Browsing by Issue Date, starting with "2023-04-17"
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- Integrated Use of Bioaccumulation, Genotoxic, and Haematological Endpoints to Assess the Effect of Water Remediation Strategies on Fish Health: A Complementary StudyPublication . Mieiro, Cláudia; Coelho, João; Reis, Ana Teresa; Castro, Diana; Figueira, Paula; Martinho, Filipe; Pardal, Miguel; Pereira, Eduarda; Pacheco, Mário; Lopes, CláudiaBiosorption successfully remediates saline water contaminated with legacy contaminants, but its effects on the health of marine organisms remain unclear. Therefore, our aim was to address this knowledge gap with data on the accumulation ability, as well as the cytogenetic and biochemical effects in turbot (Scophthalmus maximus). To this end, we exposed turbot for seven days to a mixture of remediated metals (Rem treatments: Cd, Hg, and Pb), with and without the presence of nanoparticles (NP), and compared them with the maximum allowable concentrations (MAC treatment) for effluent discharges. We determined the metal accumulation in the blood and kidney and evaluated haematological changes (red blood cell count, haemoglobin, and mean cell haemoglobin (MCH)) and genotoxicity (erythrocytic nuclear abnormalities assay) in the blood. The results showed that remediation with non-living macroalgae significantly reduced the metallic blood and kidney burdens in the Rem treatments. Furthermore, no genotoxic potential occurred in the Rem and MAC treatments in parallel with the reduction in MCH levels in the Rem treatments, which would reflect hematopoietic disturbances in the MAC. Our results validate biosorption remediation as we achieved a considerable reduction in metal loads while maintaining the health status of fish, highlighting the importance of testing water remediation methods in the biota.
- Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in PortugalPublication . Alves, Ana Catarina; Miranda, Beatriz; Moldovan, Oona; Espírito Santo, Raquel; Gouveia Silva, Raquel; Soares Cardoso, Sandra; Diogo, Luísa; Seidi, Mónica; Sequeira, Sílvia; Bourbon, MafaldaDyslipidaemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-C) and/or HDL cholesterol (HDL-C). Most hyperlipidaemias and HDL deficiencies confer an increased cardiovascular risk, while hypolipidaemia, such as abeta or hypobetalipoproteinemia, may present different manifestations ranging from poor weight progression to neurological manifestations. The aim of this study is to present 7 cases with rare dyslipidaemias associated with low LDL or low HDL cholesterol values, referred to our laboratory for the genetic identification of the cause of the dyslipidaemia. Lipid profile was determined for each individual in an automated equipment Integra Cobas (Roche). Molecular analysis was performed by NGS with a target panel of 57 genes involved in lipid metabolism (Sure select QXT, Agilent) and samples were run in a NextSEQ Sequencer (Illumina). Only genes associated to rare forms of low HDL-c or LDL-c were analysed for this work, namely: ABCA1, APOA1, LCAT, SCARB1, APOB, PCSK9, MTTP, SAR1B, and ANGPTL3. All rare variants (MAF<5%) found in these genes were confirmed by Sanger sequencing. This study includes 7 index cases (IC), with the following clinical diagnoses: Fish Eye Disease (1), Hypoalphalipoproteinemia (1) and Abetalipoproteinemia (ABL) / Familial Hypobetalipoproteinemia (FHBL) (5). We have identified one IC with a compound heterozygosity in LCAT causing Fish Eye Disease and one IC with a variant in ABCA1 in homozygosity causing Tangier disease. We found variants causing homozygous FHBL in 2 IC, one of whom has an undescribed pathogenic variant in homozygosity in APOB (c.12087+1G>A) and the other is a possible compound heterozygous for APOB variants c.2604+1G>A and c.4651C>T/p.(Gln1551*). In two patients only a variant in heterozygosity (c.3365delG/p.(Gly1122Vfs*62) and c.11095A>T/p.(Arg3699*)). In the remaining patient, no variants were identified. NGS proved to be a fundamental key for genetic testing of rare lipid disorders, allowing us to find the genetic cause of disease in 6/7 patients with low HDL-c and LDL-c. Patients with these rare conditions should be identified as early as possible in order to minimize or prevent clinical manifestations. The unsolved case is still under investigation.