Primary melanoma: pitfalls in diagnostic biopsy techniques and interpretations

A group of 235 patients with melanoma were followed for 10 years. In 25 of these patients, the initial biopsy specimen obtained by the shave, punch, or incisional technique was insufficient to determine the microscopic extent of the lesion. Guidelines for treatment of these patients include evaluation of the deepest level of tumor invasion, a clinical history of the lesion, and a careful physical examination. If any visible melanoma remains, total excisional rebiopsy should be performed before definitive treatment is begun. Of the 25 patients thus managed, recurrences developed in 3 within 2 years of initial treatment. In two patients, reexcisional surgery was carried out, and they are currently free of disease. One patient died from systemic metastases. Total excisional biopsy of lesions suspected of being melanomas is strongly recommended, and shave, punch, or incisional techniques should be avoided.     

Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease

Wagner disease is a rare nonsyndromic autosomal‐dominant vitreoretinopathy, associated with splice mutations specifically targeting VCAN exon 8. We report the extensive genetic analysis of two Wagner probands, previously found negative for disease‐associated splice mutations. Next‐generation sequencing (NGS), quantitative real‐time PCR, and long‐range PCR identified two deletions (3.4 and 10.5 kb) removing at least one exon–intron boundary of exon 8, and both correlating with an imbalance of VCAN mRNA isoforms. We showed that the 10.5‐kb deletion occurred de novo, causing somatic mosaicism in the proband's mother who had an unusually mild asymmetrical phenotype. Therefore, exon 8 deletions are novel VCAN genetic defects responsible for Wagner disease, and VCAN mosaic mutations may be involved in the pathogenesis of Wagner disease with attenuated phenotype. NGS is then an effective screening tool for genetic diagnosis of Wagner disease, improving the chance of identifying all disease‐causative variants as well as mosaic mutations in VCAN.     

Wagner SL股骨柄治疗陈旧性或伴髋关节炎的股骨粗隆间骨折疗效观察

目的 :探讨Wagner SL股骨柄治疗陈旧性或伴痛性髋关节炎的股骨粗隆间骨折的临床疗效。方法 :自2006年1月至2009年12月对8例陈旧性粗隆间骨折及21例伤前有痛性关节炎的粗隆间骨折使用Wagner SL股骨柄行全髋关节置换并重建粗隆,其中男18例,女11例;年龄43~58岁,平均49岁。术后临床随访,根据Harris评分、肢体长度差异、髋关节活动范围以及髋外展肌力进行评价。影像学随访包括对股骨柄假体周围骨溶解、假体松动、透光线等进行评价。结果:29例患者均成功完成手术,未出现与髋关节置换手术相关的严重并发症。术后均获得随访,时间6~10年,平均8.2年。均无不可接受的大腿疼痛主诉。8例陈旧性粗隆间骨折患者术后首次行走时均有"手术侧肢体过长"抱怨,随时间推移,这种抱怨在明显减少。术后3个月X线片提示21例伤前痛性关节炎的粗隆间骨折愈合,平均术后6个月(3~8个月)X线片提示8例陈旧性粗隆间骨折患者的植骨块与粗隆有明显骨痂连接,末次随访时X线片均未提示假体明显下沉。髋关节活动度基本恢复正常,无髋外展无力。根据Harris评分方法,手术后6年以上对患髋关节进行评价,优18例,良9例,可2例。结论:Wagner SL股骨柄在治疗陈旧性或伴痛性髋关节炎患者粗隆间骨折的初次全髋关节置换中可取得优良的临床疗效,粗隆重建,有利假体和关节稳定,同时增加骨储备。     

糖尿病足Wagner分级的日常护理干预

目的有效控制糖尿病患者足部病变的发生和发展。方法按照Wagner分级法对32例糖尿病足患者进行中医治疗及护理干预。结论有效地控制糖尿病患者足部病变的发生发展,提高糖尿病患者的生活质量,得到满意的效果。     

相关指标评价糖尿病足溃疡严重程度的临床意义

目的研究与糖尿病足溃疡Wagner分级严重程度相关的临床指标。方法回顾性分析436例糖尿病足溃疡患者的人口学数据资料、并发症情况及血生化结果。根据Wagner分级将436例患者进行分组,分析有关指标与足溃疡严重程度的关系。结果 436例患者中Wagner1、2、3、4～5级分别为84例(19.3%)、116例(26.6%)、122例(28.0%)、114例(26.1%)。随着溃疡严重程度的增加,血白细胞计数(WBC)、中性粒细胞百分比、超敏C反应蛋白(S-CRP)、红细胞沉降率(ESR)、尿白蛋白/肌酐比值(A/C)逐渐增高,血红蛋白(Hb)、血浆白蛋白(Alb)、血清总胆固醇(CHO)、高密度脂蛋白胆固醇(HLD-C)浓度逐渐下降,各组间比较差异有统计学意义(P0.05);等级相关分析显示,糖尿病外周动脉病变(PAD)患病率、WBC、中性粒细胞百分比、S-CRP、ESR、尿A/C、感染合并营养不良等与Wagner分级呈正相关,而Hb、Alb、CHO、HLD-C则与足溃疡Wagner分级呈负相关(P0.05)。结论外周动脉病变、感染和营养不良与糖尿病足溃疡严重程度相关。     

自体骨髓干细胞移植治疗糖尿病足的效果观察

目的观察自体骨髓干细胞移植治疗糖尿病足的效果。方法将本院2008年1月～2010年12月住院治疗的52例糖尿病足患者分为两组,选择自愿行自体骨髓干细胞移植治疗的26例患者作为治疗组,未进行自体骨髓干细胞移植治疗的26例糖尿病足患者作为对照组。对照组给予扩血管、抗感染及营养末梢神经等常规治疗;治疗组在常规治疗基础上行自体骨髓干细胞移植,比较两组患者的疗效。结果移植4周后,治疗组痊愈19例,显效5例,有效2例,无效0例,总有效率为100%;对照组痊愈9例,显效7例,有效3例,无效7例,总有效率为73%,两组差异有统计学意义（P〈0.05）。结论自体骨髓干细胞移植可促进伤口愈合,降低致残率,是治疗缺血性糖尿病足的有效方法。     

Effects of the COVID-19 pandemic on the outcome and mortality of patients with diabetic foot ulcer

The outbreak of the coronavirus disease 2019 (COVID-19) led to events that significantly impaired the treatment and management of patients with chronic diabetes. Therefore, elective treatments at hospitals were cancelled and patients with chronic ailments were instructed to stay at home and minimise the time spent in public areas. The second was due to COVID-19-induced anxiety that deterred many patients from seeking care and adhering to periodic out-patient visits. In this study, we examined the short-term effects of the COVID-19 pandemic on patients with chronic diabetes who suffered from contaminated diabetic ulcers. We conducted a retrospective study with patients who had undergone amputations following diabetic ulcers during 2019-2020. The research group included diabetic amputees during the COVID-19 outbreak period ranging from March 2020 to December 2020. The control group included diabetic amputees from the corresponding period in 2019. Using the Wagner Scale, we measured the difference in the severity of ulcers upon the patient's initial admission. Additionally, we examined patient survival rates based on the size of amputations, by specifically focusing on the period between 1- and 6-months post-surgery. The results failed to suggest a clear and statistically significant worsening trend in the condition of patients in the research and control groups. Due to public lockdowns, transportation restrictions, scarcity of healthcare staff, and reduced adherence to exposure anxiety, patients with diabetic foot ulcers received inferior medical care during the COVID-19 pandemic. However, this study could not find a statistically significant difference in the mortality and major amputation rates in patients with diabetic ulcer before and during the pandemic. The health system should incorporate the existing institutional and technological recommendations to facilitate care and follow-up of patients with diabetic foot ulcers during the current and future pandemics.     

胶原及细胞外基质与先天性玻璃体异常

玻璃体是一种细胞外基质,主要成分包括胶原、透明质酸和蛋白聚糖等,编码其蛋白质成分的基因突变时,可导致不同表现的先天性玻璃体异常,如膜状、串珠状、空腔状,以及近视、视网膜脱离等。全面认识与玻璃体相关的细胞外基质成分,有助于深刻了解基因异常导致的先天性玻璃体视网膜疾病。(眼科,2023,32:89-97)