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.     

COX20基因变异线粒体复合物Ⅳ缺乏症相关的遗传性周围神经病4例病例系列报告及文献复习

背景：原发性线粒体病具有高度的临床和遗传异质性，其中周围神经是线粒体病的常见受累器官之一。 目的：总结COX20基因变异相关周围神经病的临床表型及遗传学特征。 设计：病例系列报告。 方法：回顾性收集2018年5月至2020年5月复旦大学附属儿科医院诊治的COX20基因变异相关周围神经病患儿的临床资料，总结其临床表现、基因检测结果及治疗效果，并以“COX20”、“线粒体复合物Ⅳ缺乏症（Complex Ⅳ deficiency）”为关键词检索中英文数据库。检索时间均为从建库至2021年12月。总结已报道COX20基因变异与临床表型的关系。 主要结局指标：临床表型和COX20基因变异位点。 结果：4例患儿纳入分析，男、女各2例，其中3例自幼运动发育落后。4例均在儿童期起病，均以行走不稳为首发症状。肌电图均提示多发性周围神经损害改变，感觉神经轴索受累为主。4例患儿均携带COX20基因复合杂合变异，包括错义变异2个，无义变异和移码变异各1个，其中移码变异c.262delG(p.E88Kfs*35)尚未见报道。文献复习目前共报道COX基因变异18个家系22例患儿（包括本文病例）,起病中位年龄为5（1.0~17）岁，22例均以行走困难或步态不稳起病，11例（50.0%）有精神运动发育迟滞，病程中14例(63.6%)出现构音障碍，14例(63.6%)出现肌力下降和/或足部畸形，8例（36.4%）出现共济失调，6例(27.3%)出现肌张力障碍，5例（22.7%）存在认知倒退等。21例患儿行神经传导及肌电图检查，19例(90.5%)提示多发性周围神经病变。头颅（18例）及脊髓（10例）MR检查提示，脊髓萎缩4例（40%），小脑萎缩4例（22.2%）。9例患儿已无法独立行走，丧失独立行走能力中位年龄为10（7~21）岁。目前共报道9个变异位点，4种变异类型，其中错义变异5个，剪切变异2个，无义变异和移码变异各1个。 结论：COX20基因变异患者多早期起病，以周围神经系统病变为主要表现，可合并构音障碍、共济失调、肌张力障碍、认知倒退等，病情逐渐进展，致残率高。COX20基因变异类型以错义变异最常见。     

Recognition and management of phaeochromocytoma

Phaeochromocytomas and paragangliomas (PPGL) are catecholamine-secreting neuroendocrine tumours. These tumours may be identified incidentally, as part of a work-up for multiple endocrine neoplasia or following haemodynamic surges during unrelated procedures. Advances in preoperative management and improved management of intraoperative haemodynamic instability have significantly reduced surgical mortality from around 40% to less than 3%. Surgery is the definitive treatment in most cases and laparoscopic resection where possible is associated with improved outcomes. Anaesthetic management of PPGL cases represents a unique haemodynamic challenge both before, during and after tumour resection. In this article we describe the physiology of these tumours, their diagnosis, preoperative optimization methods, intraoperative anaesthetic management and management of postoperative complications.     

A modality-specific somatosensory evoked potential test protocol for clinical evaluation: A feasibility study

ObjectiveWe aimed to establish an objective neurophysiological test protocol that can be used to assess the somatosensory nervous system.MethodsIn order to assess most fiber subtypes of the somatosensory nervous system, repetitive stimuli of seven different modalities (touch, vibration, pinprick, cold, contact heat, laser, and warmth) were synchronized with the electroencephalogram (EEG) and applied on the cheek and dorsum of the hand and dorsum of the foot in 21 healthy subjects and three polyneuropathy (PNP) patients. Latencies and amplitudes of the modalities were assessed and compared. Patients received quantitative sensory testing (QST) as reference.ResultsWe found reproducible evoked potentials recordings for touch, vibration, pinprick, contact-heat, and laser stimuli. The recording of warm-evoked potentials was challenging in young healthy subjects and not applicable in patients. Latencies were shortest within Aβ-fiber-mediated signals and longest within C-fibers. The test protocol detected function loss within the Aβ-fiber and Aδ-fiber-range in PNP patients. This function loss corresponded with QST findings.ConclusionIn this pilot study, we developed a neurophysiological test protocol that can specifically assess most of the somatosensory modalities. Despite technical challenges, initial patient data appear promising regarding a possible future clinical application.SignificanceEstablished and custom-made stimulators were combined to assess different fiber subtypes of the somatosensory nervous system using modality-specific evoked potentials.     

改良大骨瓣联合软通道微创介入逐渐减压术治疗重型颅脑损伤的疗效分析

目的：探讨改良大骨瓣联合软通道微创介入逐渐减压术治疗重型颅脑损伤的疗效。方法方便选择自2009年12月—2014年11月该院收治的重型颅脑损伤病例70例,随机分为改良组和对照组2组,每组35例,改良组施行改良大骨瓣联合软通道微创介入逐渐减压术,对照组按标准大骨瓣开颅、硬脑膜一次性全切开,对比分析两组的并发症发生率及预后。结果改良组发生迟发性颅内血肿、大面积脑梗塞及弥漫性脑肿胀等并发症9例(25.7％,9/35),预后良好者23例(65.7％,23/35),对照组发生并发症19例(54.3％,19/35),预后良好者14例(40.0％,14/35),两组并发症发生率和预后差异具有统计学意义(P<0.05)。结论改良大骨瓣联合软通道微创介入逐渐减压术治疗重型颅脑损伤,效果良好,显著降低死亡率。     

高压氧治疗对局灶性脑梗死大鼠的神经保护作用

目的 观察单次9 h高压氧（hyp erbaric oxygen，HBO）治疗对局灶性脑梗死大鼠凋亡诱导因子 （apoptosis-inducing factor，AIF）、线粒体膜电位（mitochondrial membrane potential，MMPo）的影响，探讨 HBO治疗的神经保护作用。 方法 108只SD大鼠制作永久性大脑中动脉闭塞模型，随机分为对照组和HBO组，每组各54只。造 模成功3 h后，HBO组实行HBO干预，压力0.2 MPa持续9 h，对照组呼吸常压空气。采用Garcia评分评估 大鼠神经功能，比较两组造模后13 h、24 h和72 h神经功能改善情况，并在各时间点检测大鼠缺血半 暗带脑组织凋亡细胞数、线粒体和细胞核AIF表达及MMPo水平。 结果 ①神经功能评分：HBO组13 h（P <0.001）、24 h（P =0.04）神经功能评分改善比对照组更明显。 ②凋亡细胞数：HBO组13 h、24 h凋亡细胞数较对照组更少（均P <0.001）。③AIF在线粒体和细胞核的 表达：13 h、24 h、72 h各时间点HBO组AI F在线粒体的表达均较对照组多（均P <0.001）；各时间点HBO 组AIF在细胞核的表达均较对照组少（均P <0.001）。④MMPo：各时间点HBO组MMPo均高于对照组（均 P <0.001）。 结论 HBO治疗可改善大鼠神经功能，稳定MMPo，抑制AIF由线粒体向细胞核转移可能是其神经保 护作用的机制之一。     

预防性静滴钾离子、镁离子对急性心梗后并发室性心律失常的预防作用

目的 探究预防性静滴钾离子、镁离子对急性心梗后并发室性心律失常的预防作用。方法 选择2015年1月-2018年1月于西宁市第一人民医院进行治疗的78例急性心肌梗死患者为研究对象，按照随机数字表法将其均分为观察组与对照组，每组各39例患者。对照组患者进行常规急性心梗治疗，观察组患者在对照组基础上加用门冬氨酸钾镁进行治疗，对比两组治疗有效率，对比两组治疗前后血液流变学指标纤维蛋白原（Fib）、凝血酶原时间（PT）、血小板计数（Plt），对比两组治疗期间不良反应发生率及心律失常发生率。结果 治疗后，观察组患者治疗有效率为87.18%，对照组为76.92%，两组对比差异具有统计学意义（P<0.05）。治疗前两组患者Fib、PT以及Plt水平对比差异不具有统计学意义；治疗后，两组患者Plt及Fib水平低于治疗前，PT水平高于治疗前，差异有统计学意义（P<0.05）；治疗后观察组患者Plt及Fib水平低于对照组，PT水平高于对照组（P<0.05）。观察组患者不良反应发生率稍高于对照组，但对比差异不具有统计学意义。观察组心律失常发生率为7.69%，对照组为15.38%，两组对比差异具有统计学意义（P<0.05）。结论 预防性静滴钾离子与镁离子能够显著降低急性心梗患者心律失常发生率，同时有利于提高治疗有效率，改善其血流变指标，且安全性较高。     

Cerebrovascular and neurological perspectives on adrenoceptor and calcium channel modulating pharmacotherapies

Adrenoceptor and calcium channel modulating medications are widely used in clinical practice for acute neurological and systemic conditions. It is generally assumed that the cerebrovascular effects of these drugs mirror that of their systemic effects – and this is reflected in how these medications are currently used in clinical practice. However, recent research suggests that there are distinct cerebrovascular-specific effects of these medications that are related to the unique characteristics of the cerebrovascular anatomy including the regional heterogeneity in density and distribution of adrenoceptor subtypes and calcium channels along the cerebrovasculature. In this review, we critically evaluate existing basic science and clinical research to discuss known and putative interactions between adrenoceptor and calcium channel modulating pharmacotherapies, the neurovascular unit, and cerebrovascular anatomy. In doing so, we provide a rationale for selecting vasoactive medications based on lesion location and lay a foundation for future investigations that will define neuroprotective paradigms of adrenoceptor and calcium channel modulating therapies to improve neurological outcomes in acute neurological and systemic disorders.