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https://www.readbyqxmd.com/read/28330066/endolymphatic-hydrops-imaging-why-oving-from-semi-quantitative-to-anatomical-based-evaluation
#1
Michael Eliezer, Irène Tropres, Alexandre Krainik, Arnaud Attye
INTRODUCTION: Recently, the semi-quantitative ratio grading for endolymphatic hydrops (EH) was found as none specific of MD because all healthy subjects referred with at least one hydrops location with this grading method and 3D-FLAIR sequence. The objectives of this study were to assess the EH prevalence in MD using both the semi-quantitative ratio method of grading and the Saccule to Utricle Ration Inversion (SURI) technique with two 3D-FLAIR sequences, closely similar except for the inversion time of the sequence...
March 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28328777/youth-hearing-impairment-early-detection-is-key
#2
Janice Sampson, Heather Thompson
No abstract text is available yet for this article.
April 2017: Nursing
https://www.readbyqxmd.com/read/28328611/a-rare-complication-of-cochlear-implantation-after-magnetic-resonance-imaging-reversion-of-the-magnet
#3
Erkan Öztürk, Can Doruk, Kadir Serkan Orhan, Mehmet Çelik, Beldan Polat, Yahya Güldiken
Cochlear implants are mechanical devices used for patients with severe sensory-neural hearing loss, which has an inner magnet. It is proven that 1.5 Tesla magnetic resonance imaging (MRI) scanners are safe to use in patients with cochlear implant. In our patient, the authors aim to introduce a rare complication caused after a 1.5 Tesla MRI scanning and the management of this situation; the reversion of the magnet of the implant without displacement and significance of surgery in management.
March 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28328495/the-modern-cochlear-implant-a-triumph-of-biomedical-engineering-and-the-first-substantial-restoration-of-human-sense-using-a-medical-intervention
#4
Blake S Wilson
Even as recently as the mid-1980s, many experts in otology and auditory science thought that restoration of useful hearing with crude and pervasive electrical stimulation of the cochlea was a fool's dream. The esteemed Prof. Rainer Klinke from Frankfurt (Figure 1) was among the chorus of critics, asserting in 1978 that "from a physiological point of view, cochlear implants will not work." Many others made similar categorical statements.
March 2017: IEEE Pulse
https://www.readbyqxmd.com/read/28328494/hearing-aid-technology-for-the-21st-century-a-proposal-for-universal-wireless-connectivity-and-improved-sound-quality
#5
Richard Einhorn
Approximately 360 million people in the world live with a debilitating hearing loss. The most common conditions-age-related and noise-induced sensorineural hearing loss-are both progressive and, for the foreseeable future, neither curable nor reversible.
March 2017: IEEE Pulse
https://www.readbyqxmd.com/read/28328389/tablet-based-hearing-screening-test
#6
Alessandra G Samelli, Camila M Rabelo, Seisse G G Sanches, Camila P Aquino, Denise Gonzaga
INTRODUCTION: Hearing loss (HL) affects people worldwide, many of whom are children. Especially in developing countries, epidemiological data on the prevalence of HL are insufficient to implement effective health promotion programs. In this preliminary study with young adults, we describe and validate a tablet-based hearing screening test developed for interactive remote hearing screening and compare the performance of an audiometry screening tablet application with conventional audiometry...
February 22, 2017: Telemedicine Journal and E-health: the Official Journal of the American Telemedicine Association
https://www.readbyqxmd.com/read/28328138/homozygous-mutation-in-ptrh2-gene-causes-progressive-sensorineural-deafness-and-peripheral-neuropathy
#7
Rajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, Milit Marom-David, Nathan Watemberg, Jill E Urquhart, Sarah B Daly, Sanjeev S Bhaskar, Simon G Williams, William G Newman, Ronen Spiegel, Abdussalam Azem, Orly Elpeleg, Muhammad Mahajnah
PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328135/confirmation-of-cagsss-syndrome-as-a-distinct-entity-in-a-danish-patient-with-a-novel-homozygous-mutation-in-iars2
#8
Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, Karin Kastberg Petersen, Janine Altmüller, Holger Thiele, Peter Nürnberg, Tae-Joon Cho, Ok-Hwa Kim, Gen Nishimura, Bernd Wollnik, Ida Vogel
Since the original description of the IARS2-related cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (CAGSSS; OMIM 616007) in an extended consanguineous family of French-Canadian descent, no further patients have been reported. IARS2 (OMIM 612801) encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family, and has been implicated in CAGSSS and a form of Leigh syndrome. Here, we report on a female Danish patient with a novel homozygous IARS2 mutation, p...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327918/developmental-coordination-disorder-in-children-experimental-work-and-data-annotation
#9
Lukas Vareka, Petr Bruha, Roman Moucek, Pavel Mautner, Ladislav Cepicka, Irena Holeckova
Background: Developmental coordination disorder (DCD) is described as a motor skill disorder characterized by a marked impairment in the development of motor coordination abilities that significantly interferes with performance of daily activities and/or academic achievement. Since some electrophysiological studies suggest differences between children with/without motor development problems, we prepared an experimental protocol and performed electrophysiological experiments with the aim to make a step towards a possible diagnosis of this disorder using the event-related potentials (ERP) technique...
February 24, 2017: GigaScience
https://www.readbyqxmd.com/read/28327385/acoustic-startle-modification-as-a-tool-for-evaluating-auditory-function-of-the-mouse-progress-pitfalls-and-potential
#10
REVIEW
Amanda M Lauer, Derik Behrens, Georg Klump
Acoustic startle response (ASR) modification procedures, especially prepulse inhibition (PPI), are increasingly used as behavioral measures of auditory processing and sensorimotor gating in rodents due to their perceived ease of implementation and short testing times. In practice, ASR and PPI procedures are extremely variable across animals, experimental setups, and studies, and the interpretation of results is subject to numerous caveats and confounding influences. We review considerations for modification of the ASR using acoustic stimuli, and we compare the sensitivity of PPI procedures to more traditional operant psychoacoustic techniques...
March 18, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28326996/impact-of-music-on-the-quality-of-life-of-cochlear-implant-users-a-focus-group-study
#11
Giorgos Dritsakis, Rachel M van Besouw, Aoife O' Meara
OBJECTIVE: To study the aspects of the quality of life (QoL) on which music has an impact in adult cochlear implant (CI) users. METHODS: Thirty adult CI users aged between 18 and 81 years old with a wide range of patient characteristics and musical backgrounds participated in the study. Six focus group discussions about music in everyday life were conducted and data were analysed using template analysis based on the QoL model of the World Health Organisation Quality of Life BREF questionnaire...
March 22, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28326677/implantation-and-positioning-of-a-transcutaneous-magnetic-bone-conduction-hearing-system-for-children-with-microtia-in-preparation-for-auricular-reconstruction
#12
Shradha Sharma, Neil Bulstrode, Andrew Marshall
Microtia is a complex congential issue, which can have a functional and psychosocial effect on patients(1) . It can occur spontaneously or as part of a syndrome. Microtia is a condition in which otolaryngologists and plastic surgeons work closely together in order to reconstruct the ear aesthetically whilst facilitating effective aiding. This article is protected by copyright. All rights reserved.
March 22, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28326059/unilateral-cochlear-implantation-reduces-tinnitus-loudness-in-bimodal-hearing-a-prospective-study
#13
Jérôme J Servais, Karl Hörmann, Elisabeth Wallhäusser-Franke
Perceptive and receptive aspects of subjective tinnitus like loudness and tinnitus-related distress are partly independent. The high percentage of hearing loss in individuals with tinnitus suggests causality of hearing impairment particularly for the tinnitus percept, leading to the hypothesis that restoration of auditory input has a larger effect on tinnitus loudness than on tinnitus-related distress. Furthermore, it is assumed that high levels of depression or anxiety prevent reductions of tinnitus loudness and distress following restoration of activity in the cochlea...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28325405/hyperkeratosis-with-visual-and-hearing-disturbances
#14
Steven M Kent, Laura C Cleary, Loretta S Davis
No abstract text is available yet for this article.
April 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28324246/opinions-of-hearing-parents-about-the-causes-of-hearing-impairment-of-their-children-with-biallelic-gjb2-mutations
#15
Aisen V Solovyev, Lilya U Dzhemileva, Olga L Posukh, Nikolay A Barashkov, Marita S Bady-Khoo, Semen L Lobov, Natalya Yu Popova, Georgii P Romanov, Nikolay N Sazonov, Alexander A Bondar, Igor V Morozov, Mikhail I Tomsky, Sardana A Fedorova, Elza K Khusnutdinova
Hereditary hearing impairment (HI) caused by recessive GJB2 mutations is a frequent sensory disorder. The results of the molecular-based studies of HI are widely used in various genetic test systems. However, the ethical aspects are less described than the genetic aspects. The concerns expressed by individuals from groups with genetic risks must be included in the counseling of patients and their families. For evaluation of subjective opinions of hearing parents about the presumed causes of HI of their children, we analyze the cohort of parents having children with confirmed hereditary HI caused by biallelic recessive GJB2 mutations (in a homozygous or a compound heterozygous state)...
March 21, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28323747/supporting-a-youth-with-cerebellar-ataxia-into-adolescence
#16
Veronica Meneses, Zurisadai Gonzalez-Castillo, Veronica B Edgar, Marilyn Augustyn
Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications. Given globally delayed milestones, she received early intervention services. Feeding problems began at infancy, including gastroesophageal reflux and aspiration pneumonia...
March 17, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28323321/observed-hearing-loss-and-incident-dementia-in-a-multiethnic-cohort
#17
Justin S Golub, José A Luchsinger, Jennifer J Manly, Yaakov Stern, Richard Mayeux, Nicole Schupf
OBJECTIVES: To determine whether observed hearing loss (OHL) is associated with incident dementia in a multiethnic population. DESIGN: Prospective epidemiological cohort study. SETTING: Community in northern Manhattan. PARTICIPANTS: Participants in the Washington Heights-Inwood Columbia Aging Project, a longitudinal study on aging and dementia in an ethnically diverse community (n = 1,881). MEASUREMENTS: OHL was defined when the examiner observed it or according to self-reported hearing aid use...
March 21, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28322503/a-novel-aberrant-splice-site-mutation-in-col27a1-is-responsible-for-steel-syndrome-and-extension-of-the-phenotype-to-include-hearing-loss
#18
Nesrin Gariballa, Afif Ben-Mahmoud, Makanko Komara, Aisha M Al-Shamsi, Anne John, Bassam R Ali, Lihadh Al-Gazali
Steel syndrome is an autosomal recessive disease characterized by skeletal abnormalities and dysmorphic features. The first mutation associated with this syndrome was reported in Puerto Rican children. In this study, we identified a novel homozygous splice site variant in COL27A1 (c.3556-2A>G) in a consanguineous Emirati family with a child affected by Steel syndrome. In addition, the affected child had severe non-progressive sensorineural hearing loss not reported previously. The variant segregated in the family in an autosomal recessive manner and we show that the variant alters mRNA splicing...
March 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28322501/multigenerational-pedigree-with-star-syndrome-a-novel-fam58a-variant-and-expansion-of-the-phenotype
#19
Nicole J Boczek, Teresa Kruisselbrink, Margot A Cousin, Patrick R Blackburn, Eric W Klee, Ralitza H Gavrilova, Brendan C Lanpher
STAR syndrome is a rare X-linked dominant disorder characterized by toe Syndactyly, Telecanthus, Anogenital malformations, and Renal malformations, and is caused by loss-of-function variants in FAM58A. Our proband presented with the hallmark features of STAR syndrome, as well as some additional less typical features including tethered cord and hearing loss. The proband's mother and maternal half-sister had similar clinical histories, but had variability in phenotypic severity. Clinical whole exome sequencing revealed a novel pathogenic nonsense variant, c...
March 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28322498/novel-compound-heterozygous-mutations-in-bcs1l-gene-causing-bjornstad-syndrome-in-two-siblings
#20
Mariateresa Falco, Annamaria Franzè, Sandra Iossa, Luigia De Falco, Antonella Gambale, Elio Marciano, Achille Iolascon
Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological variations in BCS1L. Mutations in this gene are also associated with the more severe complex III deficiency and GRACILE syndrome. We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L. A thorough clinical evaluation did not reveal any features consistent with complex III deficiency or GRACILE syndrome...
March 21, 2017: American Journal of Medical Genetics. Part A
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