Publications by authors named "D Ozieblo"
Zebrafish in-vivo study reveals deleterious activity of human TBC1D24 genetic variants linked with autosomal dominant hearing loss.
Biochim Biophys Acta Mol Basis Dis
February 2025
Article Synopsis
- Genetic variants in the TBC1D24 gene are linked to non-syndromic autosomal dominant hearing loss (ADHL), but their molecular mechanisms remain unclear.
- Researchers used zebrafish to study TBC1D24's role in hearing and how specific harmful mutations affect its function.
- Experiment results showed that knocking down TBC1D24 led to ear structure defects and movement issues in zebrafish embryos, with harmful mutations interfering more than normal gene expression, thus pinpointing TBC1D24's critical role in inner ear development and ciliary function.
Article Synopsis
- - Childhood hearing impairment can arise from various external factors, not including infections in the middle ear.
- - Some key causes include conditions affecting the embryo and fetus (embryofoetopathy), meningitis, physical injuries (trauma), harmful effects from medications (drug ototoxicity), and exposure to loud sounds (noise trauma).
- - Understanding these extrinsic causes is crucial for prevention and treatment strategies in managing hearing loss in children.
Background: Low-frequency non-syndromic hearing loss (LFNSHL) is a rare form of hearing loss (HL). It is defined as HL at low frequencies (≤2,000 Hz) resulting in a characteristic ascending audiogram. LFNSHL is usually diagnosed postlingually and is progressive, leading to HL affecting other frequencies as well.
View Article and Find Full Text PDFMMP-9 plasma level as biomarker of cochlear implantation outcome in cohort study of deaf children.
Eur Arch Otorhinolaryngol
October 2023
Purpose: If before cochlear implantation it was possible to assay biomarkers of neuroplasticity, we might be able to identify those children with congenital deafness who, later on, were at risk of poor speech and language rehabilitation outcomes.
Methods: A group of 40 children aged up to 2 years with DFNB1-related congenital deafness was observed in this prospective cohort study over three follow-up intervals (0, 8, and 18 months) after cochlear implant (CI) activation. Children were assessed for auditory development using the LittlEARS Questionnaire (LEAQ) score, and at the same time, measurements were made of matrix metalloproteinase-9 (MMP-9) plasma levels.
Congenitally deaf children who undergo cochlear implantation before 1 year of age develop their auditory skills faster than children who are implanted later. In this longitudinal study, a cohort of 59 implanted children were divided into two subgroups according to their ages at implantation-below or above 1 year old-and the plasma levels of matrix metalloproteinase-9 (MMP-9), brain-derived neurotrophic factor (BDNF), and pro-BDNF were measured at 0, 8, and 18 months after cochlear implant activation, while auditory development was simultaneously evaluated using the LittlEARs Questionnaire (LEAQ). A control group consisted of 49 age-matched healthy children.
View Article and Find Full Text PDF