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https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#1
Tomoe Kira-Koizumi, Nobuyuki Mitsukawa, Tadashi Morishita, Shinsuke Akita, Yoshitaka Kubota, Kaneshige Satoh
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28538047/auditory-processing-disorder-what-does-it-mean-and-what-can-be-done
#2
Krista Bartlett, Elissa Kelley, Julie Purdy, Martin T Stein
Julian, an 11-year-old boy in the sixth grade with a compliant disposition and a positive attitude, has had a significant decline in his academic performance over the last 2 years. He spends much of his time in the nurse's office with headaches and fatigue. He reports that he cannot concentrate or follow along in class. Vision and hearing screenings were normal.Julian's teachers report that although he has no behavior problem, he is inattentive and does not put forth the effort she feels he is capable of giving...
May 22, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28530068/-newborn-discharge-letter-as-a-communication-document-for-continuity-of-care
#3
Jacob Urkin, Zachi Grossman, Gil Chapnick, Daniella Landau
AIMS: To check information items in newborn discharge letters from various delivery rooms and compare them to the expectations of community pediatricians. BACKGROUND: The newborn discharge letter is the document that supports the transition of care from the hospital stay to life at home and in the community. It usually summarizes medical information related to the baby's family, maternal pregnancies, delivery and the stay in hospital until discharge. It is primarily a communication tool between healthcare professionals...
November 2016: Harefuah
https://www.readbyqxmd.com/read/28520533/a-fully-automated-high-throughput-zebrafish-behavioral-ototoxicity-assay
#4
Douglas W Todd, Rohit C Philip, Maki Niihori, Ryan A Ringle, Kelsey R Coyle, Sobia F Zehri, Jordan A Mudery, Ross H Francis, Jeffrey J Rodriguez, Abraham Jacob
Zebrafish animal models lend themselves to behavioral assays that can facilitate rapid screening of ototoxic, otoprotective, and otoregenerative drugs. Structurally similar to human inner ear hair cells, the mechanosensory hair cells on their lateral line allow the zebrafish to sense water flow and orient head-to-current in a behavior called rheotaxis. This rheotaxis behavior deteriorates in a dose-dependent manner with increased exposure to the ototoxin cisplatin, thereby establishing itself as an excellent biomarker for anatomic damage to lateral line hair cells...
May 18, 2017: Zebrafish
https://www.readbyqxmd.com/read/28520325/-newborn-infants-first-outpatient-visit
#5
V Rigo, C Pieltain, C Schoffeniels, M Kalenga, J L Belche
The focus on outpatient follow-up of newborn infants increases as the duration of hospital stay after birth decreases. The first outpatient visit addresses the adequacy of the home transition. Appropriate feedings are checked. Sudden infant death syndrome prevention and security advices are reminded. Realisation of both neonatal dried blood screen and hearing test is confirmed, as well as planning of specific follow-up appointments. The physical exam will focus on red flags for diseases or malformations with a delayed presentation...
May 2017: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28514357/-the-results-of-universal-audiological-screening-of-newborn-infants-in-the-astrakhan-region
#6
N A Daykhes, E A Grigor'eva, Yu V Nazarochkin, V M Davydov, A O Kuznetsov
We have evaluated the results of universal audiological screening of 93 352 newborn infants performed in the Astrakhan region of the Russian Federation during the period from 2009 till 2015. The screening coverage amounted to 95%. The prevalence of hearing disorders was estimated at 1:1111 and that of their severe forms at 1:3000. The clinical significance of the examination during its first stage consists of the exclusion of evoked otoacoustic emission. After the completion of the second stage, it is necessary to carry out the regular medical follow up observation of the children suffering from hearing impairment and to undertake the early rehabilitative treatment based on the application of hearing aids and prosthetic devices...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/28505178/a-reverse-dot-blot-assay-for-the-screening-of-twenty-mutations-in-four-genes-associated-with-nshl-in-a-chinese-population
#7
Siping Li, Qi Peng, Shengyun Liao, Wenrui Li, Qiang Ma, Xiaomei Lu
BACKGROUND: Congenital deafness is one of the most distressing disorders affecting humanity and exhibits a high incidence worldwide. Most cases of congenital deafness in the Chinese population are caused by defects in a limited number of genes. A convenient and reliable method for detecting common deafness-related gene mutations in the Chinese population is required. METHODS: We developed a PCR-reverse dot blot (RDB) assay for screening 20 hotspot mutations of GJB2, GJB3, SLC26A4, and MT-RNR1, which are common non-syndromic hearing loss (NSHL)-associated genes in the Chinese population...
2017: PloS One
https://www.readbyqxmd.com/read/28495044/cognitive-and-academic-outcomes-in-long-term-survivors-of-infantile-onset-pompe-disease-a-longitudinal-follow-up
#8
Gail A Spiridigliozzi, Lori A Keeling, Mihaela Stefanescu, Cindy Li, Stephanie Austin, Priya S Kishnani
This study examines the long-term cognitive and academic outcomes of 11 individuals with infantile onset Pompe disease (IOPD) (median age=11years, 1month, range=5years, 6months through 17years of age) treated with enzyme replacement therapy from an early age. All participants (7 males, 4 females) were administered individual intelligence tests (Wechsler or Leiter scales or both), a measure of their academic skill levels (Woodcock-Johnson Tests of Achievement), and a screening measure of visual-motor integration ability (Beery-Buktenica)...
May 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28492927/prevalence-of-auditory-problems-in-children-with-feeding-and-swallowing-disorders
#9
Vishakha Waman Rawool
Purpose: Although an interdisciplinary approach is recommended for assessment and management of feeding or swallowing difficulties, audiologists are not always included in the interdisciplinary team. The purpose of this study is to report the prevalence of middle ear and hearing problems in children with feeding and swallowing disorders and to compare this prevalence with that in typical children. Method: A total of 103 children were included in the study: 44 children with feeding and swallowing disorders and 59 children without any such disorders...
May 24, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28492865/the-relationship-between-iron-deficiency-anemia-and-sensorineural-hearing-loss-in-the-pediatric-and-adolescent-population
#10
Kathleen M Schieffer, James R Connor, James A Pawelczyk, Deepa L Sekhar
Purpose: A correlation between iron deficiency anemia (IDA) and sudden sensorineural hearing loss (SNHL) was described in adults. In this study, we examined if there is a relationship between IDA and hearing loss in the pediatric population. Method: This was a retrospective cohort study of data collected from the Informatics for Integrating Biology and the Bedside database from 2011 to 2016. Children and adolescents 4-21 years old seen at Penn State Milton S. Hershey Medical Center, Hershey, PA, were examined for hearing loss and IDA status...
May 10, 2017: American Journal of Audiology
https://www.readbyqxmd.com/read/28492720/association-between-language-and-hearing-disorders-risk-identification
#11
Alessandra Giannella Samelli, Silmara Rondon-Melo, Camila Maia Rabelo, Daniela Regina Molini-Avejonas
OBJECTIVE: To identify children at risk for hearing and/or language disorders and to investigate the association between these risks by conducting pre-validated hearing and language screenings. METHODS: The study was conducted during a polio vaccination campaign in August of 2013 in basic health units in western São Paulo. Parents of children between 2 and 5 years of age were asked to complete two screening tools: a hearing questionnaire (regarding hearing development) and a language production and comprehension scale (including the major language development milestones)...
April 2017: Clinics
https://www.readbyqxmd.com/read/28489599/association-between-the-p-v37i-variant-of-gjb2-and-hearing-loss-a-pedigree-and-meta-analysis
#12
REVIEW
Na Shen, Jing Peng, Xiong Wang, Yaowu Zhu, Weiyong Liu, Aiguo Liu, Yanjun Lu
Pathogenic variants in the gap junction protein beta-2 (GJB2) gene are the most common cause of hearing loss. Of these, the p.V37I variant of GJB2 has a high allele frequency (up to 10%) in East Asians. Characterization of the phenotypic spectrum associated with p.V37I, as well as the role of this variant in the onset of hearing loss could have a remarkable effect on future diagnostic strategies. Here, we performed a pedigree analysis of unrelated families exhibiting various hearing phenotypes, and then conducted a meta-analysis to comprehensively assess the association between the p...
April 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28487795/sequence-and-timing-of-intracranial-changes-in-cytomegalovirus-in-pregnancy-a-case-report-and-literature-review
#13
Cynthia O'Sullivan, Shankari Arulkumaran, Lorin Lakasing, Eric Jauniaux, Karl Murphy
Cytomegalovirus (CMV) is the most common cause of intrauterine infection, occurring in up to 2% of all live births. Most women are asymptomatic or experience nonspecific symptoms, which can lead to long-term sequelae in newborns including neurological impairment, hearing loss, and mental retardation. A 41-year-old woman (G6 P2), with a medical history of epilepsy, presented for her routine anomaly scan at 20 + 4/40. A single finding of echogenic bowel was noted on ultrasound which prompted a full investigation...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28485462/hearing-loss-amongst-the-elderly-in-a-southeast-asian-population-a-community-based-study
#14
Jek Chong Lee, Adrian Noel Danker, Yu Han Wong, Ming Yann Lim
INTRODUCTION: The aim of this study was to determine the prevalence of hearing loss amongst the elderly population attending community services in Singapore. The usefulness of the Hearing Handicap Inventory for the Elderly Screening version (HHIE-S) in detecting hearing loss was also investigated. MATERIALS AND METHODS: Pure-tone audiometry was carried out on a randomly recruited cohort of people (n = 338) over 60 years old and who were attending rehabilitation and social day care services for senior citizens at St Luke's Elder Care centres located throughout the city...
April 2017: Annals of the Academy of Medicine, Singapore
https://www.readbyqxmd.com/read/28485038/a-cross-sectional-evaluation-of-the-validity-of-a-smartphone-otoscopy-device-in-screening-for-ear-disease-in-nepal
#15
R Mandavia, T Lapa, M Smith, M F Bhutta
OBJECTIVES: Hearing loss is a neglected international health problem. The greatest burden of ear disease is in low-income countries where there is also a lack of resources. In this context, screening for otological disease may be worthwhile. Cupris© has developed an otoscopy device that offers the possibility of low-cost mass screening in remote communities. We evaluated the validity of this device in diagnosing ear disease, and in determining whether referral to an ENT centre is warranted...
May 9, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28483258/universal-newborn-hearing-screening-in-southwestern-iran
#16
Nader Saki, Arash Bayat, Reza Hoseinabadi, Soheila Nikakhlagh, Majid Karimi, Rezvan Dashti
OBJECTIVES: The implementation of Neonatal Hearing Screening (NHS) program is still at the preliminary stage particularly in developing countries despite the burden of permanent congenital and early-onset hearing impairment. The purpose of this study was to report results for universal newborn NHS in a cohort of children born in the southwestern region of Iran, as part of a national screening program set up by the Iranian National Health System. METHODS: During this cross-sectional study, which took place between March 2013 and April 2016, healthy newborns were screened using transient evoked otoacoustic emissions (TEOAEs) and automated auditory brainstem responses (AABRs) methods at several points in time as early as possible after birth...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28483249/effect-of-gentamicin-and-levels-of-ambient-sound-on-hearing-screening-outcomes-in-the-neonatal-intensive-care-unit-a-pilot-study
#17
Angela C Garinis, Selena Liao, Campbell P Cross, Johnathan Galati, Jessica L Middaugh, Jess C Mace, Anna-Marie Wood, Lindsey McEvoy, Lauren Moneta, Troy Lubianski, Noe Coopersmith, Nicholas Vigo, Christopher Hart, Artur Riddle, Olivia Ettinger, Casey Nold, Heather Durham, Carol MacArthur, Cynthia McEvoy, Peter S Steyger
OBJECTIVE: Hearing loss rates in infants admitted to neonatal intensive care units (NICU) run at 2-15%, compared to 0.3% in full-term births. The etiology of this difference remains poorly understood. We examined whether the level of ambient sound and/or cumulative gentamicin (an aminoglycoside) exposure affect NICU hearing screening results, as either exposure can cause acquired, permanent hearing loss. We hypothesized that higher levels of ambient sound in the NICU, and/or gentamicin dosing, increase the risk of referral on the distortion product otoacoustic emission (DPOAE) assessments and/or automated auditory brainstem response (AABR) screens...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28483220/an-update-of-common-autosomal-recessive-non-syndromic-hearing-loss-genes-in-iranian-population
#18
REVIEW
Tohid Ghasemnejad, Mahmoud Shekari Khaniani, Fatemeh Zarei, Mina Farbodnia, Sima Mansoori Derakhshan
Autosomal-recessive genes are responsible for about 80% of the hereditary non-syndromic hearing loss (NSHL) cases. In Iran, due to consanguineous marriages, NSHL is the second most frequent disability after intellectual disability, occurring one in 16 individuals. Enormous heterogeneity in the genetic pathology of hearing loss causes a major challenge in identification of responsible genes. In Iran, GJB2 is responsible for the most cases of pre-lingual and non-syndromic hearing loss (with frequency of 16.7%) which followed by other genes with lower frequency...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28482715/hearing-loss-among-high-risk-newborns-admitted-to-a-tertiary-neonatal-intensive-care-unit
#19
May Ahmed Khairy, Walaa Alsharany Abuelhamed, Radwa Sayed Ahmed, Hedayet El Sayed El Fouly, Ismail Mohamed Elhawary
PURPOSE: The aim of this work is to identify the most significant risk factors for hearing impairment in high risk neonates hospitalized at our Neonatal Intensive Care Unit (NICU) and to assess the sensitivity of hearing screening tests. METHODS: This study involved 260 neonates admitted to a tertiary NICU; they were classified into 2 groups; 150 preterm and 110 full terms with risk factors for hearing loss. The hearing screening tests performed were transient evoked otoacoustic emissions (TEOAES) and the automated auditory brain stem response (AABR)...
May 8, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28475714/high-risk-factors-associated-with-early-childhood-hearing-loss-a-3-year-review
#20
Kelsey A Dumanch, Lenore Holte, Tammy O'Hollearn, Elizabeth Walker, Jacob Clark, Jacob Oleson
Purpose: In this study, we examined the association between risk factors for hearing loss and early childhood hearing status (normal hearing, congenital hearing loss, or delayed-onset hearing loss). Follow-up rates of audiologic care following passed or referred birth screens for children with risk factors were also examined. Method: A retrospective data review was completed on 115,039 children born from 2010 to 2012. Data analyses included prevalence rates, odds ratios, and Fisher exact tests of statistical significance...
May 6, 2017: American Journal of Audiology
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