Search results for "Earing"
showing 10 items of 867 documents
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
2020
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogen…
Usefulness of current candidate genetic markers to identify childhood cancer patients at risk for platinum-induced ototoxicity: Results of the Europe…
2020
Background Irreversible sensorineural hearing loss is a common side effect of platinum treatment with the potential to significantly impair the neurocognitive, social and educational development of childhood cancer survivors. Genetic association studies suggest a genetic predisposition for cisplatin-induced ototoxicity. Among other candidate genes, thiopurine methyltransferase (TPMT) is considered a critical gene for susceptibility to cisplatin-induced hearing loss in the FDA drug label and a pharmacogenetic guideline. The aim of this cross-sectional cohort study was to confirm the genetic associations in a large pan-European population and to evaluate the diagnostic accuracy of the genetic…
A survey of clearing techniques for 3D imaging of tissues with special reference to connective tissue
2016
AbstractFor 3-dimensional (3D) imaging of a tissue, 3 methodological steps are essential and their successful application depends on specific characteristics of the type of tissue. The steps are 1° clearing of the opaque tissue to render it transparent for microscopy, 2° fluorescence labeling of the tissues and 3° 3D imaging. In the past decades, new methodologies were introduced for the clearing steps with their specific advantages and disadvantages. Most clearing techniques have been applied to the central nervous system and other organs that contain relatively low amounts of connective tissue including extracellular matrix. However, tissues that contain large amounts of extracellular mat…
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
2018
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K+ channel found in the brain, inner ear, kidney and eye. To date, 16 mutations and at least 28 patients have been reported. In this paper, we review mutations causing EAST/SeSAME syndrome, clinical manifestations in detail, and efficacy of treatment in previously reported patients. We also report a new Latvian kindred with 4 patients. In co…
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
2016
Objective PDZD7 was identified in 2009 in a family with apparent nonsyndromic sensorineural hearing loss. However, subsequent clinical reports have associated PDZD7 with digenic Usher syndrome, the most common cause of deaf-blindness, or as a modifier of retinal disease. No further reports have validated this gene for nonsyndromic hearing loss, intuitively calling correct genotype-phenotype association into question. This report describes a validating second case for biallelic mutations in PDZD7 causing nonsyndromic mild to severe sensorineural hearing loss. It also provides detailed audiometric and ophthalmologic data excluding Usher syndrome in both the present proband (proband 1) and the…
Absence of Early Neuronal Death in the Olivocochlear System Following Acoustic Overstimulation
2015
This study was conducted to examine possible effects of noise trauma on olivocochlear (OC) neurons. Anesthetized rats were exposed to a continuous 10 kHz pure tone at 120 dB sound pressure level for 2 hrs. The effects of treatment were verified by recordings of auditory brainstem response and distortion product otoacoustic emission. Three or 8 days after acoustic trauma, rats received unilateral injections of an aqueous solution of the retrograde neuronal tracer Fluorogold (FG) into the scala tympani to identify OC neurons (OCN). Five days after FG injection, brains were perfusion-fixed, and brainstem sections were cut and analyzed with respect to FG-labeled neurons. We found that, in both …
An Efficient Cooperative Smearing Technique for Degraded Historical Documents Images Segmentation
2020
Segmentation is one of the critical steps in historical document image analysis systems that determines the quality of the search, understanding, recognition and interpretation processes. It allows isolating the objects to be considered and separating the regions of interest (paragraphs, lines, words and characters) from other entities (figures, graphs, tables, etc.). This stage follows the thresholding, which aims to improve the quality of the document and to extract its background from its foreground, also for detecting and correcting the skew that leads to redress the document. Here, a hybrid method is proposed in order to locate words and characters in both handwritten and printed docu…
Assessing Vocabulary in Deaf and Hearing Children using Finnish Sign Language.
2020
Abstract This study investigates children’s vocabulary knowledge in Finnish Sign Language (FinSL), specifically their understanding of different form-meaning mappings by using a multilayered assessment format originally developed for British Sign Language (BSL). The web-based BSL vocabulary test by Mann (2009) was adapted for FinSL following the steps outlined by Mann, Roy and Morgan (2016) and piloted with a small group of deaf and hearing native signers (N = 24). Findings showed a hierarchy of difficulty between the tasks, which is concordant with results reported previously for BSL and American Sign Language (ASL). Additionally, the reported psychometric properties of the FinSL vocabular…
Using evaluation criteria and rubrics as learning tools in subtitling for the D/deaf and the hard of hearing
2018
This paper focuses on the use of evaluation criteria and rubrics as tools for training in an audiovisual translation mode: subtitling for the D/deaf and the hard of hearing (SDH). Following an introduction to the current conception of and research carried out on quality assurance and assessment both in the translation industry and academia, a brief overview of the assessment processes and instruments used in SDH university training and in the professional sector is provided. This is followed by a case study of SDH assessment practices in Spain. Two questionnaires were filled in by five service providers and 12 university trainers, and the data gathered has enabled a better understanding of …
A Guide to Perform 3D Histology of Biological Tissues with Fluorescence Microscopy
2023
The analysis of histological alterations in all types of tissue is of primary importance in pathology for highly accurate and robust diagnosis. Recent advances in tissue clearing and fluorescence microscopy made the study of the anatomy of biological tissue possible in three dimensions. The combination of these techniques with classical hematoxylin and eosin (H&E) staining has led to the birth of three-dimensional (3D) histology. Here, we present an overview of the state-of-the-art methods, highlighting the optimal combinations of different clearing methods and advanced fluorescence microscopy techniques for the investigation of all types of biological tissues. We employed fluorescence …