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https://www.readbyqxmd.com/read/29050102/-research-progress-on-the-etiology-of-delayed-onset-hearing-loss-in-children
#1
X Y Wang, L H Huang, Y T Du
Newborn hearing screening is an effective method for early detection of hearing loss, however, it is not able to detect delayed-onset hearing loss. By exploring the etiology of delayed-onset hearing loss in children, it can provide a clinical basis for early detection of delayed-onset hearing loss. Mutations in SLC26A4, mitochondrial, GJB2 and other genes, enlarged vestibular aqueduct, congenital cytomegalovirus infection, extracorporeal membrane oxygenation, and auditory neuropathy et al were more commonly reported risk factors...
October 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/29049630/reflections-on-lake-como-conferences-2000-2016
#2
Ferdinando Grandori, Deborah Hayes
We present an overview of the conceptualization and development of the Newborn Hearing Screening and Hearing Across the Lifespan (Lake Como) conferences from 2000 to 2016.
October 12, 2017: American Journal of Audiology
https://www.readbyqxmd.com/read/29049625/a-goldilocks-approach-to-hearing-aid-self-fitting-user-interactions
#3
Arthur Boothroyd, Carol Mackersie
Purpose: The purpose of the current study was to evaluate user reactions to custom software designed for self-adjustment of amplification. Method: "Goldilocks" software was developed to allow user exploration and selection of preferred levels of overall output, low-frequency cut, and high-frequency boost while listening to preprocessed speech. Thirteen hearing-aid users and 13 nonusers self-adjusted before and after taking a speech perception test incorporated into the software...
October 12, 2017: American Journal of Audiology
https://www.readbyqxmd.com/read/29049620/diagnosing-and-screening-in-a-minority-language-a-validation-study
#4
Melanie A Zokoll, Kirsten C Wagener, Birger Kollmeier
Purpose: The Turkish Digit Triplet Test for hearing self-screening purposes and the Turkish Matrix Test (TURMatrix) for follow-up hearing diagnostics offer an automated closed-set response format where patients respond by choosing from response alternatives. Their applicability for testing Turkish-speaking patients in their native language by German audiologists with different Turkish language skills was investigated. Method: Tests were composed of spoken numbers (Turkish Digit Triplet Test) or sentences (TURMatrix)...
October 12, 2017: American Journal of Audiology
https://www.readbyqxmd.com/read/29049277/update-interim-guidance-for-the-diagnosis-evaluation-and-management-of-infants-with-possible-congenital-zika-virus-infection-united-states-october-2017
#5
Tolulope Adebanjo, Shana Godfred-Cato, Laura Viens, Marc Fischer, J Erin Staples, Wendi Kuhnert-Tallman, Henry Walke, Titilope Oduyebo, Kara Polen, Georgina Peacock, Dana Meaney-Delman, Margaret A Honein, Sonja A Rasmussen, Cynthia A Moore
CDC has updated its interim guidance for U.S. health care providers caring for infants with possible congenital Zika virus infection (1) in response to recently published updated guidance for health care providers caring for pregnant women with possible Zika virus exposure (2), unknown sensitivity and specificity of currently available diagnostic tests for congenital Zika virus infection, and recognition of additional clinical findings associated with congenital Zika virus infection. All infants born to mothers with possible Zika virus exposure* during pregnancy should receive a standard evaluation at birth and at each subsequent well-child visit including a comprehensive physical examination, age-appropriate vision screening and developmental monitoring and screening using validated tools (3-5), and newborn hearing screen at birth, preferably using auditory brainstem response (ABR) methodology (6)...
October 20, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29048736/novel-recessive-pdzd7-biallelic-mutations-in-two-chinese-families-with-non-syndromic-hearing-loss
#6
Jing Guan, Hongyang Wang, Lan Lan, Li Wang, Ju Yang, Linyi Xie, Zifang Yin, Wenping Xiong, Lidong Zhao, Dayong Wang, Qiuju Wang
Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous genetic condition. PDZD7 has emerged as a new genetic etiology of ARNSHL. Biallelic mutations in the PDZD7 gene have been reported in two German families, four Iranian families, and a Pakistani family with ARNSHL. The effect of PDZD7 on ARNSHL in other population has yet to be elucidated. Two Chinese ARNSHL families, each of which had two affected siblings, were included in this study. The families underwent target region capture and high-throughput sequencing to analyze the exonic, splice-site, and intronic sequences of 128 genes...
October 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29048421/recurrent-variants-in-otof-are-significant-contributors-to-prelingual-nonsydromic-hearing-loss-in-saudi-patients
#7
Naif A M Almontashiri, Abdulrahman Alswaid, Andrea Oza, Khalid A Al-Mazrou, Omnia Elrehim, Ahmad Abou Tayoun, Heidi L Rehm, Sami S Amr
PurposeHearing loss is more prevalent in the Saudi Arabian population than in other populations; however, the full range of genetic etiologies in this population is unknown. We report the genetic findings from 33 Saudi hearing-loss probands of tribal ancestry, with predominantly prelingual severe to profound hearing loss.MethodsTesting was performed over the course of 2012-2016, and involved initial GJB2 sequence and GJB6-D13S1830 deletion screening, with negative cases being reflexed to a next-generation sequencing panel with 70, 71, or 87 hearing-loss genes...
October 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29047013/behavioral-animal-model-of-the-emotional-response-to-tinnitus-and-hearing-loss
#8
Amanda M Lauer, Gail Larkin, Aikeen Jones, Bradford J May
Increased prevalence of emotional distress is associated with tinnitus and hearing loss. The underlying mechanisms of the negative emotional response to tinnitus and hearing loss remain poorly understood, and it is challenging to disentangle the emotional consequences of hearing loss from those specific to tinnitus in listeners experiencing both. We addressed these questions in laboratory rats using three common rodent anxiety screening assays: elevated plus maze, open field test, and social interaction test...
October 18, 2017: Journal of the Association for Research in Otolaryngology: JARO
https://www.readbyqxmd.com/read/29045255/listening-to-relaxing-music-improves-physiological-responses-in-premature-infants-a-randomized-controlled-trial
#9
Rafael A Caparros-Gonzalez, Alejandro de la Torre-Luque, Carolina Diaz-Piedra, Francisco J Vico, Gualberto Buela-Casal
BACKGROUND: Premature infants are exposed to high levels of noise in the neonatal intensive care unit (NICU). PURPOSE: This study evaluated the effect of a relaxing music therapy intervention composed by artificial intelligence on respiratory rate, systolic and diastolic blood pressure, and heart rate. METHODS: A double-blind, randomized, controlled trial was conducted in the NICUs of 2 general public hospitals in Andalusia, Spain. Participants were 17 healthy premature infants, randomly allocated to the intervention group or the control group (silence) at a 1:1 ratio...
October 17, 2017: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/29032597/more-than-two-years-follow-up-of-infants-with-congenital-cytomegalovirus-infection-in-japan
#10
Shin Koyano, Ichiro Morioka, Akira Oka, Hiroyuki Moriuchi, Kimisato Asano, Yushi Ito, Tetsushi Yoshikawa, Hideto Yamada, Tatsuo Suzutani, Naoki Inoue
BACKGROUND: The aim of the study was to evaluate outcomes of congenital cytomegalovirus (CMV) cases identified by our urine-filter screening assay after follow-up for more than 2 years, and to observe the clinical outcomes after anti-CMV therapies. METHODS: Sixty of the 72 congenital CMV cases were enrolled. Forty-three cases asymptomatic at birth, 7 cases symptomatic at birth but untreated with anti-CMV drugs, and 10 symptomatic cases treated with anti-CMV drugs were clinically observed for more than 2 years...
October 15, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29026089/a-large-scale-hearing-loss-screen-reveals-an-extensive-unexplored-genetic-landscape-for-auditory-dysfunction
#11
Michael R Bowl, Michelle M Simon, Neil J Ingham, Simon Greenaway, Luis Santos, Heather Cater, Sarah Taylor, Jeremy Mason, Natalja Kurbatova, Selina Pearson, Lynette R Bower, Dave A Clary, Hamid Meziane, Patrick Reilly, Osamu Minowa, Lois Kelsey, Glauco P Tocchini-Valentini, Xiang Gao, Allan Bradley, William C Skarnes, Mark Moore, Arthur L Beaudet, Monica J Justice, John Seavitt, Mary E Dickinson, Wolfgang Wurst, Martin Hrabe de Angelis, Yann Herault, Shigeharu Wakana, Lauryl M J Nutter, Ann M Flenniken, Colin McKerlie, Stephen A Murray, Karen L Svenson, Robert E Braun, David B West, K C Kent Lloyd, David J Adams, Jacqui White, Natasha Karp, Paul Flicek, Damian Smedley, Terrence F Meehan, Helen E Parkinson, Lydia M Teboul, Sara Wells, Karen P Steel, Ann-Marie Mallon, Steve D M Brown
The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains...
October 12, 2017: Nature Communications
https://www.readbyqxmd.com/read/29025832/feasibility-and-acceptability-of-training-community-health-workers-in-ear-and-hearing-care-in-malawi-a-cluster-randomised-controlled-trial
#12
Wakisa Mulwafu, Hannah Kuper, Asgaut Viste, Frederik K Goplen
OBJECTIVE: To assess the feasibility and acceptability of training community health workers (CHWs) in ear and hearing care, and their ability to identify patients with ear and hearing disorders. DESIGN: Cluster randomised controlled trial (RCT). SETTING: Health centres in Thyolo district, Malawi. PARTICIPANTS: Ten health centres participated, 5 intervention (29 CHWs) and 5 control (28 CHWs). INTERVENTION: Intervention CHWs received 3 days of training in primary ear and hearing care, while among control CHWs, training was delayed for 6 months...
October 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/29025012/enhancing-ear-and-hearing-health-access-for-children-with-technology-and-connectivity
#13
De Wet Swanepoel
Purpose: Technology and connectivity advances are demonstrating increasing potential to improve access of service delivery to persons with hearing loss. This article demonstrates use cases from community-based hearing screening and automated diagnosis of ear disease. Method: This brief report reviews recent evidence for school- and home-based hearing testing in underserved communities using smartphone technologies paired with calibrated headphones. Another area of potential impact facilitated by technology and connectivity is the use of feature extraction algorithms to facilitate automated diagnosis of most common ear conditions from video-otoscopic images...
October 12, 2017: American Journal of Audiology
https://www.readbyqxmd.com/read/29024829/distal-renal-tubular-acidosis-in-a-libyan-patient-evidence-for-digenic-inheritance
#14
Majdi Nagara, Gregori Papagregoriou, Rim Ben Abdallah, Zied Landoulsi, Yosra Bouyacoub, Sahar Elouej, Rym Kefi, Tommaso Pippucci, Voskarides Konstantinos, Anu Bashamboo, Kenneth McElreavey, Mongia Hachicha, Giovanni Romeo, Marco Seri, Constantinos Deltas, Sonia Abdelhak
AIM OF THE STUDY: Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations in ATP6V1B1 and ATP6V0A4 are usually responsible for the recessive form of the disease. Mutations in gene AE1 encoding the Cl-/HCO3- exchanger, usually present as dominant dRTA, but a recessive pattern has been recently described. Our objective is to identify the mutational spectrum responsible of dRTA in a consanguineous Libyan family...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29018324/design-and-characterization-of-a-human-monoclonal-antibody-that-modulates-mutant-connexin-26-hemichannels-implicated-in-deafness-and-skin-disorders
#15
Liang Xu, Andrea Carrer, Francesco Zonta, Zhihu Qu, Peixiang Ma, Sheng Li, Federico Ceriani, Damiano Buratto, Giulia Crispino, Veronica Zorzi, Gaia Ziraldo, Francesca Bruno, Chiara Nardin, Chiara Peres, Flavia Mazzarda, Anna M Salvatore, Marcello Raspa, Ferdinando Scavizzi, Youjun Chu, Sichun Xie, Xuemei Yang, Jun Liao, Xiao Liu, Wei Wang, Shanshan Wang, Guang Yang, Richard A Lerner, Fabio Mammano
Background: Mutations leading to changes in properties, regulation, or expression of connexin-made channels have been implicated in 28 distinct human hereditary diseases. Eight of these result from variants of connexin 26 (Cx26), a protein critically involved in cell-cell signaling in the inner ear and skin. Lack of non-toxic drugs with defined mechanisms of action poses a serious obstacle to therapeutic interventions for diseases caused by mutant connexins. In particular, molecules that specifically modulate connexin hemichannel function without affecting gap junction channels are considered of primary importance for the study of connexin hemichannel role in physiological as well as pathological conditions...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29018206/tumor-penetrating-delivery-of-sirna-against-tnf%C3%AE-to-human-vestibular-schwannomas
#16
Yin Ren, Jessica E Sagers, Lukas D Landegger, Sangeeta N Bhatia, Konstantina M Stankovic
Vestibular schwannoma (VS) is the most common tumor of the cerebellopontine angle, and it typically presents with sensorineural hearing loss. The genomic landscape of schwannoma is complex and many of the molecules implicated in VS pathogenesis represent targets not amenable to antibody-based or small molecule therapeutics. Tumor-targeted delivery of small interfering RNA (siRNA) therapeutics provides a direct and effective means to interrogate targets while minimizing off-target effects. To establish a preclinical model for therapeutic inhibition of putative targets in VS, archived tumor specimens, fresh tumor cells derived from patients with sporadic VS, and an established schwannoma cell line were screened...
October 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29017358/is-there-evidence-for-the-added-value-and-correct-use-of-manual-and-automatically-switching-multimemory-hearing-devices-a-scoping-review
#17
Feike de Graaff, Elke Huysmans, Johannes C F Ket, Paul Merkus, S Theo Goverts, C René Leemans, Cas Smits
OBJECTIVES: To review literature on the use of manual and automatically switching multimemory devices by hearing aid and CI recipients, and to investigate if recipients appreciate and adequately use the ability to switch between programmes in various listening environments. DESIGN: Literature was searched using PubMed, Embase and ISI/Web of Science. Additional studies were identified by screening reference and citation lists, and by contacting experts. STUDY SAMPLE: The search yielded 1109 records that were screened on title and abstract...
October 10, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/29016196/prevalence-of-gjb2-mutations-in-affected-individuals-from-united-arab-emirates-with-autosomal-recessive-nonsyndromic-hearing-loss
#18
Abdelaziz Tlili, Abdullah Al Mutery, Walaa Kamal Eddine Ahmad Mohamed, Mona Mahfood, Hassen Hadj Kacem
AIM: Mutations in the gap junction protein beta 2 (GJB2) gene are responsible for more cases of nonsyndromic recessive hearing loss than any other gene. The purpose of our study was to evaluate the prevalence of GJB2 mutations among affected individuals from United Arab Emirates (UAE). METHODS: There were 50 individuals diagnosed with hereditary hearing loss and 120 healthy individuals enrolled in the study. The Sanger sequencing method was used to screen the GJB2 coding region in all affected individuals...
October 10, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28994194/positive-experiences-related-to-living-with-tinnitus-a-cross-sectional-survey
#19
Eldré W Beukes, Vinaya Manchaiah, Taylor E Valien, David M Baguley, Peter M Allen, Gerhard Andersson
OBJECTIVE: The aim of this study was to gain insights related to positive experiences reported by adults with tinnitus living in the UK. DESIGN: A cross-sectional survey design was used in a sample of adults with tinnitus who were interested in undertaking an Internet-based intervention for tinnitus. SETTING: The study was UK wide and data collection was online. PARTICIPANTS: Participants consisted of 240 adults (137 males, 103 females), with an average age of 48...
October 9, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28990963/terrible-twos-or-early-signs-of-psychopathology-developmental-patterns-in-early-identified-preschoolers-with-cochlear-implants-compared-with-hearing-controls
#20
Anouk P Netten, Carolien Rieffe, Lizet Ketelaar, Wim Soede, Kenneth D Gadow, Johan H M Frijns
OBJECTIVE: Cochlear implants (CIs) have dramatically improved the lives of children who are deaf or hard of hearing; however, little is known about its implications for preventing the development of psychiatric symptoms in this at-risk population. This is the first longitudinal study to examine the early manifestation of emotional and behavioral disorders and associated risk and protective factors in early identified preschoolers with CIs compared with hearing peers. DESIGN: Participants were 74 children with CIs and 190 hearing controls between ages 1 and 5 years (mean age, 3...
October 4, 2017: Ear and Hearing
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