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Progressive hearing loss

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https://www.readbyqxmd.com/read/29142939/negative-staining-for-col4a5-correlates-with-worse-prognosis-and-more-severe-ultrastructural-alterations-in-males-with-alport-syndrome
#1
Samar M Said, Mary E Fidler, Anthony M Valeri, Brooke McCann, Wade Fiedler, Lynn D Cornell, Mariam Priya Alexander, Ahmed M Alkhunaizi, Anne Sullivan, Carl H Cramer, Marie C Hogan, Samih H Nasr
Introduction: Alport syndrome (AS) is a genetic disorder characterized by progressive hematuric nephropathy with or without sensorineural hearing loss and ocular lesions. Previous studies on AS included mostly children. Methods: To determine the prognostic value of loss of staining for collagen type IV alpha 5 (COL4A5) and its relationship with the ultrastructural glomerular basement membrane alterations, we performed direct immunofluorescence using a mixture of fluorescein isothiocyanate-conjugated and Texas-red conjugated antibodies against COL4A5 and COL4A2, respectively, on renal biopsies of 25 males with AS (including 16 who were diagnosed in adulthood)...
January 2017: KI Reports
https://www.readbyqxmd.com/read/29130439/cochlear-implantation-in-children-with-postlingual-progressive-steeply-sloping-high-frequency-hearing-loss
#2
Margaret A Meredith, Jay T Rubinstein, Kathleen C Y Sie, Susan J Norton
BACKGROUND: Children with steeply sloping sensorineural hearing loss (SNHL) lack access to critical high-frequency cues despite the use of advanced hearing aid technology. In addition, their auditory-only aided speech perception abilities often meet Food and Drug Administration criteria for cochlear implantation. PURPOSE: The objective of this study was to describe hearing preservation and speech perception outcomes in a group of young children with steeply sloping SNHL who received a cochlear implant (CI)...
November 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/29116590/detection-of-congenital-cytomegalovirus-in-newborns-using-nucleic-acid-amplification-techniques-and-its-public-health-implications
#3
REVIEW
Guoyu Liu, Rong Hai, Fenyong Liu
Human cytomegalovirus (HCMV), a herpesvirus, is an important human pathogen that causes asymptomatic infections in healthy or immunocompetent individuals but can lead to severe and potentially life-threatening complications in immune-immature individuals such as neonates or immune-compromised patients such as organ-transplant recipients and HIV-positive individuals. Congenital HCMV infection represents a significant public health issue and poses substantial healthcare and economic burden to society. This virus causes the most common viral congenital infection worldwide, and is the leading non-genetic cause of sensorineural hearing loss in children in developed countries...
October 2017: Virologica Sinica
https://www.readbyqxmd.com/read/29112481/diffusion-tensor-imaging-of-central-auditory-pathways-in-patients-with-sensorineural-hearing-loss-a-systematic-review
#4
Osama Tarabichi, Elliott D Kozin, Vivek V Kanumuri, Samuel Barber, Satra Ghosh, Kevin R Sitek, Katherine Reinshagen, Barbara Herrmann, Aaron K Remenschneider, Daniel J Lee
Objective The radiologic evaluation of patients with hearing loss includes computed tomography and magnetic resonance imaging (MRI) to highlight temporal bone and cochlear nerve anatomy. The central auditory pathways are often not studied for routine clinical evaluation. Diffusion tensor imaging (DTI) is an emerging MRI-based modality that can reveal microstructural changes in white matter. In this systematic review, we summarize the value of DTI in the detection of structural changes of the central auditory pathways in patients with sensorineural hearing loss...
November 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29098570/intracranial-melanotic-schwannomas-a-rare-variant-with-unusual-adherent-features
#5
D Mahato, T Vivas-Buitrago, K Gassie, M Jentoft, D Tavanaiepour, A Quiñones-Hinojosa
Intracranial melanotic schwannomas (IMSch) are extremely rare nerve sheath tumors with features of Schwann cells that produce melanin. After a thorough review of the available literature since 1967, we report not only the 20th case of IMSch but a comprehensive modern-era analysis of radiographic and histological key-points to be considered when diagnosing and treating patients with this rare known entity. This is the case of a 43 years-old woman who presented with severe headaches 9 years ago (2008). At that time, MRI of the brain showed a 1...
November 2, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29098097/early-renal-involvement-in-a-girl-with-classic-fabry-disease
#6
Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretche
Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/29097033/-the-tumors-of-the-ear
#7
X Dubernard, J-C Kleiber, E Brenet, M-A Louges, Y Veleine, M Labrousse, M Makeieff, A Bazin, A Chays
Any cutaneous lesion of the outer ear must be managed jointly by a dermatologist and an ENT, regardless of the age of the patient. The presence of a malignant cutaneous carcinoma (Squamous cell carcinoma or melanoma) of the pavilion requires a minimum extension assessment by a cervical ultrasound, CT-scan and MRI will be prescribed according to the degree of infiltration and the presence of clinics signs (lymphadenopathy, facial paralysis, cognitive impairment). A polyp of the external auditory meatus must be systematically biopsied in consultation and, if necessary, in the operating room with fresh anatomopathological analysis...
October 30, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29095508/laser-assisted-fixation-of-a-nitinol-stapes-prosthesis
#8
Florian Schrötzlmair, Fabian Suchan, Thomas Pongratz, Eike Krause, Joachim Müller, Ronald Sroka
BACKGROUND AND OBJECTIVE: Otosclerosis is an inner ear bone disease characterized by fixation of the stapes and consequently progressive hearing loss. One treatment option is the surgical replacement of the stapes by a prosthesis. When so called "smart materials" like nitinol are used, prosthesis fixation can be performed using a laser without manual crimping on the incus. However, specific laser-prosthesis interactions have not been described yet. The aim of the present study was to elucidate the thermo-mechanical properties of the NiTiBOND® prosthesis as a basis for handling instructions for laser-assisted prosthesis fixation...
November 2, 2017: Lasers in Surgery and Medicine
https://www.readbyqxmd.com/read/29094069/third-generation-bisphosphonates-for-cochlear-otosclerosis-stabilizes-sensorineural-hearing-loss-in-long-term-follow-up
#9
Taha A Jan, Aaron K Remenschneider, Christopher Halpin, Margaret Seton, Michael J McKenna, Alicia M Quesnel
Objective: To assess long-term hearing outcomes in patients treated with third-generation bisphosphonates for otosclerosis-related progressive sensorineural hearing loss (SNHL). Study Design: Retrospective case series review. Methods: We performed a retrospective case series review of patients with otosclerosis and progressive SNHL. Patients were treated with either risedronate or zoledronate after a diagnosis of otosclerosis with a significant SNHL component...
October 2017: Laryngoscope Investigative Otolaryngology
https://www.readbyqxmd.com/read/29080812/juvenile-paget-disease
#10
Stergios A Polyzos, Tim Cundy, Christos S Mantzoros
Juvenile Paget disease (JPD) is a rare disorder, mainly caused by mutations in the gene TNFRSF11B that encodes osteoprotegerin (OPG). Loss of OPG action causes generalized, extremely rapid bone turnover. The clinical manifestations are both skeletal - progressive skeletal deformity that develops in childhood - and extra-skeletal, including hearing loss, retinopathy, vascular calcification and internal carotid artery aneurysm formation. The severity of the phenotype seems to be related to the severity of TNFRSF11B gene deactivation...
October 25, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29080147/non-invasive-intraoperative-monitoring-of-cochlear-function-by-cochlear-microphonics-during-cerebellopontine-angle-surgery
#11
Blandine Lourenço, Béatriz Madero, Stéphane Tringali, Xavier Dubernard, Toufic Khalil, André Chays, Arnaud Bazin, Thierry Mom, Paul Avan
In vestibular-schwannoma (VS) surgery, hearing-preservation rate remains low. Besides damage to the cochlear nerve, intraoperative cochlear ischemia is a potential cause of hearing loss. Here, we used non-invasive cochlear microphonic (CM) recordings to detect the cochlear vascular events of VS surgery. Continuous intraoperative CM monitoring, in response to 80-95 dB SPL, 1-kHz tone-bursts, was performed in two samples of patients undergoing retrosigmoid cerebellopontine-angle surgery: one for VS (n = 31) and one for vestibular neurectomy or vasculo-neural conflict causing intractable trigeminal neuralgia, harmless to hearing (n = 19, control group)...
October 27, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29072634/the-analysis-of-a-frequent-tmprss3-allele-containing-p-v116m-and-p-v291l-in-a-cis-configuration-among-deaf-koreans
#12
Ah Reum Kim, Juyong Chung, Nayoung K D Kim, Chung Lee, Woong-Yang Park, Doo-Yi Oh, Byung Yoon Choi
We performed targeted re-sequencing to identify the genetic etiology of early-onset postlingual deafness and encountered a frequent TMPRSS3 allele harboring two variants in a cis configuration. We aimed to evaluate the pathogenicity of the allele. Among 88 cochlear implantees with autosomal recessive non-syndromic hearing loss, subjects with GJB2 and SLC26A4 mutations were excluded. Thirty-one probands manifesting early-onset postlingual deafness were sorted. Through targeted re-sequencing, we detected two families with a TMPRSS3 mutant allele containing p...
October 26, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29059194/role-of-neuropilin-1-semaphorin-3a-signaling-in-the-functional-and-morphological-integrity-of-the-cochlea
#13
Pezhman Salehi, Marshall X Ge, Usha Gundimeda, Leah Michelle Baum, Homero Lael Cantu, Joel Lavinsky, Litao Tao, Anthony Myint, Charlene Cruz, Juemei Wang, Angeliki Maria Nikolakopoulou, Carolina Abdala, Matthew William Kelley, Takahiro Ohyama, Thomas Matthew Coate, Rick A Friedman
Neuropilin-1 (Nrp1) encodes the transmembrane cellular receptor neuropilin-1, which is associated with cardiovascular and neuronal development and was within the peak SNP interval on chromosome 8 in our prior GWAS study on age-related hearing loss (ARHL) in mice. In this study, we generated and characterized an inner ear-specific Nrp1 conditional knockout (CKO) mouse line because Nrp1 constitutive knockouts are embryonic lethal. In situ hybridization demonstrated weak Nrp1 mRNA expression late in embryonic cochlear development, but increased expression in early postnatal stages when cochlear hair cell innervation patterns have been shown to mature...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29054899/lung-adenocarcinoma-metastastic-lesion-in-the-internal-auditory-meatus
#14
Eugene Hung Chih Wong, Daniel Bodmer, Nora Tetter, Yves Brand
Metastasis to the cerebellopontine angle (CPA) or internal auditory meatus (IAM) is rare.We report a rare case of a 69-year-old woman with metastatic lung adenocarcinoma, who presented with 2 weeks history of left-sided hearing loss and progressively worsening vertigo. Examination revealed a left-sided facial nerve palsy while pure tone audiometry (PTA) showed a new left-sided deafness. MRI showed a new enhancing soft tissue lesion in the left IAM, highly suspicious of new metastases from her progressive lung cancer, which contributed to her neuro-otological symptoms...
October 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29050102/-research-progress-on-the-etiology-of-delayed-onset-hearing-loss-in-children
#15
X Y Wang, L H Huang, Y T Du
Newborn hearing screening is an effective method for early detection of hearing loss, however, it is not able to detect delayed-onset hearing loss. By exploring the etiology of delayed-onset hearing loss in children, it can provide a clinical basis for early detection of delayed-onset hearing loss. Mutations in SLC26A4, mitochondrial, GJB2 and other genes, enlarged vestibular aqueduct, congenital cytomegalovirus infection, extracorporeal membrane oxygenation, and auditory neuropathy et al were more commonly reported risk factors...
October 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/29046308/progress-toward-development-of-a-vaccine-against-congenital-cytomegalovirus-infection
#16
Mark R Schleiss, Sallie R Permar, Stanley A Plotkin
A vaccine against congenital human cytomegalovirus (CMV) infection is a major public health priority. Congenital CMV causes substantial long-term morbidity in newborns, particularly sensorineural hearing loss (SNHL), and the public health impact of this infection on maternal and child health is under-recognized. Although progress toward development of a vaccine has been limited by an incomplete understanding of the correlates of protective immunity for the fetus, knowledge about some of the key components of the maternal immune response necessary for preventing trans-placental transmission is accumulating...
October 18, 2017: Clinical and Vaccine Immunology: CVI
https://www.readbyqxmd.com/read/29044151/modeling-and-preventing-progressive-hearing-loss-in-usher-syndrome-iii
#17
Ruishuang Geng, Akil Omar, Suhasini R Gopal, Daniel H-C Chen, Ruben Stepanyan, Martin L Basch, Astra Dinculescu, David N Furness, David Saperstein, William Hauswirth, Lawrence R Lustig, Kumar N Alagramam
Usher syndrome type III (USH3) characterized by progressive loss of vision and hearing is caused by mutations in the clarin-1 gene (CLRN1). Clrn1 knockout (KO) mice develop hair cell defects by postnatal day 2 (P2) and are deaf by P21-P25. Early onset profound hearing loss in KO mice and lack of information about the cochlear cell type that requires Clrn1 expression pose challenges to therapeutic investigation. We generated KO mice harboring a transgene, TgAC1, consisting of Clrn1-UTR (Clrn1 cDNA including its 5' and 3' UTR) under the control of regulatory elements (Atoh1 3' enhancer/β-globin basal promoter) to direct expression of Clrn1 in hair cells during development and down regulate it postnatally...
October 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29037160/-homozygous-and-compound-heterozygous-mutation-in-3-turkish-family-with-jervell-and-lange-nielsen-syndrome-case-reports
#18
Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil, Sehime G Temel
BACKGROUND: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients. CASE PRESENTATIONS: Three patients were admitted into hospital due to recurrent seizures/syncope, intrauterine and postnatal bradycardia respectively; moreover all three patients had congenital sensorineural hearing-loss...
October 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29018325/hearing-loss-controlled-by-optogenetic-stimulation-of-nonexcitable-nonglial-cells-in-the-cochlea-of-the-inner-ear
#19
Mitsuo P Sato, Taiga Higuchi, Fumiaki Nin, Genki Ogata, Seishiro Sawamura, Takamasa Yoshida, Takeru Ota, Karin Hori, Shizuo Komune, Satoru Uetsuka, Samuel Choi, Masatsugu Masuda, Takahisa Watabe, Sho Kanzaki, Kaoru Ogawa, Hidenori Inohara, Shuichi Sakamoto, Hirohide Takebayashi, Katsumi Doi, Kenji F Tanaka, Hiroshi Hibino
Light-gated ion channels and transporters have been applied to a broad array of excitable cells including neurons, cardiac myocytes, skeletal muscle cells and pancreatic β-cells in an organism to clarify their physiological and pathological roles. Nonetheless, among nonexcitable cells, only glial cells have been studied in vivo by this approach. Here, by optogenetic stimulation of a different nonexcitable cell type in the cochlea of the inner ear, we induce and control hearing loss. To our knowledge, deafness animal models using optogenetics have not yet been established...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28994037/pathophysiology-diagnosis-and-treatment-of-inherited-distal-renal-tubular-acidosis
#20
REVIEW
Nilufar Mohebbi, Carsten A Wagner
Distal renal tubular acidosis (dRTA) is a tubular disorder with a primary defect of urinary acidification and acid excretion in the collecting duct system. Consequently, patients develop hyperchloremic metabolic acidosis with an inappropriately alkaline urine. Inherited forms of dRTA are due to mutations in at least three distinct genes: SLC4A1, ATP6V1B1, ATP6V0A4. Mutations in SLC4A1-(AE1) are inherited either in an autosomal dominant manner or in a recessive one. ATP6V1B and ATP6V0A4 mutations affect two different subunits of the vacuolar H(+)-ATPase proton-pump, the B1 and a4 subunits, and are inherited in an autosomal recessive manner...
October 9, 2017: Journal of Nephrology
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