Analysis of Heterozygous BRCA1 5382ins Founder Mutation in a Cohort of Egyptian Breast Cancer Female Patients Using Pyrosequencing Technique

Background: Up to half of the heritable mutations in breast cancer (BC) are attributed to BRCA1 and BRCA2 genes. The mutation prevalence is variable based on ethnicity and may be influenced by founder mutations. The aim of this pilot study is to determine for the first time, the prevalence of BRCA1 5382insC founder mutation in a cohort of Egyptian familial breast cancer patients (FBC). Methods: Female patients were selected to have familial type of breast cancer. Twenty healthy females were included as a control group. Peripheral blood samples were withdrawn from all studied females and were analyzed for BRCA1 5382insC founder mutation detection using pyrosequencing technique. Results: Eighty Egyptian FBC females were eligible to be enrolled in the study with a mean age of 48.31 ± 10.97years.We found a BRCA1 5382insC mutation carrier frequency of 5% of total studied FBC patients (4 out of 80 patients) with 95% confidence interval (1.61-12.99). There was a high statistical significant difference between carriers and non-carriers concerning the number of affected family members by BC, (p=0.001).  Conclusion: BRCA1 5382insC founder mutation is not uncommon among Egyptian FBC females. The carrier frequency is comparable to that reported worldwide; however it is lower than those from previous Egyptian studies using different molecular techniques. The strong association between the mutation and the number of affected family members suggest wider screening of the mutation among high risk families using the reliable pyrosequencing technique.     

从TaTME发展看直肠癌微创外科治疗进步

随着科学技术的进步和对疾病本身认识的深入，直肠癌的外科治疗从局部切除到全直肠系膜切除（TME），从开放手术到腹腔镜手术，再从腹腔镜手术到机器人手术，目前已经进入微创时代。在此时代背景下，经肛门全直肠系膜切除（TaTME） 应运而生。正如TME的提出者Heald所言：“TaTME是近30年直肠癌外科治疗技术的集大成者”，其发展的每一个阶段都有很强的代表性，已成为直肠癌微创外科治疗技术进步发展的一个缩影。     

Clinical clues for differential diagnosis between verruca plana and verruca plana‐like seborrheic keratosis

Sometimes the clinical differentiation between verruca plana (VP) and VP‐like seborrheic keratosis (SK) could be challenged. However, there have been no studies on this issue to date. The aim of this study was to elucidate clinical and dermoscopic differences between these two diseases, and also to suggest a diagnostic algorithm of VP and VP‐like SK without skin biopsy. The patients who had lesions clinically considered as VP or VP‐like SK were the target of our study. We took clinical and dermoscopic photos with informed consent and conducted a questionnaire. All patients had their diagnoses confirmed by biopsy. Thirty‐three patients were enrolled in our study. Seventeen patients were finally diagnosed with VP (51.5%) and 16 patients with VP‐like SK (48.5%). In clinical findings, VP‐like SK showed significantly more scattered distribution than VP (P = 0.039), which exhibited more clustered or grouped distribution (P = 0.039). In dermoscopic findings, brain‐like appearance was more commonly observed in VP‐like SK (P = 0.003) whereas VP showed more red dots or globular vessels (P = 0.017) and even‐colored light brown to yellow patch (P < 0.001). Sex, onset age, the size of each lesion, location, color and shape showed no significant differences between them (P > 0.05). Based on our results, we suggest a diagnostic algorithm using Koebner's phenomenon, dermoscopic findings, distribution of each lesion and biopsy for multiple VP‐like lesions in adults, and we think it will be a very useful diagnostic tool in daily clinical dermatological practice.     

经皮微波消融联合经皮穿刺椎体成形术治疗腰椎转移瘤的疗效

目的 观察微波消融（microwave ablation，MWA）联合经皮穿刺椎体成形术（percutaneous vertebroplasty，PVP）治疗腰椎转移瘤的临床疗效。方法 回顾性分析2016年6月至2019年6月广西医科大学附属肿瘤医院收治的50例腰椎转移瘤患者的临床资料，其中行经皮椎体成形术26例（PVP 组），经皮微波消融联合经皮椎体成形术24例（PVP+MWA组）。观察两组患者疼痛、功能状态以及骨水泥外渗情况和术后肿瘤复发率。结果 随访6～36个月，PVP组VAS评分从术前的（7.58±1.06） 分降至术后1个月的（3.27±1.40） 分和术后6个月的（3.08±1.60） 分；PVP+MWA组从术前的（7.67±1.05） 分降至术后1个月的（3.04±1.20） 分和术后6个月的（2.96±1.46） 分，两组术后 1个月及6个月的VAS评分低于术前（均P<0.05）,但重复测量方差显示，组间效应差异无统计学意义（F=0.223，P=0.801）。术后1个月，PVP组的KPS评分较术前提升（21.50±11.32） 分，PVP+MWA组较术前提升（19.92±13.19） 分，两者差异无统计学意义（t=0.457，P=0.650）。PVP+MWA 组的骨水泥外渗率（12.5% vs 38.5%，P=0.037）和肿瘤复发率（8.3% vs 30.8%，P=0.048）均低于PVP 组。结论 经皮穿刺椎体成形术单独或联合微波消融治疗腰椎转移瘤均可取得较好临床疗效，两者联合在减少骨水泥外渗及局部肿瘤控制中更有优势。      

Análisis del tratamiento del prolapso de órganos pélvicos mediante colposacropexia mínimamente invasiva con 24 horas de ingreso

ObjectivesThe objective of this study is to analyze the impact (in terms of safety and saving of hospital costs) of the implementation of a new protocol for the correction of pelvic organ prolapse (POP) by minimally invasive sacrocolpopexy (MISC) with 24-hour hospital stay.Material and methodsProspective observational study of the first 78 MISC procedures performed consecutively. 46 procedures (59%) were performed with 24-hour hospital stay, and 32 (41%) required more than 24 hours. The postoperative complications were determined for each group: visits to the Emergency Department, reoperations, and the average cost per procedure regarding hospital stay and ER visits. The cost model was established according to the data of the Analytical Accounting System of the Jiménez Díaz Foundation Hospital and of the Official State Gazette of Madrid.ResultsThere were no differences regarding intraoperative or postoperative complications between both groups. The number of visits to the Emergency Department, reinterventions or hospital re-admissions was lower in the 24-hour hospital stay group, without reaching statistical significance. The implementation of the MISC protocol with 24-hour hospital stay represented a saving of 607.91€ per procedure in hospital costs.ConclusionsCorrection of the POP with MISC with a 24-hour hospital discharge policy was feasible and safe in at least 59% of the patients, with similar complications, visits to the Emergency Department or hospital readmission rates.     

美国胃肠病协会关于急性胰腺炎胰腺坏死处理临床实践专家共识更新解读

美国胃肠病协会（AGA）于2019年8月在Gastroenterology（《胃肠病学》）杂志上发表了针对胰腺坏死处理的临床实践专家共识的更新，归纳并总结了当前的临床证据与专家意见，旨在为胰腺坏死这一复杂临床情况的最佳干预提供指导建议。近年来，随着临床实践的不断深入，急性胰腺炎胰腺坏死的处理经历了较大的变革。从一开始的以手术为主的清创策略过渡到现阶段较为成熟的升阶梯治疗模式。针对胰腺坏死的治疗主要包含两个方面：非手术治疗和有创干预。其中，非手术治疗主要包括抗菌治疗和营养支持等。一旦坏死组织发生感染或无菌性坏死使病人产生显著临床症状，提示有强烈干预指征时，此时更多地依赖于有创干预。升阶梯治疗模式的主要内容为：以经皮引流或透壁内镜引流为首要手段，对于引流无法处理的大量固体坏死，可进行经皮微创或经内镜下坏死清除，若微创手段干预无效可进行开放手术清创。关于选择经皮微创阶梯治疗还是经内镜阶梯治疗，目前尚无研究显示两者之间对病死率等主要临床结局产生影响，不同治疗中心可根据各中心的专业特长和医疗资源，合理选择治疗方案。     

Early onset scoliosis and current treatment methods

ObjectiveProvide an update of the management options for early onset scoliosis patients, including general assessment, conservative and surgical options.MethodsWe included the updated information about the assessment and management options of Early Onset Scoliosis, taking into consideration the non-fusion methods, including the burden on the patient and their family.ResultsWith the heterogeneity of this population, it is difficult to get a consensus about a unified protocol for management. Accordingly, the surgeon dealing with these cases needs to be aware of the broad range of surgical and non-surgical methods when treating these patients.ConclusionThe main aim of early onset scoliosis treatment is to gain a flexible spine associated with normal lung development and thoracic growth. Management needs to be individualized between the surgeon and patient in relation to the etiology and patient conditions.