{"title":"Síndrome hereditária hiperferritinemia-catarata: caso clínico.","authors":"Carolina Fernandes, Cláudia Diogo, Cristiana Malhó, Filipa Alçada, Sónia Campos","doi":"10.20344/amp.22524","DOIUrl":"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":"2025-05-02","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}
{"title":"Chilblains as a Clue for the Diagnosis of Essential Thrombocythemia.","authors":"Hugo J Leme, José Ramos, Ângela Roda","doi":"10.20344/amp.22842","DOIUrl":"https://doi.org/10.20344/amp.22842","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 5","pages":"352-353"},"PeriodicalIF":0.8,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143957513","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}
Margarida Borges, Edgar Almeida, Rui Alves, Raquel Ascenção, Miguel Bigotte Vieira, Carolina Bulhosa, João Costa, Gonçalo S Duarte, Luís Falcão, Manuel Pestana, João Raposo, Filipa Sampaio, Josefina Santos, Ana Paula Silva, Luís Silva Miguel
{"title":"[Costs and Consequences of Chronic Kidney Disease in People with Diabetes in Portugal: A Modelling Study].","authors":"Margarida Borges, Edgar Almeida, Rui Alves, Raquel Ascenção, Miguel Bigotte Vieira, Carolina Bulhosa, João Costa, Gonçalo S Duarte, Luís Falcão, Manuel Pestana, João Raposo, Filipa Sampaio, Josefina Santos, Ana Paula Silva, Luís Silva Miguel","doi":"10.20344/amp.22573","DOIUrl":"https://doi.org/10.20344/amp.22573","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic kidney disease is the fastest-growing chronic disease in terms of prevalence and one of the biggest causes of global mortality according to the Global Burden of Disease Collaboration. This study aimed to project the natural disease progression of this disease in people with diabetes, and to quantify the costs and consequences in the Portuguese context. This was achieved by developing an analytical model reflecting the epidemiology of chronic kidney disease and integrating the various stages of disease progression.</p><p><strong>Methods: </strong>A population-based cohort Markov model was used, to follow an adult cohort of people with diabetes and chronic kidney disease as they progressed through different risk categories, in annual cycles, over a period of 50 years. The model considered the natural progression of chronic kidney disease through 18 risk categories based on the KDIGO classification system, as well as the probability of patients receiving renal replacement therapy, including dialysis and kidney transplantation, and the probability of death. Each stage is associated with an annual cost and a disability weight, so the model allowed survival, years lived with disability and lifetime costs to be estimated for the entire population with chronic kidney disease and for patients in different risk categories.</p><p><strong>Results: </strong>Over the cohort´s lifetime, the model estimated, for the total population with chronic kidney disease and diabetes, an average survival of 8.62 years, with 0.59 years lived with disability, and an average cost of €24 613. These figures correspond to a loss of more than 410 000 years lived with disability and a total lifetime cost of 17.0 billion euros. The progression of this disease was associated with lower survival, more years lived with disability and higher costs.</p><p><strong>Conclusion: </strong>The results of this study characterize the natural progression of chronic kidney disease in people with diabetes mellitus type 2, as well as the associated costs and consequences in the national context. Since diabetes mellitus type 2 is a risk factor for chronic kidney disease, it is expected that the real impact will be greater than estimated in the coming decades. Analysis by risk level shows that progression of the disease is associated with worse outcomes.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 5","pages":"307-316"},"PeriodicalIF":0.8,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143951844","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}
Tiago Torres, Joana Antunes, Rui Tavares Bello, Paulo Varela, Martinha Henrique, Gabriela Marques Pinto, Américo Figueiredo, Osvaldo Correia, Paulo Filipe, Francisco Menezes Brandão
{"title":"Update on Generalized Pustular Psoriasis.","authors":"Tiago Torres, Joana Antunes, Rui Tavares Bello, Paulo Varela, Martinha Henrique, Gabriela Marques Pinto, Américo Figueiredo, Osvaldo Correia, Paulo Filipe, Francisco Menezes Brandão","doi":"10.20344/amp.22672","DOIUrl":"10.20344/amp.22672","url":null,"abstract":"<p><p>Generalized pustular psoriasis (GPP) is a rare but severe inflammatory skin disease characterized by the eruption of widespread sterile pustules, often accompanied by systemic inflammation. Although GPP can coexist with plaque psoriasis, it is increasingly recognized as a distinct entity with unique clinicopathological, immunologic, and genetic features. The dysregulated IL-36 pathway, including mutations in the IL36RN gene, is implicated in GPP pathogenesis, providing a molecular basis for targeted therapies. Diagnosing GPP requires a comprehensive evaluation, including clinical presentation, potential triggers, patient history, histopathologic findings, and laboratory results. Disease severity must be assessed through both cutaneous symptoms and systemic involvement, as GPP flares can lead to life-threatening complications such as sepsis and multi-organ failure. Historically, GPP treatment primarily relied on therapies approved for plaque psoriasis, despite their limited specificity for this condition. Recent advances in understanding the molecular mechanisms of GPP, particularly the central role of interleukin-36 pathway, have led to the development of targeted therapies for this rare condition. Currently, spesolimab is the only therapy specifically approved for treating GPP flares in adolescents and adults, in both Europe and the United States of America. However, the management of GPP remains complex and challenging. This narrative review provides an overview of the epidemiology, pathophysiology, clinical features, comorbidities, and evolving therapeutic strategies for GPP.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 5","pages":"321-330"},"PeriodicalIF":0.8,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143955646","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}
Pedro Mota, Jorge Encantado, Laura C Carvalho, Catarina Cunha, Albert Garcia-Romeu, Matthew W Johnson, Pedro J Teixeira
{"title":"Attitudes and Perceptions of Portuguese Psychiatrists and Psychologists on the Clinical Use of Ketamine.","authors":"Pedro Mota, Jorge Encantado, Laura C Carvalho, Catarina Cunha, Albert Garcia-Romeu, Matthew W Johnson, Pedro J Teixeira","doi":"10.20344/amp.22815","DOIUrl":"https://doi.org/10.20344/amp.22815","url":null,"abstract":"<p><strong>Introduction: </strong>Ketamine has garnered attention for its rapid efficacy in alleviating depressive symptoms in treatment-resistant depression, offering a novel mechanism as a non-monoaminergic agent. Despite its potential, limited research has explored mental health professionals' perspectives on its use. This study assesses the attitudes, knowledge, and concerns of Portuguese psychiatrists and psychologists regarding the clinical application of ketamine in treatment-resistant depression.</p><p><strong>Methods: </strong>A cross-sectional survey study was conducted from June 2022 to January 2024 among Portuguese psychiatrists and psychologists. The anonymous online questionnaire assessed perceptions of ketamine's therapeutic utility, risks, and knowledge sources. Statistical analyses examined subgroup differences by age, sex, profession, and prior psychedelic use.</p><p><strong>Results: </strong>Among 156 participants (mean age = 37.2; 68.6% female), 53.8% were psychologists, and 46.2% were psychiatrists or trainees in Psychiatry. Only 35.9% reported substantial knowledge of ketamine's therapeutic potential, while 59% were open to integrating it clinically. The majority expressed interest in training, though 73% raised concerns about inadequate professional training. Significant differences emerged, with psychiatrists reporting higher knowledge levels and openness to ketamine compared to psychologists, while younger professionals showed greater interest in training and usage.</p><p><strong>Conclusion: </strong>There was a favorable attitude toward ketamine use among Portuguese psychiatrists and psychologists, yet substantial educational gaps remain. Customized training addressing age, sex, and professional background is essential for safe and effective clinical integration of ketamine in treatment-resistant depression. Further studies should focus on longitudinal outcomes of ketamine treatment under standardized protocols to ensure efficacy and safety in clinical practice.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 5","pages":"297-306"},"PeriodicalIF":0.8,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143957217","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":"Reusing Patient Data to Train Artificial Intelligence for Medical Devices in the European Union.","authors":"Yuri Ladeia, Nuno Sousa","doi":"10.20344/amp.22509","DOIUrl":"https://doi.org/10.20344/amp.22509","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 5","pages":"285-287"},"PeriodicalIF":0.8,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143957941","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":"Evaluation of Survival and Neurodevelopment in Neonates Born Very Preterm at a Tertiary Centre in Portugal.","authors":"Margarida Camacho-Sampaio, Catarina Cordeiro, Catarina Leuzinger-Dias, Ana Dias, Dolores Faria, Adelaide Taborda","doi":"10.20344/amp.22345","DOIUrl":"https://doi.org/10.20344/amp.22345","url":null,"abstract":"<p><strong>Introduction: </strong>Advances in medical care have significantly improved survival rates for preterm infants globally, leading to an increase of population of newborns at neurological risk. Knowledge of gestational age-specific outcomes is essential to guide and provide the best medical care. This study aimed to evaluate the impact of gestational age in mortality and neurodevelopment of very preterm infants. As a secondary objective, we aimed to determine the influence of perinatal factors on the combined outcome of neurodevelopmental impairment or death.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study of all infants born before completing 32 weeks of gestational age, admitted to the Neonatal Intensive Care Unit in a tertiary maternity hospital in Portugal from 2013 to 2021. Neurodevelopment was assessed at 24 months of corrected age, using Griffiths Mental Developmental Scales II. Moderate to severe neurodevelopment impairment was considered in the presence of at least one of the following criteria: global development quotient < 70, cerebral palsy, severe visual impairment or profound sensorineural deafness.</p><p><strong>Results: </strong>There were 311 very preterm infants assessed for eligibility, 10.9% neonatal deaths and 11.9% losses to follow-up. Neurodevelopment evaluation was performed on 274 infants, of whom 6.2% (17/274) had moderate to severe neurodevelopment impairment: 7.5% (5/67) born before 28 weeks of gestational age and 5.8% (12/207) between 28 - 31 weeks. Global development quotient < 70 was verified in 4.7% of cases. Cerebral palsy was diagnosed in 3.3%, severe visual impairment in 0.7% and profound sensorineural deafness in 0.7%. The survival rate without moderate to severe neurodevelopment impairment exceeded deaths at 25 weeks and was > 86% from 28 weeks onward. In multivariable logistic regression analysis, gestational age was identified as a protective factor for moderate to severe neurodevelopment impairment or death (aOR 0.81; CI 95% 0.68 - 0.98), whereas male sex (aOR 3.19; CI 95% 1.57 - 6.71) and resuscitation with tracheal intubation (aOR 8.17; CI 95% 3.16 - 20.96) were independent risk factors.</p><p><strong>Conclusion: </strong>This study reaffirms gestational age as a key determinant of survival and neurodevelopmental outcomes in very preterm infants, with those born before 28 weeks facing higher risks of mortality and severe neurodevelopmental impairments. Understanding local survival rates and neurodevelopmental outcomes is paramount for guiding perinatal decision-making and providing accurate evidence-based counseling to parents of preterm infants.</p>","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 5","pages":"288-296"},"PeriodicalIF":0.8,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964660","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}
Antunes de Azevedo Barroso, Inês Aires Martins, Sara Matos, Andreia Maravilha Moreira
{"title":"From Headache to Diagnosis: A Case of Pediatric Cerebral Abscess.","authors":"Antunes de Azevedo Barroso, Inês Aires Martins, Sara Matos, Andreia Maravilha Moreira","doi":"10.20344/amp.22441","DOIUrl":"https://doi.org/10.20344/amp.22441","url":null,"abstract":"","PeriodicalId":7059,"journal":{"name":"Acta medica portuguesa","volume":"38 5","pages":"334-335"},"PeriodicalIF":0.8,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143960438","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}