Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population

Epidermolysis bullosa (EB) is a heritable blistering disorder. We performed a next-generation sequencing-based multigene panel test and successfully predicted 100% of the EB types, including, 36 EB simplex (EBS), 13 junctional EB (JEB), 86 dystrophic EB (DEB), and 3 Kindler EB. Chinese JEB and recessive DEB (RDEB) patients have relatively mild phenotypes; for severe type separately accounts for 45.5% and 23.8%, respectively. We identified 96 novel and 49 recurrent pathogenic variants in 11 genes, although we failed to detect the second mutation in one JEB and five RDEB patients. We identified one novel p.E475K mosaic mutation in the clinically normal mother of one out of 13 EBS patients with KRT5 mutations, one recurrent p.G2034R mosaic mutation, and one novel p.G2043R mosaic mutation in the clinically normal relatives of two out of 19 dominant DEB patients. This study shows that next-generation technology could be an effective tool in diagnosing EB.     

海南省三亚地区2019—2020年妊娠期糖尿病发生情况及与孕妇饮食行为的关系研究

目的调查海南三亚地区2019—2020年妊娠期糖尿病(GDM)发生情况并研究其与孕妇饮食行为的关系。方法以2019年1月—2020年12月在海南三亚地区2家医院产科建档行定期规范产前检查的孕妇为研究对象,调查孕妇的基本临床资料与饮食行为情况,采用单因素分析、多因素分析方法分析孕妇饮食行为与GDM发病的关系。结果 20 086名孕妇中,GDM患者3 173例,GDM发生率为15.80%。高龄(OR=3.812)、孕前体质量指数(BMI)高(OR=2.473、2.975)、有糖尿病家族史(OR=2.730)、甜食食用频率高(OR=1.394、1.723)、每日水果摄入量多(OR=1.342、1.387、1.458)、精制谷物比例高(OR=1.357)、高脂食品摄入频率高(OR=1.510)的孕妇发生GDM的可能性较大,日运动时间≥1 h(OR=0.435)的孕妇发生GDM的可能性较小。结论海南三亚地区GDM发生率较高,其发生与孕妇饮食行为有关,甜食与高脂食品摄入频率过高、每日水果摄入量过多、主食过于精制是GDM的危险因素,每日运动时间≥1 h是GDM的保护因素。     

肌少症对老年肝癌术后恢复及预后的影响

目的:肌少症对老年肝癌术后恢复及预后的影响。方法:选取2015年1月至2017年12月收治的114例老年肝癌，根据有无合并肌少症，分为肌少症组（n=35）和非肌少症组（n=79）。比较两组患者的术后恢复及生存情况。结果:肌少症组总并发症发生率、住院时间和30 d再入院率均高于对照组，差异均有统计学意义（P＜0.05）。肌少症组中位生存时间为25.9个月，1年、2年、3年累积总生存率为74.3%、51.1%、24.5%，而非肌少症组中位生存时间为35.7个月，1年、2年、3年累积总生存率为87.3%、75.6%、49.4%，差异有统计学意义（P=0.004）。单因素分析结果显示，老年肝癌术后预后与Charlson合并症指数（CCI）、肌少症、巴塞罗那分期（BCLC）、甲胎蛋白、肿瘤大小、肿瘤个数、肿瘤分化程度、微血管侵犯（MVI）相关（P＜0.05）。Cox多因素分析结果显示，CCI、肌少症、BCLC分期、肿瘤个数、MVI是老年肝癌术后预后的独立危险因素（P＜0.05）。结论:肌少症会增加老年肝癌患者术后并发症发生率，延长住院时间，影响术后恢复，同时也会降低总生存率。     

Effect of group reminiscence therapy on depression and perceived meaning of life of veterans diagnosed with dementia at veteran homes

ABSTRACT

Most senior veterans who live in veteran homes in Taiwan have few interpersonal relationships. Aging is often accompanied by solitude and illness, which causes senior veterans to doubt the meaning of life and to lose confidence in the value of life. This study tested the effectiveness of a group reminiscence therapy protocol on the depression and meaning of life among elderly institutionalized veterans. A quasi-experimental design was applied. A convenience sample of older adults was drawn from two veteran homes in southern Taiwan. Participants were assigned to intervention or control groups based on the veterans' homes they attended. The participants in the intervention group carried out group reminiscence therapy for 8 weeks in addition to their daily activities. The participants in the comparison group maintained their daily activities. Both groups were evaluated using the GDS-SF and MLS scale including two aspects of depression mood and meaning of life in weeks 1 and 8. The overall life satisfaction increased significantly over time for the intervention group compared to the comparison group from week 1 to week 8. The group reminiscence therapy programs showed promising effects in improving the depression and meaning of life of older veterans living in veteran homes.