Acta medica portuguesa最新文献

{"title":"[Practical Guidance on the Detection of NTRK Fusions in Sarcomas: Current Status and Diagnostic Challenges].","authors":"Isabel Fernandes, Daniela Macedo, Emanuel Gouveia, Ana Ferreira, Jorge Lima, Dolores Lopez, Cecília Melo-Alvim, Alice Carvalho, Paulo Tavares, Paulo Rodrigues-Santos, Pedro Cardoso, Manuel Magalhães, Paula Vieira, Joaquim Brito, Cristina Mendes, Joana Rodrigues, Eduardo Netto, Vânia Oliveira, Catarina Sousa, Miguel Henriques Abreu, Filomena Pina, Hugo Vasques","doi":"10.20344/amp.21925","DOIUrl":"https://doi.org/10.20344/amp.21925","url":null,"abstract":"<p><p>Sarcomas are a rare and heterogeneous group of mesenchymal malignant tumors and account for approximately 1% of all adult cancers and around 20% of all pediatric solid tumors in Europe. Technology advances have enabled a more accurate and efficient characterization of the molecular mechanisms underlying the pathogenesis of sarcoma subtypes and revealed novel and unexpected therapeutic targets with prognostic/predictive biomarkers, namely the neurotrophic tyrosine receptor kinase (NTRK) gene fusion. The NTRK fusion assessment has recently become a standard part of management for patients with unresectable locally advanced or metastatic cancers and has been identified in various tumor types. In the more prevalent adult and pediatric sarcomas, NTRK fusions are present in 1% and 20%, respectively, and in more than 90% of very rare subsets of tumors. The inhibition of TRK activity with first-generation TRK inhibitors has been found to be effective and well tolerated in adult and pediatric patients, independently of the tumor type. Overall, the therapeutic benefit to those patients compensates for the difficulties of identifying NTRK gene fusions. However, the rarity and diagnostic complexity of NTRK gene fusions raise several questions and challenges for clinicians. To address these issues, an expert panel of medical and pediatric oncologists, radiologists, surgeons, orthopedists, and pathologists reviewed the recent literature and discussed the current status and challenges, proposing a diagnostic algorithm for identifying NTRK fusion sarcomas. The aim of this article is to review the updated information on this issue and to provide the experts' recommendations and practical guidance on the optimal management of patients with soft tissue sarcomas, infantile fibrosarcoma, gastrointestinal stromal tumors, and osteosarcoma.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 4","pages":"266-275"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787540","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":"[Congenital Sideroblastic Anemia and Iron Overload in Older Age].","authors":"Mariana Gradim, Fátima Ferreira","doi":"10.20344/amp.22803","DOIUrl":"https://doi.org/10.20344/amp.22803","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 4","pages":"279-280"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787519","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":"[Perception of Health-Related Quality of Life in Stroke Patients in a Continuing Care Unit: A Follow-Up Study].","authors":"José Grilo Gonçalves, Manuel Teixeira Verissimo, Daniela Figueiredo","doi":"10.20344/amp.22181","DOIUrl":"https://doi.org/10.20344/amp.22181","url":null,"abstract":"<p><p>Stroke continues to be one of the main causes of death in Portugal, with a prevalence rate of 8% in individuals aged 50 or over. The objectives of this study were to evaluate the perception of quality of life (QoL) related to health in patients with stroke, after discharge from the Integrated Continuing Care Unit (UCCI), and to evaluate the factors that influence health-related QoL. An observational, longitudinal and descJá agora riptive study was carried out with patients aged 65 years or older with a history of stroke and hospital discharge in central Portugal. They were observed in two time points: six and 12 months after discharge from the UCCI. Data was collected using self-completion questionnaires, namely the Portuguese version of the Stroke Scale Quality of Life (SS-QoL). Considering follow-up losses, a total of 128 individuals were included. All SS-QoL dimensions showed improvements from six to 12 months post-discharge. The variables \"personality\" and \"mental capacity\" showed the best evolution. The present study allows us to understand the evolution of the QoL of these users, including the most affected factors over time and that influence post-stroke rehabilitation.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 4","pages":"245-249"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787536","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":"Differences in the Psychopharmacological Trajectories of School-Age Children with Attention-Deficit/Hyperactivity Disorder with and without Intellectual Disability.","authors":"Francisca Bastos Maia, Vânia Martins Miranda","doi":"10.20344/amp.20712","DOIUrl":"https://doi.org/10.20344/amp.20712","url":null,"abstract":"<p><strong>Introduction: </strong>Attention-deficit/hyperactivity disorder (ADHD) affects 5% - 7% of school-aged children, while intellectual disability (IDD) affects approximately 1% of the general population. Diagnosing and treating ADHD in individuals with IDD is challenging, not only due to communication difficulties but also because of psychiatric comorbidities that may be present. These factors can result in underdiagnosis of ADHD and increased prescribing of other psychotropic medications. The aim of this study was to determine differences in psychopharmacological treatment (number of prescribed psychostimulants, inefficacy, adverse effects) and in the number of comorbidities and other prescribed psychotropic drugs between patients with ADHD, with and without ID.</p><p><strong>Methods: </strong>In the study, 845 children were included, divided into two groups: 574 with ADHD without ID and 271 with ADHD with ID. Microsoft® Excel® was used to calculate the Student's t-test, and statistical significance was assumed using the standard p-value of < 0.05.</p><p><strong>Results: </strong>No significant differences were found in the average number of psychostimulants prescribed between groups (p = 0.57). Among those with ADHD without ID, 52.4% switched psychostimulants, while in the group with ADHD and ID, this change occurred in 56.1%. Statistically significant differences were found in the average number of other psychotropic medications prescribed per patient (p < 0.05) and in the number of antipsychotics prescribed (p < 0.05). Although our study showed more antipsychotic prescriptions for patients with ID compared to those without ID, some studies report similar use of antipsychotics between these groups. Additionally, the group with ID presented significantly more comorbidities than the group without ID (p < 0.05). These findings are aligned with the literature, which indicates a higher prevalence of psychiatric comorbidities in samples of patients with ID compared to those without ID (50% vs 18%).</p><p><strong>Conclusion: </strong>Individuals with ID are diagnosed with more psychiatric comorbidities and are prescribed more psychotropic drugs. Additionally, more adverse effects and inefficacy with psychostimulants in ID populations require careful monitoring after initiation.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 4","pages":"228-236"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787506","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":"Ramsay Hunt Syndrome: Clinical Presentation, Diagnostic Challenges, and Treatment Efficacy.","authors":"Pedro Henrique Segatt, André Dias Almeida Mucci de Aguiar, Bruno Fernandes Barros Brehme de Abreu, Marcelo de Queiroz Pereira da Silva, Márcio Luí S Duarte","doi":"10.20344/amp.22534","DOIUrl":"https://doi.org/10.20344/amp.22534","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 4","pages":"283-284"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787597","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":"EBV-Associated Cytotoxic Peripheral T-cell Primary Pulmonary Lymphoma.","authors":"André Nunes, Luís Mateus, Maria João Cavaco, João Pimentel, Carla Cardoso","doi":"10.20344/amp.22349","DOIUrl":"https://doi.org/10.20344/amp.22349","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 4","pages":"278-279"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787577","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":"PRIMARY-HF: Heart Failure Screening in Primary Care using Point-of-Care.","authors":"Jonathan Dos Santos, João Pedro Nobre, João Pedro Ferreira, Maria Inês M Marques, Miguel Henriques, Nuno Cardim, Tiago Villanueva, Alexandra Gonçalves","doi":"10.20344/amp.22463","DOIUrl":"10.20344/amp.22463","url":null,"abstract":"<p><strong>Introduction: </strong>Heart failure is a major health challenge with high morbidity and socioeconomic burden, especially when diagnosis is delayed. In primary care, HF detection can be challenging due to symptoms overlapping with other conditions, limited access to diagnostic tools, and resource constraints. This study explores the use of natriuretic peptides (NT-proBNP) and point-of-care ultrasound (POCUS) with artificial intelligence integration as tools to improve HF screening and management in primary care. This study aims to determine whether NT-proBNP testing alone or combined with cardiac POCUS improves heart failure diagnosis and management in primary care settings, and to evaluate the cost-effectiveness of this approach.</p><p><strong>Methods: </strong>This randomized controlled trial will involve patients aged 50 or older with suspected HF or cardiovascular risk factors, recruited across four primary care centers. Participants will be randomly assigned to one of four groups: standard of care (SoC), SoC with NT-proBNP, SoC with NT-proBNP and POCUS, and SoC with POCUS. Primary outcomes include new HF diagnosis, initiation of guideline-directed medical therapy, and improvement in health-related quality of life. Secondary outcomes include cost-effectiveness and the quality assessment of POCUS performed by trained primary care physicians. The integration of NT-proBNP and POCUS in primary care may enhance early heart failure diagnosis, optimize therapy, improve patient quality of life, and reduce healthcare costs associated with heart failure misdiagnosis and delayed treatment. This study could support the broader adoption of accessible diagnostic tools to improve heart failure management in primary care.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":"237-244"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143490347","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":"How to Unleash the Potential of the Portuguese Registry of Intensive Care Medicine?","authors":"João João Mendes, Inês Amaral, João Gonçalves Pereira, José Artur Paiva, Paulo Figueiredo, Pedro Póvoa, Teresa Guimarães, Paulo Mergulhão","doi":"10.20344/amp.22673","DOIUrl":"https://doi.org/10.20344/amp.22673","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143741775","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":"Acute Aortic Dissection in the Third Trimester of Pregnancy as an Initial Presentation of Marfan Syndrome.","authors":"Marta Reis Santos, Alexandre Valentim Lourenço, Maria Pulido Valente","doi":"10.20344/amp.22287","DOIUrl":"https://doi.org/10.20344/amp.22287","url":null,"abstract":"<p><p>Aortic dissection is rare and more common in men. In women, it is more frequent during pregnancy, especially in the third trimester. We present the case of a 30-year-old pregnant woman diagnosed with type B aortic dissection at 29 weeks of gestation. Following the diagnosis, fetal maturation was initiated, and the patient was transferred to a tertiary care center. Due to uncontrolled hypertension and persistent pain, and after evaluating the maternal and fetal risk-benefit, a cesarean section was performed at 29 weeks and six days. During the postoperative period, a multi-drug regimen was required for blood pressure control, but the patient recovered and was discharged. Genetic testing, prompted by a family history of sudden death (brother) and aortic dissection (father), identified a mutation in the FBN1 gene, confirming Marfan syndrome. This case highlights the importance of comprehensive patient history, the challenges of aortic dissection during pregnancy, and the need for a multidisciplinary approach in these cases.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143727381","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":"https://doi.org/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":"2025-03-14","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}