Browsing by Author "Silva, E"
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- Alterações Estruturais dos Vasos Pulmonares e Artérias Coronárias na Síndrome do Coração Esquerdo HipoplásicoPublication . Macedo, A; Pinto, E; Ramos, S; Brito, MJ; Costa, MM; Serrano, I; Torrezão, I; Lima, M; Silva, E; Roriz, ML; Silva, S; Sampayo, FCom o objectivo de correlacionar variantes anatómicas com alterações pulmonares e coronárias na síndrome do coração esquerdo hipoplásico (SCEH), fez-se o estudo morfológico e histológico de 15 peças de necrópsia coração-pulmão de recém-nascidos falecidos com aquela patologia. Encontrou-se a forma clássica de SCEH em II peças das quais 3 tinham atrésia da válvula mitral. Nas restantes 4 a aorta saía do ventrículo direito, com ventrículo esquerdo virtual e atrésia da válvula mitral. A histologia pulmonar mostrou aumento da percentagem de espessura das arteríolas e veias pulmonares e extensão intra-acinar da camada muscular das arteríolas em todas as peças. Mas em 8 peças com foramen ovale encerrado ou com diâmetro médio de 5 mm as alterações pulmonares foram mais marcadas do que nas restantes com diâmetro médio do foramen ovale de 9mm. A distribuição coronária foi normal, mas 4 das 8 peças com válvula mitral permeável apresentavam alterações das artérias coronárias não encontradas nas 7 peças com atrésia da válvula mitral. Conclui-se que na SCEH, a existência de foramen ovale encerrado ou restritivo, e de válvula mitral permeável, podem condicionar alterações pulmonares e coronárias, aumentando o risco cirúrgico pelas complicações pós operatórias que possam induzir.
- Asthma Management With Breath-Triggered Inhalers: Innovation Through DesignPublication . Morais-Almeida, M; Pité, H; Cardoso, J; Costa, R; Robalo Cordeiro, C; Silva, E; Todo-Bom, A; Vicente, C; Marques, JABackground: Asthma affects the lives of hundred million people around the World. Despite notable progresses in disease management, asthma control remains largely insufficient worldwide, influencing patients' wellbeing and quality of life. Poor patient handling of inhaling devices has been identified as a major persistent problem that significantly reduces inhaled drugs' efficacy and is associated with poor adherence to treatment, impairing clinical results such as asthma control and increasing disease-related costs. We herein review key research and development (R&D) innovation in inhaler devices, highlighting major real-world critical errors in the handling and inhalation technique with current devices and considering potential solutions. Furthermore, we discuss current evidence regarding breath-triggered inhalers (BTI). Main body: The two most common significant problems with inhalers are coordinating actuation and inhalation with pressurized metered-dose inhalers (pMDIs), and the need to inhale forcibly with a dry powder inhaler. BTI R&D plans were designed to overcome these problems. Its newest device k-haler® has several other important features, generating a less forceful aerosol plume than previous pMDIs, with efficient drug delivery and lung deposition, even in patients with low inspiratory flow. The local and systemic bioavailability of fluticasone propionate and formoterol (FP/FORM) administered via k-haler® has been shown to be therapeutically equivalent when administered via the previous FP/FORM pMDI. This device requires very few steps and has been considered easy to use (even at first attempt) and preferred by the patients in a randomized crossover study. In our country, FP/FORM k-haler is available without additional costs compared to FP/FORM pMDI. All devices continue to require education and regular checking of the correct inhalation technique. Conclusion: BTI R&D can bring advantage over current available inhalers, avoiding the two most common identified critical errors in inhalation technique. K-haler® BTI is currently available, without an increased cost, and approved for adolescents and adults with asthma in whom treatment with inhaled combined therapy with long-acting beta2-agonists and corticosteroids is indicated. Its attractive and practical design to facilitate its use has been awarded. K-haler® represents added value through innovation to fulfill actual asthma patient needs, thus with potential relevant impact in asthma management and effective control.
- Colestase Neonatal - Protocolo de Abordagem DiagnósticaPublication . Silva, E; Pó, I; Gonçalves, I
- Ecografia Per-Operatória em Cirurgia das Vias Biliares. Estudo Comparativo Ecografia/Colangiografia Per-Operatória na Detecção de Cálculos na Via Biliar PrincipalPublication . Garcia, JP; Sousa, JT; Silva, E; Soares, E; Pedroso, C; Cid, MOOs autores apresentam a sua experiência de 3 anos, com a ecografia per-operatória em 200 doentes sujeitos a colecistectomia por litíase biliar. A ecografia per-operatória e a colangiografia per-operatória foram praticadas em todos estes doentes e comparadas com os achados operatórios. A precisão diagnóstica da ecografia foi 98% e a da colangiografia 96%, no total de doentes desta série. O valor da previsão duma ecografia positiva foi 92.5% enquanto que com uma colangiografia positiva foi inferior, 8 1.5%. Nos 32 doentes em que se praticou a exploração da via biliar principal a utilização destes dois métodos conjuntos levou a uma exploração positiva em 75% dos casos. A morbilidade total nestas séries foi 4.8% contra 12.8% (no grupo com exploração do hepato-colédoco) e cálculos retidos a seguir à exploração da via biliar, foram encontrados numa doente e em situação intra-hepática. A mortalidade total de toda a série de doentes foi 0%. A ecografia per-operatória das vias biliares como procedimento de estudo é um método valioso, possível substituto da colangiografia per-operatória, embora na realidade ambos os métodos possam ter um papel complementar.
- Fatores Determinantes de Morbilidade nos Doentes com Lúpus Eritematoso SistémicoPublication . Jacinto, M; Silva, E; Riso, N; Moraes-Fontes, MFIntrodução: O lúpus eritematoso sistémico pode apresentar uma gravidade variável. Contudo, não existem biomarcadores que preveem o curso da doença. O dano é medido pelo índice Systemic Lupus International Collaborating Clinics/Systemic Damage Index que define a gravidade e prevê o seu prognóstico. Objetivo: Avaliação dos fatores que determinam dano nos doentes com lúpus eritematoso sistémico. Material e Métodos: Estudo retrospetivo, monocêntrico, em doentes com lúpus eritematoso sistémico (≥ 4 critérios do American College of Rheumatology – 100% dos doentes, n = 76), do sexo feminino, seguidos por um período ≥ 5 anos. Início da doença, etnia, duração, número de critérios American College of Rheumatology no final do seguimento, fenótipo renal, neuropsiquiátrico (e articular, co-morbilidades e Systemic Lupus Erythematosus Disease Activity Index -2K foram correlacionados com a presença e grau de dano medido pelo índice Systemic Lupus International Collaborating Clinics/Systemic Damage Index. A acumulação de critérios American College of Rheumatology foi objetivada num sub-grupo de doentes seguidos desde o início. A análise estatística utilizou o qui-quadrado, Wilcoxon Mann-Whitney e a correlação de Spearman (p < 0,05). Resultados: O Systemic Lupus International Collaborating Clinics Index era superior a 0 em 56,5% dos doentes. Estes doentes tinham um maior tempo de doença, um maior número de critérios American College of Rheumatology e um fenótipo neuropsiquiátrico, quando comparados com doentes sem dano (p < 0,05). Verificou-se uma correlação positiva entre o valor numérico de critérios American College of Rheumatology acumulados no final do seguimento e a atividade da doença nos últimos cinco anos (Spearman rho 0,02 e p < 0,05). Não se verificaram diferenças em relação às outras variáveis. Discussão e Conclusão: A duração da doença e o número de critérios do American College of Rheumatology acumulados conseguem prever a presença de dano. A doença neuropsiquiátrica teve impacto na morbilidade dos doentes com lúpus eritematoso sistémico, identificando um subgrupo em risco.
- Measuring Adherence to Inhaled Control Medication in Patients with Asthma: Comparison Among an Asthma App, Patient Self‐Report and Physician AssessmentPublication . Cachim, A; Pereira, AM; Almeida, R; Amaral, R; Alves‐Correia, M; Vieira‐Marques, P; Chaves‐Loureiro, C; Ribeiro, C; Cardia, F; Gomes, J; Vidal, C; Silva, E; Rocha, S; Rocha, D; Marques, ML; Páscoa, R; Morais, D; Cruz, AM; Santalha, M; Simões, JA; da Silva, S; Silva, D; Gerardo, R; Todo Bom, F; Morete, A; Vieira, I; Vieira, P; Monteiro, R; Raimundo, MR; Monteiro, L; Neves, Â; Santos, C; Penas, AM; Regadas, R; Varanda Marques, J; Rosendo, I; Abreu Aguiar, M; Fernandes, S; Seiça Cardoso, C; Pimenta, F; Meireles, P; Gonçalves, M; Almeida Fonseca, J; Jácome, CBackground: Previous studies have demonstrated the feasibility of using an asthma app to support medication management and adherence but failed to compare with other measures currently used in clinical practice. However, in a clinical setting, any additional adherence measurement must be evaluated in the context of both the patient and physician perspectives so that it can also help improve the process of shared decision making. Thus, we aimed to compare different measures of adherence to asthma control inhalers in clinical practice, namely through an app, patient self-report and physician assessment. Methods: This study is a secondary analysis of three prospective multicentre observational studies with patients (≥13 years old) with persistent asthma recruited from 61 primary and secondary care centres in Portugal. Patients were invited to use the InspirerMundi app and register their inhaled medication. Adherence was measured by the app as the number of doses taken divided by the number of doses scheduled each day and two time points were considered for analysis: 1-week and 1-month. At baseline, patients and physicians independently assessed adherence to asthma control inhalers during the previous week using a Visual Analogue Scale (VAS 0-100). Results: A total of 193 patients (72% female; median [P25-P75] age 28 [19-41] years old) were included in the analysis. Adherence measured by the app was lower (1 week: 31 [0-71]%; 1 month: 18 [0-48]%) than patient self-report (80 [60-95]) and physician assessment (82 [51-94]) (p < 0.001). A negligible non-significant correlation was found between the app and subjective measurements (ρ 0.118-0.156, p > 0.05). There was a moderate correlation between patient self-report and physician assessment (ρ = 0.596, p < 0.001). Conclusions: Adherence measured by the app was lower than that reported by the patient or the physician. This was expected as objective measurements are commonly lower than subjective evaluations, which tend to overestimate adherence. Nevertheless, the low adherence measured by the app may also be influenced by the use of the app itself and this needs to be considered in future studies.
- New Ocular Findings in a Patient with a Novel Pathogenic Variant in the FBXO11 GenePublication . Silva, RG; Dupont, J; Silva, E; Sousa, ABIntellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) is a recently described autosomal dominant entity caused by pathogenic variants, mostly de novo, in the FBXO11 gene. It presents in the first years of life with highly variable clinical manifestations. The main features of IDDFBA include borderline-to-severe intellectual disability, behavioral problems, hypotonia, facial dysmorphisms, minor skeletal abnormalities, and recurrent infections. Although eye problems, such as refractive errors, eye misalignment and minor visual changes, have been described in about 48% of patients, a major ocular defect, namely, bilateral optic nerve hypoplasia, has been reported in the literature only once. We report an 8-year-old boy with a novel de novo pathogenic variant in FBXO11 gene (NM_001190274.1: c.1166dup, p.Cys390Metfs∗3) and a complex ophthalmological phenotype, consisting of right microphthalmia, very shallow anterior chamber, and persistent pupillary membrane, right dense nuclear cataract, bilateral optic nerve hypoplasia, and bilateral horizontal manifest nystagmus.
- POEMS Syndrome: a Rare Cause of Adrenal Insufficiency in a Young MalePublication . Prokop, J; Estorninho, J; Marote, S; Sabino, T; Botelho de Sousa, A; Silva, E; Agapito, ASummary: POEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein and Skin changes) is a rare multisystemic disease. Clinical presentation is variable, the only mandatory criteria being polyneuropathy and monoclonal gammapathy in association with one major and one minor criterion. Primary adrenal insufficiency is rarely reported. We describe a case of a 33-year-old patient, in whom the presenting symptoms were mandibular mass, chronic sensory-motor peripheral polyneuropathy and adrenal insufficiency. The laboratory evaluation revealed thrombocytosis, severe hyperkalemia with normal renal function, normal protein electrophoresis and negative serum immunofixation for monoclonal protein. Endocrinologic laboratory work-up confirmed Addison's disease and revealed subclinical primary hypothyroidism. Thoracic abdominal CT showed hepatosplenomegaly, multiple sclerotic lesions in thoracic vertebra and ribs. The histopathologic examination of the mandibular mass was nondiagnostic. Bone marrow biopsy revealed plasma cell dyscrasia and confirmed POEMS syndrome. Axillary lymphadenopathy biopsy: Castleman's disease. Gluco-mineralocorticoid substitution and levothyroxine therapy were started with clinical improvement. Autologous hematopoietic cell transplantation (HCT) was planned, cyclophosphamide induction was started. Meanwhile the patient suffered two ischemic strokes which resulted in aphasia and hemiparesis. Cerebral angiography revealed vascular lesions compatible with vasculitis and stenosis of two cerebral arteries. The patient deceased 14 months after the diagnosis. The young age at presentation, multiplicity of manifestations and difficulties in investigation along with the absence of serum monoclonal protein made the diagnosis challenging. We report this case to highlight the need to consider POEMS syndrome in differential diagnosis of peripheral neuropathy in association with endocrine abnormalities even in young patients. Learning points: POEMS syndrome is considered a 'low tumor burden disease' and the monoclonal protein in 15% of cases is not found by immunofixation. Neuropathy is the dominant characteristic of POEMS syndrome and it is peripheral, ascending, symmetric and affecting both sensation and motor function. Endocrinopathies are a frequent feature of POEMS syndrome, but the cause is unknown. The most common endocrinopathies are hypogonadism, primary hypothyroidism and abnormalities in glucose metabolism. There is no standard therapy; however, patients with disseminated bone marrow involvement are treated with chemotherapy with or without HCT.
- Profiling Persistent Asthma Phenotypes in Adolescents: A Longitudinal Diagnostic Evaluation from the INSPIRERS StudiesPublication . Amaral, R; Jácome, C; Almeida, R; Pereira, AM; Alves-Correia, M; Mendes, S; Rodrigues, JC; Carvalho, J; Araújo, L; Costa, A; Silva, A; Teixeira, MF; Ferreira-Magalhães, M; Alves, RR; Moreira, AS; Fernandes, RM; Ferreira, R; Leiria-Pinto, P; Neuparth, N; Bordalo, D; Todo Bom, A; Cálix, MJ; Ferreira, T; Gomes, J; Vidal, C; Mendes, A; Vasconcelos, MJ; Silva, PM; Ferraz, J; Morête, A; Pinto, CS; Santos, N; Loureiro, CC; Arrobas, A; Marques, ML; Lozoya, C; Lopes, C; Cardia, F; Loureiro, CC; Câmara, R; Vieira, I; Silva, S; Silva, E; Rodrigues, N; Fonseca, JAWe aimed to identify persistent asthma phenotypes among adolescents and to evaluate longitudinally asthma-related outcomes across phenotypes. Adolescents (13-17 years) from the prospective, observational, and multicenter INSPIRERS studies, conducted in Portugal and Spain, were included (n = 162). Latent class analysis was applied to demographic, environmental, and clinical variables, collected at a baseline medical visit. Longitudinal differences in clinical variables were assessed at a 4-month follow-up telephone contact (n = 128). Three classes/phenotypes of persistent asthma were identified. Adolescents in class 1 (n = 87) were highly symptomatic at baseline and presented the highest number of unscheduled healthcare visits per month and exacerbations per month, both at baseline and follow-up. Class 2 (n = 32) was characterized by female predominance, more frequent obesity, and uncontrolled upper/lower airways symptoms at baseline. At follow-up, there was a significant increase in the proportion of controlled lower airway symptoms (p < 0.001). Class 3 (n = 43) included mostly males with controlled lower airways symptoms; at follow-up, while keeping symptom control, there was a significant increase in exacerbations/month (p = 0.015). We have identified distinct phenotypes of persistent asthma in adolescents with different patterns in longitudinal asthma-related outcomes, supporting the importance of profiling asthma phenotypes in predicting disease outcomes that might inform targeted interventions and reduce future risk.