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Journals and Conferences
We present data on one patient with an inheritance pattern for two porphyrias. From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease). Enzyme studies confirmed this new type of dual porphyria.
Ultrasound was established as a remarkable means of recognizing dysplasia of hips or dislocations in the neonatal period following the work of R. Graf and later in France of H. Gomes and J. Schirrer et al. All the same, different techniques have been suggested and the role of the examination has been debated. Those who advocate routine screening of all… (More)
BACKGROUND Hemothorax is a rare complication of hereditary multiple exostosis. CASE REPORT A 12 year-old boy suffered from abrupt thoracic pain, firstly attributed to pleural effusion. He had hereditary multiple exostosis known since the age of 9 years. The patients was given anti-inflammatory drugs and erythromycin but the pleural effusion became more… (More)
INTRODUCTION Fibreoptic bronchoscopy (FB) is an important diagnostic examination in paediatric pulmonology. In 2002 the Paediatric Pulmonology and Allergy Club undertook a retrospective study to establish the current status of fibreoptic bronchoscopy among its members. METHODS In 2001 sixty five paediatric pulmonologists carried out an average of 116… (More)
An enteropathy with almost total atrophy of the villi was discovered in a 13-year old girl with idiopathic pulmonary haemosiderosis. Coeliac disease was strongly suspected but could not be proven. This case draws attention to the possible association of an idiopathic pulmonary haemosiderosis with a coeliac disease.