Acta medica portuguesa最新文献

{"title":"Pheochromocytoma and Paraganglioma: Incidence and Comparative Analysis Between Familial and Sporadic Cases in a Portuguese Single Center.","authors":"Patrícia Da Cunha Brito, Natacha Paixão, Diana Borges Duarte","doi":"10.20344/amp.24192","DOIUrl":"10.20344/amp.24192","url":null,"abstract":"<p><p>Pheochromocytomas and paragangliomas are rare neuroendocrine tumors, with an estimated incidence rate of two to eight cases per million people, and one of the highest heritability rates among neoplasms, with a genetic cause identified in approximately 40% of cases. This study analyzed cases diagnosed within the referral area of Unidade Local de Saúde de Braga between 2004 and 2024, aiming to estimate incidence, characterize the population, and compare sporadic and familial pheochromocytomas and paragangliomas. A total of 85 patients were identified, corresponding to 87 cases, with an average annual incidence of 5.3 cases per million between 2012 and 2024 and a rising trend over the study period. Genetic testing was performed in 61 patients, revealing 43 sporadic and 20 familial cases. The age at diagnosis was significantly lower in familial cases (43.4 ± 12.7 years; p < 0.001). Metastatic disease occurred only in patients with familial pheochromocytomas and paragangliomas, four and six years after diagnosis, while recurrences were observed exclusively in sporadic cases, with a median of seven years after complete remission. These findings highlight the importance of genetic testing and long-term follow-up in patients with pheochromocytoma and paraganglioma, given the risk of metastasis and recurrence even several years after the initial diagnosis.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 5","pages":"344-348"},"PeriodicalIF":1.2,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147855599","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":"[Retropharyngeal Metastasis: A Rare and Frequently Aggressive Presentation of Papillary Thyroid Carcinoma].","authors":"Mariana Caldeira, Carmen Alonso, Ana Branco, Telma Mendes, Paula Soares","doi":"10.20344/amp.24464","DOIUrl":"https://doi.org/10.20344/amp.24464","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 5","pages":"323-325"},"PeriodicalIF":1.0,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147855512","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":"[Mechanical Insufflation-Exsufflation: A Strategy in Oncological Palliative Care].","authors":"Gonçalo Soares, Inês Santos, Maria Teresa Amaral","doi":"10.20344/amp.24324","DOIUrl":"https://doi.org/10.20344/amp.24324","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 5","pages":"374"},"PeriodicalIF":1.0,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147855610","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":"[Valproate‑Associated Acute Pancreatitis in a Child with Autism Spectrum Disorder].","authors":"Catarina M Nascimento, Sandra Pires","doi":"10.20344/amp.24269","DOIUrl":"https://doi.org/10.20344/amp.24269","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 5","pages":"377-378"},"PeriodicalIF":1.0,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147855575","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":"Universal Screening for Sexually Transmitted Infections in Pregnancy: An Urgent Need in Portugal.","authors":"Swasilanne Bandeira, Joana Vasconcelos, Mariana Teixeira, Beatriz Costa, Paula Rocha","doi":"10.20344/amp.24190","DOIUrl":"https://doi.org/10.20344/amp.24190","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 5","pages":"372-373"},"PeriodicalIF":1.0,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147855537","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":"[Immunoglobulin Replacement Therapy in Antibody Production Defects].","authors":"Ana Bernardino, Nuzhat Abdurrachid, Cláudia Varandas, Ruben Duarte Ferreira, Emília Faria, Sara P Silva, Susana L Silva","doi":"10.20344/amp.24119","DOIUrl":"10.20344/amp.24119","url":null,"abstract":"<p><p>Immunoglobulin replacement therapy is an essential approach for treating patients with inborn errors of immunity that impair humoral response. The main goal of immunoglobulin replacement treatment is to provide antibodies passively, preventing severe or recurrent infections, as well as medium/long-term complications. Currently, there are different administration routes: intravenous, conventional subcutaneous, and facilitated subcutaneous with recombinant hyaluronidase. Therefore, the choice of the administration route should be individualized, with the active participation of the patient and guidance from healthcare professionals regarding the advantages and limitations of each option. This guideline aims to clarify the available immunoglobulin treatment modalities, provide practical guidance for their selection, and thereby promote better treatment adherence and effectiveness, leading to improved clinical stability for patients.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 5","pages":"366-371"},"PeriodicalIF":1.2,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147855514","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 Health Care and the Potential for Coordination with Human Milk Banks].","authors":"Mafalda Fabrício de Almeida, Ana Lúcia Torgal, Israel Macedo, Cristiano Figueiredo","doi":"10.20344/amp.24187","DOIUrl":"https://doi.org/10.20344/amp.24187","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 4","pages":"243-245"},"PeriodicalIF":1.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147632225","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":"Skin, Uterus, and Genes: When Painful Skin Lesions Tell a Familial Syndrome.","authors":"Ivânia Soares, Inês Pereira-Amaral, Pedro De Vasconcelos, Paulo Filipe","doi":"10.20344/amp.24215","DOIUrl":"https://doi.org/10.20344/amp.24215","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"39 4","pages":"321-322"},"PeriodicalIF":1.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147632487","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":"[Use of Natriuretic Peptides in the Diagnosis of Heart Failure in Primary Healthcare in Portugal: A Proposal from Clinical and Laboratory Experts].","authors":"Mário Santos, Cristina Gavina, Elisabete Martins, Irene Marques, André Biscaia, Filipe Cabral, Jorge Nunes Oliveira, Manuel Cirne Carvalho, Margarida Albuquerque, Rui Pinto, Célia Ramalho, Eduardo Calçada","doi":"10.20344/amp.23998","DOIUrl":"10.20344/amp.23998","url":null,"abstract":"<p><p>Heart failure (HF) remains a major clinical and public health challenge in Portugal, associated with high morbidity, mortality, and economic burden. Despite notable therapeutic advances, the degree of underdiagnosis in Portugal remains substantial, as evidenced by findings from the recent Portuguese Heart Failure Prevalence Observational Study (PORTHOS), which estimated that 90% of identified cases corresponded to new diagnoses. Early detection of HF in primary care (PC) is crucial for the implementation of cost-effective strategies capable of modifying the disease course. Natriuretic peptides, particularly NT-proBNP, have consistently demonstrated robust utility as a tool for ruling-out HF diagnosis and are recommended by leading international societies for outpatient use due to their reliability and analytical stability. In Portugal, however, several barriers hinder their systematic use in primary care, including the absence of specific NT proBNP coding within prescribing and laboratory reporting systems, as well as persistent uncertainty regarding appropriate reference values. To address these gaps, a multidisciplinary working group was convened, including representatives from Cardiology, Internal Medicine, and General Practice/Family Medicine, in collaboration with the Portuguese Society of Cardiology and its Heart Failure Working Group, the Heart Failure Study Group of the Portuguese Society of Internal Medicine, the Portuguese Association of Family Medicine, the National Association of Family Health Units, the National Association of Clinical Laboratories, and the Portuguese Association of Clinical Analysts. This document, resulting from a literature review and structured expert consensus, proposes three technical recommendations to foster the appropriate and standardized use of NT-proBNP in Portuguese PC: (1) the use of NT-proBNP as the preferred biomarker for HF diagnosis in primary care; (2) the adoption of NT-proBNP cut-off values for exclusion (rule-out) and confirmation (rule-in) of HF, in alignment with international recommendations; and (3) the implementation of specific reporting guidance for clinical laboratories. Furthermore, it calls upon national health authorities to effectively integrate NT-proBNP into the National Health System, thereby contributing to reducing HF underdiagnosis in Portugal and improving health outcomes.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":"305-311"},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146163470","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":"Novel SERPING1 Genetic Variant in Two Family Members with Hereditary Angioedema.","authors":"Sofia Cosme Ferreira, Alexandra Rosa, Filipa Sousa, Alejandro Mendoza-Alvarez, Rafaela González-Montelongo, Ariel Callero, Carlos Flores, Rita Câmara","doi":"10.20344/amp.24214","DOIUrl":"10.20344/amp.24214","url":null,"abstract":"<p><p>Hereditary angioedema is a rare, autosomal dominant, genetic disorder characterized by recurrent episodes of angioedema. Over 800 SERPING1 gene variants have been reported, and their clinical profiles and causal genetic variants are highly heterogeneous. We report two cases of hereditary angioedema (HAE) in a Portuguese family: a 27-year-old male, under lanadelumab, and his 57-year-old father, kept on on-demand treatment. Genetic testing was performed following international guidelines. The Hereditary Angioedema Database Annotation highlighted a heterozygous insertion at exon 3 (c.336_337insC). This variant predicts a frameshift of the transcript, with the introduction of a premature STOP codon in C1-INH protein (p.Ser113LeufsTer20). We report the identification of a novel pathogenic SERPING1 variant in a family with HAE type 1, assisted by the Hereditary Angioedema Database Annotation variant prioritization tool. Our results may contribute to the identification of additional families with the same variant and can further enhance the knowledge about this condition.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":"299-302"},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146148696","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}