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https://www.readbyqxmd.com/read/29050102/-research-progress-on-the-etiology-of-delayed-onset-hearing-loss-in-children
#1
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/28967629/mutations-in-aifm1-cause-an-x-linked-childhood-cerebellar-ataxia-partially-responsive-to-riboflavin
#2
G Heimer, E Eyal, X Zhu, E K Ruzzo, D Marek-Yagel, Doron Sagiv, Y Anikster, H Reznik-Wolf, E Pras, D Oz Levi, D Lancet, B Ben-Zeev, A Nissenkorn
BACKGROUND: AIFM1 encodes a mitochondrial flavoprotein with a dual role (NADH oxidoreductase and regulator of apoptosis), which uses riboflavin as a cofactor. Mutations in the X-linked AIFM1 were reported in relation to two main phenotypes: a severe infantile mitochondrial encephalomyopathy and an early-onset axonal sensorimotor neuropathy with hearing loss. In this paper we report two unrelated males harboring AIFM1 mutations (one of which is novel) who display distinct phenotypes including progressive ataxia which partially improved with riboflavin treatment...
September 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28965846/fdxr-mutations-cause-sensorial-neuropathies-and-expand-the-spectrum-of-mitochondrial-fe-s-synthesis-diseases
#3
Antoine Paul, Anthony Drecourt, Floriane Petit, Delphine Dupin Deguine, Christelle Vasnier, Myriam Oufadem, Cécile Masson, Crystel Bonnet, Saber Masmoudi, Isabelle Mosnier, Laurence Mahieu, Didier Bouccara, Josseline Kaplan, Georges Challe, Christelle Domange, Fanny Mochel, Olivier Sterkers, Sylvie Gerber, Patrick Nitschke, Christine Bole-Feysot, Laurence Jonard, Souad Gherbi, Oriane Mercati, Ines Ben Aissa, Stanislas Lyonnet, Agnès Rötig, Agnès Delahodde, Sandrine Marlin
Hearing loss and visual impairment in childhood have mostly genetic origins, some of them being related to sensorial neuronal defects. Here, we report on eight subjects from four independent families affected by auditory neuropathy and optic atrophy. Whole-exome sequencing revealed biallelic mutations in FDXR in affected subjects of each family. FDXR encodes the mitochondrial ferredoxin reductase, the sole human ferredoxin reductase implicated in the biosynthesis of iron-sulfur clusters (ISCs) and in heme formation...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28954873/chronic-auditory-toxicity-in-late-preterm-and-term-infants-with-significant-hyperbilirubinemia
#4
MULTICENTER STUDY
Sanjiv B Amin, Satish Saluja, Arvind Saili, Mark Orlando, Hongyue Wang, Nirupama Laroia, Asha Agarwal
BACKGROUND AND OBJECTIVES: Significant hyperbilirubinemia (SHB) may cause chronic auditory toxicity (auditory neuropathy spectrum disorder and/or sensorineural hearing loss); however, total serum bilirubin (TSB) does not discriminate neonates at risk for auditory toxicity. Our objective was to compare TSB, bilirubin albumin molar ratio (BAMR), and unbound bilirubin (UB) for their association with chronic auditory toxicity in neonates with SHB (TSB ≥20 mg/dL or TSB that met criteria for exchange transfusion)...
October 2017: Pediatrics
https://www.readbyqxmd.com/read/28923561/update-on-the-safety-of-phosphodiesterase-type-5-inhibitors-for-the-treatment-of-erectile-dysfunction
#5
REVIEW
Faysal A Yafi, Ira D Sharlip, Edgardo F Becher
INTRODUCTION: Phosphodiesterase type 5 inhibitors (PDE5Is) have demonstrated efficacy in the treatment of erectile dysfunction (ED). Although historically found to have limited drug-related adverse events, emerging data have suggested that PDE5Is might be associated with melanoma or recurrence of prostate cancer after radical prostatectomy. AIM: To summarize the literature on the safety of PDE5Is. METHODS: A literature review was performed through PubMed from 1990 through 2016 regarding ED...
September 8, 2017: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/28887803/psychosis-in-spinocerebellar-ataxias-a-case-series-and-study-of-tyrosine-hydroxylase-in-substantia-nigra
#6
Katherine W Turk, Margaret E Flanagan, Samuel Josephson, C Dirk Keene, Suman Jayadev, Thomas D Bird
Spinocerebellar ataxias are a genetically heterogeneous group of degenerative diseases typically characterized by progressive ataxia and to various degrees, neuropathy, amyotrophy, and ocular abnormalities. There is increasing evidence for non-motor manifestations associated with cerebellar syndromes including cognitive and psychiatric features. We studied a retrospective clinical case series of eight subjects with spinocerebellar ataxias (SCAs) 2, 3, 7, and 17, all displaying features of psychosis, and also measured tyrosine hydroxylase (TH) staining of the substantia nigra (SN) at autopsy, among four of the subjects...
September 8, 2017: Cerebellum
https://www.readbyqxmd.com/read/28826715/predictive-factors-of-unfavorable-events-after-gamma-knife-radiosurgery-for-vestibular-schwannoma
#7
Ji Hee Kim, Hyun Ho Jung, Jong Hee Chang, Jin Woo Chang, Yong Gou Park, Won Seok Chang
OBJECTIVE: Gamma Knife radiosurgery (GKS) for the treatment of vestibular schwannoma (VS) introduces risks to the facial nerve and auditory perception and may involve post-treatment complications such as pseudoprogression, hydrocephalus, and other cranial neuropathies. This study of patients with VS who underwent GKS investigated radiosurgical results, focusing on post-treatment complications and identifying the factors that predict such complications. METHODS: We undertook a retrospective review of all VS patients treated with the Perfexion Leksell Gamma Knife between November 2007 and October 2010 at our institution...
November 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28816694/evaluation-of-hearing-handicap-in-adults-with-auditory-neuropathy-spectrum-disorder
#8
Prashanth Prabhu
OBJECTIVE: The present study attempted to evaluate hearing handicap in adults with auditory neuropathy spectrum disorder (ANSD). The study also attempted to determine if gender, pure tone average, speech identification scores (SIS), and reported duration of hearing loss could predict the hearing handicap in adults with ANSD. MATERIALS AND METHODS: Hearing Handicap Inventory for Adults and Hearing Handicap Questionnaire were administered to 50 adults with ANSD. RESULTS: Using both the scales, there was a significant hearing handicap in both the social and emotional domains in adults with ANSD...
August 2017: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/28816204/deep-band-modulated-phrase-perception-in-quiet-and-noise-in-individuals-with-auditory-neuropathy-spectrum-disorder-and-sensorineural-hearing-loss
#9
Hemanth Narayan Shetty, Vishal Kooknoor
CONTEXT: Deep band modulation (DBM) improves speech perception in individuals with learning disability and older adults, who had temporal impairment in them. However, it is unclear on perception of DBM phrases at quiet and noise conditions in individuals with auditory neuropathy spectrum disorder (ANSD) and sensorineural hearing loss (SNHL), as these individuals suffer from temporal impairment. AIM: The aim is to study the effect of DBM and noise on phrase perception in individuals with normal hearing, SNHL, and ANSD...
July 2017: Noise & Health
https://www.readbyqxmd.com/read/28794847/neuro-otological-and-peripheral-nerve-involvement-in-fabry-disease
#10
Sergio Carmona, Romina Weinschelbaum, Ana Pardal, Cintia Marchesoni, Paz Zuberbuhler, Patricia Acosta, Guillermo Cáceres, Isaac Kisinovsky, Luciana Bayón, Ricardo Reisin
Fabry disease (FD) is an X-linked lysosomal storage disease, with multisystemic glycosphingolipids deposits. Neuro-otological involvement leading to hearing loss and vestibular dysfunctions has been described, but there is limited information about the frequency, site of lesion, or the relationship with peripheral neuropathy. The aim was to evaluate the presence of auditory and vestibular symptoms, and assess neurophysiological involvement of the VIII cranial nerve, correlating these findings with clinical and neurophysiological features of peripheral neuropathy...
July 18, 2017: Audiology Research
https://www.readbyqxmd.com/read/28769753/intraoperative-electrocochleographic-characteristics-of-auditory-neuropathy-spectrum-disorder-in-cochlear-implant-subjects
#11
William J Riggs, Joseph P Roche, Christopher K Giardina, Michael S Harris, Zachary J Bastian, Tatyana E Fontenot, Craig A Buchman, Kevin D Brown, Oliver F Adunka, Douglas C Fitzpatrick
Auditory neuropathy spectrum disorder (ANSD) is characterized by an apparent discrepancy between measures of cochlear and neural function based on auditory brainstem response (ABR) testing. Clinical indicators of ANSD are a present cochlear microphonic (CM) with small or absent wave V. Many identified ANSD patients have speech impairment severe enough that cochlear implantation (CI) is indicated. To better understand the cochleae identified with ANSD that lead to a CI, we performed intraoperative round window electrocochleography (ECochG) to tone bursts in children (n = 167) and adults (n = 163)...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28766844/timing-of-cochlear-implantation-in-auditory-neuropathy-patients-with-otof-mutations-our-experience-with-10-patients
#12
C C Wu, C J Hsu, F L Huang, Y H Lin, Y H Lin, T C Liu, C M Wu
No abstract text is available yet for this article.
August 2, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28743950/auditory-neuropathy-after-damage-to-cochlear-spiral-ganglion-neurons-in-mice-resulting-from-conditional-expression-of-diphtheria-toxin-receptors
#13
Haolai Pan, Qiang Song, Yanyan Huang, Jiping Wang, Renjie Chai, Shankai Yin, Jian Wang
Auditory neuropathy (AN) is a hearing disorder characterized by normal cochlear amplification to sound but poor temporal processing and auditory perception in noisy backgrounds. These deficits likely result from impairments in auditory neural synchrony; such dyssynchrony of the neural responses has been linked to demyelination of auditory nerve fibers. However, no appropriate animal models are currently available that mimic this pathology. In this study, Cre-inducible diphtheria toxin receptor (iDTR (+/+) ) mice were cross-mated with mice containing Cre (Bhlhb5-Cre (+/-) ) specific to spiral ganglion neurons (SGNs)...
July 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28731162/a-homozygous-myo7a-mutation-associated-to-usher-syndrome-and-unilateral-auditory-neuropathy-spectrum-disorder
#14
Hong Xia, Pengzhi Hu, Lamei Yuan, Wei Xiong, Hongbo Xu, Junhui Yi, Zhijian Yang, Xiong Deng, Yi Guo, Hao Deng
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing...
October 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28708635/the-management-of-pediatric-hearing-loss-caused-by-auditory-neuropathy-spectrum-disorder
#15
Nguyen S Pham
PURPOSE OF REVIEW: Auditory neuropathy spectrum disorder (ANSD) is a condition in which auditory testing reveals normal otoacoustic emissions, but auditory brainstem testing is abnormal or absent and speech discrimination is poor. This constellation of findings ostensibly suggests that the cochlea is healthy and an abnormality of conduction or processing of sound occurs along the nerve fibers. As more is learned about this condition, it is becoming clear that ANSD describes heterogeneous, distinct clinical entities that must be taken into account when devising treatment modalities...
July 13, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28704898/a-case-of-auditory-neuropathy-caused-by-pontine-hemorrhage-in-an-adult
#16
Seung-Hyun Chung, Sung Wook Jeong, Lee-Suk Kim
A pontine hemorrhage can evoke several neurological symptoms because the pons contains various nuclei and nerve fibers. Hearing loss can develop as a result of a pontine hemorrhage because there is an auditory conduction pathway in the cochlear nucleus of the pons. However, very few cases of hearing loss caused by pontine lesions have been reported, and there have been no reports of auditory neuropathy that developed following a pontine hemorrhage. Recently we had a patient who experienced a nontraumatic pontine hemorrhage who was diagnosed with auditory neuropathy...
July 2017: Journal of Audiology & Otology
https://www.readbyqxmd.com/read/28688553/clinical-role-of-electrocochleography-in-children-with-auditory-neuropathy-spectrum-disorder
#17
Tatyana E Fontenot, Christopher K Giardina, Holly F Teagle, Lisa R Park, Oliver F Adunka, Craig A Buchman, Kevin D Brown, Douglas C Fitzpatrick
OBJECTIVES: To assess electrocochleography (ECochG) to tones as an instrument to account for CI speech perception outcomes in children with auditory neuropathy spectrum disorder (ANSD). MATERIALS & METHODS: Children (<18 years) receiving CIs for ANSD (n = 30) and non-ANSD (n = 74) etiologies of hearing loss were evaluated with ECochG using tone bursts (0.25-4 kHz). The total response (TR) is the sum of spectral peaks of responses across frequencies. The compound action potential (CAP) and the auditory nerve neurophonic (ANN) in ECochG waveforms were used to estimate nerve activity and calculate nerve score...
August 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28687782/human-cochlear-histopathology-reflects-clinical-signatures-of-primary-neural-degeneration
#18
Jessica E Sagers, Lukas D Landegger, Steven Worthington, Joseph B Nadol, Konstantina M Stankovic
Auditory neuropathy is a significant and understudied cause of human hearing loss, diagnosed in patients who demonstrate abnormal function of the cochlear nerve despite typical function of sensory cells. Because the human inner ear cannot be visualized during life, histopathological analysis of autopsy specimens is critical to understanding the cellular mechanisms underlying this pathology. Here we present statistical models of severe primary neuronal degeneration and its relationship to pure tone audiometric thresholds and word recognition scores in comparison to age-matched control patients, spanning every decade of life...
July 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28680492/effectiveness-of-low-cut-modified-amplification-using-receiver-in-the-canal-hearing-aid-in-individuals-with-auditory-neuropathy-spectrum-disorder
#19
Prashanth Prabhu, Animesh Barman
Introduction  The studies on hearing aid benefit in individuals with auditory neuropathy spectrum disorder (ANSD) shows limited benefit. Low cut modified amplification is found to be effective in few individuals with ANSD. With advancement in technology, receiver in the canal (RIC) hearing aids have proven to be more effective than traditional behind the ear (BTE) hearing aids. Objective  Thus, the present study attempts to determine the effectiveness of low cut modified amplification using RIC and BTE...
July 2017: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/28601886/auna2-a-novel-type-of-non-syndromic-slowly-progressive-auditory-synaptopathy-auditory-neuropathy-with-autosomal-dominant-inheritance
#20
Ruth Lang-Roth, Eva Fischer-Krall, Cornelia Kornblum, Gudrun Nürnberg, Dieter Meschede, Ingrid Goebel, Peter Nürnberg, Dirk Beutner, Christian Kubisch, Martin Walger, Alexander E Volk
BACKGROUND: Auditory synaptopathy/neuropathy (AS/AN) is a heterogeneous disorder, which may be caused by environmental factors like postnatal hyperbilirubinemia or by genetic factors. The genetic forms are subdivided into syndromic and non-syndromic types, and show different inheritance patterns with a strong preponderance of autosomal-recessive forms. To date, only a single locus for non-syndromic autosomal-dominant AS/AN (AUNA1) has been reported in a single family, in which a non-coding DIAPH3 mutation was subsequently described as causative...
2017: Audiology & Neuro-otology
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