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Platelet concentrate (PC) is a key blood component, which even in good storage conditions, susceptible to cellular damage over time. Hence, blood banks discard unused PC bags after 5 days of storage. Biomarkers of PC quality are therefore highly sought after in blood bank governance. We used the data (Gene Expression Omnibus: GSE61856) generated with next-generation sequencing to examine the expression profiles of microRNAs (miRNAs) from PCs that were stored for 6 days in a blood bank, that is, 1 day longer than is normally stored PC. We identified the 14 most differentially expressed miRNAs by comparing a control PC on the first day of storage with the PCs on each of the subsequent 5 days of storage from day 1 to 6. In all, we identified nine miRNAs with the downregulated profile (miR-145-5p, miR-150-5p, miR-183-5p, miR-26a-5p, miR-331-3p, miR-338-5p, miR-451a, miR-501-3p, and miR-99b-5p) and five upregulated miRNAs (miR-1304-3p, miR-411-5p, miR-432-5p, miR-668-3p, and miR-939-5p). These miRNAs were validated by real-time quantitative PCR in 100 PC units. As each PC unit is composed of platelets of five individuals, the validation was thus performed in 500 individuals (250 men and 250 women, comprised 18-40 years old adults). The data were analyzed with hierarchical clustering and principal component analysis, which revealed the variation of mean relative expression and the instability of miRNAs half-life on the fourth day of PC storage, which coincides with time of onset of platelet storage lesions. These new observations can usefully inform future decision-making and governance in blood banks concerning PC quality.

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RESUMO

A long-standing question and dilemma in precision medicine is whether and to what extent genotyping or phenotyping drug metabolizing enzymes such as CYP2D6 can be used in real-life global clinical and societal settings. Although in an ideal world using both genotype and phenotype biomarkers are desirable, this is not always feasible for economic and practical reasons. Moreover, an additional barrier for clinical implementation of precision medicine is the lack of correlation between genotype and phenotype, considering that most of the current methods include only genotyping. Thus, the present study evaluated, using dextromethorphan as a phenotyping probe, the relationship between CYP2D6 phenotype and CYP2D6 genotype, especially for the ultrarapid metabolizer (UM) phenotype. We report in this study, to the best of our knowledge, the first comparative clinical pharmacogenomics study in a Cuban population sample (N = 174 healthy volunteers) and show that the CYP2D6 genotype is not a robust predictor of the CYP2D6 ultrarapid metabolizer (mUM) status in Cubans. Importantly, the ultrarapid CYP2D6 phenotype can result in a host of health outcomes, such as drug resistance associated with subtherapeutic drug concentrations, overexposure to active drug metabolites, and altered sensitivity to certain human diseases by virtue of altered metabolism of endogenous substrates of CYP2D6. Hence, phenotyping tests for CYP2D6 UMs appear to be a particular necessity for precision medicine in the Cuban population. Finally, in consideration of ethical and inclusive representation in global science, we recommend further precision medicine biomarker research and funding in support of neglected or understudied populations worldwide.

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A patologia clínica/medicina laboratorial é uma especialidade direcionada à realização de exames complementares no auxílio ao diagnóstico, com impacto nos diferentes estágios da cadeia de saúde: prevenção, diagnóstico, prognóstico e acompanhamento terapêutico. Diversos elementos apontam para maior utilização da medicina diagnóstica no futuro. Para discutirmos as principais tendências na medicina laboratorial, descrevemos os fatores que colaboram e são fundamentais para o crescimento desse mercado denominados, neste estudo, drivers de crescimento. As principais tendências que terão forte impacto na medicina laboratorial, e que serão descritas neste artigo, são: ferramentas de gestão, inserção de novos testes no mercado e rol de procedimentos, qualidade dos serviços em medicina diagnóstica, modelos de operação, automação, consolidação e integração, tecnologia da informação, medicina personalizada e genética. Sabemos que a medicina diagnóstica demonstra sua importância ao participar de 70 por cento das decisões clínicas, absorvendo uma pequena parte dos custos em saúde (cerca de 10 por cento). Todas as tendências analisadas neste trabalho apontam para um crescimento na utilização dos exames laboratoriais e também para sua importância na cadeia de saúde. Esse novo posicionamento, somado às novas expectativas de alta resolubilidade, pressiona o mercado e as companhias que o compõem a buscar mudanças e novas estratégias de atuação.

Clinical pathology/laboratory medicine, a specialty focused on performing complementary tests to aid diagnosis, has impact upon several stages of health care: prevention, diagnosis, prognosis, and therapeutic management. There are several factors that will foster the use of laboratory medicine in the future. In order to discuss the main trends in laboratory medicine, this article describes the major factors that have promoted growth in this market, which herein are referred to as growth drivers. The major trends that will cause substantial impact on laboratory medicine are: management tools, inclusion of new tests and procedures, service quality, operational models, automation, consolidation and integration, information technology, personalized and genetic medicine. Laboratory medicine occupies a pivotal role in 70 percent of all clinical decisions with minimal healthcare costs of approximately 10 percent. All trends discussed herein sustain an increase in the use of laboratory tests as well as its importance in health care. Both this new model and the expectation of optimal solutions have led the market to search for changes and new management strategies.

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