RESUMO
Ten Spanish patients from six unrelated families diagnosed with desmin-related myopathy (DRM) were studied. The pattern of DRM inheritance was autosomal dominant in three families, autosomal recessive in one, and there was no family history in two cases. The disease onset was in early adulthood. Cardiac myopathy was the initial presentation in two patients, respiratory insufficiency in one, and lower limb weakness in all others. Cardiac involvement was observed in four patients. Lens opacities were found in four. CK level was normal or slightly elevated, and electrophysiological examination was consistent with myopathy. Muscle biopsies identified intracytoplasmic desmin-immunoreactive inclusions. In addition to desmin, synemin, actin, gelsolin, ubiquitin, alphaB-crystallin and amyloid betaA4 were also present in the deposits. Ultrastructural examination revealed areas of myofibrillary disruption, abnormal electron-dense structures and accumulations of granulofilamentous material. A missense R406W mutation and a novel single amino acid deletion in the desmin gene were identified in two patients; the other patients did not show mutations in desmin, synemin, syncoilin or alphaB-crystallin genes. Analysis of 10 Spanish DRM cases illustrates a wide clinical, myopathological and genetic spectrum of DRM, reinforcing the need for further exploration of genetic causes for this group of disorders.
Assuntos
Desmina/genética , Doenças Musculares/genética , Doenças Musculares/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia , Cardiomiopatia Hipertrófica/genética , Catarata/genética , Criança , Eletromiografia , Feminino , Bloqueio Cardíaco/genética , Humanos , Proteínas de Filamentos Intermediários/genética , Masculino , Pessoa de Meia-Idade , Proteínas Musculares/genética , Músculo Esquelético/patologia , Doenças Musculares/diagnóstico por imagem , Proteínas do Tecido Nervoso/genética , Linhagem , Proteínas Quinases/genética , Insuficiência Respiratória/genética , Tomografia Computadorizada por Raios X , Cadeia B de alfa-CristalinaRESUMO
Sexual health has been defined as "the state of physical, emotional and social wellbeing related to sexuality. However, there are medical, psychological and social reasons that complicate full sexual health that are frequently not attended to sufficiently. The objective of this guide will be to analyze the factors that impact the sexual health of men and women over 50 and to provide recommendations for the most appropriate diagnostic and therapeutic measures for this age group. A panel of experts from various Spanish scientific societies related to sexual health (Spanish Menopause Society, SMS; Asociación Española de Andrología, Medicina Sexual y Reproductiva, ASESA; Federación Española de Sociedades de Sexología, FESS; and Sociedad Española de Médicos de Atención Primaria SEMERGEN) met to reach a consensus on these issues and to decide the optimal timing and methods based on the best evidence available.