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http://dx.doi.org/10.1161/CIRCGEN.118.002248 | DOI Listing |
Cureus
August 2025
Center for Neurological Restoration, Neurological Institute, Cleveland Clinic, Cleveland, USA.
Freezing of gait (FoG) is a disabling symptom of Parkinson's disease (PD) characterized by involuntary cessation/reduction. While deep brain stimulation (DBS) targeting the subthalamic nucleus (STN) effectively treats common PD symptoms such as tremor, its impact on FoG is less clear. Rarely, STN-DBS itself can induce FoG.
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August 2025
General Medicine, Queen Elizabeth Hospital Birmingham, Birmingham, GBR.
Diabetes mellitus is a metabolic condition leading to elevated blood glucose levels due to insulin deficiency, insulin resistance, or a combination of both. Chronically raised blood glucose levels can lead to a broad variety of microvascular and macrovascular complications. Neurological disorders are a common manifestation of diabetes mellitus, and poorly controlled diabetes mellitus frequently causes peripheral sensorimotor polyneuropathy and autonomic neuropathy.
View Article and Find Full Text PDFBackground: Sphericity is a measurement of how closely an object approximates a globe. The sphericity of the blood pool of the left ventricle (LV), is an emerging measure linked to myocardial dysfunction.
Methods: Video-based deep learning models were trained for semantic segmentation (pixel labeling) in cardiac magnetic resonance imaging in 84,327 UK Biobank participants.
Haematologica
September 2025
Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada; Department of Medicine, Queen's University, Kingston, ON.
Clonal hematopoiesis (CH) involves the expansion of hematopoietic stem cells with ageacquired mutations linked to myeloid malignancy. Advances in next-generation and single-cell sequencing, along with computational modeling, have expanded our ability to detect both common and rare CH drivers, including single-nucleotide variants and mosaic chromosomal alterations, with increasing sensitivity. While sequencing methods differ in accuracy, cost, and ability to detect low-frequency variants, they have deepened our understanding of CH biology.
View Article and Find Full Text PDFFront Genet
August 2025
Center for Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, China.
Background: Hemoglobinopathies are a group of autosomal recessive disorders characterized by a high degree of clinical and genetic heterogeneity. Comprehensive genetic screening for hemoglobin variants is crucial for prevention and treatment of these conditions. Single-molecule real-time (SMRT) sequencing enables efficient and reliable analysis of common and complex or rare hemoglobin variants.
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