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https://www.readbyqxmd.com/read/28107219/do-neurocognitive-scat3-baseline-test-scores-differ-between-footballers-soccer-living-with-and-without-disability-a-cross-sectional-study
#1
Richard Weiler, Willem van Mechelen, Colin Fuller, Osman Hassan Ahmed, Evert Verhagen
OBJECTIVE: To determine if baseline Sport Concussion Assessment Tool, third Edition (SCAT3) scores differ between athletes with and without disability. DESIGN: Cross-sectional comparison of preseason baseline SCAT3 scores for a range of England international footballers. SETTING: Team doctors and physiotherapists supporting England football teams recorded players' SCAT 3 baseline tests from August 1, 2013 to July 31, 2014. PARTICIPANTS: A convenience sample of 249 England footballers, of whom 185 were players without disability (male: 119; female: 66) and 64 were players with disability (male learning disability: 17; male cerebral palsy: 28; male blind: 10; female deaf: 9)...
January 17, 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/28103015/antimicrobial-activity-ame-resistance-and-translation-inhibition-studies-of-anthraquinone-neomycin-conjugates
#2
Natalya N Degtyareva, Changjun Gong, Sandra Story, Nathanael Levinson, Adegboyega K Oyelere, Keith D Green, Sylvie Garneau-Tsodikova, Dev Priya Arya
The antibacterial effects of aminoglycosides are based on their association with the A-site of bacterial ribosomal RNA and interference with the translational process in the bacterial cell, causing cell death. The clinical use of aminoglycosides is complicated by resistance and side effects, some of which arise from their interactions with the human mitochondrial 12S rRNA and its deafness-associated mutations, C1494U and A1555G. We report a rapid assay that allows screening of aminoglycoside compounds to these classes of rRNAs...
January 19, 2017: ACS Infectious Diseases
https://www.readbyqxmd.com/read/28102624/partial-monosomy-of-10p-and-duplication-of-another-chromosome-in-two-patients
#3
Sayaka Ohta, Tsuyoshi Isojima, Yoko Mizuno, Motohiro Kato, Masakazu Mimaki, Masafumi Seki, Yusuke Sato, Seishi Ogawa, Junko Takita, Sachiko Kitanaka, Akira Oka
Partial monosomy of 10p is a rare chromosomal abnormality. Common features are hypoparathyroidism, deafness, renal anomalies, distinctive facies, and mental retardation, with phenotypic variability. We report two patients with chromosomal abnormalities identified on single-nucleotide polymorphism (SNP) array analysis. Although patient 1 had common features of monosomy10p, G-banding indicated a normal karyotype. SNP array and fluorescence in situ hybridization (FISH), however, indicated unbalanced translocation of a 10p terminal deletion of 11...
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28100557/dual-sensory-impairment-in-special-schools-in-south-eastern-nigeria
#4
Ada E Aghaji, Richard Bowman, Vincent C Ofoegbu, Andrew Smith
In a cross-sectional study to determine the magnitude of dual sensory impairment (DSI-combined hearing and vision loss) in children in single-disability special education schools, children in schools for the blind and schools for the deaf in four states in South-East Nigeria were examined by an ophthalmologist and otorhinolaryngologist to determine the level of their disability and to identify other disabilities if any. Participants were all students with childhood blindness or childhood deafness. The magnitude and causes of DSI and the burden of undetected DSI were the main outcome measures...
February 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28099493/different-phenotypes-of-the-two-chinese-probands-with-the-same-c-889g-a-p-c162y-mutation-in-coch-gene-verify-different-mechanisms-underlying-autosomal-dominant-nonsyndromic-deafness-9
#5
Qi Wang, Peipei Fei, Hongbo Gu, Yanmei Zhang, Xiaomei Ke, Yuhe Liu
OBJECTIVES: By analyzing the different phenotypes of two Chinese DFNA9 families with the same mutation located in the intervening region between the LCCL and vWFA domains of cochlin and testing the functional changes in the mutant cochlin, we investigated the different pathogeneses for mutations in LCCL and vWFA domains. METHODS: Targeted next-generation sequencing for deafness-related genes was used to identify the mutation in the proband in family #208. The probands of family #208 and family #32 with the same p...
2017: PloS One
https://www.readbyqxmd.com/read/28097979/-this-diagnosis-can-be-extremely-scary
#6
Tamsin Newton-Snow
Neurofibromatosis type 2 (NF2) is a rare genetic disorder that occurs in an estimated one in 35,000 people. The condition is often life-limiting and involves tumours growing on the nervous system, typically on the hearing nerves, brain and spine. While the tumours are mainly benign, they can lead to hearing loss, deafness and problems with balance and mobility. Most patients will need surgery or other treatments for NF2-related brain or spinal cord tumours at some point in their lives.
January 18, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28092344/choriocapillaris-signal-voids-in-maternally-inherited-diabetes-and-deafness-and-in-pseudoxanthoma-elasticum
#7
Richard F Spaide
PURPOSE: To evaluate the pattern of choriocapillaris signal voids in maternally inherited diabetes and deafness and in pseudoxanthoma elasticum in eyes before the development of any geographic atrophy. METHODS: The choriocapillaris under the central macula was imaged with the Optovue RTVue XR Avanti using a 10 μm slab thickness. Automatic local thresholding of the resultant raw data extracted areas of absent flow signal, called signal voids, and these were counted and logarithmically binned...
January 13, 2017: Retina
https://www.readbyqxmd.com/read/28089922/x-linked-elliptocytosis-with-impaired-growth-is-related-to-mutated-ammecr1
#8
Lina Basel-Vanagaite, Nir Pillar, Ofer Isakov, Pola Smirin-Yosef, Irina Lagovsky, Naama Orenstein, Mali Salmon-Divon, Hannah Tamary, Tami Zaft, Lily Bazak, Joseph Meyerovitch, Tal Pelli, Shay Botchan, Luba Farberov, Daphna Weissglas, Noam Shomron
In this study, we report a family with X-linked recessive syndrome caused by mutated AMMECR1 and characterized by elliptocytosis with or without anemia, midface hypoplasia, proportionate short stature and hearing loss. Recently, mutations in AMMECR1 were reported in two maternal half-brothers, presenting with nephrocalcinosis, midface hypoplasia and, in one of the siblings, deafness and elliptocytosis. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex)...
January 9, 2017: Gene
https://www.readbyqxmd.com/read/28087418/degeneration-of-auditory-nerve-fibers-in-guinea-pigs-with-severe-sensorineural-hearing-loss
#9
Steven Kroon, Dyan Ramekers, Emma M Smeets, Ferry G J Hendriksen, Sjaak F L Klis, Huib Versnel
Damage to and loss of the organ of Corti leads to secondary degeneration of the spiral ganglion cell (SGC) somata of the auditory nerve. Extensively examined in animal models, this degeneration process of SGC somata following deafening is well known. However, degeneration of auditory nerve axons, which conduct auditory information towards the brainstem, and its relation to SGC soma degeneration are largely unknown. The consequences of degeneration of the axons are relevant for cochlear implantation, which is applied to a deafened system but depends on the condition of the auditory nerve...
January 10, 2017: Hearing Research
https://www.readbyqxmd.com/read/28087208/-child-langerhans-cell-histiocytosis
#10
Jean Donadieu, Sébastien Héritier
DEFINITION: Langerhans cell histiocytosis (LCH) is defined by the association of a clinical and radiological involvement and a biopsy of a pathological tissue. Extension: it can affect any organ or system of the body but most commonly the bone (80% of cases), the skin (33%) and the pituitary (25%). Other organs are concerned such as liver, spleen, hematopoietic system and the lungs (15% each), lymph nodes (5-10%) and central nervous system (CNS) excluding the pituitary (2-4%). Natural history: the natural history of the disease is very heterogeneous, ranging from auto-regressive lesions to a disease affecting multiple organs with fatal consequences, while some lesions may be responsible for permanent sequels...
January 10, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28077706/connexin-mediated-signaling-in-nonsensory-cells-is-crucial-for-the-development-of-sensory-inner-hair-cells-in-the-mouse-cochlea
#11
Stuart L Johnson, Federico Ceriani, Oliver Houston, Roman Polishchuk, Elena Polishchuk, Giulia Crispino, Veronica Zorzi, Fabio Mammano, Walter Marcotti
: Mutations in the genes encoding for gap junction proteins connexin 26 (Cx26) and connexin 30 (Cx30) have been linked to syndromic and nonsyndromic hearing loss in mice and humans. The release of ATP from connexin hemichannels in cochlear nonsensory cells has been proposed to be the main trigger for action potential activity in immature sensory inner hair cells (IHCs), which is crucial for the refinement of the developing auditory circuitry. Using connexin knock-out mice, we show that IHCs fire spontaneous action potentials even in the absence of ATP-dependent intercellular Ca(2+) signaling in the nonsensory cells...
January 11, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28076344/qualitative-aspects-of-the-process-of-neonatal-hearing-screening-program-in-mexico-evaluated-from-the-parental-perspective
#12
Maria Del Consuelo Martínez Wbaldo, María de Los Ángeles Torres Lagunas
INTRODUCTION: The Universal Newborn Hearing Screening Program in Mexico began in 2010. Its results, published in 2013 by the National Council for the Development and Inclusion of Persons with Disabilities (CONADIS), report low coverage and, currently, there is a dearth of information about its activities. This study describes the process of the program from the epistemological perspective of women whose children participated in the program, evaluating it under the sustenance of the constructivist-respondent model in search of aspects that could help explain its results...
December 12, 2016: Medwave
https://www.readbyqxmd.com/read/28074754/legal-and-ethical-imperatives-for-using-certified-sign-language-interpreters-in-health-care-settings-how-to-do-no-harm-when-it-s-all-greek-sign-language-to-you
#13
Angela M Nonaka
Communication obstacles in health care settings adversely impact patient-practitioner interactions by impeding service efficiency, reducing mutual trust and satisfaction, or even endangering health outcomes. When interlocutors are separated by language, interpreters are required. The efficacy of interpreting, however, is constrained not just by interpreters' competence but also by health care providers' facility working with interpreters. Deaf individuals whose preferred form of communication is a signed language often encounter communicative barriers in health care settings...
September 1, 2016: Care Management Journals: Journal of Case Management ; the Journal of Long Term Home Health Care
https://www.readbyqxmd.com/read/28074389/cochlear-epithelial-of-dog-fetuses-a-new-source-of-multipotent-stem-cells
#14
Ana Carolina M Santos, Jéssica Borghesi, Lara Carolina Mario, Adriana Raquel A Anunciação, Andrea Maria Mess, Ana Claudia O Carreira, Phelipe O Favaron, Maria Angélica Miglino
Hearing loss caused by the damage of cochlea sensory cells or neurons is a common human disease, but also affects dogs and other animals. To test their progenitor nature as potential value for future therapies, we characterized cells derived from the cochlear epithelium in dog fetuses. In total, 8 fetuses of 35-40 days of gestation, derived from castration campaigns, were investigated. Cells were analysed by the MTT colorimetric assay and in regard to cell cycle, differentiation capacities, immunophenotypes and qPCR analysis...
January 10, 2017: Cytotechnology
https://www.readbyqxmd.com/read/28073077/hypertext-comprehension-of-deaf-and-hard-of-hearing-students-and-students-with-specific-language-impairment
#15
Helen Blom, Eliane Segers, Daan Hermans, Harry Knoors, Ludo Verhoeven
This paper provides insight into the reading comprehension of hierarchically structured hypertexts within D/HH students and students with SLI. To our knowledge, it is the first study on hypertext comprehension in D/HH students and students with SLI, and it also considers the role of working memory. We compared hypertext versus linear text comprehension in D/HH students and students with SLI versus younger students without language problems who had a similar level of decoding and vocabulary. The results demonstrated no difference in text comprehension between the hierarchically structured hypertext and the linear text...
January 7, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28069964/task-specific-reorganization-of-the-auditory-cortex-in-deaf-humans
#16
Łukasz Bola, Maria Zimmermann, Piotr Mostowski, Katarzyna Jednoróg, Artur Marchewka, Paweł Rutkowski, Marcin Szwed
The principles that guide large-scale cortical reorganization remain unclear. In the blind, several visual regions preserve their task specificity; ventral visual areas, for example, become engaged in auditory and tactile object-recognition tasks. It remains open whether task-specific reorganization is unique to the visual cortex or, alternatively, whether this kind of plasticity is a general principle applying to other cortical areas. Auditory areas can become recruited for visual and tactile input in the deaf...
January 9, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28068302/first-report-linear-incision-for-placement-of-a-magnetically-coupled-bone-anchored-hearing-implant
#17
Jonnae Y Barry, Saranya Reghunathan, Abraham Jacob
OBJECTIVES: Discuss use of a linear incision for placement of a magnetically coupled bone anchored hearing implant. METHODS: Case series. RESULTS: Two patients underwent placement of magnetically coupled bone-anchored hearing implants (BAHI) through linear incisions. The first, a 40-year-old female with congenital single-sided deafness, previously had successful implantation of a percutaneous bone anchored hearing implant through a linear incision; unfortunately, she developed pain and intermittent drainage at her abutment site with time, resulting in a request for removal of her device...
February 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28067750/unilateral-hearing-loss-understanding-speech-recognition-and-localization-variability-implications-for-cochlear-implant-candidacy
#18
Jill B Firszt, Ruth M Reeder, Laura K Holden
OBJECTIVES: At a minimum, unilateral hearing loss (UHL) impairs sound localization ability and understanding speech in noisy environments, particularly if the loss is severe to profound. Accompanying the numerous negative consequences of UHL is considerable unexplained individual variability in the magnitude of its effects. Identification of covariables that affect outcome and contribute to variability in UHLs could augment counseling, treatment options, and rehabilitation. Cochlear implantation as a treatment for UHL is on the rise yet little is known about factors that could impact performance or whether there is a group at risk for poor cochlear implant outcomes when hearing is near-normal in one ear...
November 4, 2016: Ear and Hearing
https://www.readbyqxmd.com/read/28067622/a-homozygous-fitm2-mutation-causes-a-deafness-dystonia-syndrome-with-motor-regression-and-signs-of-ichthyosis-and-sensory-neuropathy
#19
Celia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P van de Warrenburg, Chiea Chuen Khor, Martin C Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals...
December 15, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28063244/single-sided-deafness-affects-language-and-auditory-development-a-case-control-study
#20
Anouk Sangen, Liesbeth Royackers, Christian Desloovere, Jan Wouters, Astrid van Wieringen
OBJECTIVES: To examine auditory, linguistic and cognitive outcomes of children with single sided deafness (SSD). An increasing body of research suggests that children with SSD lag behind with respect to their normal hearing (NH) peers. In the present study we tap into certain developmental skills. DESIGN: Case-control study. PARTICIPANTS: 21 children with SSD between 5 and 15 years of age participated. Per child with SSD two NH control children were matched on age and gender...
January 7, 2017: Clinical Otolaryngology
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