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.     

保留足趾的自体复合第2足趾关节移植治疗手指关节炎

目的 探讨保留足趾的自体复合第2足趾关节移植治疗手指关节炎的临床疗效.方法 2016年2月至2018年6月,共收治创伤性手指关节炎9例,其中男7例,女2例;年龄19~53岁,平均31.7岁;示指3例,中指6例;掌指关节(MP)关节炎4例,近侧指骨间关节(PIP)关节炎5例;均为创伤后继发的手指关节炎.采用游离带血供的自体复合第2足趾跖趾或趾骨间关节移植进行治疗,同时将受区废弃关节(7例)或切取自体髂骨移植(2例)修复供区骨缺损保留足趾长度,供区创面均直接关闭.术后观察手指和足趾骨折愈合情况、外形、移植关节活动度(ROM)、术后供区愈合情况和行走功能及相关并发症.结果 本组术后9例移植关节全部成活,1例足部供区行髂骨植骨微型钢板固定,术后1周伤口不愈合,考虑为内固定物排异反应,予拆除钢板改克氏针交叉固定,2周后创口顺利愈合.术后随访6~30个月,平均16.3个月.手指骨折平均愈合时间7~10周,平均8.3周,手指外观及功能良好.移植后的MP活动度为50°~75°,平均65.3°,PIP活动度为10°~85°,平均60.6°.根据中华医学会手外科学分会上肢部分功能评定试用标准评价手指功能:优5例,良3例,可1例,优良率为88.9%.足趾骨折平均愈合时间9~12周,平均10.2周,所有患者足趾外形良好,行走功能正常.2例取髂骨患者供区仅残留一条线形瘢痕,无疼痛、麻木等不适.结论 游离带血供的自体复合第2足趾关节移植治疗手指关节炎,同时应用受区废弃关节或切取自体髂骨移植修复供区骨缺损保留足趾,不仅能恢复手指关节的正常结构,使关节具有良好的功能,而且能保留足趾外形与功能,减少供区损伤,具有良好的治疗效果.     

生长抑素及其类似物联合质子泵抑制剂应用于急性非静脉曲张性上消化道出血的循证分析

目的 系统评价生长抑素及其类似物联合质子泵抑制剂（proton pump inhibitor，PPI）治疗急性非静脉曲张性上消化道出血（acute non-variceal upper gastrointestinal bleeding，ANVUGIB）的有效性和安全性，并分析其用药经济性。方法 采用循证医学方法搜集生长抑素及其类似物联合PPI治疗ANVUGIB的RCT、队列研究进行meta分析，得到相应的有效性及安全性分析结果，并进行成本-效果分析。结果 最终纳入6个RCT均未接受内镜治疗，共610例受试者。Meta分析结果显示，生长抑素及其类似物联合高、中、低剂量PPI治疗在以下方面均优于单用高、中、低剂量PPI治疗，差异有统计学意义，总有效率[OR=3.34，95%CI（2.03，5.47），P<0.000 01]、止血时间[MD=-9.04，95%CI（-11.69，-6.38），P<0.000 01]、输血量[MD=-1.10，95%CI（-1.46，-0.74），P<0.000 01]；在不良反应发生率方面，2组差异无统计学意义[OR=0.49，95%CI（0.11，2.12），P=0.34]。ANVUGIB患者予生长抑素联合高、中、低剂量奥美拉唑与单用高、中、低剂量奥美拉唑进行成本-效果分析，增量成本效果比分别为172.28，217.26，330.37，敏感性分析后显示结果稳定。而接受内镜治疗后应用生长抑素及其类似物联合PPI治疗仅1个队列研究，研究结果显示内镜治疗成功后联合治疗并不优于PPI单药治疗。结论 现有证据表明，生长抑素及其类似物联合PPI治疗未经内镜治疗的ANVUGIB患者为较有效的方案，两者安全性相当、耐受性较好，从药品直接成本考虑，高剂量PPI组联合治疗较中、低剂量PPI组联合治疗更具有成本效果性。而对于经内镜下止血治疗的患者两者疗效相当，可考虑单用PPI。     

新形势下八年制医学教育的再思考

新形势下，健康中国建设和我国卫生事业发展迫切需要具有国际竞争力的医学科学家和领军人才。在现行医学教育体系中，培养具有国际竞争力的未来医学科学家和领军人才是八年制医学教育的必然选择。创新八年制医学人才培养模式应汲取长学制试办经验，直面现存问题，聚焦创新能力和创新精神，构建以研究为基础的八年制医学人才培养模式，确立“目标引领、厚植基础、面向临床、聚集创新”的办学原则，为我国卫生事业培养具有国际竞争力的未来领军人才。     

医用粘胶相关性皮肤损伤的文献计量学分析

目的: 应用文献计量学方法,分析国内外医用粘胶相关性皮肤损伤（Medical adhesive-related skin injuries,MARSI）文献的研究主题和热点。方法: 检索Cochrane Library、PubMed、EMbase、Web of science、sinoMed、CNKI、Wanfang、VIP等数据库MARSI相关文献,检索时限为建库至2019年5月。采用SPSS 22.0 软件进行文献计量分析,利用gCLUTO统计对国内外高频主题词进行聚类分析。结果: 共纳入论文103篇,其中外文文献占总文献量的27.18%,中文文献占总文献量的72.82%。聚类分析将国内外高频主题词聚为4大类,依次为皮肤损伤及损伤类型、相关危险因素、风险评估及风险管理、护理干预措施。结论: MARSI仍是国内外研究的热点,其发病机制研究仍处于探索阶段,目前尚缺乏有效的预防策略,研究领域较局限。在今后的研究中,应加强MARSI预防的研究、注重多学科合作。     

综合医院发热门诊应对新型冠状病毒肺炎的应急管理

目的 探讨综合医院发热门诊应对新型冠状病毒感染肺炎的应急管理方法及效果。 方法 加强发热门诊的管理，包括优化发热预检分诊工作流程、合理布局发热门诊、修订发热门诊工作职责与流程指引、合理调配人力资源、加强相关人员培训、严格落实院感防控措施、提供后勤保障、加强健康宣教与管理。 结果 接诊患者13 761例次，采集咽拭子591例次，静脉输液11 973例次，氧气吸入998例次。 结论 加强综合医院发热门诊管理，能有效提高护理人员对新型冠状病毒肺炎疫情的应对能力，保障护理安全。     

Bismuth Sodium Titanate Based Materials for Piezoelectric Actuators

The ban of lead in many electronic products and the expectation that, sooner or later, this ban will include the currently exempt piezoelectric ceramics based on Lead-Zirconate-Titanate has motivated many research groups to look for lead-free substitutes. After a short overview on different classes of lead-free piezoelectric ceramics with large strain, this review will focus on Bismuth-Sodium-Titanate and its solid solutions. These compounds exhibit extraordinarily high strain, due to a field induced phase transition, which makes them attractive for actuator applications. The structural features of these materials and the origin of the field-induced strain will be revised. Technologies for texturing, which increases the useable strain, will be introduced. Finally, the features that are relevant for the application of these materials in a multilayer design will be summarized.     

Intermittent Internal Fixation With a Locking Plate to Preserve Epiphyseal Growth Function During Limb-Salvage Surgery in a Child With Osteosarcoma of the Distal Femur: A Case Report

Limb shortening is a problem associated with surgery for osteosarcoma of the lower extremity in adolescents, as the tumors frequently occur near the epiphysis. Herein we report the use of a less invasive stabilization system (LISS) and an intermittent fixation method to preserve the growth function of epiphysis in an 11-year-old patient with an osteosarcoma of the distal femur.The 11-year-old male presented with left knee enlargement and pain for 2 weeks, and magnetic resonance imaging (MRI) and biopsy were consistent with osteosarcoma of the left distal femur. After preoperative chemotherapy, en bloc tumor resection was performed with margins based on MRI findings preserving the epiphyseal growth plate, the tumor cavity was filled with inactivated bone and bone cement, and a LISS was used to stabilize the femur. Aggressive postoperative chemotherapy was given. Approximately 105 weeks after surgery radiography showed that the distal end of the plate had moved superior to the epiphysis along with bone growth. Locking screws were placed in the distal part of the LISS plate to stabilize the re-implanted bone, and external fixation was not needed.The patient was able to walk with the crutches 1 week postoperatively, and bear weight on the extremity 6 weeks postoperatively. At 6 years after surgery, the patient''s height had increased 52 cm, shortening of the affected limb was only 1 cm, and the circumference of the affected limb was 2 cm smaller than that of the contralateral limb. There was no significant discomfort in the affected limb, and there was no gait abnormality. The patient could jump and run, and could participate in sports including basketball and badminton to the same degree as his peers.In summary, the novel method of bone reconstruction and fixation provided good results in a child with an osteosarcoma of the distal femur. This fixation method preserves the osteogenic function of the epiphysis and restored bone integrity simultaneously, and provides good functional recovery.