Structured reflection while practising with cases appears to foster the learning of clinical knowledge more effectively than the generation of immediate or differential diagnoses and therefore seems to be an effective instructional approach to developing diagnostic competence in students.

Structured reflection while practicing with cases enhanced learning of diagnosis both of the diseases practiced and of their alternative diagnoses, suggesting that reflection not only enriched mental representations of diseases practiced relative to more conventional approaches to clinical learning but also influenced the representations of adjacent but different diseases. Structured reflection seems a useful addition to the existing clinical teaching methods.

Background: Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving the shoulder and pelvic girdles. An important differential diagnosis among patients presenting with proximal muscle weakness (PMW) is late-onset Pompe disease (LOPD), a rare neuromuscular glycogen storage disorder, which often presents with early respiratory insufficiency in addition to PMW. Patients with PMW, with or without respiratory symptoms, were included in this study of Latin American patients to evaluate the profile of variants for the included genes related to LGMD recessive (R) and LOPD and the frequency of variants in each gene among this patient population. Results: Over 20 institutions across Latin America (Brazil, Argentina, Peru, Ecuador, Mexico, and Chile) enrolled 2103 individuals during 2016 and 2017. Nine autosomal recessive LGMDs and Pompe disease were investigated in a 10gene panel (ANO5, CAPN3, DYSF, FKRP, GAA, SGCA, SGCB, SGCD, SGCG, TCAP) based on reported disease frequency in Latin America. Sequencing was performed with Illumina's NextSeq500 and variants were classified according to ACMG guidelines; pathogenic and likely pathogenic were treated as one category (P) and variants of unknown significance (VUS) are described. Genetic variants were identified in 55.8% of patients, with 16% receiving a definitive molecular diagnosis; 39.8% had VUS. Nine patients were identified with Pompe disease. Conclusions: The results demonstrate the effectiveness of this targeted genetic panel and the importance of including Pompe disease in the differential diagnosis for patients presenting with PMW.

OBJECTIVE:To analyze the association between alcohol advertising and beer drinking among adolescents.

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1%) pacientes no estádio III, 31 (42,5%) no estádio II e 20 (27,4%)

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