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。     

Importancia de algunos aspectos técnicos del procedimiento de estimulación percutánea del nervio tibial posterior en pacientes con incontinencia fecal

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Reproducibility (test–retest) of vestibular evoked myogenic potential

IntroductionThere is still no consensus in the literature as to the best acoustic stimulus for capturing vestibular evoked myogenic potential (VEMP). Low-frequency tone bursts are generally more effective than high-frequency, but recent studies still use clicks. Reproducibility is an important analytical parameter to observe the reliability of responses.ObjectiveTo determine the reproducibility of p13 and n23 latency and amplitude of the VEMP for stimuli with different tone-burst frequencies, and to define the best test frequency.MethodsCross-sectional cohort study. VEMP was captured in 156 ears, on the sternocleidomastoid muscle, using 100 tone-burst stimuli at frequencies of 250, 500, 1000, and 2000 Hz, and sound intensity of 95 dB nHL. Responses were replicated, that is, recorded three times on each side.ResultsNo significant difference was observed for p13 and n23 latencies of the VEMP, captured at three moments with tone-burst stimuli at 250, 500, and 1000 Hz. Only the frequency of 2000 Hz showed a difference between captures of this potential (p < 0.001). p13 and n23 amplitude analysis was also similar in the test–retest for all frequencies analyzed.Conclusionp13 and n23 latencies and amplitudes of VEMP for tone-burst stimuli at frequencies of 250, 500, and 1000 Hz are reproducible.     

Atypical Abnormal Pulmonary Vein Drainage with Atrial Septal Defect: Surgical Treatment

Sinus venosus atrial septal defect (SV‐ASD) usually coexists with partial anomalous pulmonary vein connection (PAPVC). It is a difficult diagnosis in transthoracic echocardiography (TTE) due to eccentric position of defects. We present a rare case of atypical anatomical variation in PAPVC, which was never described before. Two right pulmonary veins drained into superior vena cava, which overrode SV‐ASD and interatrial septum, a third pulmonary vein into the right atrium. Complete diagnosis could not be set after TTE, nor transesophageal echocardiography, whereas angio‐CT was finally conclusive. This diagnostic approach allowed the surgical planning.     

经后颅窝乙状窦后入路三叉神经微血管减压术的快速康复外科护理

目的 探讨快速康复外科 （FTS）理念在经后颅窝乙状窦后入路三叉神经微血管减压术围术期患者护理中的应用效果。方法 选择2018年1月~2019年1月我院收治并行经后颅窝乙状窦后入路三叉神经微血管减压患者100例，随机分成观察组和对照组，每组50例。对照组应用常规方法进行围术期护理，观察组应用FTS理念进行围术期护理。比较两组焦虑情况、术后并发症发生率、平均住院日及平均住院费用。结果 观察组轻度焦虑多于对照组，中、重度焦虑少于对照组（P＜0.05）；观察组术后并发症发生率低于对照组[恶心呕吐（4.00% vs 16.00%）、尿路感染（4.00% vs 18.00%）、颅内感染（0 vs 8.00%）、颅内血肿（2.00% vs 14.00%）和术后应激性疼痛（16.00% vs 34.00%）]，差异有统计学意义（P＜0.05）；观察组平均住院日和平均住院费用均低于对照组[（9.13±1.14）d vs（12.44±0.89）d]；[（2.15±0.66）万元 vs （3.05±0.61）万元]，差异有统计学意义（P＜0.05）。结论 应用FTS理念能缓解经后颅窝乙状窦后入路三叉神经微血管减压术患者术前紧张恐惧的心理，减少术后并发症，缩短患者住院日，降低住院费用，护理效果较好。     

足趾移植长手指全形再造术的临床应用

目的探讨足趾移植长手指全形再造手术的临床疗效。方法自2015年6月至2019年6月,对16例因外伤致手指缺损患者采用足趾移植长手指全形再造术,术后评估供区及受区的感觉功能、运动功能及外观形态,分析指甲畸形及增生性瘢痕的发生情况,并记录术后发生感染、血肿、皮片坏死及供区愈合不良等情况;通过调查问卷的方式分析患者的满意度。结果所有患者术后获随访1~12个月,其中2例受区发生感染,1例受区皮片边缘发生坏死,经换药后予以缓解;其余患者的供、受区均未出现长时间的痛疼感觉,受区感觉功能恢复达87.50%,受区运动功能恢复均较满意,手指外形基本满意。供区感觉受影响者2例,运动功能受限者1例,外形一般者2例。所有患者无指甲畸形及增生性瘢痕发生;满意者1例,基本满意者14例,不满意者1例。结论采用足趾移植长手指全形再造手术,基本可以满足患者及医师对于缺损手指进行完美修复的目标。     

Case Study of Phrenic Nerve Paralysis: “I Can't Breathe!”

BackgroundThe anatomic course of the phrenic nerve runs in the fascia covering the anterior scalene muscle. Interscalene blocks are commonly performed by an anesthesiologist for shoulder surgery, such as a rotator cuff repair, total shoulder replacement, humeral fracture, or other arm surgery. Phrenic nerve palsy or paralysis is a known complication from interscalene block and is covered in multiple case reports and series in both Anesthesia and Neurosurgical literature, but only one case report in the Emergency Medicine literature.Case ReportThis case involves a 57-year-old man who had an uncomplicated arthroscopic rotator cuff repair with placement of interscalene block under care of anesthesia. He was discharged with a pain pump in place and then subsequently presented to the Emergency Department (ED) later that same day for evaluation of dyspnea. Using point-of-care ultrasound, his right diaphragm did not appear to be moving. Chest x-ray study revealed an elevated right hemidiaphragm. He was diagnosed with iatrogenic right phrenic nerve paralysis from interscalene block.Why Should an Emergency Physician Be Aware of This?Emergent diagnosis of phrenic nerve paralysis in the ED is complicated by a distressed patient and need for quick intervention. Most formal tests for this diagnosis are not immediately available to emergency physicians. Ultrasound is a rapid and reproducible, noninvasive resource with high sensitivity and specificity, making it an ideal imaging modality for the emergent evaluation of possible phrenic nerve palsy or paralysis.