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https://www.readbyqxmd.com/read/28927231/leadership-succession-future-proofing-pipelines
#1
Saul Taylor, Howard Youngs
The challenges in deaf education illustrate the requirement and importance of leadership in this specialized field. The significant and impending talent depletion unfolding as baby-boomers retire, positions leadership succession planning as a strategic issue. This mixed methods study is the first of its kind in New Zealand. The aim is to understand leadership demographics and assumptions to determine the need for strategic succession planning to identify and address leaky pipelines. The findings from 82% of the deaf education workforce through a questionnaire and interviews with seven senior leaders reveal that senior leaders do not appear aware of four key areas that dissuade and shrink the pool of potential leadership aspirants...
September 12, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/28926334/family-phenotypic-heterogeneity-caused-by-mitochondrial-dna-mutation-a3243g
#2
Daniela Alves, Maria Eufémia Calmeiro, Carmo Macário, Rosa Silva
Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge...
August 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28925492/detection-of-hereditary-hearing-loss-gene-by-dna-microarray
#3
G-Y Han, Z Xu, Q-S Li, H-Y Shen, W Zhang, J Liang
OBJECTIVE: Screening genes in patients suffering clinically sporadic deafness, using DNA microarray, and evaluating the application value of the clinical detection. PATIENTS AND METHODS: DNA extracted from patients' venous blood was amplified by PCR, and hybridization was carried out in a myriad class clean room. Nine mutation sites of four deaf genes commonly seen in Chinese people were tested. RESULTS: Among 24 patients, 7 cases with mutations were detected, with a positive rate of 29...
August 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28922984/cortical-auditory-evoked-potential-caep-and-behavioural-measures-of-auditory-function-in-a-child-with-a-single-sided-deafness
#4
Oscar M Cañete, Suzanne C Purdy, Michel Neeff, Colin R S Brown, Peter R Thorne
OBJECTIVES: To study the changes in behavioural and cortical responses over time in a child with single-sided deafness fitted with a cochlear implant (CI). METHODS: Cortical auditory evoked potentials (CAEPs) in noise (+5 dB signal-to-noise ratio) were recorded and auditory skills were assessed using tests of sound localization, spatial speech perception in noise, and self-ratings of auditory abilities (Listening inventory for education, LIFE and Speech, spatial and qualities of hearing questionnaire, SSQ parental version)...
September 19, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28917982/connexin-hemichannels-and-cochlear-function
#5
REVIEW
Vytas K Verselis
Connexins play vital roles in hearing, including promoting cochlear development and sustaining auditory function in the mature cochlea. Mutations in connexins expressed in the cochlear epithelium, Cx26 and Cx30, cause sensorineural deafness and in the case of Cx26, is one of the most common causes of non-syndromic, hereditary deafness. Connexins function as gap junction channels and as hemichannels, which mediate intercellular and transmembrane signaling, respectively. Both channel configurations can play important, but very different roles in the cochlea...
September 13, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28917133/waiting-for-lexical-access-cochlear-implants-or-severely-degraded-input-lead-listeners-to-process-speech-less-incrementally
#6
Bob McMurray, Ashley Farris-Trimble, Hannah Rigler
Spoken language unfolds over time. Consequently, there are brief periods of ambiguity, when incomplete input can match many possible words. Typical listeners solve this problem by immediately activating multiple candidates which compete for recognition. In two experiments using the visual world paradigm, we examined real-time lexical competition in prelingually deaf cochlear implant (CI) users, and normal hearing (NH) adults listening to severely degraded speech. In Experiment 1, adolescent CI users and NH controls matched spoken words to arrays of pictures including pictures of the target word and phonological competitors...
September 13, 2017: Cognition
https://www.readbyqxmd.com/read/28916646/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family
#7
Benjamin Roeben, Rebecca Schüle, Susanne Ruf, Benjamin Bender, Bader Alhaddad, Tanja Benkert, Thomas Meitinger, Selina Reich, Judith Böhringer, Claus-Dieter Langhans, Frédéric M Vaz, Saskia B Wortmann-Hagemann, Thorsten Marquardt, Tobias B Haack, Ingeborg Krägeloh-Mann, Ludger Schöls, Matthis Synofzik
OBJECTIVE: To demonstrate that mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters, thus adding SERAC1 to the increasing number of complex lipid cHSP genes. METHODS: Combined genomic and functional validation studies (whole-exome sequencing, mRNA, cDNA and protein), biomarker investigations (3-methyl-glutaconic acid, filipin staining and phosphatidylglycerols PG34:1/PG36:1), and clinical and imaging phenotyping were performed in six affected subjects from two different branches of a large consanguineous family...
September 15, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28915117/molecular-genetic-and-clinical-delineation-of-22-patients-with-congenital-hypogonadotropic-hypogonadism
#8
Kohei Aoyama, Haruo Mizuno, Tatsushi Tanaka, Takao Togawa, Yutaka Negishi, Kei Ohashi, Ikumi Hori, Masako Izawa, Takashi Hamajima, Shinji Saitoh
BACKGROUND: Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients with CHH. METHODS: We enrolled 22 Japanese patients with CHH from 21 families (18 patients with KS and 4 with nCHH) and analyzed 27 genes implicated in CHH by next-generation and Sanger sequencing. RESULTS: We detected 12 potentially pathogenic mutations in 11 families, with three having a mutation in ANOS1 (X-linked recessive); three and four having a mutation in FGFR1 and CHD7, respectively (autosomal dominant); and one having two TACR3 mutations (autosomal recessive)...
September 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28911857/new-mouse-model-for-inducing-and-evaluating-unilateral-vestibular-deafferentation-syndrome
#9
R Cassel, P Bordiga, D Pericat, C Hautefort, B Tighilet, C Chabbert
BACKGROUND: Unilateral vestibular deafferentation syndrome (uVDS) holds a particular place in the vestibular pathology domain. Due to its suddenness, the violence of its symptoms that often result in emergency hospitalization, and its associated original neurophysiological properties, this syndrome is a major source of questioning for the otoneurology community. Also, its putative pathogenic causes remain to be determined. There is currently a strong medical need for the development of targeted and effective countermeasures to improve the therapeutic management of uVDS...
September 11, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28910891/-clinical-study-of-aged-patients-with-secondary-benign-paroxysmal-positional-vertigo
#10
Z J Zhu, L P Wei, Z X Xu, H J Xu, Q Liu, N Luo
Objective: To investigate the clinical features and evaluate the efficacy of manual reduction in treatment of age patients with secondary benign paroxysmal positional vertigo (s-BPPV). Methods: Thirty-two cases of aged patients ( the s-BPPV group: including 19 cases of female and 13 males, age from 60 to 86 years old)with secondary benign paroxysmal positional vertigo from Jul. 2013 to Sep. 2015 in our hospital were retrospectively analyzed. The results were compared with 121 patients( the primary group: including 82 cases of female and 39males, aged from 60 to 86 years old)with aged primary benign paroxysmal positional vertigo(p -BPPV)...
September 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28906175/iatrogenic-patient-injuries-in-otology-during-a-10-year-period-review-of-national-patient-insurance-charts
#11
Päivi Helmiö, Riitta Saarinen, Leena-Maija Aaltonen, Lasse Lehtonen, Karin Blomgren
OBJECTIVE: To assess patient injury characteristics and contributing factors in otology. METHODS: Data on the accepted patient-injury claims involving otorhinolaryngology (ORL), closed between 2001 and 2011, from the Finnish Patient Insurance Centre registry was retrieved. We included all injuries concerning otology, with evaluation and classification of their causes and types. RESULTS: During the 10-year study period, a total of 44 claims were accepted as compensated patient injuries in otology...
September 14, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28906160/tone-production-and-perception-and-intelligibility-of-produced-speech-in-mandarin-speaking-cochlear-implanted-children
#12
Yi-Lu Li, Yi-Hui Lin, Hui-Mei Yang, Yeou-Jiunn Chen, Jiunn-Liang Wu
OBJECTIVE: This study explored tone production, tone perception and intelligibility of produced speech in Mandarin-speaking prelingually deaf children with at least 5 years of cochlear implant (CI) experience. Another focus was on the predictive value of tone perception and tone production as they relate to speech intelligibility. DESIGN: Cross-sectional research. STUDY SAMPLE: Thirty-three prelingually deafened children aged over eight years with over five years of experience with CI underwent tests for tone perception, tone production, and the Speech Intelligibility Rating (SIR)...
September 14, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28903891/health-information-national-trends-survey-in-american-sign-language-hints-asl-protocol-for-the-cultural-adaptation-and-linguistic-validation-of-a-national-survey
#13
Poorna Kushalnagar, Raychelle Harris, Raylene Paludneviciene, TraciAnn Hoglind
BACKGROUND: The Health Information National Trends Survey (HINTS) collects nationally representative data about the American's public use of health-related information. This survey is available in English and Spanish, but not in American Sign Language (ASL). Thus, the exclusion of ASL users from these national health information survey studies has led to a significant gap in knowledge of Internet usage for health information access in this underserved and understudied population. OBJECTIVE: The objectives of this study are (1) to culturally adapt and linguistically translate the HINTS items to ASL (HINTS-ASL); and (2) to gather information about deaf people's health information seeking behaviors across technology-mediated platforms...
September 13, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28902803/cochlear-implantation-in-otosclerosis-surgical-and-auditory-outcomes-with-a-brief-on-facial-nerve-stimulation
#14
Ashish Vashishth, Andrea Fulcheri, Gianluca Rossi, Sampath Chandra Prasad, Antonio Caruso, Mario Sanna
OBJECTIVES: 1) To review the surgical and auditory outcomes in patients of cochlear implantation in otosclerosis. 2) To review complications and postimplantation facial nerve stimulation (FNS). 3) To compare the auditory outcomes between patients displaying cochlear ossification to the nonossified ones. STUDY DESIGN: Retrospective study. SETTING: Quaternary Otology and Skull base surgery center. SUBJECTS AND METHODS: Charts of 36 patients (38 ears) with otosclerosis undergoing cochlear implantation were reviewed from the cochlear implant database...
October 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28901477/simultaneous-multi%C3%A2-gene-mutation-screening-using-snpscan-in-patients-from-ethnic-minorities-with-nonsyndromic-hearing%C3%A2-impairment-in-northwest-china
#15
Shi-Hong Duan, Jian-Li Ma, Xiao-Long Yang, Yu-Fen Guo
The present study aimed to investigate the molecular etiology of nonsyndromic hearing impairment (HI) in hearing impaired populations of Hui, Tibetan, and Tu ethnicities in northwest China. A total of 283 unrelated subjects with HI who attended special education schools in northwest China were enrolled in the present study. Single-nucleotide polymorphisms (SNPs) in three common deafness‑related genes, gap junction protein β2 (GJB2), solute carrier family 26 member 4 (SLC26A4) and mitochondrially encoded 12S RNA (mtDNA12SrRNA), were detected using a SNPscan technique...
September 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28900873/numerical-analysis-of-intracochlear-mechanical-auditory-stimulation-using-piezoelectric-bending-actuators
#16
Daniel Schurzig, Sebastian Schwarzendahl, Jörg Wallaschek, Wouter J van Drunen, Thomas S Rau, Thomas Lenarz, Omid Majdani
Cochlear implantation can restore a certain degree of auditory impression of patients suffering from profound hearing loss or deafness. Furthermore, studies have shown that in case of residual hearing, patients benefit from the use of a hearing aid in addition to the cochlear implant. The presented studies aim at the improvement of this electromechanical stimulation (EMS) approach by substituting the external hearing aid by an internal stimulus provided by miniaturized piezoelectric actuators. Finite element analyses are performed in order to derive fundamental guidelines for the actuator layout aiming at maximal mechanical stimuli...
September 13, 2017: Medical & Biological Engineering & Computing
https://www.readbyqxmd.com/read/28900111/carrier-re-sequencing-reveals-rare-but-benign-variants-in-recessive-deafness-genes
#17
Longxia He, Xiuhong Pang, Penghui Chen, Xiaowen Wang, Tao Yang, Hao Wu
For recessive Mendelian disorders, determining the pathogenicity of rare, non-synonymous variants in known causative genes can be challenging without expanded pedigrees and/or functional analysis. In this study, we proposed to establish a database of rare but benign variants in recessive deafness genes by systematic carrier re-sequencing. As a pilot study, 30 heterozygous carriers of pathogenic variants for deafness were identified from unaffected family members of 18 deaf probands. The entire coding regions of the corresponding genes were re-sequenced in those carriers by targeted next-generation sequencing or Sanger sequencing...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28899417/serotonin-augmentation-therapy-by-escitalopram-has-minimal-effects-on-amyloid-%C3%AE-levels-in-early-stage-alzheimer-s-like-disease-in-mice
#18
Christian Ulrich von Linstow, Jonas Waider, Manuela Grebing, Athanasios Metaxas, Klaus Peter Lesch, Bente Finsen
BACKGROUND: Dysfunction of the serotonergic (5-HTergic) system has been implicated in the cognitive and behavioural symptoms of Alzheimer's disease (AD). Accumulation of toxic amyloid-β (Aβ) species is a hallmark of AD and an instigator of pathology. Serotonin (5-HT) augmentation therapy by treatment with selective serotonin reuptake inhibitors (SSRIs) in patients with AD has had mixed success in improving cognitive function, whereas SSRI administration to mice with AD-like disease has been shown to reduce Aβ pathology...
September 12, 2017: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/28895463/impact-of-primary-language-and-insurance-on-pediatric-hearing-health-care-in-a-multidisciplinary-clinic
#19
Brooke M Su, Jason S Park, Dylan K Chan
Objective This study aims to describe the effects of primary language and insurance status on care utilization among deaf or hard-of-hearing children under active otolaryngologic and audiologic care. Study Design Cross-sectional analysis. Setting Multidisciplinary hearing loss clinic at a tertiary center. Subjects and Methods Demographics, hearing loss data, and validated survey responses were collected from 206 patients aged 0 to 19 years. Two-sided t tests and χ(2) tests were used to obtain descriptive statistics and hypothesis testing...
September 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28887846/mutations-in-kars-cause-early-onset-hearing-loss-and-leukoencepha-lopathy-potential-pathogenic-mechanism
#20
Xiao-Long Zhou, Long-Xia He, Li-Jia Yu, Yong Wang, Xi-Jin Wang, En-Duo Wang, Tao Yang
Leukoencephalopathies are a broad class of common neurologic deterioration for which the etiology remain unsolved in many cases. In a Chinese Han family segregated with sensorineural hearing loss and leukoencephalopathy, candidate pathogenic variants were identified by targeted next-generation sequencing of 144 genes associated with deafness and 108 genes with leukoencephalopathy. Novel compound heterozygous mutations p.R477H and p.P505S were identified in KARS, which encodes lysyl-tRNA synthetase (LysRS), as the only candidate causative variants...
September 8, 2017: Human Mutation
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