Estudo do perfil bioquímico da população hemodialisada diabética da Região da Madeira

A Diabetes Mellitus, em especial a do tipo 2, é uma das causas mais frequentes na insuficiência  renal crónica, e uma das diversas complicações que podem ocorrer num individuo diabético é a  nefropatia diabética. A nefropatia diabética é uma doença que se caracteriza pela falência renal  e leva a que alguns dos pacientes com esta doença tenham de realizar o tratamento de  hemodiálise. O objectivo principal deste estudo foi a caracterização do perfil bioquímico da  população hemodialisada diabética e não diabética. Realizou‐se um estudo retrospectivo a  doentes que realizaram hemodiálise, no período de Novembro de 2004 a Julho de 2005, na  Unidade de Hemodiálise do Hospital dos Marmeleiros do Centro Hospitalar do Funchal e na  Nefromar, Unidade de Hemodiálise da Clínica de Santa Catarina.  Este estudo envolveu uma amostragem de 267, em que 115 eram hemodialisados com os  níveis da glicose inferiores a 150 mg/dl, constituindo o GTND, 60 eram hemodialisados com  níveis  de  glicose  iguais  ou  superiores  a  150  mg/dl,  constituindo  o  GTD  e,  finalmente,  os  restantes  92  indivíduos  saudáveis  e  que  não  realizam  hemodiálise,  o  GC.  Os  parâmetros  analisados foram a creatinina, a ureia, a glicose, as proteínas totais, a albumina, o colesterol, o  HDL‐c, LDL‐c e triglicerídeos, o sódio, o potássio e o cloro.  A análise dos parâmetros bioquímicos revelou uma maior frequência de hemodialisados no  sexo masculino, com idades superiores aos sessenta anos, o que está de acordo com estudos  efectuados anteriormente.  Os resultados mostraram que os parâmetros creatinina e ureia, são os que apresentam mais  alterações  nos  doentes  hemodialisados,  devido  terem  sido  determinados  em  pré‐diálise.  Verificou‐se que os níveis colesterol total, de LDL‐c e os triglicerídeos são mais elevados nos  grupos teste, em especial no GTD.   Das análises de correlações verificou‐se haver uma relação entre a glicose e os níveis elevados  de colesterol, LDL‐c e triglicerídeos e também com os níveis baixos de HDL‐c.Os restantes  parâmetros analisados com a excepção da glicose, não mostraram diferenças significativas  entre os grupos em estudo 

Risco cardiovascular em profissionais de saúde

Enquadramento: As doenças cardiovasculares são a principal causa de morte, cuja etiologia surge da conjugação de fatores de risco, causando uma patogenia complexa. Objetivos: identificar quais os fatores de risco, em presença, nos profissionais de saúde do Centro Hospitalar Tondela-Viseu; analisar a relação das variáveis sociodemográficas (sexo e idade) com o risco cardiovascular. Métodos: Estudo quantitativo e não experimental, transversal, descritivo e correlacional. Recorreu-se ao Questionário de Nível de Risco Cardiovascular (QNRC) (Cunha & Macário, 2012). A amostragem é não probabilística por conveniência, constituída por 1000 profissionais de saúde do Centro Hospitalar Tondela-Viseu. Resultados: Amostra maioritariamente feminina (71.3%), na faixa etária dos 36-45 anos (35.8%), a exercerem em serviços médicos (40.1%), destacando-se os enfermeiros (42.7%). Quanto à presença de fatores de risco cardiovascular, 5.2% são hipertensos; 3.5% são obesos; 1.6% sofrem de doença cardíaca; 1.6% sofrem de diabetes mellitus; verificou-se a presença de história familiar de hipertensão arterial (40.6%), obesidade (7.8%), doença cardíaca (15.9%), diabetes mellitus (23.4%); 69.9% apresentavam pressão arterial normal; 37.3% relataram hábitos tabágicos; 80.7% não apresentavam situação sem riso em relação aos triglicerídeos, mas em 19.3% esse estava presente; 61.9% não revelaram risco no parâmetro colesterol total, contudo, 38.1% patenteavam; 88.8% não apresentam risco quanto ao colesterol HDL, porém, 11.2% enquadravam-se no grupo de risco face ao colesterol HDL; 64.0% não apresentam valores de colesterol LDL considerados de risco, todavia, 36.0% revelaram valores de colesterol LDL considerados de risco. Conclusão: Os resultados apontam para a realização de sessões de esclarecimento na promoção da saúde e prevenção das doenças cardiovasculares para profissionais de saúde. Palavras-chave: Fatores de Risco Cardiovascular; Profissionais de Saúde.

Qualidade de vida dos indivíduos com patologia cardíaca : impacto de um programa de reabilitação

Introdução: A doença cardiovascular é uma das principais causas de incapacidade e diminuição da qualidade de vida. O grande investimento na atuação preventiva ou de reabilitação impõe um apelo especial à conjugação de esforços por parte de todos os interlocutores. Neste contexto, o objetivo do presente estudo centrou-se em avaliar o impacto de um Programa de Reabilitação na qualidade de vida e outros indicadores de saúde em indivíduos que possuam doença cardíaca, analisando a influência das variáveis sociodemográficas, antropométricas, clínicas, de qualidade de vida e de atividade física. Método: Recorrendo a um estudo de natureza quantitativa, do tipo prospetivo com características pré-experimentais, inquirimos 48 indivíduos portadores de patologia cardíaca, na sua maioria do género masculino (75%), com idades compreendidas entre os 26 e 87 anos (M= 57.90; Dp= 12.23), casados (81.2%), reformados (45,8%), com fatores de risco cardiovascular (87.5%), que se encontram com algum grau de limitação física para atividades quotidianas. O protocolo de pesquisa inclui, além de uma ficha sociodemográfica e clínica, instrumentos de medida aferidos e validados para a população portuguesa (Qualidade de Vida e Índice de Atividade Física), os quais foram aplicados antes e após a Fase II do Programa de Reabilitação Cardíaca, Resultados: Após implementação do Programa de Reabilitação Cardíaca, os resultados evidenciam uma melhoria estatisticamente significativa nos dados antropométricos (peso, IMC e PA), nas características analíticas (CT, LDL, TG, HDL e glicemia), nos dados hemodinâmicos (PAS, PAD, FE%), na prova de esforço (METs e %FC) e ainda na qualidade de vida (nos seus domínios emocional, físico, social e global) e no índice de atividade física (vigorosa, moderada, caminhada, METs e tempo sentado). Conclusão: A evidência dos resultados obtidos dá corpo à importância duma abordagem multidisciplinar nos programas de reabilitação cardíaca, realçando a necessidade de aumentar a taxa de referenciação para os centros existentes e a necessidade de criar novos centros, de forma a se poderem proporcionar cuidados considerados essenciais na recuperação pós-evento agudo e na prevenção da doença cardiovascular e cardíaca em geral. Palavras-Chave: Reabilitação Cardíaca; Qualidade de Vida; Fatores de Risco Cardiovascular.

Iron gene expression profile in atherogenic Mox macrophages

The role of macrophage iron in the physiopathology of atherosclerosis is an open question that needs to be clarified. In atherosclerotic lesions, recruited macrophages are submitted to cytokines and oxidized lipids which influence their phenotype. An important phenotypic population driven by oxidized phospholipids is the Mox macrophages which present unique biological properties but their iron phenotype is not well described.

Looks Like FH But it’s not FH: Extended Lipid Profile of Paediatric Clinical FH Patients Reveals a Different Lipid Profile in FH Negative Patients

Aim: Familial Hypercholesterolemia (FH) is a common autosomal dominant disorder, caused by mutations in genes involved in cholesterol’s clearance (LDLR, APOB, PCSK 9). Clinical diagnosis is usually based on high total cholesterol or LDL-C levels and family history of premature coronary heart disease. Using an extended lipid profile of paediatric dyslipidemic patients, we aim to identify biomarkers for a better diagnosis of FH in clinical settings.

Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patients

Aims: Mutations in the LDLR gene are the major cause of familial hypercholesterolaemia (FH), which results in defective catabolism of LDL leading to premature coronary heart disease. Presently, more than 1700 different mutations in the LDLR gene have been described as causing FH but the majority of them remain without functional characterization. In the Portuguese Familial Hypercholesterolemia Study (PFHS), 123 LDLR alterations were found in 243 index patients and their relatives up to date. Until now, 70 of these alterations already have a final classification of pathogenic and 15 have been proved by in vitro studies to be non-pathogenic. The aim of the present work is to functionally characterize 16 LDLR missense alterations found in Portuguese FH patients and worldwide.

Network Analyis Approach to Find New Candidate Genes and Pathways Involved in the Pathophysiology of Familial Hypercholesterolemia

Introduction: Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD) due to lifelong elevated plasma low-density lipoprotein (LDL) levels. Worldwide only 40 % of patients (FH+) with a clinical diagnosis of FH carry a mutation in any of the three genes (namely: LDLR, APOB, PCSK 9) that are currently known to be associated to the disease. We guess that the remaining 60 % of the patients (FH-) probably includes a high percentage of individuals with a polygenic form of dyslipidemia or an environmental form of hypercholesterolemia and a small percentage of individuals with mutations in some novel genes, never associated before with dyslipidemias. Here we present the preliminary results of an integrative approach intended to identify new candidate genes and to dissect pathways that can be dysregulated in the disease.

Using percentiles to diagnose familial hypercholesterolemia in Portugal

Aims: Familial hypercholesterolemia (FH) is a genetic disorder of lipid metabolism, clinically characterised by high levels of low-density lipoprotein cholesterol (LDL-C) that leads to cholesterol accumulation in tendons and arteries, premature atherosclerosis and increased risk of premature coronary heart disease. In 1999, the Portuguese FH Study was established at the National Institute of Health to identify the genetic cause of hypercholesterolemia in individuals with a clinical diagnosis of FH and to perform an epidemiologic study to determine the prevalence and distribution of FH in Portugal. In the last 16 years, a genetic defect was identified in 749 patients, representing 3. 7 % of the cases estimated to exist in Portugal. Index patients were included in this study using the Simon Broome (SB) criteria. However, there are different FH clinical criteria to diagnose index cases. Since there are no clinical criteria to identify relatives with FH, the aim of this work was to investigate if a diagnostic tool based on population specific 95 th percentile improves the clinical identification of Portuguese FH patients comparing with SB criteria.

Doença cardiovascular: contribuição do Vascepa®, medicamento de origem marinha, no combate à hipertrigliceridemia

Dissertação para obtenção do grau de Mestre no Instituto Superior de Ciências da Saúde Egas Moniz

Terapêutica antiretroviral e metabolismo lipídico

Dissertação para obtenção do grau de Mestre no Instituto Superior de Ciências da Saúde Egas Moniz

Rapid Communication: Cholesterol deficiency-associated APOB mutation impacts lipid metabolism in Holstein calves and breeding bulls.

During the last months, the number of reports on Holstein calves suffering from incurable idiopathic diarrhea dramatically increased. Affected calves showed severe hypocholesterolemia and mostly died within days up to a few months after birth. This new autosomal monogenic recessive inherited fat metabolism disorder, termed cholesterol deficiency (CD), is caused by a loss of function mutation of the bovine gene. The objective of the present study was to investigate specific components of lipid metabolism in 6 homozygous for the mutation (CDS) and 6 normal Holstein calves with different genotypes. Independent of sex, CDS had significantly lower plasma concentrations of total cholesterol (TC), free cholesterol (FC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), very-low-density lipoprotein cholesterol (VLDL-C), triacylglycerides (TAG), and phospholipids (PL) compared with homozygous wild-type calves ( < 0.05). Furthermore, we studied the effect of the genotype on cholesterol metabolism in adult Holstein breeding bulls of Swissgenetics. Among a total of 254 adult males, the homozygous mutant genotype was absent, 36 bulls were heterozygous carriers (CDC), and 218 bulls were homozygous wild-type (CDF). In CDC bulls, plasma concentrations of TC, FC, HDL-C, LDL-C, VLDL-C, TAG, and PL were lower compared with CDF bulls ( < 0.05). The ratios of FC:cholesteryl esters (CE) and FC:TC were higher in CDC bulls compared with CDF bulls, whereas the ratio of CE:TC was lower in CDC bulls compared with CDF bulls ( < 0.01). In conclusion, the CD-associated mutation was shown to affect lipid metabolism in affected Holstein calves and adult breeding bulls. Besides cholesterol, the concentrations of PL, TAG, and lipoproteins also were distinctly reduced in homozygous and heterozygous carriers of the mutation. Beyond malabsorption of dietary lipids, deleterious effects of apolipoprotein B deficiency on hepatic lipid metabolism, steroid biosynthesis, and cell membrane function can be expected, which may result in unspecific symptoms of reduced fertility, growth, and health.

A case in variant in cow's milk is atherogenic

Casein is a major protein in cow's milk that occurs in several variant forms, two of which are beta-casein A(1) and beta-casein A(2). The levels of these two proteins vary considerably in milk dependent on the breed of cow, and epidemiology studies suggest that there is a relationship between their consumption and the degree of atherosclerosis. In the present study, the direct effect of consumption of beta-casein A(1) vs beta-casein A(2) on atherosclerosis development was examined in a rabbit model. Sixty rabbits had their right carotid artery balloon de-endothelialised at t = 0, divided randomly into 10 groups (n = 6 per group), then for 6 weeks fed a diet containing 0, 5, 10 or 20% casein isolate, either beta-casein variant A(1) or A(2) made up to 20% milk protein with whey. Some groups had their diets supplemented with 0.5% cholesterol. Blood samples were collected at t = 0, 3 and 6 weeks and rabbits were sacrificed at t = 6 weeks. In the absence of dietary cholesterol, beta-casein A(1) produced significantly higher (P < 0.05) serum cholesterol, LDL, HDL and triglyceride levels than whey diet alone, which in turn produced higher levels than beta-casein A(2). Rabbits fed beta-casein A(1) had a higher percent surface area of aorta covered by fatty streaks than those fed beta-casein A(2) (5.2+/-0.81 vs 1.1+/-0.39, P < 0.05) and the thickness of the fatty streak lesions in the aortic arch was significantly higher (0.04+/-0.010 vs 0.00, P < 0.05). Similarly, the intima to media ratio (I:M) of the balloon injured carotid arteries in A(1) fed animals (0.77+/-0.07) was higher than in those that consumed A(2) (0.57+/-0.04) or whey (0.58+/-0.04), but this did not reach significance. In the presence of 0.5% dietary cholesterol, the thickness of the aortic arch lesions was higher (P < 0.05) in 5, 10 and 20% casein A(1) fed animals compared with their A(2) counterparts, while other parameters were not significantly different. It is concluded that beta-casein A(1)is atherogenic compared with beta-casein A(2). (C) 2003 Elsevier Science Ireland Ltd. All rights reserved.

Emerging roles of urotensin-II in cardiovascular disease

Urotensin-II (UII) is a highly potent endogenous peptide within the cardiovascular system. Through stimulation of Galphaq-coupled UT receptors, UII mediates contraction of vascular smooth muscle and endothelial-dependent vasorelaxation, and positive inotropy in human right atrium and ventricle. A pathogenic role of the UT receptor system is emerging in cardiovascular disease states, with evidence for upregulation of the UT receptor system in patients with congestive heart failure (CHF), pulmonary hypertension, cirrhosis and portal hypertension, and chronic renal failure. In vitro and in vivo studies show that under pathophysiological conditions, UII might contribute to cardiomyocyte hypertrophy, extracellular matrix production, enhanced vasoconstriction, vascular smooth muscle cell hyperplasia, and endothelial cell hyper-permeability. Single nucleotide polymorphisms of the UII gene may also impart a genetic predisposition of patients to diabetes. Therefore, the UT receptor system is a potential therapeutic target in the treatment of cardiac, pulmonary, and renal diseases. UT receptor antagonists are currently being developed to prevent and/or reverse the effects of over-activated UT receptors by the endogenous ligand. This review describes UII peptide and converting enzymes, and UT receptors in the cardiovascular system, focusing on pathophysiological roles of UII in the heart and blood vessels. (C) 2004 Elsevier Inc. All rights reserved,

Endurance exercise, plasma oxidation and cardiovascular risk

Objective-Although physical activity is beneficial to health, people who exercise at high intensities throughout their lifetime may have increased cardiovascular risk. Aerobic exercise increases oxidative stress and may contribute to atherogenesis by augmented oxidation of plasma lipoproteins. The aim of this study was to examine the relationship between aerobic power and markers of oxidative stress, including the susceptibility of plasma to oxidation. Methods and results-Aerobic power was measured in 24 healthy men aged 29 9 years (mean +/- SD). Plasma was analysed from subjects of high aerobic power (HAP; VO(2)max, 64.6 +/- 6.1 ml/kg/min) and lower aerobic power (LAP;VO(2)max, 45.1 +/- 6.3 ml/kg/min) for total antioxidant capacity (TAC), malondialdehyde (MDA) and susceptibility to oxidation. Three measures were used to quantify plasma oxidizability: (1) lag time to conjugated diene formation (lag time); (2) change in absorbance at 234 nm and; (3) slope of the oxidation curve during propagation (slope). The HAP subjects had significantly lowerTAC (1.38 +/- 0.04 versus 1.42 +/- 0.06 TEAC units; P < 0.05), significantly higher change in absorbance (1.55 +/- 0.21 versus 1.36 +/- 0.17 arbitrary units; P < 0.05), but no difference in MDA (P = 0.6), compared to LAP subjects. There was a significant inverse association between TAC and slope (r = -0.49; P < 0.05). Lipoprotein profiles and daily intake of nutrients did not differ between the groups. Conclusions-These findings suggest that people with high aerobic power, due to extreme endurance exercise, have plasma with decreased antioxidant capacity and higher susceptibility to oxidation, which may increase their cardiovascular risk.

The effect of the dietary supplement, Chitosan, on body weight: a randomised controlled trial in 250 overweight and obese adults

CONTEXT: Chitosan, a deacetylated chitin, is a widely available dietary supplement purported to decrease body weight and serum lipids through gastrointestinal fat binding. Although evaluated in a number of trials, its efficacy remains in dispute. OBJECTIVE: To evaluate the efficacy of chitosan for weight loss in overweight and obese adults. DESIGN AND SETTING: A 24-week randomised, double-blind, placebo-controlled trial, conducted at the University of Auckland between November 2001 and December 2002. PARTICIPANTS: A total of 250 participants (82% women; mean (s.d.) body mass index, 35.5 (5.1) kg/m(2); mean age, 48 (12) y). INTERVENTIONS: Participants were randomly assigned to receive 3 g chitosan/day (n = 125) or placebo (n = 125). All participants received standardised dietary and lifestyle advice for weight loss. Adherence was monitored by capsule counts. MAIN OUTCOME MEASURES: The primary outcome measure was change in body weight. Secondary outcomes included changes in body mass index, waist circumference, body fat percentage, blood pressure, serum lipids, plasma glucose, fat-soluble vitamins, faecal fat, and health-related quality of life. RESULTS: In an intention-to-treat analysis with the last observation carried forward, the chitosan group lost more body weight than the placebo group (mean (s.e.), -0.4 (0.2) kg (0.4% loss) vs +0.2 (0.2) kg (0.2% gain), P = 0.03) during the 24-week intervention, but effects were small. Similar small changes occurred in circulating total and LDL cholesterol, and glucose (P < 0.01). There were no significant differences between groups for any of the other measured outcomes. CONCLUSION: In this 24-week trial, chitosan treatment did not result in a clinically significant loss of body weight compared with placebo.