Browsing by Author "Gouveia, S."
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- Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disordersPublication . Fernández-Marmiesse, A.; Morey, M.; Pineda, M.; Eiris, J.; Couce, M.; Castro-Gago, M.; Fraga, J.; Lacerda, L.; Gouveia, S.; Pérez-Poyato, M.; Armstrong, J.; Castiñeiras, D.; Cocho, J.BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including phenotype and penetrance variability, shared signs and symptoms, and problems inherent to biochemical diagnosis. Developing a powerful diagnostic tool could mitigate the protracted diagnostic process for these families, lead to better outcomes for current and proposed therapies, and provide the basis for more appropriate genetic counseling. METHODS: We have designed a targeted resequencing assay for the simultaneous testing of 57 lysosomal genes, using in-solution capture as the enrichment method and two different sequencing platforms. A total of 84 patients with high to moderate-or low suspicion index for LSD were enrolled in different centers in Spain and Portugal, including 18 positive controls. RESULTS: We correctly diagnosed 18 positive blinded controls, provided genetic diagnosis to 25 potential LSD patients, and ended with 18 diagnostic odysseys. CONCLUSION: We report the assessment of a next-generation-sequencing-based approach as an accessory tool in the diagnosis of LSDs, a group of disorders which have overlapping clinical profiles and genetic heterogeneity. We have also identified and quantified the strengths and limitations of next generation sequencing (NGS) technology applied to diagnosis.
- Effect of Hemodynamic Changes in Plasma Propofol Concentrations Associated with Knee-Chest Position in Spinal Surgery: A Prospective StudyPublication . Chalo, D.; Pedrosa, S.; Amorim, Pedro; Silva, A.; Guedes de Pinho, P.; Correia, R.; Gouveia, S.; Sancho, C.Background: Anesthesia induction and maintenance with propofol can be guided by target-controlled infusion (TCI) systems using pharmacokinetic (Pk) models. Physiological variables, such as changes in cardiac output (CO), can influence propofol pharmacokinetics. Knee-chest (KC) surgical positioning can result in CO changes. Objectives: This study aimed to evaluate the relationship between propofol plasma concentration prediction and CO changes after induction and KC positioning. Methods: This two-phase prospective cohort study included 20 patients scheduled for spinal surgery. Two different TCI anesthesia protocols were administered after induction. In phase I (n = 9), the loss of consciousness (LOC) concentration was set as the propofol target concentration and CO changes following induction and KC positioning were quantified. In phase II (n = 11), based on data from phase I, two reductions in the propofol target concentration on the pump were applied after LOC and before KC positioning. Propofol plasma concentrations were measured at different moments in both phases: after induction and after KC positioning. Results: Schnider Pk model showed a good performance in predicting propofol concentration after induction; however, after KC positioning, when a significant drop in CO occurred, the measured propofol concentrations were markedly underestimated. Intended reductions in the propofol target concentration did not attenuate HD changes. In the KC position, there was no correlation between the propofol concentration estimated by the Pk model and the measured concentration in plasma, as the latter was much higher (P = 0.013) while CO and BIS decreased significantly (P < 0.001 and P = 0.004, respectively). Conclusions: Our study showed that the measured propofol plasma concentrations during the KC position were significantly underestimated by the Schnider Pk model and were associated with significant CO decrease. When placing patients in the KC position, anesthesiologists must be aware of pharmacokinetic changes and, in addition to standard monitoring, the use of depth of anesthesia and cardiac output monitors may be considered in high-risk patients.
- Prediction of one year mortality in extremely premature newborns using classification treesPublication . Januário, A.; Gouveia, S.; Pinto da Costa, J.; Sá, M.; Almeida, A.; Carvalho, C.; Saraiva, J.; Fonte, M.; Soares, P.
- Preterm infants under 27 weeks gestational age: outcomes in a tertiary hospitalPublication . Sá, M.; Fonte, M.; Carvalho, C.; Soares, P.; Almeida, A.; Januário, A.; Gouveia, S.; Saraiva, J.Introduction: Over the last decades, survival of extremely preterm infants improved but there´s still significant morbidity among this group. We pretend to evaluate if specific attitudes/characteristics are associated with higher survival or survival without severe disabilities and elaborate predicting outcome models. Material and Methods: Observational descriptive study, including the 205 liveborn/stillborn infants -gestational age 22w0d-26w6d- born at an Obstetrics Unit or transferred to a Neonatology Unit of a Level III Hospital, from January-2000 to December-2009. We collected variables related to management in the prenatal/neonatal period, neonate performances and psychomotor development (18-24 months). Significant associations between variables/outcomes were identified by chi-square test or t-test; multivariate logistic regression models were used to describe and predict mortality/morbidity. Results: Advanced Gestational Age (GA) (p=0.001), antenatal corticotherapy(p=0.001), cesarean section(p=0.001), inborn delivery(p=0.021) and increased weight(p=0.001) were associated with survival. Absence of Intraventricular Hemorrhage (IVH) grade 3-4(p=0.001) and absence of Periventricular Leukomalacia (PVL) (p=0.005) were associated with survival without severe neurossensorial deficit. According to multivariable models, advanced GA (OR=0.353,CI95% 0.208-0.599), increased weight (OR=0.996,CI95% 0.993-0.999) and antenatal corticotherapy (OR=0.150,CI95% 0.044-0.510) were associated with lower mortality risk. Rupture of membranes less than 12 h duration was associated with higher mortality risk (OR=3.88,CI95% 1.406-10.680). IVH grades 3-4 was associated with higher morbidity risk (OR=16.931,CI95% 2.744-104.452). Mortality and severe morbidity models predicted correctly the outcome in 78.1% and 85.7% of the cases, respectively. Conclusions: Mortality/morbidity models might be valuable tools providing insight in the prediction of the outcome of these neonates and helping parental counseling.