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Incidentally Discovered Tc-MDP Uptake on Bone Scan in Otosclerosis.
Laryngoscope
November 2024
Faculty of Medicine and Dentistry, Department of Radiology and Diagnostic Imaging, University of Alberta, Edmonton, Alberta, Canada.
Otosclerosis is a poorly understood clinical entity causing progressive conductive hearing loss. Here we present the first known evidence of otosclerosis demonstrating 99mTc-MDP uptake on bone scan. This presents an opportunity to explore the role of nuclear medicine imaging in early detection, staging, and even informing treatment and prognosis of this condition.
View Article and Find Full Text PDFEvaluating calcium channel blockers and bisphosphonates as otoprotective agents in cochlear implantation hearing preservation candidates.
Cochlear Implants Int
March 2024
Department of Otolaryngology-Head and Neck Surgery, Thomas Jefferson University Hospital, Philadelphia, PA, USA.
Objectives: Evaluate potential effects of calcium channel blockers (CCB) and bisphosphonates (BP) on residual hearing following cochlear implantation.
Methods: Medications of 303 adult hearing preservation (HP) candidates (low frequency pure tone average [LFPTA] of 125, 250, and 500 Hz ≤80 dB HL) were reviewed. Postimplantation LFPTA of patients taking CCBs and BPs were compared to controls matched by age and preimplantation LFPTA.
Macrophage depletion attenuates degeneration of spiral ganglion neurons in kanamycin-induced unilateral hearing loss model.
Sci Rep
October 2023
Department of Neuroanatomy, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Ishikawa, Japan.
Pathological conditions in cochlea, such as ototoxicity, acoustic trauma, and age-related cochlear degeneration, induce cell death in the organ of Corti and degeneration of the spiral ganglion neurons (SGNs). Although macrophages play an essential role after cochlear injury, its role in the SGNs is limitedly understood. We analyzed the status of macrophage activation and neuronal damage in the spiral ganglion after kanamycin-induced unilateral hearing loss in mice.
View Article and Find Full Text PDFBisphosphonate treatment at spondylo-ocular syndrome due to a novel compound heterozygote variant in XYLT2 and review of the literature.
Am J Med Genet A
June 2023
Department of Pediatric Genetics, University of Health Sciences, Ankara City Hospital, Ankara, Turkey.
Spondylo-ocular syndrome is a rare autosomal recessive disorder characterized by generalized osteoporosis, hearing loss, visual impairment due to cataract, and platyspondyly. Previous studies have revealed that the syndrome is caused by pathogenic variants in the XYLT2 gene. A patient with spondylo-ocular syndrome and two heterozygous pathogenic variant in the XYLT2 gene in compound state are described here.
View Article and Find Full Text PDFEarly identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): Clinical characterization and response to bisphosphonate therapy.
Bone
May 2023
Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:
Introduction: Ultra-rare mendelian osteolytic disorders caused by different length in-frame activating duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) comprise familial expansile osteolysis (FEO), expansile skeletal hyperphosphatasia (ESH), early-onset familial Paget's disease of bone (PDB2), juvenile Paget's disease 2 (JPD2), and panostotic expansile bone disease (PEBD). FEO typically presents with childhood-onset deafness followed by resorption of permanent dentition, and then appendicular bone pain, fractures, and deformities from progressive focal expansile osteolytic lesions emerging from a background of generalized high bone turnover. An 18-bp duplication in TNFRSF11A has been reported in all kindreds with FEO, whereas a 12-bp duplication was found in the young man with PEBD complicated by a massive jaw tumor.
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