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Enhancing Mobility: Surgical Deformity Correction and Rehabilitation in Emery-Dreifuss Muscular Dystrophy Type 2.
Cureus
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.
View Article and Find Full Text PDFVIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review.
Orphanet J Rare Dis
December 2024
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor.
Results: We present two related patients from Kosovo, describing the clinical, genetic, and therapeutic aspects of the syndrome. The identified novel VIPAS39 pathological variants (c.
Thioredoxin-interacting protein (TXNIP) inhibition promotes retinal ganglion cell survival and facilitates M1-like microglial transformation via the PI3K/Akt pathway in glaucoma.
Mol Med
December 2024
Department of Ophthalmology, Ruijin Hospital Affiliated Medical School, Shanghai Jiaotong University, 197 Ruijin er Road, Shanghai, 200025, China.
Background: Glaucoma is a group of heterogeneous neurodegenerative diseases with abnormal energy metabolism and imbalanced neuroinflammation in the retina. Thioredoxin-interacting protein (TXNIP) is involved in glucose and lipid metabolism, and associated with oxidative stress and inflammation, however, not known whether to be involved in glaucoma neuropathy and its underlying mechanisms.
Methods: To establish the chronic ocular hypertension (COH) mice model.
Toxicity assessment of titanium dioxide nanoparticles on microorganisms through topological data analysis of high dimensional single-cell nanomechanical data.
Talanta
December 2024
Université de Lorraine, CNRS, LIEC, F-54000, Nancy, France.
There is a growing interest in the development of methods for the detection of nanoparticle (NP) toxicity to living organisms based on the analysis of relevant multidimensional data sets. In particular the detection of preliminary signs of NPs toxicity effects would benefit from the selection of data featuring NPs-induced alterations of biological barriers. Accordingly, we present an original Topological Data Analysis (TDA) of the nanomechanical properties of Escherichia coli cell surface, evaluated by multiparametric Atomic Force Microscopy (AFM) after exposure of the cells to increasing concentrations of titanium dioxide nanoparticles (TiONPs).
View Article and Find Full Text PDFDisseminated tumor cells in bone marrow as predictive classifiers for small cell lung cancer patients.
J Natl Cancer Cent
December 2024
Department of Medical Oncology, Beijing Chest Hospital, Capital Medical University, Beijing Tuberculosis and Thoracic Tumor Research Institute, Beijing, China.
Background: Small cell lung cancer (SCLC) is a highly aggressive disease characterized by early metastasis. Aneuploid CD31 disseminated tumor cells (DTCs) and CD31 disseminated tumor endothelial cells (DTECs) residing in the bone marrow are generally considered as the initiators of metastatic process. However, the clinical significance of DTCs and DTECs in SCLC remains poorly understood.
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