Browsing by Author "Sá, M."
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- Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid LevelsPublication . Sá, M.; Rocha, J.; Almeida, M.; Carmona, C.; Martins, E.; Miranda, V.; Coutinho, M.; Ferreira, R.; Pacheco, S.; Laranjeira, F.; Ribeiro, I.; Fortuna, A.; Lacerda, L.Infantile Refsum disease (IRD) is one of the less severe of Zellweger spectrum disorders (ZSDs), a group of peroxisomal biogenesis disorders resulting from a generalized peroxisomal function impairment. Increased plasma levels of very long chain fatty acids (VLCFA) and phytanic acid are biomarkers used in IRD diagnosis. Furthermore, an increased plasma level of phytanic acid is known to be associated with neurologic damage. Treatment of IRD is symptomatic and multidisciplinary.The authors report a 3-year-old child, born from consanguineous parents, who presented with developmental delay, retinitis pigmentosa, sensorineural deafness and craniofacial dysmorphisms. While the relative level of plasma C26:0 was slightly increased, other VLCFA were normal. Thus, a detailed characterization of the phenotype was essential to point to a ZSD. Repeatedly increased levels of plasma VLCFA, along with phytanic acid and pristanic acid, deficient dihydroxyacetone phosphate acyltransferase activity in fibroblasts and identification of the homozygous pathogenic mutation c.2528G>A (p.Gly843Asp) in the PEX1 gene, confirmed this diagnosis. Nutritional advice and follow-up was proposed aiming phytanic acid dietary intake reduction. During dietary treatment, plasma levels of phytanic acid decreased to normal, and the patient's development evaluation showed slow progressive acquisition of new competences.This case report highlights the relevance of considering a ZSD in any child with developmental delay who manifests hearing and visual impairment and of performing a systematic biochemical investigation, when plasma VLCFA are mildly increased. During dietary intervention, a biochemical improvement was observed, and the long-term clinical effect of this approach needs to be evaluated.
- Infeções sexualmente transmissíveis e factores de risco nas adolescentes e jovens: Dados de um Centro de Atendimento a JovensPublication . Sá, M.; Silva, M.; Almeida, D.; Vieira, B.; Lima, T.; Conde, C.; Teixeira, M.; Lima, J.; Oliveira, T.Introdução: As infeções sexualmente transmissíveis (ISTs) têm alta prevalência nas adolescentes e jovens, estando associadas a morbilidade significativa. Objectivos: Determinar a prevalência de ISTs numa amostra de jovens e avaliar os factores que se associam a aumento do risco de ISTs. Material e Métodos: Estudo transversal que incluiu 100 jovens do sexo feminino abaixo de 27 anos, divididas em dois subgrupos: assintomáticas e com sintomas ginecológicos. Foram colhidas variáveis demográficas e clínicas, realizado exame ginecológico com colheita de exsudado cervico-vaginal para pesquisa de Trichomonas vaginalis, Chlamydia trachomatis e Neisseria gonorrhoeae, e realizadas serologias das Hepatites B e C, Vírus da Imunodeficiência Humana, Sífilis e Herpes simplex tipo2. As associações significativas entre variáveis (p<0.05) foram identificadas através do teste qui-quadrado. Resultados: Encontrou-se evidência de pelo menos uma IST em 16% da amostra. Os resultados foram:Trichomonas em 1%, Chlamydia em 7%, Neisseria em 1%, Sífilis em 1% e Herpes simplex tipo2 em 12%. O número de parceiros sexuais superior a 5 e a ectopia cervical associaram-se a aumento de risco de evidência laboratorial de pelo menos uma IST (p=0.009 e p=0.006 respectivamente). Conclusões: A prevalência de ISTs encontrada justifica o investimento continuado na educação das jovens no sentido do adiamento do início da actividade sexual e do uso consistente do método de barreira. Os profissionais de saúde que contactam com este grupo etário, devem ter em conta a importância do rastreio das ISTs e do seu tratamento, de modo a prevenir as suas complicações tardias.
- 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.
- Pregnancy after uterine artery embolization: a case report in a woman with leiomyomataPublication . Lopes, H.; Sá, M.; Rodrigues, R.Background. Several pregnancies have been reported after embolization of uterine artery. This procedure is an accepted nonsurgical treatment for symptomatic uterine fibroids but its safety in women desiring future childbearing is not well established. Case Report. We present a 40-year-old woman with leiomyomata who became pregnant after previously undergone uterine artery embolization for three times. The placenta was previa and the fetus was in transverse position. She had a cesarean delivery of an appropriately grown fetus at 37 weeks, which was followed by uterine atony requiring hysterectomy. Conclusion. Although pregnancy-related outcomes remain understudied, the available reports evidence that pregnancies after uterine artery embolization may be at significantly increased risk for postpartum hemorrhage, cesarean delivery, abnormal placentation, and malpresentation. In patients who are undergoing this type of treatment and contemplating pregnancy, the possibility of adverse complications should be taken in consideration and women should be appropriately advised.
- 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.
- The efficacy and safety of natalizumab for the treatment of multiple sclerosis in Portugal: a retrospective studyPublication . Sousa, L.; Sá, J.; Sá, M.; Cerqueira, J.; Martins-Silva, A.INTRODUCTION. Studies have shown that natalizumab is an effective treatment for relapsing-remitting multiple sclerosis (RRMS). To date, no data are available in Portuguese patients. AIM. To determine the efficacy and safety of natalizumab in patients with RRMS in routine clinical practice in Portugal. PATIENTS AND METHODS. Clinical data for adult patients with RRMS treated with natalizumab at specialist neurology centres in Portugal were entered retrospectively into a database for analysis between October 2010 and February 2012. Changes in annualized relapse rates (ARR), Expanded Disability Status Scale (EDSS) scores and disability status were analysed. RESULTS. A total of 383 patients from 20 centres were included. Prior to starting natalizumab, the baseline median EDSS score was 4 and the mean ARR was 1.64. Most patients had previously received multiple sclerosis treatment (93.0%). Median natalizumab treatment duration was 12 months. Natalizumab treatment was associated with significant (p < 0.001) reductions from baseline in the mean ARR and EDSS scores in patients treated with natalizumab for >= 12 months (n = 288) and for >= 24 months (n = 160). Natalizumab was more effective in patients with less disability (EDSS < 3) and in those who had not previously received disease-modifying treatments. Two cases of progressive multifocal leukoencephalopathy were reported. No new unexpected adverse events occurred. CONCLUSION. Natalizumab is well tolerated, and is effective in reducing relapse rate and stabilising disease in patients with RRMS in the clinical practice setting in Portugal. Its efficacy persists with continued treatment, and it may be particularly effective in patients with less disability and without prior disease modifying therapy.
- Vasculite de hipersensibilidade após terapêutica com metilfenidato - Caso clínicoPublication . Sá, M.; Faria, C.; Alves, M.; Macedo, L.; Carvalho, S.Introdução: Vasculite de hipersensibilidade é um processo inflamatório dos pequenos vasos secundário à formação e deposição endotelial de imunocomplexos. Caso Clínico: Descreve-se um caso de uma adolescente de 15 anos, recentemente medicada com metilfenidato por perturbação de hiperatividade e défice de atenção que apresentou episódios recorrentes de dor a nível dos pés associada a lesões purpúricas da extremidade de todos os dedos dos pés. O estudo histopatológico das lesões demonstrou alterações compatíveis com vasculite linfocítica. Discussão: Os achados clínicos e histopatológicos associados à relação temporal entre a instituição do tratamento com metilfenidato e o início dos sintomas, tal como à resolução clínica após a suspensão do fármaco, permitiram