A síndrome de DiGeorge é a síndrome de microdeleção mais comum e uma das síndromes velo-cardiofaciais. A cardiopatia congénita, o hipoparatiroidismo primário e a imunodeficiência primária representam a tríade clássica de manifestações. É uma patologia genética bastante heterogénea, com grande variabilidade fenotípica, com clínica e manifestações pleiotrópicas que podem atingir todos os órgãos e sistemas. O diag...
O VIPoma é um tumor neuroendócrino raro (incidência 1:10 000 000), geralmente localizado no pâncreas. Este tumor está associado a elevado risco de malignidade e secreta o peptídeo intestinal vasoativo (VIP) resultando na síndrome de diarreia aquosa, hipocaliémia, acidose, hipocloridria e hipercalcemia. O único tratamento curativo é a cirurgia. Apresentamos o caso de um homem, com 60 anos, internado com um quadr...
An exaggerated accumulation of type I and type III fibrillar collagens occurs throughout the free wall and interventricular septum of patients with primary hypertension and left ventricular hypertrophy (LVH). In the present study the serum concentration of procollagen type III amino terminal peptide (PIIIP) was measured to determine the value of this peptide as a potential marker of ventricular fibrosis in hype...
Introduction: Phaeochromocytoma is a rare neuroendocrine tumour. The biochemical and clinical features derive mainly from excessive catecholamine production. When there is mass necrosis, these tumours may reveal themselves through a huge release of hormones. We present the case of a 42 year old female attending a Hypertension outpatient clinic because of fainting episodes and high blood pressure. She was diagno...
Introduction: The 24 hours monitoring blood pressure has allowed the discrimination between hypertension and white coat hypertension. Several works have shown haemorheolyic alterations in hypertensive patients, which might be related with the increased risk for cardiovascular events. The objective of the present work was to evaluate if any alteration in haemorheologyc parameters was present in the WCH.
The authors presenta case of Wegener's gra nulomatosis that had as first symptom scleritis, uveitis, and proptosis. Because of rapidly progressive glomerulonephritis, the patient was admitted three months later. On the 12Th day, third of ciclophosphamide therapy, the patient died in respiratory distress. Autopsy disclosed focal and segmentai necrotizing glomerulonephritis with crescent formation, and medium ...
Several reasons have been pointed out to explain the relative failure of antihypertensive therapy in the prevention of the atherosclerotic complications of high blood pressure. The decrease of blood pressure has proved to reduce the hypertensive ( mechanical) complications of hypertension but it did not prevent myocardial infarction, an atheros clerotic complication, as expected by the results of the epidemio...