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.

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.

[Late onset Pompe disease: an analysis of 19 patients from Mexico].

Introduction: Pompe disease (PD) is a rare metabolic myopathy with an ample and heterogeneous clinical spectrum, particularly late onset PD (LOPD), which is characterized by appearance at older age and slower disease progression, leading to diagnostic confirmation difficulty and delay.

Aim: To describe the genotype and clinical characteristics of Mexican patients with LOPD.

Material And Methods: Clinical information from 19 Mexican patients with LOPD confirmed with enzyme activity and GAA gene analysis was reviewed.

[Characterisation of factors associated with carotid stenosis in a population at high risk].

Introduction: Moderate to severe stenosis is the less prevalent among the forms of carotid atherosclerotic disease), but it carries a high risk of ischaemic stroke.

Aim: To characterise factors associated with moderate to severe carotid stenosis in a high-risk population.

Patients And Methods: We performed an analysis on traditional risk factors associated with carotid stenosis ≥50% in 533 patients who received Doppler ultrasound due to a history of stroke (34%) or who had = 2 of the risk factors: age ≥55 years (86%), hypertension (65%), dyslipidemia (52%), obesity (42%), diabetes (40%) or smoking (40%).