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.     

多层螺旋CT对继发性附件扭转的综合评估

目的探讨继发性附件扭转的CT特征及其诊断效能,构建继发性附件扭转的评分系统。资料与方法收集经手术证实的伴有附件肿物的继发性附件扭转患者37例,以及伴有腹痛、附件肿物的对照组患者34例,分析继发性附件扭转的CT特征,采用受试者工作特征(ROC)曲线评价其诊断效能,构建继发性附件扭转的综合评分系统(AT-CI)。结果与对照组比较,继发性附件扭转以下CT特征发生率较高,包括肿物壁偏心性增厚(X^2=4.41,P<0.05)、附件出血(X^2=12.68,P<0.001)、肿物-子宫之间团块状结构(X^2=13.62,P<0.001)、旋涡征(X^2=10.71,P<0.05)、附件周围脂肪模糊/腹水(X^2=5.82,P<0.05)。其中肿物-子宫之间团块状结构敏感度及诊断价值最高,为81.1%(ROC曲线下面积0.71),旋涡征特异度最高,为91.2%。ATCI诊断效能优于任意单一CT特征(ROC曲线下面积0.83),评分0~2分继发性附件扭转可能性小,3~4分怀疑继发性附件扭转,评分>4分,则高度怀疑继发性附件扭转且特异度为100%。结论继发性附件扭转具有典型的CT特征,包括肿物壁偏心性增厚、附件出血、肿物-子宫之间团块状结构、旋涡征、肿物周围脂肪模糊/腹水。AT-CI是综合了继发性附件扭转全部CT特征的实用评分系统,提高了继发性附件扭转的诊断准确性。     

精囊镜技术治疗血精症的临床效果评估

目的评价经自然腔道精囊镜技术治疗血精症的临床效果。方法以广东省江门市中心医院2015年3月-2019年8月收治的20例难治性血精症或保守治疗失败的血精症患者为研究对象,随机分成观察组和对照组各10例,观察组使用自然腔道精囊镜技术,对照组使用破窗法精囊镜技术,比较两组患者的治疗效果。结果观察组患者的治疗有效率为90.00%,高于对照组的70.00%,差异有统计学意义(P<0.05)。观察组并发症发生率为20.00%,对照组为10.00%,两组差异无统计学意义(P>0.05)。结论经自然腔道精囊镜技术治疗血精症具有更好的疗效,且并发症发生率与破窗法无明显差异,提示经自然腔道精囊镜技术更加安全有效,值得临床推广应用。     

Diagnostic and Prognostic Value of Ergonovine Echocardiography for Noninvasive Diagnosis of Coronary Vasospasm

ObjectivesThis study sought to obtain large-scale evidence supporting the clinical usefulness of ergonovine echocardiography.BackgroundThe role of noninvasive ergonovine provocation testing with echocardiographic monitoring of ventricular wall motion (ergonovine echocardiography) needs to be defined.MethodsClinical data of patients who underwent ergonovine echocardiography in 3 tertiary referral hospitals in South Korea were analyzed.ResultsErgonovine echocardiography was performed in 14,012 patients (mean age 52.8 ± 11.1 years; 6,213 [44.3%] women) after exclusion of significant coronary arterial stenosis by functional (treadmill or perfusion scan, n = 9,824) or anatomic test (invasive or computerized tomographic coronary angiography, n = 4,188). Premature termination developed in 0.4% (n = 51), and a positive result was observed in 2,144 patients (15.3%), with variable frequencies according to the diagnosis (acute coronary syndrome [38.2%], variant angina [31.8%], effort angina [14.9%], aborted sudden cardiac death [17.6%], syncope [9.9%]). There was no mortality or development of myocardial infarction during the test. During median follow-up of 11.4 (interquartile range: 7.2 to 15.8) years, death of any cause and cardiovascular death occurred in 494 and 143 patients, respectively. The 10-year overall (96.7 ± 0.2% vs. 91.5 ± 0.6%; p < 0.0001) and cardiovascular mortality–free (99.2 ± 0.1% vs. 96.7 ± 0.4%; p < 0.0001) survival rates were lower in patients with positive ergonovine echocardiography. Regarding patients with positive test results, the functional test group and the anatomic test group did not show a significant difference in the survival rates. After adjustment of age and male sex, a positive test was an independent risk factor associated with all-cause mortality (hazard ratio: 1.879, 95% confidence interval: 1.548 to 2.280; p < 0.001) and cardiovascular death (hazard ratio: 2.903, 95% confidence interval: 2.061 to 4.089; p < 0.001).ConclusionsErgonovine echocardiography for coronary vasospasm diagnosis could be safely performed even without angiographic documentation of fixed coronary stenosis depending on the clinical presentation, and provided important prognostic implication. Ergonovine echocardiography can replace the invasive spasm provocation testing, which has been overlooked unfairly.     

出生后24h凝血功能异常新生儿临床表现及影响因素分析

目的分析出生后24 h凝血功能异常新生儿的临床表现及影响因素。方法收集169例住院新生儿的凝血功能检查结果及临床资料,其中符合接受抗凝治疗的患儿共76例,另93例新生儿作为对照,分析凝血功能异常组与对照组凝血功能的差异,并分析凝血障碍相关危险因素。结果凝血功能异常组的宫内窘迫、肺炎、酸中毒及低体温的比例均高于对照组,差异均有统计学意义(χ2=6.18~38.01,P0.05)。多元logistic回归分析显示,宫内窘迫(OR=12.06,95%CI:3.71~39.25)、肺炎(OR=4.10,95%CI:1.43~11.74)为新生儿凝血功能异常发生的独立危险因素(P均0.05)。结论宫内窘迫、肺炎是新生儿凝血功能异常的危险因素,提前预防有助于减少新生儿出血性疾病的发生。     

慢性硬膜下血肿并发行为异常的影响因素分析

目的研究慢性硬膜下血肿并发行为异常的影响因素。方法回顾性连续纳入2009年1月至2019年10月四川省德阳市人民医院收治的慢性硬膜下血肿207例,将所有患者依据是否并发行为异常分为行为异常组及非行为异常组。收集患者一般人口学资料如性别、年龄及病史(如外伤史、吸烟史、饮酒史、脑血管病史、高血压病史、糖尿病史、血脂异常病史、凝血异常史),记录患者入院时格拉斯哥昏迷量表(GCS)评分,收集入院时CT及脑CT灌注等影像学资料,包括血肿量、血肿部位、血肿密度、CT中线移位、镰下疝、脑灌注缺损等资料。由专业的心身医学科医师进行精神检查,并进行汉密尔顿抑郁量表(HAMD)、修订韦氏成人记忆量表(WMS-RC)及力量表(WAIS-RC)测试。以HAMD评分>7分为抑郁状态,记忆商及总智商<79分作为记忆障碍和智能障碍的判断标准。采用Logistic回归分析影响慢性硬膜下血肿并发行为异常的独立危险因素。结果慢性硬膜下血肿患者并发行为异常的发生率为73.43%(152/207)。单因素分析结果显示,两组慢性硬膜下血肿患者在性别、年龄、凝血异常史方面差异无统计学意义(均P>0.05);两组患者在外伤史(χ^2=8.763)、吸烟史≥10年(χ^2=11.491)、饮酒史≥10年(χ^2=14.365)、脑血管病史(χ^2=11.492)、高血压病史≥10年(χ^2=13.057)、糖尿病史≥10年(χ^2=9.534)、血脂异常病史(χ^2=13.274)、病程≥3个月(χ^2=7.731)、血肿量≥30 ml(χ^2=12.763)、额颞部血肿(χ^2=21.458)、混杂密度血肿(χ^2=8.736)、CT中线移位≥5 mm(χ^2=14.572)、镰下疝(χ^2=10.396)、GCS<8分(χ^2=7.216)、额颞叶脑灌注缺损(χ^2=6.781)方面比较,差异均有统计学意义(均P<0.05)。Logistic回归分析结果显示,外伤史(OR=2.164,95%CI:1.083~2.934)、吸烟史≥10年(OR=2.346,95%CI:1.191~2.835)、饮酒史≥10年(OR=2.941,95%CI:1.284~3.157)、脑血管病史(OR=3.178,95%CI:1.893~4.597)、高血压病史≥10年(OR=2.783,95%CI:1.231~2.957)、糖尿病史≥10年(OR=2.841,95%CI:1.309~3.637)、有血脂异常病史(OR=3.237,95%CI:1.794~5.124)、病程≥3个月(OR=3.957,95%CI:1.997~5.463)、血肿量≥30 ml(OR=4.875,95%CI:1.982~5.875)、额颞部血肿(OR=4.763,95%CI:1.898~5.968)、混杂密度血肿(OR=4.537,95%CI:1.795~5.362)、CT中线移位≥5 mm(OR=4.876,95%CI:1.897~5.985)、并发镰下疝(OR=4.495,95%CI:1.754~5.247)、GCS<8分(OR=4.875,95%CI:1.897~5.876)、额颞叶脑灌注缺损(OR=4.237,95%CI:1.651~4.896)是影响慢性硬膜下血肿患者并发行为异常的独立危险因素。结论慢性硬膜下血肿并发行为异常受外伤史、吸烟史、饮酒史、脑血管病史、高血压病史、糖尿病史、高血脂病史、病程、血肿量、血肿部位、血肿密度、CT中线移位、镰下疝、GCS、脑灌注等因素影响,有针对性给予干预可能有效降低慢性硬膜下血肿发生行为异常的发生率。