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。     

基于复杂网络技术对电针治疗乳腺增生病处方分析

目的基于复杂网络技术分析电针治疗乳腺增生病的核心穴位及配伍穴相关性,并对电针波型进行探讨。方法检索中国期刊全文数据库(CNKI)、万方数据库、维普网数据库(VIP)中从1954年1月1日到2018年12月31日公开发表的电针治疗乳腺增生病的临床中文文献,利用Excel表格工具建立电针治疗乳腺增生病数据库,利用Matlab2014a软件进行节点中心性分析和聚类分析,利用Gephi0.9.1软件制作复杂网络示意图对分析结果进行描述和展示,利用Excel表格工具制作电针治疗乳腺增生病不同波形比例饼状图并分析其规律。结果选定43条电针处方:电针治疗乳腺增生病主穴核心度前三位依次为膻中穴、足三里、肩井穴;配伍穴位核心度前三位依次为太冲穴、太溪穴、脾俞穴;经络核心度前三位依次为足阳明胃经、任脉、足少阳胆经。配伍穴位相关性分析中,相关性频度前三位组合依次为太冲穴-太溪穴、太冲穴-肾俞穴、太冲穴-三阴交。电针波形中以连续波与疏密波常见,均具有较高的临床应用价值。结论电针治疗乳腺增生病处方以足阳明胃经为最多,其次为任脉;电针波型以连续波为主。     

Who should do endovascular repair of complex aortic aneurysms and how should they do them?

BackgroundCure of aneurysms which involve the aorta at the level of the visceral arteries and the thoracoabdominal segment remains a considerable surgical enterprise with a relatively high mortality and morbidity despite improvements of the surgical procedure and anesthetic technique. Fenestrated and branched endovascular stent grafts are currently available offering an attractive less invasive option especially for most frail patients. These grafts are relatively recent, technically more demanding to insert than the current stent graft for infrarenal aneurysm and besides, given the relative low frequency of the disease, they are much less used by practitioners. Thus, unconditional widespread of this sophisticated technique may not necessarily benefit patients.MethodsWe reviewed our experiences and articles regarding this concern, 1) who should perform this new technique and 2) in what kind of setting.ConclusionBased on the combined complexities of 1) patients selection, 2) proper planning and manufacturing of the graft, 3) the need for outstanding imaging and operating facilities, 4) and the required endovascular skill of physicians involved in the procedure, we feel that only highly specialized centers should be allowed to perform this complex procedure.     

STRmix™ put to the test: 300 000 non-contributor profiles compared to four-contributor DNA mixtures and the impact of replicates

Probabilistic genotyping approaches are increasingly used for the interpretation of DNA mixtures. To explore the specificity of one of these systems (STRmix^™), we conducted an extensive study using 24 complex mixtures: all were known or apparent 4-person mixtures with at least one contributor representing less than 20% of total DNA, and all mixtures had at least one contributor with suboptimal DNA quantity. Those mixtures were either generated in-house or from casework. All the mixtures were compared to 300,000 virtual non-contributors, resulting in a dataset of 7.2 million comparisons. The great majority of the non-contributor comparisons led to a LR lower than 1 for a specificity of 99.1%. The effect of using replicate amplifications to calculate the LR of non-contributors was also assessed as triplicates were used and led to an increased specificity of 99.8%. The very large extent of the analyzed data shows that STRmix^™ has an excellent ability to discriminate non-contributors from complex DNA mixtures.     

前尿道代后尿道成形术治疗男性复杂性后尿道狭窄

目的探讨长段复杂性后尿道狭窄治疗新方法。方法采用分期前尿道代后尿道成形术治疗3例复杂性后尿道长段狭窄（6．5—10．0cm）患者。第一期行阴茎转位尿道端端吻合术，术后3—6个月行二期阴茎伸直、尿道会阴造口术，6个月后行第三期前尿道成形术（Johanson Ⅱ期尿道成形术）。结果例1术后排尿通畅，膀胱尿道造影检查示尿道通畅，双侧输尿管返流近消失，最大尿流率18．8ml／s，随访2年，最大尿流率18ml／s，无剩余尿。例2术后排尿通畅，最大尿流率19．5ml／s，无剩余尿，尿道扩张可顺利通过22F尿道探子。例3经会阴一耻骨联合径路行第一期阴茎转位尿道端端吻合术、尿道直肠瘘、尿道会阴瘘切除、修补术，术后尿道直肠瘘及尿道会阴瘘治愈，但因耻骨联合切口感染致吻合口狭窄，有待进一步治疗。结论分期前尿道代后尿道加前尿道重建方法是治疗男性长段复杂性尿道狭窄的有效方法。     

Nonconvulsive Status Epilepticus: High Incidence of Complex Partial Status

Nonconvulsive status epilepticus may be subdivided into generalized (absence) status and complex partial status. The latter is regarded as a rarity, whereas the former constitutes the dominant part of the hitherto reported cases. We report 10 consecutive cases of adult patients with nonconvulsive status epilepticus, all documented by ictal electroencephalographic (EEG) recordings. Five had a complex partial status; the origin of the complex partial status appeared to be frontal in four of these patients. Three had recurrent complex partial seizures with incomplete recovery between seizures, and two had more continuous symptoms. One of the latter exhibited neither motor phenomena nor automatisms. The effect of diazepam or clonazepam was immediate in all 10 cases though transient in eight. A lasting control of the status was not achieved in six patients until i.v. phenytoin was added. The difficulties in the differentiation between complex partial status and absence status despite ictal EEG recordings are discussed, illustrated by a case with seizure discharges of a focal onset which rapidly generalized. The study indicates that complex partial status may be more common and the clinical expressions of absence status more variable than hitherto recognized.     

Heubner回返动脉显微外科解剖及其临床应用

目的 :为前交通动脉复合体部位显微手术避免损伤Heubner回返动脉提供相关的应用解剖学资料。方法 :对经双侧椎动脉 (VA)、颈内动脉 (ICA)乳胶灌注的尸头标本 2 2例 ,按翼点入路方向 ,在手术显微镜下解剖观测 2 0例Heubner回返动脉的起点、管径、行径及其毗邻关系。 2例模拟手术操作。结果 :(1)本组观测到 4 3支回返动脉 ,其中 39支Heubher回返动脉 ;4支副Heubner回返动脉。 (2 )Heubner回返动脉 4 6 .5 % (2 0 / 4 3)起于A2 段 ,2 5 .6 % (11/ 4 3)起于A1段 ,2 7.9% (12 /4 3)起于前交通动脉 (ACOA)水平的大脑前动脉 (ACA)。 (3)Heubner回返动脉起点管径 :左侧 0 .81± 0 .2 1mm(0 .35～ 1.17mm) ;右侧 0 .84± 0 .2 6mm(0 .37～ 1.2 1mm)。 (4 )回返动脉发出后 ,与ACA反方向成锐角 ,沿A1上壁、外侧及后内侧 ,越过ICA两分叉 ,经大脑中动脉 (MCA)始段前面穿通入脑 ,少数回返动脉行走于前穿质 (APS)的后部。A1近端 3～ 5mm或中 1/ 3段穿通支少。结论 :在前交通动脉复合体部位手术时 ,A1近端 3～ 5mm或中 1/ 3段夹闭 ,并解剖寻找、剥离Heubner回返动脉 ,可避免损伤Heubner回返动脉及其它穿通支 ,最大限度减少术后并发症     

"分段切开,多重挂线术"治疗高位复杂性肛瘘临床研究

目的:观察"分段切开,多重挂线术"治疗高位复杂性肛瘘的临床疗效。方法:将60例高位复杂性肛瘘随机分为治疗组40例,采用"分段切开,多重挂线术";对照组20例,采用传统切开挂线术进行对比观察。结果:显示治疗组与对照组显愈率分别为95%和90%,无明显差异(P>0.05),但两组间的术后疼痛程度、创口愈合时间、肛门功能情况存在显著差异(P<0.05)。结论:在治疗高位复杂性肛瘘时,"分段切开,多重挂线术"与传统切开挂线术相比,具有手术操作简单,对组织损伤小,痛苦小、疗程短、肛门功能保护好等优点,该术式的应用,使得高位复杂性肛瘘治疗更加安全、有效。     

Pediatric intracranial aneurysms—clinical characteristics and outcome of surgical treatment

Object Intracranial aneurysms are rare in children and have different epidemiological, clinical, and morphological characteristics and outcome from those in adults. Materials and methods We analyzed demographic, clinical, radiologic features, treatment, and outcome in 55 patients <18 years of age, treated from Jan 1995 through December 2005. Results Intracranial aneurysms in children below 18 years constituted 4% of all intracranial aneurysms. Internal Carotid artery (ICA) bifurcation was the commonest location. About half of the aneurysms were complex. Three-fourth of the patients required surgical treatment. Two patients died, constituting 5% mortality. Two patients (5%) had poor outcome, whereas the majority (90%) had a favorable outcome. Conclusions Pediatric aneurysms have male predominance, higher incidence of clinical features of mass effect or seizures, high incidence of large, traumatic/mycotic aneurysms, associated illnesses and ICH/IVH and hydrocephalus, better Hunt and Hess grades at presentation, ICA bifurcation as the commonest site, and better outcome than their adult counterparts.