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https://www.readbyqxmd.com/read/28719707/community-triage-of-otology-patients-using-a-store-and-forward-telemedicine-device-a-feasibility-study
#1
Nishi Gupta, Neeraj Chawla, Digant Gupta, Nidhi Dhawan, Vidya R Janaki
Chronic otitis media is a major contributor to acquired hearing loss in developing countries. Developing countries such as India, with huge populations and poor health infrastructures, have always felt the shortage of trained specialists who can provide quality care to meet the enormous demand for treatment of this disease. This pilot study assessed the feasibility of empowering trained health workers equipped with ENTraview, a store-and-forward telemedicine device that integrates a camera- enabled smart phone with an otoscope...
July 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28717668/different-renal-phenotypes-in-related-adult-males-with-fabry-disease-with-the-same-classic-genotype
#2
Renzo Mignani, Mariarita Moschella, Giovanna Cenacchi, Ilaria Donati, Marta Flachi, Daniela Grimaldi, Davide Cerretani, Paola De Giovanni, Marcello Montevecchi, Angelo Rigotti, Alessandro Ravasio
BACKGROUND: Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation. METHODS: A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia. RESULTS: The DBS revealed absent leukocyte α-Gal A enzyme activity while DNA analysis identified the I354K mutation. Serum creatinine and e-GFR were in normal range and also albuminuria and proteinuria were absent...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28717060/clinical-data-analysis-of-genotypes-and-phenotypes-of-deafness-gene-mutations-in-newborns-a-retrospective-study
#3
Yating Du, Lihui Huang, Xueyao Wang, Qingjia Cui, Xiaohua Cheng, Liping Zhao, Tingting Ni
We retrospectively analyzed newborns with deafness gene mutations and summarized the relationship between genotype and phenotype to provide a basis for genetic counseling. We studied 582 subjects positive for deafness gene mutations that were treated in the otology outpatient department of Beijing Tongren Hospital, Capital Medical University, between April 2012 and April 2016. The subjects were divided into 3 categories: a diagnosed group (group A), which was further subdivided into subgroups A1 (homozygous and compound heterozygous GJB2 mutations) and A2 (homozygous and compound heterozygous SLC26A4 mutations); a drug-induced deafness group (group B, mitochondrial (Mt) gene mutations); and a mutation carrier group (group C), which was further subdivided into the subgroups C1 (GJB2 heterozygous mutations), C2 (SLC26A4 heterozygous mutations), C3 (GJB3 heterozygous mutations), and C4 (double gene mutations)...
July 17, 2017: Bioscience Trends
https://www.readbyqxmd.com/read/28713835/rapid-detection-of-the-mt3243a%C3%A2-%C3%A2-g-mutation-using-urine-sediment-in-elderly-chinese-type-2-diabetic-patients
#4
Yinan Zhang, Xiujuan Du, Xinqian Geng, Chen Chu, Huijuan Lu, Yixie Shen, Ruihua Chen, Pingyan Fang, Yanmei Feng, Xiaojie Zhang, Yan Chen, Yanping Zhou, Congrong Wang, Weiping Jia
OBJECTIVE: In this study, we aimed to identify mt3243A > G mutation carriers in a group of Chinese elderly type 2 diabetic patients by a rapid and noninvasive diagnostic system. METHODS: DNA was extracted from blood, saliva, and urine sediment samples. The mutation screening and quantitation of heteroplasmy were performed by high-resolution melting (HRM) curve and pyrosequencing, respectively. Patients with mt3243A > G mutation underwent a detailed audiometric, ophthalmologic, neurological, and cardiac examination...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28705044/the-genetics-of-hair-cell-function-in-zebrafish
#5
Teresa Nicolson
Our ears are remarkable sensory organs, providing the important senses of balance and hearing. The complex structure of the inner ear, or 'labyrinth', along with the assorted neuroepithelia, have evolved to detect head movements and sounds with impressive sensitivity. The rub is that the inner ear is highly vulnerable to genetic lesions and environmental insults. According to National Institute of Health estimates, hearing loss is one of the most commonly inherited or acquired sensorineural diseases. To understand the causes of deafness and balance disorders, it is imperative to understand the underlying biology of the inner ear, especially the inner workings of the sensory receptors...
July 13, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28701413/a-directly-comparative-two-gate-case-control-diagnostic-accuracy-study-of-the-pure-tone-screen-and-hearcheck-screener-tests-for-identifying-hearing-impairment-in-school-children
#6
Obioha C Ukoumunne, Chris Hyde, Mara Ozolins, Zhivko Zhelev, Sam Errington, Rod S Taylor, Claire Benton, Joanne Moody, Laura Cocking, Julian Watson, Heather Fortnum
OBJECTIVES: This study directly compared the accuracy of two audiometry-based tests for screening school children for hearing impairment: the currently used test, pure tone screen and a device newly applied to children, HearCheck Screener. DESIGN: Two-gate case-control diagnostic test accuracy study. SETTING AND PARTICIPANTS: Hearing impaired children ('intended cases') aged 4-6 years were recruited between February 2013 and August 2014 from collaborating audiology services...
July 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28697607/wideband-acoustic-immittance-for-assessing-middle-ear-functioning-for-preterm-neonates-in-the-neonatal-intensive-care-unit
#7
Nandel Gouws, De Wet Swanepoel, Leigh Biagio De Jager
BACKGROUND: The primary aim of newborn hearing screening is to detect permanent hearing loss. Because otoacoustic emissions (OAEs) and automated auditory brainstem response (AABR) are sensitive to hearing loss, they are often used as screening tools. On the other hand, false-positive results are most often because of transient outer- and middle ear conditions. Wideband acoustic immittance (WAI), which includes physical measures known as reflectance and absorbance, has shown potential for accurate assessment of middle ear function in young infants...
June 28, 2017: South African Journal of Communication Disorders. die Suid-Afrikaanse Tydskrif Vir Kommunikasieafwykings
https://www.readbyqxmd.com/read/28697513/-prevalence-risk-factors-and-diagnostics-of-hearing-impairment-in-preterm-infants
#8
C Franck, W Vorwerk, A Köhn, A Rißmann, U Vorwerk
Introduction: The preterm birth is clearly associated with increased risk of developing congenital hearing impairment. Therefore, special attention must be paid to the postnatal control of auditory function in all preterm infants. The present work investigates if the latest scientific findings regarding prevalence, clinical diagnostics, therapy and risk factors of hearing impairment in premature infants are regularly implemented in daily practice. Methods: At the department of phoniatrics and pediatric audiology of the University Hospital of Magdeburg, the treatment data of 126 preterm children born between 2006 and 2011 were evaluated retrospectively...
June 2017: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/28695541/headphone-screening-to-facilitate-web-based-auditory-experiments
#9
Kevin J P Woods, Max H Siegel, James Traer, Josh H McDermott
Psychophysical experiments conducted remotely over the internet permit data collection from large numbers of participants but sacrifice control over sound presentation and therefore are not widely employed in hearing research. To help standardize online sound presentation, we introduce a brief psychophysical test for determining whether online experiment participants are wearing headphones. Listeners judge which of three pure tones is quietest, with one of the tones presented 180° out of phase across the stereo channels...
July 10, 2017: Attention, Perception & Psychophysics
https://www.readbyqxmd.com/read/28692640/congenital-toxoplasmosis-in-austria-prenatal-screening-for-prevention-is-cost-saving
#10
Andrea-Romana Prusa, David C Kasper, Larry Sawers, Evelyn Walter, Michael Hayde, Eileen Stillwaggon
BACKGROUND: Primary infection of Toxoplasma gondii during pregnancy can be transmitted to the unborn child and may have serious consequences, including retinochoroiditis, hydrocephaly, cerebral calcifications, encephalitis, splenomegaly, hearing loss, blindness, and death. Austria, a country with moderate seroprevalence, instituted mandatory prenatal screening for toxoplasma infection to minimize the effects of congenital transmission. This work compares the societal costs of congenital toxoplasmosis under the Austrian national prenatal screening program with the societal costs that would have occurred in a No-Screening scenario...
July 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28691649/screening-tools-for-the-identification-of-dementia-for-adults-with-age-related-acquired-hearing-or-vision-impairment-a-scoping-review
#11
Annie Pye, Anna Pavlina Charalambous, Iracema Leroi, Chrysoulla Thodi, Piers Dawes
BACKGROUND: Cognitive screening tests frequently rely on items being correctly heard or seen. We aimed to identify, describe, and evaluate the adaptation, validity, and availability of cognitive screening and assessment tools for dementia which have been developed or adapted for adults with acquired hearing and/or vision impairment. METHOD: Electronic databases were searched using subject terms "hearing disorders" OR "vision disorders" AND "cognitive assessment," supplemented by exploring reference lists of included papers and via consultation with health professionals to identify additional literature...
July 10, 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/28689189/early-hearing-detection-and-vocabulary-of-children-with-hearing-loss
#12
Christine Yoshinaga-Itano, Allison L Sedey, Mallene Wiggin, Winnie Chung
BACKGROUND AND OBJECTIVES: To date, no studies have examined vocabulary outcomes of children meeting all 3 components of the Early Hearing Detection and Intervention (EHDI) guidelines (hearing screening by 1 month, diagnosis of hearing loss by 3 months, and intervention by 6 months of age). The primary purpose of the current study was to examine the impact of the current EHDI 1-3-6 policy on vocabulary outcomes across a wide geographic area. A secondary goal was to confirm the impact of other demographic variables previously reported to be related to language outcomes...
July 8, 2017: Pediatrics
https://www.readbyqxmd.com/read/28687817/etiologic-and-audiologic-characteristics-of-patients-with-pediatric-onset-unilateral-and-asymmetric-sensorineural-hearing-loss
#13
Pei-Hsuan Lin, Chuan-Jen Hsu, Yi-Hsin Lin, Yin-Hung Lin, Hui-Yu Lee, Chen-Chi Wu, Tien-Chen Liu
Importance: Pediatric-onset unilateral and asymmetric sensorineural hearing loss (SNHL) is a common condition, but in most patients, the cause remains unclear; thus, determination of the hearing outlook is difficult. Objective: To analyze the etiologic and audiologic characteristics of pediatric-onset unilateral and asymmetric SNHL. Design, Setting, and Participants: In this retrospective cohort study performed from January 1, 2008, through December 31, 2016, patients at a tertiary referral center who were diagnosed with pediatric-onset unilateral or asymmetric SNHL were divided into 3 groups according to their hearing levels: unilateral hearing loss with scaled-out levels (UHL-SO), unilateral hearing loss with residual hearing (UHL-RH), and asymmetric hearing loss (AHL)...
July 6, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28685639/barriers-to-timely-diagnosis-and-treatment-for-children-with-hearing-impairment-in-a-southern-indian-city-a-qualitative-study-of-parents-and-clinic-staff
#14
Sri Vamshi Merugumala, Vijay Pothula, Max Cooper
OBJECTIVE: In low income countries, deaf children are identified late due to the absence of a universal screening. Hearing impairment is a common yet neglected disability in India that leads to loss of speech and language. This qualitative study explored barriers to accessing appropriate hearing services in one city in southern India. DESIGN: To identify the barriers in timely management of deafness, 25 semi-structured interviews were conducted. Data were examined using Applied Thematic Analysis...
July 7, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28682820/current-assessment-of-newborn-hearing-screening-protocols
#15
Rosario R Ricalde, Charlotte M Chiong, Patrick John P Labra
PURPOSE OF REVIEW: The objective of this article is to assess current newborn hearing screening protocols. We will focus on technologies or modalities used, protocol steps, training of screeners, timing of first screen, and loss to follow-up. A summary of program reports focusing on protocols from Greece, China, South Africa, France, Spain, South Korea, Denmark, Italy, Turkey, Taiwan, South Korea, Poland and Iran as they are recently reported will also be presented. RECENT FINDINGS: Community-based hearing screening programs in South Africa and efforts in the Asian region are being reported...
July 5, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28682135/using-zebrafish-as-a-model-to-study-the-role-of-epigenetics-in-hearing-loss
#16
Yingzi He, Beier Bao, Huawei Li
The rapid progress of bioinformatics and high-throughput screening techniques in recent years has led to the identification of many candidate genes and small-molecule drugs that have the potential to make significant contributions to our understanding of the developmental and pathological processes of hearing, but it remains unclear how these genes and regulatory factors are coordinated. Increasing evidence suggests that epigenetic mechanisms are essential for establishing gene expression profiles and likely play an important role in the development of inner ear and in the pathology of hearing-associated diseases...
July 6, 2017: Expert Opinion on Drug Discovery
https://www.readbyqxmd.com/read/28678066/hearing-health-access-in-developing-countries
#17
Michael S Harris, Edward E Dodson
PURPOSE OF REVIEW: The developing world carries a disproportionate burden of hearing loss. Individuals with hearing loss in austere settings worldwide are also potentially impacted by their impairment to a greater extent owing to underdeveloped or nonexistent hearing health infrastructure. The purpose of this review is to examine the state of the literature on hearing health access in developing countries and identify areas for improvement. RECENT FINDINGS: Over the last 10 years progress has been made in some areas, whereas other aspects of hearing health in developing countries have changed very little...
July 3, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28671437/expanded-newborn-screening-information-and-resources-for-the-family-physician
#18
David Glenn Weismiller
Each year, 4 to 5 million newborns receive state-mandated screening. Although the Advisory Committee on Heritable Disorders in Newborns and Children has identified 34 core conditions that should be incorporated into screening programs, each state manages, funds, and maintains its own program. State programs encompass screening, as well as the diagnosis and coordination of care for newborns with positive findings. Testing for core disorders is fairly standardized, but more extensive screening varies widely by state, and the rigorous evaluation of new screening panels is ongoing...
June 1, 2017: American Family Physician
https://www.readbyqxmd.com/read/28670275/results-of-an-interdisciplinary-day-care-approach-for-chronic-tinnitus-treatment-a-prospective-study-introducing-the-jena-interdisciplinary-treatment-for-tinnitus
#19
Daniela Ivansic, Christian Dobel, Gerd F Volk, Daniel Reinhardt, Boris Müller, Ulrich C Smolenski, Orlando Guntinas-Lichius
Objective: Considering the heterogeneity of the symptoms shown by patients suffering from chronic tinnitus, there are surprisingly few interdisciplinary treatments available, and mostly available only for inpatients. In order to provide an interdisciplinary treatment, we developed a day care concept in which each patient was treated by an ENT doctor, a cognitive behavioral therapist, a specialist for medical rehabilitation and an audiologist (Jena Interdisciplinary Treatment for Tinnitus, JITT). The aim of this study was to observe the changes of tinnitus related distress due to interdisciplinary day care treatment and to determine which factors mediate this change...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28665808/disparities-in-access-to-pediatric-hearing-health-care
#20
Matthew L Bush, Michael R Kaufman, Beth N McNulty
PURPOSE OF REVIEW: There are significant disparities in care facing children with hearing loss. The objective of this review is to assess the current disparities in pediatric hearing healthcare delivery, describe the barriers of efficient and effective pediatric hearing health care, and explore the innovations to improve pediatric hearing healthcare delivery. RECENT FINDINGS: Children with hearing loss from certain geographic regions or ethnic background are significantly delayed in diagnosis and treatment...
June 29, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
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