Electroconvulsive therapy plays an irreplaceable role in treatment of major depressive disorder

Major depressive disorder is a serious and common neuropsychiatric disorder that affects more than 350 million people worldwide. Electroconvulsive therapy is the oldest and most effective treatment available for the treatment of severe major depressive disorder. Electroconvulsive therapy modifies structural network changes in patients with major depressive disorder and schizophrenia. And it can also affect neuroinflammatory responses and may have neuroprotective effects. Electroconvulsive therapy plays an irreplaceable role in the treatment of major depressive disorder.     

A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1

Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs’ proximal bones, with the cranio-facial sphere unaffected. We report a second individual, an 8-year-old girl, with autosomal recessive rhizomelic SEMD associated with a homozygous exonic missense variant, c.226G > A p.(Glu76Lys), in GNPNAT1 identified by trio genome sequencing. Our data corroborate the recent findings of Ain et al. and further delineate the clinical and radiographic features of this form of SEMD associated with rhizomelic dysplasia while outlining a potential hotspot in this newly described genetic disorder.     

注意缺陷多动障碍儿童执行功能的评估与干预

ADHD儿童认知障碍的主要特征之一是执行功能损害,涉及包括前额叶皮层在内的特定脑区域及多层级脑网络异常。执行功能按照功能性分为冷-热两方面:冷执行功能损害主要表现于反应抑制、工作记忆以及认知灵活性等;热执行功能损害通常涉及延迟满足、赏罚相关决策、自我调节及情绪调节等。ADHD儿童的执行功能评估应基于可信范式进行文化适应性调整。临床干预不能单一聚焦于冷执行功能,需关注儿童的身体发育以及热执行功能(情绪社会方面)的发展进程,结合其他共病与心理状况,进行全面的动态随访与干预,以达到最佳的长期疗效。     

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。     

Accurate detection of reemergent anti-donor ABO antibody is crucial for safe transfusion in ABO major incompatible HSCT patient after achieved the stages of full switch to donor type

Dynamic monitoring ABO chimera including erythroid ABO antigen and anti-A/B is crucial to not only assess the status of erythroid engraftment but also achieve personalized safety transfusion in patients post ABO incompatible hematopoietic stem cell transplantation. Transfusion support for ABO incompatible (ABOi) HSCT patients after achieved complete alteration to donor origin still remains cautious because the instant hematopoietic status on these transplant patients possibly returned to patient origin derived from early disease relapse and graft loss or failure. We reported that reemergent anti-B in a female patients (donor/patient: B/O) at the early phase after achievement complete donor type were not effectively found from partial automatic ABO blood grouping systems, which directly resulted in differential judgement of transplantation stage for about 15 days and disturbed the optimal recommendation on transfusion support. Meanwhile, the solely alteration of ABO chimera was found and earlier than changes of other markers such as MRD diagnosis, chimerism analysis by STR-PCR and sex chromosome assays, which can be an available predictors for bad transplant outcomes such as graft failure.