Frequency of Positive ANCA Test in a Population With Clinical Symptoms Suggestive of Autoimmune Disease and the Interference of ANA in its Interpretation.

Background: Antibodies against neutrophil cytoplasm (ANCA) are associated with vasculitis. There are different methods to determine their presence. The interference of antinuclear antibodies (ANA) in the differentiation between P-ANCA and C-ANCA patterns has been described.

Mutational spectrum in breast cancer associated and genes in Colombia.

Introduction: The risk of developing breast and ovarian cancer is higher in families that carry mutations in BRCA1 or BRCA2 genes, and timely mutation detection is critical.

Objective: To identify the presence of mutations in the Colombian population and evaluate two testing strategies.

Methods: From a total universe of 853 individual blood samples referred for BRCA1 and BRCA2 typing, 256 cases were analyzed by complete direct sequencing of both genes in Myriad Genetics, and the remaining 597 cases were studied by partial sequencing based on founder mutations in a PCR test designed by ourselves ("Profile Colombia").

[Hemoglobin variants in Colombian patients referred to discard hemoglobinopathies].

Background: Oxygen transport is altered in hemoglobinopathies.

Aim: To study the distribution of hemoglobinopathies in Andean subjects without African ancestry.

Material And Methods: We analyzed blood samples of 1,407 subjects aged 18 to 59 years (58% females), living in the central Andean region of Colombia, referred to discard hemoglobinopathies.

C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population.

Introduction: Abnormal levels of the enzyme methylenetetrahydrofolate reductase (MTHFR) are associated with an increased risk of both cardiovascular and cerebrovascular disease and higher concentrations of homocysteine. Abnormal levels are also related to birth defects, pregnancy complications, cancer and toxicity to methotrexate (MTX). Polymorphisms of MTHFR affect the activity of the enzyme.