Acta Medica Port
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Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS. ⋯ Offering a systematic and multidisciplinary approach to NCS patients enables timely diagnosis, promotes a structured follow-up, and encourages discussion to outline management plans for optimal care to every patient, with significant impact on the quality of life of patients and families.
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Hansen's disease, commonly known as leprosy, is an infectious disease caused by Mycobacterium leprae. Being rare in developed countries, it is an increasingly common imported disease due to the migratory flow from countries where it is endemic. We present the case of a 21-year-old man who went to the emergency department with complaints of additive polyarthralgia involving large joints, papules, and erythematous plaques on the limbs with bullae and central necrosis and fever with chills for one week. ⋯ The diagnosis of multibacillary HD with type 2 lepromatous reaction (erythema nodosum leprosum - ENL) was established, showing clinical improvement under corticosteroid therapy. ENL usually presents with painful lesions, being an atypical presentation of leprosy, especially in the presence of bullae and necrosis, making diagnosis difficult and challenging. Social stigma is often present making it difficult to accept the disease as well as adherence to treatment.
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Obesity is a chronic noncommunicable disease, defined by a body mass index over 30 kg/m2. Its impact is not restricted to its association with higher risks of mortality and morbidity from other noncommunicable diseases, but also with a decrease in quality of life (QoL). There are several tools to assess QoL, from generic health-related tools to obesity-related specific ones. However, to assess QoL in patients undergoing bariatric surgery, only the Bariatric Analysis and Reporting Outcome System was available, which presented some significant problems. Therefore, the Bariatric Quality of Life (BQL) Index was developed. The aim of this study was the validation and cultural adaptation of the BQL Index for European Portuguese. ⋯ Our translation exhibited good parametric properties, with validity within the original BQL values, higher internal consistency, and good reproducibility.
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Nonalcoholic fatty liver disease is the leading cause of pediatric chronic liver disease. Although nonalcoholic fatty liver disease is closely associated with obesity, its relationship with metabolic syndrome in children is not fully understood. The main aim of this study was to evaluate the association between nonalcoholic fatty liver disease and a combination of cardiometabolic risk factors in adolescents with overweight/obesity, using a pediatric metabolic syndrome score (PsiMS) to predict metabolic syndrome. ⋯ The results suggest a good performance of the PsiMS to assess metabolic syndrome and that nonalcoholic fatty liver disease is associated with PsiMS at follow-up.
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The COVID-19 pandemic has accelerated the adoption of telemedicine as a means of reducing face-to-face contact and protecting professionals and patients. In Portugal, the number of hospital telemedicine consultations has significantly increased. However, the rapid implementation of telemedicine has also led to disparities in access to these services, resulting in inequalities in healthcare delivery. The aim of this study was to identify the main challenges to accessing hospital medical specialty consultations through telemedicine in Portugal during the COVID-19 pandemic. Additionally, this study aimed to establish a consensus on possible solutions for the challenges which were identified. ⋯ This study identified several challenges that impacted the adoption and implementation of telemedicine services for hospital care in Portugal during the pandemic period. These challenges were related to digital health literacy, technological and operational conditions, and reluctance in technological adoption. To overcome these challenges, training programs for healthcare professionals and patients may be necessary, along with investment in technological infrastructures, interoperability between systems, effective communication strategies and the strengthening of specific regulations.