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https://www.readbyqxmd.com/read/29792850/microrna-182-inhibits-hcmv-replication-through-activation-of-type-i-ifn-response-by-targeting-foxo3
#1
Xia He, Junfang Teng, Can Cui, Dongrui Li, Lijun Wen
Human cytomegalovirus (HCMV) has led to kinds of clinical disorders and great morbidity worldwide, such as sensorineural hearing loss (SNHL), mental retardation, and developmental delays in immunocompromised individuals. Previous studies reported that HCMV has evolved a variety of mechanisms to evade the immune system, such as dysregulation of miRNAs. However, reports concerning the role of miRNA in HCMV infection are limited. Here, we reported that a host microRNA, miR-182, was significantly up-regulated by HCMV infection in U-251MG and NPCs cells...
May 21, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#2
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29791909/iodine-induced-fetal-hypothyroidism-diagnosis-and-treatment-with-intra-amniotic-levothyroxine
#3
Macy T Hardley, Andrew H Chon, Jorge Mestman, Caroline T Nguyen, Mitchell E Geffner, Ramen H Chmait
BACKGROUND: Iodine is necessary for fetal thyroid development. Excess maternal intake of iodine can cause fetal hypothyroidism due to the inability to escape from the Wolff-Chaikoff effect in utero. CASE REPORT: We report a case of fetal hypothyroid goiter secondary to inadvertent excess maternal iodine ingestion from infertility supplements. The fetus was successfully treated with intra-amniotic levothyroxine injections. Serial fetal blood sampling confirmed fetal escape from the Wolff-Chaikoff effect in the mid third trimester...
May 23, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29791621/speech-language-pathology-aspects-in-a-pediatric-case-of-head-and-neck-arthrogryposis
#4
Jennifer Alvares Trindade, Jordana da Silva Freitas, Liliane Menzen, Carolina Laux, Lisiane de Rosa Barbosa, Maria Cristina de Almeida Freitas Cardoso
Arthrogryposis is a rare, multiple, congenital syndrome of non-progressive nature characterized by a series of genetic malformations, as well as stiffness and joint contractures. This is a clinical case study whose objective is to describe speech-language pathology disorders through the evaluation process in a case of arthrogryposis in Pediatrics. The medical records of a patient were analyzed from birth. A complete clinical evaluation of pediatric dysphagia was performed, establishing a diagnosis of severe oropharyngeal dysphagia evidenced by functional and structural impairments...
2018: CoDAS
https://www.readbyqxmd.com/read/29790807/study-of-mitochondrial-dna-a1555g-and-c1494t-mutations-in-a-large-cohort-of-women-individuals
#5
Lin Wang, Xiaobin Wang, Xiaolong Cai, Rong Qiang
Mammalian mitochondrial A1555G and C1494T mutations are the most common causes of aminoglycoside-induced and non-syndromic hearing loss. However, these two mutations always are studied in the subject of pedigrees analysis. In the present study, we aimed to investigate the genetic characteristic of the A1555G and C1494T mutations on the population-level sampling, and to study the A1555G pattern of maternal transmission in three heteroplasmic families. Four thousand two hundred and ten unrelated women with normal hearing were enrolled as subjects...
May 23, 2018: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/29790248/diagnosis-and-management-of-conductive-hearing-loss-in-children-with-trisomy-21
#6
Robbie Stewart, Donna Gallagher, Peter Leyden
AIM: The objective of this study is to review the prevalence and degree of hearing loss in children with trisomy 21, their response to intervention and the presence of concomitant pathologies. The project will also highlight the experiences of the children from their parents' and guardians' perspective and the link between perceived service quality and an objective improvement in their hearing after rehabilitation. METHODS: All patients with trisomy 21 who were referred to district general otolaryngology outpatient clinics between 2014 and 2016 were included...
May 22, 2018: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29789864/-vascularized-tumor-of-the-retroauricular-skin
#7
P Meister, W Kelker, U Gößler, R Hammerstingl, T J Vogl, R Winkelmann
An 84-year-old female patient with loss of hearing and otorrhoea went to an otolaryngologist. On examination, a polypoid mass in the auditory canal and a retroauricular skin lesion, possibly seborrheic keratosis, were found. Only the skin was submitted for histological examination and showed a cutaneous highly vascular lesion with an associated "zellballen" of clear cells without atypia. The initial diagnosis was that of a cutaneous glomangioma. Immunohistochemical findings favored diagnosis of a paraganglioma...
May 22, 2018: Der Pathologe
https://www.readbyqxmd.com/read/29789373/voltage-gated-calcium-influx-modifies-cholinergic-inhibition-of-inner-hair-cells-in-the-immature-rat-cochlea
#8
Stephen Zachary, Nathaniel Nowak, Pankhuri Vyas, Luke Bonanni, Paul Albert Fuchs
Until postnatal day 12, inner hair cells of the rat cochlea are invested with both afferent and efferent synaptic connections. With the onset of hearing at P12, the efferent synapses disappear, and afferent (ribbon) synapses operate with greater efficiency. This change coincides with increased expression of voltage-gated potassium channels, the loss of calcium-dependent electrogenesis, and the onset of graded receptor potentials driven by sound. The transient efferent synapses include near-membrane postsynaptic cisterns thought to regulate calcium influx through the hair cell's α9α10-nAChR that activates small conductance Ca2+ -activated K+ (SK) channels...
May 22, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29789088/the-danger-zone-for-noise-hazards-around-the-black-hawk-helicopter
#9
Heath G Jones, Nathaniel T Greene, Michael R Chen, Cierrah M Azcona, Brandon J Archer, Efrem R Reeves
BACKGROUND: During ground operations, rotary-wing aircraft engines and subsystems produce noise hazards that place airfield personnel at risk for hearing damage. The noise exposure levels outside the aircraft during various operating conditions, and the distances from aircraft at which they drop to safe levels, are not readily available. The current study measured noise levels at various positions around the UH-60 Black Hawk helicopter for three operating conditions typically used when the aircraft is on the ground...
June 1, 2018: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/29788439/repair-of-temporal-bone-defects-via-the-middle-cranial-fossa-approach-treatment-of-2-pathologies-with-1-operation
#10
Daniel B Eddelman, Stephan Munich, Ryan B Kochanski, Michael Eggerstedt, Robert P Kazan, Roham Moftakhar, Lorenzo Munoz, Rich W Byrne, R Mark Wiet
BACKGROUND: Temporal bone dehiscence (TBD) often results in leakage of cerebrospinal fluid (CSF) and/or encephalocele. TBD can also occur over the superior semicircular canal, causing debilitating vertigo. Both can be repaired surgically, but traditional treatment is focused only on one pathology, not both. OBJECTIVE: To report our experience in the treatment of TBD via the middle cranial fossa (MCF) approach. METHODS: A retrospective review was conducted for all patients who underwent MCF approach for surgical repair of any temporal fossa dehiscence...
May 17, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29788270/determinants-of-hearing-aid-use-among-older-americans-with-hearing-loss
#11
Michael M McKee, HwaJung Choi, Shelby Wilson, Melissa J DeJonckheere, Philip Zazove, Helen Levy
Background and Objectives: Hearing loss (HL) is common among older adults and is associated with significant psychosocial, cognitive, and physical sequelae. Hearing aids (HA) can help, but not all individuals with HL use them. This study examines how social determinants may impact HA use. Research Design and Methods: We conducted an explanatory sequential mixed methods study involving a secondary analysis of a nationally representative data set, the Health and Retirement Study (HRS; n = 35,572)...
May 21, 2018: Gerontologist
https://www.readbyqxmd.com/read/29787354/optical-coherence-tomography-of-the-tympanic-membrane-and-middle-ear-a-review
#12
Hsern Ern Ivan Tan, Peter Luke Santa Maria, Philip Wijesinghe, Brendan Francis Kennedy, Benjamin James Allardyce, Robert Henry Eikelboom, Marcus David Atlas, Rodney James Dilley
Objective To evaluate the recent developments in optical coherence tomography (OCT) for tympanic membrane (TM) and middle ear (ME) imaging and to identify what further development is required for the technology to be integrated into common clinical use. Data Sources PubMed, Embase, Google Scholar, Scopus, and Web of Science. Review Methods A comprehensive literature search was performed for English language articles published from January 1966 to January 2018 with the keywords "tympanic membrane or middle ear,"optical coherence tomography," and "imaging...
May 1, 2018: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29785975/utility-of-otoacoustic-emissions-and-olivocochlear-reflex-in-predicting-vulnerability-to-noise-induced-inner-ear-damage
#13
Sarantis Blioskas, Miltiadis Tsalighopoulos, George Psillas, Konstantinos Markou
Aim: The aim of the present study was to explore the possible utility of otoacoustic emissions (OAEs) and efferent system strength to determine vulnerability to noise exposure in a clinical setting. Materials and Methods: The study group comprised 344 volunteers who had just begun mandatory basic training as Hellenic Corps Officers Military Academy cadets. Pure-tone audiograms were obtained on both ears. Participants were also subjected to diagnostic transient-evoked otoacoustic emissions (TEOAEs)...
May 2018: Noise & Health
https://www.readbyqxmd.com/read/29784513/racial-and-ethnic-differences-in-the-prevalence-of-congenital-cytomegalovirus-infection
#14
Karen B Fowler, Shannon A Ross, Masako Shimamura, Amina Ahmed, April L Palmer, Marian G Michaels, David I Bernstein, Pablo J Sánchez, Kristina N Feja, Audra Stewart, Suresh Boppana
OBJECTIVE: To evaluate the impact of race and ethnicity upon the prevalence and clinical spectrum of congenital cytomegalovirus infection (cCMV). STUDY DESIGN: From 2007 to 2012, 100 332 infants from 7 medical centers were screened for cCMV while in the hospital. Ethnicity and race were collected and cCMV prevalence rates were calculated. RESULTS: The overall prevalence of cCMV in the cohort was 4.5 per 1000 live births (95% CI, 4.1-4.9)...
May 18, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29784430/microvascular-decompression-for-hemifacial-spasm-surgical-techniques-and-intraoperative-monitoring
#15
M Sindou, P Mercier
Primary hemifacial spasm with few exceptions is due to the vascular compression of the facial nerve that can be evidenced with high resolution MRI. Microvascular decompression is the only curative treatment for this pathology. According to literature review detailed in chapter "conflicting vessels", the compression is located at the facial Root Exit Zone (REZ) in 95% of the cases, and in 5% distally at the cisternal or the intrameatal portion of the root as the sole conflict or in addition to one at brainstem/REZ...
May 18, 2018: Neuro-Chirurgie
https://www.readbyqxmd.com/read/29784242/hearing-outcomes-of-the-active-bone-conduction-system-bonebridge-%C3%A2-in-conductive-or-mixed-hearing-loss
#16
Claudio Carnevale, Guillermo Til-Pérez, Diego J Arancibia-Tagle, Manuel D Tomás-Barberán, Pedro L Sarría-Echegaray
OBJECTIVE: The active transcutaneous bone conduction implant Bonebridge® , is indicated for patients affected by bilateral conductive/mixed hearing loss or unilateral sensorineural hearing loss, showing hearing outcomes similar to other percutaneous bone conduction implants, but with a lower rate of complications. The aim of this study was to analyze the hearing outcomes in a series of 26 patients affected by conductive or mixed hearing loss and treated with Bonebridge® . METHODS: 26 of 30 patients implanted with Bonebridge® between October 2012 and May 2017, were included in the study...
May 18, 2018: Acta Otorrinolaringológica Española
https://www.readbyqxmd.com/read/29782633/macrothrombocytopenia-renal-dysfunction-and-nephrotic-syndrome-in-a-young-male-patient-a-case-report-of-myh9-related-disease
#17
Gabriela Sevignani, Giovana Memari Pavanelli, Sibele Sauzem Milano, Bianca Ramos Ferronato, Maria Aparecida Pachaly, Hae Ii Cheong, Mauricio de Carvalho, Fellype Carvalho Barreto
MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts...
May 17, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29782533/shared-responsibility-for-managing-fatigue-hearing-the-pilots
#18
Jennifer L Zaslona, Karyn M O'Keeffe, T Leigh Signal, Philippa H Gander
In commercial aviation, fatigue is defined as a physiological state of reduced mental or physical performance capability resulting from sleep loss, extended wakefulness, circadian phase, and/or workload. The International Civil Aviation Organisation mandates that responsibility for fatigue risk management is shared between airline management, pilots, and support staff. However, to date, the majority of research relating to fatigue mitigations in long range operations has focused on the mitigations required or recommended by regulators and operators...
2018: PloS One
https://www.readbyqxmd.com/read/29781875/feasibility-of-microrna-profiling-in-human-inner-ear-perilymph
#19
Matthew Shew, Athanasia Warnecke, Thomas Lenarz, Heike Schmitt, Sumedha Gunewardena, Hinrich Staecker
Hearing loss is common and caused by a wide range of molecular and cellular pathologies. Current diagnosis of hearing loss depends on a combination of physiologic testing, patient history, and in some cases genetic testing. Currently, no biopsy or equivalent procedure exists to diagnose inner ear disorders. MicroRNAs (miRNA) are short ribonucleic acids that regulate a variety of cellular processes. They have been found to be reliable markers for a variety of disease processes. In particular, a variety of miRNAs that are markers for neurodegenerative disease have been identified in cerebrospinal fluid...
May 17, 2018: Neuroreport
https://www.readbyqxmd.com/read/29781704/evaluating-a-smartphone-digits-in-noise-test-as-part-of-the-audiometric-test-battery
#20
Jenni-Mari Potgieter, De Wet Swanepoel, Cas Smits
 Speech-in-noise tests have become a valuable part of the audiometric test battery providing an indication of a listener's ability to function in background noise. A simple digits-in-noise (DIN) test could be valuable to support diagnostic hearing assessments, hearing aid fittings and counselling for both paediatric and adult populations. Objective: The objective of this study was to evaluate the South African English smartphone DIN test's performance as part of the audiometric test battery. Design: This descriptive study evaluated 109 adult subjects (43 male and 66 female subjects) with and without sensorineural hearing loss by comparing pure-tone air conduction thresholds, speech recognition monaural performance scores (SRS dB) and the DIN speech reception threshold (SRT)...
May 21, 2018: South African Journal of Communication Disorders. die Suid-Afrikaanse Tydskrif Vir Kommunikasieafwykings
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