Browsing by Author "Oliveira, G"
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- Abordagem Terapêutica na Perturbação de Hiperatividade com Défice de Atenção em Idade PediátricaPublication . Barrias, P; Nunes Filipe, C; Santos, C; Oliveira, G; Santos, I; Grujo, M; Freitas, PA Perturbação de Hiperatividade com Défice da Atenção (PHDA) é uma Perturbação do Neurodesenvolvimento com individualidade categorial reconhecida e que interfere significativamente com o funcionamento do indivíduo. A intervenção terapêutica deve ser, necessariamente, adaptada à idade e à condição do indivíduo. Quando está indicado o tratamento farmacológico, o metilfenidato tem sido o fármaco mais utilizado. A medicação, apesar da sua eficácia e da simplicidade do seu uso, não deve ser entendida como sendo a única medida a tomar. Tem sido demonstrado que, na maioria dos casos, está aconselhada uma abordagem multimodal, associando a medicação com intervenções psicoeducativas, intervenções comportamentais e mudanças e/ou ajustamentos educacionais. As intervenções não farmacológicas potenciam e complementam os resultados, podendo permitir a construção de estratégias adaptativas que, tanto a curto, como a longo prazo, podem beneficiar o desempenho do paciente.
- Analysis of Highly Conserved Regions of the 3'UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental RetardationPublication . Santos, M; Yan, J; Temudo, T; Oliveira, G; Vieira, JP; Fen, J; Sommer, S; Maciel, PIn this work we explored the role of the 3'UTR of the MECP2 gene in patients with clinical diagnosis of RTT and mental retardation; focusing on regions of the 3'UTR with almost 100% conservation at the nucleotide level among mouse and human. By mutation scanning (DOVAM-S technique) the MECP2 3'UTR of a total of 66 affected females were studied. Five3'UTR variants in the MECP2 were found (c.1461+9G>A, c.1461+98insA, c.2595G>A, c.9961C>G and c.9964delC) in our group of patients. None of the variants found is located in putative protein-binding sites nor predicted to have a pathogenic role. Our data suggest that mutations in this region do not account for a large proportion of the RTT cases without a genetic explanation.
- Asthma App Use and Interest Among Patients With Asthma: A Multicenter StudyPublication . Jácome, C; Almeida, R; Pereira, AM; Araújo, L; Correia, MA; Pereira, M; Couto, M; Lopes, C; Chaves Loureiro, C; Catarata, MJ; Santos, LM; Ramos, B; Mendes, A; Pedro, E; Cidrais Rodrigues, JC; Oliveira, G; Aguiar, AP; Arrobas, AM; Costa, J; Dias, J; Todo Bom, A; Azevedo, J; Ribeiro, C; Alves, M; Pinto, PL; Neuparth, N; Palhinha, A; Marques, JG; Martins, P; Trincão, D; Neves, A; Todo Bom, F; Santos, M A; Branco, J; Loyoza, C; Costa, A; Silva Neto, A; Silva, D; Vasconcelos, MJ; Teixeira, MF; Ferreira-Magalhães, M; Taborda Barata, L; Carvalhal, C; Santos, N; Sofia Pinto, C; Rodrigues Alves, R; Moreira, AS; Morais Silva, P; Fernandes, R; Ferreira, R; Alves, C; Câmara, R; Ferraz de Oliveira, J; Bordalo, D; Calix, MJ; Marques, A; Nunes, C; Menezes, F; Gomes, R; Almeida Fonseca, J
- Feasibility and Acceptability of an Asthma App to Monitor Medication Adherence: Mixed Methods StudyPublication . Jácome, C; Almeida, R; Pereira, AM; Amaral, R; Mendes, S; Alves-Correia, M; Vidal, C; López Freire, S; Méndez Brea, P; Araújo, L; Couto, M; Antolín-Amérigo, D; de la Hoz Caballer, B; Barra Castro, A; Gonzalez-De-Olano, D; Todo Bom, A; Azevedo, J; Leiria Pinto, P; Pinto, N; Castro Neves, A; Palhinha, Ana; Todo Bom, F; Costa, A; Chaves Loureiro, C; Maia Santos, L; Arrobas, A; Valério, M; Cardoso, J; Emiliano, M; Gerardo, R; Cidrais Rodrigues, JC; Oliveira, G; Carvalho, J; Mendes, A; Lozoya, C; Santos, N; Menezes, F; Gomes, R; Câmara, R; Rodrigues Alves, R; Moreira, AS; Bordalo, D; Alves, C; Ferreira, JA; Lopes, C; Silva, D; Vasconcelos, MJ; Teixeira, MF; Ferreira-Magalhães, M; Taborda-Barata, L; Cálix, MJ; Alves, A; Almeida Fonseca, JBackground: Poor medication adherence is a major challenge in asthma, and objective assessment of inhaler adherence is needed. The InspirerMundi app aims to monitor adherence while providing a positive experience through gamification and social support. Objective: This study aimed to evaluate the feasibility and acceptability of the InspirerMundi app to monitor medication adherence in adolescents and adults with persistent asthma (treated with daily inhaled medication). Methods: A 1-month mixed method multicenter observational study was conducted in 26 secondary care centers from Portugal and Spain. During an initial face-to-face visit, physicians reported patients' asthma therapeutic plan in a structured questionnaire. During the visits, patients were invited to use the app daily to register their asthma medication intakes. A scheduled intake was considered taken when patients registered the intake (inhaler, blister, or other drug formulation) by using the image-based medication detection tool. At 1 month, patients were interviewed by phone, and app satisfaction was assessed on a 1 (low) to 5 (high) scale. Patients were also asked to point out the most and least preferred app features and make suggestions for future app improvements. Results: A total of 107 patients (median 27 [P25-P75 14-40] years) were invited, 92.5% (99/107) installed the app, and 73.8% (79/107) completed the 1-month interview. Patients interacted with the app a median of 9 (P25-P75 1-24) days. At least one medication was registered in the app by 78% (77/99) of patients. A total of 53% (52/99) of participants registered all prescribed inhalers, and 34% (34/99) registered the complete asthma therapeutic plan. Median medication adherence was 75% (P25-P75 25%-90%) for inhalers and 82% (P25-P75 50%-94%) for other drug formulations. Patients were globally satisfied with the app, with 75% (59/79) scoring ≥4,; adherence monitoring, symptom monitoring, and gamification features being the most highly scored components; and the medication detection tool among the lowest scored. A total of 53% (42/79) of the patients stated that the app had motivated them to improve adherence to inhaled medication and 77% (61/79) would recommend the app to other patients. Patient feedback was reflected in 4 major themes: medication-related features (67/79, 85%), gamification and social network (33/79, 42%), symptom monitoring and physician communication (21/79, 27%), and other aspects (16/79, 20%). Conclusions: The InspirerMundi app was feasible and acceptable to monitor medication adherence in patients with asthma. Based on patient feedback and to increase the registering of medications, the therapeutic plan registration and medication detection tool were redesigned. Our results highlight the importance of patient participation to produce a patient-centered and engaging mHealth asthma app.
- Monitoring Adherence to Asthma Inhalers Using the InspirerMundi App: Analysis of Real-World, Medium-Term Feasibility StudiesPublication . Jácome, C; Almeida, R; Pereira, AM; Amaral, R; Vieira-Marques, P; Mendes, S; Alves-Correia, M; Ferreira, JA; Lopes, I; Gomes, J; Araújo, L; Couto, M; Chaves Loureiro, C; Maia Santos, L; Arrobas, A; Valério, M; Todo Bom, A; Azevedo, J; Teixeira, MF; Ferreira-Magalhães, M; Leiria Pinto, P; Pinto, N; Castro Neves, A; Morête, A; Todo Bom, F; Costa, A; Silva, D; Vasconcelos, MJ; Falcão, H; Marques, ML; Mendes, A; Cardoso, J; Cidrais Rodrigues, JC; Oliveira, G; Carvalho, J; Lozoya, C; Santos, N; Menezes, F; Gomes, R; Câmara, R; Rodrigues Alves, R; Moreira, AS; Abreu, C; Silva, R; Bordalo, D; Alves, C; Lopes, C; Taborda-Barata, L; Fernandes, RM; Ferreira, R; Chaves-Loureiro, C; Cálix, MJ; Alves, A; Almeida Fonseca, JBackground: Poor medication adherence is a major challenge in asthma and objective assessment of inhaler adherence is needed. InspirerMundi app aims to monitor inhaler adherence while turning it into a positive experience through gamification and social support. Objective: We assessed the medium-term feasibility of the InspirerMundi app to monitor inhaler adherence in real-world patients with persistent asthma (treated with daily inhaled medication). In addition, we attempted to identify the characteristics of the patients related to higher app use. Methods: Two real-world multicenter observational studies, with one initial face-to-face visit and a 4-month telephone interview, were conducted in 29 secondary care centers from Portugal. During an initial face-to-face visit, patients were invited to use the app daily to register their asthma medication intakes. A scheduled intake was considered taken when patients took a photo of the medication (inhaler, blister, or others) using the image-based medication detection tool. Medication adherence was calculated as the number of doses taken as a percentage of the number scheduled. Interacting with the app ≥30 days was used as the cut-off for higher app use. Results: A total of 114 patients {median 20 [percentile 25 to percentile 75 (P25-P75) 16-36] years, 62% adults} were invited, 107 (94%) installed the app and 83 (73%) completed the 4-month interview. Patients interacted with the app for a median of 18 [3-45] days, translated on a median use rate of 15 [3-38]%. Median inhaler adherence assessed through the app was 34 [4-73]% when considering all scheduled inhalations for the study period. Inhaler adherence assessed was not significantly correlated with self-reported estimates. Median adherence for oral and other medication was 41 [6-83]% and 43 [3-73]%, respectively. Patients with higher app use were slightly older (p = 0.012), more frequently taking medication for other health conditions (p = 0.040), and more frequently prescribed long-acting muscarinic antagonists (LAMA, p = 0.024). After 4 months, Control of Allergic Rhinitis and Asthma Test (CARAT) scores improved (p < 0.001), but no differences between patients interacting with the app for 30 days or less were seen. Conclusions: The InspirerMundi app was feasible to monitor inhaler adherence in patients with persistent asthma. The persistent use of this mHealth technology varies widely. A better understanding of characteristics related to higher app use is still needed before effectiveness studies are undertaken.
- Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male PatientsPublication . Santos, M; Temudo, T; Kay, T; Carrilho, I; Medeira, A; Cabral, H; Gomes, R; Lourenço, T; Venâncio, M; Calado, E; Moreira, A; Oliveira, G; Maciel, PRett syndrome is a genetic neurodevelopmental disorder that affects mainly girls, but mutations in the causative MECP2 gene have also been identified in boys with classic Rett syndrome and Rett syndrome-like phenotypes. We have studied a group of 28 boys with a neurodevelopmental disorder, 13 of which with a Rett syndrome-like phenotype; the patients had diverse clinical presentations that included perturbations of the autistic spectrum, microcephaly, mental retardation, manual stereotypies, and epilepsy. We analyzed the complete coding region of the MECP2 gene, including the detection of large rearrangements, and we did not detect any pathogenic mutations in the MECP2 gene in these patients, in whom the genetic basis of disease remained unidentified. Thus, additional genes should be screened in this group of patients.
- Nationwide Access to Endovascular Treatment for Acute Ischemic Stroke in PortugalPublication . Carvalho Dias, M; Soares dos Reis, R; Santos, JV; Paiva Nunes, A; Ferreira, P; Maia, B; Fragata, I; Reis, J; Ramos Lopes, J; Cruz, L; Santo, G; Machado, E; Gabriel, D; Felgueiras, R; Dória, H; Carneiro, A; Correia, M; Veloso, LM; Barros, P; Gregório, T; Carvalho, A; Ribeiro, M; Teotónio, P; Neto, L; Pinho e Melo, T; Canhão, P; Filipe, JP; Moreira, G; Azevedo, E; Silva, ML; Campos Costa, E; Oliveira, G; Pereira, L; Neves, L; Rodrigues, M; Marto, JP; Calado, S; Grenho, F; Branco, G; Baptista, T; Rocha, J; Ferreira, C; Pinho, J; Amorim, JM; Araújo, JM; Neiva, RM; Viana, J; Lobo, M; Freitas, A; Tedim Cruz, V; Sargento-Freitas, J; Castro Lopes, JIntroduction: Since the publication of endovascular treatment trials and European Stroke Guidelines, Portugal has re-organized stroke healthcare. The nine centers performing endovascular treatment are not equally distributed within the country, which may lead to differential access to endovascular treatment. Our main aim was to perform a descriptive analysis of the main treatment metrics regarding endovascular treatment in mainland Portugal and its administrative districts. Material and methods: A retrospective national multicentric cohort study was conducted, including all ischemic stroke patients treated with endovascular treatment in mainland Portugal over two years (July 2015 to June 2017). All endovascular treatment centers contributed to an anonymized database. Demographic, stroke-related and procedure-related variables were collected. Crude endovascular treatment rates were calculated per 100 000 inhabitants for mainland Portugal, and each district and endovascular treatment standardized ratios (indirect age-sex standardization) were also calculated. Patient time metrics were computed as the median time between stroke onset, first-door, and puncture. Results: A total of 1625 endovascular treatment procedures were registered. The endovascular treatment rate was 8.27/100 000 inhabitants/year. We found regional heterogeneity in endovascular treatment rates (1.58 to 16.53/100 000/year), with higher rates in districts closer to endovascular treatment centers. When analyzed by district, the median time from stroke onset to puncture ranged from 212 to 432 minutes, reflecting regional heterogeneity. Discussion: Overall endovascular treatment rates and procedural times in Portugal are comparable to other international registries. We found geographic heterogeneity, with lower endovascular treatment rates and longer onset-to-puncture time in southern and inner regions. Conclusion: The overall national rate of EVT in the first two years after the organization of EVT-capable centers is one of the highest among European countries, however, significant regional disparities were documented. Moreover, stroke-onset-to-first-door times and in-hospital procedural times in the EVT centers were comparable to those reported in the randomized controlled trials performed in high-volume tertiary hospitals.
- A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary CiliaPublication . Martins, M; Oliveira, AR; Martins, S; Vieira, JP; Perdigão, P; Fernandes, AR; de Almeida, LP; Palma, PJ; Sequeira, DB; Santos, JM; Duque, F; Oliveira, G; Cardoso, AL; Peça, J; Seabra, CMDisruptions in the MBD5 gene have been linked with an array of clinical features such as global developmental delay, intellectual disability, autistic-like symptoms, and seizures, through unclear mechanisms. MBD5 haploinsufficiency has been associated with the disruption of primary cilium-related processes during early cortical development, and this has been reported in many neurodevelopmental disorders. In this study, we describe the clinical history of a 12-year-old child harboring a novel MBD5 rare variant and presenting psychomotor delay and seizures. To investigate the impact of MBD5 haploinsufficiency on neural primary cilia, we established a novel patient-derived cell line and used CRISPR-Cas9 technology to create an isogenic control. The patient-derived neural progenitor cells revealed a decrease in the length of primary cilia and in the total number of ciliated cells. This study paves the way to understanding the impact of MBD5 haploinsufficiency in brain development through its potential impact on neural primary cilia.
- 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.
- Pediatria do Neurodesenvolvimento. Levantamento Nacional de Recursos e NecessidadesPublication . Oliveira, G; Duque, F; Duarte, C; Melo, F; Teles, L; Brito, M; Vale, MC; Guimarães, MJ; Gouveia, RAs perturbações do neurodesenvolvimento são das patologias crónicas mais frequentes da infância e com tendência a aumentar nas sociedades modernas. Têm na grande maioria dos casos um percurso crónico e com limitação da aprendizagem necessária para a integração na sociedade de um modo autónomo. A Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria procedeu em 2008 e 2009 ao levantamento de recursos, movimento e necessidades na área assistencial do neurodesenvolvimento no universo de 49 hospitais portugueses com Pediatria, referente a 31 de Dezembro de 2007. Responderam 42 (85.7%) hospitais. O número total de consultas de desenvolvimento representou 10.7% das de Pediatria, e foi- -lhe imputada uma mediana de tempo de 20 horas por semana. Dedicavam-se ao desenvolvimento 82 pediatras, mas mais de dois terços só o fazia a tempo parcial. Outros profissionais (fisiatras, psicólogos, terapeutas da fala, terapeutas ocupacionais, fisioterapeutas, docentes e técnicos de Serviço Social) faziam parte das equipas do desenvolvimento, mas em menor número que os pediatras, e de igual modo só raramente a tempo completo. Aguardava por consulta de desenvolvimento uma mediana de 185 crianças, e o tempo de espera variou entre um e 18 meses(mediana de seis). No seu conjunto os hospitais a curto prazo recrutariam 34 Pediatras para se dedicarem à área do neurodesenvolvimento,metade em regime de tempo completo. Dos outros profissionais requisitados [psicólogos (21), terapeutas da fala (20), docentes (20), terapeutas ocupacionais (14), fisioterapeutas (8) e técnicos do Serviço Social (6)], solicitavam-nos a tempo inteiro. Concluí-se que o movimento assistencial específico desta área no contexto global da Pediatria representa já um número significativo de consultas. Ainda assim, a resposta na área do neurodesenvolvimento revelou-se insuficiente e as equipas não funcionavam na generalidade em trabalho multidisciplinar. Contudo, os pedidos solicitados de recursos humanos médicos e não médicos e a preferência de que a dedicação ao neurodesenvolvimento fosse a tempo completo reflecte uma evolução positiva a curto prazo, caso estes recrutamentos se venham a concretizar.