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Progressive hearing loss

Jiaze Tan, Haitao Yang, Jingchuan Fan, Yulan Fan, Fei Xiao
OBJECTIVES: Neutral lipid storage disease with myopathy (NLSDM) is a rare metabolic myopathy occurring owing to mutations in the patatin like phospholipase domain containing 2 (PNPLA2) gene. Till date, less than 50 patients with PNPLA2 mutations have been reported. In this study, we describe the clinical, pathological, and genetic findings, and muscle magnetic resonance imaging (MRI) changes in four Chinese patients with NLSDM. PATIENTS AND METHODS: Peripheral blood smears were stained using Wright's stain...
March 5, 2018: Clinical Neurology and Neurosurgery
David S Sharlin, Lily Ng, François Verrey, Theo J Visser, Ye Liu, Rafal T Olszewski, Michael Hoa, Heike Heuer, Douglas Forrest
Transmembrane proteins that mediate the cellular uptake or efflux of thyroid hormone potentially provide a key level of control over neurodevelopment. In humans, defects in one such protein, solute carrier SLC16A2 (MCT8) are associated with psychomotor retardation. Other proteins that transport the active form of thyroid hormone triiodothyronine (T3) or its precursor thyroxine (T4) have been identified in vitro but the wider significance of such transporters in vivo is unclear. The development of the auditory system requires thyroid hormone and the cochlea is a primary target tissue...
March 13, 2018: Scientific Reports
Honar Cherif, Andreas Greinacher, Norbert Lubenow
We report on a patient with inherited macrothrombocytopenia, MYH9 related disease (MYH9-RD). The patient was wrongly diagnosed and repeatedly treated for immune thrombocytopenia (ITP) for nearly 50 years. Cases of misdiagnosed MYH9-RD and other hereditary thrombocytopenias have been described previously. Typical clinical features such as renal failure and/or progressive loss of hearing should give grounds to suspect hereditary thrombocytopenia. Initial laboratory diagnosis can start with a simple blood smear followed by immunohistochemistry and genotyping...
March 13, 2018: Läkartidningen
Béatrice Milon, Sunayana Mitra, Yang Song, Zachary Margulies, Ryan Casserly, Virginia Drake, Jessica A Mong, Didier A Depireux, Ronna Hertzano
BACKGROUND: Noise-induced hearing loss (NIHL) is the most prevalent form of acquired hearing loss and affects about 40 million US adults. Among the suggested therapeutics tested in rodents, suberoylanilide hydroxamic acid (SAHA) has been shown to be otoprotective from NIHL; however, these results were limited to male mice. METHODS: Here we tested the effect of SAHA on the hearing of 10-week-old B6CBAF1/J mice of both sexes, which were exposed to 2 h of octave-band noise (101 dB SPL centered at 11...
March 12, 2018: Biology of Sex Differences
Masafumi Kobayashi, Maiko Miyagawa, Shin-Ya Nishio, Hideaki Moteki, Taro Fujikawa, Kenji Ohyama, Hirofumi Sakaguchi, Ikuyo Miyanohara, Akiko Sugaya, Yasushi Naito, Shin-Ya Morita, Yukihiko Kanda, Masahiro Takahashi, Kotaro Ishikawa, Yuki Nagano, Tetsuya Tono, Chie Oshikawa, Chiharu Kihara, Haruo Takahashi, Yoshihiro Noguchi, Shin-Ichi Usami
A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome. To date, more than 40 different mutations have been reported to be responsible for DFNA6/14/38. In the present study, WFS1 variants were screened in a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA6/14/38 and Wolfram-like syndrome. Massively parallel DNA sequencing of 68 target genes was performed in 2,549 unrelated Japanese HL patients to identify genomic variations responsible for HL...
2018: PloS One
José Ferreira Penêda, Nuno Barros Lima, Francisco Monteiro, Joana Vilela Silva, Rita Gama, Artur Condé
INTRODUCTION: Immune Mediated Inner Ear Disease (IMIED) is a rare form of sensorineural bilateral hearing loss, usually progressing in weeks to months and responsive to immunosuppressive treatment. Despite recent advances, there is no consensus on diagnosis and optimal treatment. METHODS: A review of articles on IMIED from the last 10 years was conducted using PubMed® database. RESULTS: IMIED is a rare disease, mostly affecting middle aged women...
March 7, 2018: Acta Otorrinolaringológica Española
Y Song, D Zhao, X Xu, F Lv, L Li, Y Jiang, O Wang, W Xia, X Xing, M Li
We identified novel compound heterozygous mutations in SERPINH1 in a Chinese boy suffering from recurrent fractures, femoral deformities, and growth retardation, which resulted in extremely rare autosomal recessive OI type X. Long-term treatment of BPs was effective in increasing BMD Z-score, reducing fracture incidence and reshaping vertebrae compression. INTRODUCTION: Osteogenesis imperfecta (OI) is a heritable bone disorder characterized by low bone mineral density, recurrent fractures, and progressive bone deformities...
March 9, 2018: Osteoporosis International
Abhishek Biswas, Hiren J Mehta, Michael A Jantz
A 62-year-old Hispanic woman, a resident of Puerto Rico, presented with symptoms of chronic cough and shortness of breath for the past 2 years that were slowly and progressively getting worse. She received a diagnosis of asthma on the basis of her history of symptomatic "wheezing" and had been on treatment with inhaled bronchodilators and corticosteroids with minimal symptomatic improvement. The peculiarity of her symptoms was that her dyspnea was worse when she was reclining in bed and she would often hear a "whistling" noise in her throat during those times...
March 2018: Chest
Norma de Oliveira Penido, Andy de Oliveira Vicente
Otosclerosis/otospongiosis is a primary osteodystrophy of the otic capsule that affects genetically predisposed individuals and leads to progressive hearing loss. Diagnosis is usually clinical, based on the findings of anamnesis, physical examination, and audiometric evaluation. However, high-resolution computed tomography scan and MRI have played an important role in the diagnosis and therapeutic approach of otosclerosis and in assisting in the differential diagnosis. The therapeutic approach is aimed at preventing, or at least minimizing, disease progression while attempting to restore hearing...
April 2018: Otolaryngologic Clinics of North America
Sofia Waissbluth, Angela Chuang, Álvaro Del Valle, Marcela Cordova
OBJECTIVES: Platinum-based chemotherapy treatments are effective against a variety of pediatric malignancies. However, its use can lead to permanent hearing loss. The aim of this study was to evaluate the long-term effect of platinum chemotherapy on hearing and evaluate its progression. METHODS: Prospective cohort study. All records of pediatric patients receiving platinum-based chemotherapy between 2001 and 2006 were reviewed. Demographics and audiograms performed before, during, and following chemotherapy were analyzed...
April 2018: International Journal of Pediatric Otorhinolaryngology
Jesse M Resnick, Gabrielle E O'Brien, Jay T Rubinstein
Since cochlear implant function involves direct depolarization of spiral ganglion neurons (SGNs) by applied current, SGN physiological health must be an important factor in cochlear implant (CI) outcomes. This expected relationship has, however, been difficult to confirm in implant recipients. Suggestively, animal studies have demonstrated both acute and progressive SGN ultrastructural changes (notably axon demyelination), even in the absence of soma death, and corresponding altered physiology following sensorineural deafening...
February 14, 2018: Hearing Research
Teppei Noda, Steven J Meas, Jumpei Nogami, Yutaka Amemiya, Ryutaro Uchi, Yasuyuki Ohkawa, Koji Nishimura, Alain Dabdoub
Primary auditory neurons (PANs) play a critical role in hearing by transmitting sound information from the inner ear to the brain. Their progressive degeneration is associated with excessive noise, disease and aging. The loss of PANs leads to permanent hearing impairment since they are incapable of regenerating. Spiral ganglion non-neuronal cells (SGNNCs), comprised mainly of glia, are resident within the modiolus and continue to survive after PAN loss. These attributes make SGNNCs an excellent target for replacing damaged PANs through cellular reprogramming...
2018: Frontiers in Cell and Developmental Biology
Mengmeng Zhao, Ping Li, Yi Xie, Xiang Liu, Lin Cheng, Tingyan Liu, Lijun Kong, Oumei Wang, Fengchan Han
The erl mouse is a mouse model of nonsyndromic autosomal recessive deafness (DFNB12) on the C57BL/6J background. This project was carried out to express the first two ectodomains of cadherin 23 (CDH23 EC1+2) of erl mice in Escherichia coli and identify the Ca2+ -binding ability of the recombinant protein. DNA sequences of CDH23 EC1+2 from wild type and erl mice were synthesized and cloned into pBV220 plasmids. Recombinant plasmids were transformed into Escherichia coli and expression of CDH23 EC1+2 was induced by increasing the temperature from 30 °C to 42 °C...
February 24, 2018: Protein Expression and Purification
Yanyang Zhang, Zhiqi Mao, Shiyu Feng, Xinyun Liu, Lan Lan, Jun Zhang, Xinguang Yu
Introduction: In neuroimaging studies, long-term unilateral hearing loss (UHL) is associated with functional changes in specific brain regions and connections; however, little is known regarding alterations in the topological organization of whole-brain functional networks and whether these alterations are related to hearing behavior in UHL patients. Methods: We acquired resting-state fMRI data from 21 patients with UHL caused by acoustic neuromas and 21 matched healthy controls...
February 2018: Brain and Behavior
Hong-Qun Wang, Li Jie, Huai-Yin Shi
BACKGROUND: Low-grade malignant endolymphatic sac tumor (ELST) is a rare neoplasm, occurring in the inner ear and invading the temporal bone. This study aims to investigate the clinicopathological features of low-grade malignant ELSTs. METHODS: The clinicopathological data of 21 patients with low-grade malignant ELSTs were collected and analyzed. RESULTS: The patients were aged 16-71 years, with an average age of 40.3 years and a median age of 39 years, and the male to female ratio was 1:1...
December 14, 2017: Pathology, Research and Practice
Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh, Byung Yoon Choi
BACKGROUND: MYO15A variants, except those in the N-terminal domain, have been shown to be associated with congenital or pre-lingual severe-to-profound hearing loss (DFNB3), which ultimately requires cochlear implantation in early childhood. Recently, such variants have also been shown to possibly cause moderate-to-severe hearing loss. Herein, we also demonstrate that some MYO15A mutant alleles can cause postlingual onset of progressive partial deafness. METHODS: Two multiplex Korean families (SB246 and SB224), manifesting postlingual, progressive, partial deafness in an autosomal recessive fashion, were recruited...
February 27, 2018: BMC Medical Genetics
Rafael Martinez-Perez, Agustin Montivero, Natalia Rayo, Marco Ramirez, Cristian Naudy, Jorge Mura
BACKGROUND: While mild hearing loss following shunting has been recently described among few papers, severe auditory impairment associated with ventriculoperitoneal (VP) shunt is an uncommon phenomenon, rarely reported among the literature. Treatment options and physio-pathology considerations are discussed in this case report. DISCUSSION: A 27-year-old man previously treated for an eight cranial nerve schwanomma with complete resection and a ventriculoperitoneal shunt 10 years prior, presented to the emergency room with acute severe hearing loss and headache...
February 22, 2018: World Neurosurgery
Michael D Weston, Shikha Tarang, Marsha L Pierce, Umesh Pyakurel, Sonia M Rocha-Sanchez, JoAnn McGee, Edward J Walsh, Garrett A Soukup
Germline mutations in Mir96, one of three co-expressed polycistronic miRNA genes (Mir96, Mir182, Mir183), cause hereditary hearing loss in humans and mice. Transgenic FVB/NCrl- Tg(GFAP-Mir183,Mir96,Mir182)MDW1 mice (Tg1MDW ), which overexpress this neurosensory-specific miRNA cluster in the inner ear, were developed as a model system to identify, in the aggregate, target genes and biologic processes regulated by the miR-183 cluster. Histological assessments demonstrate Tg1MDW/1MDW homozygotes have a modest increase in cochlear inner hair cells (IHCs)...
February 23, 2018: Scientific Reports
Kyoko Nagao, Thierry Morlet, Elizabeth Haley, Jennifer Padilla, Julianne Nemith, Robert W Mason, Shunji Tomatsu
BACKGROUND: Hearing impairment is a common problem in patients with mucopolysaccharidosis IV (MPS IV) throughout their life. Many of the adult patients with MPS IV exhibit permanent or severe hearing loss. However, there has been no systematic review of detailed audiological test results in MPS IV. MATERIALS AND METHODS: Fourteen individuals with MPS IV (13 MPS IVA and 1 MPS IVB; aged between 12 and 38 years old) participated in the current study. We obtained auditory neurophysiological responses (auditory brainstem responses and otoacoustic emissions test) in addition to pure-tone audiometry and middle ear function tests (tympanometry and acoustic reflexes)...
February 8, 2018: Molecular Genetics and Metabolism
V Noronha, V Sharma, A Joshi, V M Patil, S G Laskar, K Prabhash
BACKGROUND: Cisplatin-based chemoradiation (CTRT) is the standard of care in locally advanced head and neck cancers. Limited treatment options are available in patients unfit for cisplatin. AIMS: This audit was carried out to study the toxicities, tolerance, and outcomes of carboplatin-based CTRT in patients who are not eligible for cisplatin. MATERIALS AND METHODS: A total of 63 locally advanced head and neck cancer patients treated between January 2011 and October 2015 were administered carboplatin-based CTRT...
April 2017: Indian Journal of Cancer
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