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Classification of Fibro-osseous Tumors in the Craniofacial Bones using DNA Methylation and Copy Number Alterations.
Mod Pathol
January 2025
Department of Pathology and Medical Biology, University Medical Center Groningen, Groningen, the Netherlands; Department of Pathology, Amsterdam University Medical Center, Amsterdam, the Netherlands. Electronic address:
Fibro-osseous tumors of the craniofacial bones are a heterogeneous group of lesions comprising cemento-osseous dysplasia (COD), cemento-ossifying fibroma (COF), juvenile trabecular ossifying fibroma (JTOF), psammomatoid ossifying fibroma (PsOF), fibrous dysplasia (FD), and low-grade osteosarcoma (LGOS) with overlapping clinicopathological features. However, their clinical behavior and treatment differ significantly, underlining the need for accurate diagnosis. Molecular diagnostic markers exist for subsets of these tumors, including GNAS mutations in FD, SATB2 fusions in PsOF, mutations involving the RAS-MAPK signaling pathway in COD, and MDM2 amplification in LGOS.
View Article and Find Full Text PDFThe role of NLRP3 inflammasome-mediated pyroptosis in astrocytes during hyperoxia-induced brain injury.
Inflamm Res
January 2025
Department of Ultrasound, The Second Xiangya Hospital of Central South University, Changsha, 410011, China.
Background: Hyperoxia-induced brain injury is a severe neurological complication that is often accompanied by adverse long-term prognosis. The pathogenesis of hyperoxia-induced brain injury is highly complex, with neuroinflammation playing a crucial role. The activation of the nucleotide-binding oligomerization domain-like receptor protein 3 (NLRP3) inflammasome, which plays a pivotal role in regulating and amplifying the inflammatory response, is the pathological core of hyperoxia-induced brain injury.
View Article and Find Full Text PDFSurface Electromyographic Activities of Submental and Infrahyoid Muscles: Comparisons Based on Residue, Penetration and Aspiration.
J Oral Rehabil
January 2025
Department of Otolaryngology-Head and Neck Surgery, Faculty of Medicine, Gazi University, Ankara, Turkey.
Background: Surface electromyography (sEMG) has been used in a wide range of studies conducted in the field of dysphagia.
Objectives: The main aim of this case-control study is to obtain how submental and infrahyoid sEMG signals differ based on residue, penetration and aspiration.
Methods: A total of 100 participants (50 patients with suspected dysphagia and 50 healthy controls) were enrolled in the present study.
Velopharyngeal Insufficiency and Impaired Tongue Movement Indicate Neuromuscular Disorders: A 10-Year Statistical Study in a Single Tertiary Institution.
J Clin Med
January 2025
Department of Otolaryngology, and Head and Neck Surgery, Faculty of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.
: This study aimed to determine the positive predictive value of our NMD Suspicion Criteria in the diagnosis of NMDs. Other clinical factors routinely examined in our voice and swallowing examinations were also investigated to see if they had a significant association with the diagnosis of NMDs. : This study retrospectively investigated the medical charts of patients who visited our Voice and Swallowing outpatient clinic between 2013 and 2022.
View Article and Find Full Text PDFSomatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.
Int J Mol Sci
January 2025
Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.
Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both counseling and treatment decisions. Both somatic and germline DNA variants may contribute to the lesion itself and/or influence the severity of symptoms.
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