Browsing by Author "Carvalho, L."
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- Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast BrazilPublication . Vieira Neto, Eduardo; Laranjeira, F.; Quelhas, D.; Ribeiro, I.; Seabra, A.; Mineiro, N.; Carvalho, L.; Lacerda, L.; Ribeiro, M.Background: Genetic heterogeneity and compound heterozygosis give rise to a continuous spectrum of phenylalanine hydroxylase deficiency and metabolic phenotypes in phenylketonuria (PKU). The most used parameters for evaluating phenotype in PKU are pretreatment phenylalanine (Phe) levels, tolerance for dietary Phe, and Phe overloading test. Phenotype can vary from a "classic" (severe) form to mild hyperphenylalaninemia, which does not require dietary treatment. A subset of patients is responsive to treatment by the cofactor tetrahydrobiopterin (BH4 ). Genotypes of PKU patients from Rio de Janeiro, Brazil, were compared to predicted and observed phenotypes. Genotype-based estimations of responsiveness to BH4 were also conducted. Methods: Phenotype was defined by pretreatment Phe levels. A standard prediction system based on arbitrary assigned values was employed to measure genotype-phenotype concordance. Patients were also estimated as BH4 -responders according to the responsiveness previously reported for their mutations and genotypes. Results: A 48.3% concordance rate between genotype-predicted and observed phenotypes was found. When the predicted phenotypes included those reported at the BIOPKU database, the concordance rate reached 77%. A total of 18 genotypes from 30 patients (29.4%) were estimated as of potential or probable BH4 responsiveness. Inconsistencies were observed in genotypic combinations including the common "moderate" mutations p.R261Q, p.V388M, and p.I65T and the mild mutations p.L48S, p.R68S, and p.L249F. Conclusion: The high discordance rate between genotype-predicted and observed metabolic phenotypes in this study seems to be due partially to the high frequency of the so-called "moderate" common mutations, p.R261Q, p.V388M, and p.I65T, which are reported to be associated to erratic or more severe than expected metabolic phenotypes. Although our results of BH4 estimated responsiveness must be regarded as tentative, it should be emphasized that genotyping and genotype-phenotype association studies are important in selecting patients to be offered a BH4 overload test, especially in low-resource settings like Brazil.
- Health-Related Quality of Life in Pulmonary Hypertension and Its Clinical Correlates: A Cross-Sectional StudyPublication . Reis, A.; Santos, M.; Vicente, M.; Furtado, I.; Cruz, C.; Melo, A.; Carvalho, L.; Gonçalves, F.; Sa-Couto, P.; Almeida, L.BACKGROUND: Health-related quality of life (HRQoL) impairment is common in pulmonary hypertension (PH), but its clinical predictors are not well established. This study aims to characterize the HRQoL of patients with pulmonary arterial hypertension (PAH) and other precapillary forms of PH (pcPH) and to explore its clinical correlates. MATERIALS AND METHODS: A cross-sectional, observational study of patients with documented PAH and other forms of pcPH. Patients completed two patient-reported outcome measures (PROM): Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR) and Nottingham Health Profile (NHP). Clinical characteristics were retrieved from electronic medical records. RESULTS: Mean CAMPHOR and NHP scores for the study population were indicative of a moderate HRQoL impairment. Patients in World Health Organisation Functional Classes (WHO FC) III/IV showed significantly worse HRQoL. The main clinical correlates of HRQoL were WHO FC, 6-minute walking distance (6MWD), and Borg dyspnoea index. Overall quality of life (QoL), assessed through CAMPHOR's QoL domain, showed patterns comparable to HRQoL measured by both instruments. CONCLUSIONS: HRQoL, measured by two different PROMs, is impaired in Portuguese patients with PAH and other forms of pcPH, particularly in patients with increased disease severity. WHO FC, 6MWD, and Borg dyspnoea index are highly correlated with HRQoL and QoL.
- Interstitial lung disease and pre-capillary pulmonary hypertension in neurofibromatosis type 1Publication . Rodrigues, D.; Oliveira, H.; Andrade, C.; Carvalho, L.; Guimarães, S.; Moura, C.; Vaz, A.Although previously reported, the existence of a neurofibromatosis (NF)-associated diffuse lung disease (DLD) still lacks solid evidence. We report a case of a 68-year-old non-smoking female with NF1, pre-capillary pulmonary hypertension (PH) and an interstitial lung pattern. Initial findings included progressive dyspnea, hypoxemia and sparse centrilobular ground-glass micronodules on high-resolution computed tomography (HRCT). Further study demonstrated a severe defect in diffusing capacity for carbon monoxide (DLCO), macrophages on bronchoalveolar lavage and pre-capillary PH on right cardiac catheterization. Surgical biopsy revealed macrophage accumulation along bronchovascular bundles and alveolar spaces and type II pneumocytes hyperplasia. Given the absence of environmental exposure or new drugs, a NF-DLD was hypothesized. Pre-capillary PH was disproportionate to interstitial findings, so it was attributed to a NF1-vasculopathy. Treatment with triple sequential combined therapy was unsuccessful culminating in death 18 months later. This case adds HRCT and anatomopathological data suggesting NF-DLD as a distinct manifestation of the disease.
- As necessidades dos pais de crianças hospitalizadas na área metropolitana do PortoPublication . Neto, J.; Carvalho, L.
- Non-invasive ventilation in cardiogenic pulmonary edema in the emergency department.Publication . Carvalho, L.; Carneiro, R.; Freire, E.; Pinheiro, P.; Aragão, I.; Martins, A.Abstract Bilevel positive pressure (BiPAP) non-invasive ventilation (NIV) is frequently used in our emergency department (ED), as an adjuvant in the treatment of acute cardiogenic pulmonary edema (ACPE) to reduce the need for tracheal intubation (TI) in these patients. The purpose of our study was to evaluate the safety of NIV in patients with ACPE in our ED, used by a group of physicians outside the intensive care unit (ICU), by comparing our results with previously published results. We also wanted to identify possible additional advantages of NIV in the treatment of acpe. We recorded clinical and physiological data before and after NIV of all patients with diagnosis and treatment of ACPE in our ED and for whom NIV was ordered as adjuvant treatment, between July 2004 and February 28 2005. During this period, NIV was ordered in 17 patients with ACPE. The mean ventilation pressures used were p(INSP) 16.5 +/- 5 cm H2O and p(exp) 8.8 +/- 4 cm H2O. none of the patients refused NIV. In six patients NIV was not initiated immediately together with medical therapeutics. one patient required Ti and the other 16 (94%) improved after NIV. After the acpe episode had resolved, fourteen patients (82%) were eventually discharged from hospital whereas 3 (18%) died during hospitalization. We observed a statistically significant improvement after one hour of NIV in respiratory and pulse rate, arterial pH, PaCO2 and peripheral blood O2 saturation. Despite the small sample size, these results suggest that it is possible to use NIV in the treatment of ACPE outside the ICU, without increasing the risks of TI or decreasing efficacy. In these cases NIV probably accelerates clinical resolution and relieves symptoms.
- Portuguese validation of the Cambridge pulmonary hypertension outcome review (CAMPHOR) questionnairePublication . Reis, A.; Twiss, J.; Vicente, M.; Gonçalves, F.; Carvalho, L.; Meireles, J.; Melo, A.; McKenna, S.; Almeida, L.BACKGROUND: Patients with pulmonary arterial hypertension (PAH) and other forms of precapillary pulmonary hypertension (PH) have impaired quality of life (QoL). The Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR) is a PH-specific patient-reported outcome measure that assesses symptoms, activity limitations and QoL. It was originally developed in UK-English. The main objective of this study was to create an adaptation of the CAMPHOR suitable for a Portuguese-speaking population. METHODS: A multi-step approach was followed: bilingual and lay panel translation; cognitive debriefing interviews; and psychometric testing in repeated postal surveys (2 weeks apart) including assessment of internal consistency, reproducibility and validity. The Nottingham Health Profile (NHP) questionnaire was used as a comparator instrument to test convergent validity. RESULTS: The CAMPHOR was translated without difficulty by the two panels. Cognitive debriefing interviews showed the questionnaire was easily understood and considered relevant to patients' experience with their illness. Psychometric evaluation was performed with 50 PAH patients (47 ± 14 years, 37 women). Cronbach's alpha coefficients showed good internal consistency for the three CAMPHOR scales [Symptoms = 0.95; Activities = 0.93 and QoL = 0.94]. Test-retest coefficients showed that all scales had excellent reliability (Symptoms = 0.94; Activities = 0.89 and QoL = 0.93), indicating low levels of random measurement error. The CAMPHOR correlated as expected with the NHP. The magnitude of correlations followed a similar pattern to those in the original development study. The CAMPHOR also exhibited evidence of known group validity in its ability to distinguish between self-reported severity and general health groups. CONCLUSIONS: A valid and reliable version of the CAMPHOR questionnaire for the European Portuguese-speaking population was developed and is recommended for use.
- Pulmonary hypertension: Real-world data from a Portuguese expert referral centrePublication . Gomes, A.; Cruz, C.; Rocha, J.; Ricardo, M.; Vicente, M.; Melo, A.; Santos, M.; Carvalho, L.; Gonçalves, F.; Reis, A.Pulmonary hypertension (PH) is a heterogeneous, debilitating condition with highly relevant impact on functional capacity, quality of life, and life-expectancy.
- Stability of blood gases when refrigeratedPublication . Ferreira, J.; Silva, S.; Rodrigues, P.; Abreu, M.; Maia, J.; Carvalho, D.; Carvalho, L.Background: Blood gas analysis is a widely used procedure. In clinical practice, the physicians may not always have a blood gas analyzer in their proximity. Not infrequently, blood gas samples are stored in a fridge or on ice and read retrospectively. Continued anaerobic and aerobic metabolism in the blood may alter blood gases in the interval between drawing arterial blood and its analysis, which may cause a fall in the PaO2 and pH and a rise in the PaCO2. Methods: Two sets of arterial blood samples were obtained from hospitalized patients. After the initial analysis, one sample from each patient was put in raw ice within a specimen bag (0 to +1 oC) and the other in the fridge (+4 to +8 oC). These samples were submitted to serial analysis at 30 minutes, 1 hour and 2 hours after the initial analysis. Results: Two hundred arterial blood gas results from 25 patients were analysed. The mean values of PaO2, PaCO2, HCO3-, Na+, K+, Ca2+ and lactate at 0 minutes, 30 minutes, 1 hour and 2 hours were not signifi cantly different between the two alternatives of storage. However, within each group, signifi cant changes were found over time for PaO2, K+, Na+, Ca2+ and lactate. Conclusions: When using plastic syringes, arterial blood gas analysis should be processed shortly after collecting the sample. Despite the fact that low temperatures can slow down the metabolism, neither the ice nor the fridge preserved all the sample parameters.
- STAPHYLOCOCCUS AUREUS RESISTENTE À METICILINA E ABCESSO HEPÁTICO Análise Retrospectiva de 117 CasosPublication . Ferreira, J.; Abreu, M.; Rodrigues, P.; Carvalho, L.; Correia, J.Introdução: Os abcessos hepáticos constituem uma entidade clínica que coloca desafios no diagnóstico e tratamento, sendo em muito casos necessário um elevado índice de suspeição. A maioria dos abcessos hepáticos piogénicos são polimicrobianos. Os agentes entéricos facultativos e anaeróbios são os mais comuns. Na literatura revista, os abcessos hepáticos a Staphylococcus aureus constituem cerca de 7% dos abcessos hepáticos piogénicos. Esta infecção habitualmente resulta de disseminação hematogénea de microrganismos isolados em infecções à distância. Não existem séries publicadas sobre esta matéria, sendo que a informação disponível se restringe a case-reports. Objectivo e Métodos: Com o objectivo de aprofundar a fisiopatologia, diagnóstico e história natural dos abcessos hepáticos, nomeadamente por Staphylococcus Aureus resistente à meticilina (MRSA), realizou-se um estudo retrospectivo, fazendo a revisão do processo clínico dos doentes com o diagnóstico de abcesso hepático/piemia portal entre Janeiro de 2004 e Dezembro de 2009, num total de 117 doentes. Resultados: Clinicamente, a maior parte dos doentes tinha febre e dor abdominal. A esmagadora maioria dos doentes não dispensou TC abdominal no diagnóstico. Apenas 81,2% dos doentes realizaram algum tipo de colheita para microbiologia. O agente mais frequentemente isolado foi a Escherichia coli. O MRSA estava presente em 7,6% dos abcessos cujo pús foi processado. A terapêutica mais frequentemente seleccionada foi a drenagem percutânea associada a antibioterapia. Todos os MRSA isolados eram sensíveis ao trimetoprim-sulfametoxazol e vancomicina. O grupo de patologia subjacente mais frequentemente encontrada foi o das doenças das vias biliares, seguido dos pós-operatórios recentes. Na esmagadora maioria das infecções a MRSA, o grupo de patologia subjacente mais frequentemente encontrada foi o pós-operatório abdominal. A taxa de mortalidade global foi de 17,9%. No que respeita a abcessos a MRSA, faleceu 1 doente devido a complicações da doença de base. Conclusões: Estes dados confirmam que o MRSA é um patogénio importante em infecções hospitalares, incluindo as intra-abdominais. É de salientar a importância do pós-operatório abdominal como factor de risco para infecção por este agente, um dado pouco descrito na literatura revista. Estes achados acarretam implicações assinaláveis a nível terapêutico, investigacional e prognóstico.