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。     

Rapid Increase in Neural Conduction Time in the Adult Human Auditory Brainstem Following Sudden Unilateral Deafness

Individuals with sudden unilateral deafness offer a unique opportunity to study plasticity of the binaural auditory system in adult humans. Stimulation of the intact ear results in increased activity in the auditory cortex. However, there are no reports of changes at sub-cortical levels in humans. Therefore, the aim of the present study was to investigate changes in sub-cortical activity immediately before and after the onset of surgically induced unilateral deafness in adult humans. Click-evoked auditory brainstem responses (ABRs) to stimulation of the healthy ear were recorded from ten adults during the course of translabyrinthine surgery for the removal of a unilateral acoustic neuroma. This surgical technique always results in abrupt deafferentation of the affected ear. The results revealed a rapid (within minutes) reduction in latency of wave V (mean pre = 6.55 ms; mean post = 6.15 ms; p < 0.001). A latency reduction was also observed for wave III (mean pre = 4.40 ms; mean post = 4.13 ms; p < 0.001). These reductions in response latency are consistent with functional changes including disinhibition or/and more rapid intra-cellular signalling affecting binaurally sensitive neurons in the central auditory system. The results are highly relevant for improved understanding of putative physiological mechanisms underlying perceptual disorders such as tinnitus and hyperacusis.     

Acute sensorineural hearing loss in hemodialysis patients

Abstract

Background: Approximately, 30–40% of patients experienced hearing loss under regular hemodialysis.

Objective: This study reviewed our experience on treating acute hearing loss in patients under regular hemodialysis over the past two decades.

Methods: Twenty-six patients having acute hearing loss under hemodialysis were divided into two groups based on their etiologies. Sixteen patients (16 ears) with sudden sensorineural hearing loss (SSHL) were assigned to Group A and 10 patients (13 ears) with endolymphatic hydrops (EH) were assigned to Group B.

Results: No significant difference was noted between Groups A and B, regardless of hemodialysis duration, clinical manifestation, underlying systemic diseases, blood examination, and vestibular test battery. In contrast, serum osmolality was significantly lower in Group B (292?±?11 mOsm/kg) than in Group A (310?±?11 mOsm/kg). Furthermore, Group B (40?±?14?dB) had better mean hearing level than Group A (87?±?21?dB) in the initial audiogram, and a higher hearing improvement rate (69%) than Group A (19%).

Conclusions and significance: Both SSHL and EH are major causes for precipitating acute hearing loss in hemodialysis patients. Compared to SSHL, the less deteriorated MHL and lower serum osmolality in EH provide two clues for differentiating acute hearing loss in hemodialysis patients.     

中原地区遗传性非息肉病性大肠癌表型特征的临床研究

目的探讨中原地区遗传性非息肉病性大肠癌(HNPCC)的表型特征,为制订适合我国国情的HNPCC遴选标准提供依据。方法对符合Am sterdam标准的8个家系37例患者的临床资料(A组),与随机抽调我院40例确切无家族史的大肠癌患者的临床资料(B组)进行对比分析。结果①发病年龄:A组平均46岁,B组62.6岁,平均提前16.6年;<50岁者:A组73%(27/37),B组30%(12/40),两组比较P<0.01;第1、2、3代平均发病年龄分别为69.2、46.9、34.6岁,逐代比较差异有统计学意义(P<0.05或P<0.01)。②发病部位:右半结肠A组73.2%(30/41),B组39.0%(16/41),两组比较P<0.05。③同时、异时多发大肠癌:A组8.1%(3/37),B组2.5%(1/40)。④大肠外癌:A组17.1%(7/41),B组0,两组比较P<0.05。⑤合并腺瘤:A组0,B组22.5%(9/40),两组比较P<0.05。⑥组织学类型:低分化腺癌A组69.7%(23/33),B组40%(16/40),两组比较P<0.05。结论中原地区HNPCC有其独特的临床特征,国际遴选标准不能完全适用于中国人,制定适合我国国情的HNPCC遴选标准确有必要。     

Bone scintigraphy in hereditary mutiple exostoses

A case of hereditary mutiple exostoses is presented. ^99mTc-MDP imaging demonstrated uptake of radiotracer in the lesions.     

Aesthetic refinements in prophylactic mastectomy with immediate reconstruction

Immediate reconstruction of more than 1000 breasts was performed on high-risk patients on whom a prophylactic mastectomy was done. The mastectomy removes as much breast tissue as possible while leaving sufficient skin, and possibly the nipple-areola complex, to enable immediate reconstruction. The creation of symmetrical, well-balanced muscle pockets for the implant is the most important factor in producing satisfactory results in these cases.     

Sensory axonopathy in hereditary distal spinal muscular atrophy

A girl of 14 year is presented with a distal spinal muscular atrophy (SMA) with autosomal recessive inheritance. The technical findings are in agreement with the diagnosis. Light microscopical examination of sural nerve biopsy, including teased fiber studies and morphometry, showed no abnormalities. Electron microscopical investigation however demonstrated axonal pathology. The question arises if distal SMA is a distal axonopathy mainly of motor nerves, but to some extent also of sensory nerves.     

舒血宁注射液治疗突发性耳聋的疗效评价

目的：观察舒血宁注射液治疗突发性耳聋的疗效。方法：用舒血宁注射液治疗60例突发性耳聋，金纳多注射液作为对照。结果：舒血宁注射液，治疗突发性耳聋总有效率为94．3％，其中痊愈率114％；显效率45．7％；有效率37.1％，与进口金纳多注射液无明显差别。结论：舒血宁注射液是治疗突发性耳聋有效、安全、经济的新药物。     

遗传性小脑型共济失调症(附55例报告)

本文分析了55例小脑型遗传性共济失调的临床资料，男女之比为4：1，2/3患者年龄在37～50之间，并发症状多为行走不稳。主要临床表现为兼有躯干和肢体共济失调（78.2％），眼震（56.4），构音障碍（69.l％），约1/4病人有病理征及家族史。讨论了本病与其他疾病所致共济失调的鉴别诊断，以及本病的病理学基础。