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https://www.readbyqxmd.com/read/29674316/activation-of-renal-clc-k-chloride-channels-depends-on-an-intact-n-terminus-of-their-accessory-subunit-barttin
#1
Daniel Wojciechowski, Stefan Thiemann, Christina Schaal, Alina Rahtz, Jeanne de la Roche, Birgit Begemann, Toni Becher, Martin Fischer
ClC-K channels belong to the CLC family of chloride channels and chloride/proton antiporters. They contribute to sodium chloride reabsorption in Henle's loop of the kidney and to potassium secretion into the endolymph by the stria vascularis of the inner ear. Their accessory subunit barttin stabilizes the ClC-K/barttin complex, promotes its insertion into the surface membrane, and turns the pore-forming subunits into a conductive state. Barttin mutations cause Bartter syndrome type IV, a salt wasting nephropathy with sensorineural deafness...
April 19, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29672729/morphology-instruction-in-the-science-classroom-for-students-who-are-deaf-a-multiple-probe-across-content-analysis
#2
Jessica W Trussell, Jason Nordhaus, Alison Brusehaber, Brittany Amari
Deaf and hard-of-hearing (DHH) students have exhibited a morphological knowledge delay that begins in preschool and persists through college. Morphological knowledge is critical to vocabulary understanding and text comprehension in the science classroom. We investigated the effects of morphological instruction, commonly referred to as Word Detectives, on the morphological knowledge of college-age DHH students in a science course. We implemented a multiple probe across behaviors single-case experimental design study with nine student participants...
April 17, 2018: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/29672722/parent-couples-coping-resources-and-involvement-in-their-children-s-intervention-program
#3
Devora Brand, Anat Zaidman-Zait, Tova Most
Parental involvement is vital to the implementation of intervention programs for deaf and hard-of-hearing (DHH) children. The current study examined the dyadic relationships between mothers' and fathers' coping resources and their involvement in their child's intervention program. In addition, the moderating roles of parent's gender and family religiosity on the associations between coping resources and involvement were examined. Seventy Jewish couples of parents of DHH children, representing various levels of religiosity, completed questionnaires regarding involvement in their child's intervention program, child acceptance, parental self-efficacy, and perceived social support...
April 17, 2018: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/29671643/differences-in-praxis-performance-and-receptive-language-during-fingerspelling-between-deaf-children-with-and-without-autism-spectrum-disorder
#4
Anjana N Bhat, Sudha M Srinivasan, Colleen Woxholdt, Aaron Shield
Children with autism spectrum disorder present with a variety of social communication deficits such as atypicalities in social gaze and verbal and non-verbal communication delays as well as perceptuo-motor deficits like motor incoordination and dyspraxia. In this study, we had the unique opportunity to study praxis performance in deaf children with and without autism spectrum disorder in a fingerspelling context using American Sign Language. A total of 11 deaf children with autism spectrum disorder and 11 typically developing deaf children aged between 5 and 14 years completed a fingerspelling task...
April 2018: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29666984/unusual-white-matter-involvement-in-east-syndrome-associated-with-novel-kcnj10-mutations
#5
Mariasavina Severino, Susanna Lualdi, Chiara Fiorillo, Pasquale Striano, Teresa De Toni, Silvio Peluso, Giuseppe De Michele, Andrea Rossi, Mirella Filocamo, Claudio Bruno
BACKGROUND: Epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) is a rare channelopathy due to KCNJ10 mutations. So far, only mild cerebellar hypoplasia and/or dentate nuclei abnormalities have been reported as major neuroimaging findings in these patients. METHODS: We analyzed the clinical and brain MRI features of two unrelated patients (aged 27 and 23 years) with EAST syndrome carrying novel homozygous frameshift mutations (p.Asn232Glnfs*14and p...
April 17, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29665173/a-novel-gjb2-compound-heterozygous-mutation-c-257c-g-p-t86r-c-176del16-p-g59a-fs-18-causes-sensorineural-hearing-loss-in-a-chinese-family
#6
Xi Shi, Yan Zhang, Shiwei Qiu, Wei Zhuang, Na Yuan, Tiantian Sun, Jian Gao, Yuehua Qiao, Ke Liu
OBJECTIVE: To investigate whether a novel compound heterozygous mutations c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) in GJB2 result in hearing loss. METHODS: Allele-specific PCR-based universal array (ASPUA) screening and sequence analysis were applied to identify these mutations. 3D model was built to perform molecular dynamics (MD) simulation to verify the susceptibility of the mutations. Furthermore, WT- and Mut-GJB2 DNA fragments, containing the mutation of c...
April 17, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29663634/barakat-syndrome-revisited
#7
Amin J Barakat, Margarita Raygada, Owen M Rennert
Barakat syndrome also known as HDR syndrome (Online Mendelian Inheritance in Man [OMIM] 146255), was first described by Barakat et al. in . It is a rare genetic disorder characterized by the triad of hypoparathyroidism "H," sensorineural deafness "D," and renal disease "R." The defect is caused by deletions in chromosome 10p14 or mutations in the GATA3 gene. Although the syndrome has been phenotypically defined by this triad the literature identifies cases with different components with, or without GATA3 defects making the definition of the syndrome confusing...
April 16, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29660808/longitudinal-theory-of-mind-tom-development-from-preschool-to-adolescence-with-and-without-tom-delay
#8
Candida C Peterson, Henry M Wellman
Longitudinal tracking of 107 three- to-thirteen-year-olds in a cross-sequential design showed a 6-step theory of mind (ToM) sequence identified by a few past cross-sectional studies validly depicted longitudinal ToM development from early to middle childhood for typically developing (TD) children and those with ToM delays owing to deafness or autism. Substantively, all groups showed ToM progress throughout middle childhood. Atypical development was more extended and began and ended at lower levels than for TD children...
April 16, 2018: Child Development
https://www.readbyqxmd.com/read/29660589/predicting-reading-ability-in-teenagers-who-are-deaf-or-hard-of-hearing-a-longitudinal-analysis-of-language-and-reading
#9
Sarah Worsfold, Merle Mahon, Hannah Pimperton, Jim Stevenson, Colin Kennedy
BACKGROUND: Deaf and hard of hearing (D/HH) children and young people are known to show group-level deficits in spoken language and reading abilities relative to their hearing peers. However, there is little evidence on the longitudinal predictive relationships between language and reading in this population. AIMS: To determine the extent to which differences in spoken language ability in childhood predict reading ability in D/HH adolescents. METHODS: and procedures: Participants were drawn from a population-based cohort study and comprised 53 D/HH teenagers, who used spoken language, and a comparison group of 38 normally hearing teenagers...
April 13, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29659894/usability-of-american-sign-language-videos-for-presenting-mathematics-assessment-content
#10
Eric G Hansen, Ruth C Loew, Cara C Laitusis, Poorna Kushalnagar, Claudia M Pagliaro, Christopher Kurz
There is considerable interest in determining whether high-quality American Sign Language videos can be used as an accommodation in tests of mathematics at both K-12 and postsecondary levels; and in learning more about the usability (e.g., comprehensibility) of ASL videos with two different types of signers - avatar (animated figure) and human. The researchers describe the results of administering each of nine pre-college mathematics items in both avatar and human versions to each of 31 Deaf participants with high school and post-high school backgrounds...
April 12, 2018: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/29659103/real-time-lexical-comprehension-in-young-children-learning-american-sign-language
#11
Kyle MacDonald, Todd LaMarr, David Corina, Virginia A Marchman, Anne Fernald
When children interpret spoken language in real time, linguistic information drives rapid shifts in visual attention to objects in the visual world. This language-vision interaction can provide insights into children's developing efficiency in language comprehension. But how does language influence visual attention when the linguistic signal and the visual world are both processed via the visual channel? Here, we measured eye movements during real-time comprehension of a visual-manual language, American Sign Language (ASL), by 29 native ASL-learning children (16-53 mos, 16 deaf, 13 hearing) and 16 fluent deaf adult signers...
April 16, 2018: Developmental Science
https://www.readbyqxmd.com/read/29655975/vestibular-and-balance-function-is-often-impaired-in-children-with-profound-unilateral-sensorineural-hearing-loss
#12
Meirav Sokolov, Karen A Gordon, Melissa Polonenko, Susan I Blaser, Blake C Papsin, Sharon L Cushing
RATIONALE: Children with unilateral deafness could have concurrent vestibular dysfunction which would be associated with balance deficits and potentially impair overall development. The prevalence of vestibular and balance deficits remains to be defined in these children. METHODS: Twenty children with unilateral deafness underwent comprehensive vestibular and balance evaluation. RESULTS: Retrospective review revealed that more than half of the cohort demonstrated some abnormality of the vestibular end organs (otoliths and horizontal canal), with the prevalence of end organ specific dysfunction ranging from 17 to 48% depending on organ tested and method used...
April 3, 2018: Hearing Research
https://www.readbyqxmd.com/read/29655659/a-v1143f-mutation-in-the-neuronal-enriched-isoform-2-of-the-pmca-pump-is-linked-with-ataxia
#13
Mattia Vicario, Ginevra Zanni, Francesca Vallese, Filippo Santorelli, Alessandro Grinzato, Domenico Cieri, Paola Berto, Martina Frizzarin, Raffaele Lopreiato, Francesco Zonta, Stefania Ferro, Michele Sandre, Oriano Marin, Maria Ruzzene, Enrico Bertini, Giuseppe Zanotti, Marisa Brini, Tito Calì, Ernesto Carafoli
The fine regulation of intracellular calcium is fundamental for all eukaryotic cells. In neurons, Ca2+ oscillations govern the synaptic development, the release of neurotransmitters and the expression of several genes. Alterations of Ca2+ homeostasis were found to play a pivotal role in neurodegenerative progression. The maintenance of proper Ca2+ signaling in neurons demands the continuous activity of Ca2+ pumps and exchangers to guarantee physiological cytosolic concentration of the cation. The plasma membrane Ca2+ ATPases (PMCA pumps) play a key role in the regulation of Ca2+ handling in selected sub-plasma membrane microdomains...
April 12, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29652555/henry-herbert-donaldson-s-1857-1938-contribution-to-an-organized-approach-to-the-experimental-study-of-the-mammalian-central-nervous-system
#14
J Wayne Lazar
This article shows that the academic and research careers of Henry Herbert Donaldson (1857-1938) were directed to provide basic information about the growth of the vertebrate nervous system and to provide standards and the means to make such research efficient. He earned the reputation of making the albino rat a standard laboratory animal. His academic career began when he was an undergraduate at Yale University in 1875 and concluded with his death as Professor and Head of the Department of Neurology at the Wistar Institute of Anatomy and Biology of the University of Pennsylvania in 1938...
April 13, 2018: Journal of the History of the Neurosciences
https://www.readbyqxmd.com/read/29650304/the-design-and-validation-of-a-hybrid-digital-signal-processing-plug-in-for-traditional-cochlear-implant-speech-processors
#15
Fatemeh Hajiaghababa, Hamid R Marateb, Saeed Kermani
BACKGROUND AND OBJECTIVE: Cochlear implants (CIs) are electronic devices restoring partial hearing to deaf individuals with profound hearing loss. In this paper, a new plug-in for traditional IIR filter-banks (FBs) is presented for cochlear implants based on wavelet neural networks (WNNs). Having provided such a plug-in for commercially available CIs, it is possible not only to use available hardware in the market but also to optimize their performance compared with the-state-of-the-art...
June 2018: Computer Methods and Programs in Biomedicine
https://www.readbyqxmd.com/read/29643172/the-syndromic-deafness-mutation-g12r-impairs-fast-and-slow-gating-in-cx26-hemichannels
#16
Isaac E García, Felipe Villanelo, Gustavo F Contreras, Amaury Pupo, Bernardo I Pinto, Jorge E Contreras, Tomás Pérez-Acle, Osvaldo Alvarez, Ramon Latorre, Agustín D Martínez, Carlos González
Mutations in connexin 26 (Cx26) hemichannels can lead to syndromic deafness that affects the cochlea and skin. These mutations lead to gain-of-function hemichannel phenotypes by unknown molecular mechanisms. In this study, we investigate the biophysical properties of the syndromic mutant Cx26G12R (G12R). Unlike wild-type Cx26, G12R macroscopic hemichannel currents do not saturate upon depolarization, and deactivation is faster during hyperpolarization, suggesting that these channels have impaired fast and slow gating...
April 11, 2018: Journal of General Physiology
https://www.readbyqxmd.com/read/29629332/extent-of-awareness-regarding-oral-health-and-dental-treatment-needs-among-individuals-with-hearing-and-speech-impairments-in-saudi-arabia
#17
Mohammed Mustafa, Faris Yahya I Asiri, Shahad AlGhannam, Ibrahim Ali Mohammed AlQarni, Mohammed Abdullah AlAteeg, Sukumaran Anil
Objective: This study aims to evaluate the awareness level of the individuals with hearing and speech impairments (deaf and dumb individuals), in relation to their oral health and dental treatment needs. Materials and Methods: The approach of stratified randomization method of sampling was used for the selection of participants. About 240 people with hearing and speech impairments (deaf and dumb) were selected from four cities of Saudi Arabia, which includes AlKharj, Riyadh, Dammam and Abha...
January 2018: Journal of International Society of Preventive & Community Dentistry
https://www.readbyqxmd.com/read/29628052/promoting-best-practice-for-perinatal-care-of-deaf-women
#18
REVIEW
Lori J Hubbard, Elizabeth D'Andrea, Luke A Carman
To evaluate perinatal nursing care for Deaf women, we conducted a pilot, descriptive study exploring women's prenatal, labor, and postpartum experiences. We used the Quality and Safety Education for Nurses (QSEN) framework to analyze women's responses and to explore implications for practice. Themes and women's stories are presented within the QSEN structure to promote informed and individualized perinatal nursing care for Deaf families. It is essential for nurses to stay abreast of resources and technological advances and to use culturally competent principles of communication...
April 2018: Nursing for Women's Health
https://www.readbyqxmd.com/read/29627484/subject-preference-emerges-as-cross-modal-strategy-for-linguistic-processing
#19
Julia Krebs, Evie Malaia, Ronnie B Wilbur, Dietmar Roehm
Research on spoken languages has identified a "subject preference" processing strategy for tackling input that is syntactically ambiguous as to whether a sentence-initial NP is a subject or object. The present study documents that the "subject preference" strategy is also seen in the processing of a sign language, supporting the hypothesis that the "subject"-first is universal and not dependent on the language modality (spoken vs. signed). Deaf signers of Austrian Sign Language (ÖGS) were shown videos of locally ambiguous signed sentences in SOV and OSV word orders...
April 5, 2018: Brain Research
https://www.readbyqxmd.com/read/29625443/comprehensive-molecular-screening-in-chinese-usher-syndrome-patients
#20
Tengyang Sun, Ke Xu, Yanfan Ren, Yue Xie, Xiaohui Zhang, Lu Tian, Yang Li
Purpose: Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. The objectives of this study were to determine the mutation spectrum in a cohort of Chinese patients with USH and to describe the clinical features of the patients with mutations. Methods: A total of 119 probands who were clinically diagnosed with USH were recruited for genetic analysis. All probands underwent ophthalmic examinations. A combination of molecular screening methods, including targeted next-generation sequencing, Sanger-DNA sequencing, and multiplex ligation probe amplification assay, was used to detect mutations...
March 1, 2018: Investigative Ophthalmology & Visual Science
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