Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.

Background: Pompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients.

Methods: We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency.

Blood donor notification rate in a blood bank in Veracruz, Mexico.

Blood banks are primarily responsible for providing safe blood, but they also indirectly act to prevent the spread of infectious diseases by notifying blood donors of positive screening results. The notification process differs between countries and notifications rates are generally low. This study sought to analyze the notification rate of healthy and infection-positive donors who donated blood at CETS-Veracruz.

Infantile-onset Pompe disease in seven Mexican children.

Introduction: Pompe disease (PD) is a rare form of metabolic myopathy; the classic infantile presentation is severe, with death occurring before reaching one year of life, and the non-classical form is of slower progression and survival can exceed one year.

Objective: To describe the genotype and characteristics of Mexican patients with infantile-onset PD.

Methods: Seven patients with PD confirmed by enzymatic activity determination and GAA gene molecular analysis were included.

Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries.

Background: There is a paucity of real-world epidemiological data on patients with mucopolysaccharidoses (MPS) in Latin America. This real-world study assessed the disease burden, management patterns and multidisciplinary clinical approaches for MPS-IVA and MPS-VI patients in Latin America (Colombia, Ecuador, Mexico, Peru).

Methods: Data were collected from physicians/specialists experienced in treating MPS patients between April-June 2020, via an online patient-diary survey.

The D543N polymorphism of the SLC11A1/NRAMP1 gene is associated with treatment failure in male patients with pulmonary tuberculosis.

Background: Polymorphisms in SLC11A1/NRAMP1 have shown an important association with susceptibility to tuberculosis and progression to active disease. However, whether there is an association of these polymorphisms with treatment failure is unknown. The aim of this study was to determine the association of SLC11A1 polymorphisms with treatment failure in Mexican subjects with pulmonary tuberculosis.