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Acta medica portuguesa最新文献

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A Complex Case of Koolen-De Vries Syndrome Associated with Hypopituitarism and Type 1 Diabetes Mellitus. 库伦-德-弗里斯综合征合并垂体功能减退和1型糖尿病1例。
IF 1 4区 医学
Acta medica portuguesa Pub Date : 2025-12-02 Epub Date: 2025-10-15 DOI: 10.20344/amp.22709
Mafalda Félix Cabral, Francisco Branco Caetano, Carla Conceição, Diana Oliveira Antunes, Lurdes Lopes
{"title":"A Complex Case of Koolen-De Vries Syndrome Associated with Hypopituitarism and Type 1 Diabetes Mellitus.","authors":"Mafalda Félix Cabral, Francisco Branco Caetano, Carla Conceição, Diana Oliveira Antunes, Lurdes Lopes","doi":"10.20344/amp.22709","DOIUrl":"10.20344/amp.22709","url":null,"abstract":"<p><p>Complex diseases arise from the interplay of genetic and environmental factors. We present a case where complex diseases seem to coexist. A 12-month-old girl was referred for short stature and hypotonia. Initial evaluation revealed central hypothyroidism, growth hormone deficiency and a small pituitary gland with ectopic neurohypophysis. Replacement therapy improved growth, but developmental delay and strabismus ensued. At age 10, she experienced a first seizure treated with levetiracetam. At age 12, she presented diabetic ketoacidosis and functional insulin therapy was started; positive autoantibodies confirmed autoimmune etiology. Initial genetic testing performed by microarray analysis retrieved normal results, but exome sequencing revealed a heterozygous pathogenic variant in KANSL1 gene, allowing for the diagnosis of Koolen-de Vries syndrome. In this patient, Koolen-de Vries syndrome presented initially as hypopituitarism and only later epilepsy. Afterwards, type 1 diabetes mellitus ensued, highlighting the complexity of intertwined conditions.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":"808-811"},"PeriodicalIF":1.0,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145297939","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
Minimally Symptomatic Primary Hyperparathyroidism with Brown Tumor in a Young Adult. 原发性轻度症状甲状旁腺功能亢进伴棕色肿瘤1例。
IF 1 4区 医学
Acta medica portuguesa Pub Date : 2025-12-02 DOI: 10.20344/amp.23646
Eva Borges, Vanessa Rebelo Santos, David Aparício, José Girão, José Rocha
{"title":"Minimally Symptomatic Primary Hyperparathyroidism with Brown Tumor in a Young Adult.","authors":"Eva Borges, Vanessa Rebelo Santos, David Aparício, José Girão, José Rocha","doi":"10.20344/amp.23646","DOIUrl":"https://doi.org/10.20344/amp.23646","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 12","pages":"836-837"},"PeriodicalIF":1.0,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145699697","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
Atypical Scrotal Manifestation of Madelung's Disease. 马德隆病的不典型阴囊表现。
IF 1 4区 医学
Acta medica portuguesa Pub Date : 2025-12-02 DOI: 10.20344/amp.23743
Paulo André Viana de Araújo, Diogo José Gomes Garrido, Isabel Cristina da Silva Basto Simões de Paivas
{"title":"Atypical Scrotal Manifestation of Madelung's Disease.","authors":"Paulo André Viana de Araújo, Diogo José Gomes Garrido, Isabel Cristina da Silva Basto Simões de Paivas","doi":"10.20344/amp.23743","DOIUrl":"https://doi.org/10.20344/amp.23743","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 12","pages":"832-833"},"PeriodicalIF":1.0,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145699702","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
Addressing the Risks of the New Tobacco Product Wave in Portugal. 应对葡萄牙新烟草产品浪潮的风险。
IF 1 4区 医学
Acta medica portuguesa Pub Date : 2025-12-02 Epub Date: 2025-09-12 DOI: 10.20344/amp.23143
André Vicente, Luís Neves, Teresa Leão
{"title":"Addressing the Risks of the New Tobacco Product Wave in Portugal.","authors":"André Vicente, Luís Neves, Teresa Leão","doi":"10.20344/amp.23143","DOIUrl":"10.20344/amp.23143","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":"762-764"},"PeriodicalIF":1.0,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145038792","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
Strongyloides stercoralis Hyperinfection in Pemphigus Vulgaris: A Neglected Preventable Fatality. 寻常型天疱疮的粪类圆杆菌过度感染：一种被忽视的可预防的死亡。
IF 1 4区 医学
Acta medica portuguesa Pub Date : 2025-12-02 DOI: 10.20344/amp.23728
Nathkapach Kaewpitoon Rattanapitoon, Natthawut Charoenphon, Khristine Laguador Sandoval, Schawanya Kaewpitoon Rattanapitoon
{"title":"Strongyloides stercoralis Hyperinfection in Pemphigus Vulgaris: A Neglected Preventable Fatality.","authors":"Nathkapach Kaewpitoon Rattanapitoon, Natthawut Charoenphon, Khristine Laguador Sandoval, Schawanya Kaewpitoon Rattanapitoon","doi":"10.20344/amp.23728","DOIUrl":"https://doi.org/10.20344/amp.23728","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 12","pages":"838-839"},"PeriodicalIF":1.0,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145699636","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
Why Do We Reject So Many Articles in Acta Médica Portuguesa? 为什么我们会拒绝《葡萄牙医学会学报》上的那么多文章？
IF 1 4区 医学
Acta medica portuguesa Pub Date : 2025-12-02 DOI: 10.20344/amp.24098
Tiago Villanueva, Helena Donato
{"title":"Why Do We Reject So Many Articles in Acta Médica Portuguesa?","authors":"Tiago Villanueva, Helena Donato","doi":"10.20344/amp.24098","DOIUrl":"https://doi.org/10.20344/amp.24098","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 12","pages":"759-761"},"PeriodicalIF":1.0,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145699650","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
A Rare Case of Multidermatomal Herpes Zoster. 一例罕见的多皮瘤带状疱疹。
IF 1 4区 医学
Acta medica portuguesa Pub Date : 2025-12-02 DOI: 10.20344/amp.23613
Soraia Ribeiro Fernandes, Albino Martins, Susana Vilar Santos, Rita De Faria, João Vila Real Fernandes
{"title":"A Rare Case of Multidermatomal Herpes Zoster.","authors":"Soraia Ribeiro Fernandes, Albino Martins, Susana Vilar Santos, Rita De Faria, João Vila Real Fernandes","doi":"10.20344/amp.23613","DOIUrl":"https://doi.org/10.20344/amp.23613","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 12","pages":"830-831"},"PeriodicalIF":1.0,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145699653","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
Healthy Life Years After 65: Building on Portugal's Progress with Stronger Geriatric Medicine. 65岁以后的健康生活：在葡萄牙进步的基础上加强老年医学。
IF 1 4区 医学
Acta medica portuguesa Pub Date : 2025-12-02 DOI: 10.20344/amp.23872
Catarina Cabrita, Filipa Fialho Reis, Ana Margarida Silva, Hugo Alexandre Ferreira, Mariana Alves
{"title":"Healthy Life Years After 65: Building on Portugal's Progress with Stronger Geriatric Medicine.","authors":"Catarina Cabrita, Filipa Fialho Reis, Ana Margarida Silva, Hugo Alexandre Ferreira, Mariana Alves","doi":"10.20344/amp.23872","DOIUrl":"https://doi.org/10.20344/amp.23872","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 12","pages":"840-841"},"PeriodicalIF":1.0,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145699667","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
Patients with Substance Use Disorders: Challenges During Non-Psychiatric Inpatient Care. 物质使用障碍患者：非精神科住院治疗期间的挑战。
IF 1 4区 医学
Acta medica portuguesa Pub Date : 2025-12-02 DOI: 10.20344/amp.23793
Marta Ribeiro, Ana Lourenço
{"title":"Patients with Substance Use Disorders: Challenges During Non-Psychiatric Inpatient Care.","authors":"Marta Ribeiro, Ana Lourenço","doi":"10.20344/amp.23793","DOIUrl":"https://doi.org/10.20344/amp.23793","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 12","pages":"834-835"},"PeriodicalIF":1.0,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145699710","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
Retropharyngeal Lymph Node Metastases in Papillary Thyroid Carcinoma: A Case Series and Literature Review. 甲状腺乳头状癌咽后淋巴结转移：一个病例系列和文献回顾。
IF 1 4区 医学
Acta medica portuguesa Pub Date : 2025-12-02 Epub Date: 2025-10-10 DOI: 10.20344/amp.22908
Henrique Pina, Daniela Cavaco, Ricardo Nogueira, Valeriano Leite
{"title":"Retropharyngeal Lymph Node Metastases in Papillary Thyroid Carcinoma: A Case Series and Literature Review.","authors":"Henrique Pina, Daniela Cavaco, Ricardo Nogueira, Valeriano Leite","doi":"10.20344/amp.22908","DOIUrl":"10.20344/amp.22908","url":null,"abstract":"<p><strong>Introduction: </strong>The prevalence of retropharyngeal lymph node metastases in papillary thyroid carcinoma is low. The objective of this retrospective study was to assess our institutional experience with the management of such metastases and to compare results with other published series.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of patients diagnosed with papillary thyroid carcinoma and retropharyngeal lymph node metastases who were followed at the Endocrinology Department of the Instituto Português de Oncologia de Lisboa Francisco Gentil. To identify published cases in the literature, a comprehensive search was conducted using the Medline and PubMed databases from January 1970 to June 2025.</p><p><strong>Results: </strong>We have identified a total of 15 patients. Twelve (80.0%) were women. The median age at initial surgery was 55.7 years (range 20.6 - 84.0 years) and the median duration of follow-up was 9.8 years (range 0.5 - 36.3 years). Five patients (33.3%) were diagnosed with retropharyngeal lymph node metastases during initial tumor staging and 10 (66.7%) in the follow-up, in eight patients (80.0%) due to biochemical persistence of the disease, and in two (20.0%) after cervical lymph node recurrence. Of the 15 patients, seven (46.7%) received no treatment for retropharyngeal lymph node metastases (surveillance group), and eight (53.3%) were treated (therapy group) and, from these, four (26.7%) underwent surgery, two (13.3%) received radiotherapy, one (6.7%) underwent radiosurgery and one (6.7%) underwent both surgery and radiotherapy.</p><p><strong>Conclusion: </strong>Most patients with retropharyngeal lymph node metastases are diagnosed post-thyroidectomy, due to biochemical persistence of the disease or cervical lymphatic recurrence. Retropharyngeal lymph node metastases are commonly single and located ipsilaterally to the primary tumor and co-occur frequently with distant metastases.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":" ","pages":"765-772"},"PeriodicalIF":1.0,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145273369","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
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