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https://www.readbyqxmd.com/read/28346477/disruption-of-sorcs2-reveals-differences-in-the-regulation-of-stereociliary-bundle-formation-between-hair-cell-types-in-the-inner-ear
#1
Andrew Forge, Ruth R Taylor, Sally J Dawson, Michael Lovett, Daniel J Jagger
Behavioural anomalies suggesting an inner ear disorder were observed in a colony of transgenic mice. Affected animals were profoundly deaf. Severe hair bundle defects were identified in all outer and inner hair cells (OHC, IHC) in the cochlea and in hair cells of vestibular macular organs, but hair cells in cristae were essentially unaffected. Evidence suggested the disorder was likely due to gene disruption by a randomly inserted transgene construct. Whole-genome sequencing identified interruption of the SorCS2 (Sortilin-related VPS-10 domain containing protein) locus...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28346292/bilateral-labyrinthine-and-internal-auditory-canal-enhancement-in-an-infant-with-severe-labyrinthine-dysplasia-a-previously-unreported-phenomenon
#2
Charles L Anzalone, Mai Lan Ho, Neil S Patel, Lisa A Schimmenti, Melissa D DeJong, Matthew L Carlson
OBJECTIVE: To describe a novel case of congenital profound bilateral sensorineural hearing loss in a patient with bilateral nodular internal auditory canal and labyrinthine enhancement and temporal bone dysplasia. PATIENTS: A 76-day-old female was referred to the authors' center for evaluation of congenital deafness. Behavioral observations and objective audiometric evaluation demonstrated bilateral profound sensorineural hearing loss and a comprehensive multidisciplinary evaluation identified compound heterozygous pathogenic variants in MYO7A, a gene associated with Usher Syndrome Type 1B or DFNB2...
March 24, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28346016/dsl-prescriptive-targets-for-bone-conduction-devices-adaptation-and-comparison-to-clinical-fittings
#3
William E Hodgetts, Susan D Scollie
OBJECTIVE: To develop an algorithm that prescribes targets for bone conduction frequency response shape, compression, and output limiting, along with a clinical method that ensures accurate transforms between assessment and verification stages of the clinical workflow. DESIGN: Technical report of target generation and validation. STUDY SAMPLE: We recruited 39 adult users of unilateral percutaneous bone conduction hearing aids with a range of unilateral, bilateral, mixed and conductive hearing losses across the sample...
March 27, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28345748/risk-perception-and-perceived-self-efficacy-of-deaf-and-hard-of-hearing-seniors-and-young-adults-in-emergencies
#4
Alina Engelman, Susan L Ivey, Winston Tseng, Linda Neuhauser
OBJECTIVES: The authors explored the factors influencing risk perception and perceived self-efficacy before and during an emergency for deaf and hard-of-hearing (Deaf/HH) seniors and young adults. METHODS: The authors collected demographic survey data and conducted four focus groups with 38 Deaf/HH residents of the San Francisco Bay Area; two groups were with young adults (ages 18-35), including one group of college students and one group of young professionals, and two were with older adults (ages 50-90)...
January 2017: Journal of Emergency Management: JEM
https://www.readbyqxmd.com/read/28344430/don-t-assume-deaf-students-are-visual-learners
#5
Marc Marschark, Allan Paivio, Linda J Spencer, Andreana Durkin, Georgianna Borgna, Carol Convertino, Elizabeth Machmer
In the education of deaf learners, from primary school to postsecondary settings, it frequently is suggested that deaf students are visual learners. That assumption appears to be based on the visual nature of signed languages-used by some but not all deaf individuals-and the fact that with greater hearing losses, deaf students will rely relatively more on vision than audition. However, the questions of whether individuals with hearing loss are more likely to be visual learners than verbal learners or more likely than hearing peers to be visual learners have not been empirically explored...
February 2017: Journal of Developmental and Physical Disabilities
https://www.readbyqxmd.com/read/28341401/discovery-of-2-aminophenyl-methanol-as-a-new-molecular-chaperone-that-rescues-the-localization-of-p123s-mutant-pendrin-stably-expressed-in-hek293-cells
#6
Wataru Nabeyama, Kenji Ishihara, Hyun Seung Ban, Hiroshi Wada, Hiroyuki Nakamura
Pendred syndrome is the most common form of syndromic deafness. It is associated with a mutation in the SLC26A4 gene that encodes pendrin, which is thought to maintain the ion concentration of endolymph in the inner ear most likely by acting as a chloride/bicarbonate transporter. Mutations in the SLC26A4 gene are responsible for sensorineural hearing loss. In this study, we established a stable HEK293 cell line expressing P123S mutant pendrin and developed screening methods for compounds that show pharmacological chaperone activity by image analysis using CellInsight™...
March 14, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/28340560/a-novel-pore-region-mutation-c-887g%C3%A2-%C3%A2-a-p-g296d-in-kcnq4-causing-hearing-loss-in-a-chinese-family-with-autosomal-dominant-non-syndromic-deafness-2
#7
Bangqing Huang, Yanping Liu, Xue Gao, Jincao Xu, Pu Dai, Qingwen Zhu, Yongyi Yuan
BACKGROUND: Hereditary non-syndromic hearing loss is the most common inherited sensory defect in humans. The KCNQ4 channel belongs to a family of potassium ion channels that play crucial roles in physiology and disease. Mutations in KCNQ4 underlie deafness non-syndromic autosomal dominant 2, a subtype of autosomal dominant, progressive, high-frequency hearing loss. METHODS: A six-generation Chinese family from Hebei Province with autosomal dominantly inherited, sensorineural, postlingual, progressive hearing loss was enrolled in this study...
March 24, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28338374/the-clinical-features-and-prognosis-of-mumps-associated-hearing-loss-a-retrospective-multi-institutional-investigation-in-japan
#8
Shinya Morita, Keishi Fujiwara, Atsushi Fukuda, Satoshi Fukuda, Shin-Ya Nishio, Ryosuke Kitoh, Naohito Hato, Tetsuo Ikezono, Kotaro Ishikawa, Kimitaka Kaga, Atsushi Matsubara, Tatsuo Matsunaga, Takaaki Murata, Yasushi Naito, Kazunori Nishizaki, Kaoru Ogawa, Hajime Sano, Hiroaki Sato, Michihiko Sone, Mikio Suzuki, Haruo Takahashi, Tetsuya Tono, Hiroshi Yamashita, Tatsuya Yamasoba, Shin-Ichi Usami
CONCLUSIONS: The majority of hearing loss due to mumps presents as unilateral profound sensorineural hearing loss, which is refractory to treatment. In rare cases of bilateral total deafness, cochlear implants were beneficial for speech perception. Vaccination against mumps is recommended to prevent mumps-associated hearing loss. OBJECTIVE: The objective of this study is to investigate the clinical characteristics of hearing loss due to mumps and to evaluate hearing outcomes...
March 24, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28335750/novel-compound-heterozygous-mutations-in-the-otof-gene-identified-by-whole-exome-sequencing-in-auditory-neuropathy-spectrum-disorder
#9
Fengzhu Tang, Dengke Ma, Yulan Wang, Yuecai Qiu, Fei Liu, Qingqing Wang, Qiutian Lu, Min Shi, Liang Xu, Min Liu, Jianping Liang
BACKGROUND: Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normally but the transmission of the signals from inner ear to auditory nerve and brain is injured, also known as auditory neuropathy spectrum disorder (ANSD). The pathogenic mutations of the genes responsible for the Chinese ANSD population remain poorly understood...
March 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28334952/dnmt1-mutations-found-in-hsanie-patients-affect-interaction-with-uhrf1-and-neuronal-differentiation
#10
Martha Smets, Stephanie Link, Patricia Wolf, Katrin Schneider, Veronica Solis, Joel Ryan, Daniela Meilinger, Weihua Qin, Heinrich Leonhardt
DNMT1 is recruited to substrate sites by PCNA and UHRF1 to maintain DNA methylation after replication. The cell cycle dependent recruitment of DNMT1 is mediated by the PCNA-binding domain (PBD) and the targeting sequence (TS) within the N-terminal regulatory domain. The TS domain was found to be mutated in patients suffering from hereditary sensory and autonomic neuropathies with dementia and hearing loss (HSANIE) and autosomal dominant cerebellar ataxia deafness and narcolepsy (ADCA-DN) and is associated with global hypomethylation and site specific hypermethylation...
March 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334795/everyday-stressors-in-deaf-and-hard-of-hearing-adolescents-the-role-of-coping-and-pragmatics
#11
Anat Zaidman-Zait, Adi Dotan
The current mixed-methods study examined everyday problems among deaf and hard of hearing (DHH) adolescents across various life domains. To better understand the factors influencing levels of perceived stress, the impact of DHH adolescents' coping and pragmatic abilities was also examined. Thirty DHH adolescents completed questionnaires about everyday stressors and coping, and 13 of these respondents were interviewed regarding their everyday problems. All participants used spoken language and attended mainstream high schools...
February 17, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/28332898/herpes-simplex-virus-1-and-cytomegalovirus-dnas-detection-in-the-inner-ear-of-implanted-patients-with-non-congenital-infection
#12
Walter Di Nardo, Roberta Anzivino, Paola Cattani, Rosaria Santangelo, Eugenio De Corso, Gaetano Paludetti
CONCLUSIONS: The detection of cytomegalovirus (CMV) and herpes simplex virus-1 (HSV-1) genome in perilymph of patients with negative serology or clinical history for congenital infections supports the hypothesis that Herpesviridae, even after acquired postnatal infections, could remain in latent phase in the spiral ganglion and damage the cochlea by a possible subsequent reactivation. Further studies are needed to identify the markers of such reactivation. OBJECTIVE: To identify the presence of certain viral species in the endolabyrinthic fluid of deaf patients with non-congenital infection...
March 23, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28332767/bcap31-associated-encephalopathy-and-complex-movement-disorder-mimicking-mitochondrial-encephalopathy
#13
Saleh Albanyan, Amal Al Teneiji, Nasim Monfared, Saadet Mercimek-Mahmutoglu
BCAP31, encoded by BCAP31, is involved in the export of transmembrane proteins from the endoplasmic reticulum. Pathogenic variants in BCAP31 results in global developmental delay, dystonia, deafness and dysmorphic features in males, called deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome. We report a new patient with BCAP3-associated encephalopathy, DDCH syndrome, sensorineural hearing loss, generalized dystonia, and choreoathetosis. This 3.5-year-old boy had microcephaly and failure to thrive within the first 3 months of life...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28331642/lemierre-s-syndrome-associated-with-mechanical-ventilation-and-profound-deafness
#14
Lukas Birkner
Lemierre's syndrome is a rare disorder that is characterized by anaerobic organisms inducing a thrombophlebitis of the internal jugular vein (IJV) following a course of oropharyngeal infection. It often occurs in young and healthy patients. Clinicians continuously misinterpret early symptoms until infection disseminates systematically and life-threatening sepsis transpires. We report the case of a 58-year-old female developing Lemierre's syndrome accompanied by invasive ventilation support and a profound deafness requiring the implementation of a cochlear implant...
2017: Case Reports in Infectious Diseases
https://www.readbyqxmd.com/read/28331055/reticular-dysgenesis-international-survey-on-clinical-presentation-transplantation-and-outcome
#15
Manfred Hoenig, Chantal Lagresle-Peyrou, Ulrich Pannicke, Luigi D Notarangelo, Fulvio Porta, Andrew R Gennery, Mary Slatter, Morton J Cowan, Polina Stepensky, Hamoud Al-Mousa, Daifulah Al-Zahrani, Sung-Yun Pai, Waleed Al Herz, Hubert B Gaspar, Paul Veys, Koichi Oshima, Kohsuke Imai, Hiromasa Yabe, Lenora M Noroski, Nico M Wulffraat, Karl-Walter Sykora, Pere Soler-Palacin, Hideki Muramatsu, Mariam Al Hilali, Despina Moshous, Klaus-Michael Debatin, Catharina Schuetz, Eva-Maria Jacobsen, Ansgar S Schulz, Klaus Schwarz, Alain Fischer, Wilhelm Friedrich, Marina Cavazzana
Reticular Dysgenesis (RD) is a rare congenital disorder defined clinically by the combination of severe combined immunodeficiency (SCID), agranulocytosis and sensorineural deafness. Mutations in the gene encoding Adenylate Kinase 2 (AK2) were identified to cause the disorder. Hematopoietic stem cell transplantation (HSCT) is the only option to cure this otherwise fatal disease. Retrospective data on clinical presentation, genetics and outcome of HSCT were collected from centers in Europe, Asia and North America for a total of 32 patients born between 1982 and 2011...
March 22, 2017: Blood
https://www.readbyqxmd.com/read/28329314/sirt1-polymorphisms-and-serum-induced-sirt1-protein-expression-in-aging-and-frailty-the-champ-study
#16
Shajjia Razi, Victoria C Cogger, Marina Kennerson, Vicky L Benson, Aisling C McMahon, Fiona M Blyth, David J Handelsman, Markus J Seibel, Vasant Hirani, Vasikaran Naganathan, Louise Waite, Rafael de Cabo, Robert G Cumming, David G Le Couteur
The nutrient sensing protein, SIRT1 influences aging and nutritional interventions such as caloric restriction in animals, however, the role of SIRT1 in human aging remains unclear. Here, the role of SIRT1 single-nucleotide polymorphisms (SNPs) and serum-induced SIRT1 protein expression (a novel assay that detects circulating factors that influence SIRT1 expression in vitro) were studied in the Concord Health and Ageing in Men Project (CHAMP), a prospective cohort of community dwelling men aged 70 years and older...
March 14, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28328138/homozygous-mutation-in-ptrh2-gene-causes-progressive-sensorineural-deafness-and-peripheral-neuropathy
#17
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/28326947/change-deafness-dual-task-performance-and-domain-specific-expertise
#18
John G Neuhoff, Katharina S Bochtler
In a change deafness manipulation using radio broadcasts of sporting events, we show that change deafness to a switch in talker increases when listeners are asked to monitor both lexical and indexical information for change. We held semantic content constant and demonstrated a change deafness rate of 85% when participants listened to the home team broadcast of a hockey game that switched midway to the away team broadcast with a different announcer. In Study 2 participants were asked to monitor either the indexical characteristics (listen for a change in announcer) or both the indexical and semantic components (listen for a change in announcer or a goal scored)...
March 22, 2017: Quarterly Journal of Experimental Psychology: QJEP
https://www.readbyqxmd.com/read/28325168/impact-of-pharyngofixation-in-cleft-palate-repair-surgery-on-the-development-of-chronic-adhesive-otitis-media
#19
L Otruba, P Schalek, Z Hornáčková
BACKGROUND: A significant percentage of children with cleft palate suffer from otitis media with effusion and its consequences, such as deafness, chronic adhesive otitis and cholesteatoma. This study aimed to determine whether these effects can be minimised by selecting pharyngofixation as the surgical technique for cleft palate correction. METHODS: A retrospective study was performed of 155 patients (308 ears) who underwent surgery from age 5 months to 8 years and were followed up for 36-84 months...
March 22, 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28324246/opinions-of-hearing-parents-about-the-causes-of-hearing-impairment-of-their-children-with-biallelic-gjb2-mutations
#20
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
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