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https://www.readbyqxmd.com/read/27911912/comprehensive-genetic-analysis-of-japanese-autosomal-dominant-sensorineural-hearing-loss-patients
#1
Yoh-Ichiro Iwasa, Shin-Ya Nishio, Shin-Ichi Usami
BACKGROUND: In general, autosomal dominant inherited hearing loss does not have a founder mutation, with the causative mutation different in each family. For this reason, there has been a strong need for efficient diagnosis methods for autosomal dominant sensorineural hearing loss (ADSNHL) patients. This study sought to verify the effectiveness of our analysis algorithm for the screening of ADSNHL patients as well as the usefulness of the massively parallel DNA sequencing (MPS). SUBJECTS AND METHODS: Seventy-five Japanese ADSNHL patients from 53 ENT departments nationwide participated in this study...
2016: PloS One
https://www.readbyqxmd.com/read/27905206/long-term-benefit-of-bone-anchored-hearing-systems-in-single-sided-deafness
#2
Martin Kompis, Wilhelm Wimmer, Marco Caversaccio
CONCLUSION: Bone Anchored Hearing Systems (BAHS) can be expected to still be used by ∼85% of patients with single sided deafness (SSD) 5 years after implantation, and by ∼50% after 10 years. OBJECTIVES: To investigate the long-term use of BAHS and the reasons to stop. METHOD: This was a retrospective chart review of all 33 German speaking adults with SSD who had been implanted with a BAHS at one center and of whom the implant status and use of the BAHS were known...
December 1, 2016: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/27898605/initial-results-of-a-safety-and-feasibility-study-of-auditory-brainstem-implantation-in-congenitally-deaf-children
#3
Eric P Wilkinson, Laurie S Eisenberg, Mark D Krieger, Marc S Schwartz, Margaret Winter, Jamie L Glater, Amy S Martinez, Laurel M Fisher, Robert V Shannon
OBJECTIVE: To determine the safety and feasibility of the auditory brainstem implant (ABI) in congenitally deaf children with cochlear aplasia and/or cochlear nerve deficiency. STUDY DESIGN: Phase I feasibility clinical trial of surgery in 10 children, ages 2 to 5 years, over a 3-year period. SETTING: Tertiary children's hospital and university-based pediatric speech/language/hearing center. INTERVENTION(S): ABI implantation and postsurgical programming...
November 24, 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27896671/a-comparison-of-the-brainstem-auditory-evoked-response-in-healthy-ears-of-unilaterally-deaf-dogs-and-bilaterally-hearing-dogs
#4
M Plonek, J Nicpoń, K Kubiak, M Wrzosek
AIMS: Auditory plasticity in response to unilateral deafness has been reported in various animal species. Subcortical changes occurring in unilaterally deaf young dogs using the brainstem auditory evoked response have not been evaluated yet. The aim of this study was to assess the brainstem auditory evoked response findings in dogs with unilateral hearing loss, and compare them with recordings obtained from healthy dogs. METHODS: Brainstem auditory evoked responses (amplitudes and latencies of waves I, II, III, V, the V/I wave amplitude ratio, wave I-V, I-III and III-V interpeak intervals) were studied retrospectively in forty-six privately owned dogs, which were either unilaterally deaf or had bilateral hearing...
November 29, 2016: Veterinary Research Communications
https://www.readbyqxmd.com/read/27894891/source-analysis-of-auditory-steady-state-responses-in-acoustic-and-electric-hearing
#5
Robert Luke, Astrid De Vos, Jan Wouters
Speech is a complex signal containing a broad variety of acoustic information. For accurate speech reception, the listener must perceive modulations over a range of envelope frequencies. Perception of these modulations is particularly important for cochlear implant (CI) users, as all commercial devices use envelope coding strategies. Prolonged deafness affects the auditory pathway. However, little is known of how cochlear implantation affects the neural processing of modulated stimuli. This study investigates and contrasts the neural processing of envelope rate modulated signals in acoustic and CI listeners...
November 25, 2016: NeuroImage
https://www.readbyqxmd.com/read/27889061/biallelic-mutations-in-mitf-cause-coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-and-deafness
#6
Aman George, Dina J Zand, Robert B Hufnagel, Ruchi Sharma, Yuri V Sergeev, Janet M Legare, Gregory M Rice, Jessica A Scott Schwoerer, Mariana Rius, Laura Tetri, David M Gamm, Kapil Bharti, Brian P Brooks
Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies; however, mutations in MITF have never been associated with microphthalmia in humans. Here, we describe a syndrome that we term COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role for MITF in regulating processes such as optic-fissure closure and bone development or homeostasis, which go beyond what is usually seen in individuals carrying monoallelic MITF mutations...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27886419/functional-characterization-of-a-novel-loss-of-function-mutation-of-prps1-related-to-early-onset-progressive-nonsyndromic-hearing-loss-in-koreans-dfnx1-potential-implications-on-future-therapeutic-intervention
#7
So Young Kim, Ah Reum Kim, Nayoung K D Kim, Chung Lee, Jin Hee Han, Min Young Kim, Eun-Hee Jeon, Woong-Yang Park, Rahul Mittal, Denise Yan, Xue Zhong Liu, Byung Yoon Choi
BACKGROUND: The symptoms of phosphoribosyl pyrophosphate synthetase 1 (PRPS1) deficiency diseases have been reported to be alleviated by medication. Herein, we report biochemical data to favor PRPS1 deficiency-related hearing loss as a potential target for pharmaceutical treatment. METHODS: We recruited 42 probands from subjects under the age of 15 years with a moderate degree of nonsyndromic autosomal-recessive or sporadic sensorineural hearing loss (SNHL) in at least one side...
November 25, 2016: Journal of Gene Medicine
https://www.readbyqxmd.com/read/27885548/health-related-quality-of-life-in-long-term-survivors-of-acute-lymphoblastic-leukemia-in-childhood-and-adolescence
#8
T Nayiager, L Anderson, A Cranston, U Athale, R D Barr
PURPOSE: Children with acute lymphoblastic leukemia (ALL), the commonest form of cancer in this age group, suffer considerable morbidity during treatment, with the majority returning to good health soon after therapy has been completed, as reflected in health-related quality of life (HRQL). However, survivors are at risk of many adverse health outcomes later, including obesity, measured by body mass index (BMI), that is compounded by limited physical activity. This study examined the HRQL of long-term survivors of ALL and its relationship to BMI and physical activity...
November 24, 2016: Quality of Life Research
https://www.readbyqxmd.com/read/27884957/altered-co2-sensitivity-of-connexin26-mutant-hemichannels-in%C3%A2-vitro
#9
Elizabeth de Wolf, Joseph van de Wiel, Jonathan Cook, Nicholas Dale
Connexin26 (Cx26) mutations underlie human pathologies ranging from hearing loss to keratitis ichthyosis deafness (KID) syndrome. Cx26 hemichannels are directly gated by CO2 and contribute to the chemosensory regulation of breathing. The KID syndrome mutation A88V is insensitive to CO2, and has a dominant negative action on the CO2 sensitivity of Cx26(WT) hemichannels, and reduces respiratory drive in humans. We have now examined the effect of further human mutations of Cx26 on its sensitivity to CO2 : Mutated Cx26 subunits, carrying one of A88S, N14K, N14Y, M34T, or V84L, were transiently expressed in HeLa cells...
November 2016: Physiological Reports
https://www.readbyqxmd.com/read/27884866/a-case-of-specific-language-impairment-in-a-deaf-signer-of-american-sign-language
#10
David Quinto-Pozos, Jenny L Singleton, Peter C Hauser
This article describes the case of a deaf native signer of American Sign Language (ASL) with a specific language impairment (SLI). School records documented normal cognitive development but atypical language development. Data include school records; interviews with the child, his mother, and school professionals; ASL and English evaluations; and a comprehensive neuropsychological and psychoeducational evaluation, and they span an approximate period of 7.5 years (11;10-19;6) including scores from school records (11;10-16;5) and a 3...
November 23, 2016: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/27881722/maintenance-of-neuronal-size-gradient-in-mntb-requires-sound-evoked-activit
#11
Jessica H Weatherstone, Conny Kopp-Scheinpflug, Nadia Pilati, Yuan Wang, Ian D Forsythe, Edwin W Rubel, Bruce L Tempel
The medial nucleus of the trapezoid body (MNTB) is an important source of inhibition during the computation of sound location. It transmits fast and precisely timed action potentials at high frequencies; this requires an efficient calcium clearance mechanism, in which the plasma membrane calcium ATPase 2 (PMCA2) is a key component. Deafwaddler (dfw(2J)) mutant mice have a null mutation in PMCA2 causing deafness in homozygotes (dfw(2J)/dfw(2J)) and high frequency hearing loss in heterozygotes (+/dfw(2J)). Despite the deafness phenotype, no significant differences in MNTB volume or cell number were observed in dfw(2J) homozygous mutants, suggesting PMCA2 is not required for MNTB neuron survival...
November 23, 2016: Journal of Neurophysiology
https://www.readbyqxmd.com/read/27881483/preliminary-evidence-assessing-social-emotional-competences-in-deaf-and-hard-of-hearing-infants-and-toddlers-using-a-new-parent-questionnaire
#12
Manfred Hintermair, Klaus Sarimski, Markus Lang
Social-emotional competences are an important developmental domain for deaf and hard of hearing (DHH) children and early diagnosis of problems is needed to ensure that DHH children receive appropriate support in this domain. In order to explore the usefulness of an instrument, which was recently developed for very young children, two studies in DHH infants and toddlers were conducted from Germany using the Social-Emotional Assessment/Evaluation Measure (Squires et al. (2013). Social-Emotional Assessment/Evaluation Measure (SEAM) Baltimore, ML: Brooks)...
November 23, 2016: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/27881482/the-significance-of-deaf-identity-for-psychological-well-being
#13
Madeleine Chapman, Jesper Dammeyer
Research has paid attention to how deaf identity affects life outcomes such as psychological well-being. However, studies are often carried out with small samples and without controlling for other variables. This study examined how different forms of identity-deaf, hearing, bicultural (deaf and hearing), and marginal (neither deaf nor hearing)-were associated with levels of psychological well-being and a number of other variables. The sample was 742 adults with hearing loss in Denmark. The study found that those with a deaf, hearing or bicultural identity had significantly higher levels of psychological well-being than those with a marginal identity...
November 23, 2016: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/27881481/emotion-understanding-in-preschool-children-with-mild-to-severe-hearing-loss
#14
Nina J Laugen, Karl H Jacobsen, Carolien Rieffe, Lars Wichstrøm
Deaf and hard of hearing school-aged children are at risk for delayed development of emotion understanding; however, little is known about this during the preschool years. We compared the level of emotion understanding in a group of 35 4-5-year-old children who use hearing aids to that of 130 children with typical hearing. Moreover, we investigated the parents' perception of their child's level of emotion understanding. Children were assessed with the Test of Emotion Comprehension. Parents were presented with the same test and asked to guess what their child answered on each item...
November 23, 2016: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/27881480/generation-of-signs-within-semantic-and-phonological-categories-data-from-deaf-adults-and-children-who-use-american-sign-language
#15
Jennifer S Beal-Alvarez, Daileen M Figueroa
Two key areas of language development include semantic and phonological knowledge. Semantic knowledge relates to word and concept knowledge. Phonological knowledge relates to how language parameters combine to create meaning. We investigated signing deaf adults' and children's semantic and phonological sign generation via one-minute tasks, including animals, foods, and specific handshapes. We investigated the effects of chronological age, age of sign language acquisition/years at school site, gender, presence of a disability, and geographical location (i...
November 23, 2016: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/27881479/barriers-and-facilitators-to-deaf-trauma-survivors-help-seeking-behavior-lessons-for-behavioral-clinical-trials-research
#16
Melissa L Anderson, Kelly S Wolf Craig, Douglas M Ziedonis
Deaf individuals experience significant obstacles to participating in behavioral health research when careful consideration is not given to accessibility during the design of study methodology. To inform such considerations, we conducted an exploratory secondary analysis of a mixed-methods study that originally explored 16 Deaf trauma survivors' help-seeking experiences. Our objective was to identify key findings and qualitative themes from consumers' own words that could be applied to the design of behavioral clinical trials methodology...
November 23, 2016: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/27875026/disseminated-bcg-pneumonitis-revealing-severe-combined-immunodeficiencyxs-in-charge-syndrome
#17
Hyung Young Kim, Yoo-Mi Kim, Hee Ju Park
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency. A 6-month-old girl with right lung agenesis, congenital heart defects, and ear anomalies developed repeated and serious respiratory infection for a short period. She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T-, B+, NK-); however, CHD7 mutation was not detected...
November 22, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27871074/comparison-of-the-hifocus-mid-scala-and-hifocus-1j-electrode-array-angular-insertion-depths-and-speech-perception-outcomes
#18
M Annerie van der Jagt, Jeroen J Briaire, Berit M Verbist, Johan H M Frijns
The HiFocus Mid-Scala (MS) electrode array has recently been introduced onto the market. This precurved design with a targeted mid-scalar intracochlear position pursues an atraumatic insertion and optimal distance for neural stimulation. In this study we prospectively examined the angular insertion depth achieved and speech perception outcomes resulting from the HiFocus MS electrode array for 6 months after implantation, and retrospectively compared these with the HiFocus 1J lateral wall electrode array. The mean angular insertion depth within the MS population (n = 96) was found at 470°...
November 21, 2016: Audiology & Neuro-otology
https://www.readbyqxmd.com/read/27870113/targeted-resequencing-of-deafness-genes-reveals-a-founder-myo15a-variant-in-northeastern-brazil
#19
Gabrielle N Manzoli, Guney Bademci, Angelina X Acosta, Têmis M Félix, F Basak Cengiz, Joseph Foster, Danniel S Dias Da Silva, Ibis Menendez, Isalis Sanchez-Pena, Demet Tekin, Susan H Blanton, Kiyoko Abe-Sandes, Xue Zhong Liu, Mustafa Tekin
Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deafness-related genes revealed the causative variants in 11 of 19 (58%) Brazilian probands with autosomal recessive HL. Identified pathogenic variants were in MYO15A (10 families) and CLDN14 (one family). Remarkably, the MYO15A p.(Val1400Met) variant was identified in eight families from the city of Monte Santo in the northeast region of Brazil...
November 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/27869457/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy-adca-dn-associated-with-progressive-cognitive-and-behavioral-deterioration
#20
Lisa A S Walker, Pierre Bourque, Andra M Smith, Jodi Warman Chardon
Objective: Autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) is an emerging syndrome caused by mutations in the C-terminus end of the TS domain of the DNMT1 gene. ADCA-DN is also associated with sensorimotor polyneuropathy, extrapyramidal, and dysautonomic signs, as well as dementia. Little has been reported about the progressive cognitive impairment associated with ADCA-DN. Our objective is to provide a detailed characterization of the cognitive profile of ADCA-DN. Method: Three members of a kindred with ADCA-DN underwent comprehensive neuropsychological testing and neuroimaging...
November 21, 2016: Neuropsychology
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