Results 31 to 40 of about 334,678 (236)
Degeneration of saccular hair cells caused by MITF gene mutation
Neural Development, 2019 Background Waardenburg syndrome (WS) is the consequence of an inherited autosomal dominant mutation which causes the early degeneration of intermediate cells of cochlear stria vascularis (SV) and profound hearing loss.
Yi Du +9 more
doaj +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu +10 more
wiley +1 more source
Life, 2022 The Bonebridge implant can be a satisfactory solution for patients with conductive or mixed hearing loss (CHL or MHL), or with single-sided deafness (SSD).
Anna Ratuszniak +3 more
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla +13 more
wiley +1 more source
Case Reports in OtolaryngologyConclusion: We presented a successful case of surgical resection of a chondroblastoma in the anterior skull base. Additionally, we reviewed the existing literature and previously documented cases.
Mohsen Fazli +7 more
doaj +1 more source
Finnish Journal of eHealth and eWelfare, 2023 Hearing is a sense, which has a significant impact on a child’s development. Disorders connected with hearing can have impact in a various form and affect each area of life.
Piotr Henryk Skarżynski +3 more
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective We aimed to test the efficacy of personalized treatment of older veterans with chronic low back pain (CLBP) delivered by Aging Back Clinics (ABCs) as compared with usual care (UC). Methods Two hundred ninety‐nine veterans aged 65 to 89 with CLBP from three Veterans Affairs (VA) medical centers underwent baseline testing, randomization to ABC ...
Debra K. Weiner +9 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective A patient‐centered approach for chronic disease management, including systemic lupus erythematosus (SLE), aligns treatment with patients’ values and preferences, leading to improved outcomes. This paper summarizes how patient experiences, perspectives, and priorities informed the American College of Rheumatology (ACR) 2024 Lupus Nephritis (LN)
Shivani Garg +20 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Relapsing polychondritis (RP) is a rare disease defined by recurrent cartilaginous inflammation. Anti–collagen II (Col2) antibodies have been proposed as a diagnostic biomarker for RP, but their performance characteristics are not well defined.
Karyssa Stonick +6 more
wiley +1 more source