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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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.
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Hidradenitis suppurativa is a chronic and recurrent inflammatory dermatosis characterized by the presence of inflammatory nodules and abscesses in the apocrine gland-rich areas that may progress to suppurative fistulas and scars. Despite being considered one of the dermatological conditions with the greatest impact on patient quality of life, it is often underdiagnosed. Hidradenitis suppurativa, especially in its severe forms, is associated with numerous comorbidities, so a holistic and multidisciplinary perspective is crucial for the management of these patients. ⋯ The medical treatment options are diverse and must be adapted to clinical presentation and disease severity. Surgical therapy should be considered as an adjuvant to medical treatment, particularly in refractory cases and in the presence of scars or anatomical and/or functional mutilation. These recommendations reflect the main aspects of the management of the patient with hidradenitis suppurativa and are addressed to all healthcare professionals who take part in their follow-up.