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Sensorineural hearing loss

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https://www.readbyqxmd.com/read/28333777/arteriovenous-lesions-of-the-internal-auditory-canal
#1
Charles L Anzalone, John I Lane, Michael J Link, Matthew L Carlson
OBJECTIVE: To describe a unique case of an asymptomatic arteriovenous lesion of the internal auditory canal (IAC) and present the associated imaging findings. METHODS: Retrospective case report and review of the literature. RESULTS: A 55-year-old man presented for further evaluation of a left-sided sudden sensorineural hearing loss that occurred 8 years earlier. Careful review of outside serial magnetic resonance (MR) imaging revealed a contralateral, ill-defined right-sided IAC mass with low T2 signal and subtle peripheral enhancement on postcontrast T1-weighted sequencing...
March 22, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28332898/herpes-simplex-virus-1-and-cytomegalovirus-dnas-detection-in-the-inner-ear-of-implanted-patients-with-non-congenital-infection
#2
Walter Di Nardo, Roberta Anzivino, Paola Cattani, Rosaria Santangelo, Eugenio De Corso, Gaetano Paludetti
CONCLUSIONS: The detection of cytomegalovirus (CMV) and herpes simplex virus-1 (HSV-1) genome in perilymph of patients with negative serology or clinical history for congenital infections supports the hypothesis that Herpesviridae, even after acquired postnatal infections, could remain in latent phase in the spiral ganglion and damage the cochlea by a possible subsequent reactivation. Further studies are needed to identify the markers of such reactivation. OBJECTIVE: To identify the presence of certain viral species in the endolabyrinthic fluid of deaf patients with non-congenital infection...
March 23, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28332767/bcap31-associated-encephalopathy-and-complex-movement-disorder-mimicking-mitochondrial-encephalopathy
#3
Saleh Albanyan, Amal Al Teneiji, Nasim Monfared, Saadet Mercimek-Mahmutoglu
BCAP31, encoded by BCAP31, is involved in the export of transmembrane proteins from the endoplasmic reticulum. Pathogenic variants in BCAP31 results in global developmental delay, dystonia, deafness and dysmorphic features in males, called deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome. We report a new patient with BCAP3-associated encephalopathy, DDCH syndrome, sensorineural hearing loss, generalized dystonia, and choreoathetosis. This 3.5-year-old boy had microcephaly and failure to thrive within the first 3 months of life...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28330550/-the-type-of-traumatic-sensorineural-hearing-loss-affects-diagnostic-and-medico-legal-assessment
#4
Steen Gimsing
Traumatic sensorineural hearing loss (TSHN) is mostly a high-frequency loss resembling noise-induced hearing loss (NIHL). However, approx. 25% of TSHN audiograms differ from NIHL in being of the slope, flat or low-frequency type. The physical properties of the trauma influence the audiogram shape, and the great individual variation of susceptibility to TSHN indicates the importance of genetic factors as well. As TSHN, like NIHL, predominantly is of a metabolic rather than a mechanical nature, its magnitude and configuration may change considerably during the first weeks after the causative incident...
March 20, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28330066/endolymphatic-hydrops-imaging-why-oving-from-semi-quantitative-to-anatomical-based-evaluation
#5
Michael Eliezer, Irène Tropres, Alexandre Krainik, Arnaud Attye
INTRODUCTION: Recently, the semi-quantitative ratio grading for endolymphatic hydrops (EH) was found as none specific of MD because all healthy subjects referred with at least one hydrops location with this grading method and 3D-FLAIR sequence. The objectives of this study were to assess the EH prevalence in MD using both the semi-quantitative ratio method of grading and the Saccule to Utricle Ration Inversion (SURI) technique with two 3D-FLAIR sequences, closely similar except for the inversion time of the sequence...
March 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28328494/hearing-aid-technology-for-the-21st-century-a-proposal-for-universal-wireless-connectivity-and-improved-sound-quality
#6
Richard Einhorn
Approximately 360 million people in the world live with a debilitating hearing loss. The most common conditions-age-related and noise-induced sensorineural hearing loss-are both progressive and, for the foreseeable future, neither curable nor reversible.
March 2017: IEEE Pulse
https://www.readbyqxmd.com/read/28328138/homozygous-mutation-in-ptrh2-gene-causes-progressive-sensorineural-deafness-and-peripheral-neuropathy
#7
Rajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, Milit Marom-David, Nathan Watemberg, Jill E Urquhart, Sarah B Daly, Sanjeev S Bhaskar, Simon G Williams, William G Newman, Ronen Spiegel, Abdussalam Azem, Orly Elpeleg, Muhammad Mahajnah
PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328135/confirmation-of-cagsss-syndrome-as-a-distinct-entity-in-a-danish-patient-with-a-novel-homozygous-mutation-in-iars2
#8
Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, Karin Kastberg Petersen, Janine Altmüller, Holger Thiele, Peter Nürnberg, Tae-Joon Cho, Ok-Hwa Kim, Gen Nishimura, Bernd Wollnik, Ida Vogel
Since the original description of the IARS2-related cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (CAGSSS; OMIM 616007) in an extended consanguineous family of French-Canadian descent, no further patients have been reported. IARS2 (OMIM 612801) encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family, and has been implicated in CAGSSS and a form of Leigh syndrome. Here, we report on a female Danish patient with a novel homozygous IARS2 mutation, p...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28322503/a-novel-aberrant-splice-site-mutation-in-col27a1-is-responsible-for-steel-syndrome-and-extension-of-the-phenotype-to-include-hearing-loss
#9
Nesrin Gariballa, Afif Ben-Mahmoud, Makanko Komara, Aisha M Al-Shamsi, Anne John, Bassam R Ali, Lihadh Al-Gazali
Steel syndrome is an autosomal recessive disease characterized by skeletal abnormalities and dysmorphic features. The first mutation associated with this syndrome was reported in Puerto Rican children. In this study, we identified a novel homozygous splice site variant in COL27A1 (c.3556-2A>G) in a consanguineous Emirati family with a child affected by Steel syndrome. In addition, the affected child had severe non-progressive sensorineural hearing loss not reported previously. The variant segregated in the family in an autosomal recessive manner and we show that the variant alters mRNA splicing...
March 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28322498/novel-compound-heterozygous-mutations-in-bcs1l-gene-causing-bjornstad-syndrome-in-two-siblings
#10
Mariateresa Falco, Annamaria Franzè, Sandra Iossa, Luigia De Falco, Antonella Gambale, Elio Marciano, Achille Iolascon
Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological variations in BCS1L. Mutations in this gene are also associated with the more severe complex III deficiency and GRACILE syndrome. We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L. A thorough clinical evaluation did not reveal any features consistent with complex III deficiency or GRACILE syndrome...
March 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28322432/bilateral-congenital-deafness-what-investigations-should-be-performed
#11
Nicolas Gürtler, Claudine Gysin, Nevenka Schmid, Claudia Pieren, Mattheus Vischer, Stefan Schumacher, Peter Oppermann, Daniel Leuba, Dorothée Veraguth
BACKGROUND: The introduction of newborn hearing screening has led to earlier identification of children with congenital sensorineural hearing loss (SNHL). Aetiological clarification offers several benefits. There is currently a lack of agreement on which examinations should be recommended. OBJECTIVE: Descriptive review of the literature reporting investigations performed to establish the aetiology of congenital SNHL and comparison of the management policy in Swiss referral centres...
March 21, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28320335/mitochondrial-mutations-in-maternally-inherited-hearing-loss
#12
Hideki Mutai, Takahisa Watabe, Kenjiro Kosaki, Kaoru Ogawa, Tatsuo Matsunaga
BACKGROUND: Although the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to be associated with SNHL. METHODS: Screening of m.1555A > G and m.3243A > G mutations was performed for 145 probands. Nine probands fulfilled the following criteria: 1) bilateral and symmetric SNHL, 2) ≥ 4 family members with SNHL with a maternal trait of inheritance in ≥ 2 generations, 3) onset of SNHL before the age of 40 years, 4) high-frequency SNHL, and 5) no record of environmental factors related to SNHL...
March 20, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28319495/endoscopic-stapes-surgery-a-comparison-with-microscopic-surgery
#13
Rhona Sproat, Constantina Yiannakis, Arunachalam Iyer
OBJECTIVE: To investigate postoperative audiological outcomes and complication rates for fully endoscopic and microscopic stapes surgery carried out by a single surgeon in one center. PATIENTS: All patients having undergone endoscopic and non-endoscopic stapes surgery for otosclerosis from September 2009 to August 2016 under a single surgeon. INTERVENTION(S): Stapedotomy using either an operating microscope or endoscope for visualization. Stapedotomy was carried out using a standard approach...
March 17, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28318405/the-association-between-age-related-hearing-impairment-and-metabolic-syndrome-in-korean-women-5-year-follow-up-observational-study
#14
Tae Su Kim, Eun Hui Kim, Jong Woo Chung
BACKGROUND: Although several observational studies showed a relationship between various conditions of metabolic syndrome (MetS) and hearing threshold, there are no studies about longitudinal audiometric results related MetS. The aim of this study was to investigate the association between MetS and age-related hearing impairment (ARHI) through a large, average 5-year longitudinal follow-up, clinical comparative analysis. MATERIALS AND METHODS: We recruited 1381 women older than 50 years who were enrolled in 2007 and reevaluated in 2012...
March 20, 2017: Metabolic Syndrome and related Disorders
https://www.readbyqxmd.com/read/28314420/sport-injuries-of-the-ear-and-temporal-bone
#15
REVIEW
L Mariel Osetinsky, Grant S Hamilton, Matthew L Carlson
In cases of head trauma, the ear should be evaluated in all of its components. A good understanding of otologic and skull base anatomy enables a thorough trauma assessment of this complex anatomic region. Auricular laceration, abrasion, avulsion, hematoma, frostbite, otitis externa, exostosis, tympanic membrane perforation, ossicular discontinuity, perilymphatic fistula, labyrinthine concussion, temporal bone fracture, facial nerve paresis, and sensorineural hearing loss are a few of the more common otologic injuries seen in active patients...
April 2017: Clinics in Sports Medicine
https://www.readbyqxmd.com/read/28306653/new-scoring-system-for-evaluating-patulous-eustachian-tube-patients
#16
Ryoukichi Ikeda, Toshiaki Kikuchi, Hidetoshi Oshima, Hiromitsu Miyazaki, Hiroshi Hidaka, Tetsuaki Kawase, Yukio Katori, Toshimitsu Kobayashi
OBJECTIVE: To assess the efficacy of patulous Eustachian tube handicap inventory (PHI) for patulous Eustachian tube (PET) patients. STUDY DESIGN: Prospective. SETTING: Tertiary referral center. SUBJECTS: A prospective survey of medical records in Sen-En Hospital identified 31 ears of 31 patients with definite PET who received insertion of the silicone plug as surgical treatment group, 29 ears of 29 patients treated with self-instillation of physiological saline solution as conservative treatment group, and 29 ears of 29 patients of sensorineural hearing loss without findings of PET treated between June 2015 and December 2015...
March 16, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28306650/cochlear-transcriptome-following-acoustic-trauma-and-dexamethasone-administration-identified-by-a-combination-of-rna-seq-and-dna-microarray
#17
Yukihide Maeda, Ryotaro Omichi, Akiko Sugaya, Shin Kariya, Kazunori Nishizaki
AIM: To elucidate molecular mechanisms of noise-induced hearing loss (NIHL) and glucocorticoid therapy in the cochlea. BACKGROUND: Glucocorticoids are used to treat many forms of acute sensorineural hearing loss, but their molecular action in the cochlea remains poorly understood. METHODS: Dexamethasone was administered intraperitoneally immediately following acoustic overstimulation at 120 dB SPL for 2 hours to mice. The whole cochlear transcriptome was analyzed 12 and 24 hours following noise trauma and dexamethasone administration by both next-generation sequencing (RNA-seq) and DNA microarray...
March 16, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28304075/steroid-intracochlear-distribution-differs-by-administration-method-systemic-versus-intratympanic-injection
#18
Jong Joo Lee, Jeong Hun Jang, Oak-Sung Choo, Hye Jin Lim, Yun-Hoon Choung
OBJECTIVE: Steroids have been widely used to treat inner-ear diseases such as sudden sensorineural hearing loss, tinnitus, and Meniere's disease. They can be given via either systemic or intratympanic (IT) injection. The purpose of the present study was to explore differences in intracochlear steroid distribution by the administration method employed (systemic vs. IT injection). STUDY DESIGN: Animal study. METHODS: Twenty-three Sprague-Dawley rats were given fluorescein isothiocyanate-labeled dexamethasone (FITC-DEX) three times (on successive days) via intraperitoneal (IP) or IT injection...
March 17, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28303854/clinical-auditory-phenotypes-associated-with-gata3-gene-mutations-in-familial-hypoparathyroidism-deafness-renal-dysplasia-syndrome
#19
Li Wang, Qiong-Fen Lin, Hong-Yang Wang, Jing Guan, Lan Lan, Lin-Yi Xie, Lan Yu, Ju Yang, Cui Zhao, Jin-Long Liang, Han-Lin Zhou, Huan-Ming Yang, Wen-Ping Xiong, Qiu-Jing Zhang, Da-Yong Wang, Qiu-Ju Wang
BACKGROUND: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. METHODS: Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations...
March 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28302454/craniofacial-fibrous-dysplasia-a-10-case-series
#20
A Couturier, O Aumaître, L Gilain, B Jean, T Mom, M André
OBJECTIVES: Fibrous dysplasia of bone is a rare sporadic benign congenital condition in which normal cancellous bone is replaced by fibro-osseous tissue with immature osteogenesis. Sarcomatous transformation is exceptional. Lesions may involve one bone (monostotic) or several (polyostotic). Fibrous dysplasia may be associated with café-au-lait skin macules and endocrinopathy in McCune-Albright syndrome, or with myxoma in Mazabraud's syndrome. METHODS: We report ten cases of patients followed up for craniofacial fibrous dysplasia in our center between 2010 and 2015...
March 14, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
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