Acta medica portuguesa最新文献_第3页

Cutaneous Signatures of Hypercortisolism: Violaceous Striae in Exogenous Cushing's Syndrome. 高皮质醇血症的皮肤特征：外源性库欣综合征的紫色条纹。

IF 1.2 4区医学

Acta medica portuguesa Pub Date : 2026-09-14 DOI: 10.20344/amp.24937

Sofia F Silva, Leonor Pinto, Joana Simões-Pereira

引用次数: 0

Targeting IDH1: Long-Term Efficacy and Tolerance of Ivosidenib in Advanced Chondrosarcoma. 靶向IDH1：伊沃西地尼治疗晚期软骨肉瘤的长期疗效和耐受性。

IF 1.2 4区医学

Acta medica portuguesa Pub Date : 2026-09-11 DOI: 10.20344/amp.24606

Diana Russo, Mariana Afonso, Augusto Moreira, Joana Mendonça, Miguel Abreu

引用次数: 0

[When Treatment-Resistant Depression is Not Resistance]. [当难治性抑郁症不是抵抗]。

IF 1.2 4区医学

Acta medica portuguesa Pub Date : 2026-09-01 DOI: 10.20344/amp.24800

Daniel Areias, Rita Dionísio, Francisco Coutinho

引用次数: 0

Referral in Mild Cognitive Impairment: Subjectivity or Uncalibrated Prudence? 轻度认知障碍的转诊：主观性还是未经校准的谨慎？

IF 1.2 4区医学

Acta medica portuguesa Pub Date : 2026-09-01 DOI: 10.20344/amp.24450

Carlos Acosta-Batista

引用次数: 0

From Obesity to Bigorexia: A Clinical Case Report. 从肥胖到厌食症：1例临床报告。

IF 1.2 4区医学

Acta medica portuguesa Pub Date : 2026-09-01 Epub Date: 2026-07-24 DOI: 10.20344/amp.24473

Inês Eiras, Maria Inês Sousa, Ana Bandeira Santos, Filipe Oliveira, Paula Fonseca

引用次数: 0

Diagnostic Performance of the Cancer Ratio in Malignant Pleural Effusion in Combination with the Light's Criteria. 恶性胸腔积液癌率结合Light标准的诊断价值。

IF 1.2 4区医学

Acta medica portuguesa Pub Date : 2026-09-01 Epub Date: 2026-06-08 DOI: 10.20344/amp.24234

Maria João Cavaco, Sofia Fontão Alves, Catarina Silva, Sofia Pimentel, Luís Mateus, Carina Rôlo Silvestre, Joana Ferra, Daniel Duarte, Carla Cardoso, Paula Raimundo, Teresa Falcão

{"title":"Diagnostic Performance of the Cancer Ratio in Malignant Pleural Effusion in Combination with the Light's Criteria.","authors":"Maria João Cavaco, Sofia Fontão Alves, Catarina Silva, Sofia Pimentel, Luís Mateus, Carina Rôlo Silvestre, Joana Ferra, Daniel Duarte, Carla Cardoso, Paula Raimundo, Teresa Falcão","doi":"10.20344/amp.24234","DOIUrl":"10.20344/amp.24234","url":null,"abstract":"The cancer ratio (CR), defined as serum lactate dehydrogenase to pleural fluid adenosine deaminase ratio (sLDH/pADA), has emerged as a diagnostic marker for malignant pleural effusion (MPE). However, previous studies have primarily compared MPE with exudative effusions, excluding transudates. The aim of this study was to determine the diagnostic accuracy of CR in differentiating MPE from benign pleural effusions (BPE), including both exudates and transudates. An observational analysis was conducted on patients with pleural effusion (PE) evaluated in a Portuguese center between January 2017 and August 2025. Diagnostic accuracy was assessed using receiver operating characteristic curves and area under the curve (AUC) analysis. Of the 423 PE evaluated, 154 (36.4%) were MPE and 269 (63.6%) were BPE, including 82 transudates, 159 true benign exudates (TBEPE) and 28 PE misclassified as exudates. Significantly higher CR levels were observed in MPE than in BPE (p < 0.001). When comparing MPE with TBEPE, a CR threshold of 20 yielded an AUC of 0.90, with 76.0% sensitivity and 93.1% specificity. The inclusion of misclassified exudative BPE and transudates reduced diagnostic accuracy (AUC 0.86/0.73, respectively). In conclusion, a CR > 20 is highly predictive of malignancy etiology. Accurate pre-classification according to the Light's criteria is essential to preserve the diagnostic validity of this biomarker.","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":"544-546"},"PeriodicalIF":1.2,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148203841","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}

引用次数: 0

[When the Larynx Reveals the Unlikely: Cryptococcosis in an Immunocompetent Patient]. [当喉部显示不可能：免疫正常患者的隐球菌病]。

IF 1.2 4区医学

Acta medica portuguesa Pub Date : 2026-09-01 DOI: 10.20344/amp.24517

Rita Teixeira Carvalho, José Ricardo Brandão, Mariline Santos, João Carvalho Almeida, João Lino

引用次数: 0

Immune Dysregulation, Polyendocrinopathy and Enteropathy X-Linked Syndrome with Neonatal Onset: A Case Report. 新生儿发病的免疫失调、多内分泌病变和肠病x连锁综合征1例报告。

IF 1.2 4区医学

Acta medica portuguesa Pub Date : 2026-09-01 Epub Date: 2026-02-23 DOI: 10.20344/amp.23795

Joana Costa Branco, Margarida Cunha, Ana Dias Curado, Inês Girbal, Isabel Esteves, Sandra Valente

{"title":"Immune Dysregulation, Polyendocrinopathy and Enteropathy X-Linked Syndrome with Neonatal Onset: A Case Report.","authors":"Joana Costa Branco, Margarida Cunha, Ana Dias Curado, Inês Girbal, Isabel Esteves, Sandra Valente","doi":"10.20344/amp.23795","DOIUrl":"10.20344/amp.23795","url":null,"abstract":"Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare monogenic autoimmune disorder caused by mutations in the FOXP3 gene. It typically presents in early infancy with severe multisystem autoimmunity. We report the case of a male preterm infant, born at 30 weeks' gestation, who developed enteropathy, eczema, eosinophilia, and transfusion-dependent cytopenias. Recurrent infections and a desquamative rash raised suspicion of an inborn error of immunity. Immunological studies revealed absent FOXP3 expression, and genetic testing confirmed a hemizygous pathogenic variant in FOXP3 (c.1076C>T), establishing the diagnosis. Immunosuppressive therapy with corticosteroids and sirolimus was initiated, and the patient was referred for hematopoietic stem cell transplantation. From the cases reported in the literature, this is the first neonatal onset case of IPEX reported in Portugal. This case highlights the importance of suspecting IPEX syndrome in infants with early-onset autoimmunity and immunodeficiency, enabling timely diagnosis and improved outcomes in this life-threatening condition.","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":"555-558"},"PeriodicalIF":1.2,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147269301","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}

引用次数: 0

[Reflections on Free Play, Boredom, and Frustration in Child Development]. 关于儿童发展中的自由游戏、无聊和挫折的思考。

IF 1.2 4区医学

Acta medica portuguesa Pub Date : 2026-09-01 DOI: 10.20344/amp.25122

Vanessa Albino, Patrícia Lopes

引用次数: 0

Challenges with Congenital Lung Cysts: When to Consider DICER1 Testing? A Narrative Review. 先天性肺囊肿的挑战：何时考虑DICER1检测？叙述性评论。

IF 1.2 4区医学

Acta medica portuguesa Pub Date : 2026-09-01 Epub Date: 2026-02-20 DOI: 10.20344/amp.23967

Gustavo Marcondes Rocha, Louis P Dehner, Damon R Olson, Kris Ann P Schultz

{"title":"Challenges with Congenital Lung Cysts: When to Consider DICER1 Testing? A Narrative Review.","authors":"Gustavo Marcondes Rocha, Louis P Dehner, Damon R Olson, Kris Ann P Schultz","doi":"10.20344/amp.23967","DOIUrl":"10.20344/amp.23967","url":null,"abstract":"Congenital pulmonary airway malformations (CPAMs), according to the Stocker classification, comprise five types, two of which are non-cystic in nature (types 0 and 3) whereas the others present as cystic lung lesions (types 1, 2 and 4). While there is consensus that symptomatic lesions should be managed surgically, the asymptomatic cases are more problematic in terms of therapeutic intervention. The dilemma is further complicated by CPAM types 1 and 4 and their preneoplastic potential. In the case of CPAM type 1, there are reports of lipidic adenocarcinoma arising from the mucinous component. Type 4 has been equated to type I or cystic pleuropulmonary blastoma (PPB), a proposition that has been challenged in the past. Pleuropulmonary blastoma is associated with a heterozygous germline or somatic variants in DICER1. It was recognized that the earliest stage of the sarcomatous progression of PPB was a multicystic lesion in the periphery of the lung whose architectural features were identical to CPAM type 4. This narrative review addresses key aspects of the pathogenetic and diagnostic issues of type I PPB/CPAM type 4, as well as the association of DICER1 and PPB, offering valuable insights for pediatricians and clinicians caring for young adults who are impacted by the presence of a germline DICER1 variant.","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":"547-554"},"PeriodicalIF":1.2,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146256942","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}

引用次数: 0