Results: 261

Miocardiopatía periparto: revisión de la literatura

Rev. chil. cardiol; 41 (2), 2022
Resumen: La Miocardiopatía Periparto es una patología que se presenta como una insuficiencia cardíaca aguda que aparece en el último mes del embarazo o los primeros 5 meses post parto, en ausencia de otra causa identificable. A pesar de ser más frecuente en países Afrodescendientes, el efecto migra...

Genes humanos asociados a la infección por el SARS-CoV-2
Human genes associated with SARS-CoV-2 infection

Gac. méd. espirit; 24 (1), 2022
RESUMEN Fundamento: La variabilidad clínica de la infección por el SARS-CoV-2 se debe, en parte, a factores genéticos. Objetivo: Describir los principales genes de susceptibilidad a la Covid-19. Metodología: Se realizó una revisión bibliográfica en Google Académico, SciELO, Annual Reviews y PubMe...

The A allele of the rs759853 single nucleotide polymorphism in the AKR1B1 gene confers risk for diabetic kidney disease in patients with type 2 diabetes from a Brazilian population

ABSTRACT Objective: The AKR1B1 gene encodes an enzyme that catalyzes the reduction of glucose into sorbitol. Chronic hyperglycemia in patients with diabetes mellitus (DM) leads to increased AKR1B1 affinity for glucose and, consequently, sorbitol accumulation. Elevated sorbitol increases oxidative stress...

Factores hereditarios y síndromes de predisposición genética relacionados con sarcomas de partes blandas
Hereditary factors and syndromes of genetic predisposition related to sarcomas of soft parts

Medisan; 26 (1), 2022
Los sarcomas de partes blandas son tumores malignos que se originan en el tejido conectivo, a partir del mesénquima embrionario. Teniendo en cuenta la existencia de nuevos y constantes cambios en la naturaleza de estos tumores, se realizó una revisión de las publicaciones más recientes para profundiz...

Dermatoglifia como medio de hallazgo de diabetes mellitus: revisión sistemática

Introducción. La diabetes mellitus (DM) es una de las enfermedades crónicas más comunes, siendo una de las causas principales de mortalidad de la población mun-dial. La dermatoglifia es empleada como instrumento para el hallazgo de ciertos aspectos biológicos en diferentes poblaciones. Objetivo. Rec...

GGAA-Microsatellites of NR0B1 Promoter Region in Ewing’s Sarcoma Patients and Healthy Individuals of a Southern Brazilian Population

Introduction: The very aggressive soft tissue and bone pediatric tumor Ewing’s sarcoma (ES) is caused in most cases by the chromosomal translocation t(11;22)(q24;q12), which encodes an aberrant chimeric transcription factor (EWS-FLI1) that regulates target genes, including the critical on...

Heritable genomic diversity in breast cancer driver genes and associations with risk in a Chilean population

Biol. Res; 55 (), 2022
BACKGROUND: Driver mutations are the genetic components responsible for tumor initiation and progression. These variants, which may be inherited, influence cancer risk and therefore underlie many familial cancers. The present study examines the potential association between SNPs in driver genes SF3B1 (rs...

HLA-DQA1*04: 01 is related to a higher multiple sclerosis lesion load on T2/Flair MRI sequences

Arq. neuropsiquiatr; 79 (12), 2021
ABSTRACT Background: The genetic predisposition to multiple sclerosis (MS) is associated with HLA alleles, especially HLA-DRB1*15:01. Objective: To identify associations between findings in magnetic resonance imaging (MRI) and genetic features in a Brazilian cohort of patients with MS. Methods: We retros...

The rs2442598 polymorphism in the ANGPT-2 gene is associated with risk for diabetic retinopathy in patients with type 1 diabetes mellitus in a Brazilian population

ABSTRACT Objective: As studies have reported the involvement of angiopoietin-2 (ANGPT-2) in the pathogenesis of diabetic retinopathy (DR), the aim of this study was to investigate the association between the ANGPT-2 rs2442598 polymorphism and DR. Materials and methods: This case-control study comprised...

The risk of nonsyndromic cleft lip with or without cleft palate and Vax1 rs7078160 polymorphisms in southern Han Chinese

Abstract Introduction: Non-syndromic cleft lip with or without cleft palate is a common worldwide birth defect due to a combination of environmental and genetic factors. Genome-wide association studies reported the rs7078160 of Vax1 is closely related to non-syndromic cleft lip with or without cleft pal...