Acta Medica Port
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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme defect in the world, affecting more than 500 million people. In Portugal, the average frequency of G6PD deficiency in males was estimated at about 0.5% and since the year 2000 several G6PD-deficient alleles have been identified. The main goal of this study was to improve the knowledge on the molecular heterogeneity of G6PD deficiency in the Portuguese population. ⋯ There is a wide molecular heterogeneity of G6PD deficiency in the Portuguese population.
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We present a case of a 33-year-old male who worked as a plumber and a locksmith. The patient presented with diffuse myalgia and asthenia, skin sclerosis and puffy fingers, Raynaud's phenomenon, exertional dyspnea and erectile dysfunction. The presence of specific autoantibodies enabled the diagnosis of systemic sclerosis. ⋯ Silica inhalation is the cause of silicosis but is also implicated in the development of systemic sclerosis (Erasmus syndrome). Although they share a common risk factor, it is rare to find both diseases co-existing. We present this case of a young patient where both diseases presented aggressively in order to raise awareness to this association.
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Prader-Willi syndrome is a multisystemic genetic disorder associated with shorter adult height. Nowadays, all paediatric Prader-Willi syndrome patients are considered for growth hormone treatment. We present the experience of this treatment at a Portuguese paediatric endocrinology unit and intend to emphasise the importance of creating a follow-up national network of these patients. ⋯ This case series represents the first national study that included patients on growth hormone therapy after the National Health Service started supporting the treatment for Prader-Willi syndrome patients and supports its use, reinforcing the positive effects on growth and body mass index. Longer follow-up studies are needed to analyse the effect of growth hormone on patient metabolic profiling, body composition and cognitive level.