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遗传因素在特发性先天性马蹄内翻足复发中的作用:一项系统评价。

Genetic Role in Recurrence of Idiopathic CTEV: A Systematic Review.

作者信息

Muhammad Hilmi, Haryana Sofia Mubarika, Magetsari Rahadyan, Kurniawan Aryadi, Baikuni Bima, Saraswati Paramita Ayu

机构信息

Department of Surgery, Orthopaedics and Traumatology Division, Sardjito General Hospital, Yogyakarta, Indonesia.

Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.

出版信息

Orthop Res Rev. 2023 Mar 9;15:19-25. doi: 10.2147/ORR.S400243. eCollection 2023.

Abstract

BACKGROUND

(CTEV) is a multitude of deformities involving , and deformities. Clubfoot affects 1 in every 1000 infants born worldwide, with various incidences according to geographical areas. It has been previously hypothesized that the possible genetic role in Idiopathic CTEV (ICTEV) might have a treatment-resistant phenotype. However, the genetic involvement in recurrent ICTEV cases is yet to be determined.

AIM

To systematically review existing literature regarding the discovery of genetic involvement in recurrent ICTEV to date to further understand the etiology of relapse.

METHODS

A comprehensive search was performed on medical databases, and the review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines. A comprehensive search was performed on several medical databases: PubMed (MEDLINE), Scopus, the Cochrane Library, and European PMC on May 10, 2022. We included studies reporting patients with recurring idiopathic CTEV or CTEV of unknown cause after treatment, reporting whole-genetic sequencing, whole-exome sequencing, Polymerase Chain Reaction, or Western blot analysis as methods of genetic analysis (intervention) and providing results of idiopathic CTEV genetic involvement. Non-English studies, literature reviews, and irrelevant articles were excluded. Quality and risk of bias assessments were performed using Newcastle-Ottawa Quality Assessment Scale for non-randomized studies where appropriate. The authors discussed data extracted with the primary outcome of gene(s) frequency being reported of their involvement in recurrent ICTEV cases.

RESULTS

Three pieces of literature were included in this review. Two studies analyzed the genetic involvement in CTEV occurrence, while one analyzed the protein types found.

DISCUSSION

With included studies of less than five, we could not perform other forms of analysis apart from qualitatively.

CONCLUSION

The rarity of literature exploring the genetic etiology of recurrent ICTEV cases has been reflected in this systematic review, giving opportunities for future research.

摘要

背景

先天性马蹄内翻足(CTEV)是一种涉及多种畸形的疾病,包括足部畸形。全球每1000名出生的婴儿中就有1人受马蹄内翻足影响,不同地理区域的发病率各不相同。此前有假说认为,特发性先天性马蹄内翻足(ICTEV)可能存在的遗传因素可能导致治疗抵抗的表型。然而,复发性ICTEV病例中的遗传因素尚未确定。

目的

系统回顾迄今为止关于复发性ICTEV遗传因素发现的现有文献,以进一步了解复发的病因。

方法

在医学数据库中进行全面检索,并根据系统评价和Meta分析的首选报告项目(PRISMA)2020指南进行综述。于2022年5月10日在多个医学数据库进行了全面检索:PubMed(MEDLINE)、Scopus、Cochrane图书馆和欧洲PMC。我们纳入了报告治疗后复发性特发性CTEV或病因不明的CTEV患者的研究,这些研究报告了全基因组测序、全外显子组测序、聚合酶链反应或蛋白质印迹分析作为遗传分析(干预)方法,并提供了特发性CTEV遗传因素的结果。排除非英语研究、文献综述和无关文章。在适当情况下使用纽卡斯尔-渥太华非随机研究质量评估量表进行质量和偏倚风险评估。作者讨论了提取的数据,其主要结果是报告了基因频率与复发性ICTEV病例的相关性。

结果

本综述纳入了三篇文献。两项研究分析了CTEV发生中的遗传因素,一项研究分析了发现的蛋白质类型。

讨论

由于纳入的研究少于五项,我们除了定性分析外无法进行其他形式的分析。

结论

本系统评价反映了探索复发性ICTEV病例遗传病因的文献稀缺,为未来研究提供了机会。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f93/10010973/ecea42752687/ORR-15-19-g0001.jpg

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