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。     

Climate Change: Effects on the Older Adult

The effects of climate change include floods, hurricanes, heat waves, and fires; these natural disasters can result in respiratory, cardiovascular, and psychological harm in older adults, who experience the highest morbidity and mortality during heat waves. Advanced practice registered nurses (APRNs) need education on preparing, assessing, and treating older adults for climate-change disasters, especially heat waves. This article will help APRNs understand the effects of climate-change events on the vulnerable older adults and advocates for the need to integrate health effects of climate change into curricula, practicums, policy, and research agendas.     

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.     

Traditional Food Practices,Attitudes, and Beliefs in Urban Alaska Native Women Receiving WIC Assistance

Objective

To identify practices, attitudes, and beliefs associated with intake of traditional foods among Alaska Native women.

贵州省县级和城市公立医院卫生资源比较

目的 了解贵州省县级和城市公立医院的卫生资源配置现状及比较变化情况。方法 收集2015—2017年贵州省县级和城市公立医院的卫生人力、财力、物力等卫生资源配置资料,采用统计学方法进行比较分析。结果 贵州省县级和城市公立医院注册护士占卫生技术人员的百分比分别为49.11%、49.76,执业医师占比分别为24.77%、34.66%,执业助理医师占比分别为1.91%、0.72%;县级和城市公立医院医疗收入占比分别为80.28%、87.93%,财政补助收入占比分别为16.75%、9.86%;万元以上设备均主要集中在10万元以下;县级公立医院医护比逐年上升,城市公立医院略降低,2017年医护比分别为1∶1.84、1∶1.41,床位使用率均下降,分别为88.23%、94.20%;每千人口床位数逐年增加,县级和城市公立医院县级和城市公立医院分别为2.23、2.63张,每千人口卫生人员拥有量逐年增加,每千人口注册护士分别为1.11人、1.25人,每千人口执业医师分别为0.67、0.78人,每千人口卫生技术人员分别为2.11、2.44人;县级和城市公立医院卫生资源配置情况经统计分析差异有统计学意义( P<0.05)。结论 贵州省县级和城市公立医院卫生资源拥有量均低于全国,财政投入不足,县级公立医院医护比、床护比逐年上升,城市公立医院与之相反。     

城市社区在“新冠肺炎”疫情防控中的基础作用与思考

近期新型冠状病毒肺炎肆虐,正在严重威胁人们的身体健康和生命安全。政府作为应对突发公共卫生事件的主体,在疫情爆发初期存在信息沟通不畅、防控工作效率不高和民众依从性不理想等局限性,因此政府需要充分发挥社会力量。社区作为疫情防控的第一道防线,在疫情防控中具有信息收集及时准确、防控措施执行精准和社会动员效率高等优势,在应对突发公共卫生事件中的作用日渐显现。应充分发挥社区在疫情防控中的基础作用,完善城市社区防控体系建设,使其成为预防与控制疾病的重要堡垒,意义重大。     

Double Forehead Expanded Flaps for Reconstruction of Total Nasal Defect: A Case Report

ObjectiveTo introduce a method for total nasal defect reconstruction with a double forehead expanded flap.Case presentationA 55-year-old man underwent three-stage total nasal reconstruction for a complete nasal defect due to electrical injury. The skin expander was implanted during the 1st stage. Total nasal reconstruction was performed with double expanded forehead flap transfer during the 2nd stage. The unilateral forehead flap was used for lining and the contralateral forehead flap, together with the autologous cartilage and titanium mesh framework, were used for skin replacement. The forehead donor defect was covered with a skin graft. Pedicle division and inset were performed in the 3rd stage.ResultsThere was no flap loss, infection, hematoma, rhinostenosis, or implant exposure over the 2-year follow-up, and satisfactory aesthetic results were achieved.ConclusionThe double forehead expanded flap method is useful for the reconstruction of large composite nasal defects in patients who are not suitable for nasolabial flaps and those who may not tolerate free tissue transfer. The operation has fewer complications and is uncomplicated.