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Progressive hearing loss

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https://www.readbyqxmd.com/read/28806339/cognitive-evaluation-of-cochlear-implanted-adults-using-codex-and-moca-screening-tests
#1
Emmanuèle Ambert-Dahan, Shirley Routier, Lucie Marot, Didier Bouccara, Olivier Sterkers, Evelyne Ferrary, Isabelle Mosnier
OBJECTIVE: The relationship between hearing loss and cognitive function has already been established. The objective of our study was to determine whether the two short cognitive tests, COgnitive Disorders EXamination (CODEX) and Montreal Cognitive Assessment (MoCA), could be used in daily clinical practice to detect cognitive impairment, and its changes after cochlear implantation. PATIENTS: Eighteen patients with severe to profound postlingual progressive hearing loss (mean age ± SEM: 64 ± 3...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28803710/intrathecal-2-hydroxypropyl-%C3%AE-cyclodextrin-decreases-neurological-disease-progression-in-niemann-pick-disease-type-c1-a-non-randomised-open-label-phase-1-2-trial
#2
Daniel S Ory, Elizabeth A Ottinger, Nicole Yanjanin Farhat, Kelly A King, Xuntian Jiang, Lisa Weissfeld, Elizabeth Berry-Kravis, Cristin D Davidson, Simona Bianconi, Lee Ann Keener, Ravichandran Rao, Ariane Soldatos, Rohini Sidhu, Kimberly A Walters, Xin Xu, Audrey Thurm, Beth Solomon, William J Pavan, Bernardus N Machielse, Mark Kao, Steven A Silber, John C McKew, Carmen C Brewer, Charles H Vite, Steven U Walkley, Christopher P Austin, Forbes D Porter
BACKGROUND: Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing, 2-hydroxypropyl-β-cyclodextrins (HPβCD) significantly delayed cerebellar Purkinje cell loss, slowed progression of neurological manifestations, and increased lifespan in mouse and cat models of NPC1. The aim of this study was to assess the safety and efficacy of lumbar intrathecal HPβCD. METHODS: In this open-label, dose-escalation phase 1-2a study, we gave monthly intrathecal HPβCD to participants with NPC1 with neurological manifestation at the National Institutes of Health (NIH), Bethesda, MD, USA...
August 10, 2017: Lancet
https://www.readbyqxmd.com/read/28803703/viral-hijacking-of-formins-in-neurodevelopmental-pathologies
#3
REVIEW
Karen Racicot, Sarah VanOeveren, Art Alberts
The 2015 Zika virus (ZIKV) outbreak caused global concern when it was determined to cause microcephaly, hearing loss, and other neurodevelopmental manifestations upon fetal exposure. Significant progress has been made in our understanding of the interactions between ZIKV and the pregnant host, but there is still a critical need to understand how ZIKV and other neurotropic viruses affect fetal neurodevelopment. Diaphanous-related formins (Diaphs) have recently been identified as microcephaly-associated proteins in humans and mice...
August 10, 2017: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/28802383/absence-of-kcnq4-mutation-in-bengali-families-with-adnshl-originated-from-west-bengal-india
#4
Bidisha Adhikary, Biswabandhu Bankura, Subhradev Biswas, Silpita Paul, Madhusudan Das
OBJECTIVE: Autosomal Dominant Non-Syndromic Hearing Loss (ADNSHL) is extremely heterogeneous in nature. More than 60 loci with 30 different genes have been identified linked to ADNSHL. Mutation in KCNQ4 is considered as one of the most common causative factor responsible for ADNSHL. No study focused on the genetic alteration of KCNQ4 gene among hearing loss patients in India. The present study for the first time was carried out to determine the mutation spectrum of KCNQ4 gene in ADNSHL patients of West Bengal state, India...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802365/exploring-reasons-for-late-identification-of-children-with-early-onset-hearing-loss
#5
Elizabeth M Fitzpatrick, Johnny Cesconetto Dos Santos, Viviane Grandpierre, JoAnne Whittingham
INTRODUCTION: Several studies have shown that early identification of childhood hearing loss leads to better language outcomes. However, delays in the confirmation of hearing loss persist even in the presence of well-established universal newborn hearing screening programs (UNHS). The objective of this population-based study was to document the proportion of children who experienced delayed confirmation of congenital and early onset hearing loss in a UNHS program in one region of Canada...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28796093/duration-of-eligibility-prior-to-cochlear-implantation-have-we-made-any-progress
#6
Eric N Appelbaum, Shannon S Yoo, Robert A Perera, Daniel H Coelho
OBJECTIVE: The objective is to determine if eligibility (as defined as the duration of severe to profound hearing loss before cochlear implantation [CI]) has changed over the 30 years since Food and Drug Administration approval. DATA SOURCES: English-language, peer-reviewed articles, theses, and trial data available through PubMed and Cochrane Library databases up until and including May 31, 2016. STUDY SELECTION: One thousand six unique articles were identified...
August 8, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28796091/comparing-outcomes-following-salvage-microsurgery-in-vestibular-schwannoma-patients-failing-gamma-knife-radiosurgery-or-microsurgery
#7
Hyun-Jin Lee, Mi Joo Kim, Seung Hyun Koh, Won Seok Chang, In Seok Moon
OBJECTIVE: The increasing use of primary gamma-knife radiosurgery (GKS) for the treatment of vestibular schwannoma (VS) has led to a concomitant increase in the number of patients requiring salvage surgery for GKS failure. When patients underwent GKS as the primary treatment, it is known that dissecting tumor from adjacent nerves during salvage surgery is more difficult. In this report, we share our clinical experience with such patients and analyze the clinical findings of patients with tumor regrowth/recurrence...
August 8, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28777934/mutations-in-trappc12-manifest-in-progressive-childhood-encephalopathy-and-golgi-dysfunction
#8
Miroslav P Milev, Megan E Grout, Djenann Saint-Dic, Yong-Han Hank Cheng, Ian A Glass, Christopher J Hale, David S Hanna, Michael O Dorschner, Keshika Prematilake, Avraham Shaag, Orly Elpeleg, Michael Sacher, Dan Doherty, Simon Edvardson
Progressive childhood encephalopathy is an etiologically heterogeneous condition characterized by progressive central nervous system dysfunction in association with a broad range of morbidity and mortality. The causes of encephalopathy can be either non-genetic or genetic. Identifying the genetic causes and dissecting the underlying mechanisms are critical to understanding brain development and improving treatments. Here, we report that variants in TRAPPC12 result in progressive childhood encephalopathy. Three individuals from two unrelated families have either a homozygous deleterious variant (c...
August 3, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28769744/the-auditory-nerve-overlapped-waveform-anow-detects-small-endolymphatic-manipulations-that-may-go-undetected-by-conventional-measurements
#9
Jeffery T Lichtenhan, Choongheon Lee, Farah Dubaybo, Kaitlyn A Wenrich, Uzma S Wilson
Electrocochleography (ECochG) has been used to assess Ménière's disease, a pathology associated with endolymphatic hydrops and low-frequency sensorineural hearing loss. However, the current ECochG techniques are limited for use at high-frequencies only (≥1 kHz) and cannot be used to assess and understand the low-frequency sensorineural hearing loss in ears with Ménière's disease. In the current study, we use a relatively new ECochG technique to make measurements that originate from afferent auditory nerve fibers in the apical half of the cochlear spiral to assess effects of endolymphatic hydrops in guinea pig ears...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28760332/evidence-of-surgical-treatments-for-intractable-meniere-s-disease
#10
REVIEW
Tadashi Kitahara
Meniere's disease is an inner ear disease, characterized by recurrent rotatory vertigo, sensorineural hearing loss and tinnitus. There are some with frequent vertigo attacks, progressive hearing loss and persistent annoying tinnitus even through the continuous standard medical treatments. These cases are thought to account for 10%-20% of all cases of Meniere's disease. In this review article, we would like to demonstrate the evidences for surgical treatments according to the previous papers, and consider the next therapeutic strategies including surgical options according to the international guidelines...
July 28, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28759398/early-sign-language-exposure-and-cochlear-implantation-benefits
#11
Ann E Geers, Christine M Mitchell, Andrea Warner-Czyz, Nae-Yuh Wang, Laurie S Eisenberg
BACKGROUND: Most children with hearing loss who receive cochlear implants (CI) learn spoken language, and parents must choose early on whether to use sign language to accompany speech at home. We address whether parents' use of sign language before and after CI positively influences auditory-only speech recognition, speech intelligibility, spoken language, and reading outcomes. METHODS: Three groups of children with CIs from a nationwide database who differed in the duration of early sign language exposure provided in their homes were compared in their progress through elementary grades...
July 2017: Pediatrics
https://www.readbyqxmd.com/read/28758056/single-cell-transcriptome-analysis-of-developing-and-regenerating-spiral-ganglion-neurons
#12
Kelvin Y Kwan
The spiral ganglion neurons (SGNs) of the cochlea are essential for our ability to hear. SGN loss after exposure to ototoxic drugs or loud noise results in hearing loss. Pluripotent stem cell-derived and endogenous progenitor cell types have the potential to become SGNs and are cellular foundations for replacement therapies. Repurposing transcriptional regulatory networks to promote SGN differentiation from progenitor cells is a strategy for regeneration. Advances in the Fludigm C1 workflow or Drop-seq allow sequencing of single cell transcriptomes to reveal variability between cells...
October 2016: Current Pharmacology Reports
https://www.readbyqxmd.com/read/28739348/senescence-accelerated-mouse-prone-8-samp8-as-a-model-of-age-related-hearing-loss
#13
Aurore Marie, Philippe Larroze-Chicot, Sylvie Cosnier-Pucheu, Sergio Gonzalez-Gonzalez
Hearing loss is the most common form of sensory impairment in humans, affecting 5.3% worldwide population. In industrial countries, age-related hearing loss is a major health problem affecting one-third of individuals over 65years old. However, the physiological and molecular changes involved in this senescence process remain unclear. In this study, we determined the influence of age on auditory brainstem response (ABR) and the distortion product otoacoustic emissions (DPOAE) in the premature senescence mouse model SAMP8 for five months...
July 21, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28738350/unilateral-sensorineural-hearing-loss-medical-context-and-etiology
#14
Antoine Paul, Sandrine Marlin, Marine Parodi, Isabelle Rouillon, Joanne Guerlain, Véronique Pingault, Vincent Couloigner, Erea Noel Garabedian, Françoise Denoyelle, Natalie Loundon
OBJECTIVE: Unilateral sensorineural hearing loss (USNHL) is known to impact on school performance and social skills during childhood, but the etiologies remain unclear. The aim of this study was to assess various etiologies and to study the clinical contexts in this population. METHODS: The study is a retrospective review. Characteristics of hearing loss (HL), audiometric parameters, imaging, and genetic and medical contexts were analyzed. RESULTS: Eighty children were included...
July 22, 2017: Audiology & Neuro-otology
https://www.readbyqxmd.com/read/28733840/identification-of-a%C3%A2-rare-coch-mutation-by-whole-exome-sequencing-implications-for-personalized-therapeutic-rehabilitation-in-an-austrian-family-with-non-syndromic-autosomal-dominant-late-onset-hearing-loss
#15
Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, Andreas Kirchnawy, Berthold Streubel, Christian Schoefer, Wolfgang Gstoettner, Klemens Frei, Trevor Lucas
BACKGROUND: Non-syndromic autosomal dominant hearing impairment is characteristically postlingual in onset. Genetic diagnostics are essential for genetic counselling, disease prognosis and understanding of the molecular mechanisms of disease. To date, 36 causative genes have been identified, many in only individual families. Gene selection for genetic screening by traditional methods and genetic diagnosis in autosomal dominant patients has therefore been fraught with difficulty. Whole-exome sequencing provides a powerful tool to analyze all protein-coding genomic regions in parallel, thus allowing the comprehensive screening of all known genes and associated alterations...
July 21, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28731162/a-homozygous-myo7a-mutation-associated-to-usher-syndrome-and-unilateral-auditory-neuropathy-spectrum-disorder
#16
Hong Xia, Pengzhi Hu, Lamei Yuan, Wei Xiong, Hongbo Xu, Junhui Yi, Zhijian Yang, Xiong Deng, Yi Guo, Hao Deng
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing...
July 21, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28720529/population-rcharacteristics-and-progressive-disability-in-neuofibromatosis-type-2
#17
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
#18
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
#19
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
#20
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
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