{"title":"遗传在特发性CTEV复发中的作用:一项系统综述。","authors":"Hilmi Muhammad, Sofia Mubarika Haryana, Rahadyan Magetsari, Aryadi Kurniawan, Bima Baikuni, Paramita Ayu Saraswati","doi":"10.2147/ORR.S400243","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong><i>Congenital Talipes Equinovarus</i> (CTEV) is a multitude of deformities involving <i>equinus, varus, adductus</i>, and <i>cavus</i> 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.</p><p><strong>Aim: </strong>To systematically review existing literature regarding the discovery of genetic involvement in recurrent ICTEV to date to further understand the etiology of relapse.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Discussion: </strong>With included studies of less than five, we could not perform other forms of analysis apart from qualitatively.</p><p><strong>Conclusion: </strong>The rarity of literature exploring the genetic etiology of recurrent ICTEV cases has been reflected in this systematic review, giving opportunities for future research.</p>","PeriodicalId":19608,"journal":{"name":"Orthopedic Research and Reviews","volume":"15 ","pages":"19-25"},"PeriodicalIF":1.7000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/91/25/orr-15-19.PMC10010973.pdf","citationCount":"0","resultStr":"{\"title\":\"Genetic Role in Recurrence of Idiopathic CTEV: A Systematic Review.\",\"authors\":\"Hilmi Muhammad, Sofia Mubarika Haryana, Rahadyan Magetsari, Aryadi Kurniawan, Bima Baikuni, Paramita Ayu Saraswati\",\"doi\":\"10.2147/ORR.S400243\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong><i>Congenital Talipes Equinovarus</i> (CTEV) is a multitude of deformities involving <i>equinus, varus, adductus</i>, and <i>cavus</i> 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.</p><p><strong>Aim: </strong>To systematically review existing literature regarding the discovery of genetic involvement in recurrent ICTEV to date to further understand the etiology of relapse.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Discussion: </strong>With included studies of less than five, we could not perform other forms of analysis apart from qualitatively.</p><p><strong>Conclusion: </strong>The rarity of literature exploring the genetic etiology of recurrent ICTEV cases has been reflected in this systematic review, giving opportunities for future research.</p>\",\"PeriodicalId\":19608,\"journal\":{\"name\":\"Orthopedic Research and Reviews\",\"volume\":\"15 \",\"pages\":\"19-25\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/91/25/orr-15-19.PMC10010973.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Orthopedic Research and Reviews\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2147/ORR.S400243\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ORTHOPEDICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Orthopedic Research and Reviews","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2147/ORR.S400243","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ORTHOPEDICS","Score":null,"Total":0}
Genetic Role in Recurrence of Idiopathic CTEV: A Systematic Review.
Background: Congenital Talipes Equinovarus (CTEV) is a multitude of deformities involving equinus, varus, adductus, and cavus 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.
期刊介绍：
Orthopedic Research and Reviews is an international, peer-reviewed, open-access journal focusing on the patho-physiology of the musculoskeletal system, trauma, surgery and other corrective interventions to restore mobility and function. Advances in new technologies, materials, techniques and pharmacological agents will be particularly welcome. Specific topics covered in the journal include: Patho-physiology and bioengineering, Technologies and materials science, Surgical techniques, including robotics, Trauma management and care, Treatment including pharmacological and non-pharmacological, Rehabilitation and Multidisciplinarian care approaches, Patient quality of life, satisfaction and preference, Health economic evaluations. The journal welcomes submitted papers covering original research, basic science and technology, clinical studies, reviews and evaluations, guidelines, expert opinion and commentary, case reports and extended reports.
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