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https://www.readbyqxmd.com/read/28735268/early-surgery-and-neurodevelopmental-outcomes-of-children-born-extremely-preterm
#1
Rodney W Hunt, Leah M Hickey, Alice C Burnett, Peter J Anderson, Jeanie Ling Yoong Cheong, Lex W Doyle, Rodney W Hunt
OBJECTIVES: To (1) compare the neurodevelopmental outcomes at 8 years of age of children born extremely preterm (EP) who underwent surgical procedures during the course of their initial hospital admission with those who did not and (2) compare the outcomes across eras, from 1991 to 2005. DESIGN: Prospective observational cohort studies conducted over three different eras (1991-1992, 1997 and 2005). Surviving EP children, who required surgical intervention during the primary hospitalisation, were assessed for general intelligence (IQ) and neurosensory status at 8 years of age...
July 22, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28733276/whether-the-hearing-brain-hears-it-or-the-deaf-brain-sees-it-it-s-just-the-same
#2
Marcin Szwed, Łukasz Bola, Maria Zimmermann
No abstract text is available yet for this article.
July 21, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28731964/the-relationship-between-environmental-sound-awareness-and-speech-recognition-skills-in-experienced-cochlear-implant-users
#3
Michael S Harris, Lauren Boyce, David B Pisoni, Valeriy Shafiro, Aaron C Moberly
HYPOTHESIS: 1) Environmental sound awareness (ESA) and speech recognition skills in experienced, adult cochlear implant (CI) users will be highly correlated, and, 2) ESA skills of CI users will be significantly lower than those of age-matched adults with normal hearing. BACKGROUND: Enhancement of ESA is often discussed with patients with sensorineural hearing loss as a potential benefit of implantation and, in some cases, ESA may be a major motivating factor. Despite its ecological validity and patients' expectations, ESA remains largely a presumed skill...
July 20, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28731162/a-homozygous-myo7a-mutation-associated-to-usher-syndrome-and-unilateral-auditory-neuropathy-spectrum-disorder
#4
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/28730062/challenges-faced-by-women-with-disabilities-in-accessing-sexual-and-reproductive-health-in-zimbabwe-the-case-of-chitungwiza-town
#5
Tafadzwa Rugoho, France Maphosa
BACKGROUND: Women with disabilities in Zimbabwe face numerous challenges in accessing sexual and reproductive health. Cultural belief still regards them as not sexually active. The government has also failed to promote policies that facilitate access to sexual and reproductive services by women with disabilities. OBJECTIVES: The reseach objectives were to explore the challenges faced by women with disabilities in accessing sexual and reproductive health in Zimbabwe...
2017: Afr J Disabil
https://www.readbyqxmd.com/read/28729444/an-atoh1-s193a-phospho-mutant-allele-causes-hearing-deficits-and-motor-impairment
#6
Wei Rose Xie, Hsin-I Jen, Michelle L Seymour, Szu-Ying Yeh, Fred A Pereira, Andrew K Groves, Tiemo J Klisch, Huda Y Zoghbi
Atoh1 is a basic helix-loop-helix (bHLH) transcription factor that is essential for the genesis, survival, and maturation of a variety of neuronal and non-neuronal cell populations, including those involved in proprioception, interoception, balance, respiration, and hearing. Such diverse functions require fine regulation at the transcriptional and protein levels. Here we show that serine 193 (S193) is phosphorylated in Atoh1's bHLH domain in vivo Knock-in mice of both sexes bearing a GFP-tagged phospho-dead S193A allele on a null background (Atoh1(S193A/lacZ) ) exhibit mild cerebellar foliation defects, motor impairments, and also partial pontine nucleus migration defects, cochlear hair cell degeneration, and profound hearing loss...
July 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28729369/pigmentary-retinopathy-rod-cone-dysfunction-and-sensorineural-deafness-associated-with-a-rare-mitochondrial-trna-lys-m-8340g-a-gene-variant
#7
Jaidip S Gill, Steven A Hardy, Emma L Blakely, Sila Hopton, Andrea H Nemeth, Carl Fratter, Joanna Poulton, Robert W Taylor, Susan M Downes
BACKGROUND/AIM: The rare mitochondrial DNA (mtDNA) variant m.8340G>A has been previously reported in the literature in a single, sporadic case of mitochondrial myopathy. In this report, we aim to investigate the case of a 39-year-old male patient with sensorineural deafness who presented to the eye clinic with nyctalopia, retinal pigmentary changes and bilateral cortical cataracts. METHODS: The patient was examined clinically and investigated with autofluorescence, full-field electroretinography, electro-oculogram and dark adaptometry...
July 20, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28729247/adaptive-regulation-of-pancreatic-acinar-mitochondrial-thiamin-pyrophosphate-uptake-process-possible-involvement-of-epigenetic-mechanism-s
#8
Subrata Sabui, Veedamali S Subramanian, Rubina Kapadia, Hamid M Said
The essentiality of thiamin stems from its roles as a co-factor (mainly in the form of thiamin pyrophosphate, TPP) in critical metabolic reactions including oxidative energy metabolism and reduction of cellular oxidative stress. Like other mammalian cells, pancreatic acinar cells (PAC) obtain thiamin from their surroundings and convert it to TPP; mitochondria then take up TPP by a carrier-mediated process that involves the mitochondrial TPP (MTPP) transporter (MTPPT; product of SLC25A19 gene). Previous studies have characterized different physiological/biological aspects of the MTPP uptake process, but little is known about its possible adaptive-regulation...
July 20, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/28727651/visual-processing-recruits-the-auditory-cortices-in-prelingually-deaf-children-and-influences-cochlear-implant-outcomes
#9
Maojin Liang, Yuebo Chen, Fei Zhao, Junpeng Zhang, Jiahao Liu, Xueyuan Zhang, Yuexin Cai, Suijun Chen, Xianghui Li, Ling Chen, Yiqing Zheng
OBJECTIVE: Although visual processing recruitment of the auditory cortices has been reported previously in prelingually deaf children who have a rapidly developing brain and no auditory processing, the visual processing recruitment of auditory cortices might be different in processing different visual stimuli and may affect cochlear implant (CI) outcomes. METHODS: Ten prelingually deaf children, 4 to 6 years old, were recruited for the study. Twenty prelingually deaf subjects, 4 to 6 years old with CIs for 1 year, were also recruited; 10 with well-performing CIs, 10 with poorly performing CIs...
July 19, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28724130/early-postimplant-speech-perception-and-language-skills-predict-long-term-language-and-neurocognitive-outcomes-following-pediatric-cochlear-implantation
#10
Cynthia R Hunter, William G Kronenberger, Irina Castellanos, David B Pisoni
Purpose: We sought to determine whether speech perception and language skills measured early after cochlear implantation in children who are deaf, and early postimplant growth in speech perception and language skills, predict long-term speech perception, language, and neurocognitive outcomes. Method: Thirty-six long-term users of cochlear implants, implanted at an average age of 3.4 years, completed measures of speech perception, language, and executive functioning an average of 14...
July 19, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28723596/effectiveness-of-group-training-of-assertiveness-on-social-anxiety-among-deaf-and-hard-of-hearing-adolescents
#11
Hamed Ahmadi, Parviz Sharifi Daramadi, Majid Asadi-Samani, Hamed Givtaj, Mohammad Reza Mahmoudian Sani
The present study was conducted to compare the effectiveness of assertiveness group training on social anxiety (SAD) between deaf and hearing impaired adolescents. Forty eight (24 deaf and 24 hearing impaired) people participated in this study. First, participants with SAD, i.e. attaining the scores above 40 for Connor's Social Inventory Scale 2000 (SPIN), were selected according to convenience sampling and randomly assigned to two groups, i.e. intervention and control. Then, assertiveness group training was conducted for intervention group within 10 sessions, and immediately after completion of the training sessions, SPIN was re-administered to the two groups...
June 1, 2017: International Tinnitus Journal
https://www.readbyqxmd.com/read/28722648/perspectives-on-the-pure-tone-audiogram
#12
REVIEW
Frank E Musiek, Jennifer Shinn, Gail D Chermak, Doris-Eva Bamiou
BACKGROUND: The pure-tone audiogram, though fundamental to audiology, presents limitations, especially in the case of central auditory involvement. Advances in auditory neuroscience underscore the considerably larger role of the central auditory nervous system (CANS) in hearing and related disorders. Given the availability of behavioral audiological tests and electrophysiological procedures that can provide better insights as to the function of the various components of the auditory system, this perspective piece reviews the limitations of the pure-tone audiogram and notes some of the advantages of other tests and procedures used in tandem with the pure-tone threshold measurement...
July 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28719716/the-sophono-bone-conduction-system-surgical-audiologic-and-quality-of-life-outcomes
#13
Timothy Mclean, Irumee Pai, Andrew Philipatos, Michael Gordon
We prospectively evaluated the surgical, audiologic, and quality-of-life outcomes in 5 patients-2 men and 3 women, aged 22 to 64 years (mean: 41.8)-who were implanted with the Sophono Alpha 2 MPO Processor. The indications for implantation of this bone-conduction device included recurrent ear canal infections with hearing aids (n = 3), single-sided deafness (n = 1), and patient preference in view of difficulty using a conventional hearing aid (n = 1). In addition to the patient with single-sided deafness, 3 patients had a bilateral mixed hearing loss and 1 had a bilateral conductive hearing loss...
July 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28717663/refining-genotype-phenotype-correlation-in-alstr%C3%A3-m-syndrome-through-study-of-primary-human-fibroblasts
#14
Jian-Hua Chen, Tarekegn Geberhiwot, Timothy G Barrett, Richard Paisey, Robert K Semple
BACKGROUND: Alström syndrome (AS), featuring retinal dystrophy, neuronal deafness, cardiomyopathy, metabolic syndrome, and diffuse fibrosis, is caused by biallelic mutations in the centrosomal protein ALMS1. Genotype-phenotype correlation has been suggested without assessment of ALMS1 expression. METHODS: ALMS1 expression (real-time PCR and immunocytochemistry) and cilia formation (immunocytochemistry) were assessed in fibroblasts from deeply phenotyped volunteers diagnosed with AS recruited from a dedicated AS Service...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28717081/severe-glomerular-endothelial-injury-associated-with-a-short-d4z4-repeat-on-chromosome-4q35
#15
Satoshi Hibino, Asami Takeda, Ichizo Nishino, Naoyuki Iwata, Masaru Nakano, Kazuki Tanaka, Satoshi Yamakawa, Takuhito Nagai, Osamu Uemura
The short D4Z4 repeat on chromosome 4q35 is a confirmatory genetic cause of facioscapulohumeral muscular dystrophy (FSHD), which presents with no renal complications. We herein report a five-year-old girl previously diagnosed with Coat's-like retinopathy, deafness, and mental retardation, who was found to have early-onset, severe FSHD. Despite the absence of muscle weakness, a Southern blot analysis showed a short D4Z4 repeat on chromosome 4q35. She presented with steroid-resistant nephrotic syndrome, and her renal histopathological findings were severe glomerular endothelial injury, which is a new complication associated with this genetic abnormality...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28717060/clinical-data-analysis-of-genotypes-and-phenotypes-of-deafness-gene-mutations-in-newborns-a-retrospective-study
#16
Yating Du, Lihui Huang, Xueyao Wang, Qingjia Cui, Xiaohua Cheng, Liping Zhao, Tingting Ni
We retrospectively analyzed newborns with deafness gene mutations and summarized the relationship between genotype and phenotype to provide a basis for genetic counseling. We studied 582 subjects positive for deafness gene mutations that were treated in the otology outpatient department of Beijing Tongren Hospital, Capital Medical University, between April 2012 and April 2016. The subjects were divided into 3 categories: a diagnosed group (group A), which was further subdivided into subgroups A1 (homozygous and compound heterozygous GJB2 mutations) and A2 (homozygous and compound heterozygous SLC26A4 mutations); a drug-induced deafness group (group B, mitochondrial (Mt) gene mutations); and a mutation carrier group (group C), which was further subdivided into the subgroups C1 (GJB2 heterozygous mutations), C2 (SLC26A4 heterozygous mutations), C3 (GJB3 heterozygous mutations), and C4 (double gene mutations)...
July 17, 2017: Bioscience Trends
https://www.readbyqxmd.com/read/28714704/planes-of-phenomenological-experience-the-psychology-of-deafness-as-an-early-example-of-american-gestalt-psychology-1928-1940
#17
Marion A Schmidt
When, in 1928, the Clarke School for the Deaf in Northampton, Massachusetts, opened a psychological research division, it was nothing unusual in a time fascinated with the sciences of education. Yet with its longstanding ties to Northampton's Smith College, the school was able to secure the collaboration of eminent Gestalt psychologist Kurt Koffka, who, in turn, engaged 2 more German-speaking emigrants, Margarete Eberhardt and social psychologist Fritz Heider, and Heider's American wife Grace Moore Heider. This collaboration has seen little attention from historians, who have treated Koffka's and Heider's time in Northampton as a transitory phase...
July 17, 2017: History of Psychology
https://www.readbyqxmd.com/read/28712307/deaf-a-concept-analysis-from-a-cultural-perspective-using-the-wilson-method-of-concept-analysis-development
#18
Kathy M Pendergrass, Susan D Newman, Elaine Jones, Carolyn H Jenkins
The purpose of this article is to provide an analysis of the concept Deaf to increase health care provider (HCP) understanding from a cultural perspective. Deaf signers, people with hearing loss who communicate primarily in American Sign Language (ASL), generally define the term Deaf as a cultural heritage. In the health care setting, the term deaf is most often defined as a pathological condition requiring medical intervention. When HCPs are unaware that there are both cultural and pathological views of hearing loss, significant barriers may exist between the HCP and the Deaf individual...
July 1, 2017: Clinical Nursing Research
https://www.readbyqxmd.com/read/28705869/auditory-cortex-interneuron-development-requires-cadherins-operating-hair-cell-mechanoelectrical-transduction
#19
Baptiste Libé-Philippot, Vincent Michel, Jacques Boutet de Monvel, Sébastien Le Gal, Typhaine Dupont, Paul Avan, Christine Métin, Nicolas Michalski, Christine Petit
Many genetic forms of congenital deafness affect the sound reception antenna of cochlear sensory cells, the hair bundle. The resulting sensory deprivation jeopardizes auditory cortex (AC) maturation. Early prosthetic intervention should revive this process. Nevertheless, this view assumes that no intrinsic AC deficits coexist with the cochlear ones, a possibility as yet unexplored. We show here that many GABAergic interneurons, from their generation in the medial ganglionic eminence up to their settlement in the AC, express two cadherin-related (cdhr) proteins, cdhr23 and cdhr15, that form the hair bundle tip links gating the mechanoelectrical transduction channels...
July 13, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28705832/tricellular-junctions-how-to-build-junctions-at-the-trickiest-points-of-epithelial-cells
#20
Tomohito Higashi, Ann L Miller
Tricellular contacts are the places where three cells meet. In vertebrate epithelial cells, specialized structures called tricellular tight junctions (tTJs) and tricellular adherens junctions (tAJs) have been identified. tTJs are important for the maintenance of barrier function, and disruption of tTJ proteins contributes to familial deafness. tAJs have recently been attracting the attention of mechanobiologists because these sites are hot spots of epithelial tension. Although the molecular components, regulation, and function of tTJs and tAJs, as well as of invertebrate tricellular junctions, are beginning to be characterized, many questions remain...
July 15, 2017: Molecular Biology of the Cell
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