伤口世界
- 星期三, 16 9月 2026
Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophyeepispadias complex
Glenda M. Beaman a,b, Adrian S. Woolf c,d, Filipa M. Lopes c, Shuang Andrew Guo e,f,g, J. Robert Harkness a,b, Raimondo M. Cervellione d, David Keene d, Imran Mushtaq h, Menna R. Clatworthy f,g,h, William G. Newman a,b,*
Summary
Introduction
Bladder exstrophyeepispadias complex (BEEC) comprises a spectrum of anterior midline congenital malformations, involving the lower urinary tract. BEEC is usually sporadic, but families with more than one affected member have been reported, and a twin concordance study supported a genetic contribution to pathogenesis. Moreover, diverse chromosomal aberrations have been reported in a small subset of individuals with BEEC. The commonest are 22q11.2 microduplications, identified in approximately 3% of BEEC index cases.
Objectives
We aimed to refine the chromosome 22q11.2 locus, and to determine whether the encompassed genes are expressed in normal developing and mature human urinary bladders.
Results
Using DNA from an individual with CBE, the 22q11.2 duplicated locus was refined by identification of a maternally inherited 314 kb duplication (chr22:21,147,293e21,461,017), as depicted in this image. Moreover, the eight protein coding genes within the locus were found to be expressed during normal developing and mature bladders. To determine whether duplications in any of these individual genes were associated with CBE, we undertook copy number analyses in 115 individuals with CBE without duplications of the whole locus. No duplications of individual genes were found.
Discussion
The current study has refined the22q11.2locus associated with BEEC and has shown that the eight protein coding genes are expressed in human bladders both during antenatal development and postnatally. Nevertheless, the precise biological explanation as to why duplication of the phenocritical region of22q11 confers increased susceptibility to BEEC remains to be determined. The fact that individuals with CBE without duplications of the whole locus also lacked duplication of any of the individual genes suggests that in individuals with BEEC and duplication of the 22q11.2 locus altered dosage of more than one gene may be important in BEEC etiology.
Conclusions
The study has refined the 22q11.2 locus associated with BEEC and has shown that the eight protein coding genes within this locus are expressed in human bladders.
- 星期二, 15 9月 2026
W. Hardy Hendren, III, M.D., A personal perspective
- 星期一, 14 9月 2026
负压封闭引流技术在创面修复应用的专家共识(2025版)
大湾区慢性创面医护康标准化体系建设联盟,《中国科技论文》体表外科卷编辑委员会,黄广涛1,吴 军1,郇京宁1,2
(1.深圳大学第一附属医院(深圳市第二人民医院)烧伤整形科,广东深圳518000;2.上海交通大学医学院附属瑞金医院烧伤整形与创面修复科,上海200011)
摘要:负压封闭引流技术(negative pressure wound therapy, NPWT)自2017年国内首部烧伤外科应用专家共识发布以来,其技术类型与临床应用范围均取得了显著拓展。特别是在促进各类急慢性创面愈合及预防外科手术部位感染方面,已累积了大量高质量循证证据。为整合国内外最新研究成果与临床实践经验,规范操作标准,提升治疗水平,国内创面修复相关多学科领域的专家共同撰写了本更新版共识。本共识汇聚了国内多位在创面相关的多学科领域的专家,结合国内外最新研究成果,遵循严谨的循证医学原则,采用系统综述方法,聚焦于NPWT的技术分类、适应症、参数优化及并发症处理等核心议题。工作小组系统检索了PubMed、Web of Science、IEEE Xplore及中国知网等数据库中2015—2025年相关文献,共获得791篇。经去重、筛选,并根据纳入标准(临床研究、随机对照试验、meta分析及相关共识等)最终纳入210篇文献进行证据综合与评价。本共识旨在为创面修复相关学科的临床医生提供基于最新证据、统一且可操作的治疗方案与技术规范。共识内容充分结合了我国临床实践的现状与需求,以期推动NPWT在国内的合理、规范及高效应用,最终惠及广大患者。
关键词:负压封闭引流技术;手术部位感染;创面修复;手术切口并发症
- 星期六, 12 9月 2026
Robotic retroperitoneal lymphadenectomy in paratesticular rhabdomyosarcoma
Yesica Y. Quiroz 1 , Enver Moncada 2 , Erika Llorens 3 , Ivan Schwartzmann 4 , Jorge Caffarati 5 , Anna Bujons *
Summary
Introduction
Paratesticular sarcoma is an aggressive malignant tumor of mesenchymal origin. The rhabdo-myosarcoma is the most common among children. Rhabdomyosarcoma treatment consists of surgery, chemotherapy and radiotherapy. Prognosic depends on local recurrence and distant metastasis.
Material and methods
We present the case of a 16-year-old male, who in April 2016 underwent right radical orchiectomy surgery by testicular mass rapidly evolving, with pathological results indicating a paratesticular rhabdomyosarcoma. The extension study showed a precaval adenopathy suggestive of lymph node metastasis, therefore it was a high-grade rhabdomyosarcoma. There was an appropriate response after chemotherapy (Protocol EpSSG RMS2005) and we decided to perform a robotic.
Results
We performed a transperitoneal approach with 8 mm trocar and 12 mm optica trocar. We accessed the retroperitoneal space through a latero-colic incision. Then we performed a craniocaudal lymph node dissection until the aortic bifurcation. The surgical time was 240 min with a blood loss of 200 ml. There were no complications. The patient was discharged on the fourth day after surgery. Pathology showed metastasis of rhabdomyosarcoma without capsular rupture. After two months, we placed the left testicle into inguinal canal prior to radiotherapy.
Conclusions
Robotic lymph node metastasis lymphadenectomy from paratesticular sarcomas is a feasible treatment with the advantage of minimally invasive surgery and acceptable morbidity.
- 星期五, 11 9月 2026
Robotic-assisted laparoscopic repair of a congenital rectourethral fistula with duplicated urethra
Rohan G. Bhalla a , Belinda Li b,d, *, Mark C. Adams b , Wallace W. Neblett c , John C. Thomas b
Summary
Objective
To describe our experience with robot-assisted laparoscopic transperitoneal repair of a congenital rectourethral fistula in a pediatric patient with a urethral duplication.
Methods
The patient is a 2-year-old male with a past medical history of Tetralogy of Fallot presenting with a febrile urinary tract infection (UTI). He was diagnosed with urethral duplication and a rectourethral fistula by voiding cystourethrogram (VCUG). The parents were counseled on various options and agreed to proceed with a robotic repair.
Results
Robotic-assisted transperitoneal rectourethral fistula repair was performed. The procedure time was 229 min with an estimated blood loss (EBL) of 15 mL. His postoperative course was unremarkable. At his 2- week follow-up, the urethral catheter was removed and the patient was voiding normally and having normal bowel movements.
Conclusion
Congenital rectourethral fistula with urethral duplication is a rare anomaly with only a few reports in the literature. Pediatric robotic-assisted trans-peritoneal rectourethral fistula repair is a technically feasible approach in infants with minimal morbidity that allows for excellent visualization and avoids open repair.
- 星期四, 10 9月 2026
Complete diphallia: How to proceed?
Antonio Macedo Jr a,b , Se´rgio Leite Ottoni b , Paula Cartaxo Barros Camilato b , Hugo Santiago Crespo Ganchozo b , Gilmar Garrone b , Ricardo de Mattos Marcondes b , Marcela Leal da Cruz b, *
Summary
Introduction
Diphallia is a rare anomaly. It has a range of appearances from a small accessory penile to complete duplication.
Methods
We present a 2 year-old boy with complete penile duplication. The left penile was the largest. NMR (Nuclear Magnetic Resonance) suggested one corporal body for each penile and VCUG (Voiding Cystourethrogram) showed a normal urethra in the right penile and stricture at glandular and mid penile urethra of the left penis. A Y confluence to bulbar urethra was observed confirming only one prostate and bladder.
Results
The cystoscopy through the right penile identified the urethral confluence in the bulbar area. We performed a meatotomy in the left penile to insert the cystoscope and confirmed the blind ending urethra. We decided to remove this penile. The penile was degloved entirely and clamped and took out the corpora at the base.
Discussion
Diphallia can have three presentations: only glans duplication, bifid diphallia and complete diphallia (two corpora cavernosa and a corpus spongiosum for each penile). In our case, each penile presented only one corpora cavernosa and the decision taken was based on urethral patency.
Conclusion
The treatment should always be planned individually whereas associated anomalies with the goal of attaining satisfactory functional and cosmetic.
