The relationship between students’ english background knowledge and their oral proficiency level in Readings and Conversation I course of the Bachelor of Arts in English with Emphasis in Teaching in the Foreign Language Department at the University of El Salvador semester II, 2017

The research was held with students of the course Readings and Conversation I from the Bachelor of Arts in English with Emphasis in Teaching in the Foreign Language Department at the University of El Salvador semester II, 2017. This research is descriptive since the researchers describe characteristics of the population or phenomenon that was studied in order to determine if there exists a relation between English background knowledge and their English Oral Proficiency. Regarding the communicative competences this research also presents information that can help to know if it is needed to set linguistic knowledge requirements for future students who want to apply to study the major in English Teaching in the Foreign Language Department at UES

Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease

Abstract 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. Results Twenty‐nine patients were included in the study, comprising these three forms. Overall, age of symptom onset was 0.1 to 43 years old. The most frequent variant identified was c.‐32‐13T>G, which was detected in 14 alleles. Among the 23 different variants identified in the GAA gene, 14 were classified as pathogenic, 5 were likely pathogenic, and 1 was a variant of uncertain significance. Two variants were inherited in cis arrangement and 2 were pseudodeficiency‐related benign alleles. We identified two novel variants (c.1615 G>A and c.1076‐20_1076‐4delAAGTCGGCGTTGGCCTG). Conclusion To the best of our knowledge, this series represent the largest phenotypic and genotypic characterization of patients with PD in Mexico. Patients within our series exhibited a combination of LOPD and IOPD associated variants, which may be related to genetic diversity within Mexican population. Further population‐wide studies are required to better characterize the incidence of this disease in Mexican population