Acta medica portuguesa最新文献

{"title":"A Novel Combination of Biallelic Variants in the VARS2 Gene: A Severe Phenotype.","authors":"Joana Capela, Mariana Reis, Inês Almeida, Marta Novo, Ana Ramalho, Patrícia Lipari, Márcia Rodrigues","doi":"10.20344/amp.23831","DOIUrl":"10.20344/amp.23831","url":null,"abstract":"<p><p>To our knowledge, only 29 individuals have been described in the literature with biallelic pathogenic variants in the valyl-tRNA synthetase 2 (VARS2) gene, responsible for changes in the mitochondrial respiratory chain complex. We report two siblings with a novel combination of biallelic variants in the VARS2 gene (c.1079C>T p.Ala360Val, likely pathogenic, and c.1258G>A p.Ala420Thr, likely pathogenic). Both presented early hypertrophic cardiomyopathy and lactic acidosis, with fatal outcomes within the first year of life. The first also presented severe fetal growth restriction and a ventricular septal defect; the second developed epilepsy, respiratory failure, and psychomotor delay. This genotype may be linked to a particularly severe cardiac phenotype. Our report broadens the clinical and genetic spectrum of VARS2-related mitochondrial disease, highlights the variability of phenotypic expression, and reinforces the importance of early molecular diagnosis in neonatal-onset cardiomyopathy. Genetic confirmation enables accurate genetic counselling and consideration of prenatal or preimplantation diagnosis in future pregnancies.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":"644-648"},"PeriodicalIF":1.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147961945","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":"[Impact of an Integrated Care Model in Patients with COPD and High Risk of Readmission].","authors":"Diana Organista, Maria Fátima Caetano, Jorge Lopes da Costa, Andreia Fernandes, Ana Almeida, Cátia Brás, Paula Ricardo, Maria João Figueiredo, Alexandra Ramos Cortês, Paula Cristina Reis, Fátima Rodrigues","doi":"10.20344/amp.24695","DOIUrl":"https://doi.org/10.20344/amp.24695","url":null,"abstract":"<p><p>Chronic obstructive pulmonary disease (COPD) is associated with high morbidity and healthcare utilization, particularly due to acute exacerbations leading to Emergency Department (ED) visits and hospital admissions. Patients with multimorbidity and social vulnerability are at increased risk of readmission. The aim of this study was to evaluate the impact of an early, multidisciplinary, integrated care model on ED visits and hospitalizations among high-risk patients with COPD. A single-center pre-post intervention study was conducted following implementation of the Early Pulmonology Assessment/Individualised and Integrated Care Plan (EPA/IICP) protocol in February 2024. High-risk patients were identified using the LACE Index (> 9, or 5 - 9 with additional risk factors). The intervention combined medical, nursing, and social assessment with hybrid follow-up (face-to-face and remote monitoring). The primary outcomes were the number of ED visits and hospitalizations in the year before and after enrolment. Paired Student's t-tests were used for analysis. Fifty-three patients were included (mean age 67.6 years; 62% male). Baseline comorbidity and readmission risk were high (mean Charlson index 4.5; mean LACE 13.8). After one year, mean ED visits decreased from 3.09 to 0.67 (p < 0.001), and hospitalizations from 1.39 to 0.33 (p < 0.001). Remote monitoring generated early clinical interventions, with only two admissions for severe respiratory failure. Social intervention enabled most patients to maintain or regain home-based care. An early, integrated, hybrid care model was associated with significant reductions in ED visits and hospitalizations in high-risk COPD patients. This approach may represent a sustainable strategy for managing complex chronic respiratory disease.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 10","pages":"630-634"},"PeriodicalIF":1.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149178618","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":"[p16/Ki-67 Dual Staining in the Triage of HPV-Positive Women: Necessary Innovation, Challenging Implementation].","authors":"Teresa Maria Rebelo Ferreira","doi":"10.20344/amp.24609","DOIUrl":"https://doi.org/10.20344/amp.24609","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 10","pages":"593-594"},"PeriodicalIF":1.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149178628","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":"[Neonatal Suction Blistering: Recognizing a Clinical Diagnosis in the Delivery Room].","authors":"Rita Silva Pereira, Marta Isabel Dias, Mafalda Cascais, Marisa Carvalho","doi":"10.20344/amp.24923","DOIUrl":"https://doi.org/10.20344/amp.24923","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 10","pages":"668-669"},"PeriodicalIF":1.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149178651","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":"Referral Delays to Specialized Palliative Care among Oncology Inpatients in a Portuguese Cancer Centre.","authors":"Pedro Antunes Meireles, Inês Vicente, Bernardo Pereira, Carolina Pereira, Sara Magno, Carolina Coelho, Madalena Feio, Cláudia Romão, Fátima Vaz","doi":"10.20344/amp.24418","DOIUrl":"10.20344/amp.24418","url":null,"abstract":"<p><p>Access to specialized palliative care is a key component of quality cancer care, yet delays remain common in Portugal and institution-level data on referral pathways are scarce. We performed a retrospective observational study including all oncology inpatients referred to specialized palliative care units at a Portuguese comprehensive cancer center between January 2022 and June 2024, and we analysed referral outcomes and waiting times from referral to admission or death. Of 3177 hospitalized oncology patients, 208 (6.5%) were referred to palliative care, and nearly two-thirds (63.0%) died before admission. The median waiting time from referral to admission was 29.5 days (IQR 20.0 - 41.0), while patients who were not admitted died a median of 34.0 days (IQR 20.0 - 54.0) after referral. Among admitted patients, median length of stay in palliative care units was 21.5 days (IQR 10.0 - 40.5). These findings show that most hospitalized oncology patients referred to specialized palliative care do not reach admission in time, reflecting substantial delays in access despite referral. Improving referral pathways and strengthening system capacity are essential to ensure timely palliative care for patients with advanced cancer in Portugal.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":"626-629"},"PeriodicalIF":1.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148051870","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":"[Making the Carcinogenic Risk of Alcohol Visible: Labelling Alcohol Beverages as a Public Health Strategy].","authors":"Dimey Roque Carvalho, João Pinheiro, Francisca Pulido Valente, Vasco Ricoca Peixoto","doi":"10.20344/amp.24784","DOIUrl":"https://doi.org/10.20344/amp.24784","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 10","pages":"595-598"},"PeriodicalIF":1.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149178687","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":"IgG Clearance Varies Between Patients with Secondary Antibody Deficiency Whilst on Similar Doses of Immunoglobulin Replacement Therapy.","authors":"Phoebe Li, Rebecca Avison, Sujoy Khan","doi":"10.20344/amp.25019","DOIUrl":"https://doi.org/10.20344/amp.25019","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 10","pages":"673-674"},"PeriodicalIF":1.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149178696","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":"[Reflections on Recent Amendments to the Gender Self-determination Law].","authors":"Miguel Lavrador, Sara Sousa, Margarida Fraga, Gustavo França","doi":"10.20344/amp.24917","DOIUrl":"10.20344/amp.24917","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":"675-676"},"PeriodicalIF":1.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148904886","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":"[Alcoholic Liver Disease Hospital Admissions in Portugal: Demographic, Geographic and Temporal Patterns (2013 - 2023)].","authors":"Carlos Aniceto, Mafalda Sousa-Uva, Rui Tato Marinho, Carlos Matias-Dias","doi":"10.20344/amp.24411","DOIUrl":"https://doi.org/10.20344/amp.24411","url":null,"abstract":"<p><strong>Introduction: </strong>Excessive alcohol consumption is a major global public health concern, contributing to injuries, morbidity, disability, and premature mortality. Alcoholic liver disease (ALD), encompassing conditions from steatosis to cirrhosis and hepatocellular carcinoma, represents a substantial proportion of alcohol-related hospital admissions in Portugal. The aim of this study was to describe the temporal, demographic, and geographic patterns of ALD hospital admission episodes in Mainland Portugal between 2013 and 2023.</p><p><strong>Methods: </strong>An ecological spatio-temporal study was conducted using hospital admission episode data with ALD as the principal diagnosis, obtained from the hospital morbidity database of the Ministry of Health. Population data were obtained from the National Statistics Institute. Crude rates were calculated by sex and age group, and age-standardized rates were calculated overall and stratified by sex, region, and municipality. Temporal trends were analyzed using negative binomial regression, with results expressed as rate ratios (RR) and 95% confidence intervals (CI). Spatial variation at the municipal level was assessed using Bayesian hierarchical models fitted with Integrated Nested Laplace Approximation.</p><p><strong>Results: </strong>A total of 37 158 ALD hospital admission episodes were analyzed. Between 2013 and 2023, the average annual age-standardized rate was 37.1 per 100 000 population (66.9 in men and 12.3 in women). A significant decreasing trend in hospital admission episode rates was observed (RR = 0.955; 95% CI: 0.943 - 0.968), corresponding to an average annual reduction of 4.5%, with similar patterns in both sexes. Higher rates were observed among men and in the 55 - 64 age group. Geographically, higher rates and spatial relative risks were generally observed in inland municipalities of the North and Centre regions, while lower values were observed in Alentejo.</p><p><strong>Conclusion: </strong>Despite the overall decline in ALD hospital admission episode rates during the study period, a consistent pattern was observed: higher admission rates among men (55 - 64 years) and in specific inland areas of Mainland Portugal, in agreement with the spatial distribution of relative risks. These findings describe patterns of hospital admission and underscore the need for continuous epidemiological monitoring to support geographically targeted interventions, including prevention of harmful alcohol consumption and improved management of ALD-related hospital admissions.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 10","pages":"617-625"},"PeriodicalIF":1.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149178621","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":"Inaugural Diagnosis of Lupus Nephritis During the Third Trimester of Pregnancy.","authors":"Mafalda Florenciano, Maria Pulido Valente, Ana Rita Machado, Susana Capela, Estela Nogueira, Luísa Pinto","doi":"10.20344/amp.25111","DOIUrl":"https://doi.org/10.20344/amp.25111","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 10","pages":"670-671"},"PeriodicalIF":1.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149178631","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}