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Long-term follow-up in Stuve–Wiedemann syndrome: a clinical report
Gaspar, I; Saldanha, T; Cabral, P; Vilhena, M; Tuna, M; Costa, C; Dagoneau, N; Daire, V; Hennekam, RStuve-Wiedemann syndrome (SWS) is an autosomal recessively inherited disorder that is usually associated with high mortality in the neonatal period. Eleven cases have been published with prolonged survival, the oldest being 16 years. This phenotype is characterized by progressive skeletal anomalies including short stature, severe spinal deformities, bowing of the long bones, contractures and spontaneous fractur...
Hereditary protein C deficiency and portal vein thrombosis.
dos Santos, J N; Serviço de Medicina 4, Hospital de Santa Maria, Faculdade de Medicina de Lisboa.; Mello e Silva, A; Alexandrino, P; Saldanha, TInherited defects of the natural coagulation inhibitors predispose patients to thrombosis. These disorders have similar clinical presentations with a strong family of thrombosis, episodes of recurrent venous thromboembolism, beginning in early adulthood. We report a case of upper gastrointestinal bleeding in a patient with portal hypertension due to portal-vein thrombosis secondary to hereditary protein C defic...
Cellular immune response to mycobacterial antigens.
Ordway, D; Centro de Malária e Outras Doenças Tropicais/IHMT e Hospital Egas Moniz, Lisboa.; Moraes, M F; Oliveira, L; Badura, R; Pinheiro, M NThe authors studied the immunological response before and after beginning anti-tuberculous therapy, of a previously health, HIV negative, 22 year old black male, from the Republic of Cape Verde. The patient had multiple vertebral bony lesions associated to subcutaneous abscesses. As immunological markers of antigen recognition, we measured blastogenic and cytotoxic responses and gamma-IFN secretion towards 30 k...
Computerized tomography of the child's thorax. Clinical use.
Santos, J F; Serviço de Radiologia, Hospital de Santa Maria, Lisboa.; Sequeira, N; Saldanha, T; Alvares, P; Afonso, J GThe authors describe the use of Computed Tomography for the evaluation of pediatric patients, with a variety of chest diseases. Indications and technical factors are described according to the experience of the examinations done in the first 100 children studied in the Radiology Department of the Santa Maria Hospital. ; The authors describe the use of Computed Tomography for the evaluation of pediatric patient...
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