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https://www.readbyqxmd.com/read/29676012/further-audiovestibular-characterization-of-dfnb77-caused-by-deleterious-variants-in-loxhd1-and-investigation-into-the-involvement-of-fuchs-corneal-dystrophy
#1
M Wesdorp, V Schreur, A J Beynon, J Oostrik, J M van de Kamp, M W Elting, M-J H van den Boogaard, I Feenstra, R J C Admiraal, H P M Kunst, C B Hoyng, H Kremer, H G Yntema, R J E Pennings, M Schraders
This study focuses on further characterization of the audiovestibular phenotype and on genotype-phenotype correlations of DFNB77, an autosomal recessive type of hearing impairment (HI). DFNB77 is associated with disease-causing variants in LOXHD1, and is genetically and phenotypically highly heterogeneous. Heterozygous deleterious missense variants in LOXHD1 have been associated with late-onset Fuchs corneal dystrophy (FCD). However, up to now screening for FCD of heterozygous carriers in DFNB77 families has not been reported...
April 19, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29672447/effects-of-human-papillomavirus-awareness-and-knowledge-on-psychological-state-of-women-referred-to-cervical-cancer-screening
#2
Ljiljana Markovic-Denic, Olivera Djuric, Natasa Maksimovic, Svetlana Popovac, Vesna Kesic
OBJECTIVE: The aim of the study was to assess the impact of human papillomavirus (HPV) awareness and knowledge on physiological state and quality of life of women referred to colposcopy and/or HPV testing. MATERIALS AND METHODS: A cross-sectional study was carried out at University Hospital, Belgrade, Serbia. The women with abnormal Pap test results obtained at the primary care centers requiring colposcopy and/or HPV testing were included. Before gynecological examination, participants filled the questionnaire on demographic characteristics, gynecological history, questionnaire for the evaluation of HPV awareness and HPV knowledge level, a set of self-report questionnaires assessing the anxiety level, quality of life, and concern about the smear and colposcopy results and perceived risk of developing cervical cancer...
April 19, 2018: Journal of Lower Genital Tract Disease
https://www.readbyqxmd.com/read/29671961/tmtc2-variant-associated-with-sensorineural-hearing-loss-and-auditory-neuropathy-spectrum-disorder-in-a-family-dyad
#3
Hector Guillen-Ahlers, Christy B Erbe, Frédéric D Chevalier, Maria J Montoya, Kip D Zimmerman, Carl D Langefeld, Michael Olivier, Christina L Runge
BACKGROUND: Sensorineural hearing loss (SNHL) is a common form of hearing loss that can be inherited or triggered by environmental insults; auditory neuropathy spectrum disorder (ANSD) is a SNHL subtype with unique diagnostic criteria. The genetic factors associated with these impairments are vast and diverse, but causal genetic factors are rarely characterized. METHODS: A family dyad, both cochlear implant recipients, presented with a hearing history of bilateral, progressive SNHL, and ANSD...
April 19, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29671090/postoperative-cognitive-dysfunction-after-cochlear-implantation
#4
Annes J Claes, Suzanne de Backer, Paul Van de Heyning, Annick Gilles, Vincent Van Rompaey, Griet Mertens
PURPOSE: Postoperative cognitive dysfunction (PCD) is a subtle, prolonged deterioration in cognition after surgery. This complication has been frequently investigated, mainly after major (cardiac) surgery. However, the incidence after cochlear implantation is unknown. Therefore, the aim of the study was to investigate the incidence and possible risk factors of PCD in severely hearing-impaired older adults after cochlear implantation. METHODS: In a prospective cohort study, 26 older participants (age: M = 70, SD = 8 years), scheduled for cochlear implantation, were assessed prior to and 1 week after implantation by means of the Montreal Cognitive Assessment (MoCA)...
April 18, 2018: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29669381/prevalence-of-congenital-cmv-infection-and-antiviral-therapy-in-very-low-birth-weight-infants-observations-of-the-german-neonatal-network
#5
Alexander Humberg, Viola Leienbach, Mats I Fortmann, Tanja K Rausch, Horst Buxmann, Andreas Müller, Egbert Herting, Christoph Härtel, Wolfgang Göpel
BACKGROUND: To determine the prevalence of congenital CMV infection (cCMV) in very-low-birth-weight infants (VLBWI) and to evaluate epidemiological characteristics of VLBWI with antiviral therapy (AT). METHODS: CMV-specific PCR in umbilical cord tissue was performed (n=3330). Univariate analyses and logistic regression models were used to identify associations with outcome. RESULTS: 22/3330 VLBWI received AT (0.66%). 4 of these (0.12%) were PCR positive, with 2 VLBWI showing pathological screening for hearing loss...
April 18, 2018: Klinische Pädiatrie
https://www.readbyqxmd.com/read/29668374/evidence-based-occupational-hearing-screening-ii-validation-of-a-screening-methodology-using-measures-of-functional-hearing-ability
#6
Sigfrid D Soli, Akiko Amano-Kusumoto, Odile Clavier, Jed Wilbur, Kristen Casto, Daniel Freed, Chantal Laroche, Véronique Vaillancourt, Christian Giguère, Wouter A Dreschler, Koenraad S Rhebergen
OBJECTIVE: Validate use of the Extended Speech Intelligibility Index (ESII) for prediction of speech intelligibility in non-stationary real-world noise environments. Define a means of using these predictions for objective occupational hearing screening for hearing-critical public safety and law enforcement jobs. DESIGN: Analyses of predicted and measured speech intelligibility in recordings of real-world noise environments were performed in two studies using speech recognition thresholds (SRTs) and intelligibility measures...
May 2018: International Journal of Audiology
https://www.readbyqxmd.com/read/29667168/cognitive-decline-and-older-driver-crash-risk
#7
Laura A Fraade-Blanar, Beth E Ebel, Eric B Larson, Jeanne M Sears, Hilaire J Thompson, Kwun Chuen G Chan, Paul K Crane
OBJECTIVES: To examine automobile crash risk associated with cognition in older drivers without dementia. DESIGN: Retrospective secondary analysis of longitudinal cohort study. SETTING: Our study used data from the Adult Changes in Thought (ACT) Study merged with Washington State crash reports and licensure records. Data were available from 2002 to 2015. PARTICIPANTS: Group Health enrollees from Washington State aged 65 and older with active driver's licenses (N=2,615)...
April 17, 2018: Journal of the American Geriatrics Society
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
#8
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/29664159/reading-aids-for-adults-with-low-vision
#9
REVIEW
Gianni Virgili, Ruthy Acosta, Sharon A Bentley, Giovanni Giacomelli, Claire Allcock, Jennifer R Evans
BACKGROUND: The purpose of low-vision rehabilitation is to allow people to resume or to continue to perform daily living tasks, with reading being one of the most important. This is achieved by providing appropriate optical devices and special training in the use of residual-vision and low-vision aids, which range from simple optical magnifiers to high-magnification video magnifiers. OBJECTIVES: To assess the effects of different visual reading aids for adults with low vision...
April 17, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29661612/hearing-self-motion-perception-mobility-and-aging
#10
REVIEW
Jennifer Campos, Robert Ramkhalawansingh, M Kathleen Pichora-Fuller
Hearing helps us know where we are relative to important events and objects in our environment and it allows us to track our changing position dynamically over space and time. Auditory cues are used in combination with other sensory inputs (visual, vestibular, proprioceptive) to help us perceive our own movements through space, known as self-motion perception. Whether we are maintaining standing balance, walking, or driving, audition can provide unique and important information to help optimize self-motion perception, and consequently to support safe mobility...
March 31, 2018: Hearing Research
https://www.readbyqxmd.com/read/29661046/diagnostic-accuracy-of-tuning-fork-tests-for-hearing-loss-a-systematic-review
#11
Elizabeth A Kelly, Bin Li, Meredith E Adams
Objective (1) To determine the diagnostic accuracy of tuning fork tests (TFTs; Weber and Rinne) for assessment of hearing loss as compared with standard audiometry. (2) To identify the audiometric threshold at which TFTs transition from normal to abnormal, thus indicating the presence of hearing loss. Data Sources PubMed, Ovid Medline, EMBASE, Web of Science, Cochrane, and Scopus and manual bibliographic searches. Review Methods A systematic review of studies reporting TFT accuracy was performed according to a standardized protocol...
April 1, 2018: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29658314/comparing-strategies-for-recruiting-small-low-wage-worksites-for-community-based-health-promotion-research
#12
Kristen Hammerback, Peggy A Hannon, Amanda T Parrish, Claire Allen, Marlana J Kohn, Jeffrey R Harris
BACKGROUND: HealthLinks is a workplace health promotion program developed in partnership with the American Cancer Society. It delivers a package of evidence-based interventions and implementation support to small worksites in low-wage industries. As part of a randomized, controlled trial of HealthLinks, we studied approaches to recruiting these worksites. AIMS: This study aims to guide future recruitment for community-based worksite health promotion interventions by comparing three approaches, including leveraging relationships with community partners...
April 1, 2018: Health Education & Behavior: the Official Publication of the Society for Public Health Education
https://www.readbyqxmd.com/read/29656928/benign-paroxysmal-migraine-variants-of-infancy-and-childhood-transitions-and-clinical-features
#13
Jacob Brodsky, Karampreet Kaur, Talia Shoshany, Sophie Lipson, Guangwei Zhou
INTRODUCTION: Migraine variant disorders of childhood include benign paroxysmal torticollis of infancy (BPTI) and benign paroxysmal vertigo of childhood (BPVC). This study aimed to review our experience with BPTI and BPVC and determine the incidence of children transitioning between each of these disorders and to vestibular migraine (VM). METHODS: We retrospectively reviewed the medical records of patients seen at the Balance and Vestibular Program at Boston Children's Hospital between January 2012 and December 2016 who were diagnosed with BPTI, BPVC, and/or VM...
March 30, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29656927/pontocerebellar-hypoplasia-type-1-for-the-neuropediatrician-genotype-phenotype-correlations-and-diagnostic-guidelines-based-on-new-cases-and-overview-of-the-literature
#14
I Ivanov, D Atkinson, I Litvinenko, L Angelova, S Andonova, H Mumdjiev, I Pacheva, M Panova, R Yordanova, V Belovejdov, A Petrova, M Bosheva, T Shmilev, A Savov, A Jordanova
Pontocerebellar hypoplasia type 1 (PCH1) is a major cause of non-5q spinal muscular atrophy (SMA). We screened 128 SMN1-negative SMA patients from Bulgaria for a frequent mutation -p.G31A in EXOSC3, and performed a literature review of all genetically verified PCH1 cases. Homozygous p.G31A/EXOSC3 mutation was identified in 14 Roma patients, representing three fourths of all our SMN1-negative Roma SMA cases. The phenotype of the p.G31A/EXOSC3 homozygotes was compared to the clinical presentation of all reported to date genetically verified PCH1 cases...
April 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29655801/analysis-of-intragenic-ush2a-copy-number-variation-unveils-broad-spectrum-of-unique-and-recurrent-variants
#15
Christina A Austin-Tse, Diana L Mandelker, Andrea M Oza, Heather Mason-Suares, Heidi L Rehm, Sami S Amr
Given that all forms of Usher syndrome (USH) present with hearing loss in advance of retinal disease, the syndromic nature of the disorder is rarely appreciated when critical management decisions are being made. As a result, molecular diagnostics are crucial in guiding the management of USH patients. While 11 genes have been associated with USH, the USH2A gene is one of the largest contributors. Approximately 20% of suspected USH probands that undergo USH2A sequencing at our laboratory receive an inconclusive result due to the identification of a monoallelic disease-causing variant in USH2A...
April 12, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29625443/comprehensive-molecular-screening-in-chinese-usher-syndrome-patients
#16
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
https://www.readbyqxmd.com/read/29624570/are-diuretics-effective-for-m%C3%A3-ni%C3%A3-re-s-disease
#17
Andrés Rosenbaum, Matías Winter
INTRODUCTION: Ménière`s disease is an inner ear disorder characterized by episodes of spontaneous vertigo, fluctuating hearing loss and tinnitus. Diuretics have been widely used for the treatment of attacks, but there is controversy about their effectiveness. METHODS: To answer this question we used Epistemonikos, the largest database of systematic reviews in health, which is maintained by screening multiple information sources, including MEDLINE, EMBASE, Cochrane, among others...
March 28, 2018: Medwave
https://www.readbyqxmd.com/read/29622487/passing-the-newborn-hearing-screen-does-not-always-exclude-infectious-congenital-acquired-hearing-loss
#18
E Sabroske, M D Svoboda, Y-T Ng
No abstract text is available yet for this article.
February 8, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29620237/a-novel-missense-mutation-in-the-actg1-gene-in-a-family-with-congenital-autosomal-dominant-deafness-a-case-report
#19
Cha Gon Lee, Jahyeon Jang, Hyun-Seok Jin
The ACTG1 gene encodes the cytoskeletal protein γ-actin, which functions in non‑muscle cells and is abundant in the auditory hair cells of the cochlea. Autosomal dominant missense mutations in ACTG1 are associated with DFNA20/26, a disorder that is typically characterized by post‑lingual progressive hearing loss. To date, 17 missense mutations in ACTG1 have been reported in 20 families with DFNA20/26. The present study described a small family with autosomal dominant nonsyndromic hearing loss. A novel heterozygous missense mutation, c...
March 29, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29615299/procedures-for-central-auditory-processing-screening-in-schoolchildren
#20
Nádia Giulian de Carvalho, Thalita Ubiali, Maria Isabel Ramos do Amaral, Maria Francisca Colella Santos
INTRODUCTION: Central auditory processing screening in schoolchildren has led to debates in literature, both regarding the protocol to be used and the importance of actions aimed at prevention and promotion of auditory health. Defining effective screening procedures for central auditory processing is a challenge in Audiology. OBJECTIVE: This study aimed to analyze the scientific research on central auditory processing screening and discuss the effectiveness of the procedures utilized...
March 22, 2018: Brazilian Journal of Otorhinolaryngology
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