No abstract

Introdução: no Serviço de Urgência vive-se um antagonismo constante pela sua natureza direcionada para a patologia aguda e a prestação de cuidados paliativos de qualidade. O nosso estudo tem como objetivo avaliar se a definição de teto terapêutico leva a diferenças na adequação da marcha diagnóstica e terapêutica instituída.Material e métodos: análise retrospetiva descritiva monocêntrica dos doentes que morreram nos primeiros seis meses de 2018 no serviço de urgência do Hospital do Espírito Santo de Évora.Resultados: compararam-se os três grupos de doentes o que não foi definido qualquer teto terapêutico, com o grupo em que iniciaram medidas paliativas e o grupo em que se tomou a Decisão de Não Reanimar. Verificou-se que não existem diferenças significativa entre as idades, o local de residência e as comorbilidades e, com exceção da demência (p= 0,006), existe sim uma diferença no grau de dependência nas atividades da vida diária (p<0,001). Verificou-se que não existem diferenças entre número ou tipo de exames complementares de diagnóstico, mas há algumas diferenças na terapêutica instituída já que no grupo dos doentes em cuidados paliativos a terapêutica com morfina (p<0,001), butilescopolamina (p=0,001) e paracetamol (p=0,004) foi mais frequente. A ventilação invasiva só ocorreu no grupo de doentes sem definição de teto terapêutico (p<0,001), enquanto a oxigénioterapia foi mais frequente nos grupos em Decisão de Não Reanimar ou em cuidados paliativos (p<0,001).Discussão e conclusão: os médicos do serviço de urgência reconhecem que os seus doentes estão em final de vida, adequando parcialmente a terapêutica com vista ao controlo de sintomas, dor e secreções.

Dysferlinopathies are autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene (DYSF). A 33-year-old man was born to a non-consanguineous couple. At the age of 25 he stared to feel weakness of the distal lower limbs and also experienced episodes of rhabdomyolysis. Electromyography showed a myopathic pattern, and muscle biopsy revealed dystrophic changes with absence of dysferlin. Genetic analysis was positive for a mutation in the c3367_3368del DYSF gene (p.Lys1123GLUFS*2). After 8 years of disease evolution the symptomatology worsened. This is the first report of this mutation of the DYSF gene identified in a non-consanguineous Portuguese family, studied over 8 years. We believe the mutation is responsible for the Miyoshi myopathy. Disease progression cannot be predicted in either the patient or carrier family because there are no similar cases previously described in the literature.

Aortitis is a rare diagnosis that requires a high index of suspicion due to nonspecific symptoms and its multiplicity of etiologies.An 80-year-old man, independent in activities of daily living (ADLs), had three consecutive hospitalizations in three months for fever, general malaise, anorexia associated with arthritis of the hands and feet with the inability to walk. Inflammatory markers were increased without a focus of infection identified. Upper digestive endoscopy (UDE), colonoscopy, blood cultures, thoracoabdominal-pelvic CT and transthoracic (TT) echocardiogram were performed without changes, with discharge for consultation after demonstrating apyrexia. At the patient second hospitalization for fever and arthritis, a transesophageal echocardiogram was performed that showed the presence of multiple complex atherosclerotic plaques, with associated thrombi in all segments of the aorta with a suspicious mass of vegetation on the aorta. Thoracicabdominopelvic CT demonstrated calcified atheromatosis of the entire aorta with para-aortic nodes; MRI showed aortic thickening; and autoimmunity study was negative. Aortitis was the working diagnosis of possible infectious etiology and anticoagulation and antibiotic therapy were started. Fever recurred and a third admission led to a working diagnosis of inflammatory, non-infectious aortitis. The patient responded well to empiric corticosteroids.The patient followed up in consultation, remained asymptomatic under a low dose of corticosteroids with negative temporal artery biopsy. In the sixth month, he repeated UDE due to dysphagia, which showed the presence of esophageal neoformation with the histological diagnosis of squamous cell carcinoma, maintaining on the CT as alterations in the aorta. This is an unusual case of aortitis associated with arthritis with improvement after corticosteroids, which interestingly occurred before the progression of esophageal cancer. In hindsight, we think this may have been a large vessel paraneoplastic vasculitis that preceded the detection of esophageal squamous cell carcinoma.