脊髓小脑共济失调2型家系ATXN2基因中间重复病例表型与分子遗传学特征

目的探讨脊髓小脑共济失调2型(SCA2)致病基因ATXN2异常等位基因中间重复个体的表型和分子遗传学特点。方法针对2005—2018年中日友好医院神经科运动障碍与神经遗传病研究中心收集的1383个常染色体显性遗传共济失调家系的先证者和部分家系成员,采用荧光标记毛细管电泳片段分析方法进行动态突变检测,对携带ATXN2基因中间重复的个体进行临床表型和遗传特征分析。结果共检出163个家系(包含先证者和家系成员共203人)携带异常扩展的ATXN2基因CAG重复序列,其中93个家系中有107例的异常扩展等位基因重复次数在29~34次之间。在其中的20个亲子对中,父系遗传16个,异常等位基因的代间扩展增加0~28次,母系遗传4个,异常等位基因的代间扩展增加0~4次。结论对于临床拟诊SCA2家系患者,需对其亲代或成年子代个体进行ATXN2基因检测,以免漏诊。动态突变基因检测有助于识别中间重复的个体,对明确家系致病基因和遗传咨询至关重要。     

肿瘤性复杂性胸壁缺损的修复策略及对肿瘤治疗的积极影响

复杂性胸壁缺损的修复一直是一项极具挑战性的工作。肿瘤性复杂性胸壁缺损的修复决策及其执行困难是限制胸壁肿瘤治疗方法选择及影响预后的重要因素之一。皮瓣解剖学研究的深入、胸壁支持结构重建技术的进步、显微外科技术的发展、麻醉护理的发展、对综合治疗的重视和治疗手段的进步等,使传统认为不可切除的胸壁肿瘤得以彻底地切除和安全有效地修复,从而使与缺损修复相关的肿瘤切除及辅助治疗的禁忌证缩减到最小程度,有效地提高了胸壁肿瘤患者的生存质量,并很大程度上延长了生存率。作者以湖南省肿瘤医院整形外科15年565例胸壁肿瘤切除后修复重建的临床资料为依据,充实了胸壁肿瘤切除及修复的策略:(1)可靠的胸壁骨性支架重建;(2)有效的软组织修复;(3)麻醉及护理与手术团队的合作;(4)系统有序的综合治疗。并进一步明确了复杂胸壁肿瘤切除及重建的细节理念,包括胸部肿瘤治疗中加强多学科合作的密切性和科学性,整形外科医生参与肿瘤治疗整体规划的主动性和时机前移等。     

眼睑分裂痣的手术整形研究

目的：探究眼睑分裂痣的不同手术方法和治疗效果。方法随机选取该院在2014年1月—2015年12月收治的60例需要进行眼睑分裂痣手术治疗的患者作为观察对象,将其按照抽签法随机分为A组(n=20)、B组(n=20)和C组(n=20),A组患者采用全厚皮片移植术；B组患者采用转移或推进皮瓣术；C组患者采用皮片移植+皮瓣转移术。首先对3组患者的治疗效果进行观察,然后比较3组患者在治疗后的不良反应发生情况,对比不良反应的发生率。结果3组患者的治疗效果均较好,所有患者的上伤口在1期即全部愈合,未出现明显的睑缘切痕；A组患者中,出现不良反应的患者有1例,占5.0%。B组中,无患者出现不良反应,不良反应发生率为0.0%。C组中,出现不良反应的患者有1例,占5.0%。3组患者之间差异无统计学意义(P﹥0.05)。结论治疗眼睑分裂痣的方法较多,全厚皮片移植术、转移或推进皮瓣术以及皮片移植+皮瓣转移术均有较好的效果,患者无明显的不良反应,并且痊愈的效果较好,手术的操作也较为简便易行,具有较高的安全性和可行性,值得临床推广。     

Islanded facial artery osteomyomucosal/osseous flap in head and neck reconstruction

A local pedicled vascularized bone flap can prevent the morbidity and cost of free bone flap surgery in small segmental bone defects or long cartilaginous defects of the head and neck. Such flaps can also be useful in patients who are high risk for surgery. The periosteal vascularity of the mandible can be used to design islanded facial artery-based bone flaps, which can be utilized to that extent. Two patients with a small segmental mandibulectomy defect and one patient with a long cricotracheal resection defect underwent reconstruction using three different designs of islanded facial artery osteomyomucosal/osseous flap (iFOMM). The patients had a minimum follow-up period of 18 months. All flaps were successful, with satisfactory healing and without any functional deficit or disease at last follow-up.     

Are hand biomechanics affected following radial forearm flap harvest? A systematic review and meta-analysis

Donor site morbidity following radial forearm flap (RFF) harvest remains a controversial issue. The aim of this meta-analysis was to answer the question “Are the range of wrist movements (range of motion, ROM) and hand strength affected after RFF harvesting?” The PubMed, Embase, Scopus, and Cochrane Library electronic databases were systematically searched (to December 2019). Self-controlled studies evaluating hand biomechanics after RFF harvest were included. Weighted mean differences with 95% confidence intervals were calculated using the random-effects model. The outcome variables were ROM, forearm movements, grip, and pinch strengths. Thirteen studies involving a total of 335 patients were included. With the exception of grip strength and supination, which showed statistically significant reductions of about 2.40 kg and 2.86° (P < 0.05), all other ROM, forearm movements, and pinch strengths showed an insignificant difference when the operated hand was compared to the non-operated hand (P > 0.05). Regression analysis showed that the method of donor site closure and size of the donor site defect had an insignificant impact on hand biomechanics. This study confirms the lack of discernible biomechanical morbidity after RFF transfer. The minimal reduction in hand biomechanics after RFF is considered to be clinically negligible.     

Key Social Determinants to Narrow the Gap between Health-adjusted Life Expectancy and Life Expectancy in Megacities

ObjectiveImprovement in the quality of life is reflected in the narrowing of the gap between health-adjusted life expectancy (HALE) and life expectancy (LE). The effect of megacity expansion on narrowing the gap is rarely reported. This study aimed to disclose this potential relationship.MethodsAnnual life tables were constructed from identified death records and population counts from multiple administrative sources in Guangzhou, China, from 2010 to 2020. Joinpoint regression was used to evaluate the temporal trend. Generalized principal component analysis and multilevel models were applied to examine the county-level association between the gap and social determinants.ResultsAlthough LE and HALE in megacities are increasing steadily, their gap is widening. Socio-economic and health services are guaranteed to narrow this gap. Increasing personal wealth, a growing number of newborns and healthy immigrants, high urbanization, and healthy aging have helped in narrowing this gap.ConclusionIn megacities, parallel LE and HALE growth should be highly considered to narrow their gap. Multiple social determinants need to be integrated as a whole to formulate public health plans.