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A Case of a Short Stature Patient With Marfan Syndrome: A Tale of Wide Mediastinum.
Cureus
December 2024
Internal Medicine, Icahn School of Medicine at Mount Sinai, Queens Hospital Center, New York, USA.
Marfan syndrome (MFS), an inherited connective tissue disorder, is caused by a mutation in the FBN1 gene. MFS is characterized by complex manifestations involving musculoskeletal, cardiovascular, and ocular systems. The usual presentation for suspecting diagnosis in an individual with aortic root disease is tall stature in addition to other features that fulfill Ghent criteria.
View Article and Find Full Text PDFTexture Analysis of Cartilage Repair Tissue Maturation: Comparison of Two Cartilage Repair Methods and Correlation with MOCART 2.0.
Cartilage
January 2025
High-Field MR Centre, Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.
Objective: The objective of this study was to assess the maturation of matrix-associated autologous chondrocyte transplantation (MACT) grafts up to 2 years after the surgery using gray-level co-occurrence matrix (GLCM) texture analysis of quantitative T maps, compare the results with the microfracturing technique (MFX) control group, and relate these results to the morphological MOCART 2.0 score.
Design: A subcohort of 37 patients from prospective, multi-center study underwent examination on a 3T MR scanner, including a T mapping sequence at 3, 12, and 24 months after surgery.
Foot peripheral sensory neuropathy: a frequent disabling manifestation in systemic sclerosis.
Rheumatology (Oxford)
January 2025
Leeds Institute of Rheumatic and Musculoskeletal Medicine, School of Medicine, University of Leeds, Leeds, UK.
Objectives: Peripheral Sensory Neuropathy (PSN) is an under-recognized feature in systemic sclerosis (SSc). Moreover, SSc foot involvement is frequent but poorly investigated. We aimed to provide a detailed characterization of foot PSN in a large cohort of SSc patients, describing its associations with disease-specific features, physical disability, and Quality of Life (QoL).
View Article and Find Full Text PDFTriangular Margin: Reliable Imaging Feature of Fibrous Dysplasia in Long Bones?
J Comput Assist Tomogr
January 2025
Department of Radiology, Division of Musculoskeletal Imaging and Intervention, Massachusetts General Hospital, Boston, MA.
Objective: To determine the utility of a triangular margin as an imaging diagnostic feature for fibrous dysplasia.
Materials And Methods: We retrospectively reviewed all surgically biopsied or managed benign and malignant bone tumors by a single orthopedic oncologist over 19 years (2003 to 2022). A musculoskeletal radiologist and an orthopedic oncologist, both with >10 years of experience, retrospectively evaluated all imaging in consensus.
Lupus and inflammatory bowel disease share a common set of microbiome features distinct from other autoimmune disorders.
Ann Rheum Dis
January 2025
Meinig School of Biomedical Engineering, Cornell University, Ithaca, New York, USA. Electronic address:
Objectives: This study aims to elucidate the microbial signatures associated with autoimmune diseases, particularly systemic lupus erythematosus (SLE) and inflammatory bowel disease (IBD), compared with colorectal cancer (CRC), to identify unique biomarkers and shared microbial mechanisms that could inform specific treatment protocols.
Methods: We analysed metagenomic datasets from patient cohorts with six autoimmune conditions-SLE, IBD, multiple sclerosis, myasthenia gravis, Graves' disease and ankylosing spondylitis-contrasting these with CRC metagenomes to delineate disease-specific microbial profiles. The study focused on identifying predictive biomarkers from species profiles and functional genes, integrating protein-protein interaction analyses to explore effector-like proteins and their targets in key signalling pathways.
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