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。     

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.     

有关医院空调水系统若干问题的探讨

主要阐述空调水系统利用平衡阀调节系统阻力,保持系统水力稳定;利用软启动器实施水泵的平滑软启动;压差旁通阀的作用及选型安装;系统管道热膨胀等问题。     

真空微波工艺条件对香脆鳙鱼片品质的影响

研究了预脱水鱼片含水量、微波功率、真空度对真空微波加工香脆鳙鱼片品质的影响,在此基础上,采用混合正交试验进一步优化了真空微波制备香脆鳙鱼片的工艺条件。研究结果表明,适宜的水分含量和微波功率可以提高鱼片的膨化率和脆度,改善鱼片的感官品质。高真空度可以改善鱼片的膨化作用和脆性,提高微波加热的效率,很大程度上避免了鱼片出现焦黑点。最佳的真空微波加热条件是预脱水鱼片水分质量分数控制在(15.3±1)%(50℃鼓风干燥3.5 h),微波功率设定为高火档(686±3.5)W,在真空度0.095 MPa下加热12 s后,间歇摇匀后再加热10 s。     

头皮脑回样病变畸形

目的提高对头皮脑回样病变畸形的认识和治疗水平。方法复习有关文献,对头皮脑回样病变畸形的病因、临床表现、诊断、分类和治疗进行了分析,采用切除后植皮或扩张头皮瓣修复治疗6例。结果6例病变切除彻底,随访无复发。其中2例植皮病例患者导致局部秃发,4例扩张头皮瓣修复外形满意。结论头皮脑回样病变畸形是一种罕见的头皮良性病变,头皮扩张术是修复治疗头皮脑回样病变的理想方法。     

面颊部扩张皮瓣的设计和转移

目的探讨利用扩张皮瓣修复面颊不同部位皮肤缺损的扩张皮瓣设计。方法269例面颊部血管瘤、瘢痕、色素痣患者,依不同的皮肤缺损位置,在邻近部位放置大小适度的1~3个50~400ml容积的扩张器,扩张充分后采用推进皮瓣法、旋转推进皮瓣法和易位皮瓣法修复。结果269例中共形成305个扩张皮瓣,利用推进皮瓣121个,旋转推进皮瓣145个,易位皮瓣39个;共出现并发症52例,分别为扩张皮瓣远端血运障碍、血肿形成、感染、注水壶渗漏、扩张器外露、睑外翻和包囊挛缩,这些并发症基本未影响最终的手术效果,术后面颊部形态正常。结论我们提出的扩张皮瓣的设计和转移原则,对于面颊部的皮肤缺损组织扩张术治疗有非常重要的参考价值。     

胶原蛋白海绵在皮肤扩张术中的应用

目的：观察胶原蛋白海绵在皮肤扩张术中的临床应用效果。方法：选择40例（个）皮肤扩张器埋置和50例（个）皮肤扩张器取出及15例自身对照的病例组,应用胶原蛋白海绵术中贴敷于渗血创面,术后观察其吸收、止血效果。结果：术中渗血于2～10min内停止,病例组中无血肿发生,术后引流量明显减少,伤口愈合时间缩短。结论：在皮肤扩张术中胶原蛋白海绵是一种良好的生物止血材料。     

术中即时扩张皮肤面积增加与压力和时间的量效关系

目的探讨术中即时扩张皮肤面积增加与压力、时间的量效关系。方法用6头小型猪，压力参数分别为15、20、25kPa，时间参数为60、90min，配对组成6个实验组，1个对照组，36个实验部位。在每只猪背部皮下均匀埋置100ml圆形扩张器6个，术中即时扩张皮肤，观察扩张皮肤各径线移位特点，计算面积变化。结果扩张区周边皮肤向中心蠕动和扩张器表面皮肤伸展同时存在。扩张皮肤面积扩大在一定范围内与压力、时间增加成正比，20kPa、60min组合增幅最大，此后增幅明显减少，并逐渐引发皮肤病理性改变。结论皮肤可在一定范围内通过术中即时扩张获得面积有效增加。     

Surgically-assisted maxillary expansion

A combined surgical and orthodontic technique for management of transverse maxillary deficiencies in mature patients is described and discussed. Special references are made to the surgical release of several circummaxillary articulations to facilitate the use of a fixed expansion device, and to the authors' addition of an osteotomy below the nasal spine, to ensure that the nasal septum remains independent of the maxillary segments. Indications for the use of this surgically-assisted maxillary expansion technique, and its advantages when compared with segmented surgical expansion, are also presented.