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https://www.readbyqxmd.com/read/29456945/audiological-profile-in-primary-sj%C3%A3-gren-s-syndrome-in-a-tertiary-care-setting-and-its-clinical-implications
#1
C V Thanooja, Ann Mary Augustine, Anjali Lepcha, Pulukool Sandhya, Amit Kumar Tyagi, Debashish Danda, Achamma Balraj
This study aims to assess the frequency and the profile of hearing loss among patients with primary Sjögren's syndrome in a tertiary care hospital in India and to look for an association between hearing loss and immunological parameters (anti-SSA antibody, anti-SSB antibody, anticardiolipin antibodies, complements C3 and C4). This prospective observational study was done from January 2011 to October 2011 on consecutive patients diagnosed with primary Sjögren's syndrome in our tertiary care hospital. All patients underwent a puretone audiogram, tympanogram and acoustic reflex testing...
March 2018: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/29455623/rare-case-of-bilateral-aural-atresia-and-cochlear-dysplasia-when-cochlear-implantation-is-not-the-answer
#2
Maja Svrakic
OBJECTIVE AND IMPORTANCE: Reports of patients with concurrent middle and inner ear anomalies are rare. These patients present a surgical challenge for cochlear implantation. The surgical risk must be weighed against the predicted benefit of the patient's hearing outcome and subsequent development of speech and language as well as their quality of life. CLINICAL PRESENTATION: Thirteen-year-old boy presented to the Otology clinic for auditory rehabilitation options...
February 17, 2018: Cochlear Implants International
https://www.readbyqxmd.com/read/29453832/living-donor-liver-transplantation-for-mild-zellweger-spectrum-disorder-up-to-17-years-follow-up
#3
Tanguy Demaret, Sharat Varma, Xavier Stephenne, Françoise Smets, Isabelle Scheers, Ronald Wanders, Lionel Van Maldergem, Raymond Reding, Etienne Sokal
Mild Zellweger spectrum disorder, also described as Infantile Refsum disease, is attributable to mutations in PEX genes. Its clinical course is characterized by progressive hearing and vision loss, and neurodevelopmental regression. Supportive management is currently considered the standard of care, as no treatment has shown clinical benefits. LT was shown to correct levels of circulating toxic metabolites, partly responsible for chronic neurological impairment. Of three patients having undergone LT for mild ZSD, one died after LT, while the other two displayed significant neurodevelopmental improvement on both the long-term (17 years post-LT) and short-term (9 months post-LT) follow-up...
February 16, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29453195/mutation-of-ifnlr1-an-interferon-lambda-receptor-1-is-associated-with-autosomal-dominant-non-syndromic-hearing-loss
#4
Xue Gao, Yong-Yi Yuan, Qiong-Fen Lin, Jin-Cao Xu, Wei-Qian Wang, Yue-Hua Qiao, Dong-Yang Kang, Dan Bai, Feng Xin, Sha-Sha Huang, Shi-Wei Qiu, Li-Ping Guan, Yu Su, Guo-Jian Wang, Ming-Yu Han, Yi Jiang, Han-Kui Liu, Pu Dai
Background Hereditary sensorineural hearing loss is a genetically heterogeneous disorder. Objectives This study was designed to explore the genetic etiology of deafness in a large Chinese family with autosomal dominant, nonsyndromic, progressive sensorineural hearing loss (ADNSHL). Methods Whole exome sequencing and linkage analysis were performed to identify pathogenic mutation. Inner ear expression of Ifnlr1 was investigated by immunostaining in mice. ifnlr1 Morpholino knockdown Zebrafish were constructed to explore the deafness mechanism...
February 16, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29451456/clival-meningocele-causing-bilateral-hearing-loss-in-a-child-due-to-superficial-siderosis-of-the-central-nervous-system-case-report
#5
Stephen J Johans, Kevin N Swong, Daniel J Burkett, Michael P Wemhoff, Sean M Lew, Chirag R Patel, Anand V Germanwala
Superficial siderosis (SS) of the CNS is a rare and often unrecognized condition. Caused by hemosiderin deposition from chronic, repetitive hemorrhage in the subarachnoid space, it results in parenchymal damage in the subpial layers of the brain and spinal cord. T2-weighted MRI shows the characteristic hypointensity of hemosiderin deposition, classically occurring around the cerebellum, brainstem, and spinal cord. Patients present with progressive gait ataxia and sensorineural hearing impairment. Although there have been several studies, case reports, and review articles over the years, the clear pathophysiology of subarachnoid space hemorrhage remains to be elucidated...
February 16, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29450496/association-of-metabolic-syndrome-with-sudden-sensorineural-hearing-loss
#6
Su Young Jung, Haeng Seon Shim, Young Min Hah, Sang Hoon Kim, Seung Geun Yeo
Importance: Each of the 5 diagnostic criteria or factors of metabolic syndrome-hyperglycemia or type 2 diabetes, hypertension, obesity, elevated triglyceride levels, and decreased high-density lipoprotein cholesterol level-is associated with the pathophysiologic features of sudden sensorineural hearing loss (SSNHL). Little is known, however, about the association of metabolic syndrome, defined as the presence of at least 3 of these factors, with the prognosis of SSNHL. Objective: To evaluate the association of metabolic syndrome with the rate of recovery from SSNHL...
February 15, 2018: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/29450484/neurological-manifestations-among-us-government-personnel-reporting-directional-audible-and-sensory-phenomena-in-havana-cuba
#7
Randel L Swanson, Stephen Hampton, Judith Green-McKenzie, Ramon Diaz-Arrastia, M Sean Grady, Ragini Verma, Rosette Biester, Diana Duda, Ronald L Wolf, Douglas H Smith
Importance: From late 2016 through August 2017, US government personnel serving on diplomatic assignment in Havana, Cuba, reported neurological symptoms associated with exposure to auditory and sensory phenomena. Objective: To describe the neurological manifestations that followed exposure to an unknown energy source associated with auditory and sensory phenomena. Design, Setting, and Participants: Preliminary results from a retrospective case series of US government personnel in Havana, Cuba...
February 15, 2018: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/29447896/bony-cochlear-nerve-canal-stenosis-in-pediatric-unilateral-sensorineural-hearing-loss
#8
Chae-Hyun Lim, Ji Hyung Lim, Doyoun Kim, Ho Sung Choi, Dong-Hee Lee, Dong-Kee Kim
OBJECTIVES: This study was performed to evaluate the frequency of bony cochlear nerve canal (BCNC) stenosis and its clinical significance in pediatric patients with unilateral sensorineural hearing loss (SNHL) of unknown etiology. MATERIALS AND METHODS: We analyzed the medical records and temporal bone computed tomography (CT) results of patients less than 13 years of age with a diagnosis of unilateral SNHL of unknown etiology between July 2007 and July 2017. We compared the BCNC diameter between both sides and analyzed the age at diagnosis, degree of hearing loss, and accompanying inner ear anomalies...
March 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29447894/cochlear-implantation-in-pediatric-patients-with-cockayne-syndrome
#9
Renae D Van Wyhe, Claudia V Emery, Robert A Williamson
Cockayne Syndrome (CS) is a rare, autosomal recessive disorder characterized by a spectrum of phenotypic abnormalities, including progressive sensorineural hearing loss (SNHL) that involves both peripheral and central components. To date, a single series of CS patients undergoing cochlear implant (CI) placement has been reported; this study reports on additional previously unreported pediatric CI recipients. Subjective benefits were noted early after activation in both patients, and speech perception scores improved over time as well, varying from 42 to 70% (versus 0-12% previously)...
March 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29447812/total-serum-bilirubin-levels-and-sensorineural-hearing-loss-in-the-us-adolescents-nhanes-2007-2010
#10
Guoli Zhou, Wenjiang Fu
OBJECTIVE: We aimed to investigate whether current levels of total serum bilirubin are associated with different subtypes of sensorineural hearing loss (SNHL) in adolescents. METHODS: A set of cross-sectional data from the National Health and Nutrition Examination Survey (NHANES) (2007-2010) was used. A subset of 1404 adolescents was sampled for measurements of total serum bilirubin, tympanometry, and average pure tone threshold at low-frequencies (LPTA: 500, 1000, 2000 Hz) or high-frequencies (HPTA: 3000, 4000, 6000, and 8000 Hz)...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29447811/sensorineural-and-conductive-hearing-loss-in-infants-diagnosed-in-the-program-of-universal-newborn-hearing-screening
#11
Katarzyna Wroblewska-Seniuk, Piotr Dabrowski, Grazyna Greczka, Katarzyna Szabatowska, Agata Glowacka, Witold Szyfter, Jan Mazela
OBJECTIVE: The aim of this study was to analyze infants diagnosed with sensorineural or conductive hearing deficit and to identify risk factors associated with these defects. MATERIAL AND METHODS: A retrospective analysis of infants diagnosed with hearing deficit based on the database of the universal newborn hearing screening program and medical records of the patients. RESULTS: 27 935 infants were covered by the universal neonatal hearing screening program...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29447805/characterization-of-newborn-hearing-screening-failures-in-multigestational-births
#12
Jonathan Ross Mallen, Jacob B Hunter, Charles Auerbach, Leslie Wexler, Andrea Vambutas
OBJECTIVE: To define the rate and characterize the type of newborn hearing screening failures in multigestational births. METHODS: Retrospective chart review of all multigestational births that occurred in a 10-year period (2002-2012) in which at least one newborn failed newborn hearing screening at two tertiary care hospitals in the Northwell Health System. RESULTS: Out of 125,405 total births, we identified 2961 multigestational births, of which 59 (2...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29447718/no-240-cytomegalovirus-infection-in-pregnancy
#13
Yoav Yinon, Dan Farine, Mark H Yudin
OBJECTIVES: To review the principles of prenatal diagnosis of congenital cytomegalovirus (CMV) infection and to describe the outcomes of the affected pregnancies. OUTCOMES: Effective management of fetal infection following primary and secondary maternal CMV infection during pregnancy. Neonatal signs include intrauterine growth restriction (IUGR), microcephaly, hepatosplenomegaly, petechiae, jaundice, chorioretinitis, thrombocytopenia and anemia, and long-term sequelae consist of sensorineural hearing loss, mental retardation, delay of psychomotor development, and visual impairment...
February 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29445579/patient-with-confirmed-leopard-syndrome-developing-multiple-melanoma
#14
Caroline Colmant, Deborah Franck, Liliane Marot, Gert Matthijs, Yves Sznajer, Sandrine Blomme, Isabelle Tromme
LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D)...
January 2018: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/29443330/reply-to-the-letter-sensorineural-hearing-loss-and-congenital-cytomegalovirus-infection
#15
COMMENT
Paolo Fontana
No abstract text is available yet for this article.
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29441223/sensorineural-hearing-loss-and-congenital-cytomegalovirus-infection
#16
Beuy Joob, Viroj Wiwanitkit
No abstract text is available yet for this article.
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29440752/one-step-noninvasive-prenatal-testing-nipt-for-autosomal-recessive-homozygous-point-mutations-using-digital-pcr
#17
Mun Young Chang, Soyeon Ahn, Min Young Kim, Jin Hee Han, Hye-Rim Park, Han Kyu Seo, Jinsun Yoon, Seungmin Lee, Doo-Yi Oh, Changsoo Kang, Byung Yoon Choi
Previously, we introduced a noninvasive prenatal testing (NIPT) protocol for diagnosing compound heterozygous autosomal recessive point mutations via maternal plasma DNA and simulated control genomic DNA sampling based on fetal DNA fraction. In our present study, we have improved our NIPT protocol to make it possible to diagnose homozygous autosomal recessive point mutations without the need to acquire fetal DNA fraction. Moreover, chi-squared test and empirical statistical range based on the proportion of mutant allele reads among the total reads served as the gatekeeping method...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29436578/protective-effect-of-adenovirus-mediated-erythropoietin-expression-on-the-spiral-ganglion-neurons-in-the-rat-inner-ear
#18
Cheng Zhong, Zhendong Jiang, Qiang Guo, Xueyuan Zhang
The aim of the present study was to evaluate the expression of erythropoietin (Epo) and the Epo receptor (Epo‑R) in the spiral ganglion neurons (SGNs) of the rat inner ear, and to assess the effect of Epo adenovirus vector (Ad‑Epo) on the spontaneous apoptosis of SGNs. A total of 60 ears from 30 healthy neonatal (2‑3 days postnatal) Sprague‑Dawley rats were used to examine the expression of Epo in the SGNs. The rats were divided into three groups: The negative control group, the vector control group [infected with a green fluorescent protein expression vector (Ad‑GFP)] and the Ad‑Epo group (infected with Ad‑Epo)...
February 5, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29434137/ipsiversive-ocular-torsion-skew-deviation-and-hearing-loss-as-initial-signs-of-anterior-inferior-cerebellar-artery-infarction
#19
Tameto Naoi, Mitsuya Morita, Tadataka Kawakami, Shigeru Fujimoto
A 67-year-old man with hypertension and type 2 diabetes mellitus was admitted to our hospital because of left hearing loss and vertical diplopia. A neurological examination showed ocular torsion, skew deviation, and sensorineural hearing loss in the left ear. Brainstem and cerebellar neurological signs were not observed. Left middle cerebellar peduncle infarction was evident on magnetic resonance imaging. He was treated with antiplatelet, however, the infarct progressed after this administration. Ocular tilt reaction (OTR) involves the triad of ocular torsion, skew deviation, and head tilt...
February 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29431146/does-the-addition-of-hyperbaric-oxygen-therapy-to-conventional-treatment-modalities-influence-the-outcome-of-soldiers-with-idiopathic-sudden-sensorineural-hearing-loss
#20
Tzu-Hang Chi, M C Chiang, R F Chen, C H Yuan
BACKGROUND: Idiopathic sudden sensorineural hearing loss (ISSNHL) is defined as a 30-decibel (dB) loss in hearing over three contiguous frequencies within 3 days. The cause remains unknown, and there is currently no consensus in the literature as to how it is best treated. Conventional treatment in our unit comprises steroids, pentoxyphiline and dextran, with the potential addition of hyperbaric oxygen therapy (HBOT). METHODS: A prospective randomised trial was performed on all soldiers diagnosed with ISSNHL in our institution from 1 January 2007 to 31 December 2016...
February 3, 2018: Journal of the Royal Army Medical Corps
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