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- In vitro and in vivo assessment of nanoceria biocompatibility for their safe use in nervous system applicationsPublication . Fernández-Bertólez, Natalia; Martínez, Luisa; Ramos-Pan, Lucía; Touzani, Assia; Costa, Carla; Laffon, Blanca; Valdiglesias, VanessaNanoceria, or cerium dioxide nanoparticles (CeO NP), are increasingly employed in a number of industrial and commercial applications. Hence, the environmental presence of these nanoparticles is growing progressively, enhancing the global concern on their potential health effects. Recent studies suggest that nanoceria may also have promising biomedical applications particularly in neurodegenerative and brain-related pathologies, but studies addressing their toxicity, and specifically on the nervous system, are still scarce, and their potential adverse effects and action mechanism are not totally understood yet. The objective of this work was to assess the biological behaviour of CeO NP in vitro in human nervous systems cells, and in vivo in Drosophila melanogaster to characterize their safety for exposed individuals and verify their suitability to be further employed in diagnosis and treatment of nervous system disorders. Cell cycle alterations, late apoptosis rate and DNA damage (comet and γH2AX assays), were determined in neuronal SH-SY5Y and glial A172 cells treated with nanoceria. Moreover, the survival rate, morphological changes and behavioural alterations were analysed in D. melanogaster individuals chronically exposed to CeO NP. The results obtained from the in vitro assessment showed that the nanoceria generally presented a good biocompatibility with scarce cyto- or genotoxic effects, essentially depending the exposure time and cell type, and being restricted to the longer exposure periods. Nevertheless, decrease in adult size and alterations observed in the larval crawling in the in vivo assays highlight the need of further investigations before establishing clinical uses of nanoceria.
- Subprodutos alimentares: potenciais aplicações em farmáciaPublication . Albuquerque, T.G.Comunicação sobre os potenciais aplicações dos subprodutos alimentares em farmácia.
- Familial Partial Lipodystrophy, Dunnigan- type: 2 families identified in a genetic laboratoryPublication . Alves, Ana Catarina; Medeiros, Ana Margarida; Ferreira, Maria; Miranda, Beatriz; Moldavan, Oana; Travessa, André; Rodrigues, Márcia; Bourbon, MafaldaLipodystrophies are a clinically heterogeneous group of acquired or inherited disorders affecting adipose tissue distribution. familial partial lipodystrophy, Dunnigan-type (FPLD2, OMIM 151660) is the most prevalent subtype and is an autosomal dominant disease characterized by the selective absence of adipose tissue in the extremities and trunk, with fat accumulation in the face, neck, and supraclavicular region. Individuals exhibit a muscular, hypertrophic appearance, particularly in the lower limbs. Affected individuals are born with a normal fat distribution but may present hyperlipidemia in childhood and begin to progressively lose subcutaneous fat after puberty. Later in life, they frequently develop metabolic complications, including hypertriglyceridemia, insulin resistance, diabetes mellitus, hepatic steatosis, and hypertension. In women, acanthosis nigricans, hirsutism, menstrual irregularities, and polycystic ovarian disease are commonly observed. Notably, the phenotype appears more pronounced in females, potentially leading to underdiagnosis in males due to lighter physical changes. Approximately 75% of patients with a clinical diagnosis of FPLD2 reported in the literature carry the same LMNA variant, p.(Arg482Trp) in exon 6 of the Lamina gene (LMNA) The aim of this study was to clinically and molecularly characterize two Portuguese families with a clinical diagnosis of lipodystrophy. We present the clinical and genetic characterization of two kindreds with multiple affected family members of different ages. Sequencing of the LMNA gene was performed by PCR and direct sequencing of all exons. Both index cases were found to carry the most common LMNA variant in heterozygosity p.(Arg482Trp), a missense variant in exon 6. Family screening identified six additional heterozygous carriers in Family I (including two children) and four in Family II (including one children). Both index cases were women and exhibited the characteristic of FPLD2 phenotype. Given the high prevalence of premature and severe cardiovascular events in these patients, early diagnosis is crucial for implementing appropriate treatment strategies and preventing disease progression. The genetic diagnosis allows for an earlier diagnosis, granting a better clinical counselling regarding lifestyle modifications since adolescence and a personalized treatment plan to reduce their risk of coronary heart disease (CHD).