埋针法治疗面肌痉挛的研究进展

检索中国生物医学文献数据库(SinoMed)、万方数据知识服务平台(Wanfang)、中国期刊全文数据库(CNKI)、维普中文期刊服务平台(VIP)和PubMed数据库自建库起至2019年9月30日埋针法治疗面肌痉挛的相关文献,从治疗方法、选穴概况、分期辨证、作用机制进行分析、归纳、总结.最终获得中文文献45篇.埋针法...     

Significant Correlation between Delayed Relief after Microvascular Decompression and Morphology of the Abnormal Muscle Response in Patients with Hemifacial Spasm

Although microvascular decompression (MVD) is a reliable treatment for hemifacial spasm (HFS), postoperative delayed relief of persistent HFS is one of the main issues. In patients with hemifacial spasm, stimulation of a branch of the affected facial nerve elicits an abnormal response in the muscles innervated by another branch. Several specific types of waves were found in the abnormal muscle response (AMR). This study aimed to confirm the relationship between the initial morphology of the AMR wave and delayed relief of persistent HFS after MVD. We retrospectively analyzed and compared the data from 47 of 155 consecutive patients who underwent MVD for HFS at our hospital between January 2015 and March 2020. Based on the pattern of the initial AMR morphology on orbicularis oculi and mentalis muscle stimulation, patients were divided into two groups, namely, the monophasic and polyphasic groups. The results of MVD surgery for HFS were evaluated 1 week, 1 month, and 1 year postoperatively, by evaluating whether or not the symptoms of HFS persisted at the time of each follow-up. There were significantly higher rates of persistent postoperative HFS in patients with the polyphasic type of initial AMR at 1 week and 1 month after the surgery (p < 0.05, respectively), as assessed using Yates chi-squared test and Fisher''s exact test. A significant correlation was observed between delayed relief after MVD and polyphasic morphology of the AMR in electromyographic analysis in patients with hemifacial spasm.     

不同靶点脑深部电极植入术治疗Meige综合征的疗效评价

目的 探讨不同靶点脑深部电极植入术（deep brains stimulate,DBS）治疗Meige综合征的疗效。方法 回顾性分析重庆医科大学第一附属医院神经外科自2019年3月至2022年4月行不同靶点DBS治疗的8例患者的临床资料。8例原发性Meige综合征患者分别接受了双侧丘脑底核（subthalamic nucleus,STN）或苍白球内侧部（globus pallidus internus,GPI）脑深部电刺激术。采用肌张力障碍评定量表（Burke-Fahn-Marsden dystonia rating scale,BFMDRS）、汉密尔顿焦虑量表（Hamilton anxiety scale,HAMA）和汉密尔顿抑郁量表（Hamilton depression scale,HAMD）分别对患者术前和术后肌张力、肢体运动功能及精神情况进行评估并记录术后相关并发症。结果 术后12个月8例患者的BFMDRS平均改善率为（77.17±11.63）%,且接受GPI刺激与接受STN刺激患者之间平均运动评分改善率分别是76.49%、77.85%,两个靶点均能有效改善患者症状,差异无统计学意义（P>0.05）。另HAMA量表、HAMD量表各项评分较术前均有不同程度改善。结论 不同靶点的DBS治疗均能有效、安全改善Meige综合征的临床症状,可作为药物、肉毒素局部注射治疗无效情况下的替代性方案。     

Co‐occurrence of progressive hemifacial atrophy due to morphea with homolateral segmental vitiligo: A case report

Simultaneous occurrence of progressive hemifacial atrophy due to morphea and homolateral segmental vitiligo, younger onset, rapid progression followed by stabilization and dermatomal distribution suggests a possible relationship between them.     

大鼠MeCP2基因HSV-1型反义表达载体的构建与鉴定

目的以真核表达载体单纯疱疹病毒Ⅰ型(Herpes simplex virus type 1,HSV-1)质粒型载体(pHSV)作为表达载体,构建大鼠MeCP2基因反义表达载体.方法用PCR方法扩增出大鼠MeCP2 cDNA部分片段,将其反向插入表达载体pHSV,并以PCR、酶切电泳以及DNA测序等方法对重组质粒进行鉴定.结果经过PCR、酶切电泳以及DNA测序,鉴定出连接方向和插入序列正确的反义表达载体.结论成功构建了大鼠MeCP2基因HSV-1型反义表达载体,为进一步研究该基因的功能打下了基础.     

常染色体显性Waardenburg综合征1家系基因突变分析

【摘要】 目的 报道1个常染色体显性Waardenburg综合征家系，检测并分析其致病基因。方法 收集1个中国汉族常染色体显性Waardenburg综合征家系，采集先证者及其父母临床资料和外周血，提取DNA，应用二代皮肤靶向测序包检测患者突变基因，Sanger测序验证确定致病基因。结果 先证者表现为腹部、下肢不规则白斑，右耳中重度感音神经性耳聋，双眼虹膜异色，其母亲双眼虹膜异色，内眦赘皮，早白发，眉毛粗浓，该家系中先证者及其母亲均诊断为Waardenburg综合征，且两者 PAX3基因7号外显子编码区第976-977位AG均被替换为T，导致PAX3蛋白从第327位氨基酸开始发生移码（第327位氨基酸由苏氨酸转变为脯氨酸），到第54位氨基酸位置时终止［c.976-977delinsT（p.Thr327Profs*54）］；患儿父亲未患病，基因检测正常。结论 PAX3基因移码突变c.976-977delinsT（p.Thr327Profs*54） 为新发现的突变，可能为引起该家系患者临床表型的致病基因。     

CAD/CAM应用于健侧下颌角截骨及预成型钛网联合移植整复半侧颜面短小

目的 探讨计算机辅助设计及制作(CAD/CAM)技术应用于预成型钛网及健侧下颌角移植整复成人半侧颜面短小畸形(HFM)的适应证及临床效果。方法 纳入2013—2021年成人轻型半侧颜面短小畸形患者11例，术中切取对侧肥大下颌角联合预制个性化钛网植入患侧下颌骨。测量比较患者术前后患侧与健侧下颌体及下颌支的长度及三维角度、不对称指数，并结合面相照、术后并发症评估其治疗效果。结果 所有患者术后面型明显改善，对手术效果满意，且无明显不良并发症。术后三维测量结果显示：除双侧下颌升支高度存在轻微不对称，术后患者下颌骨对称性良好(P>0.05);不对称指数由术前(17.11±4.56)%改善至术后(4.81±1.73)%(P=0.002)。结论 该技术适用于健侧下颌角肥大的轻型半侧颜面短小畸形，可获得较满意的美学及临床效果。     

程为平教授头部“个”字透刺法治疗Meige综合征的临床体会

列举典型病例介绍“程氏头项针法”中“个”字透刺法治疗Meige综合征的方法和机理.Meige综合征目前尚无根治方法,程为平教授运用“程氏头项针法”并配以体针治疗本病多例均收获良效.本法依据“迎随补泻”理论,虚证由百会向神庭顺督脉透刺以补养脑髓,实证则由神庭向百会透刺以清泻督脉之邪气,使脑神得司,调节锥体系机能;双侧络却向头维穴透刺调理脑部气血,恢复锥体外系的正常机能.同时辨证配以体针而获得调节肌张力、止痉挛的效果.     

The etiology,clinical features,and treatment options of hemifacial microsomia

The second most frequent craniomaxillofacial congenital deformity is hemifacial microsomia (HFM). Patients often accompany short mandible, ear dysplasia, facial nerve, and soft tissue dysplasia. The etiology of HFM is not fully understood. To organize the possible up-to-date information on the etiology, craniofacial phenotypes, and therapeutic alternatives in order to fully comprehend the HFM. Reviewing the potential causes, exploring the clinical features of HFM and summarizing the available treatment options. Vascular malformation, Meckel's cartilage abnormalities, and cranial neural crest cells (CNCCs) abnormalities are three potential etiology hypotheses. The commonly used clinical classification for HFM is OMENS, OMENS-plus, and SAT. Other craniofacial anomalies, like dental defects, and zygomatic deformities, are still not precisely documented in the classification. Patients with moderate phenotypes may not need any treatment from infancy through adulthood. However, patients with severe HFM require to undergo multiple surgeries to address facial asymmetries, such as mandibular distraction osteogenesis (MDO), autologous costochondral rib graft (CCG), orthodontic and orthognathic treatment, and facial soft tissue reconstruction. It is anticipated that etiology research will examine the pathogenic mechanism of HFM. A precise treatment for HFM may be possible with thoroughly documented phenotypes and a pathogenic diagnosis.