Different types of mutations in the DMD gene underlie Duchenne muscular dystrophies (DMD) and Becker muscular dystrophies (BMD). Large deletions and duplications are the most frequent causative genetic alterations worldwide, but little is known about DMD/BMD genetic profile in Brazil. Hence, we recruited patients with DMD and BMD from 8 neuromuscular reference centers along the country, and performed a comprehensive molecular investigation that included Multiplex Ligation-dependent Probe Amplification and Next generation sequencing (NGS) analyses. We evaluated 199 patients from 177 unrelated families: 166 with DMD, 32 with BMD and 1 1.5 years old asymptomatic patient with persistent hiperCKemia. Overall, large deletions (58.2%) followed by nonsense mutations (12.4%) and large duplications (11.3%) were the most frequent variants in Brazilian families. Large deletions were less frequent in BMD than in DMD (44.8% vs 60.8%). We identified 19 new DMD variants. Nonsense mutations were significantly more frequent in patients from northeastern region than from southern/southeastern regions of Brazil (27.7% vs 8.5%, P < .05). Genetic profile of Brazilian patients with DMD/BMD is similar to previously reported cohorts, but it is not uniform across the country. This information is important to plan rational clinical care for patients in face of the new coming mutation-specific therapies.

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The two-arm Clinical Decisions/Diagnostic Workshop (CD/DW) approach to undergraduate medical education has been successfully used in Brazil. Objective: Present the CD/DW approach to the teaching of stroke, with the results of its pre-experimental application and of a comparative study with the traditional lecture-case discussion approach. Method: Application of two questionnaires (opinion and Knowledge-Attitudes-Perceptions-KAP) to investigate the non-inferiority of the CD/DW approach. Results: The method was well accepted by teachers and students alike, the main drawback being the necessarily long time for its completion by the students, a feature that may better cater for different educational needs. The comparative test showed the CD/DW approach to lead to slightly higher cognitive acquisition as opposed to the traditional method, clearly showing its non-inferiority status. Conclusion: The CD/DW approach seems to be another option for teaching neurology in undergraduate medical education, with the bonus of respecting each learner`s time.Keywords: neurology, stroke, medical education, teaching materials.RESUMO O método Decisões Clínicas/Oficinas Diagnósticas (DC/OD) é usado com sucesso na graduação médica no Brasil. Objetivo: Apresentar o método DC/OD usando o exemplo do Acidente Vascular Encefálico, assim como os resultados de sua aplicação pré-experimental e de um estudo comparativo com o método tradicional (aula mais discussão de casos). Método: Aplicação de questionários de opiniões e de questionários de conhecimentos, atitudes e percepções para investigar a não inferioridade do método DC/OD. Resultados: DC/OD foi bem aceito por professores e estudantes. A principal crítica foi o tempo necessariamente longo para os estudantes completá-lo, característica que pode atender às diferentes necessidades educacionais. O estudo comparativo demonstrou que o método DC/OD levou a uma aquisição cognitiva maior que o tradicional, demonstrando sua não inferioridade. Conclusão: O método DC/OD parece ser uma alternativa para o ensino da neurologia na graduação médica, com a vantagem de respeitar o diferente tempo de aprendizado dos estudantes.Palavras-chave: neurologia, acidente vascular cerebral, educação médica, materiais de ensino.The last decades have witnessed a deluge of scientific evidence in all areas of neurology 1 . Yet, such evidence is still little applied to those who need it most, patients 2 , as the diagnostic acumen of primary care practitioners, chiefly in neurology, has lagged behind 3,4,5 . These professionals who lack the basic skills of data collection and interpretation, differential diagnosis and diagnostic work-up place a heavy burden on already over-stretched health systems 6,7 . Additionally, clinical inertia, which fails to implement evidence-based diagnostic tools 8 , makes practice predominantly replicative 9 . Thus, the formation of professionals who can successfully translate people's complaints into meaningful diagnoses is deficient, to say the least, calling for innovative approache...

the incidence of pericardial effusion is low in neonates, but early diagnosis is fundamental due to high morbidity and mortality, especially in cases of abrupt onset. All cases were diagnosed by bedside ultrasonography, demonstrating its importance in the screening of these cases, especially in shocks of uncertain etiology and neonates with sudden onset hemodynamic instability who are using central venous access.

INTRODUÇÃO: A epilepsia é uma condição neurológica comum, mas infelizmente ainda tem lacunas no conhecimento, no diagnóstico e no tratamento, apresentando inúmeras repercussões econômicas e psicossociais. OBJETIVO E METODOLOGIA: Este artigo enfatiza o aspecto educacional da epilepsia, partindo do pressuposto de que ainda falta muita informação sobre epilepsia para a sociedade, e isso inclui profissionais em geral (da saúde, da educação, da área social), pessoas da comunidade, pacientes, familiares e também a mídia em geral. RESULTADOS E CONCLUSÃO: Diante deste cenário, a Comissão de Ensino da Liga Brasileira de Epilepsia pretende promover um processo de ampliação do entendimento médico e psicossocial da epilepsia, com ações que enfatizem a formação de pessoas capacitadas para o manejo desta condição.

Among one of the most commonly seen and primary headaches is migraine. Oxidative stress and inflammation is discussed to be implicated in the pathogenesis of migraine. However, further knowledge about this issue is necessary because data are in part controversial and the possible underlying mechanisms remain inconclusive to date. To evaluate and compare the oxidative and inflammatory profile of patients with migraine 47 volunteers were divided into 3 groups: 15 women with chronic migraine (WCM); 17 women with episodic migraine (WEM) and 15 men with migraine (MM) and enrolled in this study.Total antioxidant status; the enzymatic activity of the antioxidant agents Catalase (CAT), Glutathione S-transferase (GST) and Superoxide Dismutase (SOD); oxidative stress markers malondialdehyde (MDA) and carbonylated proteins; blood count and neutrophil/lymphocyte ratio; uric acid, c-reactive protein and cholesterol total and fractions were determined in pacients with migraine in the interictal phase. The group male participants (MM) displayed a reduction in total antioxidant status, as well as a lower value for antioxidant enzymes, but had no significant alterations in markers related to damage by oxidative stress compared to women. These findings suggest that there is a difference in the oxidative profile between the sexes among migraine patients. This may allow a better understanding of patients profile with different migraine phenotypes and identify new markers that might help understanding the pathophysiology and migraine patient management.

In this work we describe a setup employed for the recording of vertical dispersive holographic screens that can be used for medical applications. We show how to obtain holographic screens with areas up to 1200 cm 2 , focal length of 25±2 cm and diffraction efficiency of 7.2%. We analyze the technique employed and the holographic screens obtained. Using this screen we describe a setup for the projection of Magnetic Resonance or Tomographic Images. We also describe and present the first results of an autostereoscopic system for 3D medical imaging.