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https://www.readbyqxmd.com/read/28821934/whole-exome-sequencing-to-identify-the-cause-of-congenital-sensorineural-hearing-loss-in-carriers-of-a-heterozygous-gjb2-mutation
#1
Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, Andreas Kirchnawy, Berthold Streubel, Christian Schoefer, Klemens Frei, Trevor Lucas
Bi-allelic variations in the gap junction protein beta-2 (GJB2) gene cause up to 50% of cases of newborn hearing loss. Heterozygous pathogenic GJB2 variations are also fivefold overrepresented in idiopathic patient groups compared to the normal-hearing population. Whether hearing loss in this group is due to unidentified additional variations within GJB2 or variations in other deafness genes is unknown in most cases. Whole-exome sequencing offers an effective approach in the search for causative variations in patients with Mendelian diseases...
August 18, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28817613/diflunisal-inhibits-prestin-by-chloride-dependent-mechanism
#2
Guillaume Duret, Fred A Pereira, Robert M Raphael
The motor protein prestin is a member of the SLC26 family of anion antiporters and is essential to the electromotility of cochlear outer hair cells and for hearing. The only direct inhibitor of electromotility and the associated charge transfer is salicylate, possibly through direct interaction with an anion-binding site on prestin. In a screen to identify other inhibitors of prestin activity, we explored the effect of the non-steroid anti-inflammatory drug diflunisal, which is a derivative of salicylate. We recorded prestin activity by whole-cell patch clamping HEK cells transiently expressing prestin and mouse outer hair cells...
2017: PloS One
https://www.readbyqxmd.com/read/28815627/should-infants-who-fail-their-newborn-hearing-screen-undergo-cytomegalovirus-testing
#3
Albert H Park, Angela G Shoup
No abstract text is available yet for this article.
August 16, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28813070/neonatal-hearing-screening-in-primary-health-care-and-family-health-care
#4
José Carlos Sabbag, Adriana Bender Moreira de Lacerda
Purpose: The Universal Newborn Hearing Screening (UNHS) looks for early diagnosis and rehabilitation of newborns at risk or not of hearing impairment. The purpose is analyze the flow of Universal Newborn Hearing Screening in the family health care strategy unit through the tracking and monitoring of children. Methods: This is a quantitative and retrospective study. The trace begins with the third copy of the Live Newborn Declaration, filled in at the maternity ward...
August 10, 2017: CoDAS
https://www.readbyqxmd.com/read/28806339/cognitive-evaluation-of-cochlear-implanted-adults-using-codex-and-moca-screening-tests
#5
Emmanuèle Ambert-Dahan, Shirley Routier, Lucie Marot, Didier Bouccara, Olivier Sterkers, Evelyne Ferrary, Isabelle Mosnier
OBJECTIVE: The relationship between hearing loss and cognitive function has already been established. The objective of our study was to determine whether the two short cognitive tests, COgnitive Disorders EXamination (CODEX) and Montreal Cognitive Assessment (MoCA), could be used in daily clinical practice to detect cognitive impairment, and its changes after cochlear implantation. PATIENTS: Eighteen patients with severe to profound postlingual progressive hearing loss (mean age ± SEM: 64 ± 3...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28805616/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-16
#6
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16. CASE REPORT: A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening for Down syndrome. Amniocentesis revealed a karyotype of 47,XY,+mar[5]/46,XY[9]. Parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) analysis of cultured amniocytes revealed a de novo 16% gene dosage increase of 16q11...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28802365/exploring-reasons-for-late-identification-of-children-with-early-onset-hearing-loss
#7
Elizabeth M Fitzpatrick, Johnny Cesconetto Dos Santos, Viviane Grandpierre, JoAnne Whittingham
INTRODUCTION: Several studies have shown that early identification of childhood hearing loss leads to better language outcomes. However, delays in the confirmation of hearing loss persist even in the presence of well-established universal newborn hearing screening programs (UNHS). The objective of this population-based study was to document the proportion of children who experienced delayed confirmation of congenital and early onset hearing loss in a UNHS program in one region of Canada...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802360/resolution-of-bilateral-sensorineural-hearing-loss-following-ventriculoperitoneal-shunt-and-literature-review
#8
A Jamshidi, C Glidewell, J Murnick, S Magge, B K Reilly
OBJECTIVE: The purpose of this study is to highlight the relationship between obstructive hydrocephalus, changes in intracranial pressure, and sensorineural hearing loss. METHODS: A case of a 10-month old infant with sensorineural hearing loss secondary to obstructive hydrocephalus is reported. A literature review, with a focus on sensorineural hearing loss in the setting of changes in intracranial pressure, was performed. RESULTS: The authors report the case of a 10-month old infant with metopic and bicoronal craniosynostosis who presented with bilateral moderately severe sensorineural hearing loss after failing newborn hearing screening...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802353/hearing-loss-in-children-with-growth-hormone-deficiency
#9
John S Muus, Forest W Weir, Kathryn L Kreicher, Deborah A Bowlby, Christopher M Discolo, Ted A Meyer
OBJECTIVE: Although insulin-like growth factor 1 (IGF-1) has been shown to be important for inner-ear development in animal models, little is known about the otologic and audiologic findings of children with growth hormone deficiency (GHD). The goal of this study is to evaluate the prevalence, type, and severity of hearing impairment in children with GHD. METHODS: Audiologic, otologic, and demographic data were recorded for children with a diagnosis of GHD in the AudGen database...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802351/exome-sequencing-identifies-a-novel-missense-mutation-of-wfs1-as-the-cause-of-non-syndromic-low-frequency-hearing-loss-in-a-chinese-family
#10
Zhijie Niu, Yong Feng, Zhengmao Hu, Jiada Li, Jie Sun, Hongsheng Chen, Chufeng He, Xueping Wang, Lu Jiang, Yalan Liu, Xinzhang Cai, Lili Wang, Yuxiang Cai, Xuezhong Liu, Lingyun Mei
OBJECTIVE: Autosomal dominant non-syndromic low-frequency sensorineural hearing loss (LFSNHL) DFNA6/14/38 is an uncommon type of hearing loss that classically affects low frequencies of 2000 Hz and below, demonstrating an ascending configuration. The current study aimed to investigate the cause of LFSNHL in a five-generation Chinese family. METHODS: The phenotype of the Chinese family was characterized using audiologic testing and pedigree analysis. The combined approach of array screening and whole-exome sequencing was used to identify the disease-causing gene in this family...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28799200/simple-tests-compare-well-with-a-hand-held-audiometer-for-hearing-loss-screening-in-primary-care
#11
William J Strawbridge, Margaret I Wallhagen
OBJECTIVES: To compare hearing loss screening results of four simple tests with those of hand-held audiometry. DESIGN: Cross-sectional study of individuals screened during intake for physicals and other routine procedures. SETTING: Two primary care clinics in the San Francisco Bay area. PARTICIPANTS: Older adults not wearing hearing aids (N = 125, mean age 72.9, 63% female). MEASUREMENTS: Direct question about hearing loss, indirect question, finger-rub test, whisper test, and audiometric results using a hand-held audiometer...
August 11, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28796088/the-effect-of-citalopram-versus-a-placebo-on-central-auditory-processing-in-the-elderly
#12
Jose Fernando Polanski, Alexandra Dezani Soares, Liliane Desgualdo Pereira, Oswaldo Laercio de Mendonça Cruz
OBJECTIVE: Evaluate the effects of therapy with citalopram on the central auditory processing in the elderly measured by central auditory tests. STUDY DESIGN: Prospective, randomized, double-blind, placebo-controlled study. SETTING: Tertiary referral center. PATIENTS: Thirty-nine patients older than 60 years with normal hearing thresholds or symmetrical sensorineural hearing loss up to 70 dBHL, word-recognition score equal to or better than 70%, and diagnosed with central auditory processing disorders completed the study...
August 8, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28793961/hearing-loss-in-enlarged-vestibular-aqueduct-and-incomplete-partition-type-ii
#13
Emily Ahadizadeh, Mustafa Ascha, Nauman Manzoor, Amit Gupta, Maroun Semaan, Cliff Megerian, Todd Otteson
PURPOSE: The purpose of this work is to identify the role of incomplete partition type II on hearing loss among patients with enlarged vestibular aqueduct (EVA). BACKGROUND: EVA is a common congenital inner ear malformation among children with hearing loss, where vestibular aqueduct morphology in this population has been shown to correlate to hearing loss. However, the impact of incomplete partition between cochlear turns on hearing loss has not been, despite meaningful implications for EVA pathophysiology...
June 23, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28770443/how-to-proceed-with-examination-of-a-child
#14
REVIEW
Sonia Makhija, Poornima Tiwari
The assessment of a child is quite different from that of adults and requires knowledge of normal variations in anatomy and physiology with growth and development. An important part of initial assessment includes triage and recognizing children with emergency signs so that they can be managed at the earliest to prevent death and referred timely to the specialist. After ruling out emergency signs, the children with priority signs require prompt assessment, management and referral to the specialist. In addition to normal history as in adults, prenatal and birth history, developmental history, immunization history, feeding history and social history are important for complete assessment of the child...
August 3, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28764666/a-mega-ethnography-of-eleven-qualitative-evidence-syntheses-exploring-the-experience-of-living-with-chronic-non-malignant-pain
#15
Fran Toye, Kate Seers, Erin Hannink, Karen Barker
BACKGROUND: Each year over five million people develop chronic non-malignant pain and can experience healthcare as an adversarial struggle. The aims of this study were: (1) to bring together qualitative evidence syntheses that explore patients' experience of living with chronic non-malignant pain and develop conceptual understanding of what it is like to live with chronic non-malignant pain for improved healthcare; (2) to undertake the first mega-ethnography of qualitative evidence syntheses using the methods of meta-ethnography...
August 1, 2017: BMC Medical Research Methodology
https://www.readbyqxmd.com/read/28755567/microcephaly-and-zika-virus-neuroradiological-aspects-clinical-findings-and-a-proposed-framework-for-early-evaluation-of-child-development
#16
Nelci Adriana Cicuto Ferreira Rocha, Ana Carolina de Campos, Fellipe Cicuto Ferreira Rocha, Fernanda Pereira Dos Santos Silva
BACKGROUND AND AIMS: As the recent outbreak of microcephaly cases caused by Zika virus has been declared a global health emergency, providing assessment guidelines for multidisciplinary teams providing early developmental screening and stimulation to infants with microcephaly is much needed. Thus, the aim of this manuscript is to provide an overview on what is known about neuroradiological aspects and clinical findings in infants with microcephaly caused by Zika virus and to propose a framework for early evaluation of child development...
July 26, 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/28749193/validation-of-self-reported-hearing-loss-among-adult-croatians-the-performance-of-the-hearing-self-assessment-questionnaire-against-audiometric-evaluation
#17
Luka Bonetti, Boris Šimunjak, Jadranka Franić
OBJECTIVE: The aim of this study was to validate the performance of a self-assessment hearing loss screening tool for adults against audiometric evaluation. Different audiological measurements were compared with the results of a 10-item Likert-type questionnaire named the Hearing Self-Assessment Questionnaire (HSAQ) to investigate its psychometric characteristics. DESIGN: Participants underwent audiological evaluation and completed the HSAQ. The screening performance of the HSAQ was evaluated against three definitions of hearing loss: better-ear mean pure-tone thresholds >25 dBHL at 500-2000 Hz, 500-4000 Hz and 1000-4000 Hz...
July 27, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28744234/on-hearing-voices-and-seeing-things-probing-hallucination-predisposition-in-a-portuguese-nonclinical-sample-with-the-launay-slade-hallucination-scale-revised
#18
Paula Castiajo, Ana P Pinheiro
The experience of hallucinations is a hallmark of psychotic disorders, but they are also present in other psychiatric and medical conditions, and may be reported in nonclinical individuals. Despite the increased number of studies probing the incidence of nonclinical hallucinations, the underlying phenomenological characteristics are still poorly understood. This study aimed to examine the psychometrics proprieties of the Portuguese adaptation of the 16-item Launay-Slade Hallucinations Scale (LSHS), the phenomenological characteristics of nonclinical hallucinatory experiences in a Portuguese sample, and the relationship between clinical symptoms and hallucination predisposition...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28742261/the-clinical-characteristics-and-audiogram-in-103-meniere-disease-patients-with-and-without-vestibular-migraine
#19
Yixu Wang, Tongxiang Diao, Yixin Zhao, Lisheng Yu
1 There was a close relationship between MD and VM. 48 MD patients(46.6%) had VM, 18 MD patients (17.5%)were probable to have VM. 2 MD patients with VM have better hearing than those without VM at 500 Hz, 1000Hz, and 2000Hz. 3 Among MD patients with VM, the mean monthly frequency of vertigo attack was 7.1,which can differ significantly from those among MD patients with probable VM and those without VM.(P<0.01). 4 The female MD patients were 7.92 times to have VM than male MD patients(95% CI, 2.97 to 21.08; P=0...
July 25, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28738350/unilateral-sensorineural-hearing-loss-medical-context-and-etiology
#20
Antoine Paul, Sandrine Marlin, Marine Parodi, Isabelle Rouillon, Joanne Guerlain, Véronique Pingault, Vincent Couloigner, Erea Noel Garabedian, Françoise Denoyelle, Natalie Loundon
OBJECTIVE: Unilateral sensorineural hearing loss (USNHL) is known to impact on school performance and social skills during childhood, but the etiologies remain unclear. The aim of this study was to assess various etiologies and to study the clinical contexts in this population. METHODS: The study is a retrospective review. Characteristics of hearing loss (HL), audiometric parameters, imaging, and genetic and medical contexts were analyzed. RESULTS: Eighty children were included...
July 22, 2017: Audiology & Neuro-otology
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