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research Novel Association of Trichothiodystrophy With Autoimmune Thyroiditis and Autoimmune Hemolytic Anemia: A Case Report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Telogen Hair Loss and Androgenetic-Like Alopecia in GAPO Syndrome
A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
research Alterations in Nasal Mucociliary Activity in Polycystic Ovary Syndrome
Women with PCOS may have a higher risk of respiratory and ear infections due to slower nasal mucociliary clearance.
research Development of Gene Therapy for Inner Ear Disease: Using Bilateral Vestibular Hypofunction as a Vehicle for Translational Research
Gene therapy, especially using atoh1, shows promise for creating functional sensory hair cells in the inner ear, but dosing and side effects need to be managed for clinical application.
research Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Audiological Abnormalities in Patients with Alopecia Areata
People with alopecia areata may be more likely to have a certain type of hearing loss.
research Case Series of Selenium Toxicity from a Nutritional Supplement
Excessive selenium from a supplement caused toxicity but patients recovered with care.
research Neoadjuvant Therapy With Disitamab Vedotin in Treating Muscle-Invasive Bladder Cancer: A Case Report
Disitamab vedotin and gemcitabine effectively treated bladder cancer without major side effects.
research CaBP1 and 2 Enable Sustained CaV1.3 Calcium Currents and Synaptic Transmission in Inner Hair Cells
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
research The Role of Nrf2 in Hearing Loss
Activating Nrf2 can help protect against hearing loss.
research Carotid Body Tumor: Review of the Literature and Report of a Case With Rare Sensorineural Symptomatology
A man's rare tumor caused unusual nerve-related symptoms that improved after surgery.
research Rapamycin But Not Acarbose Decreases Age-Related Loss of Outer Hair Cells in the Mouse Cochlea
Rapamycin reduces age-related hearing cell loss in mice, but acarbose does not.