Lipid metabolism and neuromuscular junction as common pathways underlying the genetic basis of erectile dysfunction and obstructive sleep apnea.

Erectile dysfunction (ED) incidence is higher in patients with obstructive sleep apnea (OSA). Studies have suggested that ED and OSA may activate similar pathways; however, few have investigated the links between their underlying genotypic profiles. Therefore, we conducted an in-silico analysis to test whether ED and OSA share genetic variants of risk and to identify any molecular, cellular and biological interactions between them. Two gene lists were manually curated through a literature review based on a PUBMED search, which resulted in one gene list associated with ED (total of 205 genes) and the other with OSA (total of 2622 genes). Between those gene sets, 35 were common for both lists (Fisher exact test, p-value = 0.027). The Protein-protein interaction (PPI) analysis using the intersect list as input showed that 3 of them had direct interactions (LPL, DGKB and PLCB1). In addition, the biological function of the genes contained in the intersect list suggested that pathways related to lipid metabolism and the neuromuscular junction were commonly found in the genetic basis of ED and OSA. From the shared genes between both conditions, the biological pathways highlighted in this study may serve as preliminary findings for future functional investigations on OSA and ED association.

Schwannoma vestibular: involução tumoral espontânea / Vestibular Schwannoma: spontaneous tumor involution

A história natural dos schwannomas vestibulares ainda não está totalmente elucidada, mas sua maioria tende a apresentar crescimento lento, muitos permanecendo sem sintomas durante toda a vida do paciente. Cerca de 69 por cento deste tipo de tumor diagnosticados não apresentam crescimento e, destes, 16 por cento chegam a apresentar regressão tumoral. Considerando os tumores que apresentam crescimento, cerca de 70 por cento crescem menos de 2 mm ao ano. O avanço nos métodos de diagnóstico por imagem, particularmente à ressonância magnética com contraste de gadolínio, permite o diagnóstico cada vez mais de lesões com sintomas mínimos e tamanhos menores. O tratamento de escolha para estes tumores ainda é a ressecção completa do tumor. As técnicas cirúrgicas apresentaram grande avanço nas últimas décadas, o que possibilitou diminuição da mortalidade. Assim, a cirurgia, que antes tinha como objetivo apenas a ressecção completa do tumor, agora visa também à preservação da audição e da função do nervo facial. Considerações finais: Considerando-se sua história natural, abre-se a possibilidade de uma conduta conservadora já que o ritmo de crescimento no primeiro ano após o diagnóstico prediz o comportamento do tumor nos próximos anos. A conduta conservadora não implica em repúdio à cirurgia, devendo ser utilizada em casos de aumento tumoral, piora dos sintomas ou desejo do paciente. Além disso, em relatos de literatura não há diferença estatisticamente significante entre os pacientes submetidos à cirurgia logo após o diagnóstico ou após conduta conservadora inicial, no que diz respeito às seqüelas pós-operatórias.

The natural history of Vestibular Schwannomas (VS) is yet not totally known, but most of them have the tendency to slow growth, sometimes without any kind of symptoms during the individual’s entire time. About 69 percent of diagnosed VS do not grow at all and 16 percent of these can even regress. Considering tumors that grow, about 70 percent have grown less than 2mm an year. Advanced radiological diagnosis, especially magnetic resonance imaging with gadolinium helps us diagnose small and less symptomatic tumors. Treatment of choice still is complete tumor resection. Surgical approaches have improved considerably and have helped preserve facial nerve function and hearing. Considering VS’s natural history, there is a possibility for conservative treatment for these tumors, because their growth in the first year after diagnosis predicts tumor growth behavior in the next years. Surgery should be done in cases of tumor growth, patient’s desire or symptoms worsening. Moreover, in terms of postoperative sequelae, there is no difference between patients who underwent surgery immediately after diagnosis and those who underwent initial conservative treatment for these tumors.