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Browsing by Issue Date, starting with "2018-12-07"

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  • Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence
    Publication . Paiva Coelho, Margarida; Martins, Esmeralda; Vilarinho, Laura
    Primary mitochondrial disorders are highly variable in clinical presentation, biochemistry, and molecular etiology. Mitochondrial disorders can be caused by genetic defects in the mitochondrial, in nuclear genome, or in the interplay between the two genomes. Biochemical screening tests may be inconclusive or misleading since patients, with confirmed mitochondrial disorders specially in pediatric age, may exhibit normal routine biochemistry, muscle histology, or enzymatic analysis of the mitochondrial respiratory chain. Diagnosis is often challenging even with combination of multiple criteria (clinical, biochemical, histological, and functional), as innumerous conditions cause secondary mitochondrial dysfunction. Nowadays, a definite diagnosis is only possible by genetic confirmation since no single score system is satisfactorily accurate, being sensitive but not specific.Conclusion: Awareness between physicians is of major importance considering that clinical suspicion may not be obvious regarding the heterogenicity in presentation and biochemical features of mitochondrial disorders. In this review, we provide information on diagnosis approach to patients suspected for mitochondrial disorders as well as management on chronic and acute settings. Follow-up should provide comprehensive information on patient's status, since intervention on these diseases is mostly supportive and prognosis is variable and sometimes unpredictable. What is Known: • Mitochondrial disorders are heterogenous and may present at any age, with any symptoms and any type of inheritance. • Mitochondrial disorders may be due to pathogenic variants in mitochondrial DNA (mtDNA) or nuclear genes (nDNA). What is New: • Since no single score system is satisfactorily accurate, a definite diagnosis is only possible with genetic studies with gene panels proving to be a cost-effective approach. • Clinical and biochemical features of patients without a confirmed diagnosis must be reviewed and other diagnosis must be considered. A wider genetic approach may be applied (WES or WGS).
    2018-12-07Journal article Restricted access Show more
  • Anomalias cromossómicas: síndromes e estratégias de diagnóstico
    Publication . Correia, Hildeberto; Brito, Filomena; Serafim, Silvia
    Objetivo: Divulgar a atividade da Unidade de Citogenética (UCI) do Departamento de Genética Humana do Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA): 1. Anomalias Cromossómicas e metodologias laboratoriais; 2. Síndromes/indicações clínicas e estratégias de diagnóstico; 3. Teste genético de array; 4. Apresentação de casos clínicos.
    2018-12-07Lecture Restricted access Show more
  • Planning a One Health Case Study to Evaluate Methicillin Resistant Staphylococcus aureus and Its Economic Burden in Portugal
    Publication . Igrejas, Gilberto; Correia, Susana; Silva, Vanessa; Hébraud, Michel; Caniça, Manuela; Torres, Carmen; Gomes, Catarina; Nogueira, Fernanda; Poeta, Patrícia
    Methicillin-resistant Staphylococcus aureus (MRSA) is one of the most important multidrug-resistant nosocomial pathogens worldwide with infections leading to high rates of morbidity and mortality, a significant burden to human and veterinary clinical practices. The ability of S. aureus colonies to form biofilms on biotic and abiotic surfaces contributes further to its high antimicrobial resistance (AMR) rates and persistence in both host and non-host environments, adding a major ecological dimension to the problem. While there is a lot of information on MRSA prevalence in humans, data about MRSA in animal populations is scarce, incomplete and dispersed. This project is an attempt to evaluate the current epidemiological status of MRSA in Portugal by making a single case study from a One Health perspective. We aim to determine the prevalence of MRSA in anthropogenic sources liable to contaminate different animal habitats. The results obtained will be compiled with existing data on antibiotic resistant staphylococci from Portugal in a user-friendly database, to generate a geographically detailed epidemiological output for surveillance of AMR in MRSA. To achieve this, we will first characterize AMR and genetic lineages of MRSA circulating in northern Portugal in hospital wastewaters, farms near hospitals, farm animals that contact with humans, and wild animals. This will indicate the extent of the AMR problem in the context of local and regional human-animal-environment interactions. MRSA strains will then be tested for their ability to form biofilms. The proteomes of the strains will be compared to better elucidate their AMR mechanisms. Proteomics data will be integrated with the genomic and transcriptomic data obtained. The vast amount of information expected from this omics approach will improve our understanding of AMR in MRSA biofilms, and help us identify new vaccine candidates and biomarkers for early diagnosis and innovative therapeutic strategies to tackle MRSA biofilm-associated infections and potentially other AMR superbugs.
    2018-12-07Journal article Open access Show more