laboratory tests (S1, 56.8% of patients; S2, 9.9%; S3, 22.4%; P < .01), hospital admissions (S1, 11%; S2, 6.9%; S3, 7.9%; P < .01) and the use of antibiotherapy (S1, 8.6%; S2, 6.7%; S3, 6.4%; P < .01).Sepsis was diagnosed in 13 patients, and it would have been detected with S2 and S3 except in 1 patient who had asymptomatic bacteriemia by Enterococcus faecalis.No patient with mild and self-limited symptoms in whom antibiotherapy was not started received a diagnosis of sepsis later on.ConclusionsClose clinical observation seems to be a safe option and could reduce the use of diagnostic tests, hospital admission and unnecessary antibiotherapy. The watchful waiting approach in patients with mild and self-limiting symptoms in the first hours post birth does not appear to be associated with failure to identify sepsis.