keyword
MENU ▼
Read by QxMD icon Read
search

Progressive hearing loss

keyword
https://www.readbyqxmd.com/read/29782633/macrothrombocytopenia-renal-dysfunction-and-nephrotic-syndrome-in-a-young-male-patient-a-case-report-of-myh9-related-disease
#1
Gabriela Sevignani, Giovana Memari Pavanelli, Sibele Sauzem Milano, Bianca Ramos Ferronato, Maria Aparecida Pachaly, Hae Ii Cheong, Mauricio de Carvalho, Fellype Carvalho Barreto
MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts...
May 17, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29780963/the-cochlear-implant-and-possibilities-for-narrowing-the-remaining-gaps-between-prosthetic-and-normal-hearing
#2
Blake S Wilson
Background: The cochlear implant has become the standard of care for severe or worse losses in hearing and indeed has produced the first substantial restoration of a lost or absent human sense using a medical intervention. However, the devices are not perfect and many efforts to narrow the remaining gaps between prosthetic and normal hearing are underway. Objective: To assess the present status of cochlear implants and to describe possibilities for improving them...
December 2017: World Journal of Otorhinolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29780422/cochlear-implantation-in-charcot-marie-tooth-disease-case-report-and-review-of-the-literature
#3
C Lane Anzalone, Sarah Nuhanovic, Amy P Olund, Matthew L Carlson
Introduction: Charcot-Marie-Tooth (CMT) disease is a peripheral hereditary neuropathy associated with motor and sensory impairment and can result in profound sensorineural hearing loss (SNHL). Currently, the role of cochlear implantation in the setting of CMT and other progressive peripheral neurodegenerative disorders is not well established. Methods: Case report and review of the English literature. Results: A 70-year-old male with CMT was referred for evaluation of progressive asymmetric SNHL and reported a 15-year duration of deafness involving the left ear...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/29776323/low-frequency-sensorineural-hearing-loss-in-familial-hemophagocytic-lymphohistiocytosis-type-5
#4
Aren Bezdjian, Hanneke Bruijnzeel, Julia Pagel, Sam J Daniel, Hans G X M Thomeer
INTRODUCTION: Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease affecting the cytotoxic pathway. Due to the recent advances in molecular diagnosis, immuno-chemo therapy, and hematopoietic stem cell transplantation treatment, FHL survival rates have drastically increased. CASE PRESENTATION: Herein, we describe a case of FHL type 5 presenting with low-frequency sensorineural hearing loss. Alongside our reported case, 6 additional patients were identified in the literature...
June 2018: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/29775031/-neurofeedback-therapy-in-the-treatment-of-tinnitus
#5
REVIEW
Z Q Zhao, G X Lei, Y L Li, D Zhang, W D Shen, S M Yang, Y H Qiao
Neurofeedback therapy is a fast-growing field of tinnitus treatment, which is a new type of biofeedback therapy. In the past, the "muscle tone" and "blood flow" were used as feedback signals in biofeedback therapy to treat tinnitus, however there was no long-term follow-up report. Instead, neurofeedback therapy utilizes EEG (electroencephalogram) as the feedback signal, which is also called EEG biofeedback therapy. At present, most treatments of tinnitus only record subjective measures of patients as evaluation indicators, whereas neurofeedback therapy is more convincing for using comprehensive evaluation including changes of brain wave as objective indicators and subjective measures of patients...
February 2018: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/29770645/atoh1-regulation-in-the-cochlea-more-than-just-transcription
#6
REVIEW
Yen-Fu Cheng
More than 80% of all cases of deafness are related to the death or degeneration of cochlear hair cells and the associated spiral ganglion neurons, and a lack of regeneration of these cells leads to permanent hearing loss. Therefore, the regeneration of lost hair cells is an important goal for the treatment of deafness. Atoh1 is a basic helix-loop-helix (bHLH) transcription factor that is critical in both the development and regeneration of cochlear hair cells. Atoh1 is transcriptionally regulated by several signaling pathways, including Notch and Wnt signalings...
July 13, 2017: Journal of Zhejiang University. Science. B
https://www.readbyqxmd.com/read/29769117/a-protocol-for-a-network-meta-analysis-of-interventions-to-treat-patients-with-sudden-sensorineural-hearing-loss
#7
Nadera Ahmadzai, Shaun Kilty, Dianna Wolfe, Jamie Bonaparte, David Schramm, Elizabeth Fitzpatrick, Vincent Lin, Wei Cheng, Becky Skidmore, David Moher, Brian Hutton
BACKGROUND: Hearing loss is one of the leading causes of disability worldwide, with greater than 20% of Canadian adults having measurable hearing loss in at least one ear. Patients with hearing loss experience impaired quality of life, and emotional and financial consequences that affect themselves and their families. Sudden sensorineural hearing loss (SSNHL) is a common but difficult to treat form of hearing loss that has a sudden onset of ≤ 72 h associated with various etiologies, with the majority of cases being idiopathic...
May 16, 2018: Systematic Reviews
https://www.readbyqxmd.com/read/29765451/sequencing-of-exons-4-5-12-of-coch-gene-in-patients-with-postlingual-sensorineural-hearing-loss-accompanied-by-vestibular-lesion
#8
Marzena Mielczarek, Jurek Olszewski, Piotr Pietkiewicz
Introduction: Mutations at the DFNA9 locus on chromosome 14q12 are the third most common form of DFNA hearing loss, which is clinically characterized by late onset (in adulthood) progressive sensorineural hearing loss accompanied by vestibular dysfunction. The aim of the study was to search for COCH gene mutations (P51S, V66G, G87W, G88E, V104del, I109N, W117R, A119T, M512T, C542Y) in patients with severe or profound sensorineural hearing loss accompanied by a vestibular lesion. Material and methods: The study was based on a group of 30 patients...
April 2018: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/29743779/hearing-threshold-status-and-risk-estimate-of-hearing-impairment-among-administrative-workforce
#9
Joydeep Majumder, Ramanlal C Patel, Sanjay Kotadiya, Priyanka Shah
Background: Administrative workers working in quieter environment workplace are considered unaffected by noise-induced hearing loss (NIHL). Aim: To create a baseline data of the administrative workers so as to monitor them with prospective years of exposure with the hypothesis that workers working in the administrative jobs may not be affected by NIHL. Settings and Design: The study was conducted among men and women administrative workers working in an office in Ahmedabad city, India...
January 2018: Indian Journal of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/29741741/microsurgical-resection-of-glomus-jugulare-tumors-with-facial-nerve-reconstruction-3-dimensional-operative-video
#10
Duarte N C Cândido, Jean Gonçalves de Oliveira, Luis A B Borba
Paragangliomas are tumors originating from the paraganglionic system (autonomic nervous system), mostly found at the region around the jugular bulb, for which reason they are also termed glomus jugulare tumors (GJT). Although these lesions appear to be histologically benign, clinically they present with great morbidity, especially due to invasion of nearby structures such as the lower cranial nerves. These are challenging tumors, as they need complex approaches and great knowledge of the skull base. We present the case of a 31-year-old woman, operated by the senior author, with a 1-year history of tinnitus, vertigo, and progressive hearing loss, that evolved with facial nerve palsy (House-Brackmann IV) 2 months before surgery...
May 8, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29733894/cochlear-hair-cell-regeneration-an-emerging-opportunity-to-cure-noise-induced-sensorineural-hearing-loss
#11
REVIEW
Ibrahima Youm, Wei Li
In mammals, cochlear hair cells have a pivotal role in transducing mechanical energy into electrical signals. Cochlear hair cells are sensitive to acoustic trauma, drug insults, aging, and environmental or genetic influences that can cause permanent hearing loss. Currently, much research is focusing on noise-induced sensorineural hearing loss (SNHL). Noise-induced SNHL is primarily caused by damage to hair cells of the cochlear sensory epithelium. Here, we summarize progress in restoring the sensory epithelium after SNHL resulting from noise exposure...
May 4, 2018: Drug Discovery Today
https://www.readbyqxmd.com/read/29726933/genetic-landscape-of-auditory-dysfunction
#12
Michael R Bowl, S D M Brown
Over the past 25 years, human and mouse genetics research together has identified several hundred genes essential for mammalian hearing, leading to a greater understanding of the molecular mechanisms underlying auditory function. However, from the number of still as yet uncloned human deafness loci and the findings of large-scale mouse mutant screens, it is clear we are still far from identifying all of the genes critical for auditory function. In particular, while we have made great progress in understanding the genetic bases of congenital and early-onset hearing loss, we have only just begun to elaborate upon the genetic landscape of age-related hearing loss...
May 2, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29724652/a-novel-homozygous-ndrg1-mutation-in-a-chinese-patient-with-charcot-marie-tooth-disease-4d
#13
Bin Chen, Songtao Niu, Na Chen, Hua Pan, Xingao Wang, Zaiqiang Zhang
Charcot-Marie-Tooth disease 4D (CMT4D) is characterized by severe peripheral neuropathy and deafness. It is caused by mutations in the N-myc downstream-regulated gene 1 (NDRG1). We report a Chinese man with a homozygous mutation c.675C > T of NDRG1 that resulted in Q185X, representing the third known CMT4D patient of non-European ancestry. The patient presented with a 15-year-long history of progressive limb weakness accompanied by hearing loss and dysarthria. There was abnormal differentiation and increased interpeak latencies in brainstem auditory evoked potentials...
April 30, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29717656/delayed-recovery-in-pediatric-sudden-sensorineural-hearing-loss-predicted-via-magnetic-resonance-imaging
#14
Xuan Wu, Hongyan Jiang, Lanying Wen, Ling Zong, Kaitian Chen
OBJECTIVES: To evaluate the potential origins via magnetic resonance imaging and the relevant hearing recovery course of pediatric sudden sensorineural hearing loss. METHODS: We retrospectively analyzed data of 25 pediatric patients from our center with sudden sensorineural hearing loss from January 2011 to December 2016. All individuals were closely followed up at baseline and 1 and 6 months. RESULTS: Magnetic resonance imaging identified presumed causes in 9 cases, 5 of which showed intralabyrinthine hyperintensity, suggesting presumptive intralabyrinthine hemorrhage...
April 1, 2018: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/29713870/elmod3-a-novel-causative-gene-associated-with-human-autosomal-dominant-nonsyndromic-and-progressive-hearing-loss
#15
Wu Li, Jie Sun, Jie Ling, Jiada Li, Chufeng He, Yalan Liu, Hongsheng Chen, Meichao Men, Zhijie Niu, Yuyuan Deng, Meng Li, Taoxi Li, Jie Wen, Shushan Sang, Haibo Li, Zhengqing Wan, Elodie M Richard, Prem Chapagain, Denise Yan, Xue Zhong Liu, Lingyun Mei, Yong Feng
Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a highly genetically heterogeneous disorder. Up to date only approximately 37 ADNSHL-causing genes have been identified. The goal of this study was to determine the causative gene in a five-generation Chinese family with ADNSHL. A Chinese family was ascertained. Simultaneously, two affected individuals and one normal hearing control from the family were analyzed by whole exome capture sequencing. To assess the functional effect of the identified variant, in-vitro studies were performed...
April 2018: Human Genetics
https://www.readbyqxmd.com/read/29703829/old-gene-new-phenotype-splice-altering-variants-in-ceacam16-cause-recessive-non-syndromic-hearing-impairment
#16
Kevin T Booth, Kimia Kahrizi, Hossein Najmabadi, Hela Azaiez, Richard Jh Smith
BACKGROUND: Hearing loss is a genetically and phenotypically heterogeneous disorder. OBJECTIVES: The purpose of this study was to determine the genetic cause underlying the postlingual progressive hearing loss in two Iranian families. METHODS: We used OtoSCOPE, a next-generation sequencing platform targeting >150 genes causally linked to deafness, to screen two deaf probands. Data analysis was completed using a custom bioinformatics pipeline, and variants were functionally assessed using minigene splicing assays...
April 27, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29698804/phenotype-variability-in-hajdu-cheney-syndrome
#17
Miriam Regev, Ben Pode-Shakked, Jeffrey M Jacobson, Annick Raas-Rothschild, David B Goldstein, Yair Anikster
Hajdu Cheney syndrome is a rare autosomal dominant skeletal dysplasia, with multi-organ involvement, caused by pathogenic variants in NOTCH2. It is characterized by progressive focal bone destruction, including acro-osteolysis and generalized osteoporosis, craniofacial anomalies, hearing loss, cardiovascular involvement and polycystic kidneys. Distinct radiographic findings, such as a serpentine fibula, may aid in facilitating the diagnosis. Despite several dozens of cases described in the literature, diagnosis often remains elusive, resulting in many cases in a delay in diagnosis reaching adolescence or adulthood...
April 23, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29680680/pneumolabyrinth-intracochlear-and-vestibular-fluid-loss-after-cochlear-implantation
#18
Hideaki Moteki, Yasunari Fujinaga, Tetsuya Goto, Shin-Ichi Usami
The present case was a 38-year-old male who presented with progressive hearing loss, resulting in profound bilateral hearing loss. He had a past history of childhood medulloblastoma, which was treated with posterior fossa craniotomy and radiotherapy. A ventriculoperitoneal (VP) shunt was put in place to manage the hydrocephalus. Cochlear implantation (CI) was carried out on his right ear by a standard procedure. At CI activation, the electric impedance of the electrode was very high, and computed tomography revealed that there was no area of liquid density, suggesting depletion of the perilymph in the cochlea and vestibule...
April 18, 2018: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/29671961/tmtc2-variant-associated-with-sensorineural-hearing-loss-and-auditory-neuropathy-spectrum-disorder-in-a-family-dyad
#19
Hector Guillen-Ahlers, Christy B Erbe, Frédéric D Chevalier, Maria J Montoya, Kip D Zimmerman, Carl D Langefeld, Michael Olivier, Christina L Runge
BACKGROUND: Sensorineural hearing loss (SNHL) is a common form of hearing loss that can be inherited or triggered by environmental insults; auditory neuropathy spectrum disorder (ANSD) is a SNHL subtype with unique diagnostic criteria. The genetic factors associated with these impairments are vast and diverse, but causal genetic factors are rarely characterized. METHODS: A family dyad, both cochlear implant recipients, presented with a hearing history of bilateral, progressive SNHL, and ANSD...
April 19, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29663880/the-plasma-membrane-calcium-atpases-in-calcium-signaling-network
#20
Xiaomo Wu, Liqiang Weng, Jinyan Zhang, Xiaolong Liu, Jianqing Huang
The plasma membrane Ca2+ ATPases (PMCAs) are responsible for the clearance of Ca2+ out of cells after intracellular Ca2+ transients. Cooperating with Na+/Ca2+ exchangers (NCXs) and Ca2+ buffering proteins, PMCAs play an essential role in maintaining the long-term cellular Ca2+ homeostasis. The plasma membrane Ca2+ ATPase was first discovered in red blood cell membrane about 50 years ago, and then other PMCA isoforms and alternatively spliced variants had been identified from different tissues and different developmental stages, revealing a surprising complexity of the PMCA family...
April 16, 2018: Current Protein & Peptide Science
keyword
keyword
22142
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"