Publications by authors named "R Toro"

Purpose: Sarcopenia is a progressive and generalized skeletal muscle disorder, involving the accelerated loss of skeletal muscle mass and function, associated with an increased probability of adverse outcomes including falls. The circadian timing system may be involved in molecular pathways leading to sarcopenia in older adults. We aimed to provide an updated and systematic map of the available evidence on the role of the circadian timing system in sarcopenia, specifically related to the aging process.

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  • Excess lipid buildup in the heart leads to lipotoxicity and cardiac issues, with PPARγ influencing key fatty acid metabolism pathways.
  • Overexpressing PPARγ in heart cells causes dilated cardiomyopathy in mice, while miR-130b-3p is found to be downregulated in patients, highlighting a potential protective role.
  • The study shows that when miR-130b-3p is increased in human cardiomyoblasts, it reduces the harmful effects of palmitate-induced stress by targeting and downregulating PPARγ, thus alleviating oxidative stress and cell apoptosis.
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Inherited arrhythmogenic syndromes comprise a heterogenic group of genetic entities that lead to malignant arrhythmias and sudden cardiac death. Genetic testing has become crucial to understand the disease etiology and allow for the early identification of relatives at risk; however, it requires an accurate interpretation of the data to achieve a clinically actionable outcome. This is particularly challenging for the large number of rare variants obtained by current high-throughput techniques, which are mostly classified as of unknown significance.

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  • Genetic testing is crucial for diagnosing short QT syndrome, a rare inherited condition that leads to dangerous heart rhythms and is marked by short QT intervals on an ECG.
  • Researchers reviewed and updated knowledge about 34 rare genetic variants linked to short QT syndrome, identifying only nine that definitively cause the condition.
  • The variants were found in four main genes (KCNQ1, KCNH2, KCNJ2, SLC4A3), highlighting the importance of reanalyzing genetic data to improve patient care and early identification of at-risk individuals.
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Background: There is increasing evidence of shared genetic factors between psychiatric disorders and brain magnetic resonance imaging (MRI) phenotypes. However, deciphering the joint genetic architecture of these outcomes has proven to be challenging, and new approaches are needed to infer the genetic structures that may underlie those phenotypes. Multivariate analyses are a meaningful approach to reveal links between MRI phenotypes and psychiatric disorders missed by univariate approaches.

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