Published in Clinical case reports
We report a case with a broad spectrum of symptoms, related to GATA2 deficiency syndrome, which emerged as early as at 6 months of age. They ranged from lymphedema, deafness to myelodysplastic syndrome (MDS). © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Published in Antioxidants (Basel, Switzerland)
Noise induces oxidative stress in the cochlea followed by sensory cell death and hearing loss. The proof of principle that injections of antioxidant vitamins and Mg2+ prevent noise-induced hearing loss (NIHL) has been established. However, effectiveness of oral administration remains controversial and otoprotection mechanisms are unclear. Using aud...
Published in Acta oto-laryngologica
Although cochlear implantation (CI) is widely performed in postlingually hearing-impaired adults in the Nordic countries, the literature on hearing outcomes remains scarce. Aims/objectives: To evaluate and correlate hearing outcomes after implantation. Prospective evaluation of 40 adult first-implantation recipients pre- and post-implantation with ...
Published in BMJ Open
Introduction Little is known of the prevalence and correlates of mental and neurodevelopmental symptoms and disorders among deaf children and adolescents. Research suggests that this is a vulnerable population group at high risk of these disorders. However, little is known of correlates of prevalence estimates of these mental disorders and it seems...
Published in International Journal of Molecular Sciences
Anisotropic gap junctional coupling is a distinct feature of astrocytes in many brain regions. In the lateral superior olive (LSO), astrocytic networks are anisotropic and oriented orthogonally to the tonotopic axis. In CaV1.3 knock-out (KO) and otoferlin KO mice, where auditory brainstem nuclei are deprived from spontaneous cochlea-driven neuronal...
Published in Physiological reviews
Impairments of vision and hearing are highly prevalent conditions limiting the quality of life and presenting a major socioeconomic burden. For a long time, retinal and cochlear disorders have remained intractable for causal therapies, with sensory rehabilitation limited to glasses, hearing aids, and electrical cochlear or retinal implants. Recentl...
Published in Frontiers in Neuroscience
Studies of compensatory plasticity in early deaf (ED) individuals have mainly focused on unisensory processing, and on spatial rather than temporal coding. However, precise discrimination of the temporal relationship between stimuli is imperative for successful perception of and interaction with the complex, multimodal environment. Although the pro...
Cette année marque le 250e anniversaire de la naissance de Ludwig van Beethoven. De nombreux articles ont été écrits sur l’état de santé de ce compositeur et musicien d’exception. En particulier, ceux destinés à expliquer sa surdité progressive ont particulièrement fait verser beaucoup d’encre. Cet article ne prétend pas éclairer définitivement le ...
Published in American journal of medical genetics. Part A
A family with three affected males and a second family with a single affected male with intellectual disability, microcephaly, ophthalmoplegia, deafness, and Involuntary limb movements were reported by Schimke and Associates in 1984. The affected males with Schimke X-linked intellectual disability (XLID) syndrome (OMIM# 312840) had a similar facial...
Published in Medizinische Genetik
Usher syndrome (USH) manifests with congenital and apparently isolated hearing loss, followed by retinal degeneration in later life. Therefore, and because of its high prevalence in the congenitally hearing-impaired population, USH is one of the most relevant deafness syndromes. Next-generation sequencing (NGS)-based testing can now provide most an...
