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Hearing screening

Ashraf Dallol, Kamal Daghistani, Aisha Elaimi, Wissam A Al-Wazani, Afaf Bamanie, Malek Safiah, Samira Sagaty, Layla Taha, Rawabi Zahed, Osama Bajouh, Adeel Gulzar Chaudhary, Mamdooh Abdullah Gari, Rola Turki, Mohammed Hussein Al-Qahtani, Adel Mohammed Abuzenadah
BACKGROUND: Hearing Impairment (HI) can have genetic or environmental causes and in some cases, an interplay of both. Genetic causes are difficult to determine as mutations in more than 90 genes have been shown recently to be responsible for HI. Providing a genetic diagnostic test for HI is therefore a challenge especially for ethnic groups where GJB2 mutations are shown to be rare. RESULTS: Here we show the design and implementation of an amplicon-based targeted sequencing panel that allows the simultaneous sequencing of 87 HI genes...
October 10, 2016: BMC Medical Genetics
Christine Louw, De Wet Swanepoel, Robert H Eikelboom, Hermanus C Myburgh
OBJECTIVE: To evaluate the performance of smartphone-based hearing screening with the hearScreen™ application in terms of sensitivity, specificity, referral rates, and time efficiency at two primary health care clinics. DESIGN: Nonprobability purposive sampling was used at both clinics. A total of 1236 participants (mean age: 37.8 ± SD 17.9 and range 3 to 97 years; 71.3% female) were included in the final analysis. Participants were screened using the hearScreen™ application following a two-step screening protocol and diagnostic pure-tone audiometry to confirm hearing status...
October 19, 2016: Ear and Hearing
Hasan Emre Koçak, Ayşe Şermin Filiz Acıpayam, Harun Acıpayam, Bilgen Çakıl Erdoğan, Wesam M E Alakhras, Mehmet Nurettin Kıral, Mehmet Keskin, Fatma Tülin Kayhan
OBJECTIVE: The aim of our study is to investigate whether systemic microvascular function affects the development and prognosis of sudden idiopathic hearing loss (SHL). TYPE OF STUDY: A prospective case-control study. MATERIALS-METHOD: 50 patients diagnosed with SHL at our hospital between September 2015 and May 2016 were included as the SHL group, and 50 healthy volunteers who came to the hospital for medical screening were included in the control group...
October 19, 2016: Clinical Otolaryngology
Sigrid Bosteels, Michel Vandenbroeck, Geert Van Hove
New-born screening programs for congenital disorders and chronic disease are expanding worldwide and children "at risk" are identified by nationwide tracking systems at the earliest possible stage. These practices are never neutral and raise important social and ethical questions. An emergent concern is that a reflexive professionalism should interrogate the ever earlier interference in children's lives. The Flemish community of Belgium was among the first to generalize the screening for hearing loss in young children and is an interesting case to study the public justification of early interventions for families with deaf children...
October 19, 2016: Journal of Bioethical Inquiry
Lianhua Sun, Xiaohua Li, Jun Shi, Xiuhong Pang, Yechen Hu, Xiaowen Wang, Hao Wu, Tao Yang
Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. Among the 29 WS2 probands, 13 (45%) and 10 (34%) were identified with SOX10 and MITF mutations, respectively...
October 19, 2016: Scientific Reports
John Patton, Carmen Brewer, Wade Chien, Jennifer J Johnston, Andrew J Griffith, Leslie G Biesecker
Variants in the unconventional myosin gene, MYO1A, have been reported to cause non-syndromic sensorineural hearing loss with a pattern of autosomal dominant inheritance. Others have challenged this association. We used a genotypic ascertainment study design to test the association of MYO1A variants with hearing loss. We evaluated MYO1A variants from a cohort of 951 individuals with exome sequencing who were not ascertained for hearing loss. Five individuals had one of two variants claimed to be associated with sensorineural hearing loss in a prior study and 33 individuals had one of 13 predicted deleterious variants...
October 19, 2016: European Journal of Human Genetics: EJHG
Israel Pena, Erin Y Chew, Barcleigh P Landau, Joseph T Breen, Jose P Zevallos, Jeffrey T Vrabec
OBJECTIVE: To investigate the prevalence of vestibular schwannoma (VS) and asymmetric sensorineural hearing loss in the Veterans Administration hospital population and analyze a more efficient method of diagnosing VS in a population with significant noise exposure. STUDY DESIGN: Retrospective review of South Central (VISN 16) Veterans Administration hospitals. METHODS: Record query for ICD-9 codes for asymmetric sensorineural hearing loss or VS between 1999 and 2012...
October 14, 2016: Otology & Neurotology
Idalina Luz, Angela Ribas, Lorena Kozlowski, Mariluci Willig, Ana Paula Berberian
Introduction Law 12.303/10 requires hearing screening in newborns before hospital discharge to detect possible hearing problems within the first three months after birth. If the newborn fails the test or presents signs of risk for hearing loss, it must undergo a retest and monitoring during the first year of life. In practice, this often does not happen. Objective To identify, in a group of mothers of children with risk factors for hearing loss, the determining reasons for non-compliance with the auditory retest...
October 2016: International Archives of Otorhinolaryngology
Stephanie Kletke, Vaishnavi Batmanabane, Tianyang Dai, Ajoy Vincent, Shuning Li, Karen A Gordon, Blake C Papsin, Sharon L Cushing, Elise Héon
The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having Usher syndrome. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was done to determine the ocular phenotype...
October 15, 2016: Clinical Genetics
Islay Mactaggart, Hannah Kuper, G V S Murthy, Joseph Oye, Sarah Polack
PURPOSE: To investigate the relationship between two distinct measures of disability: self-reported functional limitations and objectively-screened clinical impairments. METHODS: We undertook an all age population-based survey of disability in two areas: North-West Cameroon (August/October 2013) and Telangana State, India (Feb/April 2014). Participants were selected for inclusion via two-stage cluster randomised sampling (probability proportionate to size cluster selection and compact segment sampling within clusters)...
2016: PloS One
Xingang Fang, Xi Li, Qi Zhang, Jin Wan, Mei Sun, Fengshui Chang, Jun Lü, Gang Chen
OBJECTIVE: By comparing the Universal Neonatal Hearing Screening (UNHS) program as implemented in Shanghai and other regions in China and countries around the world, this study makes an assessment of the Shanghai model and summarizes the experiences implementing the UNHS program, so as to provide a valuable reference for other countries or regions to carry out UNHS more effectively. Since Shanghai is one of the most developed regions in China, we also examined the relationship between economic development and the UNHS starting year and coverage rate...
November 2016: International Journal of Pediatric Otorhinolaryngology
Rohit Ravi, Dhanshree R Gunjawate, Krishna Yerraguntla, Leslie E Lewis, Carlie Driscoll, Bellur Rajashekhar
INTRODUCTION: The quality and efficiency of newborn hearing screening programs (NHS) rely heavily on appropriate follow-up. The Joint Committee on Infant Hearing recommends a follow-up rate of more than 95% of infants who fail the initial hearing screening. However, a 70% benchmark is considered to be more feasible. This high loss to follow-up (LTF) rate acts as a threat to the overall success of NHS programs. The objective of the study was to identify and examine the reported rates of LTF, attributed reasons for LTF and strategies undertaken to reduce LTF...
November 2016: International Journal of Pediatric Otorhinolaryngology
Bryan J Liming, John Carter, Alan Cheng, Daniel Choo, John Curotta, Daniela Carvalho, John A Germiller, Stephen Hone, Margaret A Kenna, Natalie Loundon, Diego Preciado, Anne Schilder, Brian J Reilly, Stephane Roman, Julie Strychowsky, Jean-Michel Triglia, Nancy Young, Richard J H Smith
OBJECTIVE: To provide recommendations for the workup of hearing loss in the pediatric patient. METHODS: Expert opinion by the members of the International Pediatric Otolaryngology Group. RESULTS: Consensus recommendations include initial screening and diagnosis as well as the workup of sensorineural, conductive and mixed hearing loss in children. The consensus statement discusses the role of genetic testing and imaging and provides algorithms to guide the workup of children with hearing loss...
November 2016: International Journal of Pediatric Otorhinolaryngology
Soren Gantt, Francois Dionne, Fred K Kozak, Oran Goshen, David M Goldfarb, Albert H Park, Suresh B Boppana, Karen Fowler
Importance: Congenital cytomegalovirus (cCMV) infection is a major cause of childhood deafness. Most cCMV infections are not diagnosed without newborn screening, resulting in missed opportunities for directed care. Objective: To estimate the cost-effectiveness of universal and targeted newborn cCMV screening programs compared with no cCMV screening. Design, Setting, and Participants: Models were constructed using rates and outcomes from prospective cohort studies of newborn cCMV screening in US postpartum care and early hearing programs...
October 10, 2016: JAMA Pediatrics
Yoshinobu Hirose, Kazuma Sugahara, Eiju Kanagawa, Yousuke Takemoto, Makoto Hashimoto, Hiroshi Yamashita
Eighteen supplement drugs were screened using hair cells to determine a protective effect against the adverse effects of neomycin by using the zebrafish lateral line. The zebrafish were administered the supplement drugs 1 h before neomycin exposure. One hour later, animals were fixed in paraformaldehyde. Dose-response curves were generated to evaluate the protective effect on hair cells. The screen identified 3 supplements (quercetin, catechin and tannic acid). Three minutes after exposure to neomycin, increased antioxidant activity was found in the lateral line hair cells, as determined by the analysis of oxidative stress...
October 4, 2016: Hearing Research
V Soler, S Sourdet, L Balardy, G Abellan van Kan, D Brechemier, M E Rougé-Bugat, N Tavassoli, M Cassagne, F Malecaze, F Nourhashémi, B Vellas
OBJECTIVES: To evaluate visual performance and factors associated with abnormal vision in patients screened for frailty at the Geriatric Frailty Clinic (GFC) for Assessment of Frailty and Prevention of Disability at Toulouse University Hospital. DESIGN: Retrospective, observational cross-sectional, single-centre study. SETTING: Institutional practice. PARTICIPANTS: Patients were screened for frailty during a single-day hospital stay between October 2011 and October 2014 (n = 1648)...
2016: Journal of Nutrition, Health & Aging
Christine Yoshinaga-Itano, Mallene Wiggin
Hearing is essential for the development of speech, spoken language, and listening skills. Children previously went undiagnosed with hearing loss until they were 2.5 or 3 years of age. The auditory deprivation during this critical period of development significantly impacted long-term listening and spoken language outcomes. Due to the advent of universal newborn hearing screening, the average age of diagnosis has dropped to the first few months of life, which sets the stage for outcomes that include children with speech, spoken language, and auditory skill testing in the normal range...
November 2016: Seminars in Speech and Language
Sudhir Adhikari, Kalipatnam Seshagiri Rao
BACKGROUND: Perinatal asphyxia with hypoxic ischemic encephalopathy (HIE) causes significant mortality and morbidity in developing countries. There is limited information about long term neurodevelopmental outcome of infants with neonatal encephalopathy. METHODS: Term infants with the diagnosis of perinatal asphyxia were followed up in neurodevelopmental clinics of Manipal Teaching hospital, Nepal. Study design was prospective mixed longitudinal study. Prematurity, major congenital malformations, other intracranial pathology, birth weight <2500g and chromosomal abnormalities were excluded...
September 30, 2016: Brain & Development
Rohit Ravi, Dhanshree R Gunjawate, Krishna Yerraguntla, B Rajashekhar, Leslie E Lewis
OBJECTIVE: The parents/caregivers of a newborn play a pivotal role in the process of hearing screening and intervention. The decisions taken by them depend on their knowledge and attitude. The purpose of this study was to review the literature systematically on knowledge and attitude of parents/caregivers towards infant hearing loss and newborn hearing screening. DESIGN: A systematic search was conducted using electronic databases for the periods from 1990 to March 2016...
December 2016: International Journal of Audiology
Nader Salama
BACKGROUND: Kallmann syndrome (Kal S) is an isolated form of hypogonadotrophic hypogonadism in combination with a defect in smell sensation. Depending on the genetic form of the disease, a number of non-reproductive, non-olfactory abnormalities may also be existent. In the present report, we describe a male with Kal S associated with hearing loss, and the successful treatment of his sexual and reproductive defects. CASE: A 23-year-old Caucasian man presented with a lifelong lack of erection and ejaculation...
August 2016: International Journal of Reproductive Biomedicine (Yazd, Iran)
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