Epidemiological Analysis and the Nomogram for Possible Risk Factors for Severe Microtia.


Journal

The Journal of craniofacial surgery
ISSN: 1536-3732
Titre abrégé: J Craniofac Surg
Pays: United States
ID NLM: 9010410

Informations de publication

Date de publication:
Historique:
entrez: 11 3 2021
pubmed: 12 3 2021
medline: 24 6 2021
Statut: ppublish

Résumé

Microtia is a severe congenital malformation of the external ear. This study aimed to explore the epidemiologic characteristics and the possible risk factors in patients with severe microtia in China, and integrate significant variables into a predictive nomogram. A total of 965 patients with microtia were included. This retrospective case study was conducted from July 2014 to July 2019 at Plastic Surgery Hospital in China. The detailed questionnaires concerning potential risk factors were completed and data were gathered. Chi-Square and Fisher tests were used to analyze the variables, and a multivariate logistic regression model was used to select variables related to severe microtia, and then construct a nomogram. The nomogram model was evaluated by the concordance index (C-index), calibration plot, and receiver operating characteristics (ROCs) curve. Bootstraps with 1000 resamples were applied to these analyses. Of the 965 microtia patients, 629 (65.2%) were male and 867 (89.8%) were sporadic. The cases were observed more commonly in unilateral (83.1%) and right-sided (52.0%). And multiple malformations were observed in 392 (40.6%) cases. Multivariate logistic regression analysis showed that maternal age, miscarriage frequency, virus infection, anemia, using progesterone, paternal alcohol intake, and topography of living areas were associated with a higher risk of severe microtia. All the significant variables were combined into a predictive nomogram (C-index = 0.755,95% CI = 0.703-0.807). Higher prediction accuracy (adjusted C-index = 0.749) was further verified via bootstrap validation. The calibration plot showed good performance, and the ROCs curve analysis demonstrated high sensitivity and specificity. Most microtia patients are male, sporadic, and accompanied by other malformations, which are similar to the phenotypic analysis results of other studies. A nomogram predicting severe microtia was constructed to provide scientific guidance for individualized prevention in clinical practice.

Sections du résumé

BACKGROUND BACKGROUND
Microtia is a severe congenital malformation of the external ear. This study aimed to explore the epidemiologic characteristics and the possible risk factors in patients with severe microtia in China, and integrate significant variables into a predictive nomogram.
METHODS METHODS
A total of 965 patients with microtia were included. This retrospective case study was conducted from July 2014 to July 2019 at Plastic Surgery Hospital in China. The detailed questionnaires concerning potential risk factors were completed and data were gathered. Chi-Square and Fisher tests were used to analyze the variables, and a multivariate logistic regression model was used to select variables related to severe microtia, and then construct a nomogram. The nomogram model was evaluated by the concordance index (C-index), calibration plot, and receiver operating characteristics (ROCs) curve. Bootstraps with 1000 resamples were applied to these analyses.
RESULTS RESULTS
Of the 965 microtia patients, 629 (65.2%) were male and 867 (89.8%) were sporadic. The cases were observed more commonly in unilateral (83.1%) and right-sided (52.0%). And multiple malformations were observed in 392 (40.6%) cases. Multivariate logistic regression analysis showed that maternal age, miscarriage frequency, virus infection, anemia, using progesterone, paternal alcohol intake, and topography of living areas were associated with a higher risk of severe microtia. All the significant variables were combined into a predictive nomogram (C-index = 0.755,95% CI = 0.703-0.807). Higher prediction accuracy (adjusted C-index = 0.749) was further verified via bootstrap validation. The calibration plot showed good performance, and the ROCs curve analysis demonstrated high sensitivity and specificity.
CONCLUSIONS CONCLUSIONS
Most microtia patients are male, sporadic, and accompanied by other malformations, which are similar to the phenotypic analysis results of other studies. A nomogram predicting severe microtia was constructed to provide scientific guidance for individualized prevention in clinical practice.

Identifiants

pubmed: 33705069
doi: 10.1097/SCS.0000000000007068
pii: 00001665-202104000-00118
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e184-e189

Informations de copyright

Copyright © 2020 by Mutaz B. Habal, MD.

Déclaration de conflit d'intérêts

This study was sponsored by National Natural Science Foundation of China (no. 81571924, 81701930). The authors have no conflicts of interest to declare.

Références

Poswillo D. The pathogenesis of the first and second branchial arch syndrome. Oral Surg Oral Med Oral Pathol 1973; 35:302–328.
Patil AR, Bhalla A, Gupta P, et al. HRCT evaluation of microtia: A retrospective study. Indian J Radiol Imaging 2012; 22:188–194.
Luquetti DV, Heike CL, Hing AV, et al. Microtia: epidemiology and genetics. Am J Med Genet A 2012; 158A:124–139.
Deng K, Dai L, Yi L, et al. Epidemiologic characteristics and time trend in the prevalence of anotia and microtia in China. Birth Defects Res A Clin Mol Teratol 2016; 106:88–94.
Castilla EE, Orioli IM. Prevalence rates of microtia in South America. Int J Epidemiol 1986; 15:364–368.
Forrester MB, Merz RD. Descriptive epidemiology of anotia and microtia, Hawaii, 1986-2002. Congenit Anom (Kyoto) 2005; 45:119–124.
Harris J, Kallen B, Robert E. The epidemiology of anotia and microtia. J Med Genet 1996; 33:809–813.
Shaw GM, Carmichael SL, Kaidarova Z, et al. Epidemiologic characteristics of anotia and microtia in California, 1989-1997. Birth Defects Res A Clin Mol Teratol 2004; 70:472–475.
Mastroiacovo P, Corchia C, Botto LD, et al. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J Med Genet 1995; 32:453–457.
Suutarla S, Rautio J, Ritvanen A, et al. Microtia in Finland: comparison of characteristics in different populations. Int J Pediatr Otorhinolaryngol 2007; 71:1211–1217.
Lee KT, Yang EJ, Lim SY, et al. Association of congenital microtia with environmental risk factors in South Korea. Int J Pediatr Otorhinolaryngol 2012; 76:357–361.
Castilla EE, Lopez-Camelo JS, Campana H. Altitude as a risk factor for congenital anomalies. Am J Med Genet 1999; 86:9–14.
Husain T, Langlois PH, Sever LE, et al. Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996-2002. Birth Defects Res A Clin Mol Teratol 2008; 82:435–440.
Wu J, Zhang R, Zhang Q, et al. Epidemiological analysis of microtia: a retrospective study in 345 patients in China. Int J Pediatr Otorhinolaryngol 2010; 74:275–278.
Ishimoto S, Ito K, Yamasoba T, et al. Correlation between microtia and temporal bone malformation evaluated using grading systems. Arch Otolaryngol Head Neck Surg 2005; 131:326–329.
General Assembly of the World Medical A. World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects. J Am Coll Dent 2014; 81:14–18.
Yamauchi M, Yotsuyanagi T, Ikeda K, et al. Clinical and genetic analysis of microtia in Japan. J Plast Surg Hand Surg 2012; 46:330–334.
Barisic I, Odak L, Loane M, et al. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. Eur J Hum Genet 2014; 22:1026–1033.
Luquetti DV, Cox TC, Lopez-Camelo J, et al. Preferential associated anomalies in 818 cases of microtia in South America. Am J Med Genet A 2013; 161A:1051–1057.
Paput L, Czeizel AE, Banhidy F. Possible multifactorial etiology of isolated microtia/anotia--a population-based study. Int J Pediatr Otorhinolaryngol 2012; 76:374–378.
Canfield MA, Langlois PH, Nguyen LM, et al. Epidemiologic features and clinical subgroups of anotia/microtia in Texas. Birth Defects Res A Clin Mol Teratol 2009; 85:905–913.
Llano-Rivas I, Gonzalez-del Angel A, del Castillo V, et al. Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City. Arch Med Res 1999; 30:120–124.
Klockars T, Suutarla S, Kentala E, et al. Inheritance of microtia in the Finnish population. Int J Pediatr Otorhinolaryngol 2007; 71:1783–1788.
Li CL, Chen Y, Shan J, et al. Phenotypic characterization and risk factors for microtia in East China, a case-control study. Int J Pediatr Otorhinolaryngol 2014; 78:2060–2063.
Tasse C, Bohringer S, Fischer S, et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet 2005; 48:397–411.
Fuchs JC, Tucker AS. Development and Integration of the Ear. Curr Top Dev Biol 2015; 115:213–232.
Fan ZP, Du J, Liu HM, et al. Localization of the pathogenic gene of accessory fagus phenotype in a Chinese Han family. Beijing Kouqiang Yixue 2010; 18:249–252.
Stoll C, Alembik Y, Dott B, et al. Associated anomalies in cases with anotia and microtia. Eur J Med Genet 2016; 59:607–614.
Alasti F, Van Camp G. Genetics of microtia and associated syndromes. J Med Genet 2009; 46:361–369.
Artunduaga MA, Quintanilla-Dieck Mde L, Greenway S, et al. A classic twin study of external ear malformations, including microtia. N Engl J Med 2009; 361:1216–1218.
Monks DC, Jahangir A, Shanske AL, et al. Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia. Int J Pediatr Otorhinolaryngol 2010; 74:878–882.
Lin L, Pan B, Jiang H, et al. Mutational analysis of PACT gene in Chinese patients with microtia. Am J Med Genet A 2011; 155A:906–910.
Sever T, Buyukgural B, Pehlivan S, et al. No association between DNA repair gene (XPD, XRCC1, and XRCC4) polymorphisms and nonsyndromic microtia in Turkish patients. Plast Reconstr Surg 2011; 128:75e–76e.
Balachandran VP, Gonen M, Smith JJ, et al. Nomograms in oncology: more than meets the eye. Lancet Oncol 2015; 16:e173–e180.
Sun Y, Che Y, Gao E, et al. Induced abortion and risk of subsequent miscarriage. Int J Epidemiol 2003; 32:449–454.
Jones KL, Johnson KA, Chambers CD. Offspring of women infected with varicella during pregnancy: a prospective study. Teratology 1994; 49:29–32.
Bartel-Friedrich S. Congenital auricular malformations: description of anomalies and syndromes. Facial Plast Surg 2015; 31:567–580.
Wei X, Makori N, Peterson PE, et al. Pathogenesis of retinoic acid-induced ear malformations in primate model. Teratology 1999; 60:83–92.
Okajima H, Takeichi Y, Umeda K, et al. Clinical analysis of 592 patients with microtia. Acta Otolaryngol Suppl 1996; 525:18–24.
Di Renzo GC, Mattei A, Gojnic M, et al. Progesterone and pregnancy. Curr Opin Obstet Gynecol 2005; 17:598–600.
Luquetti DV, Saltzman BS, Lopez-Camelo J, et al. Risk factors and demographics for microtia in South America: a case-control analysis. Birth Defects Res A Clin Mol Teratol 2013; 97:736–743.
Johnston MC, Bronsky PT. Prenatal craniofacial development: new insights on normal and abnormal mechanisms. Crit Rev Oral Biol Med 1995; 6:25–79.
Zamudio S, Baumann MU, Illsley NP. Effects of chronic hypoxia in vivo on the expression of human placental glucose transporters. Placenta 2006; 27:49–55.
Niermeyer S, Andrade Mollinedo P, Huicho L. Child health and living at high altitude. Arch Dis Child 2009; 94:806–811.
Cook JD, Boy E, Flowers C, et al. The influence of high-altitude living on body iron. Blood 2005; 106:1441–1446.

Auteurs

Rui Guo (R)

Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Thirty-three Badachu Road, Shijingshan District.

Bingqing Wang (B)

Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Thirty-three Badachu Road, Shijingshan District.

Yue Wang (Y)

Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Thirty-three Badachu Road, Shijingshan District.

Yongbiao Zhang (Y)

Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, Beihang University, Beijing, China.

Tun Liu (T)

Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Thirty-three Badachu Road, Shijingshan District.

Qingguo Zhang (Q)

Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Thirty-three Badachu Road, Shijingshan District.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH