为综合研究建立一个结构化的尿道下裂生物库队列:方法学、综合数据库集成和表型。

IF 3.8 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL Diagnostics Pub Date : 2025-02-26 DOI:10.3390/diagnostics15050561
Tariq O Abbas, Kholoud Al-Shafai, Asma Jamil, Maraeh Mancha, Amina Azzah, Seem Arar, Sushine Kumar, Alia Al Massih, Rafah Mackeh, Sara Tomei, Luis R Saraiva
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引用次数: 0

摘要

背景/目的:尿道下裂是男性常见的先天性异常,在诊断、治疗和长期护理方面具有重大挑战。尽管它很普遍,但由于缺乏将临床、表型和手术数据与生物样本联系起来的综合生物库队列,对这种疾病的研究受到了阻碍。本研究旨在建立尿道下裂生物库队列(HBC),这是一个综合性资源,旨在促进对尿道下裂病因的了解并改善患者预后。方法:HBC采用多阶段方法开发,在2022年4月至2024年9月期间从专科诊所招募参与者。生物样本(血液和组织)按照知情同意后的标准化方案收集。详细的临床数据,包括尿道下裂严重程度、相关异常和手术结果,被系统地记录并整合到一个强大的数据库中,以支持转化研究。结果:该队列包括了一组不同程度的尿道下裂患者,其中许多患者也表现出相关的异常。跟踪手术结果,揭示严重程度与术后并发症之间的重要相关性。初步的生物学分析确定了与尿道下裂严重程度和恢复相关的潜在生物标志物。这些结果的全部细节将在另一份出版物中发表。综合数据库不断更新纵向随访数据,支持未来的转化研究。结论:尿道下裂生物库队列代表了转化研究的开创性资源,为尿道下裂的临床和表型谱提供了前所未有的见解。通过使分类系统的细化和循证外科技术的发展,HBC有可能改变这种先天性疾病的管理。利用HBC的持续研究将进一步揭示临床表现、手术干预和患者预后之间复杂的相互作用,为个性化护理策略和改善长期结果铺平道路。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Establishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping.

Background/Objectives: Hypospadias, a common congenital anomaly in males, presents significant challenges in diagnosis, management, and long-term care. Despite its prevalence, research into the condition has been hampered by the lack of integrated biobank cohorts linking clinical, phenotypic, and surgical data with biological samples. This study aimed to establish the Hypospadias Biobank Cohort (HBC), a comprehensive resource designed to advance the understanding of hypospadias etiology and improve patient outcomes. Methods: The HBC was developed using a multi-phase approach, enrolling participants from specialized clinics between April 2022 and September 2024. Biological samples (blood and tissue) were collected under standardized protocols following informed consent. Detailed clinical data, including hypospadias severity, associated anomalies, and surgical outcomes, were systematically recorded and integrated into a robust database to support translational research. Results: The cohort included a diverse group of patients with varying severity of hypospadias, many of whom also presented with associated anomalies. Surgical outcomes were tracked, revealing important correlations between severity and postoperative complications. Preliminary biological analyses identified potential biomarkers associated with hypospadias severity and recovery. The full details of these results will be presented in a separate publication. The comprehensive database is continuously updated with longitudinal follow-up data, supporting future translational research. Conclusions: The Hypospadias Biobank Cohort represents a groundbreaking resource for translational research, offering unprecedented insights into the clinical and phenotypic spectrum of hypospadias. By enabling the refinement of classification systems and the development of evidence-based surgical techniques, the HBC has the potential to transform the management of this congenital condition. Ongoing research leveraging the HBC will further unravel the complex interplay among clinical presentation, surgical interventions, and patient outcomes, paving the way for personalized care strategies and improved long-term results.

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来源期刊
Diagnostics
Diagnostics Biochemistry, Genetics and Molecular Biology-Clinical Biochemistry
CiteScore
4.70
自引率
8.30%
发文量
2699
审稿时长
19.64 days
期刊介绍: Diagnostics (ISSN 2075-4418) is an international scholarly open access journal on medical diagnostics. It publishes original research articles, reviews, communications and short notes on the research and development of medical diagnostics. There is no restriction on the length of the papers. Our aim is to encourage scientists to publish their experimental and theoretical research in as much detail as possible. Full experimental and/or methodological details must be provided for research articles.
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