دورية أكاديمية
أعرض في EDS

Fanconi Anemia: Examining Guidelines for Testing All Patients with Hand Anomalies Using a Machine Learning Approach.

التفاصيل البيبلوغرافية
العنوان: Fanconi Anemia: Examining Guidelines for Testing All Patients with Hand Anomalies Using a Machine Learning Approach.
المؤلفون: Wallner C; Department of Plastic Surgery, Great Ormond Street Hospital, London WC1N 3JH, UK.; Department of Plastic and Hand Surgery, Burn Center Sarcoma Center, BG University Hospital Bergmannsheil Bochum, Ruhr University Bochum, 44789 Bochum, Germany., Hurst J; Department of Plastic Surgery, Great Ormond Street Hospital, London WC1N 3JH, UK., Behr B; Department of Plastic and Hand Surgery, Burn Center Sarcoma Center, BG University Hospital Bergmannsheil Bochum, Ruhr University Bochum, 44789 Bochum, Germany., Rony MAT; Department of Statistics, Noakhali Science and Technology University, Noakhali 3814, Bangladesh., Barabás A; Department of Plastic Surgery, Great Ormond Street Hospital, London WC1N 3JH, UK., Smith G; Department of Plastic Surgery, Great Ormond Street Hospital, London WC1N 3JH, UK.
المصدر: Children (Basel, Switzerland) [Children (Basel)] 2022 Jan 07; Vol. 9 (1). Date of Electronic Publication: 2022 Jan 07.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101648936 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9067 (Print) Linking ISSN: 22279067 NLM ISO Abbreviation: Children (Basel) Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI AG, [2014]-
مستخلص: Background: This study investigated the questionable necessity of genetic testing for Fanconi anemia in children with hand anomalies. The current UK guidelines suggest that every child with radial ray dysplasia or a thumb anomaly should undergo further cost intensive investigation for Fanconi anemia. In this study we reviewed the numbers of patients and referral patterns, as well as the financial and service provision implications UK guidelines provide.
Methods: Over three years, every patient with thumb or radial ray anomaly referred to our service was tested for Fanconi Anemia. CART Analysis and machine learning techniques using Waikato Environment for Knowledge Analysis were applied to evaluate single clinical features predicting Fanconi anemia.
Results: Youden Index and Predictive Summary Index (PSI) scores suggested no clinical significance of hand anomalies associated with Fanconi anemia. CART Analysis and attribute evaluation with Waikato Environment for Knowledge Analysis (WEKA) showed no single feature predictive for Fanconi anemia. Furthermore, none of the positive Fanconi anemia patients in this study had an isolated upper limb anomaly without presenting other features of Fanconi anemia.
Conclusion: As a conclusion, this study does not support Fanconi anemia testing for isolated hand abnormalities in the absence of other features associated with this blood disease.
References: Epidemiol Perspect Innov. 2006 Oct 05;3:11. (PMID: 17022816)
Cancer. 1950 Jan;3(1):32-5. (PMID: 15405679)
Br J Haematol. 2017 Jul;178(1):32-47. (PMID: 28474441)
Am J Hum Genet. 1994 Apr;54(4):595-601. (PMID: 8128956)
Blood. 2003 Feb 15;101(4):1249-56. (PMID: 12393516)
Pediatr Ann. 2015 Oct;44(10):444-5, 448, 450 passim. (PMID: 26473424)
Blood. 2000 Dec 15;96(13):4064-70. (PMID: 11110674)
J Natl Cancer Inst. 2008 Nov 19;100(22):1649-53. (PMID: 19001603)
Clin Genet. 2015 Jul;88(1):13-24. (PMID: 25307146)
Blood. 1994 Sep 1;84(5):1650-5. (PMID: 8068955)
Cell. 2020 Apr 2;181(1):92-101. (PMID: 32243801)
Cancer. 2003 Jan 15;97(2):425-40. (PMID: 12518367)
معلومات مُعتمدة: F946N3-2020 Ruhr University Bochum
فهرسة مساهمة: Keywords: Fanconi; hand surgery; pediatric malformation
تواريخ الأحداث: Date Created: 20220121 Latest Revision: 20220128
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC8774393
DOI: 10.3390/children9010085
PMID: 35053710
قاعدة البيانات: MEDLINE
الوصف
تدمد:2227-9067
DOI:10.3390/children9010085