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https://www.readbyqxmd.com/read/28239347/hearing-dysfunction-in-xpa-deficient-mice
#1
Hitomi Shinomiya, Daisuke Yamashita, Takeshi Fujita, Eiji Nakano, Go Inokuchi, Shingo Hasegawa, Naoki Otsuki, Chikako Nishigori, Ken-Ichi Nibu
Xeroderma pigmentosum (XP) is a rare recessive heredity disease caused by DNA repair impairment characterized by photosensitivity and neurologic symptoms in half of the cases. There are eight subtypes of XP: XP-A-XP-G and XP variant. Among eight subtypes, XP complementation group A (XP-A) display the lowest DNA repair ability and the severest cutaneous and neurologic symptoms. While its pathogenesis of skin symptoms have been well-studied, that of neurological symptoms, including sensorineural hearing loss (SNHL) remains unknown...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28238634/the-cumulative-effects-of-intravenous-antibiotic-treatments-on-hearing-in-patients-with-cystic-fibrosis
#2
Angela C Garinis, Campbell P Cross, Priya Srikanth, Kelly Carroll, M Patrick Feeney, Douglas H Keefe, Lisa L Hunter, Daniel B Putterman, David M Cohen, Jeffrey A Gold, Peter S Steyger
BACKGROUND: Aminoglycosides (AGs) and glycopeptides are antibiotics essential for treating life-threatening respiratory infections in patients with cystic fibrosis (CF). The goal of this study was to examine the effects of cumulative intravenous (IV)-AG (amikacin and/or tobramycin) and/or glycopeptide (vancomycin) dosing on hearing status in patients with CF. METHODS: Hearing thresholds were measured from 0.25 to 16.0kHz, in 81 participants with CF. Participants were categorized into two groups: normal hearing in both ears (≤25dB HL for all frequency bands) or hearing loss (>25dB HL for any frequency band in either ear)...
February 23, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/28237380/newborn-dried-blood-spot-polymerase-chain-reaction-to-identify-infants-with-congenital-cytomegalovirus-associated-sensorineural-hearing-loss
#3
Shannon A Ross, Amina Ahmed, April L Palmer, Marian G Michaels, Pablo J Sánchez, Audra Stewart, David I Bernstein, Kristina Feja, Karen B Fowler, Suresh B Boppana
OBJECTIVE: To determine the utility of dried blood spot (DBS) polymerase chain reaction (PCR) in identifying infants with cytomegalovirus (CMV) infection-associated sensorineural hearing loss (SNHL). STUDY DESIGN: Newborns at 7 US hospitals between March 2007 and March 2012 were screened for CMV by saliva rapid culture and/or PCR. Infected infants were monitored for SNHL during the first 4 years of life to determine sensitivity, specificity, and positive and negative likelihood ratios of DBS PCR for identifying CMV-associated SNHL...
February 22, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28236514/familial-hematuria-a-review
#4
REVIEW
Pavlína Plevová, Josef Gut, Jan Janda
The most frequent cause of familial glomerular hematuria is thin basement membrane nephropathy (TBMN) caused by germline COL4A3 or COL4A4 gene mutations. Less frequent but important cause with respect to morbidity is Alport syndrome caused by germline COL4A5 gene mutations. The features of Alport syndrome include hematuria, proteinuria and all males with X-linked disease and all individuals with recessive disease will develop end stage renal disease, usually at early youth. In X-linked Alport syndrome, a clear genotype-phenotype correlation is typically observed in men...
January 31, 2017: Medicina
https://www.readbyqxmd.com/read/28236341/ednrb-mutations-cause-waardenburg-syndrome-type-ii-in-the-heterozygous-state
#5
Sarah Issa, Nadege Bondurand, Emmanuelle Faubert, Sylvain Poisson, Laure Lecerf, Patrick Nitschke, Naima Deggouj, Natalie Loundon, Laurence Jonard, Albert David, Yves Sznajer, Patricia Blanchet, Sandrine Marlin, Veronique Pingault
Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from the neural crest, with type I and type II being the most frequent. While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases. We performed exome sequencing in a WS2 index case and identified a heterozygous missense variation in EDNRB...
February 24, 2017: Human Mutation
https://www.readbyqxmd.com/read/28231364/analysis-of-caloric-test-responses-in-sudden-hearing-loss
#6
Cheng-Ping Shih, Yu-Ching Chou, Hsin-Chien Chen, Jih-Chin Lee, Yueng-Hsiang Chu, Chih-Hung Wang
Sudden sensorineural hearing loss is characterized by a rapid-onset hearing loss that develops within 3 days. Vertigo may also be present. We conducted a retrospective study to investigate whether the severity of a loss of caloric function is associated with the initial hearing loss and with hearing recovery. Our study population was made up of 135 patients-67 men and 68 women, aged 25 to 71 years (mean: 50.9)-with sudden sensorineural hearing loss who had undergone bithermal caloric testing. We compared various patient factors according to patients' hearing level and their response to caloric testing...
February 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28226026/diabetes-mellitus-and-sensorineural-hearing-loss-is-there-an-association-baseline-of-the-brazilian-longitudinal-study-of-adult-health-elsa-brasil
#7
Alessandra G Samelli, Itamar S Santos, Renata R Moreira, Camila M Rabelo, Laurie P Rolim, Isabela J Bensenõr, Paulo A Lotufo
OBJECTIVES: Although several studies have investigated the effects of diabetes on hearing loss, the relationship between these two conditions remains unclear. Some studies have suggested that diabetes may cause sensorineural hearing loss, whereas others have failed to find an association. The biggest challenge in investigating the association between diabetes and hearing loss is the presence of confounding variables and the complexity of the auditory system. Our study investigated the association between diabetes and sensorineural hearing loss...
January 1, 2017: Clinics
https://www.readbyqxmd.com/read/28225872/sensorineural-hearing-loss-as-the-first-manifestation-of-sj%C3%A3-gren-s-syndrome
#8
Raquel Sousa Almeida, Ana Alves Oliveira, Petra M Pego, Yahia Abuowda, Iuri Gaspar, João Matos Costa
No abstract text is available yet for this article.
January 1, 2017: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/28225734/auditory-performance-and-electrical-stimulation-measures-in-cochlear-implant-recipients-with-auditory-neuropathy-compared-with-severe-to-profound-sensorineural-hearing-loss
#9
Joseph Attias, Tally Greenstein, Miriam Peled, David Ulanovski, Jay Wohlgelernter, Eyal Raveh
OBJECTIVES: The aim of the study was to compare auditory and speech outcomes and electrical parameters on average 8 years after cochlear implantation between children with isolated auditory neuropathy (AN) and children with sensorineural hearing loss (SNHL). DESIGN: The study was conducted at a tertiary, university-affiliated pediatric medical center. The cohort included 16 patients with isolated AN with current age of 5 to 12.2 years who had been using a cochlear implant for at least 3...
March 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28224621/laboratory-assessment-of-sudden-sensorineural-hearing-loss-a-case-control-study
#10
Tommaso Fasano, Thelma A Pertinhez, Lorenzo Tribi, Daniela Lasagni, Annalisa Pilia, Luigi Vecchia, Roberto Baricchi, Giovanni Bianchin
OBJECTIVES/HYPOTHESIS: Sudden sensorineural hearing loss (SSHL) is an otologic emergency that affects five to 30 subjects per 100,000/year. The cause of SSHL remains unknown or uncertain in 70% to 90% of cases, and treatment decisions are usually made without knowing the etiology. STUDY DESIGN: Prospective case-control study. METHODS: One hundred thirty-one idiopathic SSHL patients were recruited from January 2014 to June 2015 in concordance with the Statements of Clinical Practice Guideline and divided into groups according to the disease severity...
February 22, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28224282/micrornas-effective-elements-in-ear-related-diseases-and-hearing-loss
#11
REVIEW
Mohammad-Reza Mahmoudian-Sani, Ameneh Mehri-Ghahfarrokhi, Fereshteh Ahmadinejad, Morteza Hashemzadeh-Chaleshtori, Massoud Saidijam, Mohammad-Saeid Jami
miRNAs are important factors for post-transcriptional process that controls gene expression at mRNA level. Various biological processes, including growth and differentiation, are regulated by miRNAs. miRNAs have been demonstrated to play an essential role in development and progression of hearing loss. Nowadays, miRNAs are known as critical factors involved in different physiological, biological, and pathological processes, such as gene expression, progressive sensorineural hearing loss, age-related hearing loss, noise-induced hearing loss, cholesteatoma, schwannomas, and inner ear inflammation...
February 21, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28223066/audiological-findings-in-children-with-mucopolysaccharidoses-type-i-iv
#12
María F Vargas-Gamarra, Carlos de Paula-Vernetta, Isidro Vitoria Miñana, Isabel Ibañez-Alcañiz, Laura Cavallé-Garrido, Agustín Alamar-Velazquez
OBJECTIVE: The aim of our study is to reflect hearing impairment of 23children diagnosed with mucopolysaccharidosis (MPS) typeI, II, III and IV. METHODS: Retrospective study of the clinical, audiological and treatment (medical vs surgical) findings of 23children diagnosed with MPS typeI, II, III or IV followed at a Tertiary Referral Hospital between 1997 and 2015. RESULTS: Six cases of MPSI, 8 of MPSII, 4 of MPSIII and 5 of MPSIV were reviewed...
February 18, 2017: Acta Otorrinolaringológica Española
https://www.readbyqxmd.com/read/28222800/exome-sequencing-identifies-slc26a4-gjb2-scarb2-and-duox2-mutations-in-2-siblings-with-pendred-syndrome-in-a-malaysian-family
#13
Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu, Rahman Jamal
BACKGROUND: Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism. METHODS AND RESULTS: Whole exome sequencing was performed on 2 sisters with PDS and their unaffected parents. Our results showed that both sisters inherited monoallelic mutations in the 2 known PDS genes, SLC26A4 (ENST00000265715:c...
February 21, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28219178/-a-review-about-the-research-progress-of-the-acoustical-electrical-transducer-for-totally-implantable-cochlear-implant
#14
X D Xu, F L Chi
Cochlear implantation has become a crucial approach for the treatment for patients with severe and profound sensorineural hearing loss. However, some patients would be embarrassed by the exterior components, which limited the patient's social activities. The idea of totally implantable cochlear implant (TICI) was put forward to alleviate these inconveniences. The implantable acoustical-electrical transducer would be a breakthrough in the study of TICI. In this paper, a summary of all kinds of designs ideas was made...
February 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28218014/bilateral-otoneurological-pathology-to-operate-or-not
#15
Shivun Khosla, Matthew Elliot, Neil Donnelly
OBJECTIVE: To illustrate our experience when managing a complex patient with potentially life-threatening bilateral otological disease facing multisensory compromise including complete loss of audiovestibular function and visual disturbance Clinical presentation: A 67 year old lady, presented with a large left vestibular schwannoma and extensive right cholesteatoma encircling the otic capsule. She underwent translabyrinthine resection of the vestibular schwannoma, resulting in profound sensorineural hearing loss, vestibular hypofunction and corneal scarring following an initial temporary facial palsy...
February 20, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28212886/primary-ameloblastoma-of-the-temporal-bone
#16
Andro Košec, Jakov Ajduk, Mihael Ries, Robert Trotić
Ameloblastoma is a locally aggressive tumor derived from odontogenic epithelium. Although benign, its clinical behavior can often exhibit malignant characteristics. It is marked by slow and persistent growth with infiltration of adjacent tissues. Almost 70% occur in the mandible in patients older than 30 years. Recurrence of ameloblastoma from inadequate treatment is frequent. Because of its slow growth, recurrences can present decades after primary surgery. A primary ameloblastoma in an area outside the mandibular, maxillary, and infratemporal fossa regions has not been described in detail to date, with only 1 possible case mentioned in the literature...
January 24, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28209807/blast-injury-of-the-ear-by-massive-explosion-a-review-of-41-cases
#17
Stanislas Ballivet de Régloix, A Crambert, O Maurin, Q Lisan, S Marty, Y Pons
BACKGROUND: Blast injuries in modern warfare are common, and the ear is often affected as it is an effective pressure transducer. This study aimed to evaluate military blast injuries of the ear. METHODS: From May 2002 to October 2014, all patients referred to two military hospitals near Paris, France following exposure to massive explosions were analysed. RESULTS: Among the 41 patients (82 ears), 36 of them reported tinnitus, 25 hearing loss, 14 earache and 8 vertigo...
February 16, 2017: Journal of the Royal Army Medical Corps
https://www.readbyqxmd.com/read/28209771/hearing-loss-in-children-with-asymptomatic-congenital-cytomegalovirus-infection
#18
Tatiana M Lanzieri, Winnie Chung, Marily Flores, Peggy Blum, A Chantal Caviness, Stephanie R Bialek, Scott D Grosse, Jerry A Miller, Gail Demmler-Harrison
OBJECTIVES: To assess the prevalence, characteristics, and risk of sensorineural hearing loss (SNHL) in children with congenital cytomegalovirus infection identified through hospital-based newborn screening who were asymptomatic at birth compared with uninfected children. METHODS: We included 92 case-patients and 51 controls assessed by using auditory brainstem response and behavioral audiometry. We used Kaplan-Meier survival analysis to estimate the prevalence of SNHL, defined as ≥25 dB hearing level at any frequency and Cox proportional hazards regression analyses to compare SNHL risk between groups...
February 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28207627/letter-to-the-editor-regarding-oyewumi-m-wolter-ne-heon-e-gordon-ka-papsin-bc-cushing-sl-using-balance-function-to-screen-for-vestibular-impairment-in-children-with-sensorineural-hearing-loss-and-cochlear-implants
#19
https://www.readbyqxmd.com/read/28207624/combined-intratympanic-and-systemic-use-of-steroids-as-a-first-line-treatment-for-sudden-sensorineural-hearing-loss-a-meta-analysis-of-randomized-controlled-trials
#20
Xue Han, Xiao Yin, Xiaodong Du, Changling Sun
OBJECTIVE: To compare the efficacy of combination therapy (combined intratympanic and systemic use of steroids, CT) with systemic steroid therapy (SST) as a primary treatment for sudden sensorineural hearing loss (SSNHL). METHODS: An electronic database search (PubMed, Embase, Cochrane Library, and CNKI databases) was performed. Review Manger 5.3 was used for data synthesis. Data were collected on the following outcomes of interest: the proportion of patients with hearing improvement, changes in pure tone averages (PTA), and speech discrimination score (SDS)...
February 15, 2017: Otology & Neurotology
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