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https://www.readbyqxmd.com/read/28334952/dnmt1-mutations-found-in-hsanie-patients-affect-interaction-with-uhrf1-and-neuronal-differentiation
#1
Martha Smets, Stephanie Link, Patricia Wolf, Katrin Schneider, Veronica Solis, Joel Ryan, Daniela Meilinger, Weihua Qin, Heinrich Leonhardt
DNMT1 is recruited to substrate sites by PCNA and UHRF1 to maintain DNA methylation after replication. The cell cycle dependent recruitment of DNMT1 is mediated by the PCNA-binding domain (PBD) and the targeting sequence (TS) within the N-terminal regulatory domain. The TS domain was found to be mutated in patients suffering from hereditary sensory and autonomic neuropathies with dementia and hearing loss (HSANIE) and autosomal dominant cerebellar ataxia deafness and narcolepsy (ADCA-DN) and is associated with global hypomethylation and site specific hypermethylation...
March 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333778/cochlear-implant-in-severe-impaired-psychiatric-patients-a-case-series
#2
Ioana T Herisanu, Mark Praetorius, Margarete Mattern
OBJECTIVE: Psychotic disorders and intelligence deficiencies are no longer contraindications for cochlear implantation regarding the revised German guidelines from May 2012. This article aims to evaluate the outcome of patients with severe psychiatric comorbidities. Therefore the database of the Cochlear Implant Center of the University Hospital of Heidelberg was investigated. STUDY DESIGN: Retrospective case review. METHODS: We present three patients who received a cochlear implant (CI) despite a serious psychiatric disorder...
March 22, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28332931/unitary-ototoxic-gentamicin-exposure-may-not-disrupt-the-function-of-cochlear-outer-hair-cells-in-mice
#3
Ning Zhao, XuHui Tai, LiJie Zhai, Lin Shi, DaiShi Chen, Bo Yang, Fei Ji, Kun Hou, ShiMing Yang, ShuSheng Gong, Ke Liu
BACKGROUND: Previous study showed that mild ototoxic exposure could induce a reversible hearing impairment, and the loss and secondary incomplete recovery of cochlear ribbon synapses could be responsible for the hearing loss. However, it remains unclear whether cochlear outer hair cells' (OHCs) functions are affected. OBJECTIVE: To verify whether the function of OHCs are also affected significantly after the ototoxic exposure. METHODS: Mice were injected intraperitoneally with 100 mg/kg concentration of gentamicin daily for 14 days...
March 23, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28332420/hearing-aid-use-in-the-elderly-as-measured-by-datalogging-and-self-report
#4
Jorunn Solheim, Louise Hickson
OBJECTIVES: The primary aim was to compare the objective and the subjective assessments of hearing aid use among elderly people at a 6-month follow-up after fitting. A secondary aim was to determine whether advanced knowledge of follow-up impacts hearing aid use. DESIGN: Hearing aid use was assessed by datalogging (objective) and self-report (subjective) 6 months after initial fitting. Participants were also randomised to an intervention (informed of 6-month follow-up at fitting) or control group (informed just prior to follow-up)...
March 23, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28328777/youth-hearing-impairment-early-detection-is-key
#5
Janice Sampson, Heather Thompson
No abstract text is available yet for this article.
April 2017: Nursing
https://www.readbyqxmd.com/read/28328389/tablet-based-hearing-screening-test
#6
Alessandra G Samelli, Camila M Rabelo, Seisse G G Sanches, Camila P Aquino, Denise Gonzaga
INTRODUCTION: Hearing loss (HL) affects people worldwide, many of whom are children. Especially in developing countries, epidemiological data on the prevalence of HL are insufficient to implement effective health promotion programs. In this preliminary study with young adults, we describe and validate a tablet-based hearing screening test developed for interactive remote hearing screening and compare the performance of an audiometry screening tablet application with conventional audiometry...
February 22, 2017: Telemedicine Journal and E-health: the Official Journal of the American Telemedicine Association
https://www.readbyqxmd.com/read/28327918/developmental-coordination-disorder-in-children-experimental-work-and-data-annotation
#7
Lukas Vareka, Petr Bruha, Roman Moucek, Pavel Mautner, Ladislav Cepicka, Irena Holeckova
Background: Developmental coordination disorder (DCD) is described as a motor skill disorder characterized by a marked impairment in the development of motor coordination abilities that significantly interferes with performance of daily activities and/or academic achievement. Since some electrophysiological studies suggest differences between children with/without motor development problems, we prepared an experimental protocol and performed electrophysiological experiments with the aim to make a step towards a possible diagnosis of this disorder using the event-related potentials (ERP) technique...
February 24, 2017: GigaScience
https://www.readbyqxmd.com/read/28327385/acoustic-startle-modification-as-a-tool-for-evaluating-auditory-function-of-the-mouse-progress-pitfalls-and-potential
#8
REVIEW
Amanda M Lauer, Derik Behrens, Georg Klump
Acoustic startle response (ASR) modification procedures, especially prepulse inhibition (PPI), are increasingly used as behavioral measures of auditory processing and sensorimotor gating in rodents due to their perceived ease of implementation and short testing times. In practice, ASR and PPI procedures are extremely variable across animals, experimental setups, and studies, and the interpretation of results is subject to numerous caveats and confounding influences. We review considerations for modification of the ASR using acoustic stimuli, and we compare the sensitivity of PPI procedures to more traditional operant psychoacoustic techniques...
March 18, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28326059/unilateral-cochlear-implantation-reduces-tinnitus-loudness-in-bimodal-hearing-a-prospective-study
#9
Jérôme J Servais, Karl Hörmann, Elisabeth Wallhäusser-Franke
Perceptive and receptive aspects of subjective tinnitus like loudness and tinnitus-related distress are partly independent. The high percentage of hearing loss in individuals with tinnitus suggests causality of hearing impairment particularly for the tinnitus percept, leading to the hypothesis that restoration of auditory input has a larger effect on tinnitus loudness than on tinnitus-related distress. Furthermore, it is assumed that high levels of depression or anxiety prevent reductions of tinnitus loudness and distress following restoration of activity in the cochlea...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28324246/opinions-of-hearing-parents-about-the-causes-of-hearing-impairment-of-their-children-with-biallelic-gjb2-mutations
#10
Aisen V Solovyev, Lilya U Dzhemileva, Olga L Posukh, Nikolay A Barashkov, Marita S Bady-Khoo, Semen L Lobov, Natalya Yu Popova, Georgii P Romanov, Nikolay N Sazonov, Alexander A Bondar, Igor V Morozov, Mikhail I Tomsky, Sardana A Fedorova, Elza K Khusnutdinova
Hereditary hearing impairment (HI) caused by recessive GJB2 mutations is a frequent sensory disorder. The results of the molecular-based studies of HI are widely used in various genetic test systems. However, the ethical aspects are less described than the genetic aspects. The concerns expressed by individuals from groups with genetic risks must be included in the counseling of patients and their families. For evaluation of subjective opinions of hearing parents about the presumed causes of HI of their children, we analyze the cohort of parents having children with confirmed hereditary HI caused by biallelic recessive GJB2 mutations (in a homozygous or a compound heterozygous state)...
March 21, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28320335/mitochondrial-mutations-in-maternally-inherited-hearing-loss
#11
Hideki Mutai, Takahisa Watabe, Kenjiro Kosaki, Kaoru Ogawa, Tatsuo Matsunaga
BACKGROUND: Although the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to be associated with SNHL. METHODS: Screening of m.1555A > G and m.3243A > G mutations was performed for 145 probands. Nine probands fulfilled the following criteria: 1) bilateral and symmetric SNHL, 2) ≥ 4 family members with SNHL with a maternal trait of inheritance in ≥ 2 generations, 3) onset of SNHL before the age of 40 years, 4) high-frequency SNHL, and 5) no record of environmental factors related to SNHL...
March 20, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28320186/neurological-complications-after-tuberculous-meningitis-in-a-multi-state-cohort-in-the-united-states
#12
Alexander E Merkler, Alexandra S Reynolds, Gino Gialdini, Nicholas A Morris, Santosh B Murthy, Kiran Thakur, Hooman Kamel
BACKGROUND AND PURPOSE: To assess the rate of neurological complications and mortality after tuberculous meningitis in the United States. METHODS: The authors performed a retrospective cohort study of all patients 18years or older hospitalized for tuberculous meningitis in California between 2005 and 2010, New York between 2006 and 2012, and Florida between 2005 and 2012. Outcomes of interest were mortality and the following neurological complications: stroke, seizure, hydrocephalus requiring a ventriculoperitoneal shunt, vision impairment, and hearing impairment...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319479/brainstem-evoked-potential-indices-of-subcortical-auditory-processing-after-mild-traumatic-brain-injury
#13
Kathy R Vander Werff, Brian Rieger
OBJECTIVES: The primary aim of this study was to assess subcortical auditory processing in individuals with chronic symptoms after mild traumatic brain injury (mTBI) by measuring auditory brainstem responses (ABRs) to standard click and complex speech stimuli. Consistent with reports in the literature of auditory problems after mTBI (despite normal-hearing thresholds), it was hypothesized that individuals with mTBI would have evidence of impaired neural encoding in the auditory brainstem compared to noninjured controls, as evidenced by delayed latencies and reduced amplitudes of ABR components...
March 17, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28319315/maxillofacial-features-and-systemic-malformations-in-expanded-spectrum-hemifacial-microsomia
#14
Noah Cohen, Erica Cohen, Alberto Gaiero, Silvia Zecca, Graziella Fichera, Federica Baldi, Joseph Felix Giordanetto, Jacques Marie Mercier, Amnon Cohen
Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. This is a case series study of patients with HFM evaluated at a single institution. Data were acquired through history, physical examination, photographs, diagnostic radiology, and laboratory and analyzed by the FileMakerPro database on 95 patients (54F; 41M) of which 89 met the inclusion criteria...
March 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28318969/auditory-perceptual-evaluation-of-voice-quality-of-cochlear-implanted-and-normal-hearing-individuals-a-reliability-study
#15
Ana Cristina Coelho, Alcione Ghedini Brasolotto, Ana Carolina Nascimento Fernandes, Daniela Malta de Souza Medved, Eduardo Magalhães da Silva, Fayez Bahmad Júnior
OBJECTIVE: This study aimed to present an experience in rating voices of adults with normal hearing and adults with cochlear implants and critically examine the outcomes, discussing pros and cons of the methodology used. STUDY DESIGN: This is a cross-sectional, prospective study. METHODS: One hundred and fifty voice samples, consisting of 50 sustained vowels, 50 samples of connected speech, and 50 samples of conversational speech, belonging to 25 adults with hearing impairment with cochlear implants and 25 adults with normal hearing, were perceptually analyzed for inter-rater agreement and intra-rater reliability...
March 16, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28318405/the-association-between-age-related-hearing-impairment-and-metabolic-syndrome-in-korean-women-5-year-follow-up-observational-study
#16
Tae Su Kim, Eun Hui Kim, Jong Woo Chung
BACKGROUND: Although several observational studies showed a relationship between various conditions of metabolic syndrome (MetS) and hearing threshold, there are no studies about longitudinal audiometric results related MetS. The aim of this study was to investigate the association between MetS and age-related hearing impairment (ARHI) through a large, average 5-year longitudinal follow-up, clinical comparative analysis. MATERIALS AND METHODS: We recruited 1381 women older than 50 years who were enrolled in 2007 and reevaluated in 2012...
March 20, 2017: Metabolic Syndrome and related Disorders
https://www.readbyqxmd.com/read/28303854/clinical-auditory-phenotypes-associated-with-gata3-gene-mutations-in-familial-hypoparathyroidism-deafness-renal-dysplasia-syndrome
#17
Li Wang, Qiong-Fen Lin, Hong-Yang Wang, Jing Guan, Lan Lan, Lin-Yi Xie, Lan Yu, Ju Yang, Cui Zhao, Jin-Long Liang, Han-Lin Zhou, Huan-Ming Yang, Wen-Ping Xiong, Qiu-Jing Zhang, Da-Yong Wang, Qiu-Ju Wang
BACKGROUND: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. METHODS: Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations...
March 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28303412/auditory-enhancement-in-cochlear-implant-users-under-simultaneous-and-forward-masking
#18
Heather A Kreft, Andrew J Oxenham
Auditory enhancement is the phenomenon whereby the salience or detectability of a target sound within a masker is enhanced by the prior presentation of the masker alone. Enhancement has been demonstrated using both simultaneous and forward masking in normal-hearing listeners and may play an important role in auditory and speech perception within complex and time-varying acoustic environments. The few studies of enhancement in hearing-impaired listeners have reported reduced or absent enhancement effects under forward masking, suggesting a potentially peripheral locus of the effect...
March 16, 2017: Journal of the Association for Research in Otolaryngology: JARO
https://www.readbyqxmd.com/read/28301068/characteristics-of-communication-with-older-people-in-home-care-a-qualitative-analysis-of-audio-recordings-of-home-care-visits
#19
Dorte Vesterager Kristensen, Annelie J Sundler, Hilde Eide, Linda Hafskjold, Iren Ruud, Inger K Holmström
AIMS AND OBJECTIVES: To describe the characteristics of communication practice in home care visits between older people (over 65 years old) and nurse assistants (NAs) and to discuss the findings from a person-centered perspective. BACKGROUND: The older population is increasing worldwide, along with the need for health care services in the person's home. To achieve high-quality care, person-centered communication is crucial. DESIGN: A descriptive design with a qualitative inductive approach was used...
March 16, 2017: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/28300044/impact-of-operator-hearing-threshold-on-manual-blood-pressure-measurement
#20
Abubakar Danjuma Salisu, Aminu Bakari, Hamisu Abdullahi
INTRODUCTION: Une déficience auditive non détectée chez le personnel de santé pourrait affecter leur capacité à obtenir une pression artérielle (PA) précise avec des conséquences négatives sur les soins aux patients. Le but de cet article était de déterminer l'impact de l'audition de l'opérateur sur la mesure manuelle de la pression artérielle. Méthodologie: Une étude transversale portant sur 25 patients et 60 personnel de santé composé de 25 médecins (groupe 1), 25 infirmières (groupe 2) et 10 10 personnes qualifiées sélectionnées ayant une audition normale formé (groupe 3)...
January 2017: Annals of African Medicine
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