Publications by authors named "C Parodi"
Background: the protein phosphatase 3 catalytic subunit alpha (PPP3CA) gene encodes for the alpha isoform of the calcineurin catalytic subunit, which controls the phosphorylation status of many targets. Currently, 23 pathogenic variants of PPP3CA are known, with clinical manifestations varying by mutation type and domain.
Results: through whole exome sequencing, we found two de novo variants in PPP3CA: a frameshift variant predicted leading to a truncated protein in Pt.
Article Synopsis
- Hippocampal sclerosis (HS) is a major cause of temporal lobe epilepsy (TLE) but can be hard to detect on MRI, leading to surgical delays, so researchers created open-source software to improve diagnosis.
- The study involved 365 participants, using the software HippUnfold to analyze MRI scans and develop a logistic regression model that accurately identifies and localizes HS.
- The classifier showed high accuracy in detecting HS in both initial and independent patient cohorts, proving effective for individual assessments by comparing patient data with normative growth patterns.
Article Synopsis
- Pediatric brain tumors are the second most common tumors after leukemia, with an incidence of 6.13 per 100,000 annually.
- Conventional MRI and CT scans are essential for diagnosing, planning surgery, and evaluating treatment, but they have limitations in providing detailed histopathological information.
- New advanced MRI techniques and molecular imaging methods, like PET scans, are enhancing diagnosis and prognosis, while radiomics and radiogenomics offer innovative ways to tailor treatment strategies based on individual biomarkers.
Introduction: Continuous extracorporeal perfusion (ECP), or machine perfusion, holds promise for prolonged skeletal muscle preservation in limb ischemia-reperfusion injury. This study aimed to extend the amputation-to-replantation time window from currently 6 hours to 33 hours using a 24-hour ECP approach.
Materials And Methods: Six large white pigs underwent surgical forelimb amputation under general anesthesia.
Background And Aims: Type 1 long QT syndrome (LQT1) is caused by pathogenic variants in the KCNQ1-encoded Kv7.1 potassium channels, which pathologically prolong ventricular action potential duration (APD). Herein, the pathologic phenotype in transgenic LQT1 rabbits is rescued using a novel KCNQ1 suppression-replacement (SupRep) gene therapy.
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