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https://www.readbyqxmd.com/read/28921839/hepatoblastoma-in-children-aged-less-than-six-months-at-diagnosis-a-report-from-the-siopel-group
#1
Patrizia Dall'Igna, Laurence Brugieres, Anne Sanlaville Christin, Rudolf Maibach, Michela Casanova, Rita Alaggio, Jean de Ville de Goyet, Jozsef Zsiros, Bruce Morland, Piotr Czauderna, Margaret Childs, Daniel C Aronson, Sophie Branchereau, Penelope Brock, Giorgio Perilongo
BACKGROUND: The purpose of this study was to evaluate clinical characteristics, treatment, and survival of children, who were diagnosed with hepatoblastoma (HB) in their first 6 months of age, enrolled in the SIOPEL 2 and 3 protocols. METHODS: Seventy-nine patients, treated between 1994 and 2006, were analyzed after stratification into three age groups: <1 month, between 1 and 3 months, and between 3 and 6 months. All received preoperative chemotherapy. RESULTS: Clinical characteristics were similar in both trials: 4 patients had pulmonary metastases at diagnosis, 4 had α-fetoprotein <100 ng/ml, 68 were operated by partial hepatectomy, and 7 received liver transplant...
September 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28916757/muscle-pathology-from-stochastic-low-level-dux4-expression-in-an-fshd-mouse-model
#2
Darko Bosnakovski, Sunny S K Chan, Olivia O Recht, Lynn M Hartweck, Collin J Gustafson, Laura L Athman, Dawn A Lowe, Michael Kyba
Facioscapulohumeral muscular dystrophy is a slowly progressive but devastating myopathy caused by loss of repression of the transcription factor DUX4; however, DUX4 expression is very low, and protein has not been detected directly in patient biopsies. Efforts to model DUX4 myopathy in mice have foundered either in being too severe, or in lacking muscle phenotypes. Here we show that the endogenous facioscapulohumeral muscular dystrophy-specific DUX4 polyadenylation signal is surprisingly inefficient, and use this finding to develop an facioscapulohumeral muscular dystrophy mouse model with muscle-specific doxycycline-regulated DUX4 expression...
September 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/28894305/electroretinography-reveals-difference-in-cone-function-between-syndromic-and-nonsyndromic-ush2a-patients
#3
Jesse D Sengillo, Thiago Cabral, Kaspar Schuerch, Jimmy Duong, Winston Lee, Katherine Boudreault, Yu Xu, Sally Justus, Janet R Sparrow, Vinit B Mahajan, Stephen H Tsang
Usher syndrome is an inherited and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss. Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP. Although gene- and cell-based therapies are on the horizon for RP and Usher syndrome, studies characterizing natural disease are lacking. In this retrospective analysis, retinal function of USH2A patients was quantified with electroretinography. Both groups had markedly reduced rod and cone responses, but nonsyndromic USH2A patients had 30 Hz-flicker electroretinogram amplitudes that were significantly higher than syndromic patients, suggesting superior residual cone function...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28893864/the-beach-protein-lrba-is-required-for-hair-bundle-maintenance-in-cochlear-hair-cells-and-for-hearing
#4
Christian Vogl, Tanvi Butola, Natja Haag, Torben J Hausrat, Michael G Leitner, Michel Moutschen, Philippe P Lefèbvre, Carsten Speckmann, Lillian Garrett, Lore Becker, Helmut Fuchs, Martin Hrabe de Angelis, Sandor Nietzsche, Michael M Kessels, Dominik Oliver, Matthias Kneussel, Manfred W Kilimann, Nicola Strenzke
Lipopolysaccharide-responsive beige-like anchor protein (LRBA) belongs to the enigmatic class of BEACH domain-containing proteins, which have been attributed various cellular functions, typically involving intracellular protein and membrane transport processes. Here, we show that LRBA deficiency in mice leads to progressive sensorineural hearing loss. In LRBA knockout mice, inner and outer hair cell stereociliary bundles initially develop normally, but then partially degenerate during the second postnatal week...
September 11, 2017: EMBO Reports
https://www.readbyqxmd.com/read/28892270/biomimetic-artificial-basilar-membranes-for-next-generation-cochlear-implants
#5
REVIEW
Jongmoon Jang, Jeong Hun Jang, Hongsoo Choi
Patients with sensorineural hearing loss can recover their hearing using a cochlear implant (CI). However, there is a need to develop next-generation CIs to overcome the limitations of conventional CIs caused by extracorporeal devices. Recently, artificial basilar membranes (ABMs) are actively studied for next-generation CIs. The ABM is an acoustic transducer that mimics the mechanical frequency selectivity of the BM and acoustic-to-electrical energy conversion of hair cells. This paper presents recent progress in biomimetic ABMs...
September 11, 2017: Advanced Healthcare Materials
https://www.readbyqxmd.com/read/28891720/vestibular-rehabilitation-following-surgical-repair-for-superior-canal-dehiscence-syndrome-a-complicated-case-report
#6
Wendy J Carender, Melissa Grzesiak
Superior Canal Dehiscence Syndrome (SCDS) causes auditory and vestibular symptoms. Following surgical repair of the dehiscence, patients often experience dizziness and imbalance. This case report describes a postoperative vestibular exercise program, focusing on the principles of central compensation and habituation, and how it was modified for a patient with delayed progress secondary to strabismus and visual vertigo. A 63-year-old male with history of strabismus eye surgery, right hearing loss, aural fullness, and sensitivity to loud sounds was referred for vestibular rehabilitation (VR)...
September 11, 2017: Physiotherapy Theory and Practice
https://www.readbyqxmd.com/read/28885997/susac-syndrome-the-first-case-report-in-peru
#7
Carolina Rivadeneira-Sotelo, María Meza Vega, Darwin Segura-Chávez, Sheila Castro-Suarez
Susac Syndrome is a rare entity, characterized by a triad of subacute encephalopathy, retinal artery occlusion and sensorineural hearing loss. It is more common in women and the age of onset fluctuates between 9-58 years of age. The pathogenesis is presented as microangiopathic changes at the cerebral, retinal and cochlear levels associated with an autoimmune mechanism. We present the case of a 31-year-old woman who started with a diffuse headache, puerile behavior, bradylalia and somnolence. As the disease progressed, she had auditory deficit and arterial obstruction of the right temporal retinal branch in retinal fluorescein angiography...
August 30, 2017: Medwave
https://www.readbyqxmd.com/read/28883024/hearing-threshold-shifts-among-military-pilots-of-the-israeli-air-force
#8
Liyona Kampel-Furman, Z Joachims, H Bar-Cohen, A Grossman, Y Frenkel-Nir, Y Shapira, E Alon, E Carmon, B Gordon
BACKGROUND: Military aviators are potentially at risk for developing noise-induced hearing loss. Whether ambient aircraft noise exposure causes hearing deficit beyond the changes attributed to natural ageing is debated. The aim of this research was to assess changes in hearing thresholds of Israeli Air Force (IAF) pilots over 20 years of military service and identify potential risk factors for hearing loss. METHODS: A retrospective cohort analysis was conducted of pure-tone air conduction audiograms of pilots, from their recruitment at 18 years of age until the last documented medical check-up...
September 6, 2017: Journal of the Royal Army Medical Corps
https://www.readbyqxmd.com/read/28881161/leptomeningeal-carcinomatosis-from-gastric-cancer-successfully-treated-by-the-intrathecal-methotrexate-plus-temozolomide-and-simultaneous-radiotherapy-case-report-and-literatures-review
#9
Yangyang Liu
Leptomeningeal carcinomatosis (LMC) from gastrointestinal cancer is rare. A 56-year-old man with complaint of upper abdominal pain exhibited adenocarcinoma upon histopathologic examination of biopsy specimens. At the end of adjuvant chemotherapy, the patient was affected by hearing loss. Malignant cells were observed by cerebrospinal fluid (CSF) cytology. Therefore, the patient received intrathecal methotrexate and oral temozolomide chemotherapy and radiotherapy. The progress-free survival was approximately 11 months...
September 7, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/28878660/long-term-progression-of-sensorineural-hearing-loss-and-tinnitus-after-combined-intensity-modulated-radiation-therapy-and-cisplatin-based-chemotherapy-for-nasopharyngeal-carcinoma-a-case-report
#10
Ming S Lee, Sudha Penumala, Steven Sweet, Russell R De Luca, Ariel E Stearnes, Yamac Akgun
Sensorineural hearing loss (SNHL) is a common adverse effect for nasopharyngeal carcinoma (NPC) patients treated with chemoradiotherapy. We report a case of 12-year follow-up from a patient with stage IIB NPC, treated in 2004 with intensity-modulated radiotherapy and cisplatin-based chemotherapy. Pure-tone audiograms were conducted before treatment and at two other points in the 12-year period after treatment. Analysis of the patient's audiograms reveals that the development of high-frequency SNHL started after treatment and reached a plateau accompanied by tinnitus approximately 32 months after treatment conclusion...
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28878610/a-novel-loss-of-function-mutation-in-hoxb1-associated-with-autosomal-recessive-hereditary-congenital-facial-palsy-in-a-large-iranian-family
#11
Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Seyed M Kalantar, Mojtaba Jaafarinia, John Chilton, Mohammadreza Dehghani
Hereditary congenital facial palsy (HCFP) is a rare congenital cranial dysinnervation disorder, recognisable by non-progressive isolated facial nerve palsy (cranial nerve VII). It is caused by developmental abnormalities of the facial nerve nucleus and its nerve. So far, 4 homozygous mutations have been identified in 5 unrelated families (12 patients) with HCFP worldwide. In this study, a large Iranian consanguineous kindred with 5 members affected by HCFP underwent thorough clinical and genetic evaluation...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28870054/-paracondylar-lateral-cervical-approach-for-resection-of-jugular-foramen-schwannomas-a-retrospective-analysis-of-15-cases
#12
X Y Wang, X R Yuan, Y W Liao, D Y Liu, Y Y Xie, J Yuan, J Su, Z J Zhao, Q Liu
Objective: To explore the effects of paracondylar-lateral cervical approach for resection of the jugular foramen schwannoma(JFS). Methods: A total of 15 patients with JFS operated via the paracondylar-lateral cervical approach between December 2011 and March 2016 at Department of Neurosurgery in Xiangya Hospital of Central South University were retrospectively analyzed. There were 7 males and 8 females, aging from 22 to 77 years with a mean age of (41.9±15.8) years.There were 12 patients who accepted primary surgery, 3 patients who accepted secondary surgery...
September 1, 2017: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/28864840/renal-auricular-and-ocular-outcomes-of-alport-syndrome-and-their-current-management
#13
Yanqin Zhang, Jie Ding
Alport syndrome is a hereditary glomerular basement membrane disease caused by mutations in the COL4A3/4/5 genes encoding the type IV collagen alpha 3-5 chains. Most cases of Alport syndrome are inherited as X-linked dominant, and some as autosomal recessive or autosomal dominant. The primary manifestations are hematuria, proteinuria, and progressive renal failure, whereas some patients present with sensorineural hearing loss and ocular abnormalities. Renin-angiotensin-aldosterone system blockade is proven to delay the onset of renal failure by reducing proteinuria...
September 1, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28862549/outcomes-of-stereotactic-radiosurgery-for-foramen-magnum-meningiomas-an-international-multicenter-study
#14
Gautam U Mehta, Georgios Zenonos, Mohana Rao Patibandla, Chung Jung Lin, Amparo Wolf, Inga Grills, David Mathieu, Brendan McShane, John Y Lee, Kevin Blas, Douglas Kondziolka, Cheng-Chia Lee, L Dade Lunsford, Jason P Sheehan
OBJECTIVE Meningiomas are the most common benign extramedullary lesions of the foramen magnum; however, their optimal management remains undefined. Given their location, foramen magnum meningiomas (FMMs) can cause significant morbidity, and complete microsurgical removal can be challenging. Anterior and anterolateral FMMs carry greater risks with surgery, but they comprise the majority of these lesions. As an alternative to resection, stereotactic radiosurgery (SRS) has been used to treat FMMs in small case series...
September 1, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28860610/association-of-leukocyte-telomere-length-and-the-risk-of-age-related-hearing-impairment-in-chinese-hans
#15
Han Liu, Huajie Luo, Tao Yang, Hao Wu, Dan Chen
Age-related hearing loss (ARHI) is the most common sensory disorder in the elderly. Although telomere attrition has been shown as a determinant in the pathobiology of various age-related diseases, it remains unknown whether telomere length is associated with ARHI. We hypothesized that decreased leukocyte telomere length (LTL) increased the risk of ARHI. Thus, we measured LTL of 666 ARHI and 43 controls by an established quantitative PCR technique. Four audiogram shape subtypes of ARHI, including "flat shape (FL)", "2-4 kHz abrupt loss (AL) shape", "8 kHz dip (8D) shape" and "sloping shape (SL)" could be identified among the cases using K-means cluster analysis...
August 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28860598/wfs1-deficient-rats-develop-primary-symptoms-of-wolfram-syndrome-insulin-dependent-diabetes-optic-nerve-atrophy-and-medullary-degeneration
#16
Mario Plaas, Kadri Seppa, Riin Reimets, Toomas Jagomäe, Maarja Toots, Tuuliki Koppel, Tuuli Vallisoo, Mait Nigul, Indrek Heinla, Riho Meier, Allen Kaasik, Andres Piirsoo, Miriam A Hickey, Anton Terasmaa, Eero Vasar
Wolfram syndrome (WS) is a rare autosomal-recessive disorder that is caused by mutations in the WFS1 gene and is characterized by juvenile-onset diabetes, optic atrophy, hearing loss and a number of other complications. Here, we describe the creation and phenotype of Wfs1 mutant rats, in which exon 5 of the Wfs1 gene is deleted, resulting in a loss of 27 amino acids from the WFS1 protein sequence. These Wfs1-ex5-KO232 rats show progressive glucose intolerance, which culminates in the development of diabetes mellitus, glycosuria, hyperglycaemia and severe body weight loss by 12 months of age...
August 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28856173/a-case-of-brown-vialetto-van-laere-syndrome-due-to-a-novel-mutation-in-slc52a3-gene-clinical-course-and-response-to-riboflavin
#17
Venkatraman Thulasi, Aravindhan Veerapandiyan, Beth A Pletcher, Chun M Tong, Xue Ming
Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC52A3 gene, who presented at the age of 2.5 years with progressive brain stem dysfunction including ptosis, facial weakness, hearing loss, dysphagia, anarthria with bilateral vocal cord paralysis, and ataxic gait...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28843833/strain-specific-differences-in-the-development-of-neuronal-excitability-in-the-mouse-ventral-nucleus-of-the-trapezoid-body
#18
James L Sinclair, Margaret Barnes-Davies, Conny Kopp-Scheinpflug, Ian D Forsythe
This investigation compared the development of neuronal excitability in the ventral nucleus of the trapezoid body (VNTB) between two strains of mice with differing progression rates for age-related hearing loss. In contrast to CBA/Ca (CBA) mice, the C57BL/6J (C57) strain are subject to hearing loss from a younger age and are more prone to damage from sound over-exposure. Higher firing rates in the medial olivocochlear system (MOC) are associated with protection from loud sounds and these cells are located in the VNTB...
August 18, 2017: Hearing Research
https://www.readbyqxmd.com/read/28842795/x-linked-hypomyelination-with-spondylometaphyseal-dysplasia-h-smd-associated-with-mutations-in-aifm1
#19
Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J Bent, Karen W Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J Sinke, Deborah Sival, Irene Stolte-Dijkstra, Andrea Superti-Furga, Nicole Ulrick, Ryan J Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A Neubauer, Cas Simons, Adeline Vanderver
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 mutation. In our study, 12 patients (6 families) with H-SMD were identified and underwent comprehensive assessment accompanied by whole-exome sequencing (WES). Pedigree analysis in all families was consistent with X-linked recessive inheritance...
August 26, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28838250/an-update-on-drug-design-strategies-to-prevent-acquired-sensorineural-hearing-loss
#20
Daniel Bodmer
Acute sensorineural hearing loss is a dramatic event for the patient. Different pathologies might result in acute sensorineural hearing loss, such as sudden hearing loss, exposure to medications/drugs or loud sound. Current therapeutic approaches include steroids and hyperbaric oxygen in addition to other methods. Research activities of the past have shed light on the molecular mechanisms involved in damage to hair cells, the synapses at the hair cell spiral ganglion junction and the stria vascularis. Molecular events and signaling pathways which underlie damage to these structures have been discovered...
August 30, 2017: Expert Opinion on Drug Discovery
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