A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.

Congenital myopathies are a heterogeneous group of conditions diagnosed based on the clinical presentation, muscle histopathology and genetic defects. Recessive mutations in the SPEG gene have been described in recent years and are primarily associated with centronuclear myopathy with cardiomyopathy. In this report, we describe two Brazilian siblings, aged 13 and 6 years, with a novel homozygous mutation (c.8872 C>T:p.Arg2958Ter) in the SPEG gene leading to a congenital myopathy. In the older sibling, the muscle biopsy showed fiber size disproportion. The mean diameter of type 2 fibers (119 µm) was significantly higher than type 1 (57 µm) (P < 0,001) with a 72% prevalence of type 1 fibers. The patient also had progressive cardiomyopathy treated with heart transplantation. The present report expands the muscle histopathological findings related to mutations in the SPEG gene, including fiber size disproportion without central nuclei. Additionally, this report describes the first case of heart transplantation in a patient with SPEG mutations.

Pandemia do vírus influenza A H1N1: experiência da abordagem pediátrica no Hospital das Clínicas da UFMG / Pandemic Influenza A H1N1 virus: pediatric experience in the Clinical Hospital of UFMG

Introdução: apresenta-se revisão histórica com as características do vírus influenza A H1N1 e a evolução da pandemia. Objetivos: observar o comportamento da população pediátrica e comparar temporalmente as ações e as recomendações dos protocolos do Ministério da Saúde vigentes em cada momento. Métodos: trata-se de estudo descritivo das ações tomadas pelo Hospital das Clínicas da Universidade Federal de Minas para atendimento hospitalar e ambulatorial pediátrico dos casos suspeitos ou confirmados de infecção pelo novo vírus. Resultados: nas publicações mundiais atuais, a infecção pelo vírus influenza A H1N1 na faixa pediátrica mostrou ter mais gravidade nos pacientes com comorbidades. A evolução das crianças que não apresentavam comorbidades foi semelhante à da influenza sazonal. Conclusões: é importante o levantamento de dados brasileiros no preparo para uma possível segunda onda de infecção por esse vírus ou outro mutante. (AU)

Introduction: This is a historical review of the influenza A vírus H1N1 subtype and the pandemic evolution. Objectives: To observe the behavior of the pediatric population and to compare over time the actions and recommendations of the protocols of the Ministério da Saúde in effect at any time. Methods: This is a descriptive study of the actions taken by the Hospital das Clinicas, Federal University of Minas Gerais for hospital and outpatient pediatric cases of suspected or confirmed infection by this new virus. Results: The current publications worldwide show that the infection with influenza A H1N1 in pediatric patients was shown to be more serious in patients with comorbidities. The development of children who had no comorbidities was similar to seasonal influenza. Conclusions: Data collection in Brazil is important in preparation for a possible second infection stage by this virus or other mutants. (AU)

Protein kinase C modulates synaptic vesicle acidification in a ribbon type nerve terminal in the retina.

The driving force for neurotransmitter accumulation into synaptic vesicles is provided by the generation of a transmembrane electrochemical gradient (DeltamicroH+) that has two components: a chemical gradient (DeltapH, inside acidic) and an electrical potential across the vesicular membrane (DeltaPsi, inside positive). This gradient is generated in situ by the electrogenic vacuolar H(+)-ATPase, which is responsible for the acidification and positive membrane potential of the vesicle lumen. Here, we investigate the modulation of vesicle acidification by using the acidic-organelle probe LysoTracker and the pH-sensitive probe LysoSensor at goldfish Mb-type bipolar cell terminals. Since phosphorylation can modulate secretory granule acidification in neuroendocrine cells, we investigated if drugs that affect protein kinases modulate LysoTracker staining of bipolar cell terminals. We find that protein kinase C (PKC) activation induces an increase in LysoTracker-fluorescence. By contrast, protein kinase A (PKA) or calcium/calmodulin kinase II (CaMKII) activation or inhibition did not change LysoTracker-fluorescence. Using a pH-dependent fluorescent dye (LysoSensor) we show that the PKC activation with PMA induces an increase in LysoSensor-fluorescence, whereas the inactive analog 4alpha-PMA was unable to cause the same effect. This increase induced by PMA was blocked by PKC inhibitors, calphostin C and staurosporine. These results suggest that phosphorylation by PKC may increase synaptic vesicle acidification in retinal bipolar cells and therefore has the potential to modulate glutamate concentrations inside synaptic vesicles.

Monitoração de propaganda e publicidade de medicamentos: Âmbito de São Paulo / Monitoring the medicine advertising in São Paulo

A Organização Mundial de Saúde (OMS) tem por objetivo o controle político de acesso, de qualidade/segurança e de uso racional, no que se refere a medicamentos. Este último item salienta a relevante questão do usoincorreto de medicamentos induzido por promoções que visam exclusivamente a lucros. O presente trabalho apresenta os resultados de um projeto cujo objetivo foi acompanhar e analisar; do ponto de vista legal e farmacológico, as informações veiculadas por diferentes meios de comunicação através da propaganda, auxiliando a ANVISA na monitoração de propaganda e publicidade de medicamentos de venda livre ou com receita médica, bem como, dando suporte às medidas corretivas pertinentes, visando a garantir a segurança sanitária de produtos, serviços e, principalmente, da população...