Results: 433

Identification of Brucella abortus biovar 4 of bovine origin in Colombia

Rev. argent. microbiol; 51 (3), 2019
The objective of this study was to identify twelve Brucella abortus isolates of bovine origin from the department of Nariño in Colombia up to the biovar level. These isolates are included in the collection of the Germplasm Bank of Microorganisms of Animal Health Interest -Bacteria and Virus (BGSA-BV). T...

Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype

Int. braz. j. urol; 45 (5), 2019
ABSTRACT The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct...

Avances en el tratamiento de la distrofia de Duchenne
Advances in the treatment of Duchenne muscular dystrophy

Medicina (B.Aires); 79 (supl.3), 2019
La distrofia muscular de Duchenne es una enfermedad genéticamente determinada, ligada al cromosoma X y caracterizada clínicamente por producir debilidad muscular progresiva, con una incidencia de 1 por cada 3500-6000 varones nacidos. Es causada por la mutaciones en el gen DMD, el cual codifica la distr...

Diagnóstico y tratamiento de las miopatías congénitas
Diagnosis and treatment of congenital myopaties

Medicina (B.Aires); 79 (supl.3), 2019
Existen importantes avances en el campo de las miopatías congénitas en los últimos años que obligan a la revisión y actualización constante de este grupo de enfermedades. La identificación creciente de nuevos genes y fenotipos asociados a genes ya conocidos, fue posible en gran medida gracias al a...

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...

CD45 y leucemia linfoide aguda pediátrica
CD45 and childhood acute lymphoblastic leukemia

Introducción: El CD45 se expresa en las células hematopoyéticas, su determinación es indispensable para la clasificación inmunofenotípica de la leucemia linfoide aguda (LLA). Objetivo: Evaluar la expresión del antígeno CD45 en los blastos de pacientes pediátricos con LLA y su relación con las ...

Characterization of clinical isolates of Mycobacterium tuberculosis from indigenous peoples of Colombia

Biomédica (Bogotá); 39 (supl.2), 2019
ABSTRACT Introduction: Tuberculosis continues to be a public health priority. Indigenous peoples are vulnerable groups with cultural determinants that increase the risk of the disease. Objective: To determine molecular epidemiology and phenotypical features and of Mycobacterium tuberculosis isolates fr...

Metabolic phenotypes of obese, overweight, and normal weight individuals and risk of chronic kidney disease: a systematic review and meta-analysis

ABSTRACT Objective Chronic kidney disease (CKD) risk is inconsistent in the normal-weight, overweight, and obese individuals due to the heterogeneity of metabolic status. This meta-analysis aimed to examine the combined effects of body mass index (BMI) and metabolic status on CKD risk. Materials and m...

Pioneering studies on monogenic central precocious puberty

ABSTRACT Pubertal timing in humans is determined by complex interactions including hormonal, metabolic, environmental, ethnic, and genetic factors. Central precocious puberty (CPP) is defined as the premature reactivation of the hypothalamic-pituitary-gonadal axis, starting before the ages of 8 and 9 yea...

Exploratory analysis of rare and novel variants in Mexican patients diagnosed with schizophrenia and dementia

Rev. invest. clín; 71 (4), 2019
Abstract Background Schizophrenia (SCZ) and dementia, often related, are two of the most common neuropsychiatric diseases; epidemiological studies have shown that SCZ patients present a 2-fold increased risk for dementia compared to non-schizophrenic individuals. We explored the presence of rare and nov...