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Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.
J Neurol
January 2025
Department of Neurology and Neurosciences, Donostia University Hospital, Biogipuzkoa Health Research Institute, Donostia-San Sebastián, Spain.
Background: Alpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key role in sarcomere stability. Mutations in ACTN2 have been associated with both hypertrophic and dilated cardiomyopathy and, more recently, with skeletal myopathy.
Methods: Genetic, clinical, and muscle imaging data were collected from 37 patients with an autosomal dominant ACTN2 myopathy belonging to 11 families from Spain and Belgium.
Time-lapse HR-pQCT reliably assesses and monitors local bone turnover in patients with chronic kidney disease.
J Bone Miner Res
January 2025
Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA, United States.
Bone turnover assessment and monitoring are essential for chronic kidney disease (CKD)-associated bone care. Patients with CKD suffer from significantly elevated fracture risk due to abnormally high or low bone turnover, which requires diametrically opposite treatments informed by patient-specific bone turnover data. However, a reliable, accessible, non-invasive bone turnover assessment and monitoring tool remains an unmet clinical need.
View Article and Find Full Text PDFComparison of a Novel Ultra-Widefield Three-Color Scanning Laser Ophthalmoscope to Other Retinal Imaging Modalities in Chorioretinal Lesion Imaging.
Transl Vis Sci Technol
January 2025
Jacobs Retina Center, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA.
Purpose: To compare the assessment of clinically relevant retinal and choroidal lesions as well as optic nerve pathologies using a novel three-wavelength ultra-widefield (UWF) scanning laser ophthalmoscope with established retinal imaging techniques for ophthalmoscopic imaging.
Methods: Eighty eyes with a variety of retinal and choroidal lesions were assessed on the same time point using Topcon color fundus photography (CFP) montage, Optos red/green (RG), Heidelberg SPECTRALIS MultiColor 55-color montage (MCI), and novel Optos red/green/blue (RGB). Paired images of the optic nerve, retinal, or choroidal lesions were initially diagnosed based on CFP imaging.
Introduction: Mu-opioid receptors (MORs) are G-coupled protein receptors with a high affinity for both endogenous and exogenous opioids. MORs are widely expressed in the central nervous system (CNS), peripheral organs, and the immune system. They mediate pain and reward and have been implicated in the pathophysiology of opioid, cocaine, and other substance use disorders.
View Article and Find Full Text PDF[Clinicopathological Analysis of 14 Cases of Primary Pulmonary Lymphoepithelial Carcinoma].
Zhongguo Fei Ai Za Zhi
November 2024
Department of Pathology, the First Affiliated Hospital of Soochow University, Suzhou 215006, China.
Background: Primary pulmonary lymphoepithelial carcinoma (PPLEC) is a rare form of lung malignancy, accounting for only 0.7% of all lung cancers. It is currently classified as a distinct subtype within squamous cell carcinomas.
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