NAR Genom Bioinform
December 2024
There is a growing interest in generating bimodal, single-cell RNA sequencing (RNA-seq) data for studying biological pathways. These data are predominantly utilized in understanding phenotypic trajectories using RNA velocities; however, the shape information encoded in the two-dimensional resolution of such data is not yet exploited. In this paper, we present an elliptical parametrization of two-dimensional RNA-seq data, from which we derived statistics that reveal four different modalities.
View Article and Find Full Text PDFJ Cachexia Sarcopenia Muscle
February 2025
Extracellular vesicles (EVs) are small lipid vesicles shed by cells, carrying proteins, nucleic acids, and other molecular fingerprints. EVs have emerged as crucial mediators of cell-to-cell communication and hold great promise as biomarkers for liquid biopsies, enabling disease screening, diagnosis, prognosis, and monitoring. However, conventional EV separation methods are hampered by the presence of lipoproteins (LPs) in plasma samples, which have comparable characteristics and significantly outnumber EVs.
View Article and Find Full Text PDFFactor V Leiden (FVL) is the major genetic risk factor to predispose venous thromboembolism (VTE). We present a rare case of a 34-year-old Caucasian female heterozygous for this mutation and taking oral contraceptive pills (OCPs) for less than four months, who presented to the emergency department with acute onset of dyspnea and was diagnosed to have an isolated massive bilateral pulmonary embolism (PE). The patient was managed for six days in the hospital and was discharged on oral anticoagulants.
View Article and Find Full Text PDF5q-spinal muscular atrophy (SMA) is a neuromuscular disorder (NMD) that has become one of the first 5% treatable rare diseases. The efficacy of new SMA therapies is creating a dynamic SMA patient landscape, where disease progression and scoliosis development play a central role, however, remain difficult to anticipate. New approaches to anticipate disease progression and associated sequelae will be needed to continuously provide these patients the best standard of care.
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