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https://www.readbyqxmd.com/read/28102197/a-novel-dominant-gjb2-dfna3-mutation-in-a-chinese-family
#1
Hongyang Wang, Kaiwen Wu, Lan Yu, Linyi Xie, Wenping Xiong, Dayong Wang, Jing Guan, Qiuju Wang
To decipher the phenotype and genotype of a Chinese family with autosomal dominant non-syndromic hearing loss (ADNSHL) and a novel dominant missense mutation in the GJB2 gene (DFNA3), mutation screening of GJB2 was performed on the propositus from a five-generation ADNSHL family through polymerase chain reaction amplification and Sanger sequencing. The candidate variation and the co-segregation of the phenotype were verified in all ascertained family members. Targeted genes capture and next-generation sequencing (NGS) were performed to explore additional genetic variations...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28102004/prevalence-and-causes-of-hearing-impairment-in-fundong-health-district-north-west-cameroon
#2
Silvia Ferrite, Islay Mactaggart, Hannah Kuper, Joseph Oye, Sarah Polack
OBJECTIVE: To estimate the prevalence and causes of hearing impairment in Fundong Health District, North West Cameroon. METHODS: We selected 51 clusters of 80 people through probability proportionate to size sampling. Initial hearing screening was undertaken through an otoacoustic emission (OAE) test. Participants aged 4+ years who failed this test in both ears or for whom an OAE reading could not be taken underwent a manual pure-tone audiometry (PTA) screening...
January 18, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28101972/an-evaluation-of-the-quality-of-evidence-available-to-inform-current-bone-conduction-hearing-device-national-policy
#3
Rishi Mandavia, Alex Carter, Nadine Haram, Elias Mossialos, Anne Gm Schilder
OBJECTIVES: In 2016 NHS England published the commissioning policy on Bone Conducting Hearing Devices (BCHDs). This policy was informed by updated evidence on the clinical and cost effectiveness of BCHDs as well as by the 2013 Bone Anchored Hearing Aid (BAHA) policy. Commissioning policies set the criteria for service delivery and therefore have a major impact on the care received by patients. It is important that stakeholders have a good appreciation of the available evidence informing policy, since this will promote engagement both with the policy as well as with future research leading on from the policy...
January 18, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28100581/diabetes-mellitus-and-the-incidence-of-hearing-loss-a-cohort-study
#4
Min-Beom Kim
No abstract text is available yet for this article.
January 18, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28099568/progressive-hearing-loss-and-cerebellar-ataxia-in-anti-ma2-associated-autoimmune-encephalitis
#5
Paulo Victor Sgobbi de Souza, Thiago Bortholin, Wladimir Bocca Vieira de Rezende Pinto, Adrialdo José Santos
No abstract text is available yet for this article.
January 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28099493/different-phenotypes-of-the-two-chinese-probands-with-the-same-c-889g-a-p-c162y-mutation-in-coch-gene-verify-different-mechanisms-underlying-autosomal-dominant-nonsyndromic-deafness-9
#6
Qi Wang, Peipei Fei, Hongbo Gu, Yanmei Zhang, Xiaomei Ke, Yuhe Liu
OBJECTIVES: By analyzing the different phenotypes of two Chinese DFNA9 families with the same mutation located in the intervening region between the LCCL and vWFA domains of cochlin and testing the functional changes in the mutant cochlin, we investigated the different pathogeneses for mutations in LCCL and vWFA domains. METHODS: Targeted next-generation sequencing for deafness-related genes was used to identify the mutation in the proband in family #208. The probands of family #208 and family #32 with the same p...
2017: PloS One
https://www.readbyqxmd.com/read/28097979/-this-diagnosis-can-be-extremely-scary
#7
Tamsin Newton-Snow
Neurofibromatosis type 2 (NF2) is a rare genetic disorder that occurs in an estimated one in 35,000 people. The condition is often life-limiting and involves tumours growing on the nervous system, typically on the hearing nerves, brain and spine. While the tumours are mainly benign, they can lead to hearing loss, deafness and problems with balance and mobility. Most patients will need surgery or other treatments for NF2-related brain or spinal cord tumours at some point in their lives.
January 18, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28097918/the-hearing-benefit-of-cochlear-implantation-for-individuals-with-unilateral-hearing-loss-but-no-tinnitus
#8
Henryk Skarzynski, Artur Lorens, Marika Kruszynska, Anita Obrycka, Dorota Pastuszak, Piotr Henryk Skarzynski
CONCLUSION: Cochlear implants improve the hearing abilities of individuals with unilateral hearing loss and no tinnitus. The benefit is no different from that seen in patients with unilateral hearing loss and incapacitating tinnitus. OBJECTIVE: To evaluate hearing outcomes after cochlear implantation in individuals with unilateral hearing loss and no tinnitus and compare them to those obtained in a similar group who had incapacitating tinnitus. METHODS: Six cases who did not experience tinnitus before operation and 15 subjects with pre-operative tinnitus were evaluated with a structured interview, a monosyllabic word test under difficult listening situations, a sound localization test, and an APHAB (abbreviated profile of hearing aid benefit) questionnaire...
January 18, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28096590/posterior-cerebral-stroke-an-unusual-cause-of-postoperative-bilateral-sensorineural-hearing-loss-after-laparoscopic-surgery
#9
Jyotsna Punj, Nagaraj, Divya, P Preetam, Vanlal Darlong, Ravindra Pandey
No abstract text is available yet for this article.
October 2016: Journal of Anaesthesiology, Clinical Pharmacology
https://www.readbyqxmd.com/read/28096187/gprasp2-a-novel-causative-gene-mutated-in-an-x-linked-recessive-syndromic-hearing-loss
#10
Guangqian Xing, Jun Yao, Chunyu Liu, Qinjun Wei, Xuli Qian, Lingxin Wu, Yajie Lu, Xin Cao
BACKGROUND: A substantial amount of nuclear genes have been identified to be implicated in genetic hearing loss, while X-linked hearing loss is genetically heterogeneous and relatively infrequent. OBJECTIVE: To identify the causative gene mutation in a five-generation Chinese family with an X-linked recessive syndromic hearing loss (SHL). METHODS: Targeted X-chromosome exome sequencing was conducted, and cosegregation analysis was performed in the members of the affected family...
January 17, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28094540/examining-mechanisms-underlying-fear-control-in-the-extended-parallel-process-model
#11
Brian L Quick, Nicole R LaVoie, Tobias Reynolds-Tylus, Andrea Martinez-Gonzalez, Chris Skurka
This investigation sought to advance the extended parallel process model in important ways by testing associations among the strengths of efficacy and threat appeals with fear as well as two outcomes of fear-control processing, psychological reactance and message minimization. Within the context of print ads admonishing against noise-induced hearing loss (NIHL) and the fictitious Trepidosis virus, partial support was found for the additive model with no support for the multiplicative model. High efficacy appeals mitigated freedom threat perceptions across both contexts...
January 17, 2017: Health Communication
https://www.readbyqxmd.com/read/28094021/neuropsychological-characteristics-of-encephalopathy-in-susac-s-syndrome-case-report
#12
Magdalena Roessler-Górecka, Tadeusz Mendel, Justyna Wiśniowska, Joanna Seniów
Susac's Syndrome (SS) is a rare, autoimmune angiopathy characterized by hearing loss, retinal artery occlusions and encephalopathy, which is usually expressed in multifocal neurological signs and symptoms, confusion state and cognitive impairment. There have been few descriptions of neuropsychological assessment of SS. We present a case study of 29-year-old woman who developed full SS. During the post-acute stage of disease, she was admitted to neurorehabilitation ward to improve her cognitive-behavioral and motor functioning...
January 10, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28093008/hearing-loss-associated-gene-detection-in-neonatal-intensive-care-unit
#13
S M Yang, Ying Liu, C Liu, A H Yin, Y F Wu, X E Zheng, H M Yang, J Yang
OBJECTIVE: To investigate the frequency and mutation spectrum of hearing loss associated gene mutation in Neonatal Intensive Care Unit (NICU). METHODS: Neonates (n = 2305) admitted to NICU were enrolled in this study. Nine prominent hearing loss associated genes, GJB2 (35 del G, 176 del 16,235 del C, 299 del AT), GJB3 (538 C > T), SLC26A4 (IVS7-2A > G, 2168 A > G) and mtDNA 12S rRNA(1555 A > G, 1494 C > T), were detected. RESULT: There were 73 cases hearing-loss-associated gene mutation among 2305 cases, the mutation frequency was 3...
January 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28092246/-neonatal-hearing-screening-and-early-intervention-a-screening-program-to-evaluate-all-infants-to-identify-the-hearing-impaired
#14
Beatriz González-Jiménez, Efrén Delgado-Mendoza, Rafael Rojano-González, Florencia Valdez-Izaguirre, Pedro Gutiérrez-Aguilar, Félix Guillermo Márquez-Celedonio, Mario González-Santes
BACKGROUND: Neonatal Hearing Screening and Early Intervention (NHSEI) is a screening program to evaluate all infants and identify those with hearing impairment. The objective of this work was to determine the factors associated with hearing loss in NHSEI program. METHODS: Analytical cross-sectional study was performed. 234 infants were included in the NHSEI program, hearing was evaluated with transitory evoked otoacoustic emissions (TEOE) at frequencies of 1.5 to 4...
January 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28092097/complications-and-parent-satisfaction-in-pediatric-osseointegrated-bone-conduction-hearing-implants
#15
Kenny H Chan, Dexiang Gao, Emily L Jensen, Gregory C Allen, Stephen P Cass
OBJECTIVE: To assess long-term complication rate and parental satisfaction of osseointegrated bone conduction hearing implants (OBCHIs). STUDY DESIGN: Retrospective chart review of children undergoing OBCHIs. METHODS: A retrospective chart review of children undergoing OBCHIs for the treatment of conductive, mixed, and single-sided sensorineural hearing loss in children. RESULTS: Forty-five subjects were identified with 0...
January 16, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28089922/x-linked-elliptocytosis-with-impaired-growth-is-related-to-mutated-ammecr1
#16
Lina Basel-Vanagaite, Nir Pillar, Ofer Isakov, Pola Smirin-Yosef, Irina Lagovsky, Naama Orenstein, Mali Salmon-Divon, Hannah Tamary, Tami Zaft, Lily Bazak, Joseph Meyerovitch, Tal Pelli, Shay Botchan, Luba Farberov, Daphna Weissglas, Noam Shomron
In this study, we report a family with X-linked recessive syndrome caused by mutated AMMECR1 and characterized by elliptocytosis with or without anemia, midface hypoplasia, proportionate short stature and hearing loss. Recently, mutations in AMMECR1 were reported in two maternal half-brothers, presenting with nephrocalcinosis, midface hypoplasia and, in one of the siblings, deafness and elliptocytosis. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex)...
January 9, 2017: Gene
https://www.readbyqxmd.com/read/28089576/conditional-deletion-of-pejvakin-in-adult-outer-hair-cells-causes-progressive-hearing-loss-in-mice
#17
Suzan L Harris, Marcin Kazmierczak, Tina Pangršič, Prahar Shah, Nadiya Chuchvara, Alonso Barrantes-Freer, Tobias Moser, Martin Schwander
Mutations in the Pejvakin (Pjvk) gene cause autosomal recessive hearing loss DFNB59 with audiological features of auditory neuropathy spectrum disorder (ANSD) or cochlear dysfunction. The precise mechanisms underlying the variable clinical phenotypes of DFNB59 remain unclear. Here, we demonstrate that mice with conditional ablation of the Pjvk gene in all sensory hair cells or only in outer hair cells (OHCs) show similar auditory phenotypes with early-onset profound hearing loss. By contrast, loss of Pjvk in adult OHCs causes a slowly progressive hearing loss associated with OHC degeneration and delayed loss of inner hair cells (IHCs), indicating a primary role for pejvakin in regulating OHC function and survival...
January 9, 2017: Neuroscience
https://www.readbyqxmd.com/read/28089173/use-of-interactive-ibooks-for-patient-education-in-otology
#18
Omid Moshtaghi, Yarah M Haidar, Ronald Sahyouni, Ramin Rajaii, Afsheen Moshtaghi, Amin Mahmoodi, Yaser Ghavami, Harrison W Lin, Hamid R Djalilian
INTRODUCTION: Physicians in the ambulatory setting face challenges in adequately educating patients in a brief office encounter. OBJECTIVE: To evaluate the efficacy of an iPad-based interactive educational module (iBook) in various otologic pathologies. METHODS: Patients presenting with symptoms of tinnitus, dizziness, hearing loss, or cochlear implant evaluation were included. In total, 44 patients received the iBook and 22 patients served as controls...
December 29, 2016: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28088980/indicators-for-continuous-quality-improvement-for-otitis-media-in-primary-health-care-for-aboriginal-and-torres-strait-islander-children
#19
Beverly Sibthorpe, Jason Agostino, Harvey Coates, Sharon Weeks, Deborah Lehmann, Marianne Wood, Francis Lannigan, Daniel McAullay
Otitis media is a common, generally self-limiting childhood illness that can progress to severe disease and have lifelong sequelae, including hearing loss and developmental delays. Severe disease is disproportionately prevalent among Aboriginal and Torres Strait Islander children. Primary health care is at the frontline of appropriate prevention and treatment. Continuous quality improvement in the prevention and management of important causes of morbidity in client populations is accepted best practice in primary health care and now a requirement of Australian Government funding to services providing care for Aboriginal and Torres Strait Islander children...
January 16, 2017: Australian Journal of Primary Health
https://www.readbyqxmd.com/read/28087419/cochlear-synaptopathy-in-acquired-sensorineural-hearing-loss-manifestations-and-mechanisms
#20
REVIEW
M Charles Liberman, Sharon G Kujawa
Common causes of hearing loss in humans - exposure to loud noise or ototoxic drugs and aging - often damage sensory hair cells, reflected as elevated thresholds on the clinical audiogram. Recent studies in animal models suggest, however, that well before this overt hearing loss can be seen, a more insidious, but likely more common, process is taking place that permanently interrupts synaptic communication between sensory inner hair cells and subsets of cochlear nerve fibers. The silencing of affected neurons alters auditory information processing, whether accompanied by threshold elevations or not, and is a likely contributor to a variety of perceptual abnormalities, including speech-in-noise difficulties, tinnitus and hyperacusis...
January 10, 2017: Hearing Research
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