Browsing by Author "Santos, J"
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- Acidentes em Crianças e Jovens, Que Contexto e Que Abordagem? Experiência de Nove Meses no Serviço de Urgência num Hospital de Nível IIPublication . Batalha, S; Salva, I; Santos, J; Albuquerque, C; Cunha, F; Sousa, HIntrodução: Os acidentes constituem uma importante causa de morbimortalidade infantil e de recurso ao serviço de urgência pediátrica. A nível nacional conhecem-se apenas alguns dados epidemiológicos. Métodos: Estudo observacional transversal com análise da coorte das crianças observadas no serviço de urgência pediátrica de um hospital nível II por motivo de acidente, durante um período de nove meses, com dados obtidos através de um inquérito e submetidos a análise estatística. Resultados: Das 22502 admissões de crianças até aos 14 anos registadas, 1746 (7,8%) foram por acidentes. A maioria era do sexo masculino e tinha mais de 5 anos. Os acidentes ocorreram maioritariamente no exterior da escola (29,1%) e interior de casa (25%), predominando a queda como tipo de acidente (55,5%) e a contusão como mecanismo de lesão (54,2%). A maioria das crianças (77,3%) foi submetida a exames complementares de diagnóstico destacando-se os radiológicos. Os diagnósticos mais frequentes foram os traumatismos superficiais (47,9%) e os ferimentos (24,8%). Em 6,6% (115) dos casos os acidentes foram considerados graves. Estas admissões por acidentes associaram-se a uma despesa imediata estimada de 124 mil euros. Discussão: A frequência elevada e o local de ocorrência dos acidentes coincidiram com a literatura. Apesar do predomínio das lesões minor superficiais (47,9%) verificou-se um número significativo de crianças com necessidade de cuidados hospitalares. Não foram registados óbitos. Os autores concluem que os acidentes em crianças foram um motivo frequente de ida ao serviço de urgência pediátrica com importante consumo de recursos. A sensibilização dos cuidadores é essencial na prevenção dos acidentes.
- Benign Acute Childhood Myositis: an Alarming Condition With an Excellent Prognosis!Publication . Santos, J; Albuquerque, C; Lito, D; Cunha, F
- Um Caso Clínico de Diabetes - Discutido no "Workshop": Diabetes e OsteoporosePublication . Santos, J; Teixeira, AS; Aurélio, M; Carvalho, P; Paiva, I; Pereira da Silva, JA; Carvalheiro, MIntrodução: A diabetes mellitus tipo 2 constitui actualmente um grave problema de saúde pública, pela sua elevada incidência e prevalência. A evolução do conhecimento científico conduziu à introdução recente de novos fármacos, assim como à revisão das recomendações internacionais para o tratamento da hiperglicémia e dos objectivos terapêuticos a atingir. No dia 13 de Dezembro de 2008, realizou-se no Palace Hotel do Buçaco um Workshop Multidisciplinar subordinado ao tema “Diabetes e Osteoporose”, dirigido a internos de Endocrinologia, Medicina Interna e Reumatologia. Foram discutidos de forma interactiva dois casos clínicos, um na área da Diabetologia e outro de Reumatologia. Apresentamos os pontos fundamentais da discussão do caso clínico de Diabetes. Caso Clínico: Doente do sexo feminino, 52 anos, obesa, observada em Consulta de Diabetes por apresentar A1c de 8%, apesar da dieta e da medicação (metformina).Apresentava uma tensão arterial (TA) de 150/95 mmHg, colesterol total (CL–T) 250 mg/dL, triglicerídeos (TG) 220 mg/dL, HDL 35 mg/dL e LDL 160 mg/dL. Questão: Quais as medidas terapêuticas a adoptar? Passados 6 meses, apresentava HbA1c 7,8%, CL-T 200 mg/dL,TG 190 mg/dL, HDL 40 mg/dL, LDL 130 mg/dL e microalbuminúria 30 mg/24h. Questão: Quais as modificações terapêuticas a instituir? Um ano depois, regressa à consulta, medicada com prednisolona por patologia reumatismal, com glicémias de 300 mg/dL em jejum e A1c 10,2%. Questão: Qual a estratégia terapêutica a adoptar? Dois anos mais tarde, a doente apresenta A1c 12%, CL-T 280 mg/dL, HDL 30 mg/dL, LDL 180 mg/dL e TG 200 mg/dL,TA 160/95 mmHg. Antecedentes de Acidente Vascular Cerebral, encontrando-se novamente medicada com antidiabéticos orais. Questão: Perante este quadro, o que prescrever? Conclusões: A diabetes mellitus implica uma abordagem multifactorial, dirigida à hiperglicemia e aos restantes factores de risco associados: dislipidemia, hipertensão arterial, hipercoagulabilidade, insulinorresistência e obesidade. De acordo com a Sociedade Europeia para o Estudo da Diabetes e com Sociedade Portuguesa de Diabetologia, o objectivo é alcançar uma A1c inferior a 6,5%, no sentido de prevenir e evitar a progressão das complicações. Os novos antidiabéticos orais conduziram a um aumento das opções terapêuticas disponíveis e implicaram uma revisão das recomendações internacionais.
- Cuidados Intensivos Cardíacos em Portugal: Projetar a MudançaPublication . Monteiro, S; Timóteo, AT; Caeiro, D; Silva, M; Tralhão, A; Guerreiro, C; Silva, D; Aguiar, C; Santos, J; Monteiro, P; Gil, V; Morais, JIn recent years, the number of patients requiring acute cardiac care has increased, with progressively more complex cardiovascular conditions, often complicated by acute or chronic non-cardiovascular comorbidities, which affects the management and prognosis of these patients. Coronary care units have evolved into cardiac intensive care units, which provide highly specialized health care for the critical heart patient. In view of the limited human and technical resources in this area, we consider that there is an urgent need for an in-depth analysis of the organizational model for acute cardiac care, including the definition of the level of care, the composition and training of the team, and the creation of referral networks. It is also crucial to establish protocols and to adopt safe clinical practices to improve levels of quality and safety in the treatment of patients. Considering that acute cardiac care involves conditions with very different severity and prognosis, it is essential to define the level of care to be provided for each type of acute cardiovascular condition in terms of the team, available techniques and infrastructure. This will lead to improvements in the quality of care and patient prognosis, and will also enable more efficient allocation of resources.
- Developing and Validating High-Value Patient Digital Follow-Up Services: a Pilot Study in Cardiac SurgeryPublication . Londral, A; Azevedo, S; Dias, P; Ramos, C; Santos, J; Martins, F; Silva, R; Semedo, H; Vital, C; Gualdino, A; Falcão, J; Lapão, LV; Coelho, P; Fragata, JBackground: The existing digital healthcare solutions demand a service development approach that assesses needs, experience, and outcomes, to develop high-value digital healthcare services. The objective of this study was to develop a digital transformation of the patients' follow-up service after cardiac surgery, based on a remote patient monitoring service that would respond to the real context challenges. Methods: The study followed the Design Science Research methodology framework and incorporated concepts from the Lean startup method to start designing a minimal viable product (MVP) from the available resources. The service was implemented in a pilot study with 29 patients in 4 iterative develop-test-learn cycles, with the engagement of developers, researchers, clinical teams, and patients. Results: Patients reported outcomes daily for 30 days after surgery through Internet-of-Things (IoT) devices and a mobile app. The service's evaluation considered experience, feasibility, and effectiveness. It generated high satisfaction and high adherence among users, fewer readmissions, with an average of 7 ± 4.5 clinical actions per patient, primarily due to abnormal systolic blood pressure or wound-related issues. Conclusions: We propose a 6-step methodology to design and validate a high-value digital health care service based on collaborative learning, real-time development, iterative testing, and value assessment.
- Hemophagocytic Lymphohistiocytosis Secondary to Falciparum Malaria in a 5 Year-Old BoyPublication . Santos, J; Farela Neves, J; Venâncio, P; Gouveia, C; Varandas, L
- Hyper-IgD and Periodic Fever Syndrome: a New MVK Mutation (p.R277G) Associated with a Severe PhenotypePublication . Santos, J; Aróstegui, J; Brito, MJ; Neves, C; Conde, MHyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM#260920) is a rare recessively-inherited autoinflammatory condition caused bymutations in the MVK gene, which encodes for mevalonate kinase, an essential enzyme in the isoprenoid pathway. HIDS is clinically characterized by recurrent episodes of fever and inflammation. Herewe report on the case of a 2 year-old Portuguese boy with recurrent episodes of fever, malaise, massive cervical lymphadenopathy and hepatosplenomegaly since the age of 12 months. Rash, arthralgia, abdominal pain and diarrhea were also seen occasionally. During attacks a vigorous acute-phase response was detected, including elevated erythrocyte sedimentation rate, C-reactive protein, serum amyloid A and leukocytosis. Clinical and laboratory improvement was seen between attacks. Despite normal serum IgD level, HIDS was clinically suspected. Mutational MVK analysis revealed the homozygous genotype with the novel p.Arg277Gly (p.R277G) mutation, while the healthy non consanguineous parents were heterozygous. Short nonsteroidal anti-inflammatory drugs and corticosteroid courses were given during attacks with poor benefits, where as anakinra showed positive responses only at high doses. The p.R277Gmutation here described is a novel missense MVK mutation, and it has been detected in this casewith a severe HIDS phenotype. Further studies are needed to evaluate a co-relation genotype, enzyme activity and phenotype, and to define the best therapeutic strategies.
- Identification of de Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor DiagnosesPublication . Cavaco, B; Santos, R; Félix, A; Carvalho, D; Lopes, JM; Domingues, R; Sirgado, M; Rei, N; Fonseca, F; Santos, J; Sobrinho, L; Leite, VThe diagnosis of parathyroid carcinomas is often difficult. HRPT2 mutations have been identified in familial [hyperparathyroidism-jaw tumor (HPT-JT) syndrome] and sporadic parathyroid carcinomas, supporting that HRPT2 mutations may confer a malignant potential to parathyroid tumors. In this study, we report the clinical, histopathological, and genetic investigation of two unrelated cases, whom had apparently sporadic malignant parathyroid tumors, initially diagnosed as adenomas. In one case, the differential diagnosis was complicated by cervical seeding of parathyroid tumor cells. Genetic studies identified de novo HRPT2 germline mutations in cases 1 (c.518_521delTGTC [p.Ser174LysfsX27]) and 2 (c.226 C > T [p.Arg76X]), unveiling the hereditary HPT-JT syndrome in both patients. Furthermore, the identification of somatic mutations in the patients‟ parathyroid tumors provided evidence for complete inactivation of the HRPT2 gene, which was consistent with the tumor malignant features. The sensitivity of parafibromin immunostaining to detect HRPT2 mutations was limited. The present data suggests that patients with apparently sporadic parathyroid carcinomas, or parathyroid tumors with atypical histological features, should undergo molecular genetic testing, as it may detect germline HRPT2 mutations. Establishing the diagnosis of hereditary HPT-JT syndrome is relevant for clinical counseling and management of the carriers and their relatives.
- Portuguese Consensus Document Statement in Diagnostic and Management of Atypical Hemolytic Uremic SyndromePublication . Azevedo, A; Faria, B; Teixeira, C; Carvalho, F; Neto, G; Santos, J; Santos, MC; Oliveira, N; Fidalgo, T; Calado, JAmong thrombotic microangiopathies (TMA), the hemolytic uremic syndrome associated with dysregulation of the alternative complement pathway (aHUS) is one of the most challenging diseases a nephrologist can face. By the end of the XXth century, the complement’s role was unraveled with the discovery that mutations in the factor H coding gene were responsible for aHUS. But it was the acknowledgment that pharmacological C5-9 blockage provided a cure for aHUS that fostered the interest of the nephrology community in the genetics, pathophysiology and therapeutics of, not only of aHUS, but TMA in general. The molecular genetics of aHUS is technically demanding and, as such, in Portugal (alike many other European countries) a single laboratory emerged as a national reference center. The fact that all samples are evaluated in a single center provides a unique opportunity for data collection and a forum for discussion for all those interested in the field: immunologists, molecular geneticists, pathologists and nephrologists. The current consensus document emerged from such a discussion forum and was sponsored by the Portuguese Society of Nephrology. The goal is more to portray the Portuguese picture regarding the diagnostic approach and therapeutic options than to extensively review the state of the art of the subject. The accompanying documents that are published as supplementary data are in line with that goal. They range from the informed consent and clinical form to be sent together with the biological samples for genetic testing, to the appendix regarding the actual sampling and storing conditions. The document is also intended to set an example for future documents and independent discussion forums on other kidney diseases for which emerging diagnostic and/or therapeutic strategies are reaching clinical practice.
- Predicting Post-Discharge Complications in Cardiothoracic Surgery: a Clinical Decision Support System to Optimize Remote Patient Monitoring ResourcesPublication . Santos, R; Ribeiro, B; Sousa, I; Santos, J; Guede-Fernández, F; Dias, P; Carreiro, A; Gamboa, H; Coelho, P; Fragata, J; Londral, ACardiac surgery patients are highly prone to severe complications post-discharge. Close follow-up through remote patient monitoring can help detect adverse outcomes earlier or prevent them, closing the gap between hospital and home care. However, equipment is limited due to economic and human resource constraints. This issue raises the need for efficient risk estimation to provide clinicians with insights into the potential benefit of remote monitoring for each patient. Standard models, such as the EuroSCORE, predict the mortality risk before the surgery. While these are used and validated in real settings, the models lack information collected during or following the surgery, determinant to predict adverse outcomes occurring further in the future. This paper proposes a Clinical Decision Support System based on Machine Learning to estimate the risk of severe complications within 90 days following cardiothoracic surgery discharge, an innovative objective underexplored in the literature. Health records from a cardiothoracic surgery department regarding 5 045 patients (60.8% male) collected throughout ten years were used to train predictive models. Clinicians' insights contributed to improving data preparation and extending traditional pipeline optimization techniques, addressing medical Artificial Intelligence requirements. Two separate test sets were used to evaluate the generalizability, one derived from a patient-grouped 70/30 split and another including all surgeries from the last available year. The achieved Area Under the Receiver Operating Characteristic curve on these test sets was 69.5% and 65.3%, respectively. Also, additional testing was implemented to simulate a real-world use case considering the weekly distribution of remote patient monitoring resources post-discharge. Compared to the random resource allocation, the selection of patients with respect to the outputs of the proposed model was proven beneficial, as it led to a higher number of high-risk patients receiving remote monitoring equipment.