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https://www.readbyqxmd.com/read/28449065/a-homozygous-missense-mutation-in-eral1-encoding-a-mitochondrial-rrna-chaperone-causes-perrault-syndrome
#1
Iliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, Ruben Zapata Perez, Martin A Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R Waterham, Johannes N Spelbrink, Johan Auwerx, Marcel M Mannens, Riekelt H Houtkooper, Astrid S Plomp
Perrault syndrome (PS) is a rare recessive disorder characterized by ovarian dysgenesis and sensorineural deafness. It is clinically and genetically heterogeneous, and previously mutations have been described in different genes, mostly related to mitochondrial proteostasis. We diagnosed three unrelated females with PS and set out to identify the underlying genetic cause using exome sequencing. We excluded mutations in the known PS genes, but identified a single homozygous mutation in the ERAL1 gene (c.707A>T; p...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28442812/ramsay-hunt-syndrome-in-a-patient-with-human-immunodeficiency-virus-infection
#2
Mrinal Gupta
Ramsay Hunt syndrome (RHS) is a rare, severe complication of varicella-zoster virus reactivation in the geniculate ganglion, characterized by hearing loss, pain, and vesicles in the ear or mouth along with ipsilateral facial palsy. Although it is rare, it is more commonly found with immunodeficiency conditions. We report a case of a 35-year-old human immunodeficiency virus positive male, having CD4+ count of 336/μl, who presented with RHS and had vertigo, painful vesicular eruptions on the right ear and unilateral sensorineural hearing loss...
January 2017: Indian Journal of Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/28442169/cochlear-implantation-in-children-with-anomalous-cochleovestibular-anatomy
#3
REVIEW
Ana Sofia Melo, Jorge Martins, João Silva, Jorge Quadros, António Paiva
OBJECTIVE: The aim of the study is to assess the audiological and surgical outcome after cochlear implantation in children with inner ear malformation and to compare them with a group of congenitally deaf children implantees without inner ear malformation. INTRODUCTION: Children with profound sensorineural deafness with malformations of the inner ear represent a challenge, accounting to 5-15% of congenital sensorineural deafness. These cases were originally regarded as a contraindication for cochlear implant surgery...
April 22, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28441230/cochlear-implantation-in-adults-with-asymmetric-hearing-loss-benefits-of-bimodal-stimulation
#4
Maarten Caspar van Loon, Cas Smits, Conrad F Smit, Erik F Hensen, Paul Merkus
OBJECTIVE: This study addresses the outcome of cochlear implantation in addition to hearing aid use in patients with asymmetric sensorineural hearing loss. STUDY DESIGN: Prospective longitudinal study. SETTING: Tertiary referral center. PATIENTS: Seven adults with asymmetric sensorineural hearing loss, i.e., less than 30% aided speech recognition in their worst hearing ear and 60 to 85% speech recognition in their best hearing ear...
April 24, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28439223/outer-hair-cell-and-auditory-nerve-function-in-speech-recognition-in-quiet-and-in-background-noise
#5
Richard Hoben, Gifty Easow, Sofia Pevzner, Mark A Parker
The goal of this study was to describe the contribution of outer hair cells (OHCs) and the auditory nerve (AN) to speech understanding in quiet and in the presence of background noise. Fifty-three human subjects with hearing ranging from normal to moderate sensorineural hearing loss were assayed for both speech in quiet (Word Recognition) and speech in noise (QuickSIN test) performance. Their scores were correlated with OHC function as assessed via distortion product otoacoustic emissions, and AN function as measured by amplitude, latency, and threshold of the VIIIth cranial nerve Compound Action Potential (CAP) recorded during electrocochleography (ECochG)...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28437273/assessing-sensorineural-hearing-loss-using-various-transient-evoked-otoacoustic-emission-stimulus-conditions
#6
Daniel B Putterman, Douglas H Keefe, Lisa L Hunter, Angela C Garinis, Denis F Fitzpatrick, Garnett P McMillan, M Patrick Feeney
OBJECTIVES: An important clinical application of transient-evoked otoacoustic emissions (TEOAEs) is to evaluate cochlear outer hair cell function for the purpose of detecting sensorineural hearing loss (SNHL). Double-evoked TEOAEs were measured using a chirp stimulus, in which the stimuli had an extended frequency range compared to clinical tests. The present study compared TEOAEs recorded using an unweighted stimulus presented at either ambient pressure or tympanometric peak pressure (TPP) in the ear canal and TEOAEs recorded using a power-weighted stimulus at ambient pressure...
April 21, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28431256/neurodevelopmental-outcomes-of-neonates-undergoing-surgery-under-general-anesthesia-for-malrotation-of-intestines
#7
Suresh Birajdar, Shripada Rao, Judy McMichael
BACKGROUND: It is difficult to differentiate between the potential adverse effects of general anesthesia (GA) on the developing brain and the role of associated co-morbidities and syndromes that can adversely affect neurodevelopmental outcomes in neonates undergoing GA. Neonates with malrotation of the intestines without volvulus usually do not have co-morbidities or syndromes. In addition, majority of them recover very well after surgery and are discharged home within a few days. Neonates with malrotation are a clean cohort of babies to study the role of a single episode of GA on the developing brain...
April 18, 2017: Early Human Development
https://www.readbyqxmd.com/read/28430993/a-multi-systemic-mitochondrial-disorder-due-to-a-dominant-p-y955h-disease-variant-in-dna-polymerase-gamma
#8
Triinu Siibak, Paula Clemente, Ana Bratic, Helene Bruhn, Timo E S Kauppila, Bertil Macao, Florian A Schober, Nicole Lesko, Rolf Wibom, Karin Naess, Inger Nennesmo, Anna Wedell, Bradley Peter, Christoph Freyer, Maria Falkenberg, Anna Wredenberg
Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical presentations, ranging from early onset fatal brain disease in Alpers syndrome to chronic progressive external ophthalmoplegia. The majority of mutations are linked with disturbances of mitochondrial DNA (mtDNA) integrity and maintenance. On a molecular level, depending on their location within the enzyme, mutations either lead to mtDNA depletion or the accumulation of multiple mtDNA deletions, and in some cases these molecular changes can be correlated to the clinical presentation...
April 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28428247/induction-of-cell-death-and-gain-of-function-properties-of-connexin26-mutants-predict-severity-of-skin-disorders-and-hearing-loss
#9
Eric R Press, Qing Shao, John J Kelly, Katrina Chin, Anton Alaga, Dale W Laird
Connexin26 (Cx26) is a gap junction protein that oligomerizes in the cell to form hexameric transmembrane channels called connexons. Cell surface connexons dock between adjacent cells to allow for gap junctional intercellular communication. Numerous autosomal dominant mutations in the Cx26 encoding GJB2 gene lead to many skin disorders and sensorineural hearing loss. Although some insights have been gained into the pathogenesis of these diseases, it is not fully understood how distinct GJB2 mutations result in hearing loss alone or in skin pathologies with comorbid hearing loss...
April 20, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28428227/mechanisms-in-endocrinology-the-multiple-facets-of-gh-lessons-from-lifetime-untreated-isolated-gh-deficiency-due-to-ghrh-receptor-mutation
#10
Manuel Aguiar-Oliveira, Anita Ho Souza, Carla R Oliveira, Viviane C Campos, Luiz A Oliveira-Neto, Roberto Salvatori
Twenty years ago, we described a kindred of 105 individuals with isolated GH deficiency (IGHD) in Itabaianinha County, in Brazilian northeast, due to a homozygous mutation in the GH-releasing hormone receptor gene. These subjects exhibit markedly reduced GH responsiveness to stimulatory tests, and anterior pituitary hypoplasia. Serum concentrations of IGF-I, IGF binding protein type 3, and the acid-labile subunit are markedly reduced, with a lesser reduction of IGF-II. The most striking physical findings of these IGHD individuals are the proportionate short stature, doll facies, high-pitched voice, and visceral obesity with reduced fat free mass...
April 20, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28426234/the-otogl-p-arg925-variant-is-associated-with-moderate-hearing-loss-in-a-syrian-nonconsanguineous-family
#11
Rana Barake, Samer Abou-Rizk, Georges Nemer, Marc Bassim
AIMS: To screen for the genetic basis of congenital hearing loss in a Syrian family. METHODS: A Syrian patient living in Lebanon presented with moderate congenital hearing loss. The patient's large nonconsanguineous family was recruited. DNA was extracted from blood samples and sent for whole-exome sequencing. A detailed clinical examination along with audiograms was obtained for all subjects. RESULTS: Hearing loss was noted to be mild to moderate in the low and mid frequencies, sloping to moderate to severe in the high frequencies for all affected members...
April 20, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28424585/efr3a-insufficiency-attenuates-the-degeneration-of-spiral-ganglion-neurons-after-hair-cell-loss
#12
Haixia Hu, Bin Ye, Le Zhang, Quan Wang, Zhiwei Liu, Suying Ji, Qiuju Liu, Jingrong Lv, Yan Ma, Ying Xu, Hao Wu, Fude Huang, Mingliang Xiang
Sensorineural hearing loss (SNHL) is caused by an irreversible impairment of cochlear hair cells and subsequent progressive degeneration of spiral ganglion neurons (SGNs). Eighty-five requiring 3 (Efr3) is a plasma membrane protein conserved from yeast to human, and knockout of Efr3a was reported to facilitate the survival of hippocampal newborn neurons in adult mice. Previously, we found Efr3a expression in the auditory neural pathway is upregulated soon after the destruction of hair cells. Here we conducted a time-course analysis of drug-caused damage to hearing ability, hair cells and SGNs in Efr3a knocking down mice (Efr3a(-/+), Efr3a KD) and their wild type littermates...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28423374/hyperbaric-oxygen-therapy-as-adjuvant-treatment-for-idiopathic-sudden-sensorineural-hearing-loss-after-failure-of-systemic-steroids
#13
Seiji Hosokawa, Ken-Ichi Sugiyama, Goro Takahashi, Yu-Ichi Hashimoto, Kumiko Hosokawa, Satoru Takebayashi, Hiroyuki Mineta
We evaluated the outcomes of and prognostic factors for idiopathic sudden sensorineural hearing loss (ISSNHL) treated with adjuvant hyperbaric oxygen therapy (HBOT). A retrospective review of clinical data was performed for 167 patients with ISSNHL who failed to respond to systemic steroids and were treated by adjuvant HBOT at Shizuoka Saiseikai General Hospital. We analysed the clinical outcomes, the averaged 5-frequency hearing level after systemic steroids, patient age, the interval between post-steroids and pre-HBOT, vertigo as a complication, the presence of diabetes mellitus, smoking history, and hypertension...
April 20, 2017: Audiology & Neuro-otology
https://www.readbyqxmd.com/read/28420278/audiometric-features-in-young-adults-with-turner-syndrome
#14
Åsa Bonnard, Christina Hederstierna, Rusana Bark, Malou Hultcrantz
OBJECTIVE: Hearing loss (HL) is a known problem in adults with Turner syndrome (TS). The aim of this study was to investigate audiometric features in young adults with TS and the extent of hearing aid provision. DESIGN: Patients were recruited from the Turner centre at Karolinska University Hospital. Analysis of audiograms was made in relation to hearing aid use, a Swedish normal hearing cohort and the need for hearing rehabilitation. STUDY SAMPLE: Sixty-four women with TS aged 25-38 years at the time of their audiological testing...
April 19, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28420277/device-optimised-chirp-stimulus-for-abr-measurements-with-an-active-middle-ear-implant
#15
Mario Cebulla, Ute Geiger, Rudolf Hagen, Andreas Radeloff
OBJECTIVE: Active middle ear implants are widely used to treat adults and children with sensorineural, conductive, or mixed hearing loss. Currently, there is no adequate method to determine the performance of active middle ear implant systems. DESIGN: The proposed method is based on measuring the auditory brainstem response while stimulating the hearing system via the active middle ear implant (Vibrant Soundbridge(TM), VSB; MEDEL, Austria). The acoustic stimulation was achieved via an optimised chirp stimulus (CE-Chirp), implemented in the Eclipse system (Interacoustics, Denmark)...
April 19, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28417110/kawasaki-disease-and-labyrinthitis-an-underdiagnosed-complication
#16
Kyu Yeun Kim, Ki Hwan Kim, Yoon Ah Park, Young Joon Seo
Sensorineural hearing loss (SNHL) that is seldom cited as a Kawasaki disease (KD) complication is known as an additional, potentially severe, and frequently irreversible sequel. Furthermore the vestibular functions of KD have been underestimated and it could be an important complication combined with SNHL in KD. We described a case that a 4 year-old boy who developed vestibular loss with SNHL has recovered successfully with a combined treatment.
April 2017: Journal of Audiology & Otology
https://www.readbyqxmd.com/read/28417109/intractable-methicillin-resistant-staphylococcus-aureus-otorrhea-with-silicone-impression-in-the-middle-ear
#17
Eun Kyung Jung, Chul Ho Jang, Jong Yuap Seong, Yong Beom Cho
We report a case of methicillin-resistant Staphylococcus aureus (MRSA) otorrhea with impression material of hearing aid in the middle ear. The patient had chronic otitis media in the right ear with sensorineural hearing loss in both ears. The silicone flowed into the middle ear through a tympanic membrane perforation during the process of making an ear mold. Several days after hearing aid fitting, the patient had severe otalgia, intractable otorrhea, aggravated hearing loss, and dizziness. The pus culture and sensitivity test revealed MRSA...
April 2017: Journal of Audiology & Otology
https://www.readbyqxmd.com/read/28417108/factors-prognostic-of-season-associated-sudden-sensorineural-hearing-loss-a-retrospective-observational-study
#18
In Yong Ryu, Sang Hyun Park, Eun Bin Park, Ho Joong Kim, Sang Hoon Kim, Seung Geun Yeo
BACKGROUND AND OBJECTIVES: This study examined whether the prognosis of sudden deafness was dependent on the time of onset and evaluated the factors affecting prognosis during each period. SUBJECTS AND METHODS: Patients who developed sudden hearing loss from January 2005 to December 2015 were evaluated retrospectively. Meteorological data were obtained from the official website of the Korea Meteorological Administration. Factors prognostic of hearing recovery rate were analyzed...
April 2017: Journal of Audiology & Otology
https://www.readbyqxmd.com/read/28417106/comparative-analysis-of-the-combined-therapeutic-effects-of-lipoprostaglandin-e1-on-sudden-idiopathic-sensorineural-hearing-loss
#19
Haeng Seon Shim, Joon Soo Kim, Myung Gu Kim
BACKGROUND AND OBJECTIVES: Viral and vascular disorders are considered to be a major cause of idiopathic sudden sensorineural hearing loss (ISSNHL). Lipoprostaglandin E1 (lipo-PGE1) has vasodilating activity and has been used to treat ISSNHL. The purpose of this study was to determine the specific therapeutic effects of lipo-PGE1 and compare them to other treatment modalities for ISSNHL. SUBJECTS AND METHODS: The study group had 1,052 patients diagnosed with ISSNHL...
April 2017: Journal of Audiology & Otology
https://www.readbyqxmd.com/read/28417105/substitution-patterns-of-phoneme-errors-in-hearing-aid-and-cochlear-implant-users
#20
Woojae Han, Hyungi Chun, Gibbeum Kim, In-Ki Jin
BACKGROUND AND OBJECTIVES: It is acknowledged that speech perceptual errors are increased in listeners who have sensorineural hearing loss as noise increases. However, there is a lack of detailed information for their error pattern. The purpose of the present study was to analyze substitution patterns of phoneme errors in Korean hearing aid (HA) and cochlear implant (CI) users who are postlingually deafened adults. SUBJECTS AND METHODS: In quiet and under two noise conditions, the phoneme errors of twenty HA and fourteen CI users were measured by using monosyllabic words, and a substitution pattern was analyzed in terms of manner of articulation...
April 2017: Journal of Audiology & Otology
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