Rosa Maria Rodrigues Pereira

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A boy was born after a pregnancy complicated by a hydramnios. He appeared to suffer from Bartter's syndrome, a disease characterized by hyperreninemia, hyperaldosteronism and excess prostaglandin production resulting in hypokalemia, normotension, impaired urine concentration ability, polyuria and renal sodium loss. Other children with Bartter's syndrome,(More)
Carnitine deficiency can be defined as a decrease of intracellular carnitine, leading to an accumulation of acyl-CoA esters and an inhibition of acyl-transport via the mitochondrial inner membrane. This may cause disease by the following processes. A. Inhibition of the mitochondrial oxidation of long-chain fatty acids during fasting causes heart or liver(More)
OBJECTIVE To investigate the effects of a supervised exercise training program on health parameters, physical capacity, and health-related quality of life in patients with mild and chronic juvenile dermatomyositis (DM). METHODS This was a prospective longitudinal study following 10 children with mild and chronic juvenile DM (disease duration >1 year). The(More)
BACKGROUND Bone loss is a feature of both periodontitis and osteoporosis, and several studies have analyzed whether the periodontal destruction could have been influenced by systemic bone loss. The aim of this study is to assess the association between clinical attachment level (CAL) and bone mineral density (BMD) at the lumbar spine and hip, lifestyle,(More)
Cardiomyopathies are often caused by a metabolic defect. Carnitine deficiency and mitochondrial defects in the metabolism of acyl-CoA, including defects in oxidative phosphorylation, start the same circular mechanism of mitochondrial doom. Patients with cardiomyopathy due to carnitine loss are cured by carnitine supplementation. In such a patient we found(More)
We describe three children with an active rhesus antagonism. However, laboratory results and course were different than usual. The first child had blood-type O positive, while his mother had blood-type O positive as well. The mother of the second child had blood-type A negative, while the child seemed to be A negative too. The third child needed an exchange(More)
A boy aged 9 had had two years previously and again since a few weeks complaints of observing objects with distortion and reduction in size. He was known to suffer from asthma for which he received beclomethasone in a low dosage. Physical and supplementary examinations revealed no abnormalities. The condition was diagnosed as 'metamorphopsia'.
Prompted by the case history of a 17 year old girl with anaemia, mononucleosis infectiosa and abdominal pain, paroxysmal nocturnal haemoglobinuria (PNH) is described. After a mononucleosis infectiosa infection she developed many complications of which the most prominent were hemolysis and thrombosis. Severe abdominal pain and episodic bowel obstruction(More)
Retrocalcaneal bursitis has been described in various adult rheumatic diseases and septic bursitis unrelated to previous bursal disease has been reported in children. The case is reported here of a girl with juvenile chronic arthritis who developed non-septic retrocalcaneal bursitis; the diagnosis was suggested by a combination of clinical and radiographic(More)
When patients suffer from hepato-encephalopathy, (cardio)myopathy, dystrophy, hypoglycaemia, some metabolic diseases and several other disease states, carnitine deficiency should be considered. In this article a survey is given of the pathophysiology, laboratory diagnostics, clinical symptomatology and some therapeutic approaches. Some different cases will(More)