Browsing by Author "Afonso, I"
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- Chondroepithelial Choristoma: A Rare Cause of Congenital Esophageal StenosisPublication . Marques dos Santos, F; Afonso, I; Soares, E; Carneiro, R
- Is Saccharomyces Boulardii Really Safe?Publication . Alves, C; Afonso, I; Leiria-Pinto, P
- Missense Mutation of TTC7A Mimicking Tricho-Hepato-Enteric (SD/THE) Syndrome in a Patient with Very-Early Onset Inflammatory Bowel DiseasePublication . Farela Neves, J; Afonso, I; Borrego, L; Martins, C; Cordeiro, AI; Neves, C; Lacoste, C; Badens, C; Fabre, ATricho-hepato-enteric syndrome (SD/THE) and Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal recessive disorders that present immunological and gastrointestinal features. There are two different phenotypes of patients with TTC7A mutations: the severe form, caused by null mutations and leading to the classical MIA-CID; and the mild form, caused by missense mutations and leading to predominant features of VEO-IBD, less severe immunological involvement and hair abnormalities. We expand the knowledge about TTC7A deficiency, describing a patient with the mild phenotype of TTC7A deficiency but presenting overlapping features of SD/THE and MIA-CID: intestinal atresia and inflammatory bowel disease evocative of MIA-CID, but also dental abnormalities, huge forehead, liver abnormalities, autoimmune thyroiditis and hypogammaglobulinemia, evocative of SD/THE.
- Patient-Physician Discordance in Assessment of Adherence to Inhaled Controller Medication: a Cross-Sectional Analysis of Two CohortsPublication . Jácome, C; Pereira, AM; Almeida, R; Ferreira-Magalhaes, M; Couto, M; Araujo, L; Pereira, M; Alves Correia, M; Chaves Loureiro, C; Catarata, MJ; Maia Santos, L; Pereira, J; Ramos, B; Lopes, C; Mendes, A; Cidrais Rodrigues, JC; Oliveira, G; Aguiar, AP; Afonso, I; Carvalho, J; Arrobas, A; Coutinho Costa, J; Dias, J; Todo Bom, A; Azevedo, J; Ribeiro, C; Alves, M; Leiria Pinto, P; Neuparth, N; Palhinha, A; Gaspar Marques, J; Pinto, N; Martins, P; Todo Bom, F; Alvarenga Santos, M; Gomes Costa, A; Silva Neto, A; Santalha, M; Lozoya, C; Santos, N; Silva, D; Vasconcelos, MJ; Taborda-Barata, L; Carvalhal, C; Teixeira, MF; Rodrigues Alves, R; Moreira, AS; Sofia Pinto, C; Morais Silva, P; Alves, C; Câmara, R; Coelho, D; Bordalo, D; Fernandes, R; Ferreira, R; Menezes, F; Gomes, R; Calix, MJ; Marques, A; Cardoso, J; Emiliano, M; Gerardo, R; Nunes, C; Câmara, R; Ferreira, JA; Carvalho, A; Freitas, P; Correia, R; Fonseca, JOBJECTIVE: We aimed to compare patient's and physician's ratings of inhaled medication adherence and to identify predictors of patient-physician discordance. DESIGN: Baseline data from two prospective multicentre observational studies. SETTING: 29 allergy, pulmonology and paediatric secondary care outpatient clinics in Portugal. PARTICIPANTS: 395 patients (≥13 years old) with persistent asthma. MEASURES: Data on demographics, patient-physician relationship, upper airway control, asthma control, asthma treatment, forced expiratory volume in one second (FEV1) and healthcare use were collected. Patients and physicians independently assessed adherence to inhaled controller medication during the previous week using a 100 mm Visual Analogue Scale (VAS). Discordance was defined as classification in distinct VAS categories (low 0-50; medium 51-80; high 81-100) or as an absolute difference in VAS scores ≥10 mm. Correlation between patients' and physicians' VAS scores/categories was explored. A multinomial logistic regression identified the predictors of physician overestimation and underestimation. RESULTS: High inhaler adherence was reported both by patients (median (percentile 25 to percentile 75) 85 (65-95) mm; 53% VAS>80) and by physicians (84 (68-95) mm; 53% VAS>80). Correlation between patient and physician VAS scores was moderate (rs=0.580; p<0.001). Discordance occurred in 56% of cases: in 28% physicians overestimated adherence and in 27% underestimated. Low adherence as assessed by the physician (OR=27.35 (9.85 to 75.95)), FEV1 ≥80% (OR=2.59 (1.08 to 6.20)) and a first appointment (OR=5.63 (1.24 to 25.56)) were predictors of underestimation. An uncontrolled asthma (OR=2.33 (1.25 to 4.34)), uncontrolled upper airway disease (OR=2.86 (1.35 to 6.04)) and prescription of short-acting beta-agonists alone (OR=3.05 (1.15 to 8.08)) were associated with overestimation. Medium adherence as assessed by the physician was significantly associated with higher risk of discordance, both for overestimation and underestimation of adherence (OR=14.50 (6.04 to 34.81); OR=2.21 (1.07 to 4.58)), while having a written action plan decreased the likelihood of discordance (OR=0.25 (0.12 to 0.52); OR=0.41 (0.22 to 0.78)) (R2=44%). CONCLUSION: Although both patients and physicians report high inhaler adherence, discordance occurred in half of cases. Implementation of objective adherence measures and effective communication are needed to improve patient-physician agreement.
- Perivascular Epithelioid Cell Tumor: A Case Report of a Rare EntityPublication . Cardosa, MF; Ferreira de Lima, S; Knoblich, M; Afonso, I; Mendes, CPerivascular epithelioid cell tumor is a rare mesenchymal tumor with myomelanocytic differentiation. It mainly occurs in middle-aged females and can be found at any location. The differential diagnosis is broad but the immunohistochemical biomarkers establish the diagnosis. A 4-year-old girl was referred to a pediatric gastroenterology clinic due to recurrent umbilical pain and the workup revealed biliary lithiasis. She remained in follow-up, asymptomatic, no physical findings, and stable ultrasound. Six years later, a supra-umbilical mass was detected by ultrasound, and the magnetic resonance imaging revealed a highly vascularized intraperitoneal tumor with well-defined limits. Surgical mass resection was performed, and the histology revealed morphological and immunohistochemical aspects of a perivascular epithelioid cell tumor of the abdominal wall. Given the size of the lesion (> 5 cm) and admitting uncertain malignant potential, she was submitted to margin enlargement. Four years later, she remains asymptomatic without clinical or imagiological evidence of relapse.
- Pneumonectomy in a Child with Necrotic Lung after Ingestion of a Button BatteryPublication . Stilwell, R; Silva, C; Alves, R; Afonso, I; Calvinho, P; Malta, AC
- Ressurgimento da Febre Reumática. Novas Causas ou Velhas Atitudes?Publication . Brito, MJ; Afonso, I; Flores, H; Pinto, S; Macedo, AJ; Trindade, L; Freitas, O; Almeida, T; Cruz, A; Costa, GGDado que nos últimos anos se tem verificado um aumento da incidência da Febre Reumática (F.R.), assumiu-se como objectivo deste trabalho tentar avaliar as causas dos casos ocorridos recentemente entre nós. Analisaram-se os processos de três crianças nascidas e residentes em Portugal, com o primeiro surto conhecido de F.R., observadas entre Junho de 1993 e Março de 1994. Um caso apresentou-se com poliartrite, um com poliartrite e cardite e outro com coreia e cardite. Apenas num deles a hipótese de F.R. foi colocada de início e no global foi possível identificar falhas na profilaxia e no diagnóstico ecocardiográfico da valvulopatia. Concluiu-se que entre nós, e face a estes exemplos, o recrudescimento e a morbilidade da Febre Reumática, se deve provavelmente mais ao esquecimento de velhas atitudes do que a novas causas. Os atrasos no diagnóstico e a profilaxia secundária podem influenciar os resultados a longo prazo.