Browsing by Author "Azevedo, S."
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- Construction of a New Familial Hypercholesterolemia Variant Data Base. A Systematic Review for a 2015 UpdatePublication . Azevedo, S.; Chora, J.R; Alves, A.C; Medeiros, A.M.; Bourbon, MafaldaAims: Familial hypercholesterolemia (FH) is an autosomal dominant disorder with increased cardiovascular risk, caused by mutations in LDLR, APOB and PCSK 9 genes. Although it is described that over 1700 variants have been found, none of the existing databases are completely updated. The aim of this work is to construct a FH database in order to provide a unique source of verified information about variants associated with FH for a more accurate genetic diagnosis.
- Environment and Health in Children Day Care Centres in Portugal - results from phase II on the ventilation characteristics of 16 schoolsPublication . Aelenei, D.; Azevedo, S.; Viegas, J.; Mendes, A.; Papoila, A.L.; Cano, M.; Martins, P.; Neuparth, N.
- Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patientsPublication . Alves, A.C.; Azevedo, S.; Benito-Vicente, A.; Etxebarria, A.; Barros, P.; Medeiros, A.M.; Martín, C.; Bourbon, MafaldaAims: 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.
- Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patientsPublication . Alves, A.C.; Azevedo, S.; Benito-Vicente, A.; Etxebarria, A.; Barros, P.; Medeiros, A.M.; Martín, C.; Bourbon, MafaldaMutations 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 was to functionally characterize the 16 most common LDLR alterations in our cohort without functional characterization found in Portuguese patients and worldwide.
- LDLR functional in vitro assays: a step forward for the correct genetic diagnosis of familial hypercholesterolemiaPublication . Azevedo, S.; Alves, A.C.; Medeiros, A.M.; Barros, P.; Martín, C.; Bourbon, M.Aim: Familial hypercholesterolaemia (FH) is an autosomal dominant disorder that confers an increased cardiovascular risk, due to high levels of cholesterol in blood since birth. FH has a prevalence of 1:500 and about 90% of these patients have mutations in the LDLR. Although more than 1600 alterations have been identified in FH patients, the majority of them remain without functional studies, being the aim of this work to construct vectors for the in vitro study of common alterations in Portuguese FH patients, contributing for phenotype/genotype clarification.
- Novel LDLR variants in Iberoamerica: preliminary molecular results of familial hypercholesterolaemia in IberoamericaPublication . Azevedo, S.; Bañares, V.; Schreier, L.; Vázquez, A.; Medeiros, A.M.; Alves, A.C.; Bourbon, MafaldaFamilial Hypercholesterolaemia (FH) is an autosomal dominant disorder with increased cardiovascular risk, due to high levels of cholesterol in blood since birth. The study of the molecular basis of FH in Iberoamerican countries, which have an historical link, can contribute for phenotype/genotype clarification and improve patient prognosis. One of the aims of the recently formed Iberoamerica Familial Hypercholesterolaemia Network is to promote these studies. The aim of the present study is to promote, at early age, an accurate identification and diagnosis of FH in Iberoamerican countries, so preventive measures and if necessary yearly treatment, can be implemented in order to give these patients a longer and better life.
- Preliminary results on indoor environmental quality in day care centers located in LisbonPublication . Cano, M.; Azevedo, S.; Aguiar, F.; Almeida, G.; Brás, C.; Pinhal, H.; Nogueira, A.; Proença, M.C.The growing concern about indoor air quality results from the knowledge that exposure to indoor air pollutants may be higher than the exposure to outdoor air pollutants and from the evidence that in most developed countries day care centers are places where children spend most of their time. How environmental factors affect children respiratory health is still controversial and unclear. This paper describes the results from field measurements of physical parameters, chemical and biological indoor contaminants, to investigate indoor environmental quality, in 70 classrooms of 10 Children Day Care Centers (CDCC), located in Lisbon. Objective The aim of this study is to gather information on indoor environment of CDCC in order to correlate it with both ventilation and children’s health. Material and Methods Chemical contaminants (carbon dioxide, carbon monoxide, formaldehyde, total volatile organic compounds and PM10), biological contaminants (bacteria, fungi and house-dust mites) and thermal comfort parameters were monitored. Formaldehyde was analyzed according to NIOSH 3500 method using a visible absorption spectrometry with air samples taken on impingers by active sampling. Total volatile organic compounds were analyzed by gas chromatography according to the ISO 16000, part 6, with air samples taken on Tenax TA sorbent by active sampling. Carbon monoxide and carbon dioxide measurements were made using a Photoacoustic Multi- Gas Monitor INNOVA. Samples of viable microorganisms were collected using a MAS-100 sampler with Malt Extract Agar plates, Trypticase Soy Agar and MacConkey agar as collecting media for fungi, total bacteria and gram-negative bacteria. Dust samples were collected on filters using a vacuum cleaner with a DustreamTM collector and determined using an ELISA test to quantify mite antigens. PM10 were collected using PTFE filters on Personal Environmental Monitors attached to personal pumps and the filters were analyzed gravimetrically for particle mass. Thermal comfort was evaluated according to the ISO 7730 International Standard using a 1213 Bruel & Kjaer analyzer. Results The reported preliminary results only represent a small part of a larger study under development in 20 CDCC located on Lisbon and Porto. The mean CO2 concentration indoors exceeded the recommended level of 1800 mg/m3 in 54% of the 70 studied rooms, with a maximum concentration of 5630 mg/m3 and an outdoor average of 839 mg/m3. The majority of the studied rooms had suspended particulate matter, TVOC’s and formaldehyde concentrations under the recommended limits. In 51% of the rooms the bacterial concentrations exceed 500 ufc/m3 (recommended limit), being also observed predominance gram-positive bacteria. In 50% of the studied rooms fungal concentrations were above 500 ufc/m3, however the mean outdoor concentration was 560 ufc/m3. Conclusion The preliminary results provide evidence that ventilation is insufficient, resulting in the accumulation of human source contaminants, such as bacteria and CO2. Taking into consideration that the results correspond to the Spring period, when occupants maintain windows and doors open, we expect worse results in the Winter period.