Browsing by Author "Rodrigues, R"
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- Air Pollution and Cardiovascular Diseases: a Position PaperPublication . Caldeira, D; Franco, F; Bravo Baptista, S; Cabral, S; Cachulo, MC; Dores, H; Peixeiro, A; Rodrigues, R; Santos, M; Timóteo, AT; Vasconcelos, J; Gonçalves, LAir pollution is one of the main environmental risk factors for health and is linked to cardiovascular diseases, which are the leading cause of mortality worldwide. In this position paper, we discuss the main air pollutants and how they can promote the development of cardiovascular disease or cardiovascular events. We also summarise the main evidence supporting the association between air pollution and cardiovascular events, such as coronary events (acute coronary syndromes/myocardial infarction; chronic coronary syndromes), stroke, heart failure and mortality. Some recommendations are made based on these data and the European Society of Cardiology guidelines on cardiovascular disease prevention, acknowledging that it is important to increase awareness and literacy on this topic in Portugal.
- Iatrogenic Fistula Between the Aorta and the Right Ventricular Outflow Tract After Melody Valve Implantation: Case Report and Literature ReviewPublication . Loureiro, P; Martins, JF; Fraisse, A; Rodrigues, R; Fragata, J; Pinto, MFWe present the first case of an iatrogenic aorta to right ventricular outflow tract fistula after Melody valve implantation. A 11-year-old girl, born with tetralogy of Fallot with absent pulmonary valve, underwent surgical repair at three years old with a 15-mm homograft. At five years old, calcification and stenosis of the homograft prompted successful balloon angioplasty and five years later she underwent Melody valve implantation. During follow-up, she began to suffer fatigue on moderate exertion. Echocardiography, cardiac catheterization and computed tomography were performed and showed a significant fistula between the right coronary ostium and the right ventricular outflow tract proximal to the implanted valve. The patient underwent surgical repair and in long-term follow-up there is no evidence of the fistula. Iatrogenic fistula between the ascending aorta and the right ventricular outflow tract after percutaneous pulmonary valve implantation is an uncommon complication, and may grow over time. A high level of suspicion is required for this rare complication and a final aortography may be necessary for the diagnosis.
- Jogos Eletrónicos e Saúde Mental na InfânciaPublication . Rodrigues, R; Almeida, CIntrodução: Dados recentes aproximam o uso patológico de jogos eletrónicos a outras adições, sugerindo a possibilidade de estarmos diante de uma nova perturbação psiquiátrica dentro da categoria dos comportamentos aditivos. A taxa de prevalência desta problemática na população pediátrica ronda os 10%. Frequentemente, o uso patológico de jogos eletrónicos está associado a comorbi - lidades psiquiátricas, como perturbações de humor e PHDA (perturbação de hiperatividade e défice de atenção). Objetivos: Caracterizar o padrão de utilização de jogos eletrónicos numa amostra clínica de crianças entre os 6 e os 12 anos e a sua associação com comorbilidades psiquiátricas. Métodos: Revisão e construção de questionários de avaliação do uso de jogos eletrónicos aplicáveis a crianças e seus cuidadores. Aplicação dos questionários a uma amostra de conveniência de crianças seguidas em consul ta de Pedopsiquiatria, juntamente com o questionário de Capacidades e Dificuldades, adaptado de Goodman 2005, para avaliação do funcionamento global. Consulta dos processos clínicos para recolha do diagnóstico psiquiátrico e outros dados relevantes. Análise descritiva e correlação entre variáveis (IC 95%, p<0.05). Resultados: Na nossa amostra (n=58), 31% das crianças eram do sexo feminino, com média de idades=9. Em média, as crianças passavam uma hora em jogos eletrónicos e duas horas a ver televisão, por dia, durante uma semana de aulas. O funcionamento global , principalmente no que diz respei to às competências sociais e aos problemas de comportamento, estava correlacionado com o padrão de uso de jogos eletrónicos (rs=0,295, p<0,05). Um terço das crianças apresentava uso excessivo de jogos eletrónicos. Neste grupo, o diagnóstico mais comum era a PHDA. Muitas crianças jogavam jogos eletrónicos destinados a adultos, com autorização dos pais. Conclusões: São necessários mais estudos para estabelecer critérios diagnósticos de uso patológico de jogos eletrónicos em crianças. Este tópico não deve ser descurado na avaliação pedopsiquiátrica de rotina e objeto de discussão com os pais, principalmente na presença do perfil de jogador caraterístico
- Jogos Eletrónicos e Saúde MentalPublication . Milheiro, C; Rodrigues, R
- Mechanical Circulatory Support in Children: Strategies, Challenges and Future DirectionsPublication . Abreu, S; Brandão, C; Trigo, C; Rodrigues, R; Pinto, F; Fragata, JIntroduction: The use of mechanical circulatory support (MCS) in the pediatric population has evolved significantly in the past 20 years, but its management still poses several challenges. We aim to describe patient characteristics, outcomes, and morbidity associated with different modalities of MCS, in a tertiary center. Methods: Retrospective analysis of data from all the children who underwent MCS between 2002 and 2018 at a pediatric cardiology unit. Results: Between 2002 and 2018, 22 devices were implanted in 20 patients. Patients were divided into three groups: Group A (n=11) extracorporeal membrane oxygenator (ECMO); Group B (n=8) pulsatile paracorporeal ventricular assist device (VAD) and group C (n=3) paracorporeal continuous flow VAD. The median age was similar in groups A and B (18 and 23 months, respectively), and higher in group C (13 years). ECMO patients were cannulated mainly as a bridge to recovery (post cardiotomy- 8) while group B and C patients were bridged to transplantation. The most frequent complications were bleeding (group A - 36%, group C - 66.6%) and thromboembolic events (group B - 50%, group C - 33.3%). As for outcomes, in group A the majority of patients (54.5%) were weaned and 27.3% died. Half of group B and all of group C patients underwent transplantation. Conclusion: Bleeding and thromboembolic events were the main complications observed. Group B showed the highest mortality, probably related to the low weight of the patients. Overall, outcomes and complications are related to the type of device and patient status and characteristics.
- Primary Disorders of Neurotransmitter Metabolism: Experience of a Tertiary CenterPublication . Duarte, S; Sequeira, S; Rodrigues, R; Calado, ENeurotransmitter diseases are a group of inherited disorders attributable to a disturbance of neurotransmitter metabolism. Biogenic amines are neurotransmitters with multiple roles including psychomotor function, hormone secretion, cardiovascular, respiratory and gastrointestinal control, sleep mechanisms, body temperature and pain. Given the multiple functions of monoamines, disorders of their metabolism comprise a wide spectrum of manifestations, with motor dysfunction being the most prominent clinical feature. Methods: Case review of 12 patients from 4 families, with primary disorders of biogenic amine metabolism. Results: Aromatic L-amino acid decarboxylase deficiency (4 patients from 2 families), and GTP-cyclohydrolase (8 patients from 2 families) were the two diseases identified. Age at first symptoms varied between 2 months and 6 years. Developmental delay was present in all cases except 2 patients with GTP cyclohydrolase deficiency. The combination of axial hypotonia and limb dystonia was also frequent. Children with aromatic L-amino acid decarboxylase deficiency exhibited temperature instability, oculogyric crisis and disturbances of sleep. The index case of one family with GTP cyclohydrolase deficiency presented with Parkinsonism (bradykinesia, rigidity and hypomimia). Analysis of neurotransmitters and their metabolites in CSF was crucial for the identification of index cases. Response to therapy was variable but in general unsatisfactory except in a family with GTP cyclohydrolase deficiency. Conclusions: These disorders should be considered in the differential diagnosis of paediatric neurodegenerative diseases, in order to allow an adequate therapeutic trial that can favor prognosis.
- Quality of Life Among Adults with Repaired Tetralogy of Fallot: a Literature ReviewPublication . Rodrigues, C; Silva, M; Cerejo, R; Rodrigues, R; Sousa, L; Trigo, C; Branco, LM; Agapito, A; Fragata, JTetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect. Survival into adulthood is currently expected following surgical repair, leading to a growing population of adults with repaired TOF. In this literature review, we aim to summarize the current state of knowledge on the quality of life of adults with repaired TOF. A search was conducted on PubMed and results were reviewed for articles published between January of 2010 and June of 2020. Search terms included "Tetralogy of Fallot", "repaired", "adults" and "quality of life". For the subjective health status evaluation, most published studies used Short-Form-36. Most studies agree that physical complex status is poorer for adult patients with repaired TOF than for controls. Mental complex status was also lower. Patients reported similar satisfaction with their lives and levels of social participation. Most patients had a college or university degree. Higher education, male gender and having a partner were positively associated with being employed. Studies found no difference in the proportion of patients that are married or living with a partner, compared to control groups. Patients operated for TOF have a lower reproduction rate compared with the background population. A consistent finding of these studies is abnormal physical parameters compared to psychosocial issues. The diverse needs of adults with repaired TOF require a multidisciplinary care, that takes into consideration all aspects that affect their quality of life. Despite abnormal physical functional status, it is reassuring that most adult patients with TOF lead independent and productive lives.
- A Síndrome de Smith-Lemli-Opitz: Características Fenotípicas e Genotípicas dos Doentes PortuguesesPublication . Cardoso, ML; Bandeira, A; Lopes, A; Rodrigues, M; Venâncio, M; Sales Marques, J; Janeiro, P; Ferreira, I; Quelhas, D; Sequeira, S; Soares, G; Lourenço, T; Rodrigues, R; Gaspar, A; Nunes, L; Marques, F; Martins, EA síndrome de Smith-Lemli-Opitz (SLOS) é uma síndrome polimalformativa de transmissão autossómica recessiva causada por um défice metabólico da biossíntese do colesterol, que se caracteriza por dismorfias craniofaciais, anomalias congénitas de vários órgãos (salientando-se as do esqueleto e do aparelho urogenital), restrição de crescimento intra-uterino (RCIU), alterações comportamentais e atraso mental. É causada por mutações no gene DHCR7, que codifica para a enzima 7-dehidrocolesterol reductase, responsável pelo último passo da via metabólica da síntese do colesterol. A SLOS caracteriza-se por níveis diminuídos de colesterol e concentrações altas do seu precursor, 7-dehidrocolesterol, no sangue e tecidos. Procedeu-se a uma análise comparativa dos fenótipo e genótipo de quinze casos de SLOS de origem portuguesa, e são tecidas considerações quanto às dificuldades e limitações inerentes ao diagnóstico, e ao facto de esta doença hereditária do metabolismo dever ser considerada no diagnóstico diferencial das situações de (i) hipocolesterolémia, (ii) RCIU e (iii) síndromes polimalformativas,(especialmente quando crianças com atraso de crescimento apresentam simultaneamente sindactilia do segundo e terceiro dedos do pé e microcefalia e/ou narinas antevertidas entre outras anomalias).
- Surgical Ablation of Atrial Fibrillation and Left Atrial Appendage Occlusion by a Totally Videothoracoscopic Approach - New Paradigm?Publication . Rodrigues, C; Silva, M; Cerejo, R; Portugal, G; Cunha, PS; Rodrigues, R; Oliveira, MM; Fragata, JIntroduction: Atrial fibrillation (AF) contributes to increased morbidity and mortality. Pharmacological and percutaneous catheter therapies are unsatisfactory, with potential serious adverse effects. Cox-Maze III/IV surgery, with higher rates of success, has not been widely adopted because of the associated complexity of the procedure. Methods: We performed a retrospective analysis of the first patients submitted to surgical ablation of AF with occlusion of the left atrial appendage with a totally videothoracoscopic (VATS) approach in our institution. We describe the surgical technique and our results, including duration of surgery, hospital stay, complications and maintenance of sinus rhythm after surgery, at 6, 12 and 18 months of follow-up. Results: We studied 15 patients (ages ranging from 39 to 75 years old; 54,5% female gender). Mean time since the diagnosis of AF was 5,75 years. All had been submitted to prior catheter ablation (mean of 2 attempts). Mean diameter and volume of the left atrium was 42 mm (M-mode) and 70 ml (43 ml/m2), respectively. Mean duration of surgery was 2 hours and 22 minutes. In one patient we had to convert the surgery to median sternotomy. Mean hospital stay was 4,8 days. Mean time of follow-up was 12 months. During follow-up, 91%, 90% and 80% of the patients were in sinus rhythm at 6, 12 and 18 months, respectively. Conclusion: This surgical approach represents a real benefit for those patients with multiple attempts of catheter ablation without success. However, a larger sample of patients with a longer period of follow-up is necessary for further conclusions.
- The Lockdown Impact on the Relations between Portuguese Parents and Their 1- to 3-Year-Old Children during the COVID-19 PandemicPublication . Vian, F; Amaro, R; Pinto, SV; de Brito, H; Rodrigues, R; Rapazote, R; Caldeira da Silva, P; Alves, M; Papoila, ALMany countries have applied mandatory confinement measures in response to the COVID-19 pandemic, such as school and kindergarten closures, which confined families to their homes. The study concerns the impacts of the first COVID-19 lockdown on the relationships between Portuguese parents and their children, in a non-clinical population composed of fathers and mothers of children between the ages of 12 months and 3 years and 364 days. An online questionnaire (set by the research team) and the Parenting Daily Hassles Scale (PDHS) concerning the confinement period were applied between 17 June and 29 July 2020. To assess the impacts of the lockdown, outcomes regarding the impacts perceived by the parents, the potential regression in the development of children, and the willingness to promote changes in family routines in the future, were considered. Of the total sample (n = 1885), 95.4% of the parents (n = 1798) said that, after confinement, the relationship with their children had improved or remained similar to the pre-confinement period; 97.3% (n = 1835) noticed positive changes in the development of their children, and 63.7% (n = 1200) noted that the relationships with their children during the confinement period would lead to some changes in family routines in the future. Multivariate regression analyses showed that most of the sociodemographic variables chosen were not associated with the outcomes. However, significant levels of pressure over parenting and parental overload (reported by high scores in the PDHS intensity and frequency scales), challenging behaviors of the children, and the impacts they had on parental tasks had negative influences on the studied outcomes. On the contrary, the number of adults living with their children, the perceptions regarding the development of their children, and sharing new experiences with them were significant factors for positively-perceived impacts on the relationships between them or in the desire to bring about changes in family routines in the future. The impacts of the lockdown on the relationships between parents and children aged between 1 and 3 years old were more dependent on relational aspects and on the parents' sense of competence in exercising parental functions. We conclude that, despite the increased demands imposed by the lockdown, nearly all of the parents evaluated the quality of the relationship with their children as positive after this period.