Publications by authors named "Rui d'Avila"
Background: Xanthine oxidase inhibitors (XOI), classified as purine-like (allopurinol and oxypurinol) and non-purine (febuxostat and topiroxostat) XOI, present antioxidant properties by reducing the production of reactive oxygen species derived from purine metabolism. Oxidative stress is an important factor related to endothelial dysfunction and ischemia-reperfusion injury, and may be implicated in the pathogenesis of heart failure, hypertension, and ischemic heart disease. However, there is contradictory evidence regarding the possible cardiovascular (CV) protective effect exerted by XOI.
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- Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a neurological disorder with no treatments available that modify the disease's progression, and this study explores oxidative stress as a potential biomarker for the condition.
- Researchers measured reactive oxygen species (ROS) and antioxidant enzyme activities in 58 symptomatic SCA3/MJD patients, 12 presymptomatic patients, and 47 control individuals to determine correlations with clinical data.
- Results showed significantly higher ROS levels and reduced antioxidant activity in symptomatic patients compared to both presymptomatic and control groups, suggesting a link between oxidative stress and disease severity that could inform future research on potential biomarkers.
Article Synopsis
- The study investigates serum cytokine levels in both symptomatic and asymptomatic carriers of Machado Joseph disease, analyzing a wide range of cytokines in confirmed cases and controls.
- A total of 66 symptomatic carriers, 13 asymptomatic carriers, and 43 controls were examined, with specific attention given to the cytokine eotaxin, which was found to be significantly elevated in asymptomatic carriers compared to both symptomatic carriers and controls.
- Results showed no significant differences in cytokine patterns between controls and carriers overall, but eotaxin levels decreased among symptomatic carriers over a 360-day period, suggesting that serum cytokines may exhibit a benign pattern in SCA3/MJD patients.
Background: In a recent phase 2 clinical trial in spinocerebellar ataxia type 3/Machado Joseph disease (SCA3/MJD), a neurogenetic disorder without specific therapy, benefits of lithium carbonate were found only on secondary efficacy outcomes, all related to ataxic features. In order to help designing future studies, we further analyzed the trial data searching for treatment response modifiers and metric properties of spinocerebellar ataxia (SCA) scales.
Methods: Efficacy analysis was performed with the Neurological Examination Score for the Assessment of Spinocerebellar Ataxia (NESSCA) and the Scale for the Assessment and Rating of Ataxia (SARA) subscores and with the subgroup of patients with independent gait according to the 8-meter walking-time (8MW).
Background: Because lithium exerts neuroprotective effects in preclinical models of polyglutamine disorders, our objective was to assess the safety and efficacy of lithium carbonate (0.5-0.8 milliequivalents per liter) in patients with Machado-Joseph disease (spinocerebellar ataxia type 3 [MJD/SCA3]).
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