Browsing by Author "Marques, Marta"
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- Congenital heart disease in children with Down Syndrome: what has changed in the last three decades?Publication . Dias, Filipa Mestre; Cordeiro, Susana; Menezes, Isabel; Nogueira, Graca; Teixeira, Ana; Marques, Marta; Abecasis, Miguel; Anjos, RuiINTRODUCTION: The prevalence of Down syndrome has increased in the last 30 years; 55% of these children have congenital heart disease.MATERIAL AND METHODS: A retrospective longitudinal cohort study; clinical data from 1982 to 2013 databases with the diagnosis of Down syndrome or trisomy 21 in a reference hospital in pediatric cardiology and cardiac surgery.OBJECTIVE: to assess the progress in the last three decades of cardiological care given to children with Down syndrome and congenital heart disease.RESULTS: We studied 102 patients with Down syndrome and congenital heart disease subjected to invasive therapy: corrective or palliative cardiac surgery and therapeutic catheterization. The referral age was progressively earlier in patients referred in the first year of life. The most frequent diagnosis was complete atrioventricular sptal defect (41%). There was a trend towards increasingly early corrective surgery in patients under 12 months (p < 0.001). Since 2000, the large majority of patients were operated before reaching six months of age. The main cardiac complications were rhythm dysfunction and low output. More frequent noncardiac complications were pulmonary and infectious. The 30-day mortality rate was 3/102 cases (2.9%). Of patients in follow-up, 89% are in NYHA class I.DISCUSSION AND CONCLUSION: The early surgical correction seen over the past 15 years follows the approach suggested in the literature. The observed 30-day mortality rate is overlapping international results. Patients with Down syndrome subjected to corrective surgery of congenital heart disease have an excellent long-term functional capacity.Introducao: A prevalencia da sindrome de Down tem aumentado nos ultimos 30 anos; 55% destas criancas apresentam cardiopatiacongenita. Material e Metodos: Estudo retrospetivo longitudinal de coorte; dados clinicos obtidos em bases de dados de 1982 a 2013 com odiagnostico de sindrome de Down ou trissomia 21 num hospital de referencia em cardiologia pediatrica e cirurgia cardiaca. Objetivo: Avaliar a evolucao, nas ultimas tres decadas, dos cuidados cardiologicos prestados as criancas com sindrome de Down ecardiopatia congenita.Resultados: Estudamos 102 doentes com sindrome de Down e cardiopatia congenita submetidos a terapeutica invasiva: cirurgiacardiaca corretiva, paliativa e cateterismo terapeutico. Em doentes referenciados no primeiro ano de vida, a referenciacao foi cadavez mais precoce. O diagnostico mais frequente foi o defeito completo do septo auriculo-ventricular (41%). Verificou-se uma tendenciapara cirurgia corretiva cada vez mais precoce em doentes abaixo dos 12 meses (p < 0,001). A partir de 2000, a grande maioria dosdoentes foi operada antes dos seis meses de idade. As principais complicacoes cardiacas foram alteracoes de ritmo e baixo debito eas principais nao cardiacas foram pulmonares e infeciosas. A taxa de mortalidade a 30 dias foi de 3/102 casos (2,9%). Dos doentesem follow-up, 89% estao em classe funcional I da NYHA. Discussao e Conclusao: A correcao cirurgica mais precoce verificada nos ultimos 15 anos vai ao encontro do proposto na literatura. Ataxa de mortalidade a 30 dias verificada e sobreponivel aos resultados internacionais. Os doentes com sindrome de Down submetidosa cirurgia corretiva de cardiopatia congenita apresentam uma excelente capacidade funcional a longo prazo.
- Epidemiological and clinical aspects of Cutaneous and Mucosal Leishmaniases in Portugal: retrospective analysis of cases diagnosed in public hospitals and reported in the literature between 2010 and 2020Publication . Rocha, Rafael; Conceição, Cláudia; Gonçalves, Luzia; Carvalho, Ana Cláudia; Maia, André; Martins, André; Carujo, António; Maio, António; Forra, Catarina; Melita, Catarina; Couto, Daniela; Fernandes, Diana; Pereira, Dulce; Leal, Ema; Sarmento, Helena; Sousa, Inês; Gonçalves, Jean-Pierre; Marinho, Joana; Vasconcelos, Joana; Cunha, João; Rodrigues, João; Silva, José Miguel; Caley, Lídia; Malheiro, Luís; Santos, Luís; Garcia, Margarida; Cunha, Maria; Lima, Maria; Andrade, Maria Margarida; Marques, Marta; Alpalhão, Miguel; Silva, Mónica; Ferraz, Rita; Soares, Rui; Fernandes, Salomão; Llobet, Samuel; Cruz, Sofia; Guimarães, Teresa; Branco, Tiago; Nunes, Tomás Robalo; Almeida, Vasco; Maia, CarlaLeishmania infantum, a zoonotic vector-born parasite, is endemic in the Mediterranean region, presenting mostly as visceral (VL), but also as cutaneous (CL) and mucosal leishmaniasis (ML). This study aimed to describe the epidemiological and clinical aspects of the CL and ML cases diagnosed in mainland Portugal between 2010 and 2020. Collaboration was requested from every hospital of the Portuguese National Health System. Cases were screened through a search of diagnostic discharge codes or positive laboratory results for Leishmania infection. Simultaneously, a comprehensive literature search was performed. Descriptive statistics and hypothesis testing were performed using IBM (R) SPSS (R) Statistics. A total of 43 CL and 7 ML cases were identified, with a predominance of autochthonous cases (86%). In CL, immunosuppressed individuals constituted a significant proportion of patients (48%), and in this group, disseminated CL (22%) and simultaneous VL (54%) were common. In autochthonous cases, lesions, mostly papules/nodules (62%), were frequently observed on the head (48%). The approach to treatment was very heterogeneous. ML cases were all autochthonous, were diagnosed primarily in older immunosuppressed individuals, and were generally treated with liposomal amphotericin B. The findings suggest a need for enhanced surveillance and reporting, clinical awareness, and diagnostic capacity of these forms of leishmaniasis to mitigate underdiagnosis and improve patient outcomes. A holistic One Health approach is advocated to address the multifaceted challenges posed by leishmaniases in Portugal and beyond.