Browsing by Issue Date, starting with "2014-11"
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- Rupture of expanded polytetrafluoroethylene neochordae used for mitral valve repair: does size matter?Publication . Antunes, MJ; Coutinho, GF
- Cardiovascular risk analysis by means of pulse morphology and clustering methodologiesPublication . Almeida, VG; Borba, J; Pereira, HC; Pereira, T; Correia, C; Pêgo, M; Cardoso, JThe purpose of this study was the development of a clustering methodology to deal with arterial pressure waveform (APW) parameters to be used in the cardiovascular risk assessment. One hundred sixteen subjects were monitored and divided into two groups. The first one (23 hypertensive subjects) was analyzed using APW and biochemical parameters, while the remaining 93 healthy subjects were only evaluated through APW parameters. The expectation maximization (EM) and k-means algorithms were used in the cluster analysis, and the risk scores (the Framingham Risk Score (FRS), the Systematic COronary Risk Evaluation (SCORE) project, the Assessing cardiovascular risk using Scottish Intercollegiate Guidelines Network (ASSIGN) and the PROspective Cardiovascular Münster (PROCAM)), commonly used in clinical practice were selected to the cluster risk validation. The result from the clustering risk analysis showed a very significant correlation with ASSIGN (r=0.582, p<0.01) and a significant correlation with FRS (r=0.458, p<0.05). The results from the comparison of both groups also allowed to identify the cluster with higher cardiovascular risk in the healthy group. These results give new insights to explore this methodology in future scoring trials.
- A decade of cardiac transplantation in Coimbra: the value of experiencePublication . Prieto, D; Correia, P; Batista, M; Sola, E; Franco, F; Costa, S; Antunes, PE; Antunes, MJINTRODUCTION AND OBJECTIVES: To analyze the experience gained in 10 years of the heart transplantation program of the University Hospital of Coimbra. METHODS: Between November 2003 and December 2013, 258 patients with a mean age of 53.0±12.7 years (3-72 years) and predominantly male (78%) were transplanted. Over a third of patients had ischemic (37.2%) and 36.4% idiopathic cardiomyopathy. The mean age of donors was 34.4±1.3 years and 195 were male (76%), with gender difference between donor and recipient in 32% of cases and ABO disparity (non-identical groups but compatible) in 18%. Harvest was distant in 59% of cases. In all cases total heart transplantation with bicaval anastomoses, modified at this center, was used. Mean ischemia time was 89.7±35.4 minutes. All patients received induction therapy. RESULTS: Early mortality was 4.7% (12 patients) from graft failure and stroke in five patients each, and hyperacute rejection in two. Thirteen patients (5%) required prolonged ventilation, 25 (11.8%) required inotropic support for more than 48 hours, and seven required pacemaker implantation. Mean hospital stay was 15.8±15.3 days (median 12 days). Ninety percent of patients were maintained on triple immunosuppressive therapy including cyclosporine, the remainder receiving tacrolimus. In 23 patients it was necessary to change the immunosuppression protocol due to renal and/or neoplastic complications and humoral rejection. All but two patients have been followed in the Surgical Center. Fifty patients (19.4%) subsequently died from infection (18), cancer (10), vascular (eight), neuropsychiatric (four), cardiac (two) or other causes (eight). Forty-six patients (17.8%) had episodes of cellular rejection (>2 R on the ISHLT classification), eight had humoral rejection (3.1%), and 22 have evidence of graft vascular disease (8.5%). Actuarial survival at 1, 5, and 8 years was 87±2%, 78±3% and 69±4%, respectively. CONCLUSION: This 10-year series yielded results equivalent or superior to those of centers with wider and longer experience, and have progressively improved following the introduction of changes prompted by experience. This program has made it possible to raise and maintain the rate of heart transplantation to values above the European average.
- Pro-inflammatory triggers in childhood obesity: correlation between leptin, adiponectin and high-sensitivity C-reactive protein in a group of obese Portuguese childrenPublication . Pires, A; Martins, P; Pereira, AM; Marinho, J; Vaz Silva, P; Marques, M; Castela, E; Sena, C; Seiça, RINTRODUCTION: Pediatric obesity is increasingly prevalent in the Portuguese population. Adipocyte dysfunction results in the expression of pro-inflammatory mediators that are responsible for the low-grade inflammatory process that characterizes obesity. OBJECTIVES: The aim of this study was to investigate the relationship between markers of adiposity, inflammation and adipokines in a Portuguese obese pediatric population. METHODS: One hundred and twenty children of both sexes, aged 6-17 years, were included in this study. The control group consisted of 41 healthy normal-weight children. The variables analyzed were age, gender, body mass index, waist circumference, fat mass percentage, high-sensitivity C-reactive protein (hs-CRP), leptin and adiponectin. RESULTS: There were significant differences between controls and obese children for all parameters analyzed. In the obese group, after controlling for age and gender, hs-CRP (p=0.041), adiponectin (p=0.019) and leptin (p<0.001) still showed significant statistical differences. A direct correlation was found between hs-CRP, leptin, body mass index and waist circumference, the strongest being with leptin (r=0.568; p<0.001). This trend remained statistically significant, regardless of gender or pubertal age. CONCLUSIONS: Considering the role of leptin, adiponectin and hs-CRP in the genesis of endothelial dysfunction, they may be used in clinical practice for risk stratification, as well as in the assessment of weight control programs.
- Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromePublication . Thomas, AC; Williams, H; Setó-Salvia, N; Bacchelli, C; Jenkins, D; O'Sullivan, M; Mengrelis, K; Ishida, M; Ocaka, L; Chanudet, E; James, C; Lescai, F; Anderson, G; Morrogh, D; Ryten, M; Duncan, AJ; Pai, YJ; Saraiva, JM; Ramos, F; Farren, B; Saunders, D; Vernay, B; Gissen, P; Straatmaan-Iwanowska, A; Baas, F; Wood, NW; Hersheson, J; Houlden, H; Hurst, J; Scott, R; Bitner-Glindzicz, M; Moore, GE; Sousa, SB; Stanier, PIntellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected individuals from three unrelated consanguineous families who presented with recessively inherited moderate-severe intellectual disability, cerebellar ataxia, early-onset cerebellar atrophy, sensorineural hearing loss, and the distinctive association of progressively coarsening facial features, relative macrocephaly, and the absence of seizures. We used homozygosity mapping and whole-exome sequencing to identify a homozygous nonsense mutation and an in-frame multiexon deletion in two families. A homozygous splice site mutation was identified by Sanger sequencing of SNX14 in a third family, selected purely by phenotypic similarity. This discovery confirms that these characteristic features represent a distinct and recognizable syndrome. SNX14 encodes a cellular protein containing Phox (PX) and regulator of G protein signaling (RGS) domains. Weighted gene coexpression network analysis predicts that SNX14 is highly coexpressed with genes involved in cellular protein metabolism and vesicle-mediated transport. All three mutations either directly affected the PX domain or diminished SNX14 levels, implicating a loss of normal cellular function. This manifested as increased cytoplasmic vacuolation as observed in cultured fibroblasts. Our findings indicate an essential role for SNX14 in neural development and function, particularly in development and maturation of the cerebellum.
- Rare cardiac tumor simulating ST elevated acute myocardial infarctionPublication . Marmelo, B; Moreira, D; Delgado, A; Abreu, L; Correia, E; Correia, M; Ferreira, P; Marinho da Silva, A; Santos, JO