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https://www.readbyqxmd.com/read/28646750/phonological-and-orthographic-coding-in-deaf-skilled-readers
#1
Noemi Fariña, Jon Andoni Duñabeitia, Manuel Carreiras
Written language is very important in daily life. However, most deaf people do not achieve good reading levels compared to their hearing peers. Previous research has mainly focused on their difficulties when reading in a language with an opaque orthography such as English. In the present study, we investigated visual word recognition of deaf adult skilled readers while reading in Spanish, a language with a transparent orthography, for which obligatory phonological mediation has been claimed. Experiment 1 showed a pseudohomophone inhibitory effect in hearing but not in deaf people...
June 21, 2017: Cognition
https://www.readbyqxmd.com/read/28643417/congenital-deafness-affects-deep-layers-in-primary-and-secondary-auditory-cortex
#2
Christoph Berger, Daniela Kühne, Verena Scheper, A Kral
Congenital deafness leads to functional deficits in the auditory cortex for which early cochlear implantation can effectively compensate. Most of these deficits have been demonstrated functionally. Furthermore, the majority of previous studies on deafness have involved the primary auditory cortex; knowledge of higher-order areas is limited to effects of cross-modal reorganization. In this study, we compared the cortical cytoarchitecture of four cortical areas in adult hearing and congenitally deaf cats (CDCs): the primary auditory field A1, two secondary auditory fields, namely the dorsal zone (DZ) and second auditory field (A2); and a reference visual association field (area 7) in the same section stained either using Nissl or SMI-32 antibodies...
June 23, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28642064/the-genetic-basis-of-deafness-in-populations-of-african-descent
#3
REVIEW
Jason R Rudman, Rosemary I Kabahuma, Sara E Bressler, Yong Feng, Susan H Blanton, Denise Yan, Xue-Zhong Liu
Hearing loss is the most common sensorineural disorder worldwide and is associated with more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 (gap-junction protein β 2) and GJB6 (gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations...
May 6, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28640090/efficiency-of-microarray-and-snpscan-for-the-detection-of-hearing-loss-gene-in-71-cases-with-nonsyndromic-hearing-loss
#4
Rui Han, Linge Li, Ling Duan, Yan Xia, Pilidong Kuyaxi, Juan Zhao, Qi Zhao, Hua Zhang, Yu Chen
We aim to screen the mutations of 3 hearing loss (HL) genes (GJB2, SLC26A4, and 12S rRNA) in 71 cases with nonsyndromic hearing loss (NSHL) using microarray and SNPscan, and identify the roles of nonhotspot mutation of these genes in the screening of NSHL. Seventy-one cases with moderate or severe neurosensory deafness confirmed in our department from July 2014 to December 2015 including 25 Uyghur minorities and 46 Han Chinese were included in this study. The type of mutations in GJB2, SLC26A4, and 12S rRNA genes were detected using microarray and SNPscan, respectively...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28639104/gene-mutations-and-clinical-phenotypes-in-chinese-children-with-blau-syndrome
#5
Caifeng Li, Junmei Zhang, Shipeng Li, Tongxin Han, Weiying Kuang, Yifang Zhou, Jianghong Deng, Xiaohua Tan
The mutations of CARD15 gene and clinical features of Chinese patients with Blau syndrome were analyzed. We identified 10 missense mutations, out of which five were new: R334L, E383D, R471C, C495R and D512F. The rest of them, R334W, R334Q, G481D, M513T and R587C, have been reported previously. Among all the mutations, R334W, R334Q and C495R had the highest frequency. Blau syndrome was found at early age after birth. It began with lepidic rash and symmetric polyarthritis and was phenotypically characterized by typical rash, arthritis, iridocyclitis and arteritis...
June 16, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28637621/gata2-deficiency-and-related-myeloid-neoplasms
#6
Marcin W Wlodarski, Matthew Collin, Marshall S Horwitz
The GATA2 gene codes for a hematopoietic transcription factor that through its two zinc fingers (ZF) can occupy GATA-DNA motifs in a countless number of genes. It is crucial for the proliferation and maintenance of hematopoietic stem cells. During the past 5 years, germline heterozygous mutations in GATA2 were reported in several hundred patients with various phenotypes ranging from mild cytopenia to severe immunodeficiency involving B cells, natural killer cells, CD4(+) cells, monocytes and dendritic cells (MonoMAC/DCML), and myeloid neoplasia...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28637160/energy-producing-electro-flocculation-for-harvest-of-dunaliella-salina
#7
Qing Liu, Meng Zhang, Tao Lv, Hongjun Chen, Anthony Okonkwo Chika, Changli Xiang, Minxue Guo, Minghui Wu, Jianjun Li, Lishan Jia
In this study, an efficient electro-flocculation process for Dunaliella salina with energy production by aluminum-air battery has been successfully applied. The formed aluminum hydroxide hydrates during discharging of battery were positively charged, which have a great potential for microalgae flocculation. The precipitation of aluminum hydroxide hydrates by algae also could improve the performance of aluminum-air battery. The harvesting efficiency could reach 97% in 20mins with energy production of 0.11kWh/kg...
June 1, 2017: Bioresource Technology
https://www.readbyqxmd.com/read/28635507/cochlear-implant-effectiveness-in-postlingual-single-sided-deaf-individuals-what-s-the-point
#8
Mareike Finke, Hanna Bönitz, Björn Lyxell, Angelika Illg
OBJECTIVES: By extending the indication criteria for cochlear implants (CI), the population of CI candidates increased in age, as well as range and type of hearing loss. This qualitative study identified factors that contributed to seek CI treatment in single-sided deaf individuals and gained insights how single-sided deafness (SSD) and hearing with a CI affect their lives. DESIGN: An open-ended questionnaire and a standardised inventory (IOI-HA) were used. Qualitative data reflecting the reasons to seek CI treatment and the individual experiences after CI switch-on were collected...
March 5, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28635225/-modification-factors-associated-with-maternally-inherited-non-syndromic-hearing-loss
#9
W J Hong, B J Zheng, J F Qian, H Wu, H Jin, Y T Zhu
Mutations in the mitochondrial DNA have been certified to be one of the most important causes of maternally inherited sensorineural hearing loss. Among these, mitochondrial 12S rRNA1555A>G, 1494C>T and other mutations are associated with both nonsyndromic and drug induced hearing loss caused by aminoglycosides. Individuals carrying 1555A>G or 1494C>T mutation have a variety of clinical manifestations, which implies that the 1555A>G or 1494C>T mutation is a chief factor underlying the development of deafness but insufficient to produce the clinical phenotype...
June 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28632987/the-usher-syndrome-type-iiib-histidyl-trna-synthetase-mutation-confers-temperature-sensitivity
#10
Jamie A Abbott, Ethan Guth, Cindy Kim, Cathy Regan, Victoria M Siu, Charles Anthony Rupar, Borries Demeler, Christopher S Francklyn, Susan M Robey-Bond
Histidyl-tRNA synthetase (HARS) is a highly conserved translation factor that plays an essential role in protein synthesis. HARS has been implicated in the human syndromes Charcot-Marie-Tooth (CMT) Type 2W and Type IIIB Usher (USH3B). The USH3B mutation, which encodes an Y454S substitution in HARS, is inherited in an autosomal recessive fashion and associated with childhood deafness, blindness and episodic hallucinations during acute illness. The biochemical basis of the pathophysiologies linked to USH3B is currently unknown...
June 20, 2017: Biochemistry
https://www.readbyqxmd.com/read/28630650/a-maternally-inherited-8-05%C3%A2-mb-xq21-deletion-associated-with-choroideremia-deafness-and-mental-retardation-syndrome-in-a-male-patient
#11
Siying Liang, Nan Jiang, Shuo Li, Xiaohu Jiang, Dongyi Yu
BACKGROUND: Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Until now only a limited number of patients with Xq21 deletions has been reported. CASE PRESENTATION: Here we describe a 17-year-old male with choroideremia, deafness, and mental retardation syndrome. Using SNP arrays, an 8.05 Mb deletion in Xq21 was identified inherited from the apparently healthy mother...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28628635/cross-resistance-and-synergism-bioassays-suggest-multiple-mechanisms-of-pyrethroid-resistance-in-western-corn-rootworm-populations
#12
Adriano E Pereira, Dariane Souza, Sarah N Zukoff, Lance J Meinke, Blair D Siegfried
Recently, resistance to the pyrethroid bifenthrin was detected and confirmed in field populations of western corn rootworm, Diabrotica virgifera virgifera LeConte from southwestern areas of Nebraska and Kansas. As a first step to understand potential mechanisms of resistance, the objectives of this study were i) to assess adult mortality at diagnostic concentration-LC99 to the pyrethroids bifenthrin and tefluthrin as well as DDT, ii) estimate adult and larval susceptibility to the same compounds as well as the organophosphate methyl-parathion, and iii) perform synergism experiments with piperonyl butoxide (PBO) (P450 inhibitor) and S,S,S-tributyl-phosphorotrithioate (DEF) (esterase inhibitor) in field populations...
2017: PloS One
https://www.readbyqxmd.com/read/28626432/visible-social-interactions-do-not-support-the-development-of-false-belief-understanding-in-the-absence-of-linguistic-input-evidence-from-deaf-adult-homesigners
#13
Deanna L Gagne, Marie Coppola
Congenitally deaf individuals exhibit enhanced visuospatial abilities relative to normally hearing individuals. An early example is the increased sensitivity of deaf signers to stimuli in the visual periphery (Neville and Lawson, 1987a). While these enhancements are robust and extend across a number of visual and spatial skills, they seem not to extend to other domains which could potentially build on these enhancements. For example, congenitally deaf children, in the absence of adequate language exposure and acquisition, do not develop typical social cognition skills as measured by traditional Theory of Mind tasks...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28623039/the-acoustic-characteristics-of-the-voice-in-cochlear-implanted-children-a-longitudinal-study
#14
Yajing Wang, Faya Liang, Jinshan Yang, Xueyuan Zhang, Jiahao Liu, Yiqing Zheng
OBJECTIVE: The purpose of this study was to characterize changes in the voice and vowel articulation of prelingually deaf children after cochlear implantation. METHODS: In this study, the patient group included 30 prelingually deaf children who underwent unilateral cochlear implantation at 4-6 years of age. The control group included normally hearing children of the same age. All deaf children had follow-ups before cochlear implantation and at 1, 3, 6, 12, and 24 months after implantation...
June 13, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28621418/single-cell-analysis-of-the-inner-ear-sensory-organs
#15
Ofer Yizhar-Barnea, Karen B Avraham
The inner ear is composed of a complex mixture of cells, which together allow organisms to hear and maintain balance. The cells in the inner ear, which undergo an extraordinary process of development, have only recently begun to be studied on an individual level. As it has recently become clear that individual cells, previously considered to be of uniform character, may differ dramatically from each other, the need to study cell-to-cell variation, along with distinct transcriptional and regulatory signatures, has taken hold in the scientific community...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28619607/revisiting-syntactic-development-in-deaf-and-hearing-children-from-a-dependency-approach-comment-on-dependency-distance-a-new-perspective-on-syntactic-patterns-in-natural-languages-by-haitao-liu-et-al
#16
https://www.readbyqxmd.com/read/28618809/binaural-sensitivity-in-children-who-use-bilateral-cochlear-implants
#17
Erica Ehlers, Matthew J Goupell, Yi Zheng, Shelly P Godar, Ruth Y Litovsky
Children who are deaf and receive bilateral cochlear implants (BiCIs) perform better on spatial hearing tasks using bilateral rather than unilateral inputs; however, they underperform relative to normal-hearing (NH) peers. This gap in performance is multi-factorial, including the inability of speech processors to reliably deliver binaural cues. Although much is known regarding binaural sensitivity of adults with BiCIs, less is known about how the development of binaural sensitivity in children with BiCIs compared to NH children...
June 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28616898/smoking-and-the-eye-what-qu%C3%A3-bec-teenagers-know-and-fear
#18
Julie Brûlé, Benoît Tousignant, Stéphanie Marcotte, Marie-Christelle Moreau
BACKGROUND: Although most people associate smoking with lung cancer and heart disease, few are aware of the impact of smoking on ocular health. Studies have suggested a better knowledge of this association might promote higher quit rates, particularly in teenagers. The purpose of our study was to determine the knowledge of teenagers about the effects of smoking on ocular health and the fear associated with several tobacco-related health conditions. METHODS: A self-administered questionnaire was distributed to 180 high school students aged 14 to 17 years...
June 14, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/28616232/treatment-of-sudden-hearing-loss-using-electro-acupuncture
#19
Ya-Ching Chang, Kwok-Ying Chan
OBJECTIVES: Sudden neurosensory deafness is the second debilitating disease in China. In fact, the current treatment is limited to hearing aids, assistive devices and cochlear implants. However, some patients might not be suitable for surgery or even hearing aids. METHODS: Hereby, we report a pediatric case of sudden sensorineural hearing loss accompanied by otalgia and blocked ear sensation. RESULTS: He firstly failed with conventional treatment but later his hearing symptoms were improved with our electro-acupuncture therapy according to pure tone audiometry findings and clinical responses...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28615054/end-stage-kidney-disease-in-patient-with-epidermolysis-bullosa-what-are-the-treatment-options-case-report
#20
Michał Małecki, Maciej Domański, Kazimierz Ciechanowski
BACKGROUND: Epidermolysis bullosa is a group of diseases caused by mutations in genes for proteins responsible for cells' anchorage at the dermo-epidermal junction. Their common feature are dysfunctional or even absent connections between cells. The typical clinical sign is the formation of blisters, with possible excessive scarring, in response to minimal skin irritation. End stage renal disease may be one of the comorbidities in patients with epidermolysis bullosa. The implementation of renal replacement therapy may be very difficult in this population...
June 14, 2017: BMC Nephrology
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