Publications by authors named "R P Benitez"

Neutral lipid storage disease with myopathy is a rare genetic syndrome of abnormal intracellular lipolysis leading to lipid droplet accumulation in skeletal and cardiac muscle. Because of variability in clinical presentations, a multidisciplinary approach is essential for diagnosis and treatment.

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Article Synopsis
  • * Researchers identified 21 human ITPR1 GOF variants and created a mouse model with one of these variants (ITPR1-W1457G), which was found to be prone to stress-induced ventricular arrhythmias.
  • * Both mouse models and human data suggest that ITPR1 GOF variants increase Ca handling abnormalities and arrhythmia risk, with 7 rare ITPR1 variants in a human database showing similar GOF behavior linked to cardiac
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Age-related Macular Degeneration (AMD), Cataract, Diabetic Retinopathy (DR) and Glaucoma are the four most common ocular conditions that affect a person's vision. Early detection in the asymptomatic stages can alleviate vision loss or slow down the progression of these diseases. However, manual diagnosis is a costly and tedious process, especially in mass screening applications.

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The use of a video method based on the Digital Image Correlation (DIC) algorithm from experimental mechanics to estimate the displacements, strain field, and sarcolemma length in a beating single-cell cardiomyocyte is proposed in this work. The obtained deformation is then correlated with the calcium signal, from calcium imaging where fluorescent dyes sensitive to calcium Ca are used. Our proposed video-based method for simultaneous contraction and intracellular calcium analysis results in a low-cost, non-invasive, and label-free method.

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Background: Patients receiving standard treatment for chronic subdural hematoma have a high risk of treatment failure. The effect of adjunctive middle meningeal artery embolization on the risk of treatment failure in this population remains unknown.

Methods: We randomly assigned patients with symptomatic chronic subdural hematoma to undergo middle meningeal artery embolization as an adjunct to standard treatment (embolization group) or to receive standard treatment alone (control group).

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