Acta medica portuguesa最新文献

{"title":"Sporotrichosis with Bone and Joint Manifestations: A Diagnostic Challenge.","authors":"Bernardo Reis Simões de Jesus, Daniel Pires Penteado Ribeiro, Márcio Luí S Duarte","doi":"10.20344/amp.23062","DOIUrl":"https://doi.org/10.20344/amp.23062","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144172302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Authorization Processes for Access to Hospital Clinical Records: The Case of a Multicenter Study].","authors":"Rafael Rocha, Carla Maia, Luzia Gonçalves, Cláudia Conceição","doi":"10.20344/amp.22816","DOIUrl":"10.20344/amp.22816","url":null,"abstract":"<p><p>Clinical practice generates a wealth of data daily, collected for the purpose of providing healthcare. However, this data holds the potential to contribute to the generation of knowledge. The aim of this study was to describe the process of submitting requests for access to clinical records for research and the heterogeneity in the evaluation of a national research project by the boards of directors and ethics committees of hospitals, hospital centers, and local health units within the Portuguese national health service. The procedures and waiting times are described. The results of this study highlight considerable variability in the process of submitting requests for access to clinical data and the evaluation of research protocols. They also reveal lengthy waiting times for obtaining authorizations. This study underscores the urgent need to continue the discussion on the ethical and legal issues involved in studies requiring access to clinical records or other health data.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Remote Consultations in Clinical Practice: A Review of Modalities and Current Challenges.","authors":"Tiago Cunha Reis","doi":"10.20344/amp.22628","DOIUrl":"https://doi.org/10.20344/amp.22628","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144131976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isolated Alopecia of the Upper Limbs: An Uncommon Presentation of Cutaneous Lupus.","authors":"Carlos M Nogueira, André Coelho, Sofia Lopes","doi":"10.20344/amp.23047","DOIUrl":"https://doi.org/10.20344/amp.23047","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144109355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multiple Sclerosis Disease-Modifying Treatment Algorithms: 2025 Positioning of the Portuguese Multiple Sclerosis Study Group.","authors":"Carlos Capela, Ernestina Santos, Filipe Palavra, Joana Guimarães, João Cerqueira, José Vale, Lívia Sousa, Sónia Batista, Maria José Sá","doi":"10.20344/amp.22380","DOIUrl":"https://doi.org/10.20344/amp.22380","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is a chronic autoimmune-mediated neurodegenerative disease characterized by inflammation, demyelination, and axonal/neuronal damage in the central nervous system. In Portugal, the prevalence of MS is approximately 64.4 per 100 000 individuals. It is typically diagnosed in young adults aged 30 to 40, with a higher incidence in women, although it can also affect children/adolescents and the elderly. Recent advances in MS treatment include the development and approval of several new disease-modifying therapies (DMTs) such as ocrelizumab, cladribine, siponimod, and others, thus expanding options for relapsing-remitting MS (RRMS). However, the options for progressive forms of MS remain limited. In Portugal, MS management strategies, guided by the 2015 recommendations of the Directorate-General of Health and the Portuguese medicines agency, need updating to incorporate recent scientific evidence and clinical expertise. The aim of this manuscript is to highlight gaps in current Portuguese MS treatment algorithms and propose enhancements aligned with global standards, thus improving treatment selection and patient outcomes in the Portuguese healthcare system. Developed by nine Portuguese neurology experts from the Portuguese Multiple Sclerosis Study Group, this document not only provides evidence and clinical practice-based recommendations but also includes DMT algorithms tailored for various MS subtypes, including radiologically and clinically isolated syndromes, RRMS, progressive MS, and specific situations in MS treatment such as pediatric-onset MS, late-onset MS, pregnancy and breastfeeding. This document provides evidence- and clinical practice-based recommendations to optimize decision-making during MS management in Portuguese centers. The experts aim to prompt the urgent revision of national MS treatment frameworks, incorporating the latest advancements in MS research and international guidelines, to reduce the socio-economic burden on the national healthcare system and improve the long-term health outcomes of MS patients.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143959466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Outcomes of Chemo-Immunotherapy for Extensive Stage Small Cell Lung Cancer: A Real-World Single Centre Study in Portugal.","authors":"David Noivo, Maria Bragança, Ana Sofia Vilariça, Filipa Ferro, Andrea Lopes Machado, Direndra Hasmucrai, Paula Alves","doi":"10.20344/amp.22546","DOIUrl":"10.20344/amp.22546","url":null,"abstract":"<p><p>Small cell lung cancer (SCLC) is an aggressive type of lung cancer. Recent studies have provided a new hope by adding atezolizumab to the standard treatment of extensive disease SCLC (E-SCLC). The aim of our study was to evaluate the real-life performance of atezolizumab plus chemotherapy in extensive stage SCLC in a Portuguese setting. Data was collected on twenty patients (70% were male with a mean age of 66.9 years) in treatment at a tertiary hospital in Portugal with E-SCLC treated with chemotherapy and atezolizumab between July 2022 and February 2024. All patients received a carboplatin plus etoposide regimen in combination with atezolizumab. The overall response rate was 55% (95% CI: 31.5 - 76.9) and the disease control rate was 70% (95% CI: 45.7 - 88.1). The median overall survival (OS) and progression-free survival (PFS) was 9.7 (95% CI:5.08 - 14.32) and 7.17 (95% CI:3.28 - 11.05) months, respectively. In total, 13 (65%) patients experienced disease progression and 10 (50%) died during follow-up from events related to the disease. Patients with a performance status score ≥ 2 had lower PFS (p = 0.003) and OS (p = 0.001). To the best of our knowledge, this is the first real-world clinical study in Portugal to evaluate real life outcomes for this combination therapy.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143595815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Síndrome hereditária hiperferritinemia-catarata: caso clínico.","authors":"Carolina Fernandes, Cláudia Diogo, Cristiana Malhó, Filipa Alçada, Sónia Campos","doi":"10.20344/amp.22524","DOIUrl":"10.20344/amp.22524","url":null,"abstract":"<p><p>Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder that is characterized by high serum ferritin levels without iron overload and early-onset cataracts. The authors describe the case of a 26-year-old woman with hyperferritinemia (1153.3 ng/mL, reference range 11.0 - 306.8 ng/mL), with no other abnormalities in iron metabolism, associated with cataracts diagnosed at the age of three. The diagnosis was confirmed by genetic testing with detection of a heterozygous variant in the FTL gene (c.-168G>T). It is important to recognise hereditary hyperferritinemia-cataract syndrome to avoid unnecessary medical procedures.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chilblains as a Clue for the Diagnosis of Essential Thrombocythemia.","authors":"Hugo J Leme, José Ramos, Ângela Roda","doi":"10.20344/amp.22842","DOIUrl":"https://doi.org/10.20344/amp.22842","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 5","pages":"352-353"},"PeriodicalIF":0.8,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143957513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Costs and Consequences of Chronic Kidney Disease in People with Diabetes in Portugal: A Modelling Study].","authors":"Margarida Borges, Edgar Almeida, Rui Alves, Raquel Ascenção, Miguel Bigotte Vieira, Carolina Bulhosa, João Costa, Gonçalo S Duarte, Luís Falcão, Manuel Pestana, João Raposo, Filipa Sampaio, Josefina Santos, Ana Paula Silva, Luís Silva Miguel","doi":"10.20344/amp.22573","DOIUrl":"https://doi.org/10.20344/amp.22573","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic kidney disease is the fastest-growing chronic disease in terms of prevalence and one of the biggest causes of global mortality according to the Global Burden of Disease Collaboration. This study aimed to project the natural disease progression of this disease in people with diabetes, and to quantify the costs and consequences in the Portuguese context. This was achieved by developing an analytical model reflecting the epidemiology of chronic kidney disease and integrating the various stages of disease progression.</p><p><strong>Methods: </strong>A population-based cohort Markov model was used, to follow an adult cohort of people with diabetes and chronic kidney disease as they progressed through different risk categories, in annual cycles, over a period of 50 years. The model considered the natural progression of chronic kidney disease through 18 risk categories based on the KDIGO classification system, as well as the probability of patients receiving renal replacement therapy, including dialysis and kidney transplantation, and the probability of death. Each stage is associated with an annual cost and a disability weight, so the model allowed survival, years lived with disability and lifetime costs to be estimated for the entire population with chronic kidney disease and for patients in different risk categories.</p><p><strong>Results: </strong>Over the cohort´s lifetime, the model estimated, for the total population with chronic kidney disease and diabetes, an average survival of 8.62 years, with 0.59 years lived with disability, and an average cost of €24 613. These figures correspond to a loss of more than 410 000 years lived with disability and a total lifetime cost of 17.0 billion euros. The progression of this disease was associated with lower survival, more years lived with disability and higher costs.</p><p><strong>Conclusion: </strong>The results of this study characterize the natural progression of chronic kidney disease in people with diabetes mellitus type 2, as well as the associated costs and consequences in the national context. Since diabetes mellitus type 2 is a risk factor for chronic kidney disease, it is expected that the real impact will be greater than estimated in the coming decades. Analysis by risk level shows that progression of the disease is associated with worse outcomes.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 5","pages":"307-316"},"PeriodicalIF":0.8,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143951844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Update on Generalized Pustular Psoriasis.","authors":"Tiago Torres, Joana Antunes, Rui Tavares Bello, Paulo Varela, Martinha Henrique, Gabriela Marques Pinto, Américo Figueiredo, Osvaldo Correia, Paulo Filipe, Francisco Menezes Brandão","doi":"10.20344/amp.22672","DOIUrl":"10.20344/amp.22672","url":null,"abstract":"<p><p>Generalized pustular psoriasis (GPP) is a rare but severe inflammatory skin disease characterized by the eruption of widespread sterile pustules, often accompanied by systemic inflammation. Although GPP can coexist with plaque psoriasis, it is increasingly recognized as a distinct entity with unique clinicopathological, immunologic, and genetic features. The dysregulated IL-36 pathway, including mutations in the IL36RN gene, is implicated in GPP pathogenesis, providing a molecular basis for targeted therapies. Diagnosing GPP requires a comprehensive evaluation, including clinical presentation, potential triggers, patient history, histopathologic findings, and laboratory results. Disease severity must be assessed through both cutaneous symptoms and systemic involvement, as GPP flares can lead to life-threatening complications such as sepsis and multi-organ failure. Historically, GPP treatment primarily relied on therapies approved for plaque psoriasis, despite their limited specificity for this condition. Recent advances in understanding the molecular mechanisms of GPP, particularly the central role of interleukin-36 pathway, have led to the development of targeted therapies for this rare condition. Currently, spesolimab is the only therapy specifically approved for treating GPP flares in adolescents and adults, in both Europe and the United States of America. However, the management of GPP remains complex and challenging. This narrative review provides an overview of the epidemiology, pathophysiology, clinical features, comorbidities, and evolving therapeutic strategies for GPP.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 5","pages":"321-330"},"PeriodicalIF":0.8,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143955646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}