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。     

COVID-19 pandemic,as experienced in the surgical service of a district hospital in Spain

The coronavirus disease 2019, which is caused by severe acute respiratory syndrome coronavirus 2, was first identified in December 2019 in Wuhan, China, and has since spread rapidly, evolving into a full-blown pandemic. We would like to report our experience after 1 year of this pandemic in the surgical service of a district hospital in Spain. There have been many changes (including new protocols) that our service and the hospital have undergone, to adapt to the new situation. We believe that this experience can be useful for other professionals who have lived and are living a similar situation.     

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.     

2022年北京冬奥会定点医院医疗卫生保障实践

2022年北京冬奥会是全球瞩目的盛事，如何有效提升延庆赛区定点医院医疗卫生保障能力是冬奥会筹办过程中需要解决的重大课题。文章系统总结延庆赛区冬奥定点医院医疗保障特点、主要做法和经验，旨在为今后大型赛事定点医院的医疗保障提供参考。     

Statin use and medically attended acute respiratory illness among influenza vaccine recipients

BackgroundPrevious studies have suggested that statins decrease influenza vaccine effectiveness and increase risk of medically attended acute respiratory illness (MAARI).ObjectivesTo examine the association of incident statin use and MAARI in a cohort of influenza vaccine recipients.MethodsThis retrospective cohort study evaluated influenza vaccine recipients within the Tricare population. The primary outcome compared MAARI incidence during the follow-up period in a propensity score-matched cohort of incident statin users and statin non-users. Secondary analysis included propensity score-adjusted comparisons between incident statin users and statin non-users in the entire cohort and prespecified sub-cohorts with and without comorbidities. The propensity score was derived from 72 variables encompassing demographics, medical history, comorbidities, medication use, and healthcare utilization.ResultsMAARI incidence in statin users was similar to non-users in the propensity score-matched cohort (odds ratio [OR] 0.92; 95% confidence interval [CI] 0.84–1.01). In contrast, statin users with lower comorbidity had lower OR for MAARI compared to non-users (Charlson Score zero cohort: 0.85 [CI 0.74–0.98]; No Diabetes cohort: 0.88 [CI 0.80–0.96]).ConclusionIncident statin use was not associated with increased MAARI incidence and may be associated with lower incidence of MAARI in those with less comorbidity. This study thus offers reassurance regarding the effectiveness of the influenza vaccine in statin users.