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Gain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment.
Acta Neuropathol Commun
January 2025
Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College (PUMC) and Chinese Academy of Medical Science (CAMS), Beijing, China.
Mutations in the ANXA11 gene, encoding an RNA-binding protein, have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), but the underlying in vivo mechanisms remain unclear. This study examines the clinical features of ALS patients harboring the ANXA11 hotspot mutation p.P36R, characterized by late-onset motor neuron disease and occasional multi-system involvement.
View Article and Find Full Text PDFSurgical excision of symptomatic lateral band snapping syndrome in small finger proximal interphalangeal joint.
BMJ Case Rep
January 2025
Orthopedic Surgery, OhioHealth, Columbus, Ohio, USA.
Lateral band snapping syndrome can be a debilitating condition involving the proximal interphalangeal (PIP) joint of the fingers. Although rare, it is thought to occur due to disruption of the finger extensor mechanism allowing inappropriate subluxation of the lateral bands over the PIP joint, leading to mechanical and painful symptoms.Here, we describe a woman in her early 40s with a painful, snapping PIP joint secondary to a work-related injury.
View Article and Find Full Text PDF[Pneumomediastinum as a rare complication in connective tissue disease].
Rev Mal Respir
January 2025
Service de médecine interne, hôpital Habib Thameur, faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.
Otherwise known as mediastinal emphysema, pneumomediastinum (PNM) in connective tissue diseases is a rare clinical entity. Few cases have been described in the literature. In fact, it only exceptionally complicates the evolution of connective tissue diseases.
View Article and Find Full Text PDFSingle-nucleus transcriptome profiling provides insights into the pathophysiology of adhesive arachnoiditis.
Biochim Biophys Acta Mol Basis Dis
January 2025
Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing 100053, China. Electronic address:
Adhesive arachnoiditis (AA) is a rare form of chronic degenerative pathology associated with persistent inflammation in the arachnoid matter of the spinal cord. Despite the existing knowledge, the detailed pathological mechanisms underlying AA are not fully understood. This study aimed to elucidate through comprehensive single nuclei RNA sequencing (snRNA-seq) to delineate the transcriptomic landscape of AA.
View Article and Find Full Text PDFInterface Modification by GaO Atomic Layers within Er-Doped GeO Nanofilms for Enhanced Electroluminescence and Operation Stability.
ACS Appl Mater Interfaces
January 2025
School of Materials Science and Engineering, Tianjin Key Lab for Rare Earth Materials and Applications, Nankai University, Tianjin 300350, China.
For silicon-based devices using dielectric oxides doped with rare earth ions, their electroluminescence (EL) performance relies on the sufficient carrier injection. In this work, the atomic GaO layers are inserted within the Er-doped GeO nanofilms fabricated by atomic layer deposition (ALD). Both Ga(CH) and Ga(CH) could realize the ALD growth of GaO onto the as-deposited GeO nanofilm with unaffected deposition rates.
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