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Progressive hearing loss

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https://www.readbyqxmd.com/read/28720529/population-rcharacteristics-and-progressive-disability-in-neuofibromatosis-type-2
#1
Kensho Iwatate, Takeshi Yokoo, Eriko Iwatate, Masahiro Ichikawa, Taku Sato, Masazumi Fujii, Jun Sakuma, Kiyoshi Saito
OBJECTIVE: To characterize the clinical features of the NF2 population and determine prognostic risk factors for progressive disabilities. METHODS: In this retrospective cohort study of the Japanese national NF2 registry between 2009-2013, various clinical data (demographic, history, oncological, and neurological) of 807 patients with diagnosis of NF2 were analyzed. The overall severity of neurological disability was assessed using a comprehensive 25-point scoring system encompassing a wide variety of neurological deficits...
July 15, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28717752/challenges-of-treating-childhood-medulloblastoma-in-a-country-with-limited-resources-20-years-of-experience-at-a-single-tertiary-center-in-malaysia
#2
Revathi Rajagopal, Sayyidatul Abd-Ghafar, Dharmendra Ganesan, Anita Zarina Bustam Mainudin, Kum Thong Wong, Norlisah Ramli, Vida Jawin, Su Han Lum, Tsiao Yi Yap, Eric Bouffet, Ibrahim Qaddoumi, Shekhar Krishnan, Hany Ariffin, Wan Ariffin Abdullah
PURPOSE: Pediatric medulloblastoma (MB) treatment has evolved over the past few decades; however, treating children in countries with limited resources remains challenging. Until now, the literature regarding childhood MB in Malaysia has been nonexistent. Our objectives were to review the demographics and outcome of pediatric MB treated at the University Malaya Medical Center between January 1994 and December 2013 and describe the challenges encountered. METHODS: Fifty-one patients with childhood MB were seen at University Malaya Medical Center...
April 2017: Journal of Global Oncology
https://www.readbyqxmd.com/read/28717668/different-renal-phenotypes-in-related-adult-males-with-fabry-disease-with-the-same-classic-genotype
#3
Renzo Mignani, Mariarita Moschella, Giovanna Cenacchi, Ilaria Donati, Marta Flachi, Daniela Grimaldi, Davide Cerretani, Paola De Giovanni, Marcello Montevecchi, Angelo Rigotti, Alessandro Ravasio
BACKGROUND: Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation. METHODS: A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia. RESULTS: The DBS revealed absent leukocyte α-Gal A enzyme activity while DNA analysis identified the I354K mutation. Serum creatinine and e-GFR were in normal range and also albuminuria and proteinuria were absent...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28715930/transcription-analysis-of-cochlear-development-in-minipigs
#4
Qinghua Wang, Yan Zhang, Weiwei Guo, Yu Liu, Hong Wei, Shiming Yang
CONCLUSIONS: The critical stage for cochlear gene regulation in the embryo is E49-E56. These data provide a valuable resource to help elucidate gene regulation in cochlear development and will benefit ear-related studies, especially those that focus on gene and stem cell therapies in hearing loss. OBJECTIVES: To investigate gene regulation in cochlear development and provide reference information for ear-related research. METHODS: Total RNA extraction from the Bama miniature pig cochlea was performed at five time points that covered most of the cochlea development process (E42, E49, E56, E91, P13)...
July 18, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28713423/discovering-the-unexpected-with-the-utilization-of-ngs-in-diagnostics-of-non-syndromic-hearing-loss-disorders-the-family-case-of-ildr1-dependent-hearing-loss-disorder
#5
Jernej Kovač, Gašper Klančar, Katarina Trebušak Podkrajšek, Saba Battelino
Sensorineural hearing loss (SNHL) is a heterogeneous family of hearing disabilities with congenital (including genetic) as well as acquired etiology. Congenital SNHL of genetic etiology is further sub-divided into autosomal dominant, autosomal recessive and X-linked SNHL. More than 60 genes are involved in the etiology of autosomal recessive non-syndromic hearing loss (ARNSHL) commonly manifesting as heterogeneous pre-lingual profound to severe non-progressive clinical phenotype. ILDR1-dependent ARNSHL (DFNB42, OMIM: # 609646) is a very rare sub-type of hearing disability, with unknown prevalence, caused by function-damaging genetic variants in ILDR1 gene reported in families of Middle-Eastern origin...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28707997/gamma-knife-radiosurgery-for-large-vestibular-schwannomas-greater-than-3-cm-in-diameter
#6
Cheng-Wei Huang, Hsien-Tang Tu, Chun-Yi Chuang, Cheng-Siu Chang, Hsi-Hsien Chou, Ming-Tsung Lee, Chuan-Fu Huang
OBJECTIVE Stereotactic radiosurgery (SRS) is an important alternative management option for patients with small- and medium-sized vestibular schwannomas (VSs). Its use in the treatment of large tumors, however, is still being debated. The authors reviewed their recent experience to assess the potential role of SRS in larger-sized VSs. METHODS Between 2000 and 2014, 35 patients with large VSs, defined as having both a single dimension > 3 cm and a volume > 10 cm(3), underwent Gamma Knife radiosurgery (GKRS)...
July 14, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28707022/tldc-proteins-new-players-in-the-oxidative-stress-response-and-neurological-disease
#7
REVIEW
Mattéa J Finelli, Peter L Oliver
Oxidative stress (OS) arises from an imbalance in the cellular redox state, which can lead to intracellular damage and ultimately cell death. OS occurs as a result of normal ageing, but it is also implicated as a common etiological factor in neurological disease; thus identifying novel proteins that modulate the OS response may facilitate the design of new therapeutic approaches applicable to many disorders. In this review, we describe the recent progress that has been made using a range of genetic approaches to understand a family of proteins that share the highly conserved TLDc domain...
July 13, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28705044/the-genetics-of-hair-cell-function-in-zebrafish
#8
Teresa Nicolson
Our ears are remarkable sensory organs, providing the important senses of balance and hearing. The complex structure of the inner ear, or 'labyrinth', along with the assorted neuroepithelia, have evolved to detect head movements and sounds with impressive sensitivity. The rub is that the inner ear is highly vulnerable to genetic lesions and environmental insults. According to National Institute of Health estimates, hearing loss is one of the most commonly inherited or acquired sensorineural diseases. To understand the causes of deafness and balance disorders, it is imperative to understand the underlying biology of the inner ear, especially the inner workings of the sensory receptors...
July 13, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28697517/-cochlear-implants-in-children-and-adults
#9
Thomas Zahnert, Dirk Mürbe
About 4000 patients receive a cochlear implant in Germany every year. Adults have become the main group for cochlear implantation candidacy.Elderly people with progressive and profound hearing loss experienced high communication restraints due to the limits of conventional hearing aids in the past. Nowadays cochlear implants can be offered as a well-established extension to the supply chain of hearing systems. The option of cochlear implantation for children with profound hearing impairment has led to a paradigm shift in hearing rehabilitation...
June 2017: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/28690861/whole-exome-sequencing-analysis-of-waardenburg-syndrome-in-a-chinese-family
#10
Dezhong Chen, Na Zhao, Jing Wang, Zhuoyu Li, Changxin Wu, Jie Fu, Han Xiao
Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to be disease causing by in silico analysis. This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and in silico functional prediction methods...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28687817/etiologic-and-audiologic-characteristics-of-patients-with-pediatric-onset-unilateral-and-asymmetric-sensorineural-hearing-loss
#11
Pei-Hsuan Lin, Chuan-Jen Hsu, Yi-Hsin Lin, Yin-Hung Lin, Hui-Yu Lee, Chen-Chi Wu, Tien-Chen Liu
Importance: Pediatric-onset unilateral and asymmetric sensorineural hearing loss (SNHL) is a common condition, but in most patients, the cause remains unclear; thus, determination of the hearing outlook is difficult. Objective: To analyze the etiologic and audiologic characteristics of pediatric-onset unilateral and asymmetric SNHL. Design, Setting, and Participants: In this retrospective cohort study performed from January 1, 2008, through December 31, 2016, patients at a tertiary referral center who were diagnosed with pediatric-onset unilateral or asymmetric SNHL were divided into 3 groups according to their hearing levels: unilateral hearing loss with scaled-out levels (UHL-SO), unilateral hearing loss with residual hearing (UHL-RH), and asymmetric hearing loss (AHL)...
July 6, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28686751/muckle-wells-syndrome-in-the-setting-of-basal-cell-nevus-syndrome
#12
Marie Wagener, Joseph W Laskas, Stephen Purcell, Tanya Ermolovich
Muckle-Wells syndrome (MWS) is a rare disorder inherited in an autosomal-dominant fashion that belongs to a group of hereditary periodic fever syndromes. It specifically belongs to the cryopyrin-associated periodic syndromes (CAPSs) in which there is a mutation in the NLRP3 (NLR family pyrin domain containing 3) gene that leads to overproduction of IL-1β, the source of the multisystem inflammatory symptoms. Muckle-Wells syndrome is characterized by a recurrent urticarial eruption that is associated with episodic fever, myalgia, arthralgia, malaise, progressive sensorineural hearing loss, and amyloid nephropathy (the most severe complication)...
June 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28686716/gsr-is-not-essential-for-the-maintenance-of-antioxidant-defenses-in-mouse-cochlea-possible-role-of-the-thioredoxin-system-as-a-functional-backup-for-gsr
#13
Chul Han, Mi-Jung Kim, Dalian Ding, Hyo-Jin Park, Karessa White, Logan Walker, Tongjun Gu, Masaru Tanokura, Tatsuya Yamasoba, Paul Linser, Richard Salvi, Shinichi Someya
Glutathione reductase (GSR), a key member of the glutathione antioxidant defense system, converts oxidized glutathione (GSSG) to reduced glutathione (GSH) and maintains the intracellular glutathione redox state to protect the cells from oxidative damage. Previous reports have shown that Gsr deficiency results in defects in host defense against bacterial infection, while diquat induces renal injury in Gsr hypomorphic mice. In flies, overexpression of GSR extended lifespan under hyperoxia. In the current study, we investigated the roles of GSR in cochlear antioxidant defense using Gsr homozygous knockout mice that were backcrossed onto the CBA/CaJ mouse strain, a normal-hearing strain that does not carry a specific Cdh23 mutation that causes progressive hair cell degeneration and early onset of hearing loss...
2017: PloS One
https://www.readbyqxmd.com/read/28682135/using-zebrafish-as-a-model-to-study-the-role-of-epigenetics-in-hearing-loss
#14
Yingzi He, Beier Bao, Huawei Li
The rapid progress of bioinformatics and high-throughput screening techniques in recent years has led to the identification of many candidate genes and small-molecule drugs that have the potential to make significant contributions to our understanding of the developmental and pathological processes of hearing, but it remains unclear how these genes and regulatory factors are coordinated. Increasing evidence suggests that epigenetic mechanisms are essential for establishing gene expression profiles and likely play an important role in the development of inner ear and in the pathology of hearing-associated diseases...
July 6, 2017: Expert Opinion on Drug Discovery
https://www.readbyqxmd.com/read/28678066/hearing-health-access-in-developing-countries
#15
Michael S Harris, Edward E Dodson
PURPOSE OF REVIEW: The developing world carries a disproportionate burden of hearing loss. Individuals with hearing loss in austere settings worldwide are also potentially impacted by their impairment to a greater extent owing to underdeveloped or nonexistent hearing health infrastructure. The purpose of this review is to examine the state of the literature on hearing health access in developing countries and identify areas for improvement. RECENT FINDINGS: Over the last 10 years progress has been made in some areas, whereas other aspects of hearing health in developing countries have changed very little...
July 3, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28647130/fever-induced-paroxysmal-weakness-and-encephalopathy-a-new-phenotype-of-atp1a3-mutation
#16
Sho T Yano, Kenneth Silver, Richard Young, Suzanne D DeBrosse, Roseànne S Ebel, Kathryn J Swoboda, Gyula Acsadi
BACKGROUND: We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes. METHODS: Four patients with c.2267G>A (R756H) mutations from two families and two patients with c.2267G>T (R756L) mutations from one family are described and compared with the previously reported patients with mutations resulting in R756H and R756C protein variants...
April 29, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28644112/susac-syndrome-misdiagnosed-as-multiple-sclerosis-with-exacerbation-by-interferon-beta-therapy
#17
Hussein Algahtani, Bader Shirah, Muhammad Amin, Eyad Altarazi, Hashem Almarzouki
Susac syndrome is a rare autoimmune disorder characterised by the clinical triad of encephalopathy, retinopathy (branch retinal artery occlusions) and hearing loss. The diagnosis of Susac syndrome may be difficult initially, and it is not uncommon for patients with Susac syndrome to be misdiagnosed with multiple sclerosis. In this case report, we describe a patient who was diagnosed as having multiple sclerosis for three years, with further deterioration after starting treatment with interferon beta-1a. The patient had the triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28641636/-short-and-long-term-clinical-efficacy-of-imrt-and-crt-for-treatment-of-patients-with-enktl
#18
Jian-Xiong Cui, Wu-Hua Lin
OBJECTIVE: To compare the short and long term clinical efficacy for treatment of patients with extranodal nasal-type NK/T-cell lymphoma(ENKTL) by intensity modulated radiotherapy(IMRT) and conventional radiotheraphy(CRT). METHODS: Sixty-three cases of early ENKTL were divided into the IMRT group of (33 cases) and CRT group(30 cases). The short effects, overall survival(OS) of 3 years, progression free survival(PFS) of 3 years, acute radiation injury and late adverse reactions to radiation were compared between 2 group...
June 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28626386/minimal-effects-of-age-and-exposure-to-a-noisy-environment-on-hearing-in-alpha9-nicotinic-receptor-knockout-mice
#19
Amanda M Lauer
Studies have suggested a role of weakened medial olivocochlear (OC) efferent feedback in accelerated hearing loss and increased susceptibility to noise. The present study investigated the progression of hearing loss with age and exposure to a noisy environment in medial OC-deficient mice. Alpha9 nicotinic acetylcholine receptor knockout (α9KO) and wild types were screened for hearing loss using auditory brainstem responses. α9KO mice housed in a quiet environment did not show increased hearing loss compared to wild types in young adulthood and middle age...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28617417/a-cohort-of-17-patients-with-kyphoscoliotic-ehlers-danlos-syndrome-caused-by-biallelic-mutations-in-fkbp14-expansion-of-the-clinical-and-mutational-spectrum-and-description-of-the-natural-history
#20
Cecilia Giunta, Matthias Baumann, Christine Fauth, Uschi Lindert, Ebtesam M Abdalla, Angela F Brady, James Collins, Jahannaz Dastgir, Sandra Donkervoort, Neeti Ghali, Diana S Johnson, Ariana Kariminejad, Johannes Koch, Marius Kraenzlin, Nayana Lahiri, Bernarda Lozic, Adnan Y Manzur, Jenny E V Morton, Jacek Pilch, Rebecca C Pollitt, Gudrun Schreiber, Nora L Shannon, Glenda Sobey, Anthony Vandersteen, Fleur S van Dijk, Martina Witsch-Baumgartner, Johannes Zschocke, F Michael Pope, Carsten G Bönnemann, Marianne Rohrbach
PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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