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建立儿科发育性髋关节发育不良生物库:上海儿童医学中心经验。

Establishment of pediatric developmental dysplasia of the hip biobank: Shanghai children's hospital experience.

机构信息

Department of Orthopedics, Shanghai Children's Hospital, Shanghai Jiao Tong University, 355 Lane Luding Rd, Putuo District, Shanghai, 200062, People's Republic of China.

NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, People's Republic of China.

出版信息

Cell Tissue Bank. 2022 Sep;23(3):581-590. doi: 10.1007/s10561-022-09995-3. Epub 2022 Feb 25.

Abstract

Developmental dysplasia of the hip (DDH) is a debilitating condition that affects 1-7% of newborns. Children with DDH, not treated early and effectively, will easily lead to disability. A better understanding of the biology of DDH is critical to the development of prognostic biomarkers and novel therapies. The purpose of this study was to establish a biobank of DDH genetic resources, to facilitate clinical and basic scientific research. The biological specimen and clinical data of DDH were collected in Shanghai Children's Hospital from 2014 to 2021. The collection of blood samples was performed at definitive diagnosis and review, tissue specimens were performed at definitive surgery. The clinical data was collected at the whole stage of DDH patients at diagnosis, treatment and follow-up. A total of 528 patients with DDH were enrolled in this study, 90 were men and 438 were women, with the mean age of 4.67 years. The numbers of tissue and blood specimens reached 2172 and 1490, respectively. The quality test results showed that the DNA concentration decreased slightly with the extension of storage time, but the DNA purity did not change. Meanwhile, the extension of storage time slightly affected the stability of protein of tissue samples but did not affect the expression of the housekeeping gene. The DDH biobank built has the potential of monitoring disease pathogenesis and progress, which could provide specimens to the researchers improving the biological understanding and provide guidance of clinical treatment of this disease to clinicians.

摘要

发育性髋关节发育不良(DDH)是一种致残性疾病,影响 1-7%的新生儿。未经早期和有效治疗的 DDH 患儿,容易导致残疾。更好地了解 DDH 的生物学特性,对于开发预后生物标志物和新型疗法至关重要。本研究旨在建立 DDH 遗传资源生物库,以促进临床和基础科学研究。2014 年至 2021 年,在上海儿童医学中心收集 DDH 的生物标本和临床数据。在明确诊断和复查时采集血样,在明确手术时采集组织标本。在 DDH 患者的诊断、治疗和随访的整个阶段收集临床数据。本研究共纳入 528 例 DDH 患者,其中男性 90 例,女性 438 例,平均年龄 4.67 岁。组织和血液标本数量分别达到 2172 份和 1490 份。质量检测结果表明,DNA 浓度随储存时间的延长略有下降,但 DNA 纯度没有变化。同时,储存时间的延长对组织样本中蛋白质的稳定性略有影响,但不影响管家基因的表达。所构建的 DDH 生物库具有监测疾病发病机制和进展的潜力,可为研究人员提供改善对该疾病的生物学认识的标本,并为临床医生提供该疾病的临床治疗指导。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8866/9371995/7f39ab6b431d/10561_2022_9995_Fig1_HTML.jpg

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