Navegação Ciências Biológicas por Autor "Faccini, Lavinia Schuler"
Resultados 1-20 de 80
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Anomalias congênitas na perspectiva da vigilância em saúde : compilação de uma lista com base na CID-10
(2020) [Artigo de periódico]Objetivo: Propor uma lista de anomalias congênitas com códigos correspondentes na Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde – 10ª Revisão (CID-10), visando a aplicação no âmbito ... -
Aprosopia/holoprosencephaly in a stillborn puppy: when the face predicts the brain
(2021) [Artigo de periódico]In a litter of three puppies, one was stillborn and had facial and brain defects. Fusion of the maxilla and mandible and absence of the face were observed. The forebrain (telencephalon and the diencephalon) was reduced in ... -
Assessment of fetal risk associated with exposure to cancer chemotherapy during pregnancy : a multicenter study
(2001) [Artigo de periódico]The objective of the present study was to evaluate and quantify fetal risks involved in the administration of cancer chemotherapy during gestation, as well as to assess the long-term effects on the exposed children. In ... -
Association between Genetic Variants in NOS2 and TNF Genes with Congenital Zika Syndrome and Severe Microcephaly
(2021) [Artigo de periódico]Zika virus (ZIKV) causes Congenital Zika Syndrome (CZS) in individuals exposed prenatally. Here, we investigated polymorphisms in VEGFA, PTGS2, NOS3, TNF, and NOS2 genes as risk factors to CZS. Forty children with CZS and ... -
Avaliação de teratógenos potenciais na população brasileira : a experiência do Sistema Nacional de Informação sobre Agentes Teratogênicos (SIAT)
(2001) [Artigo de periódico]O Sistema Nacional de Informações sobre Agentes Teratogênicos (SIAT) foi implantado em Porto Alegre, Rio Grande do Sul, em 1990, com a proposta de fornecer a médicos e à população em geral informações rápidas e atualizadas ... -
Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer
(2020) [Artigo de periódico]In Brazil, the population in general has little knowledge about genetic risks, as well as regarding the role and importance of the Cancer Genetic Counseling (CGC). The goal of this study was to evaluate cancer-related worry ... -
Classification algorithm for congenital Zika Syndrome: characterizations, diagnosis and validation
(2021) [Artigo de periódico]Zika virus was responsible for the microcephaly epidemic in Brazil which began in October 2015 and brought great challenges to the scientific community and health professionals in terms of diagnosis and classification. Due ... -
Clinical and molecular characterization of a brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations
(2015) [Artigo de periódico]Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate ... -
Clinical genetics and public policies : how should rare diseases be managed?
(2014) [Artigo de periódico]The implementation of a specific policy for rare diseases in the Brazilian Unified Health System presents challenges in terms of its rationale. Recognizing the importance of rarity in the context of public health means ... -
Comparative genomics identifies putative interspecies mechanisms underlying crbn-sall4-linked thalidomide embryopathy
(2021) [Artigo de periódico]The identification of thalidomide–Cereblon-induced SALL4 degradation has brought new understanding for thalidomide embryopathy (TE) differences across species. Some questions, however, regarding species variability, still ... -
COVID-19 during pregnancy and adverse outcomes : concerns and recommendations from The Brazilian Teratology Information Service
(2021) [Artigo de periódico]SARS-CoV-2 virus was first identified in the beginning of 2020 and has spread all over the world, causing the Coronavirus Disease 2019 (COVID-19) pandemic. The virus is a member of the Coronavirus family, which includes ... -
CRL4-Cereblon complex in Thalidomide Embryopathy : a translational investigation
(2020) [Artigo de periódico]The Cereblon-CRL4 complex has been studied predominantly with regards to thalidomide treatment of multiple myeloma. Nevertheless, the role of Cereblon-CRL4 in Thalidomide Embryopathy (TE) is still not understood. Not all ... -
Decifrando o “mistério dos gêmeos” : Vinte anos de pesquisa em Cândido Godói, Rio Grande do Sul
(2019) [Artigo de periódico]Cândido Godói (CG) é um pequeno município brasileiro localizado no noroeste do Rio Grande do Sul e é conhecido como “Cidade dos Gêmeos” devido à alta taxa de nascimentos gemelares na região. Diante de um fato tão notável, ... -
Defeitos congênitos em uma região de mineração de carvão
(2001) [Artigo de periódico]Objetivo Avaliar a relação entre o impacto ambiental decorrente da extração de carvão e sua repercussão na saúde reprodutiva de uma população, residente em pequenas cidades do Sul do Brasil, pela observação da freqüência ... -
Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care
(2009) [Artigo de periódico]Background: Breast cancer is a significant public health problem worldwide and the development of tools to identify individuals at-risk for hereditary breast cancer syndromes, where specific interventions can be proposed ... -
A DNA repair variant in POLQ (c.-1060A > G) is associated to hereditary breast cancer patients : a case-control study
(2014) [Artigo de periódico]Background: One of the hallmarks of cancer is the occurrence of high levels of chromosomal rearrangements as a result of inaccurate repair of double-strand breaks (DSB). Germline mutations in BRCA and RAD51 genes, involved ... -
Epidemiological profile of 39 cases of microcephaly caused by congenital infections diagnosed in the state of Rio Grande do Sul between 2015-2017
(2019) [Artigo de periódico]Introduction: Microcephaly is a clinical finding that can arise from congenital anomalies or emerge after childbirth. Maternal infections acquired during pregnancy can result in characteristic brain damage in the newborn ... -
Epidemiological surveillance of birth defects compatible with thalidomide embryopathy in Brazil
(2011) [Artigo de periódico]The thalidomide tragedy of the 1960s resulted in thousands of children being born with severe limb reduction defects (LRD), among other malformations. In Brazil, there are still babies born with thalidomide embryopathy ... -
Epidemiological surveillance of birth defects compatible with thalidomide embryopathy in Brazil
(2011) [Artigo de periódico]The thalidomide tragedy of the 1960s resulted in thousands of children being born with severe limb reduction defects (LRD), among other malformations. In Brazil, there are still babies born with thalidomide embryopathy ...
