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In this study we aimed to evaluate the relationship between individual total exposure to air pollution (AP) and airways changes in a group of 51 wheezing children. Respiratory status was assessed four times (January 2006, June 2006, January 2007, June 2007) during one week, through a standardized questionnaire, spirometry, FeNO and pH in EBC. Concentrations of PM10, O3, NO2 and volatile organic compounds were estimated through direct measurements with an ad hoc device or AP modelling in the children's schools and at their homes in the same 4 weeks of the study. For each child, total exposure to the different air pollutants was estimated as a function of pollutants concentrations and daily activity patterns. Increasing total exposure to PM10, NO2, benzene, toluene and ethylbenzene was associated significantly with a decrease of FEV1 and...
We present the irnmunohistochernical study of 11 cases of intracranial cysts: two extraventricular ependymal cysts, three colloid cysts of the third ventricle, four extraventricular choroidal cysts and two Rathke's cleft cysts. Antibodies against glial fibrillary acidic protein (GFAP), cytokeratins (AE1, CKSD, AE3), S-100 protein, epithelial membrane antigen (EMA), vimentin, neuron specific enolase (NSE), neurofilaments protein (NF) and prealbumin, were used. The epithelium of choroidal cysts, showed strong immunoreactivity for Prealbumin and cytokeratins, similar to the normal choroid plexus epithelium. The ependymal cysts showed epithelial immunoreactivity for GFAP and S-100, both glial markers expressed by the normal ependymal epithelium. On the contrary, the epithelial wall of colloid cysts and Rathke's cleft cyst, e...
Encontram -se publicados múltiplos trabalhos sobre o papel das determinações do óxido nítrico no ar exalado (FENO) no âmbito do estudo da inflamação brônquica que nos permitem afirmar que se trata duma medição simples, não invasiva e de grande utilidade na avaliação do doente asmático.No decurso de um estudo prospectivo sobre o impacto da poluição do ar sobre a saúde da população na cidade de Viseu (Projecto Saud’AR), foram identificadas crianças com história clínica de sibilância, mediante a aplicação de questionários do International Study of Asthma and Allergy in Childhood (ISAAC). As crianças foram submetidas posteriormente a um questionário padronizado, testes cutâneos prick para aeroalergénios, espirometria com prova de broncodilatação e medição de FENO. A idade média era de 7,8±1,1 anos. Comparando os doentes com queixas de si...
Introdução: A asma é uma doença respiratória crónica, cujo agravamento pode estar associado a factores ambientais, entre os quais os relacionados com a qualidade do ar. Objectivo: O presente trabalho pretendeu avaliar o efeito da exposição individual a poluentes atmosféricos em termos de função respiratória, num grupo de crianças com história de sibilância, entrando em consideração com o grau de infestação de ácaros do pó doméstico. Métodos: Um grupo de 51 crianças com história de sibilância, seleccionadas através do questionário do estudo ISAAC, foi acompanhado prospectivamente num estudo com medidas repetidas, que envolveu avaliações médicas padronizadas que incluíram a realização de espirometria, avaliação da exposição aos ácaros do pó e cálculo do valor de exposição individual a uma variedade de poluentes do ar: PM10, O3, NO2, ...
Introducción: La Hipercolesterolemia Familiar (HF), de herencia codominante, lleva a la EC temprana debido a los niveles elevados de lipoproteínas de baja densidad (LDL) plasmáticas presentes desde el nacimiento. Funcionalmente el aclaramiento hepático de las LDL se ve disminuído. Se origina por mutaciones en los genes LDLR (94%), APOB (4%), PCSK9 (1%) generalmente y hay más de 1000 variantes patogénicas solo en el LDLR. Los países de iberoamerica (IBA) comparten orígenes y el estudio conjunto de las bases moleculares contribuirá al esclarecimiento de la relación fenotipo / genotipo y mejorará la prognosis de los pacientes, uno de los objetivos de la Red. En IBA se estiman 3 millones de HF que, detectados en forma temprana, podría prevenirse en ellos la EC.
The Iberoamerican Familial Hypercholesterolemia network (IBAFH_N) was created in 2013 to promote awareness for Familial Hypercholesterolemia (FH) in these countries – Argentina, Brazil, Chile, Mexico, Portugal, Spain, Uruguay and more recently Colombia – that share a past and history. The aim of this work was to perform a molecular analysis of FH mutations in Iberoamerica.
Familial hypercholesterolaemia is common in individuals who had a myocardial infarction at a young age. As many as one in 200 people could have heterozygous familial hypercholesterolaemia, and up to one in 300 000 individuals could be homozygous. The phenotypes of heterozygous and homozygous familial hypercholesterolaemia overlap considerably; the response to treatment is also heterogeneous. In this Review, we aim to define a phenotype for severe familial hypercholesterolaemia and identify people at highest risk for cardiovascular disease, based on the concentration of LDL cholesterol in blood and individuals' responsiveness to conventional lipid-lowering treatment. We assess the importance of molecular characterisation and define the role of other cardiovascular risk factors and advanced subclinical coronary atherosclerosis in risk st...