Thayne Woycinck Kowalski1,2, Maria Teresa Vieira Sanseverino1,2,3, Lavinia Schuler-Faccini1,2,3, Fernanda Sales Luiz Vianna1,2,3,4. 1. PPGBM (Programa de Pós Graduação em Genética e Biologia Molecular), Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. 2. National Institute of Population Medical Genetics, INAGEMP, Porto Alegre, Brazil. 3. Teratogen Information Service, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil. 4. Programa de Pós Graduação em Epidemiologia, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Abstract
BACKGROUND: Thalidomide is a known teratogen and it is estimated that more than ten thousand babies were affected by thalidomide embryopathy (TE), which is characterized mainly by limb defects, but can involve many organs and systems. Most people with TE were only evaluated at birth and it is not well established if thalidomide exposure during embryonic development leads to later effects. We analyzed the clinical history of adults with TE to better understand this gap in the clinical findings of TE. METHODS: Brazilian individuals with TE were invited to answer a clinical questionnaire which considered family history, social information, medical history, and current clinical and psychological health status. A clinical examination was also performed, including on the infant subjects to evaluate congenital anomalies. The characterization of the features was analyzed using descriptive statistics and Chi-square or Fisher's exact test. RESULTS: The congenital anomalies caused by thalidomide were reviewed in 28 Brazilian individuals, and the questionnaire was applied to the 23 adult subjects with TE (aged 19 to 55). Progressive deafness and dental loss were reported. From the comparison of TE individuals with the general Brazilian population, the early onset of cardiovascular diseases (p = 0.009) and a higher frequency of psychological disorders (p = 0.011) were observed. CONCLUSION: Although there is no sufficient evidence that thalidomide exposure caused or worsened the described events, this approach helps to better understand the TE phenotype, improves the clinical diagnosis, and can lead to adequate health support for these individuals.
BACKGROUND:Thalidomide is a known teratogen and it is estimated that more than ten thousand babies were affected by thalidomideembryopathy (TE), which is characterized mainly by limb defects, but can involve many organs and systems. Most people with TE were only evaluated at birth and it is not well established if thalidomide exposure during embryonic development leads to later effects. We analyzed the clinical history of adults with TE to better understand this gap in the clinical findings of TE. METHODS: Brazilian individuals with TE were invited to answer a clinical questionnaire which considered family history, social information, medical history, and current clinical and psychological health status. A clinical examination was also performed, including on the infant subjects to evaluate congenital anomalies. The characterization of the features was analyzed using descriptive statistics and Chi-square or Fisher's exact test. RESULTS: The congenital anomalies caused by thalidomide were reviewed in 28 Brazilian individuals, and the questionnaire was applied to the 23 adult subjects with TE (aged 19 to 55). Progressive deafness and dental loss were reported. From the comparison of TE individuals with the general Brazilian population, the early onset of cardiovascular diseases (p = 0.009) and a higher frequency of psychological disorders (p = 0.011) were observed. CONCLUSION: Although there is no sufficient evidence that thalidomide exposure caused or worsened the described events, this approach helps to better understand the TE phenotype, improves the clinical diagnosis, and can lead to adequate health support for these individuals.
Authors: Alexander Niecke; Klaus Peters; Christina Samel; Kristin Forster; Markus Lüngen; Holger Pfaff; Christian Albus Journal: Dtsch Arztebl Int Date: 2017-03-10 Impact factor: 5.594
Authors: Lavinia Schüler-Faccini; Maria Teresa Vieira Sanseverino; Alberto Mantovani Abeche; Fernanda Sales Luiz Vianna; Lucas Rosa Fraga; Anastacia Guimaraes Rocha; André Anjos da Silva; Paulo Ricardo Assis de Souza; Artur Hartmann Hilgert; Camila Pocharski Barbosa; Caroline Grasso Kauppinem; Daniela Fernandes Martins; Daniela Silva Santos; Gabriel Henrique Colpes; Gabriela Ecco; Helena Margot Flores Soares da Silva; Louise Piva Penteado; Tatiane Dos Santos Journal: Genet Mol Biol Date: 2019-04-11 Impact factor: 1.771
Authors: Julia do Amaral Gomes; Thayne Woycinck Kowalski; Lucas Rosa Fraga; Gabriel S Macedo; Maria Teresa Vieira Sanseverino; Lavínia Schuler-Faccini; Fernanda Sales Luiz Vianna Journal: Sci Rep Date: 2019-08-06 Impact factor: 4.379