Publications by authors named "M L Monforte"
Background: Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35). The assessment of DNA methylation at two regions (DUX4-PAS and DR1) of D4Z4 locus proved to be an effective method to detect epigenetic signatures compatible with FSHD. The present study aims at validating the employment of this method into clinical practice and improving the protocol by refining the classification thresholds of 4qA/4qA patients.
View Article and Find Full Text PDFBackground: Data regarding unequal diagnostic and therapeutic access in patients with acute stroke based on ethnicity and race are inconclusive in Europeans. The objectives of our study were to evaluate the effect of race/ethnicity on access to acute stroke care and treatments and outcomes.
Methods: In this retrospective cohort study, we enrolled adult patients admitted to the emergency department of a comprehensive stroke center for suspected stroke.
Myo-regressor Deep Informed Neural NetwOrk (Myo-DINO) for fast MR parameters mapping in neuromuscular disorders.
Comput Methods Programs Biomed
November 2024
Article Synopsis
- Researchers have developed a Physics Informed Neural Network (Myo-DINO) to improve Magnetic Resonance Imaging (mMRI) by efficiently mapping MR parameters like Fat Fraction and water-T in patients with Neuromuscular Disorders (NMDs).
- The study utilized a dataset of 2165 images from Multi-Echo Spin Echo (MESE) scans, where ground truth maps were derived using the MyoQMRI toolbox based on signal evolution theories.
- The Myo-DINO model incorporated unique physics-based loss functions to enhance accuracy, adjusting hyperparameters to balance the influence of physics and standard loss functions during training.
Article Synopsis
- The study focuses on diagnosing myofibrillar myopathies (MFM) and distal myopathies (DM), addressing the complexity due to numerous causative genes and overlapping symptoms.
- It involves a retrospective analysis of data from 132 MFM and 298 DM patients collected from various neuromuscular centers, highlighting demographic, genetic, and clinical details.
- Results indicate that 63% of patients had molecular confirmation of their condition, with significant findings including common pathogenic variants and varying ages of onset, as well as notable cardiac and respiratory complications linked to specific genetic variants.