Search results for "Deaf"
showing 10 items of 104 documents
New approach to generating insights for aging research based on literature mining and knowledge integration.
2017
The proportion of the elderly population in most countries worldwide is increasing dramatically. Therefore, social interest in the fields of health, longevity, and anti-aging has been increasing as well. However, the basic research results obtained from a reductionist approach in biology and a bioinformatic approach in genome science have limited usefulness for generating insights on future health, longevity, and anti-aging-related research on a case by case basis. We propose a new approach that uses our literature mining technique and bioinformatics, which lead to a better perspective on research trends by providing an expanded knowledge base to work from. We demonstrate that our approach …
Electrical activity controls area-specific expression of neuronal apoptosis in the mouse developing cerebral cortex
2017
Programmed cell death widely but heterogeneously affects the developing brain, causing the loss of up to 50% of neurons in rodents. However, whether this heterogeneity originates from neuronal identity and/or network-dependent processes is unknown. Here, we report that the primary motor cortex (M1) and primary somatosensory cortex (S1), two adjacent but functionally distinct areas, display striking differences in density of apoptotic neurons during the early postnatal period. These differences in rate of apoptosis negatively correlate with region-dependent levels of activity. Disrupting this activity either pharmacologically or by electrical stimulation alters the spatial pattern of apoptos…
Das Usher-Syndrom, eine Ziliopathie des Menschen
2018
ZusammenfassungDas humane Usher-Syndrom (USH) ist eine seltene, komplexe genetische Erkrankung, die sich in kombinierter Taubblindheit manifestiert. Aufgrund der Ausprägung des Krankheitsbilds werden 3 klinische Typen (USH1 – 3) unterschieden. Für eine korrekte Diagnose sind zusätzlich zu den auditorischen Tests im Zuge des Neugeborenenscreens auch frühe ophthalmologische Untersuchungen und eine molekulargenetische Abklärung notwendig. Die bislang 10 bekannten USH-Gene codieren für heterogene Proteine, die in Proteinnetzwerken miteinander in Funktionseinheiten kooperieren. Im Auge und im Ohr werden USH-Proteine vor allem in den mechanosensitiven Haarsinneszellen und den Stäbchen- und Zapfen…
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
2019
Supplemental Digital Content is available in the text.
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…
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…
Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominan…
2017
Background Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). Methods Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome. Results A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively. Quantitative readout reliably detected CNVs (confirmed by MLPA or array-CGH), qualifying targeted NGS as one …
“Do you understand (me)?” negotiating mutual understanding by using gaze and environmentally coupled gestures between two deaf signing participants
2020
Abstract In this paper we explore the use of multimodal and multilingual semiotic resources in interactions between two deaf signing participants, a researcher and an asylum seeker. The focus is on the use of gaze and environmentally coupled gestures. Drawing on multimodal analysis and linguistic ethnography, we demonstrate how gaze and environmentally coupled gestures are effective semiotic resources for reaching mutual understanding. The study provides insight into the challenges and opportunities (deaf) asylum seekers, researchers, and employees of reception centres or the state may encounter because of the asymmetrical language competencies. Our concern is that such asymmetrical situati…
Acceptance and Commitment Therapy Using Finnish Sign Language : Training Counselors in Signed ACT for the Deaf. A Pilot Study
2018
This study evaluated the implementation of Acceptance and Commitment Therapy in Finnish Sign Language in a rehabilitation center for deaf people. Sixteen (16) clients and nine (9) staff members participated in this pilot study. Staff members received a brief training in Acceptance and Commitment Therapy (ACT) including 16 h lectures, 15 h supervision, and studying material. Each staff member treated 1–2 clients during 8–10 sessions. As part of the study, several ACT metaphors and exercises were translated into Finnish Sign Language. The study indicated that counselors with limited knowledge of psychological interventions were able to deliver an ACT intervention using Finnish Sign Language a…
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 …