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https://www.readbyqxmd.com/read/28549447/the-pre-amputation-pain-and-the-postoperative-deafferentation-are-the-risk-factors-of-phantom-limb-pain-a-clinical-survey-in-a-sample-of-chinese-population
#1
Yan Yin, Lan Zhang, Hong Xiao, Chuan-Bing Wen, Yue-E Dai, Guang Yang, Yun-Xia Zuo, Jin Liu
BACKGROUND: To provide an overview of phantom limb pain (PLP) in China. This includes the prevalence of PLP and possible risk factors. METHODS: In a retrospective study, telephone interviews were conducted with 391 amputation patients who underwent extremity amputations at a tertiary hospital in China. RESULTS: PLP was found in 29% of the amputees. Pre-amputation pain (OR = 10.4, P = 0.002) and postoperative analgesia (OR = 4.9, P = 0...
May 26, 2017: BMC Anesthesiology
https://www.readbyqxmd.com/read/28544110/waardenburg-syndrome-a-rare-cause-of-inherited-neuropathy-due-to-sox10-mutation
#2
Petya Bogdanova-Mihaylova, Michael D Alexander, Raymond Pj Murphy, Sinéad M Murphy
Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy and Hirschsprung disease. Here we report a 32 year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity and intermediate conduction velocity length-dependent sensorimotor neuropathy...
May 22, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28542515/a-novel-frameshift-mutation-of-smpx-causes-a-rare-form-of-x-linked-nonsyndromic-hearing-loss-in-a-chinese-family
#3
Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xuezhong Liu, Lu Jiang
X-linked hearing impairment is the rarest form of genetic hearing loss (HL) and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5) in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls...
2017: PloS One
https://www.readbyqxmd.com/read/28542481/effect-of-hyperbaric-oxygen-on-bdnf-release-and-neuroprotection-investigations-with-human-mesenchymal-stem-cells-and-genetically-modified-nih3t3-fibroblasts-as-putative-cell-therapeutics
#4
Jennifer Schulze, Odett Kaiser, Gerrit Paasche, Hans Lamm, Andreas Pich, Andrea Hoffmann, Thomas Lenarz, Athanasia Warnecke
Hyperbaric oxygen therapy (HBOT) is a noninvasive widely applied treatment that increases the oxygen pressure in tissues. In cochlear implant (CI) research, intracochlear application of neurotrophic factors (NTFs) is able to improve survival of spiral ganglion neurons (SGN) after deafness. Cell-based delivery of NTFs such as brain-derived neurotrophic factor (BDNF) may be realized by cell-coating of the surface of the CI electrode. Human mesenchymal stem cells (MSC) secrete a variety of different neurotrophic factors and may be used for the development of a biohybrid electrode in order to release endogenously-derived neuroprotective factors for the protection of residual SGN and for a guided outgrowth of dendrites in the direction of the CI electrode...
2017: PloS One
https://www.readbyqxmd.com/read/28542017/children-with-single-sided-deafness-use-their-cochlear-implant
#5
Melissa Jane Polonenko, Blake Croll Papsin, Karen Ann Gordon
OBJECTIVES: To assess acceptance of a cochlear implant (CI) by children with single-sided deafness (SSD) as measured by duration of CI use across daily listening environments. DESIGN: Datalogs for 7 children aged 1.1 to 14.5 years (mean ± SD: 5.9 ± 5.9 years old), who had SSD and were implanted in their deaf ear, were anonymized and extracted from their CI processors. Data for all available follow-up clinical appointments were included, ranging from two to six visits...
May 24, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28541453/critical-health-literacy-in-american-deaf-college-students
#6
Poorna Kushalnagar, Claire Ryan, Scott Smith, Raja Kushalnagar
This study investigates the relationship between critical health literacy (CHL) and discussion of health information among college deaf students who use American Sign Language. CHL is crucial in making appropriate health-related decisions for oneself and aiding others in making good health-choices. Research on general youth population shows that frequent health-related discussions with both friends and family is associated with higher health literacy. However, for our sample of deaf college-aged students who might have had less access to communication at home, we hypothesize that health-related discussions with same-age peers may be more important for critical health literacy...
May 24, 2017: Health Promotion International
https://www.readbyqxmd.com/read/28541245/hearing-loss-in-patients-with-extracranial-complications-of-chronic-otitis-media
#7
Tomasz Przewoźny, Jerzy Kuczkowski
OBJECTIVE: A pure tone audiomety analysis of patients with extracranial complications of chronic suppurative otitis media (ECCSOM). MATERIAL AND METHODS: We retrospectively analyzed audiometric data performed before treatment from 63 patients with ECCSOM (56 single, 7 multiple complications) including groups of frequencies. RESULTS: The greatest levels of hearing loss were noted for 6 and 8 kHz (79.0 and 75.7 dBHL) and for the frequency groups high tone average (76...
June 30, 2017: Otolaryngologia Polska
https://www.readbyqxmd.com/read/28540413/a-recessive-mutation-in-beta-iv-spectrin-sptbn4-associates-with-congenital-myopathy-neuropathy-and-central-deafness
#8
Ellen Knierim, Esther Gill, Franziska Seifert, Susanne Morales-Gonzalez, Sathya D Unudurthi, Thomas J Hund, Werner Stenzel, Markus Schuelke
Congenital myopathies are a heterogeneous group of muscle disorders that are often genetically determined. Here, we investigated a boy with congenital myopathy, deafness, and neuropathy from a consanguineous Kurdish family by autozygosity mapping and whole exome sequencing. We found a homozygous nonsense mutation in SPTBN4 [c.1597C>T, NM_020971.2; p.(Q533*), NP_066022.2; ClinVar SUB2292235] encoding βIV-spectrin, a non-erythrocytic member of the β-spectrin family. Western blot confirmed the absence of the full-length 288 kDa isoform in muscle and of a specific 72 kDa isoform in fibroblasts...
May 24, 2017: Human Genetics
https://www.readbyqxmd.com/read/28535131/detection-of-deafness-in-puppies-using-a-hand-held-otoacoustic-emission-screener
#9
Michael H Sims, Erin Plyler, Ashley Harkrider, Karen McLucas
The purpose of this study was to evaluate the use of a hand-held otoacoustic emissions screener to detect deafness in puppies. Specifically, distortion product otoacoustic emissions were recorded from 34 puppies (both sexes) of a variety of breeds, from 6-10 wk of age, and the results were compared to brainstem auditory evoked responses (BAER) recorded from the same puppies. Recordings were obtained from both ears in awake or lightly anesthetized puppies, and the results from each ear were compared. In all 62 ears that had normal BAERs, the distortion product otoacoustic emissions screener gave a response of "Pass...
May 23, 2017: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/28534737/integration-of-tmc1-2-into-the-mechanotransduction-complex-in-zebrafish-hair-cells-is-regulated-by-transmembrane-o-methyltransferase-tomt
#10
Timothy Erickson, Clive P Morgan, Jennifer Olt, Katherine Hardy, Elisabeth M Busch-Nentwich, Reo Maeda, Rachel Clemens-Grisham, Jocelyn F Krey, Alex V Nechiporuk, Peter G Barr-Gillespie, Walter Marcotti, Teresa Nicolson
Transmembrane O-methyltransferase (TOMT / LRTOMT) is responsible for non-syndromic deafness DFNB63. However, the specific defects that lead to hearing loss have not been described. Using a zebrafish model of DFNB63, we show that the auditory and vestibular phenotypes are due to a lack of mechanotransduction (MET) in Tomt-deficient hair cells. GFP-tagged Tomt is enriched in the Golgi of hair cells, suggesting that Tomt might regulate the trafficking of other MET components to the hair bundle. We found that Tmc1/2 proteins are specifically excluded from the hair bundle in tomt mutants, whereas other MET complex proteins can still localize to the bundle...
May 23, 2017: ELife
https://www.readbyqxmd.com/read/28534734/the-impact-of-single-sided-deafness-upon-music-appreciation
#11
Sarah Meehan, Elizabeth A Hough, Gemma Crundwell, Rachel Knappett, Mark Smith, David M Baguley
BACKGROUND: Many of the world's population have hearing loss in one ear; current statistics indicate that up to 10% of the population may be affected. Although the detrimental impact of bilateral hearing loss, hearing aids, and cochlear implants upon music appreciation is well recognized, studies on the influence of single-sided deafness (SSD) are sparse. PURPOSE: We sought to investigate whether a single-sided hearing loss can cause problems with music appreciation, despite normal hearing in the other ear...
May 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28534117/a-multicenter-study-on-objective-and-subjective-benefits-with-a-transcutaneous-bone-anchored-hearing-aid-device-first-nordic-results
#12
Dan Dupont Hougaard, Soren Kjaergaard Boldsen, Anne Marie Jensen, Soren Hansen, Per Cayé Thomassen
Examination of objective as well as subjective outcomes with a new transcutaneous bone-anchored hearing aid device. The study was designed as a prospective multicenter consecutive case-series study involving tertiary referral centers at two Danish University Hospitals. A total of 23 patients were implanted. Three were lost to follow-up. Patients had single-sided deafness, conductive or mixed hearing loss. INTERVENTION: Rehabilitative. Aided and unaided sound field hearing was evaluated objectively using (1) pure warble tone thresholds, (2) pure-tone average (PTA4), (3) speech discrimination score (SDS) in quiet, and (4) speech reception threshold 50% at 70 dB SPL noise level (SRT50%)...
May 22, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28534045/compound-heterozygous-mutations-in-masp1-in-a-deaf-child-with-absent-cochlear-nerves
#13
Elina Kari, Isabelle Schrauwen, Lorida Llaci, Laurel M Fisher, John L Go, Marcus Naymik, James A Knowles, Matthew J Huentelman, Rick A Friedman
No abstract text is available yet for this article.
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28534044/hsp-and-deafness-neurocristopathy-caused-by-a-novel-mosaic-sox10-mutation
#14
Sandra Donkervoort, Diana Bharucha-Goebel, Pomi Yun, Ying Hu, Payam Mohassel, Ahmet Hoke, Wadih M Zein, Daniel Ezzo, Andrea M Atherton, Ann C Modrcin, Majed Dasouki, A Reghan Foley, Carsten G Bönnemann
OBJECTIVE: To identify the underlying genetic cause in 2 sisters affected with progressive lower extremity spasticity, neuropathy, and early-onset deafness. METHODS: Whole-exome sequencing was performed, and segregation testing of variants was investigated using targeted Sanger sequencing. An inherited paternal mosaic mutation was further evaluated through quantitative analysis of the ratio of mutant vs wild-type allele in genomic DNA from various tissues, including blood, dermal fibroblasts, and saliva...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28532627/regenerative-medicine-in-hearing-recovery
#15
REVIEW
Edi Simoni, Giulia Orsini, Milvia Chicca, Simone Bettini, Valeria Franceschini, Alessandro Martini, Laura Astolfi
Hearing loss, or deafness, affects 360 million people worldwide of which about 32 million are children. Deafness is irreversible when it involves sensory hair cell death because the regenerative ability of these cells is lost in mammals after embryo development. The therapeutic strategies for deafness include hearing aids and/or implantable devices. However, not all patients are eligible or truly benefit from these medical devices. Regenerative medicine based on stem cell application could play a role in both improvement of extant medical devices and in vivo recovery of auditory function by regeneration of inner ear cells and neurons...
May 19, 2017: Cytotherapy
https://www.readbyqxmd.com/read/28532582/pain-in-early-stage-parkinson-s-disease-implications-from-clinical-features-to-pathophysiology-mechanisms
#16
REVIEW
Ming-Tsung Tseng, Chin-Hsien Lin
Pain is a common non-motor symptom of Parkinson's disease (PD) that markedly impacts patients' quality of life. Although pain occurs mostly secondary to motor disability of PD, pain may antedate motor symptoms by years. Numerous studies have shown that PD patients manifest altered sensory and pain thresholds compared with control subjects. Although both levodopa and deep brain stimulation improve motor symptoms, there remains no direct correlation between motor improvement and altered pain sensitivity, suggesting that motor symptoms and pain do not necessarily share pathogenetic mechanisms...
May 19, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28531343/job-satisfaction-of-teachers-of-students-who-are-deaf-or-hard-of-hearing
#17
John L Luckner, Brittany Dorn
The pressure that educators are experiencing to educate more students, with more challenges, to higher levels of learning than any time in the past is significantly changing their working conditions. The purpose of this study was to examine the perceptions of a national sample of teachers of students who are deaf or hard of hearing to ascertain their overall job satisfaction as well as to identify the specific factors that positively and negatively affect their ability to do their jobs well. In addition, responses of different subsets of teachers (e...
May 20, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/28530663/a-cerebellum-like-circuit-in-the-auditory-system-cancels-responses-to-self-generated-sounds
#18
Shobhit Singla, Conor Dempsey, Richard Warren, Armen G Enikolopov, Nathaniel B Sawtell
The dorsal cochlear nucleus (DCN) integrates auditory nerve input with a diverse array of sensory and motor signals processed in circuitry similar to that of the cerebellum. Yet how the DCN contributes to early auditory processing has been a longstanding puzzle. Using electrophysiological recordings in mice during licking behavior, we show that DCN neurons are largely unaffected by self-generated sounds while remaining sensitive to external acoustic stimuli. Recordings in deafened mice, together with neural activity manipulations, indicate that self-generated sounds are cancelled by non-auditory signals conveyed by mossy fibers...
May 22, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28530512/deaflympians-satisfaction-with-athletic-training-services-at-the-2013-deaflympic-summer-games
#19
Matthew Paul Brancaleone, René Revis Shingles, Nailya DeLellis
CONTEXT:   Athletic trainers have the opportunity to treat unique populations. Determining athletes' satisfaction with the athletic training services supplied can offer insights into how to improve the health care provided to athletes. OBJECTIVE:   To explore Deaflympians' satisfaction with athletic training services at the 2013 Deaflympic Summer Games. DESIGN:   Cross-sectional survey. SETTING:   The 2013 Deaflympic Summer Games in Sofia, Bulgaria...
May 22, 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/28529479/in-patients-undergoing-cochlear-implantation-psychological-burden-affects-tinnitus-and-the-overall-outcome-of-auditory-rehabilitation
#20
Petra Brüggemann, Agnieszka J Szczepek, Katharina Klee, Stefan Gräbel, Birgit Mazurek, Heidi Olze
Cochlear implantation (CI) is increasingly being used in the auditory rehabilitation of deaf patients. Here, we investigated whether the auditory rehabilitation can be influenced by the psychological burden caused by mental conditions. Our sample included 47 patients who underwent implantation. All patients were monitored before and 6 months after CI. Auditory performance was assessed using the Oldenburg Inventory (OI) and Freiburg monosyllable (FB MS) speech discrimination test. The health-related quality of life was measured with Nijmegen Cochlear implantation Questionnaire (NCIQ) whereas tinnitus-related distress was measured with the German version of Tinnitus Questionnaire (TQ)...
2017: Frontiers in Human Neuroscience
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