Acta Medica Port
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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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A growing number of countries have legalized the process of hastening death. At a time when laws decriminalizing hastened death have been passed in the Portuguese Parliament, the development of research related with decision making regarding this issue is of crucial importance. This study seeks to evaluate, in a sample of Portuguese doctors, whether the presentation of clinical vignettes changes the agreement with the practice of hastened death compared with general scenarios. ⋯ Agreement increased when the clinical vignette was presented in comparison with the respective standard for most of the cases of hastened death presented.
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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.