张震宇

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27 8月 2019

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Author : 伤口世界

擅长糖尿病足治疗广东药科大学附属第三医院内分泌科主任医师

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Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophyeepispadias complex 2026-09-16 00:00

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.
W. Hardy Hendren, III, M.D., A personal perspective 2026-09-15 00:00
负压封闭引流技术在创面修复应用的专家共识（2025版） 2026-09-14 00:00

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

Expert consensus on the application of negative pressure wound therapy in wound repair （2025 Edition）

Alliance for Standardized Construction of Chronic Wound Care and Rehabilitation in the Greater Bay Area， Editorial Committee of China Sciencepaper： Superficial Systems Surgery Volume， HUANG Guangtao¹， WU Jun¹， HUAN Jingning^1，2

（1. Department of Burn and Plastic Surgery， The First Affiliated Hospital of Shenzhen University （Shenzhen Second People’s Hospital）， Shenzhen， Guangdong 518000， China；2. Department of Burn， Plastic Surgery and Wound Repair， Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine， Shanghai 200011， China）

Abstract：Since the publication of the first domestic expert consensus on the application of negative pressure wound therapy （NPWT） in burn surgery in 2017， both the types of techniques and the scope of clinical applica⁃tions have significantly expanded. In particular， a substantial body of high-quality evidence has accumulated regarding its role in promoting the healing of various acute and chronic wounds and in preventing surgical site infections. To integrate the latest research findings and clinical experience both domestically and internationally，standardize operational protocols， and enhance treatment efficacy， a multidisciplinary group of domestic experts in wound repair jointly developed this updated consensus. This consensus brings together insights from multiple domestic experts in wound-related multidisciplinary fields， incorporates the latest research advances， adheres to rigorous evidence-based medicine principles， and employs systematic review methodology. It focuses on core issues related to NPWT， including technical classifications， indications， parameter optimization， and complica⁃tion management. The working group systematically searched relevant literature in databases including PubMed，Web of Science， IEEE Xplore， and the China National Knowledge Infrastructure （CNKI） published between 2015 and 2025， retrieving a total of 791 articles. After deduplication， screening， and applying inclusion criteria （clinical studies， randomized controlled trials， meta-analyses， and relevant consensus documents），210 articles were ultimately included for evidence synthesis and evaluation. This consensus aims to provide clinicians in wound repair-related disciplines with unified， actionable treatment protocols and technical standards based on the latest evidence. The content fully integrates the current status and needs of clinical practice in China， with the goal of promoting the rational， standardized， and efficient application of NPWT nationwide， ultimately benefiting a greater number of patients.

Keywords：negative pressure wound therapy； surgical site infection； wound repair； surgical incision complications

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主任医师、教授、博导，南方医科大学第三附属医院（广东省骨科医院）院长

张震宇

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主任医师、教授、博导，南方医科大学第三附属医院（广东省骨科医院）院长

张震宇

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