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https://www.readbyqxmd.com/read/28806779/a-mutation-in-nischarin-causes-otitis-media-via-limk1-and-nf-%C3%AE%C2%BAb-pathways
#1
Michael Crompton, Tom Purnell, Hayley E Tyrer, Andrew Parker, Greg Ball, Rachel E Hardisty-Hughes, Richard Gale, Debbie Williams, Charlotte H Dean, Michelle M Simon, Ann-Marie Mallon, Sara Wells, Mahmood F Bhutta, Martin J Burton, Hilda Tateossian, Steve D M Brown
Otitis media (OM), inflammation of the middle ear (ME), is a common cause of conductive hearing impairment. Despite the importance of the disease, the aetiology of chronic and recurrent forms of middle ear inflammatory disease remains poorly understood. Studies of the human population suggest that there is a significant genetic component predisposing to the development of chronic OM, although the underlying genes are largely unknown. Using N-ethyl-N-nitrosourea mutagenesis we identified a recessive mouse mutant, edison, that spontaneously develops a conductive hearing loss due to chronic OM...
August 14, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28806500/doxepin-mitigates-noise-induced-neuronal-damage-in-primary-auditory-cortex-of-mice-via-suppression-of-acid-sphingomyelinase-ceramide-pathway
#2
Yu-Ting Su, Xing-Xing Meng, Xi Zhang, Yi-Bin Guo, Hai-Jun Zhang, Yao-Ping Cheng, Xiao-Ping Xie, Yao-Ming Chang, Jun-Xiang Bao
Neuronal damage in primary auditory cortex (A1) underlies complex manifestations of noise exposure, prevention of which is critical for health maintenance. Acid sphingomyelinase (ASM) catalyzes generation of ceramide (Cer) which if over-activated mediates neuronal disorders in various diseases. Tricyclic antidepressants (TCAs), by restraining ASM/Cer, benefits multiple neuronal anomalies, so we aimed to elucidate the effect of TCA on noise induced hearing loss and auditory cortex derangement, unraveling mechanism involved...
August 14, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28806342/cognitive-abilities-and-quality-of-life-after-cochlear-implantation-in-the-elderly
#3
Marie-Hortense Sonnet, Bettina Montaut-Verient, Jean-Yves Niemier, Michel Hoen, Laurence Ribeyre, Cécile Parietti-Winkler
OBJECTIVE: To evaluate quality of life (QoL) and cognitive function in elderly patients with cochlear implants relative to auditory improvement, using geriatric validated scales. STUDY DESIGN: Prospective observational study. SETTING: A tertiary referral center for cochlear implantation (CI) and a geriatric center in Nancy, France. PATIENTS: Sixteen consecutive patients were included, from 65 to 80 years old, with postlingual severe-to-profound deafness...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28806341/impact-of-cochlear-implantation-on-cognitive-functions-of-older-adults-pilot-test-results
#4
Dona M P Jayakody, Peter L Friedland, Esmeralda Nel, Ralph N Martins, Marcus D Atlas, Hamid R Sohrabi
BACKGROUND: A significant relationship between hearing loss and cognitive impairment has been previously reported. Overall, improvement in speech perception in quiet and quality of life has been observed after cochlear implantation. However, the impact of hearing loss treatment using cochlear implantation on cognitive functions is yet to be fully elucidated. OBJECTIVE: To investigate the impact of cochlear implantation on cognitive and psychological functions of older adults...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28806340/the-impact-of-comorbidities-in-the-aging-population-on-cochlear-implant-outcomes
#5
Brent Jerome Wilkerson, Sandra F Porps, Seilesh C Babu
OBJECTIVES: Cochlear implants have been used for many years for bilateral profound hearing loss. General longevity has continued to increase and, therefore, the age at which cochlear implants are placed has concomitantly increased. Our purpose is to determine whether outcomes and complications are significantly different in the elderly. STUDY DESIGN: Retrospective, clinical review. SETTING: Tertiary referral center, primarily ambulatory setting...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28806339/cognitive-evaluation-of-cochlear-implanted-adults-using-codex-and-moca-screening-tests
#6
Emmanuèle Ambert-Dahan, Shirley Routier, Lucie Marot, Didier Bouccara, Olivier Sterkers, Evelyne Ferrary, Isabelle Mosnier
OBJECTIVE: The relationship between hearing loss and cognitive function has already been established. The objective of our study was to determine whether the two short cognitive tests, COgnitive Disorders EXamination (CODEX) and Montreal Cognitive Assessment (MoCA), could be used in daily clinical practice to detect cognitive impairment, and its changes after cochlear implantation. PATIENTS: Eighteen patients with severe to profound postlingual progressive hearing loss (mean age ± SEM: 64 ± 3...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28806334/cochlear-implantation-in-postlingual-adult-patients-with-long-term-auditory-deprivation
#7
Maria Del Mar Medina, Ruben Polo, Auxiliadora Gutierrez, Alfonso Muriel, Miguel Vaca, Cecilia Perez, Adela Cordero, Ignacio Cobeta
OBJECTIVE: The role of long-term hearing deprivation in cochlear implant performance is not well established, and the limits for implanting an auditory deprived ear are still unknown. The objective of this study was to evaluate the effect of long-term auditory deprivation time on cochlear implant results. STUDY DESIGN: Retrospective case review study. SETTING: Cochlear implantation tertiary referral center. PATIENTS: Adult patients with postlingual deafness...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28806332/linking-deafness-and-dementia-challenges-and-opportunities
#8
Vincent Y W Lin, Sandra E Black
: The rising incidence of dementia locally and worldwide has now reached a critical level. The associated costs associated with these individuals will ultimately be untenable to most societies. Furthermore there is a paucity of highly effective treatments. However, the recent discovery of the association of hearing loss and dementia may open many potential opportunities. Although we still are acquiring knowledge on the pathophysiology of this association, clinicians are hopeful that our current highly effective treatments of hearing loss may ultimately be shown to have a positive effect on those with dementia...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28806331/cochlear-implants-meet-regenerative-biology-state-of-the-science-and-future-research-directions
#9
Alain Dabdoub, Koji Nishimura
: The cochlear implant, the first device to restore a human sense, is an electronic substitute for lost mechanosensory hair cells. It has been successful at providing hearing to people with severe to profound hearing loss and as of 2012, an estimated 324,000 patients worldwide have received cochlear implants. Users of cochlear implants however, suffer from difficulties in processing complex sounds such as music and in discriminating sounds in noisy environments. Recent advances in regenerative biology and medicine are opening new avenues for enhancing the efficacy of cochlear implants by improving the neural interface in the future and offer the possibility of an entirely biological solution for hearing loss in the long term...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28806311/evaluation-of-maximal-speech-intelligibility-with-vibrant-soundbridge-in-patients-with-sensorineural-hearing-loss
#10
Hyun-Jin Lee, Jeon Mi Lee, Jae Young Choi, Jinsei Jung
OBJECTIVE: The study investigated improvements in maximal speech intelligibility after Vibrant Soundbridge (VSB) implantation and analyzed the effect of the hearing loss pattern on maximal speech intelligibility represented by a phonetically balanced word score (PBmax). The effect of middle ear implants on PBmax has not been evaluated yet. STUDY DESIGN: Study. SETTING: Tertiary academic medical center. PATIENTS/INTERVENTIONS: Sixty patients who underwent VSB from December 2011 to January 2016 were retrospectively reviewed...
August 10, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28806193/speech-perception-in-noise-and-listening-effort-of-older-adults-with-nonlinear-frequency-compression-hearing-aids
#11
James Shehorn, Nicole Marrone, Thomas Muller
OBJECTIVES: The purpose of this laboratory-based study was to compare the efficacy of two hearing aid fittings with and without nonlinear frequency compression, implemented within commercially available hearing aids. Previous research regarding the utility of nonlinear frequency compression has revealed conflicting results for speech recognition, marked by high individual variability. Individual differences in auditory function and cognitive abilities, specifically hearing loss slope and working memory, may contribute to aided performance...
August 10, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28805100/older-adults-with-a-combination-of-vision-and-hearing-impairment-experience-higher-rates-of-cognitive-impairment-functional-dependence-and-worse-outcomes-across-a-set-of-quality-indicators
#12
Jacob G S Davidson, Dawn M Guthrie
OBJECTIVES: Hearing and vision impairment were examined across several health-related outcomes and across a set of quality indicators (QIs) in home care clients with both vision and hearing loss (or dual sensory impairment [DSI]). METHOD: Data collected using the Resident Assessment Instrument for Home Care (RAI-HC) were analyzed in a sample of older home care clients. The QIs represent the proportion of clients experiencing negative outcomes (e.g., falls, social isolation)...
August 1, 2017: Journal of Aging and Health
https://www.readbyqxmd.com/read/28803710/intrathecal-2-hydroxypropyl-%C3%AE-cyclodextrin-decreases-neurological-disease-progression-in-niemann-pick-disease-type-c1-a-non-randomised-open-label-phase-1-2-trial
#13
Daniel S Ory, Elizabeth A Ottinger, Nicole Yanjanin Farhat, Kelly A King, Xuntian Jiang, Lisa Weissfeld, Elizabeth Berry-Kravis, Cristin D Davidson, Simona Bianconi, Lee Ann Keener, Ravichandran Rao, Ariane Soldatos, Rohini Sidhu, Kimberly A Walters, Xin Xu, Audrey Thurm, Beth Solomon, William J Pavan, Bernardus N Machielse, Mark Kao, Steven A Silber, John C McKew, Carmen C Brewer, Charles H Vite, Steven U Walkley, Christopher P Austin, Forbes D Porter
BACKGROUND: Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing, 2-hydroxypropyl-β-cyclodextrins (HPβCD) significantly delayed cerebellar Purkinje cell loss, slowed progression of neurological manifestations, and increased lifespan in mouse and cat models of NPC1. The aim of this study was to assess the safety and efficacy of lumbar intrathecal HPβCD. METHODS: In this open-label, dose-escalation phase 1-2a study, we gave monthly intrathecal HPβCD to participants with NPC1 with neurological manifestation at the National Institutes of Health (NIH), Bethesda, MD, USA...
August 10, 2017: Lancet
https://www.readbyqxmd.com/read/28803703/viral-hijacking-of-formins-in-neurodevelopmental-pathologies
#14
REVIEW
Karen Racicot, Sarah VanOeveren, Art Alberts
The 2015 Zika virus (ZIKV) outbreak caused global concern when it was determined to cause microcephaly, hearing loss, and other neurodevelopmental manifestations upon fetal exposure. Significant progress has been made in our understanding of the interactions between ZIKV and the pregnant host, but there is still a critical need to understand how ZIKV and other neurotropic viruses affect fetal neurodevelopment. Diaphanous-related formins (Diaphs) have recently been identified as microcephaly-associated proteins in humans and mice...
August 10, 2017: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/28802389/cholesteatoma-as-a-complication-of-langerhans-cell-histiocytosis-of-the-temporal-bone-a-nationwide-cross-sectional-analysis
#15
Jonathan C Simmonds, Mark Vecchiotti
OBJECTIVE: To determine if patients with Langerhans Cell Histiocytosis (LCH) of the temporal bone have a higher risk of developing cholesteatoma. METHODS: Review of literature and cross-sectional weighted analysis of patients under 19 with a diagnosis of LCH from the National Inpatient Sample (NIS) and Kids' Inpatient Database (KID) from 2000 to 2013. ICD-9 codes and demographics were analyzed; pairwise comparisons and multivariate analyses were performed. RESULTS: Only seven cases of cholesteatoma after the treatment for LCH of the temporal bone have been documented in the literature...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802383/absence-of-kcnq4-mutation-in-bengali-families-with-adnshl-originated-from-west-bengal-india
#16
Bidisha Adhikary, Biswabandhu Bankura, Subhradev Biswas, Silpita Paul, Madhusudan Das
OBJECTIVE: Autosomal Dominant Non-Syndromic Hearing Loss (ADNSHL) is extremely heterogeneous in nature. More than 60 loci with 30 different genes have been identified linked to ADNSHL. Mutation in KCNQ4 is considered as one of the most common causative factor responsible for ADNSHL. No study focused on the genetic alteration of KCNQ4 gene among hearing loss patients in India. The present study for the first time was carried out to determine the mutation spectrum of KCNQ4 gene in ADNSHL patients of West Bengal state, India...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802377/an-innovative-approach-to-improve-ear-nose-and-throat-surgical-access-for-remote-living-cape-york-indigenous-children
#17
Susan P Jacups, Denise Newman, Deborah Dean, Ann Richards, Kate M McConnon
INTRODUCTION: On a background of high rates of severe otitis media (OM) with associated hearing loss, children from the Torres Strait and Cape York region requiring ear, nose and throat (ENT) surgery, faced waiting times exceeding three years. After numerous clinical safety incidents were raised, indicating a failure of the current system to deliver appropriate care, the governing Hospital and Health service opted to deliver surgical care through an alternate process. ENT surgeries were performed on 16 consented children from two remote locations via the private health care system, funded by a health provider partnership...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802369/the-first-sporadic-case-of-dfna11-identified-by-next-generation-sequencing
#18
Yuka Kaneko, Atsuko Nakano, Yukiko Arimoto, Kiyomitsu Nara, Hideki Mutai, Tatsuo Matsunaga
We report the first sporadic case of nonsyndromic autosomal dominant hearing loss (DFNA11). The patient was a 5-year-old boy with moderate bilateral hearing loss. Targeted next-generation sequencing analysis of patient DNA identified a known heterozygous DFNA11 mutation, c.689C > T, in MYO7A, encoding p.Ala230Val. The mutation was not detected in the parents of the patient and is considered to be de novo. This mutation is identical to the one reported previously in an Italian family. Accumulation of mutation data increases the feasibility of identifying autosomal dominant mutations in sporadic sensorineural hearing loss...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802365/exploring-reasons-for-late-identification-of-children-with-early-onset-hearing-loss
#19
Elizabeth M Fitzpatrick, Johnny Cesconetto Dos Santos, Viviane Grandpierre, JoAnne Whittingham
INTRODUCTION: Several studies have shown that early identification of childhood hearing loss leads to better language outcomes. However, delays in the confirmation of hearing loss persist even in the presence of well-established universal newborn hearing screening programs (UNHS). The objective of this population-based study was to document the proportion of children who experienced delayed confirmation of congenital and early onset hearing loss in a UNHS program in one region of Canada...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802360/resolution-of-bilateral-sensorineural-hearing-loss-following-ventriculoperitoneal-shunt-and-literature-review
#20
A Jamshidi, C Glidewell, J Murnick, S Magge, B K Reilly
OBJECTIVE: The purpose of this study is to highlight the relationship between obstructive hydrocephalus, changes in intracranial pressure, and sensorineural hearing loss. METHODS: A case of a 10-month old infant with sensorineural hearing loss secondary to obstructive hydrocephalus is reported. A literature review, with a focus on sensorineural hearing loss in the setting of changes in intracranial pressure, was performed. RESULTS: The authors report the case of a 10-month old infant with metopic and bicoronal craniosynostosis who presented with bilateral moderately severe sensorineural hearing loss after failing newborn hearing screening...
September 2017: International Journal of Pediatric Otorhinolaryngology
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