Publications by authors named "Alzenir R Souza"

Article Synopsis
  • Sickle cell disease (SCD) often leads to vaso-occlusive crises, which can result in severe organ damage including osteonecrosis (ON), affecting up to 50% of SCD patients.
  • A study used NMR-based untargeted metabolomics to analyze blood plasma and bone marrow interstitial fluid from SCD patients with osteonecrosis, identifying metabolic changes linked to different disease stages.
  • Citrate may serve as a potential biomarker to distinguish SCD patients with and without osteonecrosis, while metabolites like acetate, creatinine, and glucose were associated with various disease stages; however, the study's findings are limited by small sample sizes and lack of validation.
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Sickle cell anaemia (SCA) is a debilitating genetic haemoglobinopathy predominantly affecting the disenfranchised strata of society in Africa and the Americas. The most common pharmacological treatment for this disease is the administration of hydroxycarbamide (HC) for which questions remain regarding its mechanism of action, efficacy and long-term toxicity specifically in paediatric individuals. A multiplatform metabolomics approach was used to assess the metabolome of plasma samples from a population of children and adolescents with SCA with and without HC treatment along with non-SCA individuals.

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The metabolome is affected by individual physiologic and pathophysiologic states as well as the environment. Metabolomics has become crucial approach for clinical studies, providing a better understanding of disease mechanisms. The expansion of analytical methods aiming at performing detailed analysis of biofluids has led to the characterization of many disease biomarkers.

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