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1.
Genes (Basel) ; 14(5)2023 05 16.
Artigo em Inglês | MEDLINE | ID: mdl-37239452

RESUMO

Several factors may increase the risk of development of ovarian cancer. In this study, we investigated the relationship between social, genetic, and histopathologic factors in women with ovarian serous cystadenocarcinoma and titin (TTN) mutations, whether the TTN gene mutation may be a predictor, and its impact on mortality and survival in these patients. A total of 585 samples from patients with ovarian serous cystadenocarcinoma were collected from The Cancer Genome Atlas and PanCancer Atlas through the cBioPortal for analysis of social, genetic, and histopathological factors. Logistic regression was used to investigate whether TTN mutation could be a predictor, and the Kaplan-Meier method was applied to analyze survival time. TTN mutation frequency did not differ between age at diagnosis, tumor stage, and race, and was related to increased Buffa hypoxia score (p = 0.004), mutation count (p < 0.0001), Winter hypoxia Score (p = 0.030), nonsynonymous tumor mutation burden (TMB) (p < 0.0001), and reduced microsatellite instability sensor score (p = 0.010). The number of mutations (p < 0.0001) and winter hypoxia score (p = 0.008) were positively associated with TTN mutations, and nonsynonymous TMB (p < 0.0001) proved to be a predictor. Mutated TTN affects the score of genetic variables involved in cancer cell metabolism in ovarian cystadenocarcinoma.


Assuntos
Cistadenocarcinoma Seroso , Neoplasias Ovarianas , Humanos , Feminino , Conectina/genética , Cistadenocarcinoma Seroso/genética , Cistadenocarcinoma Seroso/patologia , Mutação , Carcinoma Epitelial do Ovário , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia
2.
Childs Nerv Syst ; 39(7): 1773-1782, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-36609513

RESUMO

OBJECTIVES: This study aimed to verify possible associations between sociodemographic and clinical factors in live births with spinal dysraphism. METHODS: An analytical (descriptive and inferential) and ecological study was carried out based on secondary data of 11,308 live births with spinal dysraphism registered in the Live Birth Information System (SINASC) in Brazil from 1999 to 2019. Demographic factors analyzed were age, education, mothers' marital status and geographic region. The clinical factors analyzed were duration, gestation period, birthweight, and number of prenatal visits performed by women who underwent medical follow-up. RESULTS: There was an increase in the number of cases of spinal dysraphism in recent years in Brazil with an annual percentage variation of 3.52%. However, the period from 2005 to 2009 showed a reduction in live births with spinal dysraphism. The regions with the highest incidence were the South and Southeast. The risk increased in mothers born after 1980, older than 30 years and with a high level of education. The risk was increased in live births of whites and blacks, born from double pregnancy and with body weight less than 3000 g. The absence of prenatal care was associated with a higher incidence. CONCLUSION: Sociodemographic and clinical factors have specific characteristics that can predict spinal dysraphism in newborns in Brazil.


Assuntos
Defeitos do Tubo Neural , Disrafismo Espinal , Gravidez , Recém-Nascido , Feminino , Humanos , Nascido Vivo/epidemiologia , Brasil/epidemiologia , Disrafismo Espinal/epidemiologia , Incidência
3.
J Public Health Res ; 10(1): 1850, 2021 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-33681086

RESUMO

Background: Cryptorchidism is a congenital disorder that causes an irregularity in the permanent or temporary descent of one or both testicles. In Brazil, there are no comprehensive studies describing the association of demographic, social, and clinical characteristics in relation to cryptorchidism. Objectives: This study aims to verify possible associations of clinical and sociodemographic characteristics in patients with cryptorchidism. Design and Methods: An analytical, descriptive and retrospective study was carried out based on secondary data of 5,168 live births with cryptorchidism recorded in the Live Birth Information System (SINASC), Brazil from 1999 to 2018. The socio-demographic factors analyzed were the geographic region, age, education and marital status of the mothers. The clinical factors analyzed were the duration and type of pregnancy. The place of birth was also analyzed as a secondary outcome. Results: This research analyzed all live births during the study period, in Brazil. The chance of cryptorchidism in the neonate is more common in women who become pregnant later (≥30 years of age) and with a higher level of education (≥8 years). The risk of cryptorchidism in relation to the federation units is higher in Paraiba, Pernambuco, Sergipe, Sao Paulo, and Santa Catarina. Regarding the clinical characteristics, the shorter pregnancies, which characterize premature births, are a risk for the appearance of cryptorchidism in the country. Conclusion: Thus, in this study, we found that sociodemographic and clinical factors have specific characteristics that predict cryptorchidism in newborns in Brazil.

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