Results: 261

Predição do risco de adoecimento por hanseníase em contatos de casos da doença de uma região endêmica brasileira

O objetivo deste estudo foi analisar os determinantes da infecção pelo Mycobacterium leprae e do adoecimento por hanseníase em contatos de casos da doença, residentes na Microrregião de Almenara, Minas Gerais, Brasil, a fim de compor um modelo de predição da hanseníase em contatos inseridos em re...

Methylene tetrahydrofolate reductase (MTHFR) and vascular endothelial growth factor (VEGF) polymorphisms in Brazilian patients with Hepatitis C virus (HCV)-related hepatocellular carcinoma (HCC)

Clinics; 76 (), 2021
OBJECTIVE: The folate pathway is involved in hepatic carcinogenesis and angiogenesis. Polymorphisms in genes related to such processes, including methylene tetrahydrofolate reductase (MTHFR) and vascular endothelial growth factor (VEGF)] may play an important role in the development of hepatocellular car...

Association of the polymorphism Exon 1 (A/O) region of the mannose-binding lectin gene and periportal fibrosis regression in schistosomiasis after specific treatment

Abstract INTRODUCTION: We evaluated the association between genetic polymorphisms in exon 1 (A/O alleles) and promoter regions at positions -550 (H/L variant, rs11003125) and -221 (X/Y variant, rs7096206) MBL2 and periportal fibrosis regression. METHODS: This was a retrospective cohort study involvin...

A duplex probe-directed recombinase amplification assay for detection of single nucleotide polymorphisms on 8q24 associated with prostate cancer

Braz. j. med. biol. res; 54 (2), 2021
Single nucleotide polymorphisms (SNPs) have important application value in the research of population genetics, hereditary diseases, tumors, and drug development. Conventional methods for detecting SNPs are typically based on PCR or DNA sequencing, which is time-consuming, costly, and requires complex in...

Hereditary Breast and Ovarian Cancer Screening Syndrome Profile in Women Diagnosed with Breast Cancer from Paraná State Southwest

Abstract Objective This study evaluated the risk of the hereditary breast and ovarian cancer (HBOC) syndrome in patients with breast cancer by using the Family History Screening 7 (FHS-7) tool, a validated low-cost questionnaire with high sensitivity able to screen the HBOC risk in the population. Met...

Susceptibilidad genética y enfermedad autoinmune reumática: Revisión narrativa

Cienc. tecnol. salud; 8 (1), 2021
La autoinmunidad es la consecuencia de la pérdida de control y regulación de la respuesta inmune. Se re-porta que ocurre entre 5 y 9% de patologías a nivel mundial. A las enfermedades con esta anomalía se les denomina autoinmunes y se clasifican de acuerdo con el órgano o sistema afectado. Las reum�...

Germline and Somatic mutations in postmenopausal breast cancer patients

Clinics; 76 (), 2021
OBJECTIVES: In breast cancer (BC) patients, the frequency of germline BRCA mutations (gBRCA) may vary according to the ethnic background, age, and family history of cancer. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is the second most common somatic mutated gene in BC...

Effects of FTO and PPARγ variants on intrauterine growth restriction in a Brazilian birth cohort

Braz. j. med. biol. res; 54 (1), 2021
Intrauterine growth restriction (IUGR) is related to a higher risk of neonatal mortality, minor cognitive deficit, metabolic syndrome, and cardiovascular disease in adulthood. In previous studies, genetic variants in the FTO (fat mass and obesity-associated) and PPARγ (peroxisome proliferator-activa...

Association between single-nucleotide polymorphisms in miRNA and breast cancer risk: an updated review

Biol. Res; 54 (), 2021
Breast cancer (BC), a heterogeneous, aggressive illness with high mortality, is essentially a genomic disease. While the high-penetrance genes BRCA1 and BRCA2 play important roles in tumorigenesis, moderate- and low-penetrance genes are also involved. Single-nucleotide polymorphisms (SNPs) in microRNA (m...

IRF6 polymorphisms in Brazilian patients with non-syndromic cleft lip with or without palate

Abstract Introduction: Non-syndromic orofacial clefts have a complex etiology due to the contribution from both genetic and environmental risk factors, as well as the interaction between them. Among the more than 15 susceptibility loci for non-syndromic orofacial clefts with considerable statistical and...