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Syndromic Sensorineural Hearing Loss

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Bibliometric analysis of potassium channel research.

Jingjing Shi, Shuqing Shi, Shuai Shi, Qiulei Jia, Guozhen Yuan, Yuguang Chu, Huan Wang, Yuanhui Hu, Hanming Cui,

OBJECTIVE:To explore the research status, hotspots, and trends in research on potassium channel. METHODS:The Web of Science core collection database was used as the data source and the visual analysis software Citespace5.4 R3 was used to visualize the studies of potassium channel in the past 10 years. The national/institutional distribution, ... Read more >>

Channels (Austin) (Channels (Austin, Tex.))
[2020, 14(1):18-27]

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Genetic Hearing Loss Associated With Autoinflammation.

Hiroshi Nakanishi, Pragya Prakash, Taku Ito, H Jeffrey Kim, Carmen C Brewer, Danielle Harrow, Isabelle Roux, Seiji Hosokawa, Andrew J Griffith,

Sensorineural hearing loss can result from dysfunction of the inner ear, auditory nerve, or auditory pathways in the central nervous system. Sensorineural hearing loss can be associated with age, exposure to ototoxic drugs or noise, or mutations in nuclear or mitochondrial genes. However, it is idiopathic in some patients. Although ... Read more >>

Front Neurol (Frontiers in Neurology)
[2020, 11:141]

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Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.

Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami,

BACKGROUND:The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perrault syndrome 5. Perrault syndrome is characterized by sensorineural ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):68]

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Macrophage activation syndrome as an initial presentation of systemic lupus erythematosus with sensorineural hearing loss in a young male patient.

Chou Luan Tan, Muhammad Hafizuddin Yahaya, Noor Shahrazat Ahmad, Chong Hong Lim,

An 18-year-old male adolescent presented with prolonged high spiking temperature, photosensitive rash, oral ulcers and reduced hearing bilaterally of recent onset. Examination revealed malar rash, vasculitis rash over bilateral palms and soles, oral and buccal ulcers, palpable posterior auricular and inguinal lymph nodes, and reduced hearing bilaterally. His further investigations ... Read more >>

BMJ Case Rep (BMJ case reports)
[2020, 13(3):]

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Implantable Devices for Single-Sided Deafness and Conductive or Mixed Hearing Loss: A Health Technology Assessment.

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Background:Single-sided deafness refers to profound sensorineural hearing loss or non-functional hearing in one ear, with normal or near-normal hearing in the other ear. Its hallmark is the inability to localize sound and hear in noisy environments. Conductive hearing loss occurs when there is a mechanical problem with the conduction of ... Read more >>

Ont Health Technol Assess Ser (Ontario health technology assessment series)
[2020, 20(1):1-165]

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Underwater Endoscopic Repair of Superior Canal Dehiscence.

Francis Creighton, Samuel R Barber, Bryan K Ward, Jeffrey D Sharon, John P Carey,

: Superior canal dehiscence (SCD) is a bony defect of the superior semicircular canal (SCC). Patients with SCD Syndrome (SCDS) may experience symptoms such as aural fullness, pulsatile tinnitus, hyperacusis, autophony, or pressure or noise-induced vertigo . The defect can be repaired in various ways, but there is potential for ... Read more >>

Otol. Neurotol. (Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology)
[2020, 41(4):560]

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Case series: Hearing loss in neuromyelitis optica spectrum disorders.

Madina Tugizova, Haojun Feng, Anna Tomczak, Kristen Steenerson, May Han,

BACKGROUND:Aquaporin 4 (AQP4)- and myelin oligodendrocyte glycoprotein (MOG)-associated neuromyelitis optica spectrum disorders (NMOSD) are thought to primarily affect the central nervous system (CNS). However, emerging evidence suggests that there are extra-CNS manifestations of NMOSD, including myopathies, gastrointestinal dysfunction, renal involvement and adverse pregnancy outcomes.1 METHODS: Three patients who reported hearing ... Read more >>

Mult Scler Relat Disord (Multiple sclerosis and related disorders)
[2020, 41:102032]

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Integrating Cupping Therapy in the Management of Sudden Sensorineural Hearing Loss: A Case Report.

Zainab A Almusleh, Walid El Ansari,

Sudden sensorineural hearing loss (SSNHL) is most often defined as a rapid hearing loss of ≥ 30 decibels across at least three contiguous audiometric frequencies over a time of ≤ 72 hours. Cupping therapy has been practiced across the world for thousands of years. Cupping therapy is practiced by creating ... Read more >>

Cureus (Cureus)
[2020, 12(2):]

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Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

Gema García-García, Iker Sanchez-Navarro, Elena Aller, Teresa Jaijo, Carla Fuster-Garcia, Ana Rodríguez-Munoz, Elena Vallejo, Juan José Tellería, Selma Vázquez, Sergi Beltrán, Sophia Derdak, Olga Zurita, Cristina Villaverde-Montero, Almudena Avila-Fernández, Marta Corton, Fiona Blanco-Kelly, Hakon Hakonarson, José M Millán, Carmen Ayuso,

Purpose:The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. Methods:Three patients from two unrelated families were initially analyzed with custom gene panels for Usher genes, non-syndromic hearing loss, or inherited syndromic retinopathies and further investigated by means of clinical or whole ... Read more >>

Mol. Vis. (Molecular vision)
[2020, 26:216-225]

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Masking Release for Speech-in-Speech Recognition Due to a Target/Masker Sex Mismatch in Children With Hearing Loss.

Lori J Leibold, Jenna M Browning, Emily Buss,

OBJECTIVES:The goal of the present study was to compare the extent to which children with hearing loss and children with normal hearing benefit from mismatches in target/masker sex in the context of speech-in-speech recognition. It was hypothesized that children with hearing loss experience a smaller target/masker sex mismatch benefit relative ... Read more >>

Ear Hear (Ear and hearing)
[2020, 41(2):259-267]

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In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss.

Mohammed Nasser Al-Kindi, Mazin Jawad Al-Khabouri, Khalsa Ahmad Al-Lamki, Flavia Palombo, Tommaso Pippucci, Giovanni Romeo, Nadia Mohammed Al-Wardy,

BACKGROUND:Hereditary hearing loss is a heterogeneous group of complex disorders with an overall incidence of one in every 500 newborns presented as syndromic and non-syndromic forms. Cadherin-related 23 (CDH23) is one of the listed deafness causative genes. It is found to be expressed in the stereocilia of hair cells and ... Read more >>

J Genet Eng Biotechnol (Journal, genetic engineering & biotechnology)
[2020, 18(1):8]

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Asymmetrically severe internal auditory canal hypoplasia: A case report.

Jeremy W Martin, Christian Wishka, Matthew Thompson, Hamid R Djalilian, David Floriolli, Cagin Senturk, Anton Hasso,

We present a case of an otherwise healthy 20-month-old with congenital sensorineural hearing loss. CT and MR imaging demonstrated bilateral asymmetrically severe hypoplasia of the internal auditory canals and vestibulocochlear nerves. Additional developmental inner ear anomalies were present in this patient, including unilateral semicircular canal hypoplasia and suspected bilateral cochlear ... Read more >>

Radiol Case Rep (Radiology case reports)
[2020, 15(5):457-459]

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Hearing Aid Treatment for Patients with Mixed Hearing Loss. Part II: Speech Recognition in Comparison to Direct Acoustic Cochlear Stimulation.

Nina Wardenga, Ad F M Snik, Eugen Kludt, Bernd Waldmann, Thomas Lenarz, Hannes Maier,

BACKGROUND:The conventional therapy for severe mixed hearing loss is middle ear surgery combined with a power hearing aid. However, a substantial group of patients with severe mixed hearing loss cannot be treated adequately with today's state-of-the-art (SOTA) power hearing aids, as predicted by the accompanying part I of this publication, ... Read more >>

Audiol. Neurootol. (Audiology & neuro-otology)
[2020, :1-10]

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Field-testing of a rapid survey method to assess the prevalence and causes of hearing loss in Gao'an, Jiangxi province, China.

Tess Bright, Xin Shan, Jinling Xu, Jianguo Liang, Baixiang Xiao, Robbert Ensink, Islay Mactaggart, Sarah Polack, Jennifer L Y Yip,

Background:The Rapid Assessment of Hearing Loss (RAHL) survey protocol aims to measure the prevalence and causes of hearing loss in a low cost and rapid manner, to inform planning of ear and hearing services. This paper reports on the first field-test of the RAHL in Gao'an County, Jiangxi Province, China. ... Read more >>

Arch Public Health (Archives of public health = Archives belges de sante publique)
[2020, 78:16]

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Hearing Aid Treatment in Patients with Mixed Hearing Loss. Part I: Expected Benefit and Limitations after Stapes Surgery.

Nina Wardenga, Victoria Diedrich, Bernd Waldmann, Thomas Lenarz, Hannes Maier,

OBJECTIVE:The purpose of the present study was to determine the fraction of patients with mixed hearing loss who can or cannot expect benefit from power hearing aids (HAs) after stapes surgery. DESIGN:The audiological outcome of 374 stapes surgeries was used to calculate the patients' individual postoperative requirements in terms of ... Read more >>

Audiol. Neurootol. (Audiology & neuro-otology)
[2020, :1-8]

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Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria.

Sha Yu, Wen-Xia Chen, Wei Lu, Chao Chen, Yihua Ni, Bo Duan, Bin Wang, Huijun Wang, Zheng-Min Xu,

BACKGROUND:Barakat syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal anomalies and is caused by mutations in GATA3 gene. SLC34A3 is the cause gene of hypophosphatemic rickets with hypercalciuria, and heterozygous carriers may have milder clinical symptoms. The aim of this study was ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2020, :e1222]

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Aymé-Gripp Syndrome

Shivarajan Manickavasagam Amudhavalli, Randi Gadea, Karen Gripp,

CLINICAL CHARACTERISTICS:Aymé-Gripp syndrome is classically defined as the triad of bilateral early cataracts, sensorineural hearing loss, and characteristic facial features in combination with neurodevelopmental abnormalities. The facial features are often described as "Down syndrome-like" and include brachycephaly, flat facial appearance, short nose, long philtrum, narrow mouth, and low-set and posteriorly ... Read more >>

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[Diagnosis and outcome analysis of diseases characterized by recurrent low-frequency sensorineural deafness].

Kan Wu, Dayong Wang, Haoran Wang, Hongyang Wang, Jing Guan, Lidong Zhao, Qiuju Wang,

Objective:The aim of this study was to explore the clinical features, hearing prognosis and differential diagnosis of recurrent low frequency sensorineural hearing loss (RLFD) . Method:The clinical characteristics, clinical manifestations, audiological examination and auxiliary examination of RLFD patients were retrospectively analyzed. We summarized clinical features, draw the pure tone audiometry ... Read more >>

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi (Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery)
[2020, 34(2):106-112]

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Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family.

Shasha Huang, Xue Gao, Yufeng Wang, Dongyang Kang, Xin Zhang, Suyan Yang, Pu Dai,

Background:GJB2 mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and thus, fewer and fewer novel pathogenic variations remain to be identified. Here, we describe a novel pathogenic variation associated with dominant hereditary deafness in a Chinese family. Methods:In this study, we examined ... Read more >>

Biomed Res Int (BioMed research international)
[2020, 2020:6370386]

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Metabolic syndrome components and sudden sensorineural hearing loss: a case-control study.

Mir Mohammad Jalali, Mahsa Nasimidoust Azgomi,

PURPOSE:Cardiovascular risk factors, including metabolic syndrome (MetS) components, were reported as possible risk factors of sudden sensorineural hearing loss (SSNHL). The objective of this study was to evaluate the relationship between MetS (and its components) and SSNHL. METHODS:Eighty-one SSNHL patients and 243 sex-, aged-matched controls participated from January 2018 to ... Read more >>

Eur Arch Otorhinolaryngol (European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery)
[2020, 277(4):1023-1029]

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Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.

Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K Poplawski, Hugh Young Rienhoff, Andreas W Schreiber, Christopher N Hahn, Anna L Brown, Hamish S Scott,

BACKGROUND:We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. METHODS:We performed whole exome sequencing to identify the causative variants. Sanger sequencing was used to perform segregation analyses on remaining family members. ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):35]

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Positional Vertigo and Unilateral Gradual Hearing Loss Following Sleeve Gastrectomy: A Case Report.

Mohsen Tabasi, Seyed Alireza Javadinia, Seyed Davar Siadat, Sana Eybpoosh, Mohammad Reza Yazdannasab, Milad Kheirvari, Fezzeh Elyasinia, Saeed Bayanolhagh, Amin Radmanesh, Ahmadreza Soroush,

Laparoscopic sleeve gastrectomy (LSG) is an effective treatment option in patients with morbid obesity, with rare long-term sideeffects. In this report, we present a 42-year-old woman who reported positional vertigo and unilateral gradual hearing loss plus continuous tinnitus after LSG. The patient had no signs or symptoms of mental health ... Read more >>

Diabetes Metab Syndr Obes (Diabetes, metabolic syndrome and obesity : targets and therapy)
[2020, 13:387-390]

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Contextualizing the Modern Epidemiology of Neurofibromatosis Type 2 in an Era of Heightened Detection of Sporadic Vestibular Schwannoma.

Eric M Dowling, John P Marinelli, Christine M Lohse, Matthew L Carlson,

OBJECTIVE:Closely paralleling previous radiologic studies, recent population-based prevalence data suggest sporadic vestibular schwannoma (VS) affects over one in 2,000 adults and up to one in 500 in those aged 70 years or older. Attributable to increased utilization of magnetic resonance imaging and screening protocols for asymmetrical sensorineural hearing loss, the ... Read more >>

Otol. Neurotol. (Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology)
[2020, 41(4):e501-e506]

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Activity-Dependent Neurodegeneration and Neuroplasticity of Auditory Neurons Following Conductive Hearing Loss in Adult Mice.

Takaomi Kurioka, Sachiyo Mogi, Manabu Tanaka, Taku Yamashita,

We examined the functional and structural changes of auditory neurons (ANs) in adult mice after conductive hearing loss (CHL). Earplugs (EPs) were bilaterally inserted in male 8-week-old mice for 4 weeks [EP(+) group] and subsequently removed for 4 weeks [EP(+/-) group]. We examined the control mice [EP(-) group] with no EPs inserted ... Read more >>

Cell. Mol. Neurobiol. (Cellular and molecular neurobiology)
[2020, :]

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Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.

Bong Jik Kim, Doo-Yi Oh, Jin Hee Han, Jayoung Oh, Min Young Kim, Hye-Rim Park, Jungirl Seok, Sung-Dong Cho, Sang-Yeon Lee, Yoonjoong Kim, Marge Carandang, In Sun Kwon, Seungmin Lee, Jeong Hun Jang, Yun-Hoon Choung, Sejoon Lee, Hakmin Lee, Sang Mee Hwang, Byung Yoon Choi,

PURPOSE:Timely diagnosis and identification of etiology of pediatric mild-to-moderate sensorineural hearing loss (SNHL) are both medically and socioeconomically important. However, the exact etiologic spectrum remains uncertain. We aimed to establish a genetic etiological spectrum, including copy-number variations (CNVs) and efficient genetic testing pipeline, of this defect. METHODS:A cohort of prospectively ... Read more >>

Genet. Med. (Genetics in Medicine)
[2020, :]

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