A case of sudden cardiac death due to mitochondrial disease

A 25-year-old, emaciated man without medical treatment was found to have died suddenly at home by his mother. At autopsy, there were no injuries to his body, but significant circulatory insufficiency was observed. Electron microscopy revealed abnormal mitochondria in cells of the cardiac conduction system. The conduction system was filled with mitochondrial size abnormalities and mitochondrial cristae abnormalities. No notable abnormal findings were observed in other organs. Genetic examination of the blood revealed the mitochondrial pathogenetic variant m.3243A>G. Epileptic seizures, diabetic ketoacidosis, and hyperosmolar hyperglycemic state were unlikely to be the cause of sudden death. The cause of death was diagnosed as arrhythmia possibly induced by the failure of the cardiac conduction system due to mitochondrial disease. This is a rare case of sudden death caused by an accumulation of abnormal mitochondria in the cardiac conduction system.     

A systematic scoping review of environmental health conditions and hygiene behaviors in homeless shelters

Background

There are well-established relationships between health and homelessness, and shelters can facilitate the transmission of diseases and contribute to their prevention. Adequate environmental health conditions and hygiene behaviors in homeless shelters are fundamental to the health of their clients, a marginalized population. We report the status of environmental health conditions and hygiene behaviors in homeless shelters and associated health outcomes; interventions to improve these conditions, behaviors, and outcomes; and obstacles to improvement.

Impact des troubles orthopédiques sur la ventilation du sujet IMC/polyhandicapé

Cerebral Palsy motor disorder triggers orthopedic complications. These complications do develop by themselves and gradually degrade the motor function. The functioning of the ventilatory pump is no exception to this process. Other orthopedic impairments are impacting more indirectly ventilation. Some orthopedic treatments used for PC people are likely to worsen this clinical situation, temporarily or more permanently. Any therapeutic intervention must include two essential points: acting previously to realign posture and considering interactions of treatments on different functions.     

Impact of bystander-performed ventilation on functional outcomes after cardiac arrest and factors associated with ventilation-only cardiopulmonary resuscitation: A large observational study

AimTo determine the effectiveness of ventilations in bystander cardiopulmonary resuscitation (BCPR) and to identify the factors associated with ventilation-only BCPR.MethodsFrom out-of-hospital cardiac arrest (OHCA) data prospectively collected from 2005 to 2011 in Japan, we extracted data for 210,134 bystander-witnessed OHCAs with complete datasets but no prehospital involvement of physician [no BCPR, 115,733; ventilation-only, 2093; compression-only, 61,075; and conventional (compressions+ventilations) BCPR, 31,233] and determined the factors associated with 1-month neurologically favourable survival using simple and multivariable logistic regression analyses. In 91,885 patients with known BCPR durations, we determined the factors associated with ventilation-only BCPR.ResultsThe rate of survival in the no BCPR, ventilation-only, compression-only and conventional group was 2.8%, 3.9%, 4.5% and 5.0%, respectively. After adjustment for other factors associated with outcomes, the survival rate in the ventilation-only group was higher than that in the no BCPR group (adjusted OR; 95% CI, 1.29; 1.01–1.63), but lower than that in the compression-only (0.76; 0.59–0.96) or conventional groups (0.70; 0.55–0.89). Conventional CPR had the highest OR for survival in almost all OHCA subgroups. The adjusted OR (95% CI) for survival after dividing BCPR into ventilation and compression components was 1.19 (1.11–1.27) and 1.60 (1.51–1.69), respectively. Older guidelines, female sex, younger patient age, bystander-initiated CPR without instruction, early BCPR and short BCPR duration were associated with ventilation-only BCPR.ConclusionsVentilation is a significant component of BCPR, but alone is less effective than compression in improving neurologically favourable survival after OHCAs.     

m6A结合蛋白IGF2BP1在肝细胞癌中的基因调控网络分析

目的 分析m6A阅读器胰岛素样生长因子2-mRNA结合蛋白1（insulin-like growth factor 2 mRNA-binding protein 1，IGF2BP1）在肝细胞癌（hepatocellular carcinoma，HCC）中的表达水平及其对HCC患者预后的影响，并探讨IGF2BP1在HCC发生发展中的作用及其潜在机制。方法 基于5对HCC癌及相应癌旁组织mRNA-seq数据和TCGA数据库LIHC的mRNA-seq数据综合分析IGF2BP1在HCC中的表达情况，同时利用TCGA数据库中343例HCC患者的临床随访资料分析IGF2BP1表达水平对HCC患者总生存期的影响。基于TCGA数据库筛选IGF2BP1的共表达mRNA，并利用m6Avar在线网站预测mRNA的m6A位点及其RNA结合蛋白等信息，最终构建IGF2BP1的基因调控网络。结果 IGF2BP1基因在HCC中表达上调（log2FC HCC转录组数据=10.684，P<0.001；log2FC TCGA-LIHC数据集=7.032，P<0.001）。生存分析显示IGF2BP1低表达的HCC患者中位生存时间为5.84年，IGF2BP1高表达患者为4.44年，高表达患者总生存期缩短（P=0.011）。22个差异表达的mRNA与IGF2BP1存在靶向结合关系，并与其表达水平呈正相关。其中，HMGA2等15个高表达mRNA的HCC患者总生存期缩短。HMGA2、PEG10、CEP55、RHO、CDC6和KIF23基因中的潜在m6A甲基化位点位于mRNA 3'UTR端的miRNA结合区域。结论 IGF2BP1在HCC中高表达且导致患者总生存期缩短。IGF2BP1可能通过m6A甲基化及miRNA抑制作用的方式上调mRNA的表达，促进HCC发生并导致不良预后。     

Same-Day Repeat Hepatopulmonary Shunt Measurement during Planning Angiography for Hepatic Radioembolization

This report describes a technique for measuring lung shunt fraction (LSF) twice in a single session during planning arteriography for radioembolization using low and standard dose technetium-99m macroaggregated albumin (^99mTc-MAA). A patient with a 16.0 cm hepatocellular carcinoma and LSF of 70% was treated with lenvatinib for 4 weeks. Planning arteriography with administration of 0.5 millicuries of ^99mTc-MAA was then performed. Arterial access was maintained while the LSF was calculated, which was persistently elevated at 54%. Embolization of arteriovenous shunts was performed during the same session and 5.0 millicuries of ^99mTc-MAA were administered. The repeat LSF was 29%. Successful radioembolization was subsequently performed.     

一次性湿热交换器在新生儿机械通气长途转运中应用的效果分析

目的探讨研究一次性湿热交换器在新生儿机械通气长途转运中应用的临床意义。方法 2017年1月-2017年12月,我院120转运中心长途转运接收786例机械通气新生儿,786例患儿随机分为常规气道护理(对照组)和转运途中应用一次性湿热交换器组(治疗组),对比转运过程中的吸痰次数、肉眼可见痰痂形成率、堵管发生率、脱管发生率、人机对抗发生率。结果研究数据显示治疗组吸痰次数、肉眼可见痰痂形成率、堵管发生率、脱管发生率、人机对抗发生率有显著性差异(P<0.05)明显低于对照组。结论在机械通气新生儿长途转运中,一次性湿热交换器的可减少转运患儿吸痰次数发生率、降低肉眼可见痰痂形成率、堵管发生率、脱管发生率、人机对抗发生率具有明显优越性,值得推广。