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http://dx.doi.org/10.1186/s13063-020-04519-4 | DOI Listing |
Nat Commun
December 2024
Department of Chemical and Biomolecular Engineering, Rice University, Houston, TX, USA.
Programmable and modular systems capable of orthogonal genomic and transcriptomic perturbations are crucial for biological research and treating human genetic diseases. Here, we present the minimal versatile genetic perturbation technology (mvGPT), a flexible toolkit designed for simultaneous and orthogonal gene editing, activation, and repression in human cells. The mvGPT combines an engineered compact prime editor (PE), a fusion activator MS2-p65-HSF1 (MPH), and a drive-and-process multiplex array that produces RNAs tailored to different types of genetic perturbation.
View Article and Find Full Text PDFNeurol Neurochir Pol
December 2024
Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.
Introduction And State Of The Art: Systemic lupus erythematosus (SLE) is an autoimmune disease that affects many organs throughout its course, most frequently the joints, skin and kidneys. Both the central (CNS) and peripheral (PNS) nervous systems are also often affected. T he involvement of the CNS has a negative prognosis in lupus patients.
View Article and Find Full Text PDFFront Neurol
December 2024
Department of Biomedical Engineering, Faculty of Engineering, Universiti Malaya, Kuala Lumpur, Malaysia.
Alzheimer's disease (AD) is a neurodegenerative ailment that is becoming increasingly common, making it a major worldwide health concern. Effective care depends on an early and correct diagnosis, but traditional diagnostic techniques are frequently constrained by subjectivity and expensive costs. This study proposes a novel Vision Transformer-equipped Convolutional Neural Networks (VECNN) that uses three-dimensional magnetic resonance imaging to improve diagnosis accuracy.
View Article and Find Full Text PDFCureus
November 2024
Intensive Medicine, Hospital Pedro Hispano, Matosinhos, PRT.
Isolated cricoid fractures are exceedingly rare but can be life-threatening. Injuries caused by minor neck trauma related to external laryngeal manipulation or an inappropriate tube cuff size have been reported in the literature. Symptoms typically appear immediately after the traumatic episode.
View Article and Find Full Text PDFCureus
November 2024
Physical Medicine and Rehabilitation, St. John's National Academy of Health Sciences, Bengaluru, IND.
Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare genetic disorder characterized by muscle weakness, joint contractures, and cardiac dysfunction. Within this spectrum, EDMD Type 2, attributed to a heterozygous missense variant in exon 9 of the LMNA gene, presents a distinctive clinical profile. This case report details the presentation and management of a teenage girl displaying neck, trunk, upper and lower limb weakness, Achilles tendon contracture, and lordosis.
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