keyword
MENU ▼
Read by QxMD icon Read
search

Hearing screening

keyword
https://www.readbyqxmd.com/read/29907799/utility-and-limitations-of-exome-sequencing-as-a-genetic-diagnostic-tool-for-children-with-hearing-loss
#1
Sarah Sheppard, Sawona Biswas, Mindy H Li, Vijayakumar Jayaraman, Ian Slack, Edward J Romasko, Ariella Sasson, Joshua Brunton, Ramakrishnan Rajagopalan, Mahdi Sarmady, Jenica L Abrudan, Sowmya Jairam, Elizabeth T DeChene, Xiahoan Ying, Jiwon Choi, Alisha Wilkens, Sarah E Raible, Maria I Scarano, Avni Santani, Jeffrey W Pennington, Minjie Luo, Laura K Conlin, Batsal Devkota, Matthew C Dulik, Nancy B Spinner, Ian D Krantz
PURPOSE: Hearing loss (HL) is the most common sensory disorder in children. Prompt molecular diagnosis may guide screening and management, especially in syndromic cases when HL is the single presenting feature. Exome sequencing (ES) is an appealing diagnostic tool for HL as the genetic causes are highly heterogeneous. METHODS: ES was performed on a prospective cohort of 43 probands with HL. Sequence data were analyzed for primary and secondary findings. Capture and coverage analysis was performed for genes and variants associated with HL...
June 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29905669/refinement-and-validation-of-the-social-participation-restrictions-questionnaire-an-application-of-rasch-analysis-and-traditional-psychometric-analysis-techniques
#2
Eithne Heffernan, David W Maidment, Johanna G Barry, Melanie A Ferguson
OBJECTIVES: The primary aim of this research was to refine and validate the Social Participation Restrictions Questionnaire (SPaRQ). The SPaRQ is a hearing-specific, patient-reported outcome measure that was originally developed through consultation with adults with hearing loss, clinicians, and researchers. This research comprised two studies. Study 1 aimed to assess the psychometric properties of the SPaRQ and to improve these properties by amending the questionnaire (e.g., removing items) as required...
June 13, 2018: Ear and Hearing
https://www.readbyqxmd.com/read/29903800/perceptions-of-overdetection-of-breast-cancer-among-women-70-years-of-age-and-older-in-the-usa-a-mixed-methods-analysis
#3
Monique R Pappadis, Robert J Volk, Shilpa Krishnan, Susan C Weller, Elizabeth Jaramillo, Diana Stewart Hoover, Sharon H Giordano, Alai Tan, Kristin M Sheffield, Ashley J Housten, James S Goodwin
OBJECTIVES: Current research on the perceptions of overdiagnosis or overdetection of breast cancer has largely been conducted outside of the USA and with women younger than 70 years.Therefore, we explored older women's perceptions about the concept of overdetection of breast cancer and its influence on future screening intentions. DESIGN: Mixed-methods analysis using purposive sampling based on race/ethnicity, age and educational level. Semistructured interviews, including two hypothetical scenarios illustrating benefits and harms of screening and overdetection, were analysed using inductive and deductive thematic approaches...
June 14, 2018: BMJ Open
https://www.readbyqxmd.com/read/29899460/mutation-screening-of-the-ush2a-gene-in-retinitis-pigmentosa-and-usher-patients-in-a-han-chinese-population
#4
Lulin Huang, Yao Mao, Jiyun Yang, Yuanfeng Li, Yang Li, Zhenglin Yang
OBJECTIVES: USH2A encodes for usherin, a basement membrane protein in the inner ear and retina. USH2A can cause retinitis pigmentosa (RP) with or without hearing loss. The aim of this study was to detect USH2A mutations in a Chinese cohort of 75 small RP families and 10 Usher syndrome families. METHODS: We performed a direct Sanger sequencing analysis of the USH2A gene to identify mutations for this cohort. RESULTS: We identified a total of eight mutations in four of the 75 small RP families (5...
June 13, 2018: Eye
https://www.readbyqxmd.com/read/29898787/sex-bias-in-basic-and-preclinical-age-related-hearing-loss-research
#5
REVIEW
Dillan F Villavisanis, Katrina M Schrode, Amanda M Lauer
OBJECTIVES: This study aims to determine if there is sex bias in basic and preclinical research on age-related hearing loss for the 10-year period of 2006-2015, prior to the NIH mandate of including sex as a biological variable in 2016. DESIGN: Manuscripts were identified in PubMed for the query "age-related hearing loss" for the 10-year period of 2006 to 2015. Manuscripts were included if they were original research (not reviews or meta-analyses), written in English, contained an abstract, used animals, and were primarily on age-related hearing loss...
June 13, 2018: Biology of Sex Differences
https://www.readbyqxmd.com/read/29889784/role-of-targeted-next-generation-sequencing-in-the-etiological-work-up-of-congenitally-deaf-children
#6
An Boudewyns, Jenneke van den Ende, Manou Sommen, Wim Wuyts, Nils Peeters, Paul Van de Heyning, Guy Van Camp
OBJECTIVES: The purpose of this study is to report the results of a comprehensive etiological work-up for congenitally deaf children including targeted next generation sequencing. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: Fifty children with congenital, bilateral profound hearing loss (HL) (>90 dBnHL). INTERVENTIONS: Etiological work-up included testing for pathogenic variants in GJB2, a phenotype driven genetic analysis, screening for congenital infections and imaging...
July 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29884797/a-novel-frameshift-deletion-in-pls3-causing-severe-primary-osteoporosis
#7
Alice Costantini, Panagiotis Ν Krallis, Anders Kämpe, Emmanouil M Karavitakis, Fulya Taylan, Outi Mäkitie, Artemis Doulgeraki
Mutations in the gene encoding plastin-3, PLS3, have recently been associated to severe primary osteoporosis. The molecular function of plastin-3 is not fully understood. Since PLS3 is located on the X chromosome, males are usually more severely affected than females. PLS3 mutations have thus far been reported in approximately 20 young patients with low bone mineral density (BMD). We describe an 8-year-old Greek boy with severe primary osteoporosis with multiple vertebral compression fractures and one low-energy long bone fracture...
June 8, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29883260/identification-of-two-novel-compound-heterozygous-mutations-of-adgrv1-in-a-chinese-family-with-usher-syndrome-type-iic
#8
Nian Zhang, Juan Wang, Shuting Liu, Mugen Liu, Fagang Jiang
BACKGROUND: To describe the clinical and genetic findings in a Chinese family with three sibs diagnosed with Usher syndrome type IIC. MATERIALS AND METHODS: Four members received ophthalmic and otologic tests to ascertain the clinical characteristics. According to the clinical phenotype, we focused attention on a total of 658 genes associated with them. We screened the possible pathogenic mutation sites, used Sanger to exclude the false positive and verified whether there were co-segregated among the family members...
June 8, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29876232/the-mitochondrial-coi-trna-ser-ucn-g7444a-mutation-may-be-associated-with-hearing-impairment-in-a-han-chinese-family
#9
Ding Y, Xia B-H, Teng Y-S, Zhuo G-C, Leng J-H
Variations in mitochondrial genome have been found to be associated with hearing loss. Of these, the mitochondrial 12S rRNA and tRNASer(UCN) are the hot-spots for pathogenic variants associated with deafness. To understand the putative role of mitochondrial DNA (mtDNA) variants in hearing loss, we recently screened the variants in mitochondrial genomes in patients with deafness from the Hangzhou area of Zhejiang Province, People's Republic of China (PRC). In this study, we describe a maternally-inherited Han Chinese family with high penetrance of hearing loss, notably, the penetrance of hearing loss in this family were 80...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29872546/guided-genetic-screen-to-identify-genes-essential-in-the-regeneration-of-hair-cells-and-other-tissues
#10
Wuhong Pei, Lisha Xu, Sunny C Huang, Kade Pettie, Jennifer Idol, Alberto Rissone, Erin Jimenez, Jason W Sinclair, Claire Slevin, Gaurav K Varshney, MaryPat Jones, Blake Carrington, Kevin Bishop, Haigen Huang, Raman Sood, Shuo Lin, Shawn M Burgess
Regenerative medicine holds great promise for both degenerative diseases and traumatic tissue injury which represent significant challenges to the health care system. Hearing loss, which affects hundreds of millions of people worldwide, is caused primarily by a permanent loss of the mechanosensory receptors of the inner ear known as hair cells. This failure to regenerate hair cells after loss is limited to mammals, while all other non-mammalian vertebrates tested were able to completely regenerate these mechanosensory receptors after injury...
2018: NPJ Regenerative Medicine
https://www.readbyqxmd.com/read/29863463/objective-hearing-screening-measures-an-exploration-of-a-suitable-combination-for-risk-based-newborn-hearing-screening
#11
Amisha Kanji, Katijah Khoza-Shangase
BACKGROUND: The ideal hearing screening measure is yet to be defined, with various newborn hearing screening protocols currently being recommended for different contexts. Such diverse recommendations call for further exploration and definition of feasible and context-specific protocols. PURPOSE: The aim of the study was to establish which combinations of audiological screening measures provide both true-positive (TP) and true-negative (TN) results for risk-based hearing screening, at and across time...
June 2018: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/29859595/is-there-a-clinical-application-for-tablet-based-automated-audiometry-in-children
#12
Olivia Pereira, Lauren E Pasko, Jenna Supinski, Mackenzie Hammond, Thierry Morlet, Kyoko Nagao
INTRODUCTION: Recent research supports the clinical use of automated audiometry for pediatric hearing screenings. However, very few studies have tested whether tablet-based automated audiometry can offer a valid alternative to traditional manual audiometry for estimation of hearing thresholds in children. This study examined the validity and efficiency of automated audiometry in school-aged children. METHODS: Hearing thresholds for 0.5, 1, 2, 4, 6, and 8 kHz were collected in 32 children ages 6-12 years using standard audiometry and tablet-based automated audiometry in a soundproof booth...
July 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29859592/preschool-hearing-screening-in-sweden-an-evaluation-of-current-practices-and-a-presentation-of-new-national-guidelines
#13
Karin Stenfeldt
OBJECTIVES: As the various regional authorities responsible for health care in Sweden operate independently, no knowledge was available on pre-school hearing screening available to children living in different parts of the country. The aim of this study was to carry out a survey to ascertain how preschool hearing screening was performed in the various regions of Sweden. An objective of the present paper was also to present the uniform national guidelines for pre-school hearing screening that were launched by health authorities and were based on this study...
July 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29859584/state-of-deaf-children-in-west-bengal-india-what-can-be-done-to-improve-outcome
#14
Suniti Chakrabarti
OBJECTIVE: Prelingual deafness in children demands urgent action as best outcome is dependent on earliest possible diagnosis and intervention. Objective of this study was to determine age of suspicion, diagnosis, intervention, and outcome in a representative group of deaf children in West Bengal, India, and suggest ways of improving these parameters. METHODS: In this cross-sectional study, ages of suspicion, diagnosis, intervention and outcome of 303 randomly selected deaf children were elicited from a cohort of 1316 children with deafness identified in an earlier study...
July 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29859580/detection-of-abnormally-shaped-ears-by-a-trained-non-specialist-allows-for-early-non-surgical-intervention
#15
Daphne Y D Lu, Julie Pauwels, Lisa Jin, Frederick K Kozak, Neil K Chadha
INTRODUCTION: Many children are born with abnormally-shaped ears, including protruding ears or unusually-shaped outer ears. While the majority are benign, these may cause significant issues with self-esteem and bullying in childhood. Early molding can resolve some of these abnormalities, avoiding the need for future corrective surgery. However, newborns with these abnormalities are rarely identified early, within the first few days of life, when molding is most effective. In this study, we investigate whether a trained non-specialist can correctly identify ear shape abnormalities in newborns...
July 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29849560/three-myo15a-mutations-identified-in-one-chinese-family-with-autosomal-recessive-nonsyndromic-hearing-loss
#16
Fengguo Zhang, Lei Xu, Yun Xiao, Jianfeng Li, Xiaohui Bai, Haibo Wang
Hearing impairment is one of the most common sensory disease, of which more than 50% is attributed to a genetic etiology. The goal of this research is to explore the genetic cause of a Chinese deafness pedigree who was excluded of GJB2 , SLC26A4 , or MtDNA12SrRNA variants. Three variants, c.3971C>A (p.A1324D), c.4011insA (p.Q1337Qfs∗ 22), and c.9690+1G>A, in the MYO15A gene were identified by targeted capture sequencing and Sanger sequencing, and the first two of them were novel. These variants were cosegregated with the disease in this family and absent in 200 normal hearing persons...
2018: Neural Plasticity
https://www.readbyqxmd.com/read/29805548/analysis-of-mitochondrial-a1555g-mutation-in-infants-with-hearing-impairment
#17
Lihua Wu, Ruiyu Li, Juan Chen, Yanping Chen, Meijun Yang, Qing Wu
Mutations in the mitochondrial 12S ribosomal RNA gene have been identified to be associated with deafness. Among these, the A to G transition at position 1555 is one of the most common pathogenic mutations associated with hearing loss. In order to evaluate the allele frequency of this mutation in infants with hearing loss, the A1555G mutation was screened in 300 deaf children and 100 age- and sex-matched healthy subjects. Consequently, 5 patients with this mutation were identified, whereas the mutation was absent in healthy controls...
June 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29800988/the-effect-of-presentation-level-on-the-scan-3-in-children-and-adults
#18
Tina M Stoody, Chelsea E Cottrell
Purpose: The pediatric and adult versions of the SCAN-3 test (Keith, 2009a, 2009b) are widely used to screen and diagnose auditory processing disorders. According to the instruction manual, the test administration is flexible in that it may be administered through an audiometer at 50 dB HL or a portable CD player at the patient or administrator's most comfortable listening level (MCL). Because MCL may vary across individuals, even in those with normal hearing sensitivity, this study explored whether the presentation level affected scores on the SCAN-3 for both pediatric and adult populations...
May 3, 2018: American Journal of Audiology
https://www.readbyqxmd.com/read/29800116/could-the-use-of-acoustic-reflexes-prior-to-administering-distortion-product-otoacoustic-emissions-dpoaes-affect-the-results-of-dpoaes
#19
Rachel Garrette, Alisha L Jones, Martha W Wilson
Purpose: The purpose of this study is to investigate whether acoustic reflex threshold testing before administration of distortion product otoacoustic emissions can affect the results of the distortion product otoacoustic emissions testing using an automated protocol. Method: Fifteen young adults with normal hearing ranging in age from 19 to 25 years participated in the study. All participants had clear external ear canals and normal Jerger Type A tympanograms and had passed a hearing screening...
May 15, 2018: American Journal of Audiology
https://www.readbyqxmd.com/read/29800000/identification-of-pure-tone-audiologic-thresholds-for-pediatric-cochlear-implant-candidacy-a-systematic-review
#20
Jasper L de Kleijn, Ludwike W M van Kalmthout, Martijn J B van der Vossen, Bernard M D Vonck, Vedat Topsakal, Hanneke Bruijnzeel
Importance: Although current guidelines recommend cochlear implantation only for children with profound hearing impairment (HI) (>90 decibel [dB] hearing level [HL]), studies show that children with severe hearing impairment (>70-90 dB HL) could also benefit from cochlear implantation. Objective: To perform a systematic review to identify audiologic thresholds (in dB HL) that could serve as an audiologic candidacy criterion for pediatric cochlear implantation using 4 domains of speech and language development as independent outcome measures (speech production, speech perception, receptive language, and auditory performance)...
May 24, 2018: JAMA Otolaryngology—Head & Neck Surgery
keyword
keyword
86882
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"