Browsing by Author "Silva, R"
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- Anemia de Células Falciformes e Acidente Vascular Cerebral: Uma História EvitávelPublication . Simões, AS; Garcia, P; Fernandes, I; Ventura, L; Silva, R; Barata, DIntrodução: Na criança, a etiologia do acidente vascular cerebral (AVC) é conhecida em 75% dos casos, sendo a anemia de células falciformes (ACF) a mais frequente na criança de raça negra. O interesse deste caso clínico reside na forma de apresentação pouco habitual e curso evitável. Caso clínico: Criança de raça negra com 27 meses de idade, sem antecedentes relevantes, admitida por sinais neurológicos focais de instalação súbita. A tomografia computorizada cranio-encefálica e ressonância magnética evidenciaram lesão isquémica aguda extensa e alterações compatíveis com AVC silencioso prévio. Analiticamente apresentava anemia normocítica, muitos drepanocitos de formação espontânea e 87% de hemoglobina S. Neste contexto, foi submetida a transfusão-permuta. Conclusão: O AVC como complicação da ACF pode acontecer em idades precoces e surgir como quadro inaugural. Pensamos que se justifica divulgar o rastreio pré-natal e realizar um estudo da relação custo-benefício para a implementação de um rastreio neonatal desta patologia em Portugal.
- Arterial Ischemic Stroke as a Rare Early Complication of Varicella in ChildrenPublication . Alcafache, M; Silva, R; Conceição, C; Brito, MJ; Vieira, JP
- Biomarkers and Genetic Modulators of Cerebral Vasculopathy in Sub-Saharan Ancestry Children With Sickle Cell AnemiaPublication . Silva, M; Vargas, S; Coelho, A; Ferreira, E; Mendonça, J; Vieira, L; Maia, R; Dias, A; Ferreira, T; Morais, A; Soares, IM; Lavinha, J; Silva, R; Kjöllerström, P; Faustino, PWe investigated biomarkers and genetic modulators of the cerebral vasculopathy (CV) subphenotype in pediatric sickle cell anemia (SCA) patients of sub-Saharan African ancestry. We found that one VCAM1 promoter haplotype (haplotype 7) and VCAM1 single nucleotide variant rs1409419_T were associated with stroke events, stroke risk, as measured by time-averaged mean of maximum velocity in the middle cerebral artery, and with high serum levels of the hemolysis biomarker lactate dehydrogenase. Furthermore, VCAM-1 ligand coding gene ITGA4 variants rs113276800_A and rs3770138_T showed a positive association with stroke events. An additional positive relationship between a genetic variant and stroke risk was observed for ENPP1 rs1044498_A. Conversely, NOS3 variants were negatively associated with silent cerebral infarct events (VNTR 4b_allele and haplotype V) and CV globally (haplotype VII). The -alpha3.7kb-thal deletion did not show association with CV. However, it was associated with higher red blood cell and neutrophil counts, and lower mean corpuscular volume, mean corpuscular hemoglobin and red cell distribution width. Our results underline the importance of genetic modulators of the CV sub-phenotype and their potential as SCA therapeutic targets. We also propose that a biomarker panel comprising biochemical, hematological, imaging and genetic data would be instrumental for CV prediction, and prevention.
- Breech Presentation: Vaginal Versus Cesarean Delivery, Which Intervention Leads to the Best Outcomes?Publication . Fonseca, A; Silva, R; Rato, I; Neves, AR; Peixoto, C; Ferraz, Z; Ramalho, I; Carocha, A; Félix, N; Valdoleiros, S; Galvão, A; Gonçalves, D; Curado, J; Palma, MJ; Lobo Antunes, I; Clode, N; Graça, LINTRODUCTION: The best route of delivery for the term breech fetus is still controversial. We aim to compare maternal and neonatal outcomes between vaginal and cesarean term breech deliveries. MATERIAL AND METHODS: Multicentric retrospective cohort study of singleton term breech fetuses delivered vaginally or by elective cesarean section from January 2012 - October 2014. Primary outcomes were maternal and neonatal morbidity or mortality. RESULTS: Sixty five breech fetuses delivered vaginally were compared to 1262 delivered by elective cesarean. Nulliparous women were more common in the elective cesarean group (69.3% vs 24.6%; p < 0.0001). Gestational age at birth was significantly lower in the vaginal delivery group (38 ± 1 weeks vs 39 ± 0.8 weeks; p = 0.0029) as was birth weight (2928 ± 48.4 g vs 3168 ± 11.3 g; p < 0.0001). Apgar scores below seven on the first and fifth minutes were more likely in the vaginal delivery group (1st minute: 18.5% vs 5.9%; p = 0.0006; OR 3.6 [1.9 - 7.0]; 5th minute: 3.1% vs 0.2%; p = 0.0133; OR 20.0 [2.8 - 144.4]), as was fetal trauma (3.1% vs 0.3%: p = 0.031; OR 9.9 [1.8-55.6]). Neither group had cases of fetal acidemia. Admission to the Neonatal Intensive Care Unit, maternal postpartum hemorrhage and the incidence of other obstetric complications were similar between groups. DISCUSSION: Although vaginal breech delivery was associated with lower Apgar scores and higher incidence of fetal trauma, overall rates of such events were low. Admission to the neonatal intensive care unit and maternal outcomes were similar. CONCLUSION: Both delivery routes seem equally valid, neither posing high maternal or neonatal complications' incidence.
- Clinical, Economic, and Humanistic Impact of Short-Bowel Syndrome/Chronic Intestinal Failure in Portugal (PARENTERAL Study)Publication . Silva, R; Guerra, P; Rocha, A; Correia, M; Ferreira, R; Fonseca, J; Lima, E; Oliveira, A; Vargas Gomes, M; Ramos, D; Andreozzi, V; Santos, MDIntroduction: This study aimed to assess the clinical, economic, and humanistic impact of short-bowel syndrome/chronic intestinal failure (SBS/CIF) in Portugal. Methods: This is a retrospective multicenter cohort chart review study, with a cross-sectional component for quality-of-life (QoL) evaluation. Inclusion criteria comprised patients with SBS/CIF, aged ≥1 year, with stable parenteral nutrition (PN). Data collection included patient chart review over a 12-month period and patient/caregiver self-report and SF-36/PedsQL™ questionnaires. Main endpoints comprised clinical and PN characterization, healthcare resource use (HRU), direct costs, and patient QoL. Results: Thirty-one patients were included (11 adults and 20 children). Patients' mean age (standard deviation [SD]) was 57.9 (14.3) years in adults and 7.5 (5.0) years in children, with a mean time since diagnosis of 10.2 (5.9) and 6.6 (4.2) years, respectively. PN was administered for a mean of 5.2 and 6.6 days/week in adults and children, respectively; home PN occurred in 81.8% of adults and 90.0% of children for a mean of 9.6 and 10.8 months/year, respectively. The mean annual number of hospitalizations was 1.9 and 2.0 which lasted for a mean of 34.0 and 29.4 days in adults and children, respectively. Twenty-one and forty hospitalization episodes were reported in adults and children, respectively, of which 71.4% and 85.0% were due to catheter-related complications. Mean annual direct costs per patient amounted to 47,857.53 EUR in adults and 74,734.50 EUR in children, with PN and hospitalizations as the main cost-drivers. QoL assessment showed a clinically significant impaired physical component in adults and a notable deterioration in the school functioning domain in children. Conclusion: In Portugal, SBS/CIF patient management is characterized by a substantial therapeutic burden and HRU, translating into high direct costs and a substantial impairment of the adults' physical function and children's school functioning.
- Coma Hipocalcémico por Hipervitaminose DPublication . Fonte Santa, S; Chicamba, V; Valente, R; Ventura, L; Ramos, J; Barata, D; Fonseca, G; Silva, RA intoxicação pela vitamina D é uma causa bem conhecida de hipercalcémia e hiperfosfatemia. Nos casos de intoxicação crónica, quando o produto fosfocálcico é superior a 60 mg2/dl2, verifica-se a deposição de cristais de fosfato de cálcio, nos tecidos moles, com subsequente hipocalcémia. Apresenta-se o caso de uma lactente de três meses de idade, com antecedentes pessoais irrelevantes, internada na Unidade de Cuidados Intensivos Pediátricos, por tetania e coma resultante da intoxicação crónica acidental pela vitamina D, desde os dez dias de vida. Apresentava hipocalcémia (cálcio total 4,44mg/dl e cálcio ionizado 0,45 mg/dl) e hiper-fosfatémia (fósforo 17,8 mg/dl) grave, sendo o produto fosfocálcico de 79 mg2/dl2. A intoxicação pela vitamina D e hipocalcémia paradoxal foi confirmada pelo doseamento de 1,25-vitamina D.
- Comentários ao Número de Verão da Acta Pediátrica Portuguesa (2008:39(4))Publication . Pimentel, S; Silva, R; Calado, E
- Cytomegalovirus Infection in a Infant with Ventriculomegaly is ist Congenital or Postnatal?Publication . Moreira, T; Póvoas, M; Brito, MJ; Silva, R; Machado, R
- Developing and Validating High-Value Patient Digital Follow-Up Services: a Pilot Study in Cardiac SurgeryPublication . Londral, A; Azevedo, S; Dias, P; Ramos, C; Santos, J; Martins, F; Silva, R; Semedo, H; Vital, C; Gualdino, A; Falcão, J; Lapão, LV; Coelho, P; Fragata, JBackground: The existing digital healthcare solutions demand a service development approach that assesses needs, experience, and outcomes, to develop high-value digital healthcare services. The objective of this study was to develop a digital transformation of the patients' follow-up service after cardiac surgery, based on a remote patient monitoring service that would respond to the real context challenges. Methods: The study followed the Design Science Research methodology framework and incorporated concepts from the Lean startup method to start designing a minimal viable product (MVP) from the available resources. The service was implemented in a pilot study with 29 patients in 4 iterative develop-test-learn cycles, with the engagement of developers, researchers, clinical teams, and patients. Results: Patients reported outcomes daily for 30 days after surgery through Internet-of-Things (IoT) devices and a mobile app. The service's evaluation considered experience, feasibility, and effectiveness. It generated high satisfaction and high adherence among users, fewer readmissions, with an average of 7 ± 4.5 clinical actions per patient, primarily due to abnormal systolic blood pressure or wound-related issues. Conclusions: We propose a 6-step methodology to design and validate a high-value digital health care service based on collaborative learning, real-time development, iterative testing, and value assessment.
- Endovascular Treatment of Pediatric Ischemic Stroke: a Single Center Experience and Review of the LiteraturePublication . Fragata, I; Morais, T; Silva, R; Paiva Nunes, A; Loureiro, P; Martins, JD; Pamplona, J; Carvalho, R; Baptista, M; Reis, JIntroduction: Mechanical thrombectomy is standard treatment for large vessel occlusion (LVO) in adults. There are no randomized controlled trials for the pediatric population. We report our single-center experience with thrombectomy of LVO in a series of pediatric patients, and perform a review of the literature. Methods: Retrospective review of consecutive pediatric thrombectomy cases between 2011 and 2018. Demographic variables, imaging data, technical aspects and clinical outcome were recorded. Results: In a period of 7 years, 7 children were treated for LVO at our center. Median age was 13 (2-17), and median Ped-NIHSS was 15 (3-24), and the median ASPECTS was 8 (2-10). Five patients had cardiac disease, and 2 of them were under external cardiac assistance. Median time from onset of symptoms to beginning of treatment was 7h06m (2h58m-21h38m). Five patients had middle cerebral artery occlusions. Thrombectomy was performed using a stentriever in 3 patients, aspiration in 3 patients, and combined technique in 1 patient. Six patients had good recanalization (TICI 2 b/3). There were no immediate periprocedural complications. At 3 months, 4 patients (57%) were independent (mRS score <3). Two patients died, one after haemorrhagic transformation of an extensive MCA infarct, and one due to extensive brainstem ischemia in the setting of varicella vasculitis. Discussion: Selected pediatric patients with LVO may be treated with mechanical thrombectomy safely. In patients under external cardiac assistance and under anticoagulation, thrombectomy is the only alternative for treatment of LVO. A multidisciplinary approach in specialized pediatric stroke centers with trained neurointerventionalists are essential for good results.