Results: 110

Uso de biomarcadores e introducción a la genómica y proteómica clínica para predecir parto pretérmino y rotura prematura de membranas

Cienc. Serv. Salud Nutr; 10 (2), 2019
Introducción: la rotura prematura de membranas fetales ocurre espontáneamente antes del inicio del trabajo de parto, de igual manera, el parto pretérmino es el nacimiento que sobreviene antes de las 37 semanas de gestación. Objetivo: determinar la utilidad de biomarcadores como predictores de parto p...

Whole-exome sequencing in familial keratoconus: the challenges of a genetically complex disorder

Arq. bras. oftalmol; 82 (6), 2019
ABSTRACT Purpose: The underlying genetic causes of keratoconus are essentially unknown. Here, we conducted whole-exome sequencing in 2 Brazilian families with keratoconus. Methods: Whole-exome sequencing was performed on 6 keratoconus-affected individuals of 2 unrelated pedigrees from Southern Brazil. ...

How diseases became "genetic"

Abstract This article examines the origins of the term "genetic disease." In the late 19 and early 20th century, an earlier idea that diseases that occur in families reflect a vague familiar "predisposition" was replaced by the view that such diseases have specific causes, while Mendelian genetics provid...

Diagnosis: a critical social reflection in the genomic era

Abstract Diagnosis is a pivotal tool for the work of medicine as they categorise and classify individual ailments via a generalised schema. However diagnosis is also a profoundly social act, which reflects society, its values and how it makes sense of illness and disease. Considering diagnosis critically...

Associação do polimorfismo de IL-13 (+1398A/G) com a asma e a ancestralidade genômica

Introdução: A asma é uma doença complexa, resultante da interação entre fatores genéticos e ambientais. A expressão aumentada de genes relacionados à inflamação define as alterações celulares e estruturais do aparelho respiratório, enquanto o meio ambiente modula os diferentes fenótipos as...

Evaluación genómica en ganado Holstein Colombiano, usando genotipos imputados a densidad media

Rev. MVZ Córdoba; 24 (2), 2019
RESUMEN Objetivo. El objetivo de este estudio fue determinar la precisión y el sesgo de predicción de valores genómicos directos (VGD) usando genotipos imputados a densidad media, en características productivas y reproductivas en ganado Holstein de Antioquia, Colombia. Materiales y métodos. Fueron...

Genomic features of a clinical ESBL-producing and colistin-resistant hypermucoviscous K. quasipneumoniae subsp. similipneumoniae from Brazil

Braz. j. infect. dis; 23 (3), 2019

Squamous cell lung cancer: genomic evolution and personalized therapy

Salud pública Méx; 61 (3), 2019
Abstract: Objective: To review the state-of-the-art in relation to the current information on squamous cell lung cancer (SCLC). We describe the genetic anomalies reported, their effect, and finally the most promising therapeutic agents. Materials and methods: We reviewed published articles in peer-re...

Leveraging barrel medic genome sequence for the development and use of genomic resources for genetic analysis and breeding in legumes

BACKGROUND: A total of 62,591 cowpea expressed sequence tags (ESTs) were BLAST aligned to the whole-genome sequence of barrel medic (Medicago truncatula) to develop conserved intron scanning primers (CISPs). The efficacy of the primers was tested across 10 different legumes and on different varieties of ...