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Sensorineural hearing loss

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https://www.readbyqxmd.com/read/28430993/a-multi-systemic-mitochondrial-disorder-due-to-a-dominant-p-y955h-disease-variant-in-dna-polymerase-gamma
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28417102/prognostic-factors-for-recovery-from-sudden-sensorineural-hearing-loss-a-retrospective-study
#14
Woo Seok Kang, Chan Joo Yang, Myungjoo Shim, Chan Il Song, Tae Su Kim, Hyun Woo Lim, Joong Ho Ahn, Hong Ju Park, Jong Woo Chung
BACKGROUND AND OBJECTIVES: This study aimed to investigate prognostic factors in patients with idiopathic sudden sensorineural hearing loss (ISSNHL). SUBJECTS AND METHODS: From January 2007 to December 2011, a retrospective chart review identified 494 consecutive patients with ISSNHL. Demographic, audiometric, and clinical data were analyzed using a logistic regression test. RESULTS: Hearing recovery from ISSNHL was significantly associated with factors such as age, duration from onset of symptoms to commencement of treatment, severity of the initial pure tone threshold, and the treatment method...
April 2017: Journal of Audiology & Otology
https://www.readbyqxmd.com/read/28416012/congenital-cytomegalovirus-infection-advances-and-challenges-in-diagnosis-prevention-and-treatment
#15
REVIEW
Concetta Marsico, David W Kimberlin
Cytomegalovirus (CMV) is the most frequent cause of congenital infection worldwide, with an estimated incidence in developing countries of 0.6-0.7% of all live births. The burden of disease related to congenital CMV in substantial, as it is the leading non-genetic cause of sensorineural hearing loss and an important cause of neurodevelopmental disabilities in children. Despite its clinical significance, congenital CMV infection often goes undetected because the majority of infected infants are asymptomatic at birth and screening programs have not been substantially implemented...
April 17, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28415914/sealing-of-the-round-and-oval-window-niches-with-triamcinolone-soaked-fascia-as-salvage-surgical-therapy-in-sudden-sensorineural-hearing-loss
#16
Benjamin Loader, Rudolf Seemann, Claudia Atteneder, Elisabeth Sterrer, Peter Franz, Claudia Lill
CONCLUSIONS: Triamcinolone-soaked fascia seems to show better hearing improvement when added to tympanotomy for sudden idiopathic sensorineural hearing loss (SSHL), compared to fascia round window occlusion without triamcinolone. OBJECTIVES: To analyse if adding triamcinolone to sealing the round and oval window niches with fascia results in improved audiological outcome for acute SNHL. METHODS: Fifty-three patients (27m:43 ± 12 years, 26f:45 ± 14 years) with acute SSHL ≥50dB over 3 frequencies, who failed primary therapy, underwent transcanal tympanotomy...
April 18, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28414276/studying-the-association-between-sudden-hearing-loss-and-dna-n-methyltransferase-1-dnmt1-genetic-polymorphism
#17
Kübra Şeker Yıldız, Kasım Durmuş, Gonca Dönmez, Serdal Arslan, Emine Elif Altuntaş
OBJECTIVE: The aim of the present study was to investigate whether there was any relationship between some DNA N-methyltransferase 1 (DNMT1) polymorphisms and susceptibility to idiopathic sudden sensorineural hearing loss (ISSHL) in ISSHL patients. MATERIAL AND METHODS: We investigated 90 patients diagnosed with ISSHL and a control group composed of 75 age- and gender-matched healthy individuals. DNA was extracted from the blood samples by phenol-chloroform method...
April 17, 2017: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/28412992/acute-otitis-media-associated-bilateral-sudden-hearing-loss-case-report-and-literature-review
#18
A Smith, I Gutteridge, D Elliott, M Cronin
BACKGROUND: Sudden sensorineural hearing loss is a rare otological condition with potential for dire outcomes including permanent hearing loss. Although the majority of cases are deemed idiopathic, bilateral sudden sensorineural hearing loss represents a rare subset typically related to systemic conditions, with higher morbidity and mortality. A controversial association with acute otitis media has been reported, with few bilateral cases published in the literature. CASE REPORT: A very rare case of bilateral sudden sensorineural hearing loss associated with acute otitis media is described, with a review of the literature...
April 17, 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28409910/pathogenicity-of-two-coq7-mutations-and-responses-to-2-4-dihydroxybenzoate-bypass-treatment
#19
Ying Wang, Christopher Smith, Jillian S Parboosingh, Aneal Khan, Micheil Innes, Siegfried Hekimi
Primary ubiquinone (co-enzyme Q) deficiency results in a wide range of clinical features due to mitochondrial dysfunction. Here, we analyse and characterize two mutations in the ubiquinone biosynthetic gene COQ7. One mutation from the only previously identified patient (V141E), and one (L111P) from a 6-year-old girl who presents with spasticity and bilateral sensorineural hearing loss. We used patient fibroblast cell lines and a heterologous expression system to show that both mutations lead to loss of protein stability and decreased levels of ubiquinone that correlate with the severity of mitochondrial dysfunction...
April 13, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28407310/totally-implantable-hearing-system-five-year-hearing-results
#20
Jack A Shohet, Eric M Kraus, Peter J Catalano, Elizabeth Toh
OBJECTIVES/HYPOTHESIS: 1) To provide long-term hearing outcome measures of a totally implantable hearing system (implant) and compare to the baseline unaided (BLU) and baseline aided (BLA) conditions, and 2) discuss relevant safety measures. STUDY DESIGN: Prospective, nonrandomized, multicenter, single-subject-as-own-control design. METHODS: Fifty-one subjects with mild to severe sensorineural hearing loss were implanted between 2008 and 2009 and enrolled in this postmarket approval study in the setting of private and hospital-based practices...
April 13, 2017: Laryngoscope
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