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Progressive hearing loss

Xiaohui Duan, Weihong Gu, Ying Hao, Renbin Wang, Hong Wen, Shaojie Sun, Jinsong Jiao, Dongsheng Fan
Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves. Mutations in MPZ have been associated with different Charcot-Marie-Tooth disease (CMT) phenotypes (CMT1B, CMT2I/J, CMTDI), Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. Here, we report phenotypic variability in a four-generation Chinese family with the MPZ mutation Asp121Asn. Genetic testing was performed on nine family members and 200 controls. Clinical, electrophysiological and skeletal muscle MRI assessments were available for review in six family members...
2016: Frontiers in Aging Neuroscience
Reuven Ishai, Christopher F Halpin, Jennifer J Shin, Michael J McKenna, Alicia M Quesnel
OBJECTIVES: 1) To evaluate the long-term incidence and degree of the sensorineural component of hearing loss (SNHL) in patients with otosclerosis after accounting for expected age-related hearing loss. 2) To identify variables that might predict development of sensorineural hearing loss due to otosclerosis. STUDY DESIGN: Retrospective audiometric database and chart review. SETTING: Tertiary referral center. PATIENTS: Consecutive patients with otosclerosis observed between 1994 and 2004, with ≥10 years follow-up, excluding patients with postoperative hearing loss or surgery before the initial audiogram...
October 12, 2016: Otology & Neurotology
Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
Yuka Morita, Kuniyuki Takahashi, Shuji Izumi, Yamato Kubota, Shinsuke Ohshima, Arata Horii
OBJECTIVE: Otitis media (OM) with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (OMAAV) is a novel concept of ear disease that is characterized by progressive mixed or sensorineural hearing loss with occasional systemic involvement. Considering the accumulating knowledge about the characteristics of and treatment for auditory dysfunction in OMAAV, the objective of this study was to investigate the vestibular function and symptoms of patients with OMAAV. STUDY DESIGN: Retrospective chart review...
September 30, 2016: Otology & Neurotology
Yi Zhang, Bo Liu, Rui Wang, Ruo Jia, Xin Gu
BACKGROUND: Meniere's disease is a unique, progressive disease of the inner ear. The complex manifestation presents diagnostic challenges. The cochlear symptoms often present before vertigo and tend to be ignored. This study aimed to analyze the characteristics of cochlear symptoms and functions associated with Meniere's disease to investigate the regularity of the development of this disorder. METHODS: One-hundred fifteen patients who were diagnosed with definite unilateral Meniere's disease at the Hearing and Vestibular Clinic of the Department of Otorhinolaryngology of Beijing Tongren Hospital from August 2013 to November 2015 were recruited in this retrospective study...
2016: Chinese Medical Journal
Andrew Melvin, Jacob George
BACKGROUND: Hot aches, also known as the screaming barfies in North America, are a recognised phenomenon amongst winter climbers, assumed to be triggered by the reperfusion of cold peripheries which then rapidly progresses to a systemic vasodilatory syndrome. Symptoms experienced in the hands include pain, numbness and throbbing followed by systemic symptoms such as nausea, irritability, dizziness and in extreme cases a transient loss of vision and hearing. Despite being well known amongst the winter climbing community, there are no publications in the scientific literature characterising the hot aches...
December 2016: Sports Medicine—Open
Neil S Patel, Jacob B Hunter, Brendan P O'Connell, Natalie M Bertrand, George B Wanna, Matthew L Carlson
OBJECTIVE: Patients with incidental or minimally symptomatic superior semicircular canal dehiscence (SSCD) are usually observed, without surgical repair. However, it remains unknown whether a labyrinthine fistula of the superior semicircular canal is associated with progressive conductive or sensorineural hearing loss over time. STUDY DESIGN: Retrospective review at two tertiary care academic referral centers. METHODS: Adults analyzed were diagnosed with SSCD by high-resolution temporal bone computed tomography and vestibular evoked myogenic potential testing and observed with a minimum of two sequential audiograms...
October 14, 2016: Laryngoscope
Lilun Li, Bryan Ward, Margaret Cocks, Amir Kheradmand, Howard W Francis
OBJECTIVE: IgG4-related disease (IgG4-RD) is an idiopathic inflammatory condition that causes pseudotumor formation in single or multiple organs, including those of the head and neck. Temporal bone involvement is rare, with only 3 cases of unilateral temporal bone IgG4-RD described in the literature. We report the first known case of IgG4-RD of bilateral temporal bones and describe its clinical presentation, diagnosis, and treatment. METHODS: The patient was a 52-year-old man with latent tuberculosis (TB) who presented with a 10-year history of bilateral profound hearing loss and vestibular dysfunction...
October 10, 2016: Annals of Otology, Rhinology, and Laryngology
Narendra Kumar Narahari, Paramjyothi K Gongati, Shantveer G Uppin, Anu Kapoor, Bhaskar Kakarla, Ramakrishna Dev Tella
A 66-year-old man presented with dry cough and shortness of breath on exertion of 6 months' duration. There were no complaints of fever and hemoptysis. His history was significant for recurrent episodes of respiratory tract infections over the previous 4 years. He had also had episodes of recurrent otitis media and pus discharge from the left ear for 3 years, with progressive loss of hearing. There was no history of recurrent skin infections or diarrhea. He was treated symptomatically with antibiotics by local general practitioners...
October 2016: Chest
Takehiko Ueyama, Yuzuru Ninoyu, Shin-Ya Nishio, Takushi Miyoshi, Hiroko Torii, Koji Nishimura, Kazuma Sugahara, Hideaki Sakata, Dean Thumkeo, Hirofumi Sakaguchi, Naoki Watanabe, Shin-Ichi Usami, Naoaki Saito, Shin-Ichiro Kitajiri
DIAPH1 encodes human DIA1, a formin protein that elongates unbranched actin. The c.3634+1G>T DIAPH1 mutation causes autosomal dominant nonsyndromic sensorineural hearing loss, DFNA1, characterized by progressive deafness starting in childhood. The mutation occurs near the C-terminus of the diaphanous autoregulatory domain (DAD) of DIA1, which interacts with its N-terminal diaphanous inhibitory domain (DID), and may engender constitutive activation of DIA1. However, the underlying pathogenesis that causes DFNA1 is unclear...
October 5, 2016: EMBO Molecular Medicine
Mo Chen, Qin Wang, Gang-Hua Zhu, Peng Hu, Yuan Zhou, Tian Wang, Ruo-Sha Lai, Zi-An Xiao, Ding-Hua Xie
The TPRN gene encodes taperin, which is prominently present at the taper region of hair cell stereocilia. Mutations in TPRN have been reported to cause autosomal recessive nonsyndromic deafness 79(DFNB 79). To investigate the role of taperin in pathogenesis of hearing loss, we generated TPRN knockout mice using TALEN technique. Sanger sequencing confirmed an 11 bp deletion at nucleotide 177-187 in exon 1 of TPRN, which results in a truncated form of taperin protein. Heterozygous TPRN(+/-) mice showed apparently normal auditory phenotypes to their wide-type (WT) littermates...
October 28, 2016: Biochemical and Biophysical Research Communications
G M Strain, A J Rosado Martinez, K A McGee, C L McMillan
Recordings of distortion product otoacoustic emissions (DPOAE) were taken from 28 geriatric dogs aged 12.2 ± 2.2 years and 15 control dogs aged 5.9 ± 3.0 years (mean ± standard deviation) to demonstrate frequency-specific changes in cochlear responses. Recordings were performed for primary frequencies of 2-12 kHz in 2 kHz increments. Brainstem auditory evoked response (BAER) recordings were also made from geriatric dogs for comparison with DPOAE responses. Significant decreases in DPOAE response amplitudes were observed at frequencies of 6-12 kHz in geriatric dogs compared to control dogs, reflecting loss of cochlear outer hair cells along the length of the cochlea...
October 2016: Veterinary Journal
H Schaaf, S Weiß, G Hesse
Treating tinnitus with the resources offered in hospitals can become necessary for patients suffering from complex tinnitus if a high symptom severity, usually accompanied by a corresponding psychosomatic comorbidity, is present. For such costly therapies, for example, the neuro-otologic psychosomatic tinnitus therapy (NPT) examined here, the long-term effect is particularly important; however, reliable catamnesis studies for inpatient treatments are not yet available. Data from 169 (from a total of 327 contacted) inpatients suffering from complex tinnitus were analysed here...
September 28, 2016: European Archives of Oto-rhino-laryngology
Marie Orentin, Victorine Quintaine, Alain Yelnik, Marylène Jousse, Leila Tlili, Anna Bernard, Maryse Guillemette
OBJECTIVE: Music therapy enhances awareness of sound perception and musical sensorial experience often highly impaired following a stroke, confirmed by music's neurosciences. The study aims to verify its reception and utility in a Physical Medicine and Rehabilitation (PMR) service with professional team and patients. MATERIAL/PATIENTS AND METHODS: Eleven hospitalized patients were included after stoke (without regular instrumental practice, speech disorder, severe hearing loss nor psychiatric history)...
September 2016: Annals of Physical and Rehabilitation Medicine
Robert D Frisina, Bo Ding, Xiaoxia Zhu, Joseph P Walton
Age-related hearing loss (ARHL) -presbycusis - is the most prevalent neurodegenerative disease and number one communication disorder of our aged population; and affects hundreds of millions of people worldwide. Its prevalence is close to that of cardiovascular disease and arthritis, and can be a precursor to dementia. The auditory perceptual dysfunction is well understood, but knowledge of the biological bases of ARHL is still somewhat lacking. Surprisingly, there are no FDA-approved drugs for treatment. Based on our previous studies of human subjects, where we discovered relations between serum aldosterone levels and the severity of ARHL, we treated middle age mice with aldosterone, which normally declines with age in all mammals...
September 23, 2016: Aging
S M Shi, Y H Han, H B Wang
Compound homozygous or heterozygous mutations in WFS1 can lead to autosomal recessive Wolfram syndrome (WS), and heterozygous mutations in WFS1 can lead to autosomal dominant non-syndromic low frequency sensorineural hearing loss (LFSNHL). In addition, mutations in the WFS region has relationship with diabetes and psychiatric diseases. In this paper, we provide an overview of genetic research with different phenotypes, including WS and LFSNHL.
September 7, 2016: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
Sheena Sharma, Jennifer M Kalish, Ethan M Goldberg, Francis Jeshira Reynoso, Madhura Pradhan
Background. Oral-facial-digital syndrome type 1 (OFD1) is a rare condition with X-linked dominant inheritance caused by mutations in the Cxorf5 (OFD1) gene. This gene encodes the OFD1 protein located within centrosomes and basal bodies of primary cilia. Approximately 15-50% of patients with OFD1 progress to end-stage kidney disease following development of polycystic changes within the kidneys. This condition almost always causes intrauterine lethality in males. Description of Case Diagnosis and Treatment. A Caucasian male aged 9 years and 9 months presented with increased urinary frequency, increased thirst, and decreased appetite...
2016: Case Reports in Nephrology
Allison M Bradbury, Jessica H Bagel, Xuntian Jiang, Gary P Swain, Maria L Prociuk, Caitlin A Fitzgerald, Patricia A O'Donnell, Kyle G Braund, Daniel S Ory, Charles H Vite
Globoid cell leukodystrophy (GLD), or Krabbe's disease, is a debilitating and always fatal pediatric neurodegenerative disease caused by a mutation in the gene encoding the hydrolytic enzyme galactosylceramidase (GALC). In the absence of GALC, progressive loss of myelin and accumulation of a neurotoxic substrate lead to incapacitating loss of motor and cognitive function and death, typically by 2 years of age. Currently, there is no cure. Recent convincing evidence of the therapeutic potential of combining gene and cell therapies in the murine model of GLD has accelerated the requirement for validated markers of disease to evaluate therapeutic efficacy...
November 2016: Journal of Neuroscience Research
J M Espinosa-Sanchez, J A Lopez-Escamez
Menière's disease (MD) is a chronic multifactorial disorder of the inner ear characterized by episodic vestibular symptoms associated with sensorineural hearing loss, tinnitus, and aural pressure. Epidemiologic and genomic evidence supports a genetic susceptibility with multiple biochemical pathways involved, including the endocrine system, innate immune response, and autonomic nervous system. Allergens, infectious agents, vascular events, or genetic factors could modify inner-ear homeostasis and trigger MD...
2016: Handbook of Clinical Neurology
Brian Hixon, Stephen Chan, Margaret Adkins, Jennifer B Shinn, Matthew L Bush
OBJECTIVE: The purpose of this study is to compare the timing and impact of hearing healthcare of rural and urban adults with severe hearing loss who use cochlear implants (CI). STUDY DESIGN: Cross-sectional questionnaire study. SETTING: Tertiary referral center. PATIENTS: Adult cochlear implant recipients. MAIN OUTCOME MEASURES: Data collected included county of residence, socioeconomic information, impact of hearing loss on education/employment, and timing of hearing loss treatment...
October 2016: Otology & Neurotology
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