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https://www.readbyqxmd.com/read/29232674/speech-and-language-pathologists-voice-use-in-working-environments-a-field-study-using-ambulatory-phonation-monitoring
#1
Francesco Mozzanica, Alessandro Selvaggio, Daniela Ginocchio, Nicole Pizzorni, Letizia Scarponi, Antonio Schindler
OBJECTIVE: The aim of this study was to evaluate the speech and language pathologists' (SLPs) voice production during a typical working day. PATIENTS AND METHODS: A total of 28 SLPs, all females, were enrolled. According to the type of treated disease, the cohort of SLPs was divided into 4 groups (7 SLPs focused on the rehabilitation of dysphagic adult clients; 7 SLPs focused on the rehabilitation of deaf children; 7 SLPs focused on the rehabilitation of dysphonic adult clients; and 7 SLPs focused on the rehabilitation of aphasic adult clients)...
December 12, 2017: Folia Phoniatrica et Logopaedica
https://www.readbyqxmd.com/read/29232042/evaluation-of-visual-motion-perception-ability-in-mice-with-knockout-of-the-dyslexia-candidate-susceptibility-gene-dcdc2
#2
Amanda R Rendall, Peter A Perrino, Joseph J LoTurco, R Holly Fitch
Developmental dyslexia is a heritable disability characterized by difficulties in learning to read and write that cannot be explained by comorbid factors such as intellectual impairment, lack of educational opportunity, or other neurological disorders (e.g. epilepsy or primary sensory impairments (blindness, deafness)). Dyslexia is considered a common neurodevelopmental disorder, affecting 5%-12% of the population (Lyon, Shaywitz & Shaywitz, 2003; Peterson & Pennington, 2012). It is also a highly heterogeneous disorder, with varied intermediate phenotypes, that include visual and cross-modal integration deficits...
December 12, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29230941/a-child-with-myhre-syndrome-presenting-with-corectopia-and-tetralogy-of-fallot
#3
Marianna Alagia, Gerarda Cappuccio, Michele Pinelli, Annalaura Torella, Raffaella Brunetti-Pierri, Francesca Simonelli, Giuseppe Limongelli, Guido Oppido, Vincenzo Nigro, Nicola Brunetti-Pierri
Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, short hands and feet, compact build, joint stiffness, and skeletal anomalies. The clinical features generally appear during childhood and become more evident in older patients. Therefore, the diagnosis of this syndrome in the first years of life is challenging...
December 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29229361/a-literature-review-on-maternal-fetal-and-reproductive-disorders-of-toxoplasma-gondii-infection
#4
REVIEW
Shirzad Fallahi, Ali Rostami, Malihe Nourollahpour Shiadeh, Hamed Behniafar, Shahrokh Paktinat
BACKGROUND: Toxoplasma gondii infection is one of the most prevalent infectious disease with worldwide distribution. Congenital toxoplasmosis is annually responsible for 1.20 million disability-adjusted life years around the world, but often it is overlooked many countries. METHODS: We performed an updated review to summarize the current researches on fetal, neonatal and maternal consequences of T. gondii infection and also adverse effects of toxoplasmosis on women reproductive organs...
December 8, 2017: Journal of Gynecology Obstetrics and Human Reproduction
https://www.readbyqxmd.com/read/29228307/superordinate-precision-an-examination-of-academic-writing-among-bilingual-deaf-and-hard-of-hearing-students
#5
Jessica A Scott, Robert J Hoffmeister
Academic English is an essential literacy skill area for success in post-secondary education and in many work environments. Despite its importance, academic English is understudied with deaf and hard of hearing (DHH) students. Nascent research in this area suggests that academic English, alongside American Sign Language (ASL) fluency, may play an important role in the reading proficiency of DHH students in middle and high school. The current study expands this research to investigate academic English by examining student proficiency with a sub-skill of academic writing called superordinate precision, the taxonomical categorization of a term...
December 8, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/29228241/speech-intelligibility-and-personality-peer-ratings-of-young-adults-with-cochlear-implants
#6
Valerie Freeman
Speech intelligibility, or how well a speaker's words are understood by others, affects listeners' judgments of the speaker's competence and personality. Deaf cochlear implant (CI) users vary widely in speech intelligibility, and their speech may have a noticeable "deaf" quality, both of which could evoke negative stereotypes or judgments from peers. In this study, college students with typical hearing (TH) used semantic differential scales to rate speech samples of highly-intelligible TH young adults and age-matched CI users with high or low intelligibility (CI-Hi, CI-Lo) on personality traits related to competence (intelligence, achievement), friendship skills (friendliness, popularity), and attractiveness as a friend (extraversion, dependability)...
December 8, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/29227442/what-is-the-sensitive-period-to-initiate-auditory-stimulation-for-the-second-ear-in-sequential-cochlear-implantation
#7
Hong Ju Park, Jee Yeon Lee, Chan Joo Yang, Jun Woo Park, Byung Chul Kang, Woo Seok Kang, Joong Ho Ahn, Jong Woo Chung
OBJECTIVES: Bilateral cochlear implants (CI) are the standard treatment for bilaterally deaf children, but it is unclear how much the second CI can be delayed in sequential bilateral CI. We investigated the performances of sequential CI to answer this question. STUDY DESIGN: Retrospective case series review. SETTING: Tertiary referral center. METHODS: We studied a cohort of congenitally deaf children (n = 73) who underwent sequential CI without any inner ear anomaly or combined disabilities...
December 7, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29225751/anesthesia-for-the-deaf-and-mute
#8
Anju Romina Bhalotra, Bhavna Kakkar
No abstract text is available yet for this article.
December 2017: Korean Journal of Anesthesiology
https://www.readbyqxmd.com/read/29224769/evaluation-of-speech-reception-threshold-in-noise-in-young-cochlear%C3%A2-nucleus%C3%A2-system-6-implant-recipients-using-two-different-digital-remote-microphone-technologies-and-a-speech-enhancement-sound-processing-algorithm
#9
Sergio Razza, Monica Zaccone, Aannalisa Meli, Eliana Cristofari
OBJECTIVE: Children affected by hearing loss can experience difficulties in challenging and noisy environments even when deafness is corrected by Cochlear implant (CI) devices. These patients have a selective attention deficit in multiple listening conditions. At present, the most effective ways to improve the performance of speech recognition in noise consists of providing CI processors with noise reduction algorithms and of providing patients with bilateral CIs. The aim of this study was to compare speech performances in noise, across increasing noise levels, in CI recipients using two kinds of wireless remote-microphone radio systems that use digital radio frequency transmission: the Roger Inspiro accessory and the Cochlear Wireless Mini Microphone accessory...
December 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29224747/next-generation-sequencing-identifies-three-novel-missense-variants-in-ildr1-and-myo6-genes-in-an-iranian-family-with-hearing-loss-with-review-of-the-literature
#10
Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Masoomeh Sayahi
OBJECTIVES: Hearing impairment is the most common sensorineural disorder and is genetically heterogeneous. Identification of the pathogenic mutations underlying hearing impairment is difficult, since causative mutations in 127 different genes have so far been reported. METHODS: In this study, we performed Next-generation sequencing (NGS) in 2 individuals from a consanguineous family with hearing loss. RESULTS: Three novel mutations in known deafness genes were identified in the family; MYO6-p...
December 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29222912/bringing-the-disabled-body-to-personality-psychology-a-case-study-of-samantha
#11
Jonathan M Adler
OBJECTIVE: Personality psychology has largely ignored the experiences of people with disabilities. This paper strives to bring the thriving, interdisciplinary field of disability studies to personality psychology via a case study of Samantha (N=1). Samantha feels that she grew up as a hearing person who could not hear and is now a deaf person who can hear. METHOD: Narrative identity provides the theoretical, methodological, and analytical framework for the rich, qualitative examination of Samantha's life story, interwoven with approaches from disability studies and intersectionality theory...
December 9, 2017: Journal of Personality
https://www.readbyqxmd.com/read/29220674/actb-loss-of-function-mutations-result-in-a-pleiotropic-developmental-disorder
#12
Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert, Jill Clayton-Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, Maria C Digilio, Abhijit Dixit, Matthew Edwards, Jan M Friedman, Antonio Gonzalez-Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y T Ma, Ruth McGowan, Maryse Des Medt, James O'Sullivan, Sylvie Odent, Michael J Parker, Céline Pebrel-Richard, Florence Petit, Zornitza Stark, Sylvia Stockler-Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M White, Farah R Zahir, Adrian S Woolf, Siddharth Banka
ACTB encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial features. To date, the consequences of loss-of-function ACTB mutations have not been proven conclusively. We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS...
December 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29218724/genetic-disruption-of-fractalkine-signaling-leads-to-enhanced-loss-of-cochlear-afferents-following-ototoxic-or-acoustic-injury
#13
Tejbeer Kaur, Kevin K Ohlemiller, Mark E Warchol
Cochlear hair cells are vulnerable to a variety of insults like acoustic trauma and ototoxic drugs. Such injury can also lead to degeneration of spiral ganglion neurons (SGNs), but this occurs over a period of months to years. Neuronal survival is necessary for the proper function of cochlear prosthetics, therefore it is of great interest to understand the mechanisms that regulate neuronal survival in deaf ears. We have recently demonstrated that selective hair cell ablation is sufficient to attract leukocytes into the spiral ganglion (SG), and that fractalkine signaling plays a role in macrophage recruitment and in the survival of auditory neurons...
December 8, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/29212424/surgical-complications-of-cochlear-implantation-in-a-tertiary-university-hospital
#14
Al Hussein Awad, Usama M Rashad, Nihal Gamal, Mostafa A Youssif
INTRODUCTION: Cochlear implantation remains a popular and effective therapy for patients with sensorineural hearing loss that not get benefit from conventional hearing aids Objective: To analyze the surgical complications obtained in patients that underwent cochlear implantation in a tertiary university hospital. MATERIALS AND METHODS: Retrospective analysis of the medical files of cochlear implant patients who underwent surgery at our institution between October 2014 and July 2016...
December 7, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/29210952/survey-of-the-american-neurotology-society-on-cochlear-implantation-part-1-candidacy-assessment-and-expanding-indications
#15
Matthew L Carlson, Douglas P Sladen, Richard K Gurgel, Nicole M Tombers, Christine M Lohse, Colin L Driscoll
OBJECTIVE: To examine practice variance of cochlear implant candidacy assessment and off-label indications across centers in the United States. METHODS: Cross-sectional survey of the American Neurotology Society (ANS). RESULTS: A total of 81 surveys were returned from ANS members who report regular involvement in cochlear implant care. Overall there was a broad distribution in age and clinical experience, with most respondents reporting ACGME accreditation in neurotology and employment at an academic center...
November 28, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29210948/cochlear-implantation-in-a-patient-with-sickle-cell-disease-with-early-cochlear-sclerosis
#16
Seon Jeong Kim, Muhammad Reza Taheri, Marquitta Merkison, Ashkan Monfared
OBJECTIVE: We report a case of bilateral sudden sensorineural hearing loss (SNHL) and early cochlear sclerosis in a patient with sickle cell disease. METHODS: A 19-year-old female presented with sequential bilateral sudden SNHL and early cochlear sclerosis. Cochlear implantation was performed. RESULTS: Early cochlear fibrosis in the hook region and basal turn was encountered within a few months of deafness. Implantation required serial dilation using various insertion guides...
November 28, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29209697/false-belief-development-in-children-who-are-hard-of-hearing-compared-with-peers-with-normal-hearing
#17
Elizabeth A Walker, Sophie E Ambrose, Jacob Oleson, Mary Pat Moeller
Purpose: This study investigates false belief (FB) understanding in children who are hard of hearing (CHH) compared with children with normal hearing (CNH) at ages 5 and 6 years and at 2nd grade. Research with this population has theoretical significance, given that the early auditory-linguistic experiences of CHH are less restricted compared with children who are deaf but not as complete as those of CNH. Method: Participants included CHH and CNH who had completed FB tasks as part of a larger multicenter, longitudinal study on outcomes of children with mild-to-severe hearing loss...
December 6, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/29207797/audit-of-organic-acidurias-from-a-single-centre-clinical-and-metabolic-profile-at-presentation-with-long-term-outcome
#18
Seema Pavaman Sindgikar, Krithika Damodar Shenoy, Nutan Kamath, Rathika Shenoy
Introduction: Organic Acidurias (OA) accounts between 10% and 40% of confirmed Inborn Errors of Metabolism (IEM) in India. With prompt recognition and management, better survival but adverse neurodevelopmental outcome is reported. Aim: To study the clinical and metabolic presentation, management with immediate and long term outcome of symptomatic children with confirmed OA. Materials and Methods: Hospital based study of symptomatic children diagnosed to have OA between 2003 and 2009 and the survivors followed up over next five years...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29207085/chronic-prenatal-hypoxia-impairs-cochlear-development-a-mechanism-involving-connexin26-expression-and-promoter-methylation
#19
Jingcang Lin, Huang Huang, Guorong Lv, Xiangyang Xu, Wendong Lin, Xianyan Xu, Jing Cheng, Ming Zheng
Chronic prenatal hypoxia is a damaging to fetal development and may have various consequences, including hearing loss. Connexin 26 (Cx26) is one of the major protein subunits required for gap junction formation, and has an important role in maintaining homeostasis in the cochlea and normal hearing. Cx26 mutation and expression abnormality are closely associated with inherited nonsyndromic deafness, but the association between Cx26 and prenatal hypoxia is less established. The present study aimed to examine Cx26 expression and aberrant methylation the Cx26 promoter region in the cochlea from rats exposed to chronic prenatal hypoxia...
December 1, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29205472/progressive-deafness-dystonia-due-to-serac1-mutations-a-study-of-67-cases
#20
Saskia B Wortmann, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed A Al-Owain, Hamad I Al-Zaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K Chung, Roberto Colombo, Niklas Darin, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grunewald, Tobias B Haack, Peter M van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Reka Kovacs-Nagy, Zita Krumina, Elena Martin-Hernandez, Johannes A Mayr, Patricia McClean, Linda De Meirleir, Karin Naess, Lock H Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa Riley, Benjamin Roeben, Frank Rutsch, Rene Santer, Manuel Schiff, Martine Seders, Silvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W Taylor, Joanna Trubicka, Konstantinos Tsiakas, Ozlem Unal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Eva Morava, Ewa Pronicka, Ron A Wevers, Arjan P de Brouwer, Roeltje R Maas
OBJECTIVE: 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: Multi centre study concerning the course of disease for each organ system, together with metabolic, neuroradiological and genetic findings. RESULTS: 67 individuals (39 previously unreported) from 59 families were included (age range 5 days - 33.4 years, median age 9 years)...
December 2, 2017: Annals of Neurology
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