Sensitive period for white-matter connectivity of superior temporal cortex in deaf people.

PubMed

Li, Yanyan; Ding, Guosheng; Booth, James R; Huang, Ruiwang; Lv, Yating; Zang, Yufeng; He, Yong; Peng, Danling

2012-02-01

Previous studies have shown that white matter in the deaf brain changes due to hearing loss. However, how white-matter development is influenced by early hearing experience of deaf people is still unknown. Using diffusion tensor imaging and tract-based spatial statistics, we compared white-matter structures among three groups of subjects including 60 congenitally deaf individuals, 36 acquired deaf (AD) individuals, and 38 sex- and age-matched hearing controls (HC). The result showed that the deaf individuals had significantly reduced fractional anisotropy (FA) values in bilateral superior temporal cortex and the splenium of corpus callosum compared to HC. The reduction of FA values in acquired deafness correlated with onset age of deafness, but not the duration of deafness. To explore the underlying mechanism of FA changes in the deaf groups, we further analyzed radial and axial diffusivities and found that (1) the reduced FA values in deaf individuals compared to HC is primarily driven by higher radial diffusivity values and (2) in the AD, higher radial diffusivity was correlated with earlier onset age of deafness, but not the duration of deafness. These findings imply that early sensory experience is critical for the growth of fiber myelination, and anatomical reorganization following auditory deprivation is sensitive to early plasticity in the brain. Copyright © 2010 Wiley Periodicals, Inc.

The effect of congenital deafness on duration judgment.

PubMed

Kowalska, Joanna; Szelag, Elzbieta

2006-09-01

Congenital deafness provides the opportunity to study how atypical sensory and language experiences affect different aspects of information processing, e.g., time perception. Using two methods of temporal estimation, reproduction (Exp. 1) and production (Exp. 2), the effect of deafness on duration judgment was investigated within a time domain of a few seconds. We examined 16 congenitally deaf adolescents, aged between 16 and 19 years, and 16 normally hearing subjects, matched for gender and age. In Exp. 1 subjects were asked to reproduce durations from 1 to 5.5 s, whereas in Exp. 2 they produced durations from 1 to 6 s. The results showed that in both experiments, the region of accurate estimation was significantly limited in deaf individuals, compared to normal hearing ones. Deaf adolescents judged accurately only intervals around 3 s, whereas they overestimated standards shorter than 2 s and underestimated those above 3 s. In contrast, controls correctly estimated the majority of standards applied in both experiments, with the exception of underreproduction of intervals longer than 3 s (Exp. 1). The effect of deafness on the accuracy of duration judgment can be linked to differences in the use of conventional time units, applied strategy as well as cognitive processes such as attention or working memory.

Efficacy and safety of acupuncture therapy for nerve deafness: a meta-analysis of randomized controlled trials.

PubMed

Jiang, Yuebo; Shi, Xian; Tang, Yan

2015-01-01

Acupuncture is one of the important parts of therapeutic methods in traditional Chinese medicine, and has been widely used for the treatment of nerve deafness in recent years. The current study was to evaluate the efficacy and safety of acupuncture therapy for nerve deafness compared with conventional medicine therapy. PubMed, the Chinese National Knowledge Infrastructure Database, the Chinese Science and Technology Periodical Database, the Chinese Biomedical Database, the Wanfang Database were searched for articles published to identify randomized controlled trials evaluating efficacy and side effects between acupuncture and conventional medicine therapies up to 2013/06. A total of 12 studies, including 527 patients assessed the efficacy and safety of acupuncture therapy for nerve deafness. Overall, the efficacy of acupuncture was significantly better than that of the conventional western medication (RR: 1.54, 95% CI: 1.36-1.74) or traditional Chinese medicines (RR: 1.51, 95% CI: 1.24-1.84), and the efficacy of acupuncture in combination with conventional western medication or traditional Chinese medicine was better than that of the conventional western medication alone (RR: 1.51, 95% CI: 1.29-1.77) or traditional Chinese medicine alone (RR: 1.59, 95% CI: 1.30-1.95). Based on the comparison of number of deafness patients who were completely cured, the efficacy of acupuncture in combination with traditional Chinese medicines was better than that of traditional Chinese medicine alone (RR: 4.62, 95% CI: 1.38-15.47). Acupuncture therapy can significantly improve the hearing of patients with nerve deafness, and the efficacy of acupuncture in combination with medication is superior to medication alone.

Myocardium expression of connexin 43, SERCA2a, and myosin heavy chain isoforms are preserved in nitrofen-induced congenital diaphragmatic hernia rat model.

PubMed

Baptista, Maria João; Recamán, Mónica; Melo-Rocha, Gustavo; Nogueira-Silva, Cristina; Roriz, José-Mário; Soares-Fernandes, João; Gonzaga, Silvia; Santos, Marta; Leite-Moreira, Adelino; Areias, José Carlos; Correia-Pinto, Jorge

2006-09-01

Previous morphological studies had produced controversial results with regard to heart development in congenital diaphragmatic hernia (CDH), whereas a few publications investigated cardiac function and myocardial maturation. Myocardium maturation is associated with age-dependent increasing of gene expression of gap junction protein connexin 43 (Cx43), adenosine triphosphatase of the sarcoplasmic reticulum (SERCA2a), as well as switching of myosin heavy chains (MHCs) from beta to alpha isoforms. Our aim was to evaluate myocardium maturity in nitrofen-induced CDH rat model. Fetuses from dated pregnant Sprague-Dawley rats were assigned to 3 experimental groups: control, nitrofen (exposed to nitrofen, without CDH), and CDH (exposed to nitrofen, with CDH). Myocardial samples collected from left ventricle free wall were processed to (i) quantification of messenger RNA (mRNA) of Cx43, SERCA2a, alpha and beta MHC isoforms, as well as beta-actin (housekeeping gene); and (ii) separation of MHC isoforms (alpha and beta isoforms) by sodium dodecyl sulfate polyacrylamide gel electrophoresis silver stained. We demonstrated that there is no difference in myocardial gene expression of Cx43 (control, 1.0 +/- 0.1; nitrofen, 1.1 +/- 0.2; CDH, 1.3 +/- 0.2) and SERCA2a (control, 1.0 +/- 0.1; nitrofen, 0.9 +/- 0.1; CDH, 1.0 +/- 0.2). Myocardial gene expressions of alpha and beta mRNA of MHC isoforms were slightly decreased both in nitrofen and CDH fetuses when compared with control fetuses, but evaluation of the alpha-to-beta ratios of MHC isoforms at protein level revealed no significant differences between CDH and control (control, 16.9 +/- 2.5; CDH, 17.0 +/- 2.0). Myocardial quantification of Cx43 and SERCA2a mRNA, as well as the expression pattern of MHC isoforms at protein levels, was similar in all studied groups. We predict, therefore, that acute heart failure commonly observed in CDH infants might be attributed predominantly to cardiac overload secondary to severe pulmonary hypertension rather than to myocardial immaturity.

The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15.

PubMed

Ahmed, Zubair M; Goodyear, Richard; Riazuddin, Saima; Lagziel, Ayala; Legan, P Kevin; Behra, Martine; Burgess, Shawn M; Lilley, Kathryn S; Wilcox, Edward R; Riazuddin, Sheikh; Griffith, Andrew J; Frolenkov, Gregory I; Belyantseva, Inna A; Richardson, Guy P; Friedman, Thomas B

2006-06-28

Sound and acceleration are detected by hair bundles, mechanosensory structures located at the apical pole of hair cells in the inner ear. The different elements of the hair bundle, the stereocilia and a kinocilium, are interconnected by a variety of link types. One of these links, the tip link, connects the top of a shorter stereocilium with the lateral membrane of an adjacent taller stereocilium and may gate the mechanotransducer channel of the hair cell. Mass spectrometric and Western blot analyses identify the tip-link antigen, a hitherto unidentified antigen specifically associated with the tip and kinocilial links of sensory hair bundles in the inner ear and the ciliary calyx of photoreceptors in the eye, as an avian ortholog of human protocadherin-15, a product of the gene for the deaf/blindness Usher syndrome type 1F/DFNB23 locus. Multiple protocadherin-15 transcripts are shown to be expressed in the mouse inner ear, and these define four major isoform classes, two with entirely novel, previously unidentified cytoplasmic domains. Antibodies to the three cytoplasmic domain-containing isoform classes reveal that each has a different spatiotemporal expression pattern in the developing and mature inner ear. Two isoforms are distributed in a manner compatible for association with the tip-link complex. An isoform located at the tips of stereocilia is sensitive to calcium chelation and proteolysis with subtilisin and reappears at the tips of stereocilia as transduction recovers after the removal of calcium chelators. Protocadherin-15 is therefore associated with the tip-link complex and may be an integral component of this structure and/or required for its formation.

Deaf Genetic Testing and Psychological Well-Being in Deaf Adults

PubMed Central

Palmer, Christina G.S.; Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Deignan, Joshua L.; Kobayashi, Yoko; Sininger, Yvonne; Grody, Wayne; Sinsheimer, Janet S.

2013-01-01

Limited data suggest that enhanced self-knowledge from genetic information related to non-medical traits can have a positive impact on psychological well-being. Deaf individuals undertake genetic testing for deaf genes to increase self-knowledge. Because deafness is considered a non-medical trait by many individuals, we hypothesized that deaf individuals receiving a genetic explanation for why they are deaf will experience increased psychological well-being. We report results from a prospective, longitudinal study to determine the impact of genetic testing (GJB2, Cx26; GJB6, Cx30) on perceived personal control (PPC), anxiety, and depression in deaf adults (N=209) assessed following pre-test genetic counseling as well as 1-month and 6-months following test result disclosure. Participants were classified as Cx positive (n=82) or Cx negative/inconclusive (n=127). There was significant evidence for Cx group differences in PPC and anxiety over time (PPC: Cx group*time interaction p=0.0007; anxiety: Cx group*time interaction p=0.002), where PPC scores were significantly higher, and anxiety scores were significantly lower for the Cx positive group relative to the negative/inconclusive group following test result disclosure. Compared to pre-test, PPC scores increased at 1-month (p=0.07) and anxiety scores decreased at 6-months for the Cx positive group (p=0.03). In contrast, PPC scores decreased (p=0.009, p<0.0001) and anxiety scores increased (p=0.09, p=0.02) for the Cx negative/inconclusive group at 1- and 6-months post test result disclosure. Genetic testing for deaf genes affects the psychological well-being of deaf individuals. Increasing deaf adults’ access to genetic testing may potentially enhance self-knowledge and increase psychological well-being for those who receive a genetic explanation, which could offer downstream health benefits. PMID:23430402

Speech Experience Shapes the Speechreading Network and Subsequent Deafness Facilitates It

ERIC Educational Resources Information Center

Suh, Myung-Whan; Lee, Hyo-Jeong; Kim, June Sic; Chung, Chun Kee; Oh, Seung-Ha

2009-01-01

Speechreading is a visual communicative skill for perceiving speech. In this study, we tested the effects of speech experience and deafness on the speechreading neural network in normal hearing controls and in two groups of deaf patients who became deaf either before (prelingual deafness) or after (postlingual deafness) auditory language…

Espins are multifunctional actin cytoskeletal regulatory proteins in the microvilli of chemosensory and mechanosensory cells

PubMed Central

Sekerková, Gabriella; Zheng, Lili; Loomis, Patricia A.; Changyaleket, Benjarat; Whitlon, Donna S.; Mugnaini, Enrico; Bartles, James R.

2010-01-01

Espins are associated with the parallel actin bundles of hair cell stereocilia and are the target of mutations that cause deafness and vestibular dysfunction in mice and humans. Here, we report that espins are also concentrated in the microvilli of a number of other sensory cells: vomeronasal organ sensory neurons, solitary chemoreceptor cells, taste cells and Merkel cells. Moreover, we show that hair cells and these other sensory cells contain novel espin isoforms that arise from a different transcriptional start site and differ significantly from other espin isoforms in their complement of ligand-binding activities and their effects on actin polymerization. The novel espin isoforms of sensory cells bundled actin filaments with high affinity in a Ca2+-resistant fashion, bound actin monomer via a WASP homology 2 domain, bound profilin via a single proline-rich peptide, and caused a dramatic elongation of microvillus-type parallel actin bundles in transfected epithelial cells. In addition, the novel espin isoforms of sensory cells differed from other espin isoforms in that they potently inhibited actin polymerization in vitro, did not bind the Src homology 3 domain of the adapter protein insulin receptor substrate p53 and did not bind the acidic, signaling phospholipid phosphatidylinositol 4,5- bisphosphate. Thus, the espins constitute a family of multifunctional actin cytoskeletal regulatory proteins with the potential to differentially influence the organization, dimensions, dynamics and signaling capabilities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in a variety of mechanosensory and chemosensory cells. PMID:15190118

[Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II].

PubMed

López, Greizy; Gelvez, Nancy Yaneth; Tamayo, Martalucía

2011-03-01

Usher syndrome is a disorder characterized by progressive retinitis pigmentosa, prelingual sensory hearing loss and vestibular dysfunction. It is the most frequent cause of deaf-blindness in humans. Three clinical types and twelve genetic subtypes have been characterized. Type II is the most common, and among these cases, nearly 80% have mutations in the USH2A gene. The aim of the study was to establish the mutational frequencies for the short isoform of USH2A gene in Usher syndrome type II. Twenty-six Colombian individuals with Usher syndrome type II were included. SSCP analysis for 20 exons of the short isoform was performed and abnormal patterns were sequenced. Sequencing of exon 13 of the USH2A gene was performed for all the individuals because the most frequent mutation is located in this exon. The most frequent mutation was c.2299delG, identified in the 27% (n=8) of the sample. The second mutation, p.R334W, showed a frequency of 15%. A new variant identified in the 5’UTR region, g.129G>T, was present in 1 individual (4%). Four polymorphisms were identified; one of them is a new deletion in exon 20, first reported in this study. Mutations in the usherin short isoform were identified in 38% of a sample of 26 USH2 cases. Molecular diagnosis was established in 7 of the 26.

Usher protein functions in hair cells and photoreceptors

PubMed Central

Cosgrove, Dominic; Zallocchi, Marisa

2014-01-01

The 10 different genes associated with the deaf/blind disorder, Usher syndrome, encode a number of structurally and functionally distinct proteins, most expressed as multiple isoforms/protein variants. Functional characterization of these proteins suggests a role in stereocilia development in cochlear hair cells, likely owing to adhesive interactions in hair bundles. In mature hair cells, homodimers of the Usher cadherins, cadherin 23 and protocadherin 15, interact to form a structural fiber, the tip link, and the linkages that anchor the taller stereocilia's actin cytoskeleton core to the shorter adjacent stereocilia and the elusive mechanotransduction channels, explaining the deafness phenotype when these molecular interactions are perturbed. The conundrum is that photoreceptors lack a synonymous mechanotransduction apparatus, and so a common theory for Usher protein function in the two neurosensory cell types affected in Usher syndrome is lacking. Recent evidence linking photoreceptor cell dysfunction in the shaker 1 mouse model for Usher syndrome to light-induced protein translocation defects, combined with localization of an Usher protein interactome at the periciliary region of the photoreceptors suggests Usher proteins might regulate protein trafficking between the inner and outer segments of photoreceptors. A distinct Usher protein complex is trafficked to the ribbon synapses of hair cells, and synaptic defects have been reported in Usher mutants in both hair cells and photoreceptors. This review aims to clarify what is known about Usher protein function at the synaptic and apical poles of hair cells and photoreceptors and the prospects for identifying a unifying pathobiological mechanism to explain deaf/blindness in Usher syndrome. PMID:24239741

Usher protein functions in hair cells and photoreceptors.

PubMed

Cosgrove, Dominic; Zallocchi, Marisa

2014-01-01

The 10 different genes associated with the deaf/blind disorder, Usher syndrome, encode a number of structurally and functionally distinct proteins, most expressed as multiple isoforms/protein variants. Functional characterization of these proteins suggests a role in stereocilia development in cochlear hair cells, likely owing to adhesive interactions in hair bundles. In mature hair cells, homodimers of the Usher cadherins, cadherin 23 and protocadherin 15, interact to form a structural fiber, the tip link, and the linkages that anchor the taller stereocilia's actin cytoskeleton core to the shorter adjacent stereocilia and the elusive mechanotransduction channels, explaining the deafness phenotype when these molecular interactions are perturbed. The conundrum is that photoreceptors lack a synonymous mechanotransduction apparatus, and so a common theory for Usher protein function in the two neurosensory cell types affected in Usher syndrome is lacking. Recent evidence linking photoreceptor cell dysfunction in the shaker 1 mouse model for Usher syndrome to light-induced protein translocation defects, combined with localization of an Usher protein interactome at the periciliary region of the photoreceptors suggests Usher proteins might regulate protein trafficking between the inner and outer segments of photoreceptors. A distinct Usher protein complex is trafficked to the ribbon synapses of hair cells, and synaptic defects have been reported in Usher mutants in both hair cells and photoreceptors. This review aims to clarify what is known about Usher protein function at the synaptic and apical poles of hair cells and photoreceptors and the prospects for identifying a unifying pathobiological mechanism to explain deaf/blindness in Usher syndrome. Copyright © 2013 Elsevier Ltd. All rights reserved.

Expression of alpha and beta subunit isoforms of Na,K-ATPase in the mouse inner ear and changes with mutations at the Wv or Sld loci.

PubMed

Schulte, B A; Steel, K P

1994-07-01

Mice homozygous for mutations at the viable dominant spotting (Wv) and Steel-dickie (Sld) loci exhibit a similar phenotype which includes deafness. The auditory dysfunction derives from failure of the stria vascularis to develop normally and to generate a high positive endocochlear potential (EP). Because strial function is driven by Na,K-ATPase its expression was investigated in inner ears of Wv/Wv and Sld/Sld mice and their wild-type littermates by immunostaining with antisera against four of the enzyme's subunit isoforms. Wild-type mice from two different genetic backgrounds showed an identical distribution of subunit isoforms among inner ear transport cells. Several epithelial cell types coexpressed the alpha 1 and beta 1 subunits. Vestibular dark cells showed no reactivity for beta 1 but expressed abundant beta 2, whereas, strial marginal cells stained strongly for both beta isoforms. The only qualitative difference between mutant and wild-type mice was the absence of beta 1 subunit in marginal cells of the mutant's stria. However, it is unlikely that this difference accounts for failure of mutants to generate a high EP because the beta 1 subunit is not present in the stria vascularis of either rats or gerbils with normal EP values. Strong immunostaining for Na,K-ATPase in lateral wall fibrocytes of normal mice along with diminished immunoreactivity in the mutants supports the concept that these strategically located transport fibrocytes actively resorb K+ leaked across Reissner's membrane into scala vestibuli or effluxed from hair cells and nerves into scala tympani. It is further speculated that the resorbed K+ normally is siphoned down its concentration gradient into the intrastrial space through gap junctions between fibrocytes and strial basal and intermediate cells where it is recycled back to endolymph via marginal cells. Thus, failure of mutants to generate a positive EP could be explained by the absence of intermediate cells which may form the final link in the conduit for moving K+ from perilymph to the intrastrial compartment.

Enhancing the Induction Skill of Deaf and Hard-of-Hearing Children with Virtual Reality Technology.

PubMed

Passig, D; Eden, S

2000-01-01

Many researchers have found that for reasoning and reaching a reasoned conclusion, particularly when the process of induction is required, deaf and hard-of-hearing children have unusual difficulty. The purpose of this study was to investigate whether the practice of rotating virtual reality (VR) three-dimensional (3D) objects will have a positive effect on the ability of deaf and hard-of-hearing children to use inductive processes when dealing with shapes. Three groups were involved in the study: (1) experimental group, which included 21 deaf and hard-of-hearing children, who played a VR 3D game; (2) control group I, which included 23 deaf and hard-of-hearing children, who played a similar two-dimensional (2D) game (not VR game); and (3) control group II of 16 hearing children for whom no intervention was introduced. The results clearly indicate that practicing with VR 3D spatial rotations significantly improved inductive thinking used by the experimental group for shapes as compared with the first control group, who did not significantly improve their performance. Also, prior to the VR 3D experience, the deaf and hard-of-hearing children attained lower scores in inductive abilities than the children with normal hearing, (control group II). The results for the experimental group, after the VR 3D experience, improved to the extent that there was no noticeable difference between them and the children with normal hearing.

P1 promoter-driven HNF4α isoforms are specifically repressed by β-catenin signaling in colorectal cancer cells.

PubMed

Babeu, Jean-Philippe; Jones, Christine; Geha, Sameh; Carrier, Julie C; Boudreau, François

2018-06-13

HNF4α is a key nuclear receptor for regulating gene expression in the gut. While both P1 and P2 isoform classes of HNF4α are expressed in colonic epithelium, specific inhibition of P1 isoforms is commonly found in colorectal cancer. Previous studies have suggested that P1 and P2 isoforms may regulate different cellular functions. Despite these advances, it remains unclear whether these isoform classes are functionally divergent in the context of human biology. Here, the consequences of specific inhibition of P1 or P2 isoform expression was measured in a human colorectal cancer cell transcriptome. Results indicate that P1 isoforms were specifically associated with the control of cell metabolism while P2 isoforms globally supported aberrant oncogenic signalization, promoting cancer cell survival and progression. P1 promoter-driven isoform expression was found to be repressed by β-catenin, one of the earliest oncogenic pathways to be activated during colon tumorigenesis. These findings identify a novel cascade by which the expression of P1 isoforms are rapidly shut down in the early stages of colon tumorigenesis, allowing a change in HNF4α-dependent transcriptome thereby promoting colorectal cancer progression. © 2018. Published by The Company of Biologists Ltd.

Sustained attention, selective attention and cognitive control in deaf and hearing children

PubMed Central

Dye, Matthew W. G.; Hauser, Peter C.

2014-01-01

Deaf children have been characterized as being impulsive, distractible, and unable to sustain attention. However, past research has tested deaf children born to hearing parents who are likely to have experienced language delays. The purpose of this study was to determine whether an absence of auditory input modulates attentional problems in deaf children with no delayed exposure to language. Two versions of a continuous performance test were administered to 37 deaf children born to Deaf parents and 60 hearing children, all aged 6–13 years. A vigilance task was used to measure sustained attention over the course of several minutes, and a distractibility test provided a measure of the ability to ignore task irrelevant information – selective attention. Both tasks provided assessments of cognitive control through analysis of commission errors. The deaf and hearing children did not differ on measures of sustained attention. However, younger deaf children were more distracted by task-irrelevant information in their peripheral visual field, and deaf children produced a higher number of commission errors in the selective attention task. It is argued that this is not likely to be an effect of audition on cognitive processing, but may rather reflect difficulty in endogenous control of reallocated visual attention resources stemming from early profound deafness. PMID:24355653

Sustained attention, selective attention and cognitive control in deaf and hearing children.

PubMed

Dye, Matthew W G; Hauser, Peter C

2014-03-01

Deaf children have been characterized as being impulsive, distractible, and unable to sustain attention. However, past research has tested deaf children born to hearing parents who are likely to have experienced language delays. The purpose of this study was to determine whether an absence of auditory input modulates attentional problems in deaf children with no delayed exposure to language. Two versions of a continuous performance test were administered to 37 deaf children born to Deaf parents and 60 hearing children, all aged 6-13 years. A vigilance task was used to measure sustained attention over the course of several minutes, and a distractibility test provided a measure of the ability to ignore task irrelevant information - selective attention. Both tasks provided assessments of cognitive control through analysis of commission errors. The deaf and hearing children did not differ on measures of sustained attention. However, younger deaf children were more distracted by task-irrelevant information in their peripheral visual field, and deaf children produced a higher number of commission errors in the selective attention task. It is argued that this is not likely to be an effect of audition on cognitive processing, but may rather reflect difficulty in endogenous control of reallocated visual attention resources stemming from early profound deafness. Copyright © 2013 Elsevier B.V. All rights reserved.

Improving flexible thinking in deaf and hard of hearing children with virtual reality technology.

PubMed

Passig, D; Eden, S

2000-07-01

The study investigated whether rotating three-dimensional (3-D) objects using virtual reality (VR) will affect flexible thinking in deaf and hard of hearing children. Deaf and hard of hearing subjects were distributed into experimental and control groups. The experimental group played virtual 3-D Tetris (a game using VR technology) individually, 15 minutes once weekly over 3 months. The control group played conventional two-dimensional (2-D) Tetris over the same period. Children with normal hearing participated as a second control group in order to establish whether deaf and hard of hearing children really are disadvantaged in flexible thinking. Before-and-after testing showed significantly improved flexible thinking in the experimental group; the deaf and hard of hearing control group showed no significant improvement. Also, before the experiment, the deaf and hard of hearing children scored lower in flexible thinking than the children with normal hearing. After the experiment, the difference between the experimental group and the control group of children with normal hearing was smaller.

The Significance of Deaf Identity for Psychological Well-Being

ERIC Educational Resources Information Center

Chapman, Madeleine; Dammeyer, Jesper

2017-01-01

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…

Action video game players and deaf observers have larger Goldmann visual fields.

PubMed

Buckley, David; Codina, Charlotte; Bhardwaj, Palvi; Pascalis, Olivier

2010-03-05

We used Goldmann kinetic perimetry to compare how training and congenital auditory deprivation may affect the size of the visual field. We measured the ability of action video game players and deaf observers to detect small moving lights at various locations in the central (around 30 degrees from fixation) and peripheral (around 60 degrees ) visual fields. Experiment 1 found that 10 habitual video game players showed significantly larger central and peripheral field areas than 10 controls. In Experiment 2 we found that 13 congenitally deaf observers had significantly larger visual fields than 13 hearing controls for both the peripheral and central fields. Here the greatest differences were found in the lower parts of the fields. Comparison of the two groups showed that whereas VGP players have a more uniform increase in field size in both central and peripheral fields deaf observers show non-uniform increases with greatest increases in lower parts of the visual field.

HIF isoforms in the skin differentially regulate systemic arterial pressure

PubMed Central

Cowburn, Andrew S.; Takeda, Norihiko; Boutin, Adam T.; Kim, Jung-Whan; Sterling, Jane C.; Nakasaki, Manando; Southwood, Mark; Goldrath, Ananda W.; Jamora, Colin; Nizet, Victor; Chilvers, Edwin R.; Johnson, Randall S.

2013-01-01

Vascular flow through tissues is regulated via a number of homeostatic mechanisms. Localized control of tissue blood flow, or autoregulation, is a key factor in regulating tissue perfusion and oxygenation. We show here that the net balance between two hypoxia-inducible factor (HIF) transcription factor isoforms, HIF-1α and HIF-2α, is an essential mechanism regulating both local and systemic blood flow in the skin of mice. We also show that balance of HIF isoforms in keratinocyte-specific mutant mice affects thermal adaptation, exercise capacity, and systemic arterial pressure. The two primary HIF isoforms achieve these effects in opposing ways that are associated with HIF isoform regulation of nitric oxide production. We also show that a correlation exists between altered levels of HIF isoforms in the skin and the degree of idiopathic hypertension in human subjects. Thus, the balance between HIF-1α and HIF-2α expression in keratinocytes is a control element of both tissue perfusion and systemic arterial pressure, with potential implications in human hypertension. PMID:24101470

[Study of generational risk in deafness inflicted couples using deafness gene microarray technique].

PubMed

Wang, Ping; Zhao, Jia; Yu, Shu-yuan; Jin, Peng; Zhu, Wei; DU, Bo

2011-06-01

To explored the significance of screening the gene mutations of deafness related in deaf-mute (deaf & dumb) family using DNA microarray. Total of 52 couples of deaf-mute were recruited from Changchun deaf-mute community. With an average age of (58.3 ± 6.7) years old (x(-) ± s). Blood samples were obtained with informed consent. Their genomic DNA was extracted from peripheral blood and PCR was performed. Nine of hot spot mutations in four most common deafness pathologic gene were examined with the DNA microarray, including GJB2, GJB3, PDS and mtDNA 12S rRNA genes. At the same time, the results were verified with the traditional methods of sequencing. Fifty of normal people served as a control group. All patients were diagnosed non-syndromic sensorineural hearing loss by subjective pure tone audiometry. Thirty-two of 104 cases appeared GJB2 gene mutation (30.7%), the mutation sites included 35delG, 176del16, 235delC and 299delAT. Eighteen of 32 cases of GJB2 mutations were 235delC (59.1%). Seven of 104 cases appeared SLC26A4 gene IVS7-2 A > G mutation. Questionnaire survey and gene diagnosis revealed that four of 52 families have deaf offspring (7.6%). When a couple carries the same gene mutation, the risk of their children deafness was 100%. The results were confirmed with the traditional methods of sequencing. There is a high risk of deafness if a deaf-mute family is planning to have a new baby. It is very important and helpful to avoid deaf newborns again in deaf-mute family by DNA microarray.

Espins and the actin cytoskeleton of hair cell stereocilia and sensory cell microvilli

PubMed Central

Sekerková, Gabriella; Zheng, Lili; Loomis, Patricia A.; Mugnaini, Enrico; Bartles, James R.

2008-01-01

The espins are novel actin-bundling proteins that are produced in multiple isoforms from a single gene. They are present at high concentration in the parallel actin bundle of hair cell stereocilia and are the target of deafness mutations in mice and humans. Espins are also enriched in the microvilli of taste receptor cells, solitary chemoreceptor cells, vomeronasal sensory neurons and Merkel cells, suggesting that espins play important roles in the microvillar projections of vertebrate sensory cells. Espins are potent actin-bundling proteins that are not inhibited by Ca2+. In cells, they efficiently elongate parallel actin bundles and, thereby, help determine the steady-state length of microvilli and stereocilia. Espins bind actin monomer via their WH2 domain and can assemble actin bundles in cells. Certain espin isoforms can also bind phosphatidylinositol 4,5-bisphosphate, profilins or SH3 proteins. These biological activities distinguish espins from other actin-bundling proteins and may make them well-suited to sensory cells. PMID:16909209

Locus of Control, Interest in Schooling and Science Achievement of Some Deaf and Typical Secondary School Students in Nigeria

ERIC Educational Resources Information Center

Olatoye, R. Ademola; Aanu, E. Mosunmola

2010-01-01

This study compared locus of control, interest in school and science achievement of typical and deaf secondary school students. The study also investigated influence of students' locus of control and interest in school on general science achievement. Seventy two (72) deaf and 235 typical children were purposively selected from eight secondary…

Exploring consequences of short- and long-term deafness on speech production: a lip-tube perturbation study.

PubMed

Turgeon, Christine; Prémont, Amélie; Trudeau-Fisette, Paméla; Ménard, Lucie

2015-05-01

Studies have reported strong links between speech production and perception. We aimed to evaluate the role of long- and short-term auditory feedback alteration on speech production. Eleven adults with normal hearing (controls) and 17 cochlear implant (CI) users (7 pre-lingually deaf and 10 post-lingually deaf adults) were recruited. Short-term auditory feedback deprivation was induced by turning off the CI or by providing masking noise. Acoustic and articulatory measures were obtained during the production of /u/, with and without a tube inserted between the lips (perturbation), and with and without auditory feedback. F1 values were significantly different between the implant OFF and ON conditions for the pre-lingually deaf participants. In the absence of auditory feedback, the pre-lingually deaf participants moved the tongue more forward. Thus, a lack of normal auditory experience of speech may affect the internal representation of a vowel.

Arkansas School for the Deaf Student Handbook.

ERIC Educational Resources Information Center

Arkansas School for the Deaf, Little Rock.

This handbook is designed for students who attend the Arkansas School for the Deaf. It explains the rules of the school and some of the possible consequences for infractions. A Violence Prevention and Control Plan outlines the rules of conduct in three major categories: Level 1, Level 2, and Level 3. Information is also provided on sexual…

Comparison of transferrin isoform analysis by capillary electrophoresis and HPLC for screening congenital disorders of glycosylation.

PubMed

Dave, Mihika B; Dherai, Alpa J; Udani, Vrajesh P; Hegde, Anaita U; Desai, Neelu A; Ashavaid, Tester F

2018-01-01

Transferrin, a major glycoprotein has different isoforms depending on the number of sialic acid residues present on its oligosaccharide chain. Genetic variants of transferrin as well as the primary (CDG) & secondary glycosylation defects lead to an altered transferrin pattern. Isoform analysis methods are based on charge/mass variations. We aimed to compare the performance of commercially available capillary electrophoresis CDT kit for diagnosing congenital disorders of glycosylation with our in-house optimized HPLC method for transferrin isoform analysis. The isoform pattern of 30 healthy controls & 50 CDG-suspected patients was determined by CE using a Carbohydrate-Deficient Transferrin kit. The results were compared with in-house HPLC-based assay for transferrin isoforms. Transferrin isoform pattern for healthy individuals showed a predominant tetrasialo transferrin fraction followed by pentasialo, trisialo, and disialotransferrin. Two of 50 CDG-suspected patients showed the presence of asialylated isoforms. The results were comparable with isoform pattern obtained by HPLC. The commercial controls showed a <20% CV for each isoform. Bland Altman plot showed the difference plot to be within +1.96 with no systemic bias in the test results by HPLC & CE. The CE method is rapid, reproducible and comparable with HPLC and can be used for screening Glycosylation defects. © 2017 Wiley Periodicals, Inc.

Multisensory emotion perception in congenitally, early, and late deaf CI users

PubMed Central

Nava, Elena; Villwock, Agnes K.; Büchner, Andreas; Lenarz, Thomas; Röder, Brigitte

2017-01-01

Emotions are commonly recognized by combining auditory and visual signals (i.e., vocal and facial expressions). Yet it is unknown whether the ability to link emotional signals across modalities depends on early experience with audio-visual stimuli. In the present study, we investigated the role of auditory experience at different stages of development for auditory, visual, and multisensory emotion recognition abilities in three groups of adolescent and adult cochlear implant (CI) users. CI users had a different deafness onset and were compared to three groups of age- and gender-matched hearing control participants. We hypothesized that congenitally deaf (CD) but not early deaf (ED) and late deaf (LD) CI users would show reduced multisensory interactions and a higher visual dominance in emotion perception than their hearing controls. The CD (n = 7), ED (deafness onset: <3 years of age; n = 7), and LD (deafness onset: >3 years; n = 13) CI users and the control participants performed an emotion recognition task with auditory, visual, and audio-visual emotionally congruent and incongruent nonsense speech stimuli. In different blocks, participants judged either the vocal (Voice task) or the facial expressions (Face task). In the Voice task, all three CI groups performed overall less efficiently than their respective controls and experienced higher interference from incongruent facial information. Furthermore, the ED CI users benefitted more than their controls from congruent faces and the CD CI users showed an analogous trend. In the Face task, recognition efficiency of the CI users and controls did not differ. Our results suggest that CI users acquire multisensory interactions to some degree, even after congenital deafness. When judging affective prosody they appear impaired and more strongly biased by concurrent facial information than typically hearing individuals. We speculate that limitations inherent to the CI contribute to these group differences. PMID:29023525

Multisensory emotion perception in congenitally, early, and late deaf CI users.

PubMed

Fengler, Ineke; Nava, Elena; Villwock, Agnes K; Büchner, Andreas; Lenarz, Thomas; Röder, Brigitte

2017-01-01

Emotions are commonly recognized by combining auditory and visual signals (i.e., vocal and facial expressions). Yet it is unknown whether the ability to link emotional signals across modalities depends on early experience with audio-visual stimuli. In the present study, we investigated the role of auditory experience at different stages of development for auditory, visual, and multisensory emotion recognition abilities in three groups of adolescent and adult cochlear implant (CI) users. CI users had a different deafness onset and were compared to three groups of age- and gender-matched hearing control participants. We hypothesized that congenitally deaf (CD) but not early deaf (ED) and late deaf (LD) CI users would show reduced multisensory interactions and a higher visual dominance in emotion perception than their hearing controls. The CD (n = 7), ED (deafness onset: <3 years of age; n = 7), and LD (deafness onset: >3 years; n = 13) CI users and the control participants performed an emotion recognition task with auditory, visual, and audio-visual emotionally congruent and incongruent nonsense speech stimuli. In different blocks, participants judged either the vocal (Voice task) or the facial expressions (Face task). In the Voice task, all three CI groups performed overall less efficiently than their respective controls and experienced higher interference from incongruent facial information. Furthermore, the ED CI users benefitted more than their controls from congruent faces and the CD CI users showed an analogous trend. In the Face task, recognition efficiency of the CI users and controls did not differ. Our results suggest that CI users acquire multisensory interactions to some degree, even after congenital deafness. When judging affective prosody they appear impaired and more strongly biased by concurrent facial information than typically hearing individuals. We speculate that limitations inherent to the CI contribute to these group differences.

Cross-modal activation of auditory regions during visuo-spatial working memory in early deafness.

PubMed

Ding, Hao; Qin, Wen; Liang, Meng; Ming, Dong; Wan, Baikun; Li, Qiang; Yu, Chunshui

2015-09-01

Early deafness can reshape deprived auditory regions to enable the processing of signals from the remaining intact sensory modalities. Cross-modal activation has been observed in auditory regions during non-auditory tasks in early deaf subjects. In hearing subjects, visual working memory can evoke activation of the visual cortex, which further contributes to behavioural performance. In early deaf subjects, however, whether and how auditory regions participate in visual working memory remains unclear. We hypothesized that auditory regions may be involved in visual working memory processing and activation of auditory regions may contribute to the superior behavioural performance of early deaf subjects. In this study, 41 early deaf subjects (22 females and 19 males, age range: 20-26 years, age of onset of deafness < 2 years) and 40 age- and gender-matched hearing controls underwent functional magnetic resonance imaging during a visuo-spatial delayed recognition task that consisted of encoding, maintenance and recognition stages. The early deaf subjects exhibited faster reaction times on the spatial working memory task than did the hearing controls. Compared with hearing controls, deaf subjects exhibited increased activation in the superior temporal gyrus bilaterally during the recognition stage. This increased activation amplitude predicted faster and more accurate working memory performance in deaf subjects. Deaf subjects also had increased activation in the superior temporal gyrus bilaterally during the maintenance stage and in the right superior temporal gyrus during the encoding stage. These increased activation amplitude also predicted faster reaction times on the spatial working memory task in deaf subjects. These findings suggest that cross-modal plasticity occurs in auditory association areas in early deaf subjects. These areas are involved in visuo-spatial working memory. Furthermore, amplitudes of cross-modal activation during the maintenance stage were positively correlated with the age of onset of hearing aid use and were negatively correlated with the percentage of lifetime hearing aid use in deaf subjects. These findings suggest that earlier and longer hearing aid use may inhibit cross-modal reorganization in early deaf subjects. Granger causality analysis revealed that, compared to the hearing controls, the deaf subjects had an enhanced net causal flow from the frontal eye field to the superior temporal gyrus. These findings indicate that a top-down mechanism may better account for the cross-modal activation of auditory regions in early deaf subjects.See MacSweeney and Cardin (doi:10/1093/awv197) for a scientific commentary on this article. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

PubMed Central

Vulto-van Silfhout, Anneke T.; Rajamanickam, Shivakumar; Jensik, Philip J.; Vergult, Sarah; de Rocker, Nina; Newhall, Kathryn J.; Raghavan, Ramya; Reardon, Sara N.; Jarrett, Kelsey; McIntyre, Tara; Bulinski, Joseph; Ownby, Stacy L.; Huggenvik, Jodi I.; McKnight, G. Stanley; Rose, Gregory M.; Cai, Xiang; Willaert, Andy; Zweier, Christiane; Endele, Sabine; de Ligt, Joep; van Bon, Bregje W.M.; Lugtenberg, Dorien; de Vries, Petra F.; Veltman, Joris A.; van Bokhoven, Hans; Brunner, Han G.; Rauch, Anita; de Brouwer, Arjan P.M.; Carvill, Gemma L.; Hoischen, Alexander; Mefford, Heather C.; Eichler, Evan E.; Vissers, Lisenka E.L.M.; Menten, Björn; Collard, Michael W.; de Vries, Bert B.A.

2014-01-01

Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and identified two additional individuals with de novo mutations in this gene. All four individuals had severe ID with severely affected speech development, and three showed severe behavioral problems. DEAF1 is highly expressed in the CNS, especially during early embryonic development. All four mutations were missense mutations affecting the SAND domain of DEAF1. Altered DEAF1 harboring any of the four amino acid changes showed impaired transcriptional regulation of the DEAF1 promoter. Moreover, behavioral studies in mice with a conditional knockout of Deaf1 in the brain showed memory deficits and increased anxiety-like behavior. Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. PMID:24726472

Psychiatric disorder prevalence among deaf and hard-of-hearing outpatients.

PubMed

Diaz, David R; Landsberger, Sarah A; Povlinski, Jessica; Sheward, Jerry; Sculley, Charleen

2013-10-01

To contribute to the dearth of literature on the prevalence rates of psychiatric disorders in deaf adults, this study examined the diagnostic and clinical characteristics of deaf psychiatric outpatients in comparison to hearing psychiatric outpatients. Archival clinical data for deaf adults (N=241), treated at a specialized, linguistically and culturally affirmative outpatient community mental health program from 2002 to 2010, was compared to data from a random sample of hearing adult outpatients (N=345) who were treated at the same community mental health center. In various diagnostic categories, significant differences were seen between the deaf and hearing groups: bipolar disorders (3.7% versus 14.2%), impulse control disorders (15.8% versus 5.2%), anxiety disorders (18.7% versus 30.1%), attention deficit hyperactivity disorder (11.2% versus 4.9%), pervasive developmental disorders (3.3% versus 0.3%), substance use disorders (27.8% versus 48.4%), and intellectual disabilities (10.4% versus 2.9%). The deaf outpatient group evidenced a different diagnostic profile than the hearing sample. It is suggested that the use of culturally competent and fluent ASL-signing clinicians provides more diagnostic clarity and is encouraged as a best practice for the care of deaf individuals. Copyright © 2013 Elsevier Inc. All rights reserved.

A Psycholinguistic Analysis of "Deaf English."

ERIC Educational Resources Information Center

Charrow, Veda R.

The purpose of this study was to identify and provide normative data for weighting of those nonstandard linguistic features that make up deaf English. Subjects were prelingually or congenitally deaf high school students from the California School for the Deaf and a control group of normal-hearing fourth graders from a California public school.…

Language Facility and Theory of Mind Development in Deaf Children.

ERIC Educational Resources Information Center

Jackson, A. Lyn

2001-01-01

Deaf children with signing parents, nonnative signing deaf children, children from a hearing impaired unit, oral deaf children, and hearing controls were tested on theory of Mind (ToM) tasks and a British sign language receptive language test. Language ability correlated positively and significantly with ToM ability. Age underpinned the…

Decoding Actions and Emotions in Deaf Children: Evidence from a Biological Motion Task

ERIC Educational Resources Information Center

Ludlow, Amanda Katherine; Heaton, Pamela; Deruelle, Christine

2013-01-01

This study aimed to explore the recognition of emotional and non-emotional biological movements in children with severe and profound deafness. Twenty-four deaf children, together with 24 control children matched on mental age and 24 control children matched on chronological age, were asked to identify a person's actions, subjective states,…

Health locus of control and assimilation of cervical cancer information in Deaf women.

PubMed

Wang, Regina; Aldridge, Arianna A; Malcarne, Vanessa L; Choe, Sun; Branz, Patricia; Sadler, Georgia Robins

2010-09-01

This study assessed the relationship between Deaf women's internal health locus of control (IHLC) and their cervical cancer knowledge acquisition and retention. A blind, randomized trial evaluated Deaf women's (N = 130) baseline cancer knowledge and knowledge gained and retained from an educational intervention, in relation to their IHLC. The Multidimensional Health Locus of Control scales measured baseline IHLC, and a cervical cancer knowledge survey evaluated baseline to post-intervention knowledge change. Women's IHLC did not significantly predict greater cervical cancer knowledge at baseline or over time. IHLC does not appear to be a characteristic that must be considered when creating Deaf women's cancer education programs.

Auditory perception and the control of spatially coordinated action of deaf and hearing children.

PubMed

Savelsbergh, G J; Netelenbos, J B; Whiting, H T

1991-03-01

From birth onwards, auditory stimulation directs and intensifies visual orientation behaviour. In deaf children, by definition, auditory perception cannot take place and cannot, therefore, make a contribution to visual orientation to objects approaching from outside the initial field of view. In experiment 1, a difference in catching ability is demonstrated between deaf and hearing children (10-13 years of age) when the ball approached from the periphery or from outside the field of view. No differences in catching ability between the two groups occurred when the ball approached from within the field of view. A second experiment was conducted in order to determine if differences in catching ability between deaf and hearing children could be attributed to execution of slow orientating movements and/or slow reaction time as a result of the auditory loss. The deaf children showed slower reaction times. No differences were found in movement times between deaf and hearing children. Overall, the findings suggest that a lack of auditory stimulation during development can lead to deficiencies in the coordination of actions such as catching which are both spatially and temporally constrained.

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

PubMed

Vulto-van Silfhout, Anneke T; Rajamanickam, Shivakumar; Jensik, Philip J; Vergult, Sarah; de Rocker, Nina; Newhall, Kathryn J; Raghavan, Ramya; Reardon, Sara N; Jarrett, Kelsey; McIntyre, Tara; Bulinski, Joseph; Ownby, Stacy L; Huggenvik, Jodi I; McKnight, G Stanley; Rose, Gregory M; Cai, Xiang; Willaert, Andy; Zweier, Christiane; Endele, Sabine; de Ligt, Joep; van Bon, Bregje W M; Lugtenberg, Dorien; de Vries, Petra F; Veltman, Joris A; van Bokhoven, Hans; Brunner, Han G; Rauch, Anita; de Brouwer, Arjan P M; Carvill, Gemma L; Hoischen, Alexander; Mefford, Heather C; Eichler, Evan E; Vissers, Lisenka E L M; Menten, Björn; Collard, Michael W; de Vries, Bert B A

2014-05-01

Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and identified two additional individuals with de novo mutations in this gene. All four individuals had severe ID with severely affected speech development, and three showed severe behavioral problems. DEAF1 is highly expressed in the CNS, especially during early embryonic development. All four mutations were missense mutations affecting the SAND domain of DEAF1. Altered DEAF1 harboring any of the four amino acid changes showed impaired transcriptional regulation of the DEAF1 promoter. Moreover, behavioral studies in mice with a conditional knockout of Deaf1 in the brain showed memory deficits and increased anxiety-like behavior. Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Regulated Expression of a Calmodulin Isoform Alters Growth and Development in Potato

NASA Technical Reports Server (NTRS)

Poovaiah, B. W.; Takezawa, D.; An, G.; Han, T.-J.

1996-01-01

A transgene approach was taken to study the consequences of altered expression of a calmodutin iso-form on plant growth and development. Eight genomic clones of potato calmodulin (PCM 1 to 8) have been isolated and characterized. Among the potato calmodulin isoforms studied, PCM 1 differs from the other isoforms because of its unique amino acid substitutions. Transgenic potato plants were produced carrying sense construct of PCM 1 fused to the CAMV 35S promoter. Transgenic plants showing a moderate increase in PCM 1 MRNA exhibited strong apical dominance, produced elongated tubers, and were taller than the controls. Interestingly, the plants expressing the highest level of PCM 1 MRNA did not form underground tubers. Instead, these transgenic plants produced aerial tubers when allowed to grow for longer periods. The expression of different calmodulin isoforms (PCM 1, 5, 6, and 8) was studied in transgenic plants. Among the four potato calmodulin isoforms, only the expression of PCM 1 MRNA was altered in transgenic plants, while the expression of other isoforms was not significantly altered. Western analysis revealed increased PCM 1 protein in transgenic plants, indicating that the expression of both MRNA and protein are altered in transgenic plants. These results suggest that increasing the expression of PCM 1 alters growth and development in potato plants.

Deaf and Hearing Children: A Comparison of Peripheral Vision Development

ERIC Educational Resources Information Center

Codina, Charlotte; Buckley, David; Port, Michael; Pascalis, Olivier

2011-01-01

This study investigated peripheral vision (at least 30[degrees] eccentric to fixation) development in profoundly deaf children without cochlear implantation, and compared this to age-matched hearing controls as well as to deaf and hearing adult data. Deaf and hearing children between the ages of 5 and 15 years were assessed using a new,…

Health Locus of Control and Assimilation of Cervical Cancer Information in Deaf Women

PubMed Central

Wang, Regina; Aldridge, Arianna A.; Malcarne, Vanessa L.; Choe, Sun; Branz, Patricia

2010-01-01

This study assessed the relationship between Deaf women's internal health locus of control (IHLC) and their cervical cancer knowledge acquisition and retention. A blind, randomized trial evaluated Deaf women's (N = 130) baseline cancer knowledge and knowledge gained and retained from an educational intervention, in relation to their IHLC. The Multidimensional Health Locus of Control scales measured baseline IHLC, and a cervical cancer knowledge survey evaluated baseline to post-intervention knowledge change. Women's IHLC did not significantly predict greater cervical cancer knowledge at baseline or over time. IHLC does not appear to be a characteristic that must be considered when creating Deaf women's cancer education programs. PMID:20229077

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

PubMed

Doucette, Lance; Merner, Nancy D; Cooke, Sandra; Ives, Elizabeth; Galutira, Dante; Walsh, Vanessa; Walsh, Tom; MacLaren, Linda; Cater, Tracey; Fernandez, Bridget; Green, Jane S; Wilcox, Edward R; Shotland, Lawrence I; Shotland, Larry; Li, Xiaoyan Cindy; Li, X C; Lee, Ming; King, Mary-Claire; Young, Terry-Lynn

2009-05-01

We studied a consanguineous family (Family A) from the island of Newfoundland with an autosomal recessive form of prelingual, profound, nonsyndromic sensorineural hearing loss. A genome-wide scan mapped the deafness trait to 10q21-22 (max LOD score of 4.0; D10S196) and fine mapping revealed a 16 Mb ancestral haplotype in deaf relatives. The PCDH15 gene was mapped within the critical region and was an interesting candidate because truncating mutations cause Usher syndrome type IF (USH1F) and two missense mutations have been previously associated with isolated deafness (DFNB23). Sequencing of the PCDH15 gene revealed 33 sequencing variants. Three of these variants were homozygous exclusively in deaf siblings but only one of them was not seen in ethnically matched controls. This novel c.1583 T>A transversion predicts an amino-acid substitution of a valine with an aspartic acid at codon 528 (V528D). Like the two DFNB23 mutations, the V528D mutation in Family A occurs in a highly conserved extracellular cadherin (EC) domain of PCDH15 and is predicted to be more deleterious than the previously identified DFNB23 missense mutations (R134G and G262D). Physical assessment, vestibular and visual function testing in deaf adults ruled out syndromic deafness because of Usher syndrome. This study validates the DFNB23 designation and supports the hypothesis that missense mutations in conserved motifs of PCDH15 cause nonsyndromic hearing loss. This emerging genotype-phenotype correlation in USH1F is similar to that in several other USH1 genes and cautions against a prognosis of a dual sensory loss in deaf children found to be homozygous for hypomorphic mutations at the USH1F locus.

Comprehensive Analysis of Tropomyosin Isoforms in Skeletal Muscles by Top-down Proteomics

PubMed Central

Jin, Yutong; Peng, Ying; Lin, Ziqing; Chen, Yi-Chen; Wei, Liming; Hacker, Timothy A.; Larsson, Lars; Ge, Ying

2016-01-01

Mammalian skeletal muscles are heterogeneous in nature and are capable of performing various functions. Tropomyosin (Tpm) is a major component of the thin filament in skeletal muscles and plays an important role in controlling muscle contraction and relaxation. Tpm is known to consist of multiple isoforms resulting from different encoding genes and alternative splicing, along with post-translational modifications. However, a systematic characterization of Tpm isoforms in skeletal muscles is still lacking. Therefore, we employed top-down mass spectrometry (MS) to identify and characterize Tpm isoforms present in different skeletal muscles from multiple species, including swine, rat, and human. Our study revealed that Tpm1.1 and Tpm2.2 are the two major Tpm isoforms in swine and rat skeletal muscles, whereas Tpm1.1, Tpm2.2, and Tpm3.12 are present in human skeletal muscles. Tandem MS was utilized to identify the sequences of the major Tpm isoforms. Furthermore, quantitative analysis revealed muscle-type specific differences in the abundance of un-modified and modified Tpm isoforms in rat and human skeletal muscles. This study represents the first systematic investigation of Tpm isoforms in skeletal muscles, which not only demonstrates the capabilities of top-down MS for the comprehensive characterization of skeletal myofilament proteins but also provides the basis for further studies on these Tpm isoforms in muscle-related diseases. PMID:27090236

Improving the experience of pregnancy and childbirth for deaf people and their families.

PubMed

Sporek, Paulina

2014-04-01

Deafness is unique in that it crosses barriers of age, gender, economic status and ethnicity. It is particularly complex in the context of the 'disabled/abled binary'. Generalisation is unhelpful since impairment is individualised and manifests itself in emotional, psychological, social and physical dimensions of a person's life. The 'Deaf Nest' project aims to improve deaf users' personal experience, equality of access, choice and control over maternity care. The implementation of clear guidance, an early assessment form, effective referrals, deaf awareness study days and 'Deaf Nest' support packs will result in improved deaf access to information, the ongoing assessment of need, improved health and lifestyle choices and greater family involvement.

Sign Vocabulary in Deaf Toddlers Exposed to Sign Language since Birth

ERIC Educational Resources Information Center

Rinaldi, Pasquale; Caselli, Maria Cristina; Di Renzo, Alessio; Gulli, Tiziana; Volterra, Virginia

2014-01-01

Lexical comprehension and production is directly evaluated for the first time in deaf signing children below the age of 3 years. A Picture Naming Task was administered to 8 deaf signing toddlers (aged 2-3 years) who were exposed to Sign Language since birth. Results were compared with data of hearing speaking controls. In both deaf and hearing…

Isoform-specific modulation of the chemical sensitivity of conserved TRPA1 channel in the major honeybee ectoparasitic mite, Tropilaelaps mercedesae

PubMed Central

Dong, Xiaofeng; Kashio, Makiko; Peng, Guangda; Wang, Xinyue; Tominaga, Makoto

2016-01-01

We identified and characterized the TRPA1 channel of Tropilaelaps mercedesae (TmTRPA1), one of two major species of honeybee ectoparasitic mite. Three TmTRPA1 isoforms with unique N-terminal sequences were activated by heat, and the isoform highly expressed in the mite's front legs, TmTRPA1b, was also activated by 27 plant-derived compounds including electrophiles. This suggests that the heat- and electrophile-dependent gating mechanisms as nocisensitive TRPA1 channel are well conserved between arthropod species. Intriguingly, one TmTRPA1 isoform, TmTRPA1a, was activated by only six compounds compared with two other isoforms, demonstrating that the N-terminal sequences are critical determinants for the chemical sensitivity. This is the first example of isoform-specific modulation of chemical sensitivity of TRPA1 channel in one species. α-terpineol showed repellent activity towards T. mercedesae in a laboratory assay and repressed T. mercedesae entry for reproduction into the brood cells with fifth instar larvae in hives. Thus, α-terpineol could be used as the potential compound to control two major honeybee ectoparasitic mites, T. mercedesae and Varroa destructor, in the apiculture industry. PMID:27307515

An acoustic analysis of laughter produced by congenitally deaf and normally hearing college students1

PubMed Central

Makagon, Maja M.; Funayama, E. Sumie; Owren, Michael J.

2008-01-01

Relatively few empirical data are available concerning the role of auditory experience in nonverbal human vocal behavior, such as laughter production. This study compared the acoustic properties of laughter in 19 congenitally, bilaterally, and profoundly deaf college students and in 23 normally hearing control participants. Analyses focused on degree of voicing, mouth position, air-flow direction, temporal features, relative amplitude, fundamental frequency, and formant frequencies. Results showed that laughter produced by the deaf participants was fundamentally similar to that produced by the normally hearing individuals, which in turn was consistent with previously reported findings. Finding comparable acoustic properties in the sounds produced by deaf and hearing vocalizers confirms the presumption that laughter is importantly grounded in human biology, and that auditory experience with this vocalization is not necessary for it to emerge in species-typical form. Some differences were found between the laughter of deaf and hearing groups; the most important being that the deaf participants produced lower-amplitude and longer-duration laughs. These discrepancies are likely due to a combination of the physiological and social factors that routinely affect profoundly deaf individuals, including low overall rates of vocal fold use and pressure from the hearing world to suppress spontaneous vocalizations. PMID:18646991

A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.

PubMed

Ezquerra, Mario; Campdelacreu, Jaume; Muñoz, Esteban; Tolosa, Eduardo; Martí, María J

2005-02-01

X-linked dystonia-deafness syndrome (Mohr-Tranebjaerg syndrome) is a rare neurodegenerative disease characterized by hearing loss and dystonia. So far, 7 mutations in the coding region of the DDP1 gene have been described. They consist of frameshift, nonsense, missense mutations or deletions. To investigate the presence of mutations in the DDP1 gene in a family with dystonia-deafness syndrome. Seven members belonging to 2 generations of a family with 2 affected subjects underwent genetic analysis. Mutational screening in the DDP1 gene was made through DNA direct sequencing. We found an intronic mutation in the DDP1 gene. It consists of an A-to-C substitution in the position -23 in reference to the first nucleotide of exon 2 (IVS1-23A>C). The mutation was present in 2 affected men and their respective unaffected mothers, whereas it was absent in the healthy men from this family and in 90 healthy controls. Intronic mutations in the DDP1 gene can also cause X-linked dystonia-deafness syndrome. In our case, the effect of the mutation could be due to a splicing alteration.

Molecular isoforms of high-mobility group box 1 are mechanistic biomarkers for epilepsy

PubMed Central

Walker, Lauren Elizabeth; Frigerio, Federica; Ravizza, Teresa; Ricci, Emanuele; Tse, Karen; Jenkins, Rosalind E.; Sills, Graeme John; Jorgensen, Andrea; Porcu, Luca; Alapirtti, Tiina; Peltola, Jukka; Brodie, Martin J.; Park, Brian Kevin; Marson, Anthony Guy; Antoine, Daniel James

2017-01-01

Approximately 30% of epilepsy patients do not respond to antiepileptic drugs, representing an unmet medical need. There is evidence that neuroinflammation plays a pathogenic role in drug-resistant epilepsy. The high-mobility group box 1 (HMGB1)/TLR4 axis is a key initiator of neuroinflammation following epileptogenic injuries, and its activation contributes to seizure generation in animal models. However, further work is required to understand the role of HMGB1 and its isoforms in epileptogenesis and drug resistance. Using a combination of animal models and sera from clinically well-characterized patients, we have demonstrated that there are dynamic changes in HMGB1 isoforms in the brain and blood of animals undergoing epileptogenesis. The pathologic disulfide HMGB1 isoform progressively increased in blood before epilepsy onset and prospectively identified animals that developed the disease. Consistent with animal data, we observed early expression of disulfide HMGB1 in patients with newly diagnosed epilepsy, and its persistence was associated with subsequent seizures. In contrast with patients with well-controlled epilepsy, patients with chronic, drug-refractory epilepsy persistently expressed the acetylated, disulfide HMGB1 isoforms. Moreover, treatment of animals with antiinflammatory drugs during epileptogenesis prevented both disease progression and blood increase in HMGB1 isoforms. Our data suggest that HMGB1 isoforms are mechanistic biomarkers for epileptogenesis and drug-resistant epilepsy in humans, necessitating evaluation in larger-scale prospective studies. PMID:28504645

Confronting the language barrier: Theory of mind in deaf children.

PubMed

Jones, Anna C; Gutierrez, Roberto; Ludlow, Amanda K

2015-01-01

The current study addressed deaf children's Theory of Mind (ToM) development as measured by a battery of first- and second-order belief tasks. Both a chronological age-matched control group and a younger group of pre-school aged hearing children were compared to a group of deaf children born to hearing parents. A hearing native signer enacted each of the tasks, which were pre-recorded in video clips in English (SSE), British Sign Language (BSL) and spoken English, in order to consider all communication preferences of the deaf children. Results revealed no differences in performance between the deaf and the young hearing children. However, despite the inclusion of ToM tasks based on their preferred mode of communication, the deaf children performed significantly worse at the unexpected-content and second-order belief task compared with their age-matched controls. These findings imply a delay rather than a deficit in ToM in deaf children that could be attributed to limited opportunities to converse and overhear conversations about mental states. None. Crown Copyright © 2015. Published by Elsevier Inc. All rights reserved.

Apolipoprotein(a) isoform size, lipoprotein(a) concentration, and coronary artery disease: a mendelian randomisation analysis.

PubMed

Saleheen, Danish; Haycock, Philip C; Zhao, Wei; Rasheed, Asif; Taleb, Adam; Imran, Atif; Abbas, Shahid; Majeed, Faisal; Akhtar, Saba; Qamar, Nadeem; Zaman, Khan Shah; Yaqoob, Zia; Saghir, Tahir; Rizvi, Syed Nadeem Hasan; Memon, Anis; Mallick, Nadeem Hayyat; Ishaq, Mohammad; Rasheed, Syed Zahed; Memon, Fazal-Ur-Rehman; Mahmood, Khalid; Ahmed, Naveeduddin; Frossard, Philippe; Tsimikas, Sotirios; Witztum, Joseph L; Marcovina, Santica; Sandhu, Manjinder; Rader, Daniel J; Danesh, John

2017-07-01

The lipoprotein(a) pathway is a causal factor in coronary heart disease. We used a genetic approach to distinguish the relevance of two distinct components of this pathway, apolipoprotein(a) isoform size and circulating lipoprotein(a) concentration, to coronary heart disease. In this mendelian randomisation study, we measured lipoprotein(a) concentration and determined apolipoprotein(a) isoform size with a genetic method (kringle IV type 2 [KIV2] repeats in the LPA gene) and a serum-based electrophoretic assay in patients and controls (frequency matched for age and sex) from the Pakistan Risk of Myocardial Infarction Study (PROMIS). We calculated odds ratios (ORs) for myocardial infarction per 1-SD difference in either LPA KIV2 repeats or lipoprotein(a) concentration. In a genome-wide analysis of up to 17 503 participants in PROMIS, we identified genetic variants associated with either apolipoprotein(a) isoform size or lipoprotein(a) concentration. Using a mendelian randomisation study design and genetic data on 60 801 patients with coronary heart disease and 123 504 controls from the CARDIoGRAMplusC4D consortium, we calculated ORs for myocardial infarction with variants that produced similar differences in either apolipoprotein(a) isoform size in serum or lipoprotein(a) concentration. Finally, we compared phenotypic versus genotypic ORs to estimate whether apolipoprotein(a) isoform size, lipoprotein(a) concentration, or both were causally associated with coronary heart disease. The PROMIS cohort included 9015 patients with acute myocardial infarction and 8629 matched controls. In participants for whom KIV2 repeat and lipoprotein(a) data were available, the OR for myocardial infarction was 0·93 (95% CI 0·90-0·97; p<0·0001) per 1-SD increment in LPA KIV2 repeats after adjustment for lipoprotein(a) concentration and conventional lipid concentrations. The OR for myocardial infarction was 1·10 (1·05-1·14; p<0·0001) per 1-SD increment in lipoprotein(a) concentration, after adjustment for LPA KIV2 repeats and conventional lipids. Genome-wide analysis identified rs2457564 as a variant associated with smaller apolipoprotein(a) isoform size, but not lipoprotein(a) concentration, and rs3777392 as a variant associated with lipoprotein(a) concentration, but not apolipoprotein(a) isoform size. In 60 801 patients with coronary heart disease and 123 504 controls, OR for myocardial infarction was 0·96 (0·94-0·98; p<0·0001) per 1-SD increment in apolipoprotein(a) protein isoform size in serum due to rs2457564, which was directionally concordant with the OR observed in PROMIS for a similar change. The OR for myocardial infarction was 1·27 (1·07-1·50; p=0·007) per 1-SD increment in lipoprotein(a) concentration due to rs3777392, which was directionally concordant with the OR observed for a similar change in PROMIS. Human genetic data suggest that both smaller apolipoprotein(a) isoform size and increased lipoprotein(a) concentration are independent and causal risk factors for coronary heart disease. Lipoprotein(a)-lowering interventions could be preferentially effective in reducing the risk of coronary heart disease in individuals with smaller apolipoprotein(a) isoforms. British Heart Foundation, US National Institutes of Health, Fogarty International Center, Wellcome Trust, UK Medical Research Council, UK National Institute for Health Research, and Pfizer. Copyright © 2017 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY-NC-ND license. Published by Elsevier Ltd.. All rights reserved.

Dissecting signalling by individual Akt/PKB isoforms, three steps at once.

PubMed

Osorio-Fuentealba, Cesar; Klip, Amira

2015-09-01

The serine/threonine kinase Akt/PKB (protein kinase B) is key for mammalian cell growth, survival, metabolism and oncogenic transformation. The diverse level and tissue expression of its three isoforms, Akt1/PKBα, Akt2/PKBβ and Akt3/PKBγ, make it daunting to identify isoform-specific actions in vivo and even in isolated tissues/cells. To date, isoform-specific knockout and knockdown have been the best strategies to dissect their individual overall functions. In a recent article in the Biochemical Journal, Kajno et al. reported a new strategy to study isoform selectivity in cell lines. Individual Akt/PKB isoforms in 3T3-L1 pre-adipocytes are first silenced via shRNA and stable cellular clones lacking one or the other isoform are selected. The stably silenced isoform is then replaced by a mutant engineered to be refractory to inhibition by MK-2206 (Akt1(W80A) or Akt2(W80A)). Akt1(W80A) or Akt2(W80A) are functional and effectively recruited to the plasma membrane in response to insulin. The system affords the opportunity to acutely control the activity of the endogenous non-silenced isoform through timely addition of MK-2206. Using this approach, it is confirmed that Akt1/PKBα is the preferred isoform sustaining adipocyte differentiation, but both Akt1/PKBα and Akt2/PKBβ can indistinctly support insulin-dependent FoxO1 (forkhead box O1) nuclear exclusion. Surprisingly, either isoform can also support insulin-dependent glucose transporter (GLUT) 4 translocation to the membrane, in contrast with the preferential role of Akt2/PKBβ assessed by knockdown studies. The new strategy should allow analysis of the plurality of Akt/PKB functions in other cells and in response to other stimuli. It should also be amenable to high-throughput studies to speed up advances in signal transmission by this pivotal kinase. © 2015 Authors; published by Portland Press Limited.

Deaf President Now and the Struggle for Deaf Control of Gallaudet University

ERIC Educational Resources Information Center

Armstrong, David F.

2014-01-01

"Deaf President Now," or DPN, should be viewed as a process, not as a single event. The forces that led to the installation of the first deaf president at Gallaudet were set in motion long before 1988, and they continued to be significant through the protests of 2006. Among the many changes wrought by the 1988 DPN movement is a…

Regulated expression of a calmodulin isoform alters growth and development in potato.

PubMed

Poovaiah, B W; Takezawa, D; An, G; Han, T J

1996-01-01

A transgene approach was taken to study the consequences of altered expression of a calmodulin isoform on plant growth and development. Eight genomic clones of potato calmodulin (PCM1 to 8) have been isolated and characterized (Takezawa et al., 1995). Among the potato calmodulin isoforms studied, PCM1 differs from the other isoforms because of its unique amino acid substitutions. Transgenic potato plants were produced carrying sense construct of PCM1 fused to the CaMV 35S promoter. Transgenic plants showing a moderate increase in PCM1 mRNA exhibited strong apical dominance, produced elongated tubers, and were taller than the controls. Interestingly, the plants expressing the highest level of PCM1 mRNA did not form underground tubers. Instead, these transgenic plants produced aerial tubers when allowed to grow for longer periods. The expression of different calmodulin isoforms (PCM1, 5, 6, and 8) was studied in transgenic plants. Among the four potato calmodulin isoforms, only the expression of PCM1 mRNA was altered in transgenic plants, while the expression of other isoforms was not significantly altered. Western analysis revealed increased PCM1 protein in transgenic plants, indicating that the expression of both mRNA and protein are altered in transgenic plants. These results suggest that increasing the expression of PCM1 alters growth and development in potato plants.

Distribution profile of inositol 1,4,5-trisphosphate receptor isoforms in adrenal chromaffin cells.

PubMed

Huh, Yang Hoon; Yoo, Jie Ae; Bahk, Sook Jin; Yoo, Seung Hyun

2005-05-09

Given the importance of inositol 1,4,5-trisphosphate receptor (IP(3)R)/Ca(2+) channels in the control of intracellular Ca(2+) concentrations, we determined the relative concentrations of the IP(3)R isoforms in subcellular organelles, based on serially sectioned electron micrographs. The endoplasmic reticulum (ER) was estimated to contain 15-20% of each of the three IP(3)R isoforms while secretory granules contained 58-69%. The nucleus contained approximately 15% each of IP(3)R-1 and -2, but 25% of IP(3)R-3, whereas the plasma membrane contained approximately 1% or less of each. These suggested that secretory granules, the nucleus and ER are at the center of IP(3)-dependent intracellular Ca(2+) control mechanisms in chromaffin cells.

DEAF-1 regulates immunity gene expression in Drosophila.

PubMed

Reed, Darien E; Huang, Xinhua M; Wohlschlegel, James A; Levine, Michael S; Senger, Kate

2008-06-17

Immunity genes are activated in the Drosophila fat body by Rel and GATA transcription factors. Here, we present evidence that an additional regulatory factor, deformed epidermal autoregulatory factor-1 (DEAF-1), also contributes to the immune response and is specifically important for the induction of two genes encoding antimicrobial peptides, Metchnikowin (Mtk) and Drosomycin (Drs). The systematic mutagenesis of a minimal Mtk 5' enhancer identified a sequence motif essential for both a response to LPS preparations in S2 cells and activation in the larval fat body in response to bacterial infection. Using affinity chromatography coupled to multidimensional protein identification technology (MudPIT), we identified DEAF-1 as a candidate regulator. DEAF-1 activates the expression of Mtk and Drs promoter-luciferase fusion genes in S2 cells. SELEX assays and footprinting data indicate that DEAF-1 binds to and activates Mtk and Drs regulatory DNAs via a TTCGGBT motif. The insertion of this motif into the Diptericin (Dpt) regulatory region confers DEAF-1 responsiveness to this normally DEAF-1-independent enhancer. The coexpression of DEAF-1 with Dorsal, Dif, and Relish results in the synergistic activation of transcription. We propose that DEAF-1 is a regulator of Drosophila immunity.

Action perception in individuals with congenital blindness or deafness: how does the loss of a sensory modality from birth affect perception-induced motor facilitation?

PubMed

Alaerts, Kaat; Swinnen, Stephan P; Wenderoth, Nicole

2011-05-01

Seeing or hearing manual actions activates the mirror neuron system, that is, specialized neurons within motor areas which fire when an action is performed but also when it is passively perceived. Using TMS, it was shown that motor cortex of typically developed subjects becomes facilitated not only from seeing others' actions, but also from merely hearing action-related sounds. In the present study, TMS was used for the first time to explore the "auditory" and "visual" responsiveness of motor cortex in individuals with congenital blindness or deafness. TMS was applied over left primary motor cortex (M1) to measure cortico-motor facilitation while subjects passively perceived manual actions (either visually or aurally). Although largely unexpected, congenitally blind or deaf subjects displayed substantially lower resonant motor facilitation upon action perception compared to seeing/hearing control subjects. Moreover, muscle-specific changes in cortico-motor excitability within M1 appeared to be absent in individuals with profound blindness or deafness. Overall, these findings strongly argue against the hypothesis that an increased reliance on the remaining sensory modality in blind or deaf subjects is accompanied by an increased responsiveness of the "auditory" or "visual" perceptual-motor "mirror" system, respectively. Moreover, the apparent lack of resonant motor facilitation for the blind and deaf subjects may challenge the hypothesis of a unitary mirror system underlying human action recognition and may suggest that action perception in blind and deaf subjects engages a mode of action processing that is different from the human action recognition system recruited in typically developed subjects.

Language abnormality in deaf people with schizophrenia: a problem with classifiers.

PubMed

Chatzidamianos, G; McCarthy, R A; Du Feu, M; Rosselló, J; McKenna, P J

2018-06-05

Although there is evidence for language abnormality in schizophrenia, few studies have examined sign language in deaf patients with the disorder. This is of potential interest because a hallmark of sign languages is their use of classifiers (semantic or entity classifiers), a reference-tracking device with few if any parallels in spoken languages. This study aimed to examine classifier production and comprehension in deaf signing adults with schizophrenia. Fourteen profoundly deaf signing adults with schizophrenia and 35 age- and IQ-matched deaf healthy controls completed a battery of tests assessing classifier and noun comprehension and production. The patients showed poorer performance than the healthy controls on comprehension and production of both nouns and entity classifiers, with the deficit being most marked in the production of classifiers. Classifier production errors affected handshape rather than other parameters such as movement and location. The findings suggest that schizophrenia affects language production in deaf patients with schizophrenia in a unique way not seen in hearing patients.

Programs for the Deaf-Blind.

ERIC Educational Resources Information Center

American Annals of the Deaf, 1991

1991-01-01

This directory lists contact information for programs for the deaf-blind in the United States in 3 categories: (1) programs for deaf-blind children and youth (29 programs listed); (2) Helen Keller National Center for Deaf-Blind Youth and Adults (1 national and 10 regional offices); and (3) programs for training teachers of the deaf-blind (4…

Role of cyclooxygenase isoforms in the altered excitatory motor pathways of human colon with diverticular disease.

PubMed

Fornai, M; Colucci, R; Antonioli, L; Ippolito, C; Segnani, C; Buccianti, P; Marioni, A; Chiarugi, M; Villanacci, V; Bassotti, G; Blandizzi, C; Bernardini, N

2014-08-01

The COX isoforms (COX-1, COX-2) regulate human gut motility, although their role under pathological conditions remains unclear. This study examines the effects of COX inhibitors on excitatory motility in colonic tissue from patients with diverticular disease (DD). Longitudinal muscle preparations, from patients with DD or uncomplicated cancer (controls), were set up in organ baths and connected to isotonic transducers. Indomethacin (COX-1/COX-2 inhibitor), SC-560 (COX-1 inhibitor) or DFU (COX-2 inhibitor) were assayed on electrically evoked, neurogenic, cholinergic and tachykininergic contractions, or carbachol- and substance P (SP)-induced myogenic contractions. Distribution and expression of COX isoforms in the neuromuscular compartment were assessed by RT-PCR, Western blot and immunohistochemical analysis. In control preparations, neurogenic cholinergic contractions were enhanced by COX inhibitors, whereas tachykininergic responses were blunted. Carbachol-evoked contractions were increased by indomethacin or SC-560, but not DFU, whereas all inhibitors reduced SP-induced motor responses. In preparations from DD patients, COX inhibitors did not affect electrically evoked cholinergic contractions. Both indomethacin and DFU, but not SC-560, decreased tachykininergic responses. COX inhibitors did not modify carbachol-evoked motor responses, whereas they counteracted SP-induced contractions. COX-1 expression was decreased in myenteric neurons, whereas COX-2 was enhanced in glial cells and smooth muscle. In control colon, COX-1 and COX-2 down-regulate cholinergic motility, whereas both isoforms enhance tachykininergic motor activity. In the presence of DD, there is a loss of modulation by both COX isoforms on the cholinergic system, whereas COX-2 displays an enhanced facilitatory control on tachykininergic contractile activity. © 2014 The British Pharmacological Society.

Role of cyclooxygenase isoforms in the altered excitatory motor pathways of human colon with diverticular disease

PubMed Central

Fornai, M; Colucci, R; Antonioli, L; Ippolito, C; Segnani, C; Buccianti, P; Marioni, A; Chiarugi, M; Villanacci, V; Bassotti, G; Blandizzi, C; Bernardini, N

2014-01-01

BACKGROUND AND PURPOSE The COX isoforms (COX-1, COX-2) regulate human gut motility, although their role under pathological conditions remains unclear. This study examines the effects of COX inhibitors on excitatory motility in colonic tissue from patients with diverticular disease (DD). EXPERIMENTAL APPROACH Longitudinal muscle preparations, from patients with DD or uncomplicated cancer (controls), were set up in organ baths and connected to isotonic transducers. Indomethacin (COX-1/COX-2 inhibitor), SC-560 (COX-1 inhibitor) or DFU (COX-2 inhibitor) were assayed on electrically evoked, neurogenic, cholinergic and tachykininergic contractions, or carbachol- and substance P (SP)-induced myogenic contractions. Distribution and expression of COX isoforms in the neuromuscular compartment were assessed by RT-PCR, Western blot and immunohistochemical analysis. KEY RESULTS In control preparations, neurogenic cholinergic contractions were enhanced by COX inhibitors, whereas tachykininergic responses were blunted. Carbachol-evoked contractions were increased by indomethacin or SC-560, but not DFU, whereas all inhibitors reduced SP-induced motor responses. In preparations from DD patients, COX inhibitors did not affect electrically evoked cholinergic contractions. Both indomethacin and DFU, but not SC-560, decreased tachykininergic responses. COX inhibitors did not modify carbachol-evoked motor responses, whereas they counteracted SP-induced contractions. COX-1 expression was decreased in myenteric neurons, whereas COX-2 was enhanced in glial cells and smooth muscle. CONCLUSIONS AND IMPLICATIONS In control colon, COX-1 and COX-2 down-regulate cholinergic motility, whereas both isoforms enhance tachykininergic motor activity. In the presence of DD, there is a loss of modulation by both COX isoforms on the cholinergic system, whereas COX-2 displays an enhanced facilitatory control on tachykininergic contractile activity. PMID:24758697

Child implant users' imitation of happy- and sad-sounding speech

PubMed Central

Wang, David J.; Trehub, Sandra E.; Volkova, Anna; van Lieshout, Pascal

2013-01-01

Cochlear implants have enabled many congenitally or prelingually deaf children to acquire their native language and communicate successfully on the basis of electrical rather than acoustic input. Nevertheless, degraded spectral input provided by the device reduces the ability to perceive emotion in speech. We compared the vocal imitations of 5- to 7-year-old deaf children who were highly successful bilateral implant users with those of a control sample of children who had normal hearing. First, the children imitated several happy and sad sentences produced by a child model. When adults in Experiment 1 rated the similarity of imitated to model utterances, ratings were significantly higher for the hearing children. Both hearing and deaf children produced poorer imitations of happy than sad utterances because of difficulty matching the greater pitch modulation of the happy versions. When adults in Experiment 2 rated electronically filtered versions of the utterances, which obscured the verbal content, ratings of happy and sad utterances were significantly differentiated for deaf as well as hearing children. The ratings of deaf children, however, were significantly less differentiated. Although deaf children's utterances exhibited culturally typical pitch modulation, their pitch modulation was reduced relative to that of hearing children. One practical implication is that therapeutic interventions for deaf children could expand their focus on suprasegmental aspects of speech perception and production, especially intonation patterns. PMID:23801976

Young Skilled Deaf Readers Have an Enhanced Perceptual Span in Reading.

PubMed

Bélanger, Nathalie N; Lee, Michelle; Schotter, Elizabeth R

2017-04-27

Recently, Bélanger, Slattery, Mayberry and Rayner (2012) showed, using the moving window paradigm, that profoundly deaf adults have a wider perceptual span during reading relative to hearing adults matched on reading level. This difference might be related to the fact that deaf adults allocate more visual attention to simple stimuli in the parafovea (Bavelier, Dye & Hauser, 2006). Importantly, this reorganization of visual attention in deaf individuals is already manifesting in deaf children (Dye, Hauser & Bavelier, 2009). This leads to questions about the time course of the emergence of an enhanced perceptual span (which is under attentional control; Rayner, 2014; Miellet, O'Donnell, & Sereno, 2009) in young deaf readers. The present research addressed this question by comparing the perceptual spans of young deaf readers (age 7-15) and young hearing children (age 7-15). Young deaf readers, like deaf adults, were found to have a wider perceptual span relative to their hearing peers matched on reading level, suggesting that strong and early reorganization of visual attention in deaf individuals goes beyond the processing of simple visual stimuli and emerges into more cognitively complex tasks, such as reading.

Distinct Domains of CheA Confer Unique Functions in Chemotaxis and Cell Length in Azospirillum brasilense Sp7.

PubMed

Gullett, Jessica M; Bible, Amber; Alexandre, Gladys

2017-07-01

Chemotaxis is the movement of cells in response to gradients of diverse chemical cues. Motile bacteria utilize a conserved chemotaxis signal transduction system to bias their motility and navigate through a gradient. A central regulator of chemotaxis is the histidine kinase CheA. This cytoplasmic protein interacts with membrane-bound receptors, which assemble into large polar arrays, to propagate the signal. In the alphaproteobacterium Azospirillum brasilense , Che1 controls transient increases in swimming speed during chemotaxis, but it also biases the cell length at division. However, the exact underlying molecular mechanisms for Che1-dependent control of multiple cellular behaviors are not known. Here, we identify specific domains of the CheA1 histidine kinase implicated in modulating each of these functions. We show that CheA1 is produced in two isoforms: a membrane-anchored isoform produced as a fusion with a conserved seven-transmembrane domain of unknown function (TMX) at the N terminus and a soluble isoform similar to prototypical CheA. Site-directed and deletion mutagenesis combined with behavioral assays confirm the role of CheA1 in chemotaxis and implicate the TMX domain in mediating changes in cell length. Fluorescence microscopy further reveals that the membrane-anchored isoform is distributed around the cell surface while the soluble isoform localizes at the cell poles. Together, the data provide a mechanism for the role of Che1 in controlling multiple unrelated cellular behaviors via acquisition of a new domain in CheA1 and production of distinct functional isoforms. IMPORTANCE Chemotaxis provides a significant competitive advantage to bacteria in the environment, and this function has been transferred laterally multiple times, with evidence of functional divergence in different genomic contexts. The molecular principles that underlie functional diversification of chemotaxis in various genomic contexts are unknown. Here, we provide a molecular mechanism by which a single CheA protein controls two unrelated functions: chemotaxis and cell length. Acquisition of this multifunctionality is seemingly a recent evolutionary event. The findings illustrate a mechanism by which chemotaxis function may be co-opted to regulate additional cellular functions. Copyright © 2017 American Society for Microbiology.

Distinct Domains of CheA Confer Unique Functions in Chemotaxis and Cell Length in Azospirillum brasilense Sp7

PubMed Central

Gullett, Jessica M.

2017-01-01

ABSTRACT Chemotaxis is the movement of cells in response to gradients of diverse chemical cues. Motile bacteria utilize a conserved chemotaxis signal transduction system to bias their motility and navigate through a gradient. A central regulator of chemotaxis is the histidine kinase CheA. This cytoplasmic protein interacts with membrane-bound receptors, which assemble into large polar arrays, to propagate the signal. In the alphaproteobacterium Azospirillum brasilense, Che1 controls transient increases in swimming speed during chemotaxis, but it also biases the cell length at division. However, the exact underlying molecular mechanisms for Che1-dependent control of multiple cellular behaviors are not known. Here, we identify specific domains of the CheA1 histidine kinase implicated in modulating each of these functions. We show that CheA1 is produced in two isoforms: a membrane-anchored isoform produced as a fusion with a conserved seven-transmembrane domain of unknown function (TMX) at the N terminus and a soluble isoform similar to prototypical CheA. Site-directed and deletion mutagenesis combined with behavioral assays confirm the role of CheA1 in chemotaxis and implicate the TMX domain in mediating changes in cell length. Fluorescence microscopy further reveals that the membrane-anchored isoform is distributed around the cell surface while the soluble isoform localizes at the cell poles. Together, the data provide a mechanism for the role of Che1 in controlling multiple unrelated cellular behaviors via acquisition of a new domain in CheA1 and production of distinct functional isoforms. IMPORTANCE Chemotaxis provides a significant competitive advantage to bacteria in the environment, and this function has been transferred laterally multiple times, with evidence of functional divergence in different genomic contexts. The molecular principles that underlie functional diversification of chemotaxis in various genomic contexts are unknown. Here, we provide a molecular mechanism by which a single CheA protein controls two unrelated functions: chemotaxis and cell length. Acquisition of this multifunctionality is seemingly a recent evolutionary event. The findings illustrate a mechanism by which chemotaxis function may be co-opted to regulate additional cellular functions. PMID:28416707

Analysis of globotriaosylceramide (Gb3) isoforms/analogs in unfractionated leukocytes, B lymphocytes and monocytes from Fabry patients using ultra-high performance liquid chromatography/tandem mass spectrometry.

PubMed

Toupin, Amanda; Lavoie, Pamela; Arthus, Marie-Françoise; Abaoui, Mona; Boutin, Michel; Fortier, Carole; Ménard, Claudia; Bichet, Daniel G; Auray-Blais, Christiane

2018-07-26

Fabry disease is an X-linked lysosomal storage disorder with marked variability in the phenotype and genotype. Glycosphingolipids such as globotriaosylceramide (Gb 3 ) isoforms/analogs, globotriaosylsphingosine (lyso-Gb 3 ) and analogs, and galabiosylceramide (Ga 2 ) isoforms/analogs may accumulate in biological fluids and different organs. The aims of this study were to: 1) develop/validate a novel UHPLC-MS/MS method for relative quantitation of Gb 3 in leukocytes (unfractionated white blood cells), B lymphocytes and monocytes; 2) evaluate these biomarkers in a cohort of Fabry patients and healthy controls; and 3) assess correlations between these biomarkers, treatment and genotype. Whole blood, plasma and urine samples from 21 Fabry patients and 20 healthy controls were analyzed. Samples were purified by liquid-liquid extraction and analyzed by UHPLC-MS/MS in positive electrospray ionization. Methylated Gb 3 isoforms were detected, showing that a methylation process occurs at the cellular level. Our results show that there were no significant differences in the distribution of the different Gb 3 isoforms/analogs in blood cells between Fabry patients and healthy controls. In leukocyte, Gb 3 [(d18:1)(C14:0)], Gb 3 [(d18:1)(C16:0)], Gb 3 [(d18:1)(C16:0)]Me, Gb 3 [(d18:1)(C16:1)], Gb 3 [(d18:1)(C18:0)], Gb 3 [(d18:1)(C18:1)], Gb 3 [(d18:1)(C20:1)], Gb 3 [(d18:1)(C24:2)], Gb 3 [(d18:1)(C26:1)] and total Gb 3 allowed good discrimination between male Fabry patients and male controls, patients having higher biomarker levels than controls. Regarding B lymphocytes and monocytes, the same tendency was observed without reaching statistical significance. A positive concordance between mutation types and biomarker levels in white blood cells was established. Our results might provide a deeper mechanistic comprehension of the underlying biochemical processes of Gb 3 biomarkers in white blood cells of Fabry patients. Copyright © 2018 Elsevier B.V. All rights reserved.

Diagnostic Accuracy of Cerebrospinal Fluid Amyloid-β Isoforms for Early and Differential Dementia Diagnosis.

PubMed

Struyfs, Hanne; Van Broeck, Bianca; Timmers, Maarten; Fransen, Erik; Sleegers, Kristel; Van Broeckhoven, Christine; De Deyn, Peter P; Streffer, Johannes R; Mercken, Marc; Engelborghs, Sebastiaan

2015-01-01

Overlapping cerebrospinal fluid biomarkers (CSF) levels between Alzheimer's disease (AD) and non-AD patients decrease differential diagnostic accuracy of the AD core CSF biomarkers. Amyloid-β (Aβ) isoforms might improve the AD versus non-AD differential diagnosis. To determine the added diagnostic value of Aβ isoforms, Aβ(1-37), Aβ(1-38), and Aβ(1-40), as compared to the AD CSF biomarkers Aβ(1-42), T-tau, and P-tau(181P). CSF from patients with dementia due to AD (n = 50), non-AD dementias (n = 50), mild cognitive impairment due to AD (n = 50) and non-demented controls (n = 50) was analyzed with a prototype multiplex assay using MSD detection technology. The non-AD group consisted of frontotemporal dementia (FTD; n = 17), dementia with Lewy bodies (DLB; n = 17), and vascular dementia (n = 16). Aβ(1-37) and Aβ(1-38) increased accuracy to differentiate AD from FTD or DLB. Aβ(1-37), Aβ(1-38), and Aβ(1-40) levels correlated with Mini-Mental State Examination scores and disease duration in dementia due to AD. The Aβ(1-42)/Aβ(1-40) ratio improved diagnostic performance of Aβ(1-42) in most differential diagnostic situations. Aβ(1-42) levels were lower in APOE ε4 carriers compared to non-carriers. Aβ isoforms help to differentiate AD from FTD and DLB. Aβ isoforms increase diagnostic performance of Aβ(1-42). In contrast to Aβ1-42, Aβ isoforms seem to be correlated with disease severity in AD. Adding the Aβ isoforms to the current biomarker panel could enhance diagnostic accuracy.

Visual working memory in deaf children with diverse communication modes: improvement by differential outcomes.

PubMed

López-Crespo, Ginesa; Daza, María Teresa; Méndez-López, Magdalena

2012-01-01

Although visual functions have been proposed to be enhanced in deaf individuals, empirical studies have not yet established clear evidence on this issue. The present study aimed to determine whether deaf children with diverse communication modes had superior visual memory and whether their performance was improved by the use of differential outcomes. Severely or profoundly deaf children who employed spoken Spanish, Spanish Sign Language (SSL), and both spoken Spanish and SSL modes of communication were tested in a delayed matching-to-sample task for visual working memory assessment. Hearing controls were used to compare performance. Participants were tested in two conditions, differential outcome and non-differential outcome conditions. Deaf groups with either oral or SSL modes of communication completed the task with less accuracy than bilingual and control hearing children. In addition, the performances of all groups improved through the use of differential outcomes. Copyright © 2011 Elsevier Ltd. All rights reserved.

Suicide in deaf populations: a literature review.

PubMed

Turner, Oliver; Windfuhr, Kirsten; Kapur, Navneet

2007-10-08

Studies have found that deaf individuals have higher rates of psychiatric disorder than those who are hearing, while at the same time encountering difficulties in accessing mental health services. These factors might increase the risk of suicide. However, the burden of suicidal behaviour in deaf people is currently unknown. The aim of the present review was to provide a summary of literature on suicidal behaviour with specific reference to deaf individuals. The objectives of the review were to establish the incidence and prevalence of suicidal behaviour in deaf populations; describe risk factors for suicidal behaviour in deaf populations; describe approaches to intervention and suicide prevention that have been used in deaf populations. A number of electronic databases (e.g. Medline, PsycINFO, CINAHL, EMBASE, Dissertation Abstracts International, Web of Science, ComDisDome, ASSIA, Education Sage Full Text, Google Scholar, and the grey literature databases FADE and SIGLE) were explored using a combination of key words and medical subject headings as search terms. Reference lists of papers were also searched. The Science and Social Sciences Citation Index electronic databases were used to identify studies that had cited key papers. We also contacted experts and organisations with an interest in the field. Very few studies focussed specifically on suicide in deaf populations. Those studies that were included (n = 13) generally involved small and unrepresentative samples. There were limited data on the rate of suicidal behaviour in deaf people. One study reported evidence of hearing impairment in 0.2% of all suicide deaths. Another found that individuals with tinnitus seen in specialist clinics had an elevated rate of suicide compared to the general population. The rates of attempted suicide in deaf school and college students during the previous year ranged from 1.7% to 18%, with lifetime rates as high as 30%. Little evidence was found to suggest that risk factors for suicide in deaf people differed systematically from those in the general population. However, studies did report higher levels of depression and higher levels of perceived risk among deaf individuals than hearing control groups. No firm evidence was found regarding the effectiveness of suicide prevention strategies in deaf people, but suggested strategies include developing specific screening tools, training clinical staff, promoting deaf awareness, increasing the availability of specialist mental health services for deaf people. There is a significant gap in our understanding of suicide in deaf populations. Clinicians should be aware of the possible association between suicide and deafness. Specialist mental health services should be readily accessible to deaf individuals and specific preventative strategies may be of benefit. However, further research using a variety of study designs is needed to increase our understanding of this issue.

Behavioral and neural evidence of increased attention to the bottom half of the face in deaf signers

PubMed Central

Mitchell, Teresa V.; Letourneau, Susan M.; Maslin, Melissa T.

2013-01-01

Purpose This study examined the effects of deafness and sign language use on the distribution of attention across the top and bottom halves of faces. Methods In a composite face task, congenitally deaf signers and typically hearing controls made same/different judgments of the top or bottom halves of faces presented with the halves aligned or spatially misaligned, while event-related potentials (ERPs) were recorded. Results Both groups were more accurate when judging misaligned than aligned faces, which indicates holistic face processing. Misalignment affected all ERP components examined, with effects on the N170 resembling those of face inversion. Hearing adults were similarly accurate when judging the top and bottom halves of the faces, but deaf signers were more accurate when attending to the bottom than the top. Attending to the top elicited faster P1 and N170 latencies for both groups; within the deaf group, this effect was greatest for individuals who produced the highest accuracies when attending to the top. Conclusions These findings dovetail with previous research by providing behavioral and neural evidence of increased attention to the bottom half of the face in deaf signers, and by documenting that these effects generalize to a speeded task, in the absence of gaze shifts, with neutral facial expressions. PMID:23142816

Behavioral and neural evidence of increased attention to the bottom half of the face in deaf signers.

PubMed

Mitchell, Teresa V; Letourneau, Susan M; Maslin, Melissa C T

2013-01-01

This study examined the effects of deafness and sign language use on the distribution of attention across the top and bottom halves of faces. In a composite face task, congenitally deaf signers and typically hearing controls made same/different judgments of the top or bottom halves of faces presented with the halves aligned or spatially misaligned, while event-related potentials (ERPs) were recorded. Both groups were more accurate when judging misaligned than aligned faces, which indicates holistic face processing. Misalignment affected all ERP components examined, with effects on the N170 resembling those of face inversion. Hearing adults were similarly accurate when judging the top and bottom halves of the faces, but deaf signers were more accurate when attending to the bottom than the top. Attending to the top elicited faster P1 and N170 latencies for both groups; within the deaf group, this effect was greatest for individuals who produced the highest accuracies when attending to the top. These findings dovetail with previous research by providing behavioral and neural evidence of increased attention to the bottom half of the face in deaf signers, and by documenting that these effects generalize to a speeded task, in the absence of gaze shifts, with neutral facial expressions.

Plasma membrane calcium ATPases and related disorders.

PubMed

Giacomello, Marta; De Mario, Agnese; Scarlatti, Chiara; Primerano, Simona; Carafoli, Ernesto

2013-03-01

The plasma membrane Ca(2+) ATPases (PMCA pumps) cooperate with other transport systems in the plasma membrane and in the organelles in the regulation of cell Ca(2+). They have high Ca(2+) affinity and are thus the fine tuners of cytosolic Ca(2+). They belong to the superfamily of P-type ATPases: their four basic isoforms share the essential properties of the reaction cycle and the general membrane topography motif of 10 transmembrane domains and three large cytosolic units. However they also differ in other important properties, e.g., tissue distribution and regulatory mechanisms. Their chief regulator is calmodulin, that removes their C-terminal cytosolic tail from autoinhibitory binding sites next to the active site of the pump, restoring activity. The number of pump isoforms is increased to over 30 by alternative splicing of the transcripts at a N-terminal site (site A) and at site C within the C-terminal calmodulin binding domain: the splice variants are tissue specific and developmentally regulated. The importance of PMCAs in the maintenance of cellular Ca(2+) homeostasis is underlined by the disease phenotypes, genetic or acquired, caused by their malfunction. Non-genetic PMCA deficiencies have long been considered possible causative factors in disease conditions as important as cancer, hypertension, or neurodegeneration. Those of genetic origin are better characterized: some have now been discovered in humans as well. They concern all four PMCA isoforms, and range from cardiac dysfunctions, to deafness, to hypertension, to cerebellar ataxia. Copyright © 2012 Elsevier Ltd. All rights reserved.

Prevalence of Overweight among Deaf Children

ERIC Educational Resources Information Center

Dair, Jessica; Ellis, M. Kathleen; Lieberman, Lauren J.

2006-01-01

The study examined the prevalence of overweight cases in a sample of 151 deaf children aged 6-11 years. Participants were deaf students attending six elementary schools, both regular and special, in four states. Body mass index (BMI) was calculated using height and weight, plotted on the Center for Disease Control and Prevention (CDC) U.S.…

Sociomoral Reasoning in Congenitally Deaf Children as a Function of Cognitive Maturity.

ERIC Educational Resources Information Center

Markoulis, Diomedes; Christoforou, Maria

1991-01-01

Compares the operational and sociomoral reasoning maturity of 70 deaf children with that of a sensory unimpaired control sample. Tests subjects individually on three Piagetian tasks, story pairs, and the concept of justice. Finds slower development of operational reasoning in the deaf children but comparable development in sociomoral reasoning.…

Metaphor Comprehension by Deaf Young Adults

ERIC Educational Resources Information Center

Gold, Rinat; Segal, Osnat

2017-01-01

In the present study, we compared the processing of both conventional and novel metaphors by deaf versus hearing young adults. Eighteen deaf participants with severe-to-profound hearing loss and 18 controls matched for age, sex, and years of education were presented with word pairs of 4 types (literal, conventional metaphors, novel metaphors, and…

Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel

DOE Office of Scientific and Technical Information (OSTI.GOV)

Scott, D.A.; Sheffield, V.C.; Stone, E.M.

1995-10-01

Nonsyndromic deafness accounts for {approximately}70% of all genetically determined deafness. Several types of nonsyndromic deafness, with a variety of inheritance patterns, have been genetically linked, including dominant, recessive and X-linked forms. Two of these forms - DFNA3, a dominant form causing moderate to severe hearing loss, predominantly in the high frequencies, and DFNB1, a recessive form causing profound, prelingual, neurosensory deafness affecting all frequencies - have been linked to the same pericentromeric region of chromosome 13. This finding is equally compatible with (1) the existence two closely linked deafness genes, (2) different mutations within a single deafness gene, and (3)more » a single mutation in a single gene that behaves differently in different genetic backgrounds. 12 refs., 2 figs., 1 tab.« less

Impaired learning of event frequencies in tone deafness

PubMed Central

Loui, Psyche; Schlaug, Gottfried

2013-01-01

Musical knowledge is ubiquitous, effortless, and implicitly acquired all over the world via exposure to musical materials in one’s culture. In contrast, one group of individuals who show insensitivity to music, specifically the inability to discriminate pitches and melodies, is the tone-deaf. In this study, we asked whether difficulties in pitch and melody discrimination among the tone-deaf could be related to learning difficulties, and, if so, what processes of learning might be affected in the tone-deaf. We investigated the learning of frequency information in a new musical system in tone-deaf individuals and matched controls. Results showed significantly impaired learning abilities in frequency matching in the tone-deaf. This impairment was positively correlated with the severity of tone deafness as assessed by the Montreal Battery for Evaluation of Amusia. Taken together, the results suggest that tone deafness is characterized by an impaired ability to acquire frequency information from pitched materials in the sound environment. PMID:22524379

Impaired learning of event frequencies in tone deafness.

PubMed

Loui, Psyche; Schlaug, Gottfried

2012-04-01

Musical knowledge is ubiquitous, effortless, and implicitly acquired all over the world via exposure to musical materials in one's culture. In contrast, one group of individuals who show insensitivity to music, specifically the inability to discriminate pitches and melodies, is the tone-deaf. In this study, we asked whether difficulties in pitch and melody discrimination among the tone-deaf could be related to learning difficulties, and, if so, what processes of learning might be affected in the tone-deaf. We investigated the learning of frequency information in a new musical system in tone-deaf individuals and matched controls. Results showed significantly impaired learning abilities in frequency matching in the tone-deaf. This impairment was positively correlated with the severity of tone deafness as assessed by the Montreal Battery for Evaluation of Amusia. Taken together, the results suggest that tone deafness is characterized by an impaired ability to acquire frequency information from pitched materials in the sound environment. © 2012 New York Academy of Sciences.

Reading Efficiency of Deaf and Hearing People in Spanish.

PubMed

Moreno-Pérez, Francisco J; Saldaña, David; Rodríguez-Ortiz, Isabel R

2015-10-01

Different studies have showed poor reading performance in the deaf compared to the hearing population. This has overshadowed the fact that a minority of deaf children learns to read successfully and reaches levels similar to their hearing peers. We analyze whether deaf people deploy the same cognitive and learning processes in reading as their hearing peers. For this purpose, we analyzed the relation between phonological processing, speechreading, vocabulary, reading speed, and accuracy with reading efficiency in a sample of deaf people and two control groups respectively matched on chronological age and reading level. The results indicate that deaf people's level of reading efficiency is lower than hearing people's of the same age, but that deafness status in itself is not a good predictor of reading level. The results do not support the idea that deaf people's reading is the result of different processes from the hearing population. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

The Related Transcriptional Enhancer Factor-1 Isoform, TEAD4216, Can Repress Vascular Endothelial Growth Factor Expression in Mammalian Cells

PubMed Central

Appukuttan, Binoy; McFarland, Trevor J.; Stempel, Andrew; Kassem, Jean B.; Hartzell, Matthew; Zhang, Yi; Bond, Derek; West, Kelsey; Wilson, Reid; Stout, Andrew; Pan, Yuzhen; Ilias, Hoda; Robertson, Kathryn; Klein, Michael L.; Wilson, David; Smith, Justine R.; Stout, J. Timothy

2012-01-01

Increased cellular production of vascular endothelial growth factor (VEGF) is responsible for the development and progression of multiple cancers and other neovascular conditions, and therapies targeting post-translational VEGF products are used in the treatment of these diseases. Development of methods to control and modify the transcription of the VEGF gene is an alternative approach that may have therapeutic potential. We have previously shown that isoforms of the transcriptional enhancer factor 1-related (TEAD4) protein can enhance the production of VEGF. In this study we describe a new TEAD4 isoform, TEAD4216, which represses VEGF promoter activity. The TEAD4216 isoform inhibits human VEGF promoter activity and does not require the presence of the hypoxia responsive element (HRE), which is the sequence critical to hypoxia inducible factor (HIF)-mediated effects. The TEAD4216 protein is localized to the cytoplasm, whereas the enhancer isoforms are found within the nucleus. The TEAD4216 isoform can competitively repress the stimulatory activity of the TEAD4434 and TEAD4148 enhancers. Synthesis of the native VEGF165 protein and cellular proliferation is suppressed by the TEAD4216 isoform. Mutational analysis indicates that nuclear or cytoplasmic localization of any isoform determines whether it acts as an enhancer or repressor, respectively. The TEAD4216 isoform appears to inhibit VEGF production independently of the HRE required activity by HIF, suggesting that this alternatively spliced isoform of TEAD4 may provide a novel approach to treat VEGF-dependent diseases. PMID:22761647

Non-verbal IQ is correlated with visual field advantages for short duration coherent motion detection in deaf signers with varied ASL exposure and etiologies of deafness.

PubMed

Samar, Vincent J; Parasnis, Ila

2007-12-01

Studies have reported a right visual field (RVF) advantage for coherent motion detection by deaf and hearing signers but not non-signers. Yet two studies [Bosworth R. G., & Dobkins, K. R. (2002). Visual field asymmetries for motion processing in deaf and hearing signers. Brain and Cognition, 49, 170-181; Samar, V. J., & Parasnis, I. (2005). Dorsal stream deficits suggest hidden dyslexia among deaf poor readers: Correlated evidence from reduced perceptual speed and elevated coherent motion detection thresholds. Brain and Cognition, 58, 300-311.] reported a small, non-significant RVF advantage for deaf signers when short duration motion stimuli were used (200-250 ms). Samar and Parasnis (2005) reported that this small RVF advantage became significant when non-verbal IQ was statistically controlled. This paper presents extended analyses of the correlation between non-verbal IQ and visual field asymmetries in the data set of Samar and Parasnis (2005). We speculate that this correlation might plausibly be driven by individual differences either in age of acquisition of American Sign Language (ASL) or in the degree of neurodevelopmental insult associated with various etiologies of deafness. Limited additional analyses are presented that indicate a need for further research on the cause of this apparent IQ-laterality relationship. Some potential implications of this relationship for lateralization studies of deaf signers are discussed. Controlling non-verbal IQ may improve the reliability of short duration coherent motion tasks to detect adaptive dorsal stream lateralization due to exposure to ASL in deaf research participants.

Detection of VEGF-A(xxx)b isoforms in human tissues.

PubMed

Bates, David O; Mavrou, Athina; Qiu, Yan; Carter, James G; Hamdollah-Zadeh, Maryam; Barratt, Shaney; Gammons, Melissa V; Millar, Ann B; Salmon, Andrew H J; Oltean, Sebastian; Harper, Steven J

2013-01-01

Vascular Endothelial Growth Factor-A (VEGF-A) can be generated as multiple isoforms by alternative splicing. Two families of isoforms have been described in humans, pro-angiogenic isoforms typified by VEGF-A165a, and anti-angiogenic isoforms typified by VEGF-A165b. The practical determination of expression levels of alternative isoforms of the same gene may be complicated by experimental protocols that favour one isoform over another, and the use of specific positive and negative controls is essential for the interpretation of findings on expression of the isoforms. Here we address some of the difficulties in experimental design when investigating alternative splicing of VEGF isoforms, and discuss the use of appropriate control paradigms. We demonstrate why use of specific control experiments can prevent assumptions that VEGF-A165b is not present, when in fact it is. We reiterate, and confirm previously published experimental design protocols that demonstrate the importance of using positive controls. These include using known target sequences to show that the experimental conditions are suitable for PCR amplification of VEGF-A165b mRNA for both q-PCR and RT-PCR and to ensure that mispriming does not occur. We also provide evidence that demonstrates that detection of VEGF-A165b protein in mice needs to be tightly controlled to prevent detection of mouse IgG by a secondary antibody. We also show that human VEGF165b protein can be immunoprecipitated from cultured human cells and that immunoprecipitating VEGF-A results in protein that is detected by VEGF-A165b antibody. These findings support the conclusion that more information on the biology of VEGF-A165b isoforms is required, and confirm the importance of the experimental design in such investigations, including the use of specific positive and negative controls.

A pilot program in rural telepsychiatry for deaf and hard of hearing populations.

PubMed

Crowe, Teresa; Jani, Suni; Jani, Sushma; Jani, Niranjan; Jani, Raja

2016-03-01

Access to mental health care in deaf communities is limited by cultural considerations, availability of translators, and technological considerations. Telepsychiatry can mitigate the deaf community's lack of access to care by allowing for deaf individuals in remote communities access to care with facilities that cater to their needs. Community Behavioral Health, Arundel Lodge, and Gallaudet University worked in conjunction to test three hypotheses: 1.Telepsychiatry will be as effective as traditional face-to-face psychotherapy with deaf adults who have chronic mental illness.2.Patients living in remote locations will report an improvement in accessibility to mental health services.3.Patients who receive telepsychiatry will report a comparable level of satisfaction of services to those receiving traditional services. The patient sample consisted of 24 participants, 13 women, 11 men. Telepsychiatry sessions were scheduled based on each patient's individual treatment plan against a control group who saw their providers face to face. The telepsychiatry and in-person groups were slightly different at baseline. Analysis of the data revealed no significant difference in coping abilities and psychiatric symptoms between those receiving face-to-face psychotherapy and those receiving telepsychiatry. The quality and outcome of care was equal to in-person for the telepsychiatry in deaf patients. Since telepsychiatry does not compromise the quality of care, it is a good means of reaching out to members of the deaf community that cannot readily access mental health resources that meet their needs.

Differential regulation of protein phosphatase 1 (PP1) isoforms in human heart failure and atrial fibrillation.

PubMed

Meyer-Roxlau, Stefanie; Lämmle, Simon; Opitz, Annett; Künzel, Stephan; Joos, Julius P; Neef, Stefan; Sekeres, Karolina; Sossalla, Samuel; Schöndube, Friedrich; Alexiou, Konstantin; Maier, Lars S; Dobrev, Dobromir; Guan, Kaomei; Weber, Silvio; El-Armouche, Ali

2017-07-01

Protein phosphatase 1 (PP1) is a key regulator of important cardiac signaling pathways. Dysregulation of PP1 has been heavily implicated in cardiac dysfunctions. Accordingly, pharmacological targeting of PP1 activity is considered for therapeutic intervention in human cardiomyopathies. Recent evidence from animal models implicated previously unrecognized, isoform-specific activities of PP1 in the healthy and diseased heart. Therefore, this study examined the expression of the distinct PP1 isoforms PP1α, β, and γ in human heart failure (HF) and atrial fibrillation (AF) and addressed the consequences of β-adrenoceptor blocker (beta-blocker) therapy for HF patients with reduced ejection fraction on PP1 isoform expression. Using western blot analysis, we found greater abundance of PP1 isoforms α and γ but unaltered PP1β levels in left ventricular myocardial tissues from HF patients as compared to non-failing controls. However, expression of all three PP1 isoforms was higher in atrial appendages from patients with AF compared to patients with sinus rhythm. Moreover, we found that in human failing ventricles, beta-blocker therapy was associated with lower PP1α abundance and activity, as indicated by higher phosphorylation of the PP1α-specific substrate eIF2α. Greater eIF2α phosphorylation is a known repressor of protein translation, and accordingly, we found lower levels of the endoplasmic reticulum (ER) stress marker Grp78 in the very same samples. We propose that isoform-specific targeting of PP1α activity may be a novel and innovative therapeutic strategy for the treatment of human cardiac diseases by reducing ER stress conditions.

A visual processing advantage for young-adolescent deaf observers: Evidence from face and object matching tasks

PubMed Central

Megreya, Ahmed M.; Bindemann, Markus

2017-01-01

It is unresolved whether the permanent auditory deprivation that deaf people experience leads to the enhanced visual processing of faces. The current study explored this question with a matching task in which observers searched for a target face among a concurrent lineup of ten faces. This was compared with a control task in which the same stimuli were presented upside down, to disrupt typical face processing, and an object matching task. A sample of young-adolescent deaf observers performed with higher accuracy than hearing controls across all of these tasks. These results clarify previous findings and provide evidence for a general visual processing advantage in deaf observers rather than a face-specific effect. PMID:28117407

Brain-based individual difference measures of reading skill in deaf and hearing adults.

PubMed

Mehravari, Alison S; Emmorey, Karen; Prat, Chantel S; Klarman, Lindsay; Osterhout, Lee

2017-07-01

Most deaf children and adults struggle to read, but some deaf individuals do become highly proficient readers. There is disagreement about the specific causes of reading difficulty in the deaf population, and consequently, disagreement about the effectiveness of different strategies for teaching reading to deaf children. Much of the disagreement surrounds the question of whether deaf children read in similar or different ways as hearing children. In this study, we begin to answer this question by using real-time measures of neural language processing to assess if deaf and hearing adults read proficiently in similar or different ways. Hearing and deaf adults read English sentences with semantic, grammatical, and simultaneous semantic/grammatical errors while event-related potentials (ERPs) were recorded. The magnitude of individuals' ERP responses was compared to their standardized reading comprehension test scores, and potentially confounding variables like years of education, speechreading skill, and language background of deaf participants were controlled for. The best deaf readers had the largest N400 responses to semantic errors in sentences, while the best hearing readers had the largest P600 responses to grammatical errors in sentences. These results indicate that equally proficient hearing and deaf adults process written language in different ways, suggesting there is little reason to assume that literacy education should necessarily be the same for hearing and deaf children. The results also show that the most successful deaf readers focus on semantic information while reading, which suggests aspects of education that may promote improved literacy in the deaf population. Copyright © 2017 Elsevier Ltd. All rights reserved.

The DUF1669 domain of FAM83 family proteins anchor casein kinase 1 isoforms.

PubMed

Fulcher, Luke J; Bozatzi, Polyxeni; Tachie-Menson, Theresa; Wu, Kevin Z L; Cummins, Timothy D; Bufton, Joshua C; Pinkas, Daniel M; Dunbar, Karen; Shrestha, Sabin; Wood, Nicola T; Weidlich, Simone; Macartney, Thomas J; Varghese, Joby; Gourlay, Robert; Campbell, David G; Dingwell, Kevin S; Smith, James C; Bullock, Alex N; Sapkota, Gopal P

2018-05-22

Members of the casein kinase 1 (CK1) family of serine-threonine protein kinases are implicated in the regulation of many cellular processes, including the cell cycle, circadian rhythms, and Wnt and Hedgehog signaling. Because these kinases exhibit constitutive activity in biochemical assays, it is likely that their activity in cells is controlled by subcellular localization, interactions with inhibitory proteins, targeted degradation, or combinations of these mechanisms. We identified members of the FAM83 family of proteins as partners of CK1 in cells. All eight members of the FAM83 family (FAM83A to FAM83H) interacted with the α and α-like isoforms of CK1; FAM83A, FAM83B, FAM83E, and FAM83H also interacted with the δ and ε isoforms of CK1. We detected no interaction between any FAM83 member and the related CK1γ1, CK1γ2, and CK1γ3 isoforms. Each FAM83 protein exhibited a distinct pattern of subcellular distribution and colocalized with the CK1 isoform(s) to which it bound. The interaction of FAM83 proteins with CK1 isoforms was mediated by the conserved domain of unknown function 1669 (DUF1669) that characterizes the FAM83 family. Mutations in FAM83 proteins that prevented them from binding to CK1 interfered with the proper subcellular localization and cellular functions of both the FAM83 proteins and their CK1 binding partners. On the basis of its function, we propose that DUF1669 be renamed the polypeptide anchor of CK1 domain. Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

Effectiveness of videos improving cancer prevention knowledge in people with profound hearing loss.

PubMed

Zazove, Philip; Meador, Helen E; Reed, Barbara D; Sen, Ananda; Gorenflo, Daniel W

2012-06-01

Deaf persons have a poorer understanding of cancer prevention, which is felt to be partly due to communication barriers. One hundred ninety-seven d/Deaf persons completed a survey and video on cancer prevention. Half viewed a spoken English program designed for hearing persons (control group); the other half viewed an amended program that had American Sign Language, captions, and printed English options added (experimental group). Knowledge was measured before and after the video, including 1 and 6 months later. Respondents were primarily Caucasian, had low incomes, lost hearing at young ages, and had d/Deaf spouses. Although overall knowledge improved after viewing the video, the presence of culture-specific communications (American Sign Language, captions) did not improve scores compared to the control group, either immediately after the intervention or over time. Moreover, percentage correct on all pretest, and almost all post-test, questions was <50% for both experimental and control groups. For all subjects, regardless of which group they were in, a hearing spouse (p  < 0.001) and more healthcare information sources (p = 0.001) improved knowledge, while African-Americans showed a trend to lesser improvement (p = 0.06). Using culture-specific language did not improve cancer prevention knowledge in this d/Deaf population, and overall knowledge remained low. More study is needed to determine the best way to increase cancer prevention knowledge in this population.

Serving the Deaf-Blind Population: Planning for 1980.

ERIC Educational Resources Information Center

Brewer, Garry D.; Kakalik, James S.

Discussed in the report on planning for services to deaf-blind persons are the impact of the 1963-65 rubella epidemic on service delivery, the need for service system information and control, prevention of rubella as a cost-effective alternative to after care, estimates of the size of the 1980 deaf-blind population, and the projected (1980)cost of…

The Contribution of Verbal Working Memory to Deaf Children's Oral and Written Production

ERIC Educational Resources Information Center

Arfé, Barbara; Rossi, Cristina; Sicoli, Silvia

2015-01-01

This study investigated the contribution of verbal working memory to the oral and written story production of deaf children. Participants were 29 severely to profoundly deaf children aged 8-13 years and 29 hearing controls, matched for grade level. The children narrated a picture story orally and in writing and performed a reading comprehension…

DEBLICOM: Deaf-Blind Communication & Control Systems: First Quarterly Progress Report.

ERIC Educational Resources Information Center

Kafafian, Haig

Reported on is the first phase of development of DEBLICOM, a code for a two-way communication system for deaf-blind individuals who may be speech-impaired. Brief sections cover the following topics: alternatives to and considerations for the development of cutaneous codes for deaf-blind people; the DEBLICOM system which provides a means of…

Development and Testing of an Antitobacco School-Based Curriculum for Deaf and Hard of Hearing Youth

ERIC Educational Resources Information Center

Berman, Barbara A.; Guthmann, Debra S.; Crespi, Catherine M.; Liu, Weiqing

2011-01-01

A tobacco use prevention curriculum tailored for deaf/hard of hearing youth was tested using a quasi-experimental design. Two schools for the deaf received the curriculum; two served as noncurriculum controls. Surveys assessed changes in tobacco use, tobacco education exposure, and tobacco-related attitudes and knowledge among students in grades…

A Progress Report on a Thinking Laboratory for Deaf Children.

ERIC Educational Resources Information Center

Wolff, Sydney

A study was undertaken at the West Virginia School for the Deaf to test the assumption that the modes of thought of deaf children could be improved, and that improvement in concept formation would result in improvement in testable areas. Sixteen primary school children of approximately equal ability were selected and paired to form the control and…

Each Individual Isoform of the Dopamine D2 Receptor Protects from Lactotroph Hyperplasia

PubMed Central

Radl, Daniela; De Mei, Claudia; Chen, Eric; Lee, Hyuna

2013-01-01

Dopamine acting through D2 receptors (D2Rs) controls lactotroph proliferation and prolactin (PRL) levels. Ablation of this receptor in mice results in lactotroph hyperplasia and prolactinomas in aged females. Alternative splicing of the Drd2 gene generates 2 independent isoforms, a long (D2L) and a short (D2S) isoform, which are present in all D2R-expressing cells. Here, we addressed the role of D2L and D2S on lactotroph physiology through the generation and analysis of D2S-null mice and their comparison with D2L-null animals. These mice represent a valuable tool with which to investigate dopamine-dependent isoform-specific signaling in the pituitary gland. We sought to assess the existence of a more prominent role of D2L or D2S in controlling PRL expression and lactotroph hyperplasia. Importantly, we found that D2L and D2S are specifically linked to independent transduction pathways in the pituitary. D2L-mediated signaling inhibits the AKT/protein kinase B kinase activity whereas D2S, in contrast, is required for the activation of the ERK 1/2 pathway. Under normal conditions, presence of only 1 of the 2 D2R isoforms in vivo prevents hyperprolactinemia, formation of lactotroph's hyperplasia, and tumorigenesis that is observed when both isoforms are deleted as in D2R−/− mice. However, the protective function of the single D2R isoforms is overridden when single isoform-knockout mice are challenged by chronic estrogen treatments as they show increased PRL production and lactotroph hyperplasia. Our study indicates that signaling from each of the D2R isoforms is sufficient to maintain lactotroph homeostasis in physiologic conditions; however, signaling from both is necessary in conditions simulating pathologic states. PMID:23608643

Each individual isoform of the dopamine D2 receptor protects from lactotroph hyperplasia.

PubMed

Radl, Daniela; De Mei, Claudia; Chen, Eric; Lee, Hyuna; Borrelli, Emiliana

2013-06-01

Dopamine acting through D2 receptors (D2Rs) controls lactotroph proliferation and prolactin (PRL) levels. Ablation of this receptor in mice results in lactotroph hyperplasia and prolactinomas in aged females. Alternative splicing of the Drd2 gene generates 2 independent isoforms, a long (D2L) and a short (D2S) isoform, which are present in all D2R-expressing cells. Here, we addressed the role of D2L and D2S on lactotroph physiology through the generation and analysis of D2S-null mice and their comparison with D2L-null animals. These mice represent a valuable tool with which to investigate dopamine-dependent isoform-specific signaling in the pituitary gland. We sought to assess the existence of a more prominent role of D2L or D2S in controlling PRL expression and lactotroph hyperplasia. Importantly, we found that D2L and D2S are specifically linked to independent transduction pathways in the pituitary. D2L-mediated signaling inhibits the AKT/protein kinase B kinase activity whereas D2S, in contrast, is required for the activation of the ERK 1/2 pathway. Under normal conditions, presence of only 1 of the 2 D2R isoforms in vivo prevents hyperprolactinemia, formation of lactotroph's hyperplasia, and tumorigenesis that is observed when both isoforms are deleted as in D2R-/- mice. However, the protective function of the single D2R isoforms is overridden when single isoform-knockout mice are challenged by chronic estrogen treatments as they show increased PRL production and lactotroph hyperplasia. Our study indicates that signaling from each of the D2R isoforms is sufficient to maintain lactotroph homeostasis in physiologic conditions; however, signaling from both is necessary in conditions simulating pathologic states.

Introduction to Deaf-Blindness Workshop.

ERIC Educational Resources Information Center

Rhodes, Larry

This document presents the agenda and materials distributed at a 1-day introductory workshop on deaf-blindness. Introductory material explains the workshop's purpose and rules. A short test contrasts facts and myths about deaf-blindness. A handout presents information on the dynamics of deaf-blindness, etiologies in the adult deaf-blind…

Social Maturity and Executive Function among Deaf Learners

ERIC Educational Resources Information Center

Marschark, Marc; Kronenberger, William G.; Rosica, Mark; Borgna, Georgianna; Convertino, Carol; Durkin, Andreana; Machmer, Elizabeth; Schmitz, Kathryn L.

2017-01-01

Two experiments examined relations among social maturity, executive function, language, and cochlear implant (CI) use among deaf high school and college students. Experiment 1 revealed no differences between deaf CI users, deaf nonusers, and hearing college students in measures of social maturity. However, deaf students (both CI users and…

Low empathy in deaf and hard of hearing (pre)adolescents compared to normal hearing controls.

PubMed

Netten, Anouk P; Rieffe, Carolien; Theunissen, Stephanie C P M; Soede, Wim; Dirks, Evelien; Briaire, Jeroen J; Frijns, Johan H M

2015-01-01

The purpose of this study was to examine the level of empathy in deaf and hard of hearing (pre)adolescents compared to normal hearing controls and to define the influence of language and various hearing loss characteristics on the development of empathy. The study group (mean age 11.9 years) consisted of 122 deaf and hard of hearing children (52 children with cochlear implants and 70 children with conventional hearing aids) and 162 normal hearing children. The two groups were compared using self-reports, a parent-report and observation tasks to rate the children's level of empathy, their attendance to others' emotions, emotion recognition, and supportive behavior. Deaf and hard of hearing children reported lower levels of cognitive empathy and prosocial motivation than normal hearing children, regardless of their type of hearing device. The level of emotion recognition was equal in both groups. During observations, deaf and hard of hearing children showed more attention to the emotion evoking events but less supportive behavior compared to their normal hearing peers. Deaf and hard of hearing children attending mainstream education or using oral language show higher levels of cognitive empathy and prosocial motivation than deaf and hard of hearing children who use sign (supported) language or attend special education. However, they are still outperformed by normal hearing children. Deaf and hard of hearing children, especially those in special education, show lower levels of empathy than normal hearing children, which can have consequences for initiating and maintaining relationships.

STATEMENT OF VIEWS RELATING TO THE EDUCATION OF THE DEAF IN THE UNITED STATES--1964.

ERIC Educational Resources Information Center

FELLENDORF, GEORGE W.

REPRESENTATIVE OF THE VIEWS OF THE ALEXANDER GRAHAM BELL ASSOCIATION FOR THE DEAF, THIS STATEMENT SETS FORTH THE PURPOSES OF THE BELL ASSOCIATION AND DISCUSSES THE FOLLOWING TOPICS ABOUT DEAF EDUCATION--(1) THEIR AMBITIONS FOR ALL DEAF CHILDREN, (2) A CRITIQUE ON THE EDUCATION OF THE DEAF IN THE UNITED STATES, (3) CONCERN FOR DEAF CHILDREN WHO ARE…

Itinerant Deaf Educator and General Educator Perceptions of the D/HH Push-in Model

ERIC Educational Resources Information Center

Rabinsky, Rebecca J.

2013-01-01

A qualitative case study using the deaf and hard of hearing (D/HH) push-in model was conducted on the perceptions of 3 itinerant deaf educators and 3 general educators working in 1 school district. Participants worked in pairs of 1 deaf educator and 1 general educator at 3 elementary schools. Open-ended research questions guided the study, which…

The impact of cervical cancer education for deaf women using a video educational tool employing American sign language, open captioning, and graphics.

PubMed

Choe, Sun; Lim, Rod Seung-Hwan; Clark, Karen; Wang, Regina; Branz, Patricia; Sadler, Georgia Robins

2009-01-01

Deaf women encounter barriers to accessing cancer information. In this study, we evaluated whether deaf women's knowledge could be increased by viewing a graphically enriched, American Sign Language (ASL) cervical cancer education video. A blind, randomized trial evaluated knowledge gain and retention. Deaf women (n = 130) completed questionnaires before, after, and 2 months after viewing the video. With only a single viewing of the in-depth video, the experimental group gained and retained significantly more cancer knowledge than the control group. Giving deaf women access to the ASL cervical cancer education video (http://cancer.ucsd.edu/deafinfo) significantly increased their knowledge of cervical cancer.

[Changes in titin and myosin heavy chain isoform composition in skeletal muscles of Mongolian gerbil (Meriones unguiculatus) after 12-day spaceflight].

PubMed

Okuneva, A D; Vikhliantsev, I M; Shpagina, M D; Rogachevskiĭ, V V; Khutsian, S S; Poddubnaia, Z A; Grigor'ev, A I

2012-01-01

Changes of titin and myosin heavy chain isoform composition in skeletal muscles (m. soleus, m. gastrocnemius, m. tibialis anterior, m. psoas major) in Mongolian Gerbil (Meriones unguiculatus ) were investigated after 12-day spaceflight on board of Russian space vehicle "Foton-M3". In m. psoas and m. soleus in the gerbils from "Flight" group the expected increase in the content of fast myosin heavy chain isoforms (IIxd and IIa, respectively) were observed. No significant differences were found in the content of IIxd and IIa isoforms of myosin heavy chain in m. tibialis anterior in the gerbils from control group as compared to that in "Flight" group. An unexpected increase in the content of slow myosin heavy chain I isoform and a decrease in the content of fast IIx/d isoform in m. gastrocnemius of the gerbils from "Flight" group were observed. In skeletal muscles of the gerbils from "Flight" group the relative content of titin N2A-isoform was reduced (by 1,2-1,7 times), although the content of its NT-isoform, which was revealed in striated muscles of mammals in our experiments earlier, remained the same. When the content of titin N2A-isoform was decreased, no predictable abnormalities in sarcomeric structure and contractile ability of skeletal muscles in the gerbils from "Flight" group were found. An assumption on the leading role of titin NT-isoform in maintenance of structural and functional properties of striated muscles of mammals was made.

Is Semantics Affected by Missing a Critical Period? Evidence from the Persian Deaf

ERIC Educational Resources Information Center

Choubsaz, Yassaman; Gheitury, Amer

2017-01-01

The present study aims to explore the semantic knowledge of a group of Iranian deaf individuals who, due mainly to auditory deprivation did not acquire language normally in early years of their life. The participants were ten deaf and a matched number of hearing individuals as control group. A test of five tasks was administrated to assess their…

Spatial and Facial Processing in the Signed Discourse of Two Groups of Deaf Signers with Clinical Language Impairment

ERIC Educational Resources Information Center

Penn, Claire; Commerford, Ann; Ogilvy, Dale

2007-01-01

The linguistic and cognitive profiles of five deaf adults with a sign language disorder were compared with those of matched deaf controls. The test involved a battery of sign language tests, a signed narrative discourse task and a neuropsychological test protocol administered in sign language. Spatial syntax and facial processing were examined in…

Nicaraguan Sign Language and Theory of Mind: The Issue of Critical Periods and Abilities

ERIC Educational Resources Information Center

Morgan, Gary; Kegl, Judy

2006-01-01

Background: Previous studies in the literature report that deaf individuals who experience late access to language perform poorly on false belief tests of Theory of Mind (ToM) compared with age-matched deaf and hearing controls exposed to language early. Methods: A group of 22 deaf Nicaraguans (aged 7 to 39 years) who learned Nicaraguan Sign…

The Effects of Captions on Deaf Students' Content Comprehension, Cognitive Load, and Motivation in Online Learning

ERIC Educational Resources Information Center

Yoon, Joong-O.; Kim, Minjeong

2011-01-01

The authors examined the effects of captions on deaf students' content comprehension, cognitive load, and motivation in online learning. The participants in the study were 62 deaf adult students who had limited reading comprehension skills and used sign language as a first language. Participants were randomly assigned to either the control group…

Audio-Tactile Integration in Congenitally and Late Deaf Cochlear Implant Users

PubMed Central

Nava, Elena; Bottari, Davide; Villwock, Agnes; Fengler, Ineke; Büchner, Andreas; Lenarz, Thomas; Röder, Brigitte

2014-01-01

Several studies conducted in mammals and humans have shown that multisensory processing may be impaired following congenital sensory loss and in particular if no experience is achieved within specific early developmental time windows known as sensitive periods. In this study we investigated whether basic multisensory abilities are impaired in hearing-restored individuals with deafness acquired at different stages of development. To this aim, we tested congenitally and late deaf cochlear implant (CI) recipients, age-matched with two groups of hearing controls, on an audio-tactile redundancy paradigm, in which reaction times to unimodal and crossmodal redundant signals were measured. Our results showed that both congenitally and late deaf CI recipients were able to integrate audio-tactile stimuli, suggesting that congenital and acquired deafness does not prevent the development and recovery of basic multisensory processing. However, we found that congenitally deaf CI recipients had a lower multisensory gain compared to their matched controls, which may be explained by their faster responses to tactile stimuli. We discuss this finding in the context of reorganisation of the sensory systems following sensory loss and the possibility that these changes cannot be “rewired” through auditory reafferentation. PMID:24918766

Audio-tactile integration in congenitally and late deaf cochlear implant users.

PubMed

Nava, Elena; Bottari, Davide; Villwock, Agnes; Fengler, Ineke; Büchner, Andreas; Lenarz, Thomas; Röder, Brigitte

2014-01-01

Several studies conducted in mammals and humans have shown that multisensory processing may be impaired following congenital sensory loss and in particular if no experience is achieved within specific early developmental time windows known as sensitive periods. In this study we investigated whether basic multisensory abilities are impaired in hearing-restored individuals with deafness acquired at different stages of development. To this aim, we tested congenitally and late deaf cochlear implant (CI) recipients, age-matched with two groups of hearing controls, on an audio-tactile redundancy paradigm, in which reaction times to unimodal and crossmodal redundant signals were measured. Our results showed that both congenitally and late deaf CI recipients were able to integrate audio-tactile stimuli, suggesting that congenital and acquired deafness does not prevent the development and recovery of basic multisensory processing. However, we found that congenitally deaf CI recipients had a lower multisensory gain compared to their matched controls, which may be explained by their faster responses to tactile stimuli. We discuss this finding in the context of reorganisation of the sensory systems following sensory loss and the possibility that these changes cannot be "rewired" through auditory reafferentation.

Teaching Self-Control to Dually Diagnosed Deaf Students: Promising Procedures.

ERIC Educational Resources Information Center

Morrow, Lonny W.

1985-01-01

Three pilot studies suggested that deaf multiply disabled students (ages 15-18) can learn and implement self-control strategies while becoming more independent and engaging in more age-appropriate prosocial behavior. Use of the skills was maintained and appeared to generalize to other school and nonschool environments. (CL)

From General Aberrant Alternative Splicing in Cancers and Its Therapeutic Application to the Discovery of an Oncogenic DMTF1 Isoform

PubMed Central

Tian, Na; Li, Jialiang; Shi, Jinming; Sui, Guangchao

2017-01-01

Alternative pre-mRNA splicing is a crucial process that allows the generation of diversified RNA and protein products from a multi-exon gene. In tumor cells, this mechanism can facilitate cancer development and progression through both creating oncogenic isoforms and reducing the expression of normal or controllable protein species. We recently demonstrated that an alternative cyclin D-binding myb-like transcription factor 1 (DMTF1) pre-mRNA splicing isoform, DMTF1β, is increasingly expressed in breast cancer and promotes mammary tumorigenesis in a transgenic mouse model. Aberrant pre-mRNA splicing is a typical event occurring for many cancer-related functional proteins. In this review, we introduce general aberrant pre-mRNA splicing in cancers and discuss its therapeutic application using our recent discovery of the oncogenic DMTF1 isoform as an example. We also summarize new insights in designing novel targeting strategies of cancer therapies based on the understanding of deregulated pre-mRNA splicing mechanisms. PMID:28257090

Self-Concept and Psychopathology in Deaf Adolescents: Preliminary Support for Moderating Effects of Deafness-Related Characteristics and Peer Problems

ERIC Educational Resources Information Center

van Gent, Tiejo; Goedhart, Arnold W.; Treffers, Philip D. A.

2011-01-01

Background: High rates of psychopathology were found amongst deaf adolescents, but little is known about the psychosocial risk factors. This study investigated whether (1) less severe deafness and/or acquired or otherwise complicated deafness, and (2) having mainly contacts with hearing people, each represent chronic stressful conditions that…

TIMP-1 resistant matrix metalloproteinase-9 is the predominant serum active isoform associated with MRI activity in patients with multiple sclerosis.

PubMed

Trentini, Alessandro; Manfrinato, Maria C; Castellazzi, Massimiliano; Tamborino, Carmine; Roversi, Gloria; Volta, Carlo A; Baldi, Eleonora; Tola, Maria R; Granieri, Enrico; Dallocchio, Franco; Bellini, Tiziana; Fainardi, Enrico

2015-08-01

The activity of matrix metalloproteinase-9 (MMP-9) depends on two isoforms, an 82 kDa active MMP-9 modulated by its specific tissue inhibitor (TIMP-1), and a 65 kDa TIMP-1 resistant active MMP-9. The relevance of these two enzymatic isoforms in multiple sclerosis (MS) is still unknown. To investigate the contribution of the TIMP-1 modulated and resistant active MMP-9 isoforms to MS pathogenesis. We measured the serum levels of the 82 kDa and TIMP-1 resistant active MMP-9 isoforms by activity assay systems in 86 relapsing-remitting MS (RRMS) patients, categorized according to clinical and magnetic resonance imaging (MRI) evidence of disease activity, and in 70 inflammatory (OIND) and 69 non-inflammatory (NIND) controls. Serum levels of TIMP-1 resistant MMP-9 were more elevated in MS patients than in OIND and NIND (p < 0.05, p < 0.02, respectively). Conversely, 82 kDa active MMP-9 was higher in NIND than in the OIND and MS patients (p < 0.01 and p < 0.00001, respectively). MRI-active patients had higher levels of TIMP-1 resistant MMP-9 and 82 kDa active MMP-9, than did those with MRI inactive MS (p < 0.01 and p < 0.05, respectively). Our findings suggested that the TIMP-1 resistant MMP-9 seem to be the predominantly active isoform contributing to MS disease activity. © The Author(s), 2015.

Low Empathy in Deaf and Hard of Hearing (Pre)Adolescents Compared to Normal Hearing Controls

PubMed Central

Netten, Anouk P.; Rieffe, Carolien; Theunissen, Stephanie C. P. M.; Soede, Wim; Dirks, Evelien; Briaire, Jeroen J.; Frijns, Johan H. M.

2015-01-01

Objective The purpose of this study was to examine the level of empathy in deaf and hard of hearing (pre)adolescents compared to normal hearing controls and to define the influence of language and various hearing loss characteristics on the development of empathy. Methods The study group (mean age 11.9 years) consisted of 122 deaf and hard of hearing children (52 children with cochlear implants and 70 children with conventional hearing aids) and 162 normal hearing children. The two groups were compared using self-reports, a parent-report and observation tasks to rate the children’s level of empathy, their attendance to others’ emotions, emotion recognition, and supportive behavior. Results Deaf and hard of hearing children reported lower levels of cognitive empathy and prosocial motivation than normal hearing children, regardless of their type of hearing device. The level of emotion recognition was equal in both groups. During observations, deaf and hard of hearing children showed more attention to the emotion evoking events but less supportive behavior compared to their normal hearing peers. Deaf and hard of hearing children attending mainstream education or using oral language show higher levels of cognitive empathy and prosocial motivation than deaf and hard of hearing children who use sign (supported) language or attend special education. However, they are still outperformed by normal hearing children. Conclusions Deaf and hard of hearing children, especially those in special education, show lower levels of empathy than normal hearing children, which can have consequences for initiating and maintaining relationships. PMID:25906365

Estimated number of loci for autosomal recessive severe nerve deafness within the Israeli Jewish population, with implications for genetic counseling.

PubMed

Brownstein, Z; Friedlander, Y; Peritz, E; Cohen, T

1991-12-01

Deafness occurs in about 1 per thousand live births, and at least 50% of congenital deafness is hereditary. The aim of this study was to examine the number of loci for recessively inherited severe nerve deafness of early onset within the Israeli population and to compare the results to those obtained in other populations. The Jewish population in Israel originates from many countries and may be divided into Sephardi, Eastern and Ashkenazi Jews, and the matings will be intraethnic or interethnic. Data were obtained on 133 deaf couples who lived in the Tel Aviv area, through the files of the Helen Keller Center. Causes of deafness in the spouses were studied and data on their children were obtained. Among 111 couples who had recessive or possibly recessive deafness and had at least 1 child, there were 12 with only deaf children and 5 with both deaf and hearing children. The number of loci for recessive deafness in the whole group was estimated at 8-9. Intraethnic and interethnic matings gave an estimate of 6.7 and 22.0 loci, respectively, which indicates that within populations fewer loci exist with recessive mutations for deafness than between populations. It could be shown that the sharing of loci between spouses decreased with increasing geographical distance of their origin. The results provide data for genetic counseling in Israel for deaf couples who have no children or have one hearing or one deaf child.

Amyloid precursor protein gene isoforms in Alzheimer's disease and other neurodegenerative disorders.

PubMed

Panegyres, P K; Zafiris-Toufexis, K; Kakulas, B A

2000-02-15

Differential expression of the amyloid precursor protein gene (APP) may be important in the development of amyloidosis in Alzheimer's disease (AD) and experimentally in the brain's response to injury. Controversial data suggests that APP isoforms containing the Kunitz protease inhibitor isoform (APP KPI+) are over expressed in the brains of patients with AD when compared to the non-Kunitz protease inhibitor containing isoforms (APP KPI-). We have investigated this hypothesis using a quantitative analysis of gene expression on brain tissue collected at post-mortem. In situ hybridization has been used with synthetic oligonucleotide probes labelled with 35S to detect the two principal splice variants of APP: APP 695 (KPI-) and APP 751 (KPI+). A prospective brain bank of frozen brain specimens has been established and includes pathologically proven AD (n=15) and other neurodegenerative disorders as controls (n=18). The controls consist of frontal lobe atrophy (n=4), Huntington's disease (n=5), Parkinson's disease (n=4), motor neuron disease (n=2), multi-infarct dementia (n=1), multisystem atrophy (n=1), and subacute sclerosing panencephalitis (n=1). We have observed no significant differences in the expression of APP 695 KPI- mRNA in frontal lobe: 17.49+/-3.26 optical density (OD) units of mRNA expression in AD vs. 16.13+/-1.76 OD units mRNA in controls (P=0.80, linear regression); or temporal lobe: 14.73+/-2.96 in AD vs. 16.49+/-2.15 in controls (P=0.55). No significant differences have been found in APP 751 KPI+ in frontal lobe: 12.86+/-2.98 in AD vs. 13.70+/-2.88 in controls (P=0.97); and temporal lobe: 13.31+/-4.93 in AD vs. 11.07+/-1.99 in controls (P=0. 65). Analysis of the ratios of APP 751 KPI+ OD units of mRNA to APP 695 KPI- mRNA revealed a trend to an increased ratio which did not reach statistical significance: frontal lobe APP 751 KPI+/APP 695 KPI- 1.92+/-1.04 in AD vs. 0.86+/-0.17 in controls (P=0.54); temporal lobe 2.54+/-1.59 in AD vs. 0.96+/-0.11 controls (P=0.34). Our data has not revealed differential expression of APP mRNA isoforms in AD and supports the hypothesis that post-translational events in APP metabolism are important in amyloidogenesis and the pathogenesis of AD.

The Impact of Cervical Cancer Education for Deaf Women Using a Video Educational Tool Employing American Sign Language, Open Captioning, and Graphics

PubMed Central

Choe, Sun; Lim, Rod Seung-Hwan; Clark, Karen; Wang, Regina; Branz, Patricia; Sadler, Georgia Robins

2013-01-01

Background Deaf women encounter barriers to accessing cancer information. In this study, we evaluated whether deaf women's knowledge could be increased by viewing a graphically enriched, American Sign Language (ASL) cervical cancer education video. Methods A blind, randomized trial evaluated knowledge gain and retention. Deaf women (n = 130) completed questionnaires before, after, and 2 months after viewing the video. Results With only a single viewing of the in-depth video, the experimental group gained and retained significantly more cancer knowledge than the control group. Conclusions Giving deaf women access to the ASL cervical cancer education video (http://cancer.ucsd.edu/deafinfo) significantly increased their knowledge of cervical cancer. PMID:19259859

Apartheid in Deaf Education: Examining Workforce Diversity

ERIC Educational Resources Information Center

Simms, Laurene; Rusher, Melissa; Andrews, Jean F.; Coryell, Judy

2008-01-01

A survey of 3,227 professionals in 313 deaf education programs found that 22.0% of teachers and 14.5% of administrators were deaf--a less than 10% increase in deaf professionals since 1993. Additionally, 21.7% of teachers and 6.1% of administrators were professionals of color. Of these minority teachers, only 2.5% were deaf persons of color. Only…

Emergency Department Use and Risk Factors among Deaf American Sign Language Users

PubMed Central

McKee, Michael M.; Winters, Paul C.; Sen, Ananda; Zazove, Philip; Fiscella, Kevin

2015-01-01

Background Deaf American Sign Language (ASL) users comprise a linguistic minority population with poor health care access due to communication barriers and low health literacy. Potentially, these health care barriers could increase Emergency Department (ED) use. Objective To compare ED use between deaf and non-deaf patients. Method A retrospective cohort from medical records. The sample was derived from 400 randomly selected charts (200 deaf ASL users and 200 hearing English speakers) from an outpatient primary care health center with a high volume of deaf patients. Abstracted data included patient demographics, insurance, health behavior, and ED use in the past 36 months. Results Deaf patients were more likely to be never smokers and be insured through Medicaid. In an adjusted analysis, deaf individuals were significantly more likely to use the ED (odds ratio [OR], 1.97; 95% confidence interval [CI], 1.11–3.51) over the prior 36 months. Conclusion Deaf American Sign Language users appear to be at greater odds for elevated ED utilization when compared to the general hearing population. Efforts to further understand the drivers for increased ED utilization among deaf ASL users are much needed. PMID:26166160

Emergency Department utilization among Deaf American Sign Language users.

PubMed

McKee, Michael M; Winters, Paul C; Sen, Ananda; Zazove, Philip; Fiscella, Kevin

2015-10-01

Deaf American Sign Language (ASL) users comprise a linguistic minority population with poor health care access due to communication barriers and low health literacy. Potentially, these health care barriers could increase Emergency Department (ED) use. To compare ED use between deaf and non-deaf patients. A retrospective cohort from medical records. The sample was derived from 400 randomly selected charts (200 deaf ASL users and 200 hearing English speakers) from an outpatient primary care health center with a high volume of deaf patients. Abstracted data included patient demographics, insurance, health behavior, and ED use in the past 36 months. Deaf patients were more likely to be never smokers and be insured through Medicaid. In an adjusted analysis, deaf individuals were significantly more likely to use the ED (odds ratio [OR], 1.97; 95% confidence interval [CI], 1.11-3.51) over the prior 36 months. Deaf American Sign Language users appear to be at greater odds for elevated ED utilization when compared to the general hearing population. Efforts to further understand the drivers for increased ED utilization among deaf ASL users are much needed. Copyright © 2015 Elsevier Inc. All rights reserved.

Aerobic Exercise Intervention Alters Executive Function and White Matter Integrity in Deaf Children: A Randomized Controlled Study

PubMed Central

Xiong, Xuan; Zhu, Li-Na; Dong, Xiao-xiao; Wang, Wei; Yan, Jun

2018-01-01

This study examined the effects of an 11-week aerobic exercise intervention on executive function (EF) and white matter integrity (WMI). In total, 28 deaf children (aged 9–13 years) were randomly assigned to either an 11-week exercise intervention or the control group. All the children had behavioral assessment and diffusion tensor imaging prior to and following the exercise intervention. The behavioral performance results demonstrated that EF was enhanced by exercise. Relative to the control group, WMI of the exercise intervention group showed (1) lower fractional anisotropy (FA) in the pontine crossing tract (PCT) and right cingulum (hippocampus) (CH), genu of the corpus callosum (gCC), right inferior cerebellar peduncle (ICP), left superior corona radiata (SCR), and left superior frontooccipital fasciculus (SFOF); (2) higher mean diffusivity (MD) in the gCC, right CH, right inferior frontooccipital fasciculus (IFOF), and left anterior limb of the internal capsule (ALIC); and (3) lower MD in the left ICP and left tapetum (TAP). Furthermore, the lower FA in gCC showed a significant negative correlation with improvement in behavioral performance, but the correlation was not significant after FDR correction. These results suggest that exercise can effectively improve deaf children's EF and reshape the WMI in deaf children. The improved EF by exercise is not related to a reshaping of WMI, but more studies on the relationship between EF and WMI by exercise may be needed. PMID:29853843

Attention Interchanges at Story-Time: A Case Study from a Deaf and Hearing Twin Pair Acquiring Swedish Sign Language in Their Deaf Family

ERIC Educational Resources Information Center

Cramer-Wolrath, Emelie

2012-01-01

This case study longitudinally analyzes and describes the changes of attentional expressions in interchanges between a pair of fraternal twins, 1 deaf and 1 hearing, from the age of 10-40 months, and their Deaf family members. The video-observed attentional expressions of initiating and reestablishing interchange were grouped in 5 functional…

VOCATIONAL STATUS AND ADJUSTMENT OF DEAF WOMEN. THE LEXINGTON SCHOOL FOR THE DEAF RESEARCH PUBLICATION SERIES NUMBER 1.

ERIC Educational Resources Information Center

LERMAN, ALAN; ROSENSTEIN, JOSEPH

THE OBJECTIVES OF THIS TWO YEAR STUDY WERE--(1) TABULATION OF VOCATIONAL STATUS, (2) DETERMINATION OF SCHOOL AND POST-SCHOOL FACTORS LEADING TO JOB SUCCESS OR FAILURE, AND (3) LOCATING PROBLEM AREAS IN TOTAL JOB PROCESS. POST-SCHOOL VOCATIONAL INFORMATION WAS OBTAINED FROM 177 DEAF WOMEN WHO HAD ATTENDED THE LEXINGTON SCHOOL FOR THE DEAF PRIOR TO…

34 CFR 396.1 - What is the Training of Interpreters for Individuals Who Are Deaf and Individuals Who Are Deaf...

Code of Federal Regulations, 2011 CFR

2011-07-01

... communication needs of individuals who are deaf and individuals who are deaf-blind by— (a) Training manual, tactile, oral, and cued speech interpreters; (b) Ensuring the maintenance of the skills of interpreters...

34 CFR 396.1 - What is the Training of Interpreters for Individuals Who Are Deaf and Individuals Who Are Deaf...

Code of Federal Regulations, 2012 CFR

2012-07-01

... meet the communication needs of individuals who are deaf and individuals who are deaf-blind by— (a) Training manual, tactile, oral, and cued speech interpreters; (b) Ensuring the maintenance of the skills of...

34 CFR 396.1 - What is the Training of Interpreters for Individuals Who Are Deaf and Individuals Who Are Deaf...

Code of Federal Regulations, 2013 CFR

2013-07-01

... meet the communication needs of individuals who are deaf and individuals who are deaf-blind by— (a) Training manual, tactile, oral, and cued speech interpreters; (b) Ensuring the maintenance of the skills of...

34 CFR 396.1 - What is the Training of Interpreters for Individuals Who Are Deaf and Individuals Who Are Deaf...

Code of Federal Regulations, 2014 CFR

2014-07-01

... communication needs of individuals who are deaf and individuals who are deaf-blind by— (a) Training manual, tactile, oral, and cued speech interpreters; (b) Ensuring the maintenance of the skills of interpreters...

What Are the Earth and the Heavenly Bodies Like? A Study of Objectual Conceptions among Norwegian Deaf and Hearing Pupils.

ERIC Educational Resources Information Center

Roald, Ingvild; Mikalsen, Oyvind

2000-01-01

Addresses deaf pupils' conceptions of directly-observed phenomena of the earth and sky. Studies 7-, 9-, 11-, and 17-year-old deaf pupils and uses 9-year-old Norwegian pupils with normal hearing as the control group. Reports that the children's conceptions are scientifically accepted. Indicates that the shape of the sign representing an object may…

Family influences on the cognitive development of profoundly deaf children: exploring the effects of socioeconomic status and siblings.

PubMed

Macaulay, Catrin E; Ford, Ruth M

2013-10-01

We evaluated the cognitive development of 48 profoundly deaf children from hearing families (born 1994-2002, mean age M = 8.0 years at time of test, none of whom had received early auditory-verbal therapy) as a function of family socioeconomic status and number of siblings. Overall, the deaf children matched a younger group of 47 hearing controls (M = 4.6 years) on verbal ability, theory of mind, and cognitive inhibition. Partial correlations (controlling for age) revealed positive relations in the hearing group between maternal education and inhibition, between number of younger siblings and references to emotions, and between number of close-in-age siblings and references to desires and false beliefs. In the deaf group, there were positive relations between household income and memory span, between maternal education and references to false beliefs, and between number of younger siblings and nonverbal ability. In contrast, deaf children with a greater number of older siblings aged ≤12 years showed inferior memory span, inhibition, belief understanding, picture-sequencing accuracy, and mental-state language, suggesting that they failed to compete successfully with older siblings for their parents' attention and material resources. We consider the implications of the findings for understanding birth-order effects on deaf and language-impaired children.

Sexual health behaviors of Deaf American Sign Language (ASL) users.

PubMed

Heiman, Erica; Haynes, Sharon; McKee, Michael

2015-10-01

Little is known about the sexual health behaviors of Deaf American Sign Language (ASL) users. We sought to characterize the self-reported sexual behaviors of Deaf individuals. Responses from 282 Deaf participants aged 18-64 from the greater Rochester, NY area who participated in the 2008 Deaf Health were analyzed. These data were compared with weighted data from a general population comparison group (N = 1890). We looked at four sexual health-related outcomes: abstinence within the past year; number of sexual partners within the last year; condom use at last intercourse; and ever tested for HIV. We performed descriptive analyses, including stratification by gender, age, income, marital status, and educational level. Deaf respondents were more likely than the general population respondents to self-report two or more sexual partners in the past year (30.9% vs 10.1%) but self-reported higher condom use at last intercourse (28.0% vs 19.8%). HIV testing rates were similar between groups (47.5% vs 49.4%) but lower for certain Deaf groups: Deaf women (46.0% vs 58.1%), lower-income Deaf (44.4% vs 69.7%) and among less educated Deaf (31.3% vs 57.7%) than among respondents from corresponding general population groups. Deaf respondents self-reported higher numbers of sexual partners over the past year compared to the general population. Condom use was higher among Deaf participants. HIV was similar between groups, though HIV testing was significantly lower among lower income, less well-educated, and female Deaf respondents. Deaf individuals have a sexual health risk profile that is distinct from that of the general population. Copyright © 2015 Elsevier Inc. All rights reserved.

Sexual Health Behaviors of Deaf American Sign Language (ASL) Users

PubMed Central

Heiman, Erica; Haynes, Sharon; McKee, Michael

2015-01-01

Background Little is known about the sexual health behaviors of Deaf American Sign Language (ASL) users. Objective We sought to characterize the self-reported sexual behaviors of Deaf individuals. Methods Responses from 282 Deaf participants aged 18–64 from the greater Rochester, NY area who participated in the 2008 Deaf Health were analyzed. These data were compared with weighted data from a general population comparison group (N=1890). We looked at four sexual health-related outcomes: abstinence within the past year; number of sexual partners within the last year; condom use at last intercourse; and ever tested for HIV. We performed descriptive analyses, including stratification by gender, age, income, marital status, and educational level. Results Deaf respondents were more likely than the general population respondents to self-report two or more sexual partners in the past year (30.9% vs 10.1%) but self-reported higher condom use at last intercourse (28.0% vs 19.8%). HIV testing rates were similar between groups (47.5% vs 49.4%) but lower for certain Deaf groups: Deaf women (46.0% vs. 58.1%), lower-income Deaf (44.4% vs. 69.7%) and among less educated Deaf (31.3% vs. 57.7%) than among respondents from corresponding general population groups. Conclusion Deaf respondents self-reported higher numbers of sexual partners over the past year compared to the general population. Condom use was higher among Deaf participants. HIV was similar between groups, though HIV testing was significantly lower among lower-income, less well-educated, and female Deaf respondents. Deaf individuals have a sexual health risk profile that is distinct from that of the general population. PMID:26242551

A human Polycomb isoform lacking the Pc box does not participate to PRC1 complexes but forms protein assemblies and represses transcription.

PubMed

Völkel, Pamela; Le Faou, Perrine; Vandamme, Julien; Pira, Dorcas; Angrand, Pierre-Olivier

2012-05-01

Polycomb repression controls the expression of hundreds of genes involved in development and is mediated by essentially two classes of chromatin-associated protein complexes. The Polycomb repressive complex 2 (PRC2) trimethylates histone H3 at lysine 27, an epigenetic mark that serves as a docking site for the PRC1 protein complex. Drosophila core PRC1 is composed of four subunits: Polycomb (Pc), Posterior sex combs (Psc), Polyhomeotic (Ph) and Sex combs extra (Sce). Each of these proteins has multiple orthologs in vertebrates, thus generating an enormous scope for potential combinatorial diversity. In particular, mammalian genomes encode five Pc family members: CBX2, CBX4, CBX6, CBX7 and CBX8. To complicate matters further, distinct isoforms might arise from single genes. Here, we address the functional role of the two human CBX2 isoforms. Owing to different polyadenylation sites and alternative splicing events, the human CBX2 locus produces two transcripts: a 5-exon transcript that encodes the 532-amino acid CBX2-1 isoform that contains the conserved chromodomain and Pc box and a 4-exon transcript encoding a shorter isoform, CBX2-2, lacking the Pc box but still possessing a chromodomain. Using biochemical approaches and a novel in vivo imaging assay, we show that the short CBX2-2 isoform lacking the Pc box, does not participate in PRC1 protein complexes, but self-associates in vivo and forms complexes of high molecular weight. Furthermore, the CBX2 short isoform is still able to repress transcription, suggesting that Polycomb repression might occur in the absence of PRC1 formation.

Sorting of tropomyosin isoforms in synchronised NIH 3T3 fibroblasts: evidence for distinct microfilament populations.

PubMed

Percival, J M; Thomas, G; Cock, T A; Gardiner, E M; Jeffrey, P L; Lin, J J; Weinberger, R P; Gunning, P

2000-11-01

The nonmuscle actin cytoskeleton consists of multiple networks of actin microfilaments. Many of these filament systems are bound by the actin-binding protein tropomyosin (Tm). We investigated whether Tm isoforms could be cell cycle regulated during G0 and G1 phases of the cell cycle in synchronised NIH 3T3 fibroblasts. Using Tm isoform-specific antibodies, we investigated protein expression levels of specific Tms in G0 and G1 phases and whether co-expressed isoforms could be sorted into different compartments. Protein levels of Tms 1, 2, 5a, 6, from the alpha Tm(fast) and beta-Tm genes increased approximately 2-fold during mid-late G1. Tm 3 levels did not change appreciably during G1 progression. In contrast, Tm 5NM gene isoform levels (Tm 5NM-1-11) increased 2-fold at 5 h into G1 and this increase was maintained for the following 3 h. However, Tm 5NM-1 and -2 levels decreased by a factor of three during this time. Comparison of the staining of the antibodies CG3 (detects all Tm 5NM gene products), WS5/9d (detects only two Tms from the Tm 5NM gene, Tm 5NM-1 and -2) and alpha(f)9d (detects specific Tms from the alpha Tm(fast) and beta-Tm genes) antibodies revealed 3 spatially distinct microfilament systems. Tm isoforms detected by alpha(f)9d were dramatically sorted from isoforms from the Tm 5NM gene detected by CG3. Tm 5NM-1 and Tm 5NM-2 were not incorporated into stress fibres, unlike other Tm 5NM isoforms, and marked a discrete, punctate, and highly polarised compartment in NIH 3T3 fibroblasts. All microfilament systems, excluding that detected by the WS5/9d antibody, were observed to coalign into parallel stress fibres at 8 h into G1. However, Tms detected by the CG3 and alpha(f)9d antibodies were incorporated into filaments at different times indicating distinct temporal control mechanisms. Microfilaments in NIH 3T3 cells containing Tm 5NM isoforms were more resistant to cytochalasin D-mediated actin depolymerisation than filaments containing isoforms from the alpha Tm(fast) and beta-Tm genes. This suggests that Tm 5NM isoforms may be in different microfilaments to alpha Tm(fast) and beta-Tm isoforms even when present in the same stress fibre. Staining of primary mouse fibroblasts showed identical Tm sorting patterns to those seen in cultured NIH 3T3 cells. Furthermore, we demonstrate that sorting of Tms is not restricted to cultured cells and can be observed in human columnar epithelial cells in vivo. We conclude that the expression and localisation of Tm isoforms are differentially regulated in G0 and G1 phase of the cell cycle. Tms mark multiple microfilament compartments with restricted tropomyosin composition. The creation of distinct microfilament compartments by differential sorting of Tm isoforms is observable in primary fibroblasts, cultured 3T3 cells and epithelial cells in vivo. Copyright 2000 Wiley-Liss, Inc.

The Drosophila indirect flight muscle myosin heavy chain isoform is insufficient to transform the jump muscle into a highly stretch-activated muscle type

PubMed Central

Zhao, Cuiping

2017-01-01

Stretch activation (SA) is a delayed increase in force that enables high power and efficiency from a cyclically contracting muscle. SA exists in various degrees in almost all muscle types. In Drosophila, the indirect flight muscle (IFM) displays exceptionally high SA force production (FSA), whereas the jump muscle produces only minimal FSA. We previously found that expressing an embryonic (EMB) myosin heavy chain (MHC) isoform in the jump muscle transforms it into a moderately SA muscle type and enables positive cyclical power generation. To investigate whether variation in MHC isoforms is sufficient to produce even higher FSA, we substituted the IFM MHC isoform (IFI) into the jump muscle. Surprisingly, we found that IFI only caused a 1.7-fold increase in FSA, less than half the increase previously observed with EMB, and only at a high Pi concentration, 16 mM. This IFI-induced FSA is much less than what occurs in IFM, relative to isometric tension, and did not enable positive cyclical power generation by the jump muscle. Both isometric tension and FSA of control fibers decreased with increasing Pi concentration. However, for IFI-expressing fibers, only isometric tension decreased. The rate of FSA generation was ~1.5-fold faster for IFI fibers than control fibers, and both rates were Pi dependent. We conclude that MHC isoforms can alter FSA and hence cyclical power generation but that isoforms can only endow a muscle type with moderate FSA. Highly SA muscle types, such as IFM, likely use a different or additional mechanism. PMID:27881413

Phonological awareness and short-term memory in hearing and deaf individuals of different communication backgrounds.

PubMed

Koo, Daniel; Crain, Kelly; LaSasso, Carol; Eden, Guinevere F

2008-12-01

Previous work in deaf populations on phonological coding and working memory, two skills thought to play an important role in the acquisition of written language skills, have focused primarily on signers or did not clearly identify the subjects' native language and communication mode. In the present study, we examined the effect of sensory experience, early language experience, and communication mode on the phonological awareness skills and serial recall of linguistic items in deaf and hearing individuals of different communicative and linguistic backgrounds: hearing nonsigning controls, hearing users of ASL, deaf users of ASL, deaf oral users of English, and deaf users of cued speech. Since many current measures of phonological awareness skills are inappropriate for deaf populations on account of the verbal demands in the stimuli or response, we devised a nonverbal phonological measure that addresses this limitation. The Phoneme Detection Test revealed that deaf cuers and oral users, but not deaf signers, performed as well as their hearing peers when detecting phonemes not transparent in the orthography. The second focus of the study examined short-term memory skills and found that in response to the traditional digit span as well as an experimental visual version, digit-span performance was similar across the three deaf groups, yet deaf subjects' retrieval was lower than that of hearing subjects. Our results support the claim (Bavelier et al., 2006) that lexical items processed in the visual-spatial modality are not as well retained as information processed in the auditory channel. Together these findings show that the relationship between working memory, phonological coding, and reading may not be as tightly interwoven in deaf students as would have been predicted from work conducted in hearing students.

DEBLICOM: Deaf-Blind Communication and Control Systems. Interim Progress Report, August 1974-August 1975.

ERIC Educational Resources Information Center

Kafafian, Haig

Presented is a report on the work of Cybernetics Research Institute (CRI) investigators on the development of deaf-blind communication and control systems (DEBLICOM). Described in Part One is one embodiment of DEBLICOM designed and built by CRI engineers. Reported in Part Two are experimental procedures and human factors considerations of…

Ethylene Receptor 1 (ETR1) Is Sufficient and Has the Predominant Role in Mediating Inhibition of Ethylene Responses by Silver in Arabidopsis thaliana*

PubMed Central

McDaniel, Brittany K.; Binder, Brad M.

2012-01-01

Ethylene influences many processes in Arabidopsis thaliana through the action of five receptor isoforms. All five isoforms use copper as a cofactor for binding ethylene. Previous research showed that silver can substitute for copper as a cofactor for ethylene binding activity in the ETR1 ethylene receptor yet also inhibit ethylene responses in plants. End-point and rapid kinetic analyses of dark-grown seedling growth revealed that the effects of silver are mostly dependent upon ETR1, and ETR1 alone is sufficient for the effects of silver. Ethylene responses in etr1-6 etr2-3 ein4-4 triple mutants were not blocked by silver. Transformation of these triple mutants with cDNA for each receptor isoform under the promoter control of ETR1 revealed that the cETR1 transgene completely rescued responses to silver while the cETR2 transgene failed to rescue these responses. The other three isoforms partially rescued responses to silver. Ethylene binding assays on the binding domains of the five receptor isoforms expressed in yeast showed that silver supports ethylene binding to ETR1 and ERS1 but not the other isoforms. Thus, silver may have an effect on ethylene signaling outside of the ethylene binding pocket of the receptors. Ethylene binding to ETR1 with silver was ∼30% of binding with copper. However, alterations in the Kd for ethylene binding to ETR1 and the half-time of ethylene dissociation from ETR1 do not underlie this lower binding. Thus, it is likely that the lower ethylene binding activity of ETR1 with silver is due to fewer ethylene binding sites generated with silver versus copper. PMID:22692214

Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes a vertebrate specific, nuclear localized protein phosphatase one alpha (PP1α) docking protein

PubMed Central

Ferrar, Tony; Chamousset, Delphine; De Wever, Veerle; Nimick, Mhairi; Andersen, Jens; Trinkle-Mulcahy, Laura; Moorhead, Greg B. G.

2012-01-01

Summary The promiscuous activity of protein phosphatase one (PP1) is controlled in the cell by associated proteins termed regulatory or targeting subunits. Using biochemical and proteomic approaches we demonstrate that the autosomal recessive nonsyndromic hearing loss gene, taperin (C9orf75), encodes a protein that preferentially docks the alpha isoform of PP1. Taperin associates with PP1 through a classic ‘RVxF’ motif and suppresses the general phosphatase activity of the enzyme. The steady-state localization of taperin is predominantly nuclear, however we demonstrate here that the protein can shuttle between the nucleus and cytoplasm and that it is found complexed to PP1 in both of these cellular compartments. Although originally identified as a hearing loss gene, Western blot analyses with taperin-specific antibodies revealed that the protein is widely expressed across mammalian tissues as multiple splice variants. Taperin is a recent proteome addition appearing during the vertebrate lineage with the PP1 binding site embedded within the most conserved region of the protein. Taperin also shares an ancestral relationship with the cytosolic actin binding protein phostensin, another PP1 interacting partner. Quantitative Stable Isotope Labeling by Amino acids in Culture (SILAC)-based mass spectrometry was employed to uncover additional taperin binding partners, and revealed an interaction with the DNA damage response proteins Ku70, Ku80, PARP and topoisomerases I and IIα. Consistent with this, we demonstrate the active recruitment of taperin to sites of DNA damage. This makes taperin a new addition to the family of PP1 targeting subunits involved in the DNA damage repair pathway. PMID:23213405

Deaf-Blind Perspectives, 1998-1999.

ERIC Educational Resources Information Center

Malloy, Peggy, Ed.

1998-01-01

This collection of three issues focuses on competencies for teachers of learners who are deaf-blind, living with deaf-blindness, and resources in Australia for parents and families of students who are deaf-blind. Articles include: (1) "Research-to-Practice Focus: Competencies for Teachers of Learners Who Are Deafblind" (Marianne Riggio),…

Pro- and Anti-Mitogenic Actions of PACAP in Developing Cerebral Cortex: Potential Mediation by Developmental Switch of PAC1 Receptor mRNA Isoforms

PubMed Central

Yan, Yan; Zhou, Xiaofeng; Pan, Zui; Ma, Jianjie; Waschek, James; DiCicco-Bloom, Emanuel

2013-01-01

During corticogenesis, pituitary adenylate cyclase-activating polypeptide (PACAP; ADCYAP1) may contribute to proliferation control by activating PAC1 receptors of neural precursors in the embryonic ventricular zone. PAC1 receptors, specifically the hop and short isoforms, couple differentially to and activate distinct pathways that produce pro- or anti-mitogenic actions. Previously we found that PACAP was an anti-mitogenic signal from embryonic day 13.5 (E13.5) onwards both in culture and in vivo, and activated cAMP signaling through the short isoform. However, we now find that mice deficient in PACAP exhibited a decrease in the BrdU labeling index in E9.5 cortex, suggesting PACAP normally promotes proliferation at this stage. To further define mechanisms, we established a novel culture model in which the viability of very early cortical precursors (E9.5 mouse and E10.5 rat) could be maintained. At this stage, we found that PACAP evoked intracellular calcium fluxes and increased phospho-PKC levels, as well as stimulated G1 cyclin mRNAs and proteins, S-phase entry and proliferation without affecting cell survival. Significantly, expression of hop receptor isoform was 24-fold greater than the short isoform at E10.5, a ratio that was reversed at E14.5 when short expression was 15-fold greater and PACAP inhibited mitogenesis. Enhanced hop isoform expression, elicited by in vitro treatment of E10.5 precursors with retinoic acid, correlated with sustained pro-mitogenic action of PACAP beyond the developmental switch. Conversely, depletion of hop receptor using shRNA abolished PACAP mitogenic stimulation at E10.5. These observations suggest PACAP elicits temporally specific effects on cortical proliferation via developmentally-regulated expression of specific receptor isoforms. PMID:23447598

Cervical cancer control: deaf and hearing women's response to an educational video.

PubMed

Yao, Catherine S; Merz, Erin L; Nakaji, Melanie; Harry, Kadie M; Malcarne, Vanessa L; Sadler, Georgia Robins

2012-03-01

Deaf people encounter barriers to accessing cancer information. In this study, a graphically enriched educational video about cervical cancer was created in American Sign Language, with English open captioning and voice overlay. Deaf (n = 127) and hearing (n = 106) women completed cancer knowledge surveys before and after viewing the video. Hearing women yielded higher scores before the intervention. Both groups demonstrated a significant increase in general and cervical cancer knowledge after viewing the video, rendering posttest knowledge scores nearly equal between the groups. These findings indicate that this video is an effective strategy for increasing cervical cancer knowledge among deaf women.

Functional divergences of GAPDH isoforms during early development in two perciform fish species.

PubMed

Sarropoulou, Elena; Nousdili, Dimitra; Kotoulas, Georgios; Magoulas, Antonios

2011-12-01

Glyceraldehyde-3-phospate dehydrogenase (GAPDH) is involved in basic cell catabolic processes and, as it is thought to be continuously expressed, belongs to the group of housekeeping genes. Thus, it is frequently used as an internal control in quantitative gene expression studies. However, the evidence of different expression patterns in a broad range of organisms and tissues, as well as the occurrence of different isoforms, shows that GAPDH has to be reevaluated as an internal control in qPCR studies, and its annotation has to be enriched. GAPDH has been shown to be involved in the pathway of energy and carbon molecule supply as well as in transcription and apoptosis. In the present study, we isolated the two isoforms, GAPDH-1 and GAPDH-2, of the gilthead sea bream (Sparus aurata) and the European sea bass (Dicentrarchus labrax). We inferred the phylogenetic relationships to ten other fish species and gave the gene structure of both genes. We further investigated gene expression analysis in both species for different developmental stages showing divergent gene expression of the two isoforms and the possible function of GAPDH-1 as a maternal gene.

Reorganization of neural systems mediating peripheral visual selective attention in the deaf: An optical imaging study.

PubMed

Seymour, Jenessa L; Low, Kathy A; Maclin, Edward L; Chiarelli, Antonio M; Mathewson, Kyle E; Fabiani, Monica; Gratton, Gabriele; Dye, Matthew W G

2017-01-01

Theories of brain plasticity propose that, in the absence of input from the preferred sensory modality, some specialized brain areas may be recruited when processing information from other modalities, which may result in improved performance. The Useful Field of View task has previously been used to demonstrate that early deafness positively impacts peripheral visual attention. The current study sought to determine the neural changes associated with those deafness-related enhancements in visual performance. Based on previous findings, we hypothesized that recruitment of posterior portions of Brodmann area 22, a brain region most commonly associated with auditory processing, would be correlated with peripheral selective attention as measured using the Useful Field of View task. We report data from severe to profoundly deaf adults and normal-hearing controls who performed the Useful Field of View task while cortical activity was recorded using the event-related optical signal. Behavioral performance, obtained in a separate session, showed that deaf subjects had lower thresholds (i.e., better performance) on the Useful Field of View task. The event-related optical data indicated greater activity for the deaf adults than for the normal-hearing controls during the task in the posterior portion of Brodmann area 22 in the right hemisphere. Furthermore, the behavioral thresholds correlated significantly with this neural activity. This work provides further support for the hypothesis that cross-modal plasticity in deaf individuals appears in higher-order auditory cortices, whereas no similar evidence was obtained for primary auditory areas. It is also the only neuroimaging study to date that has linked deaf-related changes in the right temporal lobe to visual task performance outside of the imaging environment. The event-related optical signal is a valuable technique for studying cross-modal plasticity in deaf humans. The non-invasive and relatively quiet characteristics of this technique have great potential utility in research with clinical populations such as deaf children and adults who have received cochlear or auditory brainstem implants. Copyright © 2016 Elsevier B.V. All rights reserved.

Identification of a Novel C-Terminal Truncated WT1 Isoform with Antagonistic Effects against Major WT1 Isoforms

PubMed Central

Tatsumi, Naoya; Hojo, Nozomi; Sakamoto, Hiroyuki; Inaba, Rena; Moriguchi, Nahoko; Matsuno, Keiko; Fukuda, Mari; Matsumura, Akihide; Hayashi, Seiji; Morimoto, Soyoko; Nakata, Jun; Fujiki, Fumihiro; Nishida, Sumiyuki; Nakajima, Hiroko; Tsuboi, Akihiro; Oka, Yoshihiro; Hosen, Naoki; Sugiyama, Haruo; Oji, Yusuke

2015-01-01

The Wilms’ tumor gene WT1 consists of 10 exons and encodes a zinc finger transcription factor. There are four major WT1 isoforms resulting from alternative splicing at two sites, exon 5 (17AA) and exon 9 (KTS). All major WT1 isoforms are overexpressed in leukemia and solid tumors and play oncogenic roles such as inhibition of apoptosis, and promotion of cell proliferation, migration and invasion. In the present study, a novel alternatively spliced WT1 isoform that had an extended exon 4 (designated as exon 4a) with an additional 153 bp (designated as 4a sequence) at the 3’ end was identified and designated as an Ex4a(+)WT1 isoform. The insertion of exon 4a resulted in the introduction of premature translational stop codons in the reading frame in exon 4a and production of C-terminal truncated WT1 proteins lacking zinc finger DNA-binding domain. Overexpression of the truncated Ex4a(+)WT1 isoform inhibited the major WT1-mediated transcriptional activation of anti-apoptotic Bcl-xL gene promoter and induced mitochondrial damage and apoptosis. Conversely, suppression of the Ex4a(+)WT1 isoform by Ex4a-specific siRNA attenuated apoptosis. These results indicated that the Ex4a(+)WT1 isoform exerted dominant negative effects on anti-apoptotic function of major WT1 isoforms. Ex4a(+)WT1 isoform was endogenously expressed as a minor isoform in myeloid leukemia and solid tumor cells and increased regardless of decrease in major WT1 isoforms during apoptosis, suggesting the dominant negative effects on anti-apoptotic function of major WT1 isoforms. These results indicated that Ex4a(+)WT1 isoform had an important physiological function that regulated oncogenic function of major WT1 isoforms. PMID:26090994

Development of Potent, Selective SRPK1 Inhibitors as Potential Topical Therapeutics for Neovascular Eye Disease.

PubMed

Batson, Jennifer; Toop, Hamish D; Redondo, Clara; Babaei-Jadidi, Roya; Chaikuad, Apirat; Wearmouth, Stephen F; Gibbons, Brian; Allen, Claire; Tallant, Cynthia; Zhang, Jingxue; Du, Chunyun; Hancox, Jules C; Hawtrey, Tom; Da Rocha, Joana; Griffith, Renate; Knapp, Stefan; Bates, David O; Morris, Jonathan C

2017-03-17

Serine/arginine-protein kinase 1 (SRPK1) regulates alternative splicing of VEGF-A to pro-angiogenic isoforms and SRPK1 inhibition can restore the balance of pro/antiangiogenic isoforms to normal physiological levels. The lack of potency and selectivity of available compounds has limited development of SRPK1 inhibitors, with the control of alternative splicing by splicing factor-specific kinases yet to be translated. We present here compounds that occupy a binding pocket created by the unique helical insert of SRPK1, and trigger a backbone flip in the hinge region, that results in potent (<10 nM) and selective inhibition of SRPK1 kinase activity. Treatment with these inhibitors inhibited SRPK1 activity and phosphorylation of serine/arginine splicing factor 1 (SRSF1), resulting in alternative splicing of VEGF-A from pro-angiogenic to antiangiogenic isoforms. This property resulted in potent inhibition of blood vessel growth in models of choroidal angiogenesis in vivo. This work identifies tool compounds for splice isoform selective targeting of pro-angiogenic VEGF, which may lead to new therapeutic strategies for a diversity of diseases where dysfunctional splicing drives disease development.

The Genetics of Deafness in Domestic Animals

PubMed Central

Strain, George M.

2015-01-01

Although deafness can be acquired throughout an animal’s life from a variety of causes, hereditary deafness, especially congenital hereditary deafness, is a significant problem in several species. Extensive reviews exist of the genetics of deafness in humans and mice, but not for deafness in domestic animals. Hereditary deafness in many species and breeds is associated with loci for white pigmentation, where the cochlear pathology is cochleo-saccular. In other cases, there is no pigmentation association and the cochlear pathology is neuroepithelial. Late onset hereditary deafness has recently been identified in dogs and may be present but not yet recognized in other species. Few genes responsible for deafness have been identified in animals, but progress has been made for identifying genes responsible for the associated pigmentation phenotypes. Across species, the genes identified with deafness or white pigmentation patterns include MITF, PMEL, KIT, EDNRB, CDH23, TYR, and TRPM1 in dog, cat, horse, cow, pig, sheep, ferret, mink, camelid, and rabbit. Multiple causative genes are present in some species. Significant work remains in many cases to identify specific chromosomal deafness genes so that DNA testing can be used to identify carriers of the mutated genes and thereby reduce deafness prevalence. PMID:26664958

Multiply Handicapped Deaf Children: Medical, Educational, and Psychological Considerations.

ERIC Educational Resources Information Center

Vernon, McCay

An extensive survey of the literature examines five major etiologies - prenatal rubella, premature birth, complications of Rh factor, meningitis, and genetics - in terms of their relevance to deafness and other disabilities. Following this survey, results of a study of 1,468 deaf children to determine causes of secondary handicaps in deaf children…

38 CFR 17.152 - Devices to assist in overcoming the handicap of deafness.

Code of Federal Regulations, 2012 CFR

2012-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2012-07-01 2012-07-01 false Devices to assist in overcoming the handicap of deafness. 17.152 Section 17.152 Pensions, Bonuses, and Veterans' Relief DEPARTMENT... in overcoming the handicap of deafness. Devices for assisting in overcoming the handicap of deafness...

38 CFR 17.152 - Devices to assist in overcoming the handicap of deafness.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Devices to assist in overcoming the handicap of deafness. 17.152 Section 17.152 Pensions, Bonuses, and Veterans' Relief DEPARTMENT... in overcoming the handicap of deafness. Devices for assisting in overcoming the handicap of deafness...

38 CFR 17.152 - Devices to assist in overcoming the handicap of deafness.

Code of Federal Regulations, 2014 CFR

2014-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2014-07-01 2014-07-01 false Devices to assist in overcoming the handicap of deafness. 17.152 Section 17.152 Pensions, Bonuses, and Veterans' Relief DEPARTMENT... in overcoming the handicap of deafness. Devices for assisting in overcoming the handicap of deafness...

38 CFR 17.152 - Devices to assist in overcoming the handicap of deafness.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2011-07-01 2011-07-01 false Devices to assist in overcoming the handicap of deafness. 17.152 Section 17.152 Pensions, Bonuses, and Veterans' Relief DEPARTMENT... in overcoming the handicap of deafness. Devices for assisting in overcoming the handicap of deafness...

38 CFR 17.152 - Devices to assist in overcoming the handicap of deafness.

Code of Federal Regulations, 2013 CFR

2013-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2013-07-01 2013-07-01 false Devices to assist in overcoming the handicap of deafness. 17.152 Section 17.152 Pensions, Bonuses, and Veterans' Relief DEPARTMENT... in overcoming the handicap of deafness. Devices for assisting in overcoming the handicap of deafness...

Deaf-Blind Perspectives, 1997-1998.

ERIC Educational Resources Information Center

Deaf-Blind Perspectives, 1998

1998-01-01

This one-year collection of three serial issues focuses on problem solving skills for children with deaf-blindness, the history and change in the education of children who are deaf-blind since the rubella epidemic of the 1960's, and early identification of infants who are deaf-blind. Specific articles include: (1) "Research to Practice Focus…

"Life and Deaf": Language and the Myth of "Balance" in Public History

ERIC Educational Resources Information Center

Bergey, Jean Lindquist

2008-01-01

This article chronicles the protest to draft plans for an exhibition on Deaf history organized by Gallaudet University. Jean Bergey, director of the History through Deaf Eyes project, analyzes documents from letters of concern and offers context on the politics of public presentation of Deaf community history. (Contains 1 note.)

Programs for Deaf-Blind Children and Adults.

ERIC Educational Resources Information Center

American Annals of the Deaf, 1993

1993-01-01

The 1992-93 directory of programs for children and adults with deaf-blindness lists (1) 27 state or multistate programs; (2) the national headquarters and the 10 regional offices of the Helen Keller National Center for Deaf Blind Youth and Adults; and (3) seven programs for training teachers of deaf blind students. (DB)

Mapping the reading circuitry for skilled deaf readers: an fMRI study of semantic and phonological processing.

PubMed

Emmorey, Karen; Weisberg, Jill; McCullough, Stephen; Petrich, Jennifer A F

2013-08-01

We examined word-level reading circuits in skilled deaf readers whose primary language is American Sign Language, and hearing readers matched for reading ability (college level). During fMRI scanning, participants performed a semantic decision (concrete concept?), a phonological decision (two syllables?), and a false-font control task (string underlined?). The groups performed equally well on the semantic task, but hearing readers performed better on the phonological task. Semantic processing engaged similar left frontotemporal language circuits in deaf and hearing readers. However, phonological processing elicited increased neural activity in deaf, relative to hearing readers, in the left precentral gyrus, suggesting greater reliance on articulatory phonological codes, and in bilateral parietal cortex, suggesting increased phonological processing effort. Deaf readers also showed stronger anterior-posterior functional segregation between semantic and phonological processes in left inferior prefrontal cortex. Finally, weaker phonological decoding ability did not alter activation in the visual word form area for deaf readers. Copyright © 2013 Elsevier Inc. All rights reserved.

Longitudinal patterns of emerging literacy in beginning deaf and hearing readers.

PubMed

Kyle, Fiona E; Harris, Margaret

2011-01-01

The emerging reading and spelling abilities of 24 deaf and 23 hearing beginning readers were followed over 2 years. The deaf children varied in their language backgrounds and preferred mode of communication. All children were given a range of literacy, cognitive and language-based tasks every 12 months. Deaf and hearing children made similar progress in literacy in the beginning stages of reading development and then their trajectories began to diverge. The longitudinal correlates of beginning reading in the deaf children were earlier vocabulary, letter-sound knowledge, and speechreading. Earlier phonological awareness was not a longitudinal correlate of reading ability once earlier reading levels were controlled. Only letter name knowledge was longitudinally related to spelling ability. Speechreading was also a strong longitudinal correlate of reading and spelling in the hearing children. The findings suggested that deaf and hearing children utilize slightly different reading strategies over the first 2 years of schooling. © The Author 2011. Published by Oxford University Press. All rights reserved.

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

PubMed

Gonçalves, Catarina; Bastos, Margarida; Pignatelli, Duarte; Borges, Teresa; Aragüés, José M; Fonseca, Fernando; Pereira, Bernardo D; Socorro, Sílvia; Lemos, Manuel C

2015-11-01

To determine the prevalence of fibroblast growth factor receptor 1 (FGFR1) mutations and their predicted functional consequences in patients with idiopathic hypogonadotropic hypogonadism (IHH). Cross-sectional study. Multicentric. Fifty unrelated patients with IHH (21 with Kallmann syndrome and 29 with normosmic IHH). None. Patients were screened for mutations in FGFR1. The functional consequences of mutations were predicted by in silico structural and conservation analysis. Heterozygous FGFR1 mutations were identified in six (12%) kindreds. These consisted of frameshift mutations (p.Pro33-Alafs*17 and p.Tyr654*) and missense mutations in the signal peptide (p.Trp4Cys), in the D1 extracellular domain (p.Ser96Cys) and in the cytoplasmic tyrosine kinase domain (p.Met719Val). A missense mutation was identified in the alternatively spliced exon 8A (p.Ala353Thr) that exclusively affects the D3 extracellular domain of FGFR1 isoform IIIb. Structure-based and sequence-based prediction methods and the absence of these variants in 200 normal controls were all consistent with a critical role for the mutations in the activity of the receptor. Oligogenic inheritance (FGFR1/CHD7/PROKR2) was found in one patient. Two FGFR1 isoforms, IIIb and IIIc, result from alternative splicing of exons 8A and 8B, respectively. Loss-of-function of isoform IIIc is a cause of IHH, whereas isoform IIIb is thought to be redundant. Ours is the first report of normosmic IHH associated with a mutation in the alternatively spliced exon 8A and suggests that this disorder can be caused by defects in either of the two alternatively spliced FGFR1 isoforms. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Grey matter connectivity within and between auditory, language and visual systems in prelingually deaf adolescents.

PubMed

Li, Wenjing; Li, Jianhong; Wang, Zhenchang; Li, Yong; Liu, Zhaohui; Yan, Fei; Xian, Junfang; He, Huiguang

2015-01-01

Previous studies have shown brain reorganizations after early deprivation of auditory sensory. However, changes of grey matter connectivity have not been investigated in prelingually deaf adolescents yet. In the present study, we aimed to investigate changes of grey matter connectivity within and between auditory, language and visual systems in prelingually deaf adolescents. We recruited 16 prelingually deaf adolescents and 16 age-and gender-matched normal controls, and extracted the grey matter volume as the structural characteristic from 14 regions of interest involved in auditory, language or visual processing to investigate the changes of grey matter connectivity within and between auditory, language and visual systems. Sparse inverse covariance estimation (SICE) was utilized to construct grey matter connectivity between these brain regions. The results show that prelingually deaf adolescents present weaker grey matter connectivity within auditory and visual systems, and connectivity between language and visual systems declined. Notably, significantly increased brain connectivity was found between auditory and visual systems in prelingually deaf adolescents. Our results indicate "cross-modal" plasticity after deprivation of the auditory input in prelingually deaf adolescents, especially between auditory and visual systems. Besides, auditory deprivation and visual deficits might affect the connectivity pattern within language and visual systems in prelingually deaf adolescents.

Control of human energy expenditure by cytochrome c oxidase subunit IV-2.

PubMed

Schiffer, Tomas A; Peleli, Maria; Sundqvist, Michaela L; Ekblom, Björn; Lundberg, Jon O; Weitzberg, Eddie; Larsen, Filip J

2016-09-01

Resting metabolic rate (RMR) in humans shows pronounced individual variations, but the underlying molecular mechanism remains elusive. Cytochrome c oxidase (COX) plays a key role in control of metabolic rate, and recent studies of the subunit 4 isoform 2 (COX IV-2) indicate involvement in the cellular response to hypoxia and oxidative stress. We evaluated whether the COX subunit IV isoform composition may explain the pronounced individual variations in resting metabolic rate (RMR). RMR was determined in healthy humans by indirect calorimetry and correlated to levels of COX IV-2 and COX IV-1 in vastus lateralis. Overexpression and knock down of the COX IV isoforms were performed in primary myotubes followed by evaluation of the cell respiration and production of reactive oxygen species. Here we show that COX IV-2 protein is constitutively expressed in human skeletal muscle and strongly correlated to RMR. Primary human myotubes overexpressing COX IV-2 displayed markedly (>60%) lower respiration, reduced (>50%) cellular H2O2 production, higher resistance toward both oxidative stress, and severe hypoxia compared with control cells. These results suggest an important role of isoform COX IV-2 in the control of energy expenditure, hypoxic tolerance, and mitochondrial ROS homeostasis in humans. Copyright © 2016 the American Physiological Society.

Modeled microgravity-induced protein kinase C isoform expression in human lymphocytes

NASA Technical Reports Server (NTRS)

Sundaresan, A.; Risin, D.; Pellis, N. R.

2004-01-01

In long-term space travel, the crew is exposed to microgravity and radiation that invoke potential hazards to the immune system. T cell activation is a critical step in the immune response. Receptor-mediated signaling is inhibited in both microgravity and modeled microgravity (MMG) as reflected by diminished DNA synthesis in peripheral blood lymphocytes and their locomotion through gelled type I collagen. Direct activation of protein kinase C (PKC) bypassing cell surface events using the phorbol ester PMA rescues MMG-inhibited lymphocyte activation and locomotion, whereas the calcium ionophore ionomycin had no rescue effect. Thus calcium-independent PKC isoforms may be affected in MMG-induced locomotion inhibition and rescue. Both calcium-dependent isoforms and calcium-independent PKC isoforms were investigated to assess their expression in lymphocytes in 1 g and MMG culture. Human lymphocytes were cultured and harvested at 24, 48, 72, and 96 h, and serial samples were assessed for locomotion by using type I collagen and expression of PKC isoforms. Expression of PKC-alpha, -delta, and -epsilon was assessed by RT-PCR, flow cytometry, and immunoblotting. Results indicated that PKC isoforms delta and epsilon were downregulated by >50% at the transcriptional and translational levels in MMG-cultured lymphocytes compared with 1-g controls. Events upstream of PKC, such as phosphorylation of phospholipase Cgamma in MMG, revealed accumulation of inactive enzyme. Depressed calcium-independent PKC isoforms may be a consequence of an upstream lesion in the signal transduction pathway. The differential response among calcium-dependent and calcium-independent isoforms may actually result from MMG intrusion events earlier than PKC, but after ligand-receptor interaction.

A comparison of the brainstem auditory evoked response in healthy ears of unilaterally deaf dogs and bilaterally hearing dogs.

PubMed

Plonek, M; Nicpoń, J; Kubiak, K; Wrzosek, M

2017-03-01

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. 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. The data obtained from the hearing ears in unilaterally deaf dogs were compared to values obtained from their healthy littermates. Statistically significant differences in the amplitude of wave III and the V/I wave amplitude ratio at 75 dB nHL were found between the group of unilaterally deaf puppies and the control group. The recordings of dogs with single-sided deafness were compared, and the results showed no statistically significant differences in the latencies and amplitudes of the waves between left- (AL) and right-sided (AR) deafness. The recordings of the brainstem auditory evoked response in canines with unilateral inborn deafness in this study varied compared to recordings from healthy dogs. Future studies looking into electrophysiological assessment of hearing in conjunction with imaging modalities to determine subcortical auditory plasticity and auditory lateralization in unilaterally deaf dogs are warranted.

Georgia Deaf-Blind Project. Final Report, 1992-1995. State and Multi-State Projects for Children with Deaf-Blindness.

ERIC Educational Resources Information Center

Georgia State Dept. of Education, Atlanta.

This final report describes activities and accomplishments of the Georgia Deaf-Blind Project, a 3-year federally supported project encompassing 159 counties and providing technical assistance to 237 infants, children, and youth with deaf-blindness along with their families and their service providers. Project accomplishments included: (1) more…

Pre-Career Curriculum Guide for Deaf-Blind. Parts I-III.

ERIC Educational Resources Information Center

Carr, LaVernya K.; And Others

The two-volume document provides a pre-career curriculum guide for professionals and teachers working with deaf-blind students. Part 1 contains professionals and teachers working with deaf-blind students. Part I contains introductory information. Pointed out is the void in providing adequate programs for deaf-blind students over the age of 10.…

A Comparison of Intellectual Structure in Deaf and Hearing Children.

ERIC Educational Resources Information Center

Zwiebel, Abraham; Mertens, Donna M.

1985-01-01

Results of Snijders-Oomen Nonverbal Intelligence Test for 251 deaf and 101 hearing children in Israel included that (1) factor structure for total deaf group differs from that of hearing group; (2) differences in cognitive structure were evident by age level for deaf; and (3) differences exist between cognitive structures of hearing and deaf…

Raising and Educating a Deaf Child.

ERIC Educational Resources Information Center

Marschark, Marc

This book discusses the development of children who are deaf or hard of hearing and the educational and practical issues that face them and their families. Chapters discuss: (1) the effect of a child with deafness on a family, and family adjustment to early childhood hearing loss; (2) the population of people who are deaf, the causes of early…

A pseudogene long noncoding RNA network regulates PTEN transcription and translation in human cells

PubMed Central

Johnsson, Per; Ackley, Amanda; Vidarsdottir, Linda; Lui, Weng-Onn; Corcoran, Martin; Grandér, Dan; Morris, Kevin V.

2013-01-01

PTEN is a tumor suppressor gene that has been shown to be under the regulatory control of a PTEN pseudogene expressed noncoding RNA, PTENpg1. Here, we characterize a previously unidentified PTENpg1 encoded antisense RNA (asRNA), which regulates PTEN transcription and PTEN mRNA stability. We find two PTENpg1 asRNA isoforms, alpha and beta. The alpha isoform functions in trans, localizes to the PTEN promoter, and epigenetically modulates PTEN transcription by the recruitment of DNMT3a and EZH2. In contrast, the beta isoform interacts with PTENpg1 through an RNA:RNA pairing interaction, which affects PTEN protein output via changes of PTENpg1 stability and microRNA sponge activity. Disruption of this asRNA-regulated network induces cell cycle arrest and sensitizes cells to doxorubicin, suggesting a biological function for the respective PTENpg1 expressed asRNAs. PMID:23435381

A pseudogene long-noncoding-RNA network regulates PTEN transcription and translation in human cells.

PubMed

Johnsson, Per; Ackley, Amanda; Vidarsdottir, Linda; Lui, Weng-Onn; Corcoran, Martin; Grandér, Dan; Morris, Kevin V

2013-04-01

PTEN is a tumor-suppressor gene that has been shown to be under the regulatory control of a PTEN pseudogene expressed noncoding RNA, PTENpg1. Here, we characterize a previously unidentified PTENpg1-encoded antisense RNA (asRNA), which regulates PTEN transcription and PTEN mRNA stability. We find two PTENpg1 asRNA isoforms, α and β. The α isoform functions in trans, localizes to the PTEN promoter and epigenetically modulates PTEN transcription by the recruitment of DNA methyltransferase 3a and Enhancer of Zeste. In contrast, the β isoform interacts with PTENpg1 through an RNA-RNA pairing interaction, which affects PTEN protein output through changes of PTENpg1 stability and microRNA sponge activity. Disruption of this asRNA-regulated network induces cell-cycle arrest and sensitizes cells to doxorubicin, which suggests a biological function for the respective PTENpg1 expressed asRNAs.

The Drosophila indirect flight muscle myosin heavy chain isoform is insufficient to transform the jump muscle into a highly stretch-activated muscle type.

PubMed

Zhao, Cuiping; Swank, Douglas M

2017-02-01

Stretch activation (SA) is a delayed increase in force that enables high power and efficiency from a cyclically contracting muscle. SA exists in various degrees in almost all muscle types. In Drosophila, the indirect flight muscle (IFM) displays exceptionally high SA force production (F SA ), whereas the jump muscle produces only minimal F SA We previously found that expressing an embryonic (EMB) myosin heavy chain (MHC) isoform in the jump muscle transforms it into a moderately SA muscle type and enables positive cyclical power generation. To investigate whether variation in MHC isoforms is sufficient to produce even higher F SA , we substituted the IFM MHC isoform (IFI) into the jump muscle. Surprisingly, we found that IFI only caused a 1.7-fold increase in F SA , less than half the increase previously observed with EMB, and only at a high Pi concentration, 16 mM. This IFI-induced F SA is much less than what occurs in IFM, relative to isometric tension, and did not enable positive cyclical power generation by the jump muscle. Both isometric tension and F SA of control fibers decreased with increasing Pi concentration. However, for IFI-expressing fibers, only isometric tension decreased. The rate of F SA generation was ~1.5-fold faster for IFI fibers than control fibers, and both rates were Pi dependent. We conclude that MHC isoforms can alter F SA and hence cyclical power generation but that isoforms can only endow a muscle type with moderate F SA Highly SA muscle types, such as IFM, likely use a different or additional mechanism. Copyright © 2017 the American Physiological Society.

Program Development in Recreation Service for the Deaf-Blind. Based on Papers and Proceedings of National Institute on Program Development and Training in Recreation for Deaf-Blind Children, Youth and Adults (Iowa City, Iowa, April 29-May 1, 1974).

ERIC Educational Resources Information Center

Nesbitt, John A., Ed.; Howard, Gordon K., Ed.

Presented are papers and proceedings of the National Institute on Program Development and Training in Recreation for Deaf-Blind Children, Youth and Adults (Iowa, 1974). Chapters 1-3 summarize institute participants' views on topics such as normalization, needs, and advocacy for the deaf-blind (DB); report a consumer's, a parent's, a rehabilitation…

Post-translational cleavage of Hv1 in human sperm tunes pH- and voltage-dependent gating.

PubMed

Berger, Thomas K; Fußhöller, David M; Goodwin, Normann; Bönigk, Wolfgang; Müller, Astrid; Dokani Khesroshahi, Nasim; Brenker, Christoph; Wachten, Dagmar; Krause, Eberhard; Kaupp, U Benjamin; Strünker, Timo

2017-03-01

In human sperm, proton flux across the membrane is controlled by the voltage-gated proton channel Hv1. We show that sperm harbour both Hv1 and an N-terminally cleaved isoform termed Hv1Sper. The pH-control of Hv1Sper and Hv1 is distinctively different. Hv1Sper and Hv1 can form heterodimers that combine features of both constituents. Cleavage and heterodimerization of Hv1 might represent an adaptation to the specific requirements of pH control in sperm. In human sperm, the voltage-gated proton channel Hv1 controls the flux of protons across the flagellar membrane. Here, we show that sperm harbour Hv1 and a shorter isoform, termed Hv1Sper. Hv1Sper is generated from Hv1 by removal of 68 amino acids from the N-terminus by post-translational proteolytic cleavage. The pH-dependent gating of the channel isoforms is distinctly different. In both Hv1 and Hv1Sper, the conductance-voltage relationship is determined by the pH difference across the membrane (∆pH). However, simultaneous changes in intracellular and extracellular pH that leave ΔpH constant strongly shift the activation curve of Hv1Sper but not that of Hv1, demonstrating that cleavage of the N-terminus tunes pH sensing in Hv1. Moreover, we show that Hv1 and Hv1Sper assemble as heterodimers that combine features of both constituents. We suggest that cleavage and heterodimerization of Hv1 represents an adaptation to the specific requirements of pH control in sperm. © 2016 The Authors. The Journal of Physiology © 2016 The Physiological Society.

An Eye Tracking Study on the Perception and Comprehension of Unimodal and Bimodal Linguistic Inputs by Deaf Adolescents

PubMed Central

Mastrantuono, Eliana; Saldaña, David; Rodríguez-Ortiz, Isabel R.

2017-01-01

An eye tracking experiment explored the gaze behavior of deaf individuals when perceiving language in spoken and sign language only, and in sign-supported speech (SSS). Participants were deaf (n = 25) and hearing (n = 25) Spanish adolescents. Deaf students were prelingually profoundly deaf individuals with cochlear implants (CIs) used by age 5 or earlier, or prelingually profoundly deaf native signers with deaf parents. The effectiveness of SSS has rarely been tested within the same group of children for discourse-level comprehension. Here, video-recorded texts, including spatial descriptions, were alternately transmitted in spoken language, sign language and SSS. The capacity of these communicative systems to equalize comprehension in deaf participants with that of spoken language in hearing participants was tested. Within-group analyses of deaf participants tested if the bimodal linguistic input of SSS favored discourse comprehension compared to unimodal languages. Deaf participants with CIs achieved equal comprehension to hearing controls in all communicative systems while deaf native signers with no CIs achieved equal comprehension to hearing participants if tested in their native sign language. Comprehension of SSS was not increased compared to spoken language, even when spatial information was communicated. Eye movements of deaf and hearing participants were tracked and data of dwell times spent looking at the face or body area of the sign model were analyzed. Within-group analyses focused on differences between native and non-native signers. Dwell times of hearing participants were equally distributed across upper and lower areas of the face while deaf participants mainly looked at the mouth area; this could enable information to be obtained from mouthings in sign language and from lip-reading in SSS and spoken language. Few fixations were directed toward the signs, although these were more frequent when spatial language was transmitted. Both native and non-native signers looked mainly at the face when perceiving sign language, although non-native signers looked significantly more at the body than native signers. This distribution of gaze fixations suggested that deaf individuals – particularly native signers – mainly perceived signs through peripheral vision. PMID:28680416

An Eye Tracking Study on the Perception and Comprehension of Unimodal and Bimodal Linguistic Inputs by Deaf Adolescents.

PubMed

Mastrantuono, Eliana; Saldaña, David; Rodríguez-Ortiz, Isabel R

2017-01-01

An eye tracking experiment explored the gaze behavior of deaf individuals when perceiving language in spoken and sign language only, and in sign-supported speech (SSS). Participants were deaf ( n = 25) and hearing ( n = 25) Spanish adolescents. Deaf students were prelingually profoundly deaf individuals with cochlear implants (CIs) used by age 5 or earlier, or prelingually profoundly deaf native signers with deaf parents. The effectiveness of SSS has rarely been tested within the same group of children for discourse-level comprehension. Here, video-recorded texts, including spatial descriptions, were alternately transmitted in spoken language, sign language and SSS. The capacity of these communicative systems to equalize comprehension in deaf participants with that of spoken language in hearing participants was tested. Within-group analyses of deaf participants tested if the bimodal linguistic input of SSS favored discourse comprehension compared to unimodal languages. Deaf participants with CIs achieved equal comprehension to hearing controls in all communicative systems while deaf native signers with no CIs achieved equal comprehension to hearing participants if tested in their native sign language. Comprehension of SSS was not increased compared to spoken language, even when spatial information was communicated. Eye movements of deaf and hearing participants were tracked and data of dwell times spent looking at the face or body area of the sign model were analyzed. Within-group analyses focused on differences between native and non-native signers. Dwell times of hearing participants were equally distributed across upper and lower areas of the face while deaf participants mainly looked at the mouth area; this could enable information to be obtained from mouthings in sign language and from lip-reading in SSS and spoken language. Few fixations were directed toward the signs, although these were more frequent when spatial language was transmitted. Both native and non-native signers looked mainly at the face when perceiving sign language, although non-native signers looked significantly more at the body than native signers. This distribution of gaze fixations suggested that deaf individuals - particularly native signers - mainly perceived signs through peripheral vision.

An acoustic analysis of laughter produced by congenitally deaf and normally hearing college students.

PubMed

Makagon, Maja M; Funayama, E Sumie; Owren, Michael J

2008-07-01

Relatively few empirical data are available concerning the role of auditory experience in nonverbal human vocal behavior, such as laughter production. This study compared the acoustic properties of laughter in 19 congenitally, bilaterally, and profoundly deaf college students and in 23 normally hearing control participants. Analyses focused on degree of voicing, mouth position, air-flow direction, temporal features, relative amplitude, fundamental frequency, and formant frequencies. Results showed that laughter produced by the deaf participants was fundamentally similar to that produced by the normally hearing individuals, which in turn was consistent with previously reported findings. Finding comparable acoustic properties in the sounds produced by deaf and hearing vocalizers confirms the presumption that laughter is importantly grounded in human biology, and that auditory experience with this vocalization is not necessary for it to emerge in species-typical form. Some differences were found between the laughter of deaf and hearing groups; the most important being that the deaf participants produced lower-amplitude and longer-duration laughs. These discrepancies are likely due to a combination of the physiological and social factors that routinely affect profoundly deaf individuals, including low overall rates of vocal fold use and pressure from the hearing world to suppress spontaneous vocalizations.

Deaf and hearing children's development of theory of mind, peer popularity, and leadership during middle childhood.

PubMed

Peterson, Candida C; O'Reilly, Karin; Wellman, Henry M

2016-09-01

This study had two primary aims. First, we compared deaf and hearing children during middle and late childhood on (a) cognitive understanding of basic and advanced theory of mind (ToM) and (b) social dimensions of peer group relations, including popularity, isolation, leadership, and the disposition to interact positively with peers. Second, using correlational analyses, we examined ToM's connections with these social variables to see whether and how ToM impacts children's social lives. A total of 57 children (36 deaf children of hearing parents and 21 hearing children) 6 to 14years of age completed a 6-step developmental ToM Scale, and their teachers reported on the social variables. Hearing children outperformed deaf children on ToM and all teacher-rated variables. For deaf children, popularity correlated positively, and social isolation correlated negatively, with ToM even after controlling for age, gender, and language ability. For hearing children, the only ToM link was a weak correlation with leadership. Possible reasons for the differences between deaf and hearing groups are discussed, together with the likelihood of bidirectional causal links and implications for deaf children's social development in school. Copyright © 2015 Elsevier Inc. All rights reserved.

FGF2 High Molecular Weight Isoforms Contribute to Osteoarthropathy in Male Mice

PubMed Central

Meo Burt, Patience; Xiao, Liping; Dealy, Caroline; Fisher, Melanie C.

2016-01-01

Humans with X-linked hypophosphatemia (XLH) and Hyp mice, the murine homolog of the disease, develop severe osteoarthropathy and the precise factors that contribute to this joint degeneration remain largely unknown. Fibroblast growth factor 2 (FGF2) is a key regulatory growth factor in osteoarthritis. Although there are multiple FGF2 isoforms the potential involvement of specific FGF2 isoforms in joint degradation has not been investigated. Mice that overexpress the high molecular weight FGF2 isoforms in bone (HMWTg mice) phenocopy Hyp mice and XLH subjects and Hyp mice overexpress the HMWFGF2 isoforms in osteoblasts and osteocytes. Given that Hyp mice and XLH subjects develop osteoarthropathies we examined whether HMWTg mice also develop knee joint degeneration at 2, 8, and 18 mo compared with VectorTg (control) mice. HMWTg mice developed spontaneous osteoarthropathy as early as age 2 mo with thinning of subchondral bone, osteophyte formation, decreased articular cartilage thickness, abnormal mineralization within the joint, increased cartilage degradative enzymes, hypertrophic markers, and angiogenesis. FGF receptors 1 and 3 and fibroblast growth factor 23 were significantly altered compared with VectorTg mice. In addition, gene expression of growth factors and cytokines including bone morphogenetic proteins, Insulin like growth factor 1, Interleukin 1 beta, as well as transcription factors Sex determining region Y box 9, hypoxia inducible factor 1, and nuclear factor kappa B subunit 1 were differentially modulated in HMWTg compared with VectorTg. This study demonstrates that overexpression of the HMW isoforms of FGF2 in bone results in catabolic activity in joint cartilage and bone that leads to osteoarthropathy. PMID:27732085

Impact of genetic counseling and Connexin-26 and Connexin-30 testing on deaf identity and comprehension of genetic test results in a sample of deaf adults: a prospective, longitudinal study.

PubMed

Palmer, Christina G S; Boudreault, Patrick; Baldwin, Erin E; Sinsheimer, Janet S

2014-01-01

Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results.

Do You See What I See? School Perspectives of Deaf Children, Hearing Children, and Their Parents

PubMed Central

Marschark, Marc; Bull, Rebecca; Sapere, Patricia; Nordmann, Emily; Skene, Wendy; Lukomski, Jennifer; Lumsden, Sarah

2013-01-01

Perspectives on academic and social aspects of children's school experiences were obtained from deaf and hearing children and their (deaf or hearing) parents. Possible differences between (1) the views of children and their parents and (2) those of hearing children and their parents compared to deaf children and their parents were of particular interest. Overall, parents gave their children higher school friendship ratings than the children gave themselves, and hearing children and their parents were more positive about children's friendships than were deaf children and their parents. Both children and parents also saw deaf children as less successful in reading than hearing children. However, deaf children’s having deaf parents, attending a school for the deaf, and using sign language at home all were associated with more positive perceptions of social success. Use of cochlear implants was not associated with perceptions of greater academic or social success. These and related findings are discussed in the context of parent and child perspectives on social and academic functioning and particular challenges confronted by deaf children in regular school settings. PMID:23543959

Deafness on the island of Providencia - Colombia: different etiology, different genetic counseling.

PubMed

Lattig, M C; Gelvez, N; Plaza, S L; Tamayo, G; Uribe, J I; Salvatierra, I; Bernal, J E; Tamayo, M L

2008-01-01

Providencia is a small island located in the Caribbean Ocean, northwest of Colombia with an unusually high frequency of individuals with hearing loss (5 in 1,000) is present. The hearing loss in the island was characterized as non-syndromic autosomal recessive deafness accounting for 47% (8/17) of the deaf population, Waardenburg Syndrome (deafness associated with pigmentary anomalies) for 29% (5/17), and the remaining 24% (4/17) are cases of sporadic non-syndromic deafness. For appropriate genetic counseling a complete pedigree of families with deaf individuals was constructed. The 35delG mutation in GJB2 gene, which encodes connexin 26 (Cx26), is responsible for the deafness observed in the 8 individuals with autosomal recessive non-syndromic hearing loss. The deaf individuals with Waardenburg Syndrome and the sporadic cases did not have this mutation. Therefore, we present here an atypical case of an isolated community with at least two different genetic etiologies for deafness: non-syndromic genetic deafness caused by the 35delG mutation in the GJB2 gene and deafness associated with Waardenburg Syndrome not related to GJB2. In a small and isolated population, it is feasible to assume that the deafness is caused by the same factor; however, Providencia is an atypical case. Therefore, it is extremely important to define the exact etiology of deafness in each case, since different etiologies require different genetic counseling.

Effects of a Cognitive Behavioral Self-Help Program on Emotional Problems for People with Acquired Hearing Loss: A Randomized Controlled Trial

ERIC Educational Resources Information Center

Garnefski, Nadia; Kraaij, Vivian

2012-01-01

The aim of the study was to examine whether a cognitive-behavioral self-help program was effective in improving depressed mood and anxiety in people with acquired deafness. Participants were 45 persons with acquired deafness, randomly allocated to the Cognitive-Behavioral Self-help (CBS) group or the Waiting List Control (WLC) group. Depression…

California Deaf-Blind Services Final Report, October 1, 1995-September 30, 1999 [and] October 1, 1999-June 30, 2000 (No Cost Extension).

ERIC Educational Resources Information Center

Goertz, Lori; Franklin, Barbara

This final report describes the activities and outcomes of the California Deaf-Blind Services (CDBS) program, a regionally based, family focused technical assistance and training project designed to improve services to children with deaf-blindness. The project conducted the following activities: (1) provided technical assistance to families and…

Do You See What I See? School Perspectives of Deaf Children, Hearing Children and Their Parents

ERIC Educational Resources Information Center

Marschark, Marc; Bull, Rebecca; Sapere, Patricia; Nordmann, Emily; Skene, Wendy; Lukomski, Jennifer; Lumsden, Sarah

2012-01-01

Perspectives on academic and social aspects of children's school experiences were obtained from deaf and hearing children and their (deaf or hearing) parents. Possible differences between (1) the views of children and their parents and (2) those of hearing children and their parents compared to deaf children and their parents were of particular…

Welcoming Students Who Are Deaf-Blind into Typical Classrooms: Facilitating School Participation, Learning, and Friendships.

ERIC Educational Resources Information Center

Haring, Norris G., Ed.; Romer, Lyle T., Ed.

This collection of 18 papers focuses on the inclusion of students who are deaf-blind in regular classrooms. Papers include: (1) "Inclusion of Students Who Are Deaf-Blind: What Does the Future Hold?" (Lori Goetz); (2) "A History of Federal Support for Students with Deaf-Blindness" (R. Paul Thompson and Charles W. Freeman); (3)…

Reading Difficulties in Adult Deaf Readers of French: Phonological Codes, Not Guilty!

ERIC Educational Resources Information Center

Belanger, Nathalie N.; Baum, Shari R.; Mayberry, Rachel I.

2012-01-01

Deaf people often achieve low levels of reading skills. The hypothesis that the use of phonological codes is associated with good reading skills in deaf readers is not yet fully supported in the literature. We investigated skilled and less skilled adult deaf readers' use of orthographic and phonological codes in reading. Experiment 1 used a masked…

A Guide for Professionals Serving Hearing Children with Deaf Parents. Technical Report.

ERIC Educational Resources Information Center

Singleton, Jenny L.; Tittle, Matthew D.

The recognition within the past few decades of the American Deaf Community as an indigenous cultural and linguistic minority group has altered the previous view of deaf individuals by the "hearing world" as being handicapped or disabled. The primary goals of this technical report are: (1) to compare a cultural view of deafness to the traditional,…

Differential Expression of Metallothionein Isoforms in Terrestrial Snail Embryos Reflects Early Life Stage Adaptation to Metal Stress

PubMed Central

Baurand, Pierre-Emmanuel; Pedrini-Martha, Veronika; de Vaufleury, Annette; Niederwanger, Michael; Capelli, Nicolas; Scheifler, Renaud; Dallinger, Reinhard

2015-01-01

The aim of this study was to analyze the expression of three metallothionein (MT) isoform genes (CdMT, CuMT and Cd/CuMT), already known from adults, in the Early Life Stage (ELS) of Cantareus aspersus. This was accomplished by detection of the MT isoform-specific transcription adopting Polymerase Chain Reaction (PCR) amplification and quantitative Real Time (qRT)-PCR of the three MT genes. Freshly laid eggs were kept for 24 hours under control conditions or exposed to three cadmium (Cd) solutions of increasing concentration (5, 10, and 15 mg Cd/L). The transcription of the three MT isoform genes was detected via PCR in 1, 6 and 12-day-old control or Cd-exposed embryos. Moreover, the transcription of this isoform genes during development was followed by qRT-PCR in 6 and 12-day-old embryos. Our results showed that the CdMT and Cd/CuMT genes, but not the CuMT gene, are expressed in embryos at the first day of development. The transcription of the 3 MT genes in control embryos increased with development time, suggesting that the capacities of metal regulation and detoxification may have gradually increased throughout embryogenesis. However in control embryos, the most highly expressed MT gene was that of the Cd/CuMT isoform, whose transcription levels greatly exceeded those of the other two MT genes. This contrasts with the minor significance of this gene in adult snails and suggests that in embryos, this isoform may play a comparatively more important role in metal physiology compared to adult individuals. This function in adult snails appears not to be related to Cd detoxification. Instead, snail embryos responded to Cd exposure by over-expression of the CdMT gene in a concentration-dependent manner, whereas the expression of the Cd/CuMT gene remained unaffected. Moreover, our study demonstrates the ability of snail embryos to respond very early to Cd exposure by up-regulation of the CdMT gene. PMID:25706953

Verbal and spatial analogical reasoning in deaf and hearing children: the role of grammar and vocabulary.

PubMed

Edwards, Lindsey; Figueras, Berta; Mellanby, Jane; Langdon, Dawn

2011-01-01

The extent to which cognitive development and abilities are dependent on language remains controversial. In this study, the analogical reasoning skills of deaf and hard of hearing children are explored. Two groups of children (deaf and hard of hearing children with either cochlear implants or hearing aids and hearing children) completed tests of verbal and spatial analogical reasoning. Their vocabulary and grammar skills were also assessed to provide a measure of language attainment. Results indicated significant differences between the deaf and hard of hearing children (regardless of type of hearing device) and their hearing peers on vocabulary, grammar, and verbal reasoning tests. Regression analyses revealed that in the group of deaf and hard of hearing children, but not in the hearing group, the language measures were significant predictors of verbal analogical reasoning, when age and spatial analogical reasoning ability were controlled for. The implications of these findings are discussed.

Prefrontal mRNA expression of long and short isoforms of D2 dopamine receptor: Possible role in delayed learning deficit caused by early life interleukin-1β treatment.

PubMed

Schwarz, Alexander P; Trofimov, Alexander N; Zubareva, Olga E; Lioudyno, Victoria I; Kosheverova, Vera V; Ischenko, Alexander M; Klimenko, Victor M

2017-08-30

Long (D2L) and short (D2S) isoform of the D2 dopamine receptor are believed to play different roles in behavioral regulation. However, little is known about differential regulation of these isoforms mRNA expression during the process of learning in physiological and pathological states. In this study, we have investigated the combined effect of training in active avoidance (AA) paradigm and chronic early life treatment with pro-inflammatory cytokine interleukin (IL)-1β (1μg/kg i.p., P15-21) on D2S and D2L dopamine receptor mRNA expression in the medial prefrontal cortex (mPFC) of adult rats. We have shown differential regulation of D2 short and long mRNA isoform expression in the mPFC. There was no effect of AA-training on D2S mRNA expression, while D2L mRNA was downregulated in AA-trained control (intact and saline-treated) animals, and this effect was not observed in rats treated with IL-1β. D2S mRNA expression level negatively correlated with learning ability within control (saline-treated and intact) groups but not in IL-1β-treated animals. Thus, prefrontal expression of distinct D2 dopamine receptor splice variants is supposed to be implicated in cognitive decline caused by early life immune challenge. Copyright © 2017 Elsevier B.V. All rights reserved.

Identification of a Specific Isoform of Tomato Lipoxygenase (TomloxC) Involved in the Generation of Fatty Acid-Derived Flavor Compounds1

PubMed Central

Chen, Guoping; Hackett, Rachel; Walker, David; Taylor, Andy; Lin, Zhefeng; Grierson, Donald

2004-01-01

There are at least five lipoxygenases (TomloxA, TomloxB, TomloxC, TomloxD, and TomloxE) present in tomato (Lycopersicon esculentum Mill.) fruit, but their role in generation of fruit flavor volatiles has been unclear. To assess the physiological role of TomloxC in the generation of volatile C6 aldehyde and alcohol flavor compounds, we produced transgenic tomato plants with greatly reduced TomloxC using sense and antisense constructs under control of the cauliflower mosaic virus 35S promoter. The expression level of the TomloxC mRNA in some transgenic plants was selectively reduced by gene silencing or antisense inhibition to between 1% and 5% of the wild-type controls, but the expression levels of mRNAs for the four other isoforms were unaffected. The specific depletion of TomloxC in transgenic tomatoes led to a marked reduction in the levels of known flavor volatiles, including hexanal, hexenal, and hexenol, to as little as 1.5% of those of wild-type controls following maceration of ripening fruit. Addition of linoleic or linolenic acid to fruit homogenates significantly increased the levels of flavor volatiles, but the increase with the TomloxC-depleted transgenic fruit extracts was much lower than with the wild-type control. Confocal imaging of tobacco (Nicotiana tabacum) leaf cells expressing a TomloxC-GFP fusion confirmed a chloroplast localization of the protein. Together, these results suggest that TomloxC is a chloroplast-targeted lipoxygenase isoform that can use both linoleic and linolenic acids as substrates to generate volatile C6 flavor compounds. The roles of the other lipoxygenase isoforms are discussed. PMID:15347800

Akt1 Controls the Timing and Amplitude of Vascular Circadian Gene Expression

PubMed Central

Luciano, Amelia K.; Santana, Jeans M.; Velazquez, Heino; Sessa, William C.

2017-01-01

The AKT signaling pathway is important for circadian rhythms in mammals and flies (Drosophila). However, AKT signaling in mammals is more complicated since there are 3 isoforms of AKT, each performing slightly different functions. Here we study the most ubiquitous AKT isoform, Akt1, and its role at the organismal level in the central and vascular peripheral clocks. Akt1−/− mice exhibit relatively normal behavioral rhythms with only minor differences in circadian gene expression in the liver and heart. However, circadian gene expression in the Akt1−/− aorta, compared with control aorta, follows a distinct pattern. In the Akt1−/− aorta, positive regulators of circadian transcription have lower amplitude rhythms and peak earlier in the day, and negative circadian regulators are expressed at higher amplitudes and peak later in the day. In endothelial cells, negative circadian regulators exhibit an increased amplitude of expression, while the positive circadian regulators are arrhythmic with a decreased amplitude of expression. This indicates that Akt1 conditions the normal circadian rhythm in the vasculature more so than in other peripheral tissues where other AKT isoforms or kinases might be important for daily rhythms. PMID:28452287

Akt1 Controls the Timing and Amplitude of Vascular Circadian Gene Expression.

PubMed

Luciano, Amelia K; Santana, Jeans M; Velazquez, Heino; Sessa, William C

2017-06-01

The AKT signaling pathway is important for circadian rhythms in mammals and flies ( Drosophila). However, AKT signaling in mammals is more complicated since there are 3 isoforms of AKT, each performing slightly different functions. Here we study the most ubiquitous AKT isoform, Akt1, and its role at the organismal level in the central and vascular peripheral clocks. Akt1 -/- mice exhibit relatively normal behavioral rhythms with only minor differences in circadian gene expression in the liver and heart. However, circadian gene expression in the Akt1 -/- aorta, compared with control aorta, follows a distinct pattern. In the Akt1 -/- aorta, positive regulators of circadian transcription have lower amplitude rhythms and peak earlier in the day, and negative circadian regulators are expressed at higher amplitudes and peak later in the day. In endothelial cells, negative circadian regulators exhibit an increased amplitude of expression, while the positive circadian regulators are arrhythmic with a decreased amplitude of expression. This indicates that Akt1 conditions the normal circadian rhythm in the vasculature more so than in other peripheral tissues where other AKT isoforms or kinases might be important for daily rhythms.

Focus-on-form instructional methods promote deaf college students' improvement in English grammar.

PubMed

Berent, Gerald P; Kelly, Ronald R; Aldersley, Stephen; Schmitz, Kathryn L; Khalsa, Baldev Kaur; Panara, John; Keenan, Susan

2007-01-01

Focus-on-form English teaching methods are designed to facilitate second-language learners' noticing of target language input, where "noticing" is an acquisitional prerequisite for the comprehension, processing, and eventual integration of new grammatical knowledge. While primarily designed for teaching hearing second-language learners, many focus-on-form methods lend themselves to visual presentation. This article reports the results of classroom research on the visually based implementation of focus-on-form methods with deaf college students learning English. Two of 3 groups of deaf students received focus-on-form instruction during a 10-week remedial grammar course; a third control group received grammatical instruction that did not involve focus-on-form methods. The 2 experimental groups exhibited significantly greater improvement in English grammatical knowledge relative to the control group. These results validate the efficacy of visually based focus-on-form English instruction for deaf students of English and set the stage for the continual search for innovative and effective English teaching methodologies.

PubMed

de Quadros, Ronice Müller; Cruz, Carina Rebello; Pizzio, Aline Lemos

2012-01-01

This study compared the performance in phonological memory tasks of bimodal bilíngual hearing children (children of deaf parents) and deaf children with cochlear implant (children of deaf parents and hearing parents), with different contexts of access to Brazilian Sign Language (Libras). We used two tests: Portuguêse Pseudowords (Santos and Bueno, 2003) and Libras Pseudosigns (developed by researchers from Development Bimodal Bilíngual Project). Moreover, we included two control groups, one of deaf children, growing up with Libras, with deaf parents, and the other of hearing adults Codas, bimodal bilínguals, with deaf parents. In the analysis of the results, initially, in regard to the performance among the groups tested, it was found that the bimodal bilíngual children had higher scores in both tests. However, when we analyzed the performance of the deaf child with cochlear implant, with deaf parents, with full access to sign language, compared to the other children with cochlear implant, with restricted access to Libras, we found that this child has a similar performance to the Coda children. The cochlear-implanted children with restricted access to Libras, therefore with more access to Portuguêse, had lower scores in both tests, being the worst score for the Portuguêse test. The results shown that children with cochlear implant can have benefits when they have access to Libras, having similar performances to hearing bimodal bilíngual children.

The β subunit of yeast AMP-activated protein kinase directs substrate specificity in response to alkaline stress.

PubMed

Chandrashekarappa, Dakshayini G; McCartney, Rhonda R; O'Donnell, Allyson F; Schmidt, Martin C

2016-12-01

Saccharomyces cerevisiae express three isoforms of Snf1 kinase that differ by which β subunit is present, Gal83, Sip1 or Sip2. Here we investigate the abundance, activation, localization and signaling specificity of the three Snf1 isoforms. The relative abundance of these isoforms was assessed by quantitative immunoblotting using two different protein extraction methods and by fluorescence microscopy. The Gal83 containing isoform is the most abundant in all assays while the abundance of the Sip1 and Sip2 isoforms is typically underestimated especially in glass-bead extractions. Earlier studies to assess Snf1 isoform function utilized gene deletions as a means to inactivate specific isoforms. Here we use point mutations in Gal83 and Sip2 and a 17 amino acid C-terminal truncation of Sip1 to inactivate specific isoforms without affecting their abundance or association with the other subunits. The effect of low glucose and alkaline stresses was examined for two Snf1 phosphorylation substrates, the Mig1 and Mig2 proteins. Any of the three isoforms was capable of phosphorylating Mig1 in response to glucose stress. In contrast, the Gal83 isoform of Snf1 was both necessary and sufficient for the phosphorylation of the Mig2 protein in response to alkaline stress. Alkaline stress led to the activation of all three isoforms yet only the Gal83 isoform translocates to the nucleus and phosphorylates Mig2. Deletion of the SAK1 gene blocked nuclear translocation of Gal83 and signaling to Mig2. These data strongly support the idea that Snf1 signaling specificity is mediated by localization of the different Snf1 isoforms. Copyright © 2016 Elsevier Inc. All rights reserved.

The β subunit of yeast AMP-activated protein kinase directs substrate specificity in response to alkaline stress

PubMed Central

Chandrashekarappa, Dakshayini G.; McCartney, Rhonda R.; O’Donnell, Allyson F.; Schmidt, Martin C.

2016-01-01

Saccharomyces cerevisiae express three isoforms of Snf1 kinase that differ by which β subunit is present, Gal83, Sip1 or Sip2. Here we investigate the abundance, activation, localization and signaling specificity of the three Snf1 isoforms. The relative abundance of these isoforms was assessed by quantitative immunoblotting using two different protein extraction methods and by fluorescence microscopy. The Gal83 containing isoform is the most abundant in all assays while the abundance of the Sip1 and Sip2 isoforms is typically underestimated especially in glass-bead extractions. Earlier studies to assess Snf1 isoform function utilized gene deletions as a means to inactivate specific isoforms. Here we use point mutations in Gal83 and Sip2 and a 17 amino acid C-terminal truncation of Sip1 to inactivate specific isoforms without affecting their abundance or association with the other subunits. The effect of low glucose and alkaline stresses was examined for two Snf1 phosphorylation substrates, the Mig1 and Mig2 proteins. Any of the three isoforms was capable of phosphorylating Mig1 in response to glucose stress. In contrast, the Gal83 isoform of Snf 1 was both necessary and sufficient for the phosphorylation of the Mig2 protein in response to alkaline stress. Alkaline stress led to the activation of all three isoforms yet only the Gal83 isoform translocates to the nucleus and phosphorylates Mig2. Deletion of the SAK1 gene blocked nuclear translocation of Gal83 and signaling to Mig2. These data strongly support the idea that Snf1 signaling specificity is mediated by localization of the different Snf1 isoforms. PMID:27592031

Does a Flatter General Gradient of Visual Attention Explain Peripheral Advantages and Central Deficits in Deaf Adults?

PubMed Central

Samar, Vincent J.; Berger, Lauren

2017-01-01

Individuals deaf from early age often outperform hearing individuals in the visual periphery on attention-dependent dorsal stream tasks (e.g., spatial localization or movement detection), but sometimes show central visual attention deficits, usually on ventral stream object identification tasks. It has been proposed that early deafness adaptively redirects attentional resources from central to peripheral vision to monitor extrapersonal space in the absence of auditory cues, producing a more evenly distributed attention gradient across visual space. However, little direct evidence exists that peripheral advantages are functionally tied to central deficits, rather than determined by independent mechanisms, and previous studies using several attention tasks typically report peripheral advantages or central deficits, not both. To test the general altered attentional gradient proposal, we employed a novel divided attention paradigm that measured target localization performance along a gradient from parafoveal to peripheral locations, independent of concurrent central object identification performance in prelingually deaf and hearing groups who differed in access to auditory input. Deaf participants without cochlear implants (No-CI), with cochlear implants (CI), and hearing participants identified vehicles presented centrally, and concurrently reported the location of parafoveal (1.4°) and peripheral (13.3°) targets among distractors. No-CI participants but not CI participants showed a central identification accuracy deficit. However, all groups displayed equivalent target localization accuracy at peripheral and parafoveal locations and nearly parallel parafoveal-peripheral gradients. Furthermore, the No-CI group’s central identification deficit remained after statistically controlling peripheral performance; conversely, the parafoveal and peripheral group performance equivalencies remained after controlling central identification accuracy. These results suggest that, in the absence of auditory input, reduced central attentional capacity is not necessarily associated with enhanced peripheral attentional capacity or with flattening of a general attention gradient. Our findings converge with earlier studies suggesting that a general graded trade-off of attentional resources across the visual field does not adequately explain the complex task-dependent spatial distribution of deaf-hearing performance differences reported in the literature. Rather, growing evidence suggests that the spatial distribution of attention-mediated performance in deaf people is determined by sophisticated cross-modal plasticity mechanisms that recruit specific sensory and polymodal cortex to achieve specific compensatory processing goals. PMID:28559861

Glycerol-3-phosphate acyltransferase (GPAT)-1, but not GPAT4, incorporates newly synthesized fatty acids into triacylglycerol and diminishes fatty acid oxidation.

PubMed

Wendel, Angela A; Cooper, Daniel E; Ilkayeva, Olga R; Muoio, Deborah M; Coleman, Rosalind A

2013-09-20

Four glycerol-3-phosphate acyltransferase (GPAT) isoforms, each encoded by a separate gene, catalyze the initial step in glycerolipid synthesis; in liver, the major isoforms are GPAT1 and GPAT4. To determine whether each of these hepatic isoforms performs a unique function in the metabolism of fatty acid, we measured the incorporation of de novo synthesized fatty acid or exogenous fatty acid into complex lipids in primary mouse hepatocytes from control, Gpat1(-/-), and Gpat4(-/-) mice. Although hepatocytes from each genotype incorporated a similar amount of exogenous fatty acid into triacylglycerol (TAG), only control and Gpat4(-/-) hepatocytes were able to incorporate de novo synthesized fatty acid into TAG. When compared with controls, Gpat1(-/-) hepatocytes oxidized twice as much exogenous fatty acid. To confirm these findings and to assess hepatic β-oxidation metabolites, we measured acylcarnitines in liver from mice after a 24-h fast and after a 24-h fast followed by 48 h of refeeding with a high sucrose diet to promote lipogenesis. Confirming the in vitro findings, the hepatic content of long-chain acylcarnitine in fasted Gpat1(-/-) mice was 3-fold higher than in controls. When compared with control and Gpat4(-/-) mice, after the fasting-refeeding protocol, Gpat1(-/-) hepatic TAG was depleted, and long-chain acylcarnitine content was 3.5-fold higher. Taken together, these data demonstrate that GPAT1, but not GPAT4, is required to incorporate de novo synthesized fatty acids into TAG and to divert them away from oxidation.

Auditory Deprivation Does Not Impair Executive Function, But Language Deprivation Might: Evidence From a Parent-Report Measure in Deaf Native Signing Children

PubMed Central

Hall, Matthew L.; Eigsti, Inge-Marie; Bortfeld, Heather; Lillo-Martin, Diane

2017-01-01

Deaf children are often described as having difficulty with executive function (EF), often manifesting in behavioral problems. Some researchers view these problems as a consequence of auditory deprivation; however, the behavioral problems observed in previous studies may not be due to deafness but to some other factor, such as lack of early language exposure. Here, we distinguish these accounts by using the BRIEF EF parent report questionnaire to test for behavioral problems in a group of Deaf children from Deaf families, who have a history of auditory but not language deprivation. For these children, the auditory deprivation hypothesis predicts behavioral impairments; the language deprivation hypothesis predicts no group differences in behavioral control. Results indicated that scores among the Deaf native signers (n = 42) were age-appropriate and similar to scores among the typically developing hearing sample (n = 45). These findings are most consistent with the language deprivation hypothesis, and provide a foundation for continued research on outcomes of children with early exposure to sign language. PMID:27624307

The Contribution of Verbal Working Memory to Deaf Children’s Oral and Written Production

PubMed Central

Arfé, Barbara; Rossi, Cristina; Sicoli, Silvia

2015-01-01

This study investigated the contribution of verbal working memory to the oral and written story production of deaf children. Participants were 29 severely to profoundly deaf children aged 8–13 years and 29 hearing controls, matched for grade level. The children narrated a picture story orally and in writing and performed a reading comprehension test, the Wechsler Intelligence Scale for Children-Fourth Edition forward digit span task, and a reading span task. Oral and written stories were analyzed at the microstructural (i.e., clause) and macrostructural (discourse) levels. Hearing children’s stories scored higher than deaf children’s at both levels. Verbal working memory skills contributed to deaf children’s oral and written production over and above age and reading comprehension skills. Verbal rehearsal skills (forward digit span) contributed significantly to deaf children’s ability to organize oral and written stories at the microstructural level; they also accounted for unique variance at the macrostructural level in writing. Written story production appeared to involve greater verbal working memory resources than oral story production. PMID:25802319

PROCEEDINGS OF INTERNATIONAL CONFERENCE ON ORAL EDUCATION OF THE DEAF. VOLUME I. (WASHINGTON, D.C., NOVEMBER 1, 1967).

ERIC Educational Resources Information Center

Alexander Graham Bell Association for the Deaf, Inc., Washington, DC.

THE PROCEEDINGS OF THE INTERNATIONAL CONFERENCE ON ORAL EDUCATION OF THE DEAF ARE THE WRITTEN RECORD OF A CONFERENCE HELD AT CLARKE SCHOOL FOR THE DEAF AND LEXINGTON SCHOOL FOR THE DEAF IN JUNE 1967. VOLUME I CONTAINS THE PAPERS FROM FIVE PLENARY SESSIONS AND SEVERAL SECTIONAL MEETINGS PRESENTED BY REPRESENTATIVES FROM 16 COUNTRIES. SUBJECTS…

Metabolomic Discovery of Novel Urinary Galabiosylceramide Analogs as Fabry Disease Biomarkers

NASA Astrophysics Data System (ADS)

Boutin, Michel; Auray-Blais, Christiane

2015-03-01

Fabry disease is an X-linked, complex, multisystemic lysosomal storage disorder presenting marked phenotypic and genotypic variability among affected male and female patients. Glycosphingolipids, mainly globotriaosylceramide (Gb3) isoforms/analogs, globotriaosylsphingosine (lyso-Gb3) and analogs, as well as galabiosylceramide (Ga2) isoforms/analogs accumulate in the vascular endothelium, nerves, cardiomyocytes, renal glomerular and tubular epithelial cells, and biological fluids. The search for biomarkers reflecting disease severity and progression is still on-going. A metabolomic study using quadrupole time-of-flight mass spectrometry has revealed 22 galabiosylceramide isoforms/analogs in urine of untreated Fabry patients classified in seven groups according to their chemical structure: (1) Saturated fatty acid; (2) one extra double bond; (3) two extra double bonds; (4) hydroxylated saturated fatty acid; (5) hydroxylated fatty acid and one extra double bond; (6) hydrated sphingosine and hydroxylated fatty acid; (7) methylated amide linkage. Relative quantification of both Ga2 and Gb3 isoforms/analogs was performed. All these biomarkers are significantly more abundant in urine samples from untreated Fabry males compared with healthy male controls. A significant amount of Ga2 isoforms/analogs, accounting for 18% of all glycosphingolipids analyzed (Ga2 + Gb3 and respective isoforms/analogs), were present in urine of Fabry patients. Gb3 isoforms containing saturated fatty acids are the most abundant (60.9%) compared with 26.3% for Ga2. A comparison between Ga2 isoforms/analogs and their Gb3 counterparts also showed that the proportion of analogs with hydroxylated fatty acids is significantly greater for Ga2 (35.8%) compared with Gb3 (1.9%). These results suggest different biological pathways involved in the synthesis and/or degradation of Gb3 and Ga2 metabolites.

Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study

PubMed Central

Palmer, Christina G. S.; Boudreault, Patrick; Baldwin, Erin E.; Sinsheimer, Janet S.

2014-01-01

Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results. PMID:25375116

Regulation of acetylcholine receptor alpha subunit variants in human myasthenia gravis. Quantification of steady-state levels of messenger RNA in muscle biopsy using the polymerase chain reaction.

PubMed Central

Guyon, T; Levasseur, P; Truffault, F; Cottin, C; Gaud, C; Berrih-Aknin, S

1994-01-01

Myasthenia gravis (MG) is an autoimmune disease mediated by auto-antibodies that attack the nicotinic acetylcholine receptor (AChR). To elucidate the molecular mechanisms underlying the decrease in AChR levels at the neuromuscular junction, we investigated the regulation of AChR expression by analyzing mRNA of the two AChR alpha subunit isoforms (P3A+ and P3A-) in muscle samples from myasthenic patients relative to controls. We applied a quantitative method based on reverse transcription of total RNA followed by polymerase chain reaction (PCR), using an internal standard we constructed by site-directed mutagenesis. An increased expression of mRNA coding for the alpha subunit of the AChR isoforms was observed in severely affected patients (P < 0.003 versus controls) but not in moderately affected patients, independently of the anti-AChR antibody titer. Study of mRNA precursor levels indicates a higher expression in severely affected patients compared to controls, suggesting an enhanced rate of transcription of the message coding for the alpha subunit isoforms in these patients. We have also reported that mRNA encoding both isoforms are expressed at an approximate 1:1 ratio in controls and in patients. We have thus identified a new biological parameter correlated with disease severity, and provide evidence of a compensatory mechanism to balance the loss of AChR in human myasthenia gravis, which is probably triggered only above a certain degree of AChR loss. Images PMID:8040257

ISOFORM SPECIFIC REGULATION OF DIVALENT METAL (ION) TRANSPORTER (DMT1) BY PROTEASOMAL DEGRADATION

PubMed Central

Garrick, Michael D.; Zhao, Lin; Roth, Jerome A.; Jiang, Houbo; Feng, Jian; Foot, Natalie J.; Dalton, Hazel; Kumar, Sharad; Garrick, Laura M.

2012-01-01

DMT1 is the major transporter for iron entrance into mammalian cells and iron exit from endosomes during the transferrin cycle. Four major mRNA isoforms correspond to 4 protein isoforms, differing at 5'/3' and N-/C- termini, respectively. Isoforms are designated 1A vs. 1B reflecting where transcription starts or +IRE vs. −IRE reflecting the presence / absence of an iron responsive element in the 3' end of the mRNA. These differences imply regulation at transcriptional and posttranscriptional levels. Many proteins are degraded by a ubiquitination-dependent mechanism. Two different ubiquitin ligases (E3s) appear to be involved in DMT1 ubiquitination: Parkin or Nedd4 family E3s which often utilize Nedd4 family interacting protein-1 and -2 (Ndfip1 & 2) to ubiquitinate their substrate proteins. Prior data suggest that parkin ubiquitinates 1B DMT1 but not 1A DMT1 while Nedd4/Ndfips ligate ubiquitin to DMT1 in the duodenum where 1A/+IRE DMT1 predominates. Our assay for whether these systems target DMT1 depends on two HEK293 cell lines that express permanently transfected 1A/+IRE DMT1 or 1B/−IRE DMT1 after induction by doxycycline. Transient transfection with a parkin construct before induction diminishes 1B/−IRE DMT1 detected by immune-blots but not 1A/+IRE DMT1. Mutant parkin serves as a control that does not affect DMT1 levels. Thus DMT1 regulation in an isoform specific fashion can occur by ubiquitination and the events involved have implications for DMT1 function and disease processes. PMID:22310887

The contribution of phonological knowledge, memory, and language background to reading comprehension in deaf populations

PubMed Central

Hirshorn, Elizabeth A.; Dye, Matthew W. G.; Hauser, Peter; Supalla, Ted R.; Bavelier, Daphne

2015-01-01

While reading is challenging for many deaf individuals, some become proficient readers. Little is known about the component processes that support reading comprehension in these individuals. Speech-based phonological knowledge is one of the strongest predictors of reading comprehension in hearing individuals, yet its role in deaf readers is controversial. This could reflect the highly varied language backgrounds among deaf readers as well as the difficulty of disentangling the relative contribution of phonological versus orthographic knowledge of spoken language, in our case ‘English,’ in this population. Here we assessed the impact of language experience on reading comprehension in deaf readers by recruiting oral deaf individuals, who use spoken English as their primary mode of communication, and deaf native signers of American Sign Language. First, to address the contribution of spoken English phonological knowledge in deaf readers, we present novel tasks that evaluate phonological versus orthographic knowledge. Second, the impact of this knowledge, as well as memory measures that rely differentially on phonological (serial recall) and semantic (free recall) processing, on reading comprehension was evaluated. The best predictor of reading comprehension differed as a function of language experience, with free recall being a better predictor in deaf native signers than in oral deaf. In contrast, the measures of English phonological knowledge, independent of orthographic knowledge, best predicted reading comprehension in oral deaf individuals. These results suggest successful reading strategies differ across deaf readers as a function of their language experience, and highlight a possible alternative route to literacy in deaf native signers. Highlights: 1. Deaf individuals vary in their orthographic and phonological knowledge of English as a function of their language experience. 2. Reading comprehension was best predicted by different factors in oral deaf and deaf native signers. 3. Free recall memory (primacy effect) better predicted reading comprehension in deaf native signers as compared to oral deaf or hearing individuals. 4. Language experience should be taken into account when considering cognitive processes that mediate reading in deaf individuals. PMID:26379566

Impact of control of blood glucose level during treatment of sudden deafness in diabetics: relationship with prognosis.

PubMed

Min, Sang-Ki; Shin, Ji-Ho; Chang, Mun-Young; Min, Hyun-Jin; Kim, Kyung-Soo; Lee, Sei-Young; Yang, Hoon-Shik; Hong, Young-Ho; Mun, Seog-Kyun

2017-03-01

The objective of this study is to investigate the impact of control of blood glucose level during treatment of sudden deafness. A retrospective study was performed involving 197 patients from January, 2011 to September, 2015. All patients were administrated prednisolone (Pharmaprednisolone tab ® , 5 mg/T; KoreaPharma) p.o under the following regimen: 60 mg/day for 4 days, 40 mg/day for 2 days, 30 mg/day for 1 day, 20 mg/day for 1 day, and 10 mg/day for 2 days. During treatment, pure tone audiometry and blood glucose level were investigated for each patient and the results were statistically analyzed. Mean hearing improvement was 19.2 dB for the non-diabetes group and 24.8 dB for the diabetes group. The greater improvement for diabetics was not statistically significant (p = 0.146). Hearing improvement was 25.1 dB for subjects with mean blood glucose <200 mg/dl and 24.6 dB for subjects with mean blood glucose >200 mg/dl; the difference was not statistically significant (p = 0.267). Mean blood glucose level was 200.8 mg/dl for subjects with hearing improvement >20 dB and 181.8 mg/dl for subjects with hearing improvement <20 dB; the difference was not statistically significant (p = 0.286). Control of blood glucose level during treatment of sudden deafness does not have a direct effect on prognosis.

Science teachers in deaf education: A national survey of K-8 teachers

NASA Astrophysics Data System (ADS)

Shaw, Cynthia

A survey was conducted with 67 science teachers who taught deaf children at the elementary school level. Teacher background variables, information about teacher preparation and certification, preferred teaching methods, communication methodologies, curriculum, and the use of technology were gathered. A purposeful, convenience sampling technique was employed. Utilizing a non-experimental, basic research design and survey methodology, the researcher reviewed both quantitative and qualitative data. The majority of science teachers in this survey at the elementary school level are female and hearing. More than half have deaf education masters degrees. Few have science degrees. The majority of teachers had less than 10 years teaching experience with deaf students. Sixty percent were highly qualified in science; only forty percent were certified in science. They were equally employed at either a state residential school or a public day school. Two-way chi-square analyses were carried out. Hearing teachers preferred to observe other teachers teaching science compared to deaf teachers chi2 (1, N = 67) = 5.39, p < .05, deaf teachers were more familiar than hearing teachers with the ASL/English Bilingual Star School program (chi2 (1, N = 67) = 8.49, p < .01). Deaf teachers participated more in the Star Schools training compared to hearing teachers (chi2 (1, N = 67) = 14.15, p < .001). Deaf teachers compared to hearing teachers were more likely to use the bilingual strategy, translanguaging than hearing teachers (chi2 (1, N = 67) = 4.54, p < .05). Hearing teachers used the computer more often in the classroom than deaf teachers (chi 2 (1, N = 67) = 4.65, p < .01). Hearing teachers had their students use the computer more regularly than deaf teachers (chi2 (1, N = 67) = 11.49, p < .01). Teachers who worked in residential schools compared to working in public schools attended more state department of education science workshops chi2 (1, N = 67) = 6.83, p < .01, attended national or state science meetings chi2 (1, N = 67) = 7.96, p < .01, were familiar with the Star Schools program chi2 (1, N=67) = 13.23, p < .01, and participated more in Star Schools programs chi 2 (1, N = 67) = 15.96, p < .01. Compared to hearing teachers, the deaf teachers used web-based science materials (chi2 (1, N = 67) = 4.65, p < .01), used codeswitching chi2 (1, N = 67) = 10.78, p < .001, used concurrent translation chi2 (1, N = 67) = 11.30, p. < .001, used the Cummins BICS model chi 2 (1, N = 67) = 5.71, p < .01, and used problem based learning chi 2 (1, N = 67) = 4.14, p < .01. Survey response revealed that science teachers in the elementary school lacked training in science, used technology infrequently and did not have access to in-service science workshops. Recommendations are made to provide higher quality science preparation at the pre-service and in-service levels. More research was also suggested to investigate the use of bilingual strategies in the teaching of science as many of the deaf teachers reported they used these strategies often.

Increased neuronal beta-amyloid precursor protein expression in human temporal lobe epilepsy: association with interleukin-1 alpha immunoreactivity.

PubMed

Sheng, J G; Boop, F A; Mrak, R E; Griffin, W S

1994-11-01

Levels of immunoreactive beta-amyloid precursor protein and interleukin-1 alpha were found to be elevated in surgically resected human temporal lobe tissue from patients with intractable epilepsy compared with postmortem tissue from neurologically unaffected patients (controls). In tissue from epileptics, the levels of the 135-kDa beta-amyloid precursor protein isoform were elevated to fourfold (p < 0.05) those of controls and those of the 130-kDa isoform to threefold (p < 0.05), whereas those of the 120-kDa isoform (p > 0.05) were not different from control values. beta-Amyloid precursor protein-immunoreactive neurons were 16 times more numerous, and their cytoplasm and proximal processes were more intensely immunoreactive in tissue sections from epileptics than controls (133 +/- 12 vs. 8 +/- 3/mm2; p < 0.001). However, neither beta-amyloid precursor protein-immunoreactive dystrophic neurites nor beta-amyloid deposits were found in this tissue. Interleukin-1 alpha-immunoreactive cells (microglia) were three times more numerous in epileptics than in controls (80 +/- 8 vs. 25 +/- 5/mm2; p < 0.001), and these cells were often found adjacent to beta-amyloid precursor protein-immunoreactive neuronal cell bodies. Our findings, together with functions established in vitro for interleukin-1, suggest that increased expression of this protein contributes to the increased levels of beta-amyloid precursor protein in epileptics, thus indicating a potential role for both of these proteins in the neuronal dysfunctions, e.g., hyperexcitability, characteristic of epilepsy.

The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria.

PubMed

Parzefall, Thomas; Lucas, Trevor; Koenighofer, Martin; Ramsebner, Reinhard; Frohne, Alexandra; Czeiger, Shelly; Baumgartner, Wolf-Dieter; Schoefer, Christian; Gstoettner, Wolfgang; Frei, Klemens

2017-04-01

Alterations within a novel putative Exon 1a within the gap junction beta 2 (GJB2) gene may play a role in the development of genetic hearing impairment in Austria. Mutations in the GJB2 gene are the most common cause of hereditary sensorineural deafness. Genome-wide screening for alternative transcriptional start sites in the human genome has revealed the presence of an additional GJB2 exon (E1a). This study tested the hypothesis of whether alternative GJB2 transcription involving E1a may play a role in the development of congenital sensorineural deafness in Austria. GJB2 E1a and flanking regions were sequenced in randomized normal hearing control subjects and three different patient groups with non-syndromic hearing impairment (NSHI), and bioinformatic analysis was performed. Statistical analysis of disease association was carried out using the Cochran-Armitage test for trend. A single change 2410 bp proximal to the translational start site (c.-2410T > C, rs7994748, NM_004004.5:c.-23 + 792T > C) was found to be significantly associated with the common c.35delG GJB2 mutation (p = .009). c.35delG in combination with c.-2410CC occurred at a 6.9-fold increased frequency compared to the control group. Additionally, one patient with idiopathic congenital hearing loss was found to be homozygous c.-2410CC.

Deafness, Thought-Bubbles and Theory of Mind Development

PubMed Central

Wellman, Henry M.; Peterson, Candida C.

2013-01-01

The processes and mechanisms of theory of mind development were examined via a training study of false belief conceptions in deaf children of hearing parents (N = 43). In comparison to two different control conditions, training based on thought-bubble instruction about beliefs was linked with improved false belief understanding as well as progress on a broader theory-of-mind scale. By combining intervention, microgenetic, and developmental-scaling methods the findings provide informative data about the nature and mechanisms of theory-of-mind change in deaf children, as well as an initial demonstration of a useful intervention for enhancing social cognition in deaf children of hearing parents. The methods and results also point to possible avenues for the study of conceptual change more generally. PMID:23544856

Human SLP-65 isoforms contribute differently to activation and apoptosis of B lymphocytes.

PubMed

Grabbe, Annika; Wienands, Jürgen

2006-12-01

The SH2 domain-containing leukocyte adaptor protein of 65 kDa (SLP-65) is the key effector for signaling downstream of the B-cell antigen receptor (BCR). SLP-65 controls not only B lymphopoiesis and humoral immunity but also possesses a yet poorly defined tumor suppressor activity that is lost in many cases of acute lymphoblastic leukemia. We found that the 2 isoforms of human SLP-65 are differentially involved in positive and negative B-cell signaling. Reconstitution experiments revealed that an atypical SH3 domain-binding motif, which is present in the long but not in the short SLP-65 isoform, mediates association to Grb2 and suppresses activation of mitogen-activated protein kinases p38 and JNK as well as up-regulation of c-Fos expression. In turn, the short isoform activates not only AP1-driven but also NF-kappaB-driven gene transcription more potently than the long isoform. Conversely, the long rather than the short SLP-65 isoform promotes BCR-induced B-cell apoptosis. Our data further delineate the structural requirements of positive and negative SLP-65 signal transduction in normal and neoplastic cells.

The Plasma Membrane Calcium ATPases and Their Role as Major New Players in Human Disease.

PubMed

Stafford, Nicholas; Wilson, Claire; Oceandy, Delvac; Neyses, Ludwig; Cartwright, Elizabeth J

2017-07-01

The Ca 2+ extrusion function of the four mammalian isoforms of the plasma membrane calcium ATPases (PMCAs) is well established. There is also ever-increasing detail known of their roles in global and local Ca 2+ homeostasis and intracellular Ca 2+ signaling in a wide variety of cell types and tissues. It is becoming clear that the spatiotemporal patterns of expression of the PMCAs and the fact that their abundances and relative expression levels vary from cell type to cell type both reflect and impact on their specific functions in these cells. Over recent years it has become increasingly apparent that these genes have potentially significant roles in human health and disease, with PMCAs1-4 being associated with cardiovascular diseases, deafness, autism, ataxia, adenoma, and malarial resistance. This review will bring together evidence of the variety of tissue-specific functions of PMCAs and will highlight the roles these genes play in regulating normal physiological functions and the considerable impact the genes have on human disease. Copyright © 2017 the American Physiological Society.

Alterations of grey matter asymmetries in adolescents with prelingual deafness: a combined VBM and cortical thickness analysis.

PubMed

Li, Wenjing; Li, Jianhong; Xian, Junfang; Lv, Bin; Li, Meng; Wang, Chunheng; Li, Yong; Liu, Zhaohui; Liu, Sha; Wang, Zhenchang; He, Huiguang; Sabel, Bernhard A

2013-01-01

Prelingual deafness has been shown to lead to brain reorganization as demonstrated by functional parameters, but anatomical evidences still remain controversial. The present study investigated hemispheric asymmetry changes in deaf subjects using MRI, hypothesizing auditory-, language- or visual-related regions after early deafness. Prelingually deaf adolescents (n = 16) and age- and gender-matched normal controls (n = 16) were recruited and hemispheric asymmetry was evaluated with voxel-based morphometry (VBM) from MRI combined with analysis of cortical thickness (CTh). Deaf adolescents showed more rightward asymmetries (L < R) of grey matter volume (GMV) in the cerebellum and more leftward CTh asymmetries (L > R) in the posterior cingulate gyrus and gyrus rectus. More rightward CTh asymmetries were observed in the precuneus, middle and superior frontal gyri, and middle occipital gyrus. The duration of hearing aid use was correlated with asymmetry of GMV in the cerebellum and CTh in the gyrus rectus. Interestingly, the asymmetry of the auditory cortex was preserved in deaf subjects. When the brain is deprived of auditory input early in life there are signs of both irreversible morphological asymmetry changes in different brain regions but also signs of reorganization and plasticity which are dependent on hearing aid use, i.e. use-dependent.

The Effect of Social Skills Training on Perceived Competence of Female Adolescents with Deafness

PubMed Central

Soleimanieh Naeini, Tahereh; Keshavarzi Arshadi, Farnaz; Hatamizadeh, Nikta; Bakhshi, Enayatollah

2013-01-01

Background Although there are considerable researches on effectiveness of social skills training, little information is available on the effects of such training on perceived competence of adolescents with deafness. Objectives This study was conducted in special school settings to determine the effects of social skills training on perceived competence of female adolescents with deafness. Patients and Methods A prepost quasi-experimental design was used to perform the study. Sixty nine female students with deafness who were enrolled in all of the four different special secondary schools in Tehran, Iran, between 2010 and 2011 participated in this research. Two of four secondary schools were randomly allocated to the intervention group (33 students), and the other two to the control group (36 students). The participants were between 11 and 21 years (Mean = 15.43; SD = 1.89), and more than three fourth of each groups ( i.e. 28 students in each groups) were affected by profound hearing impairment . The intervention group participated in twelve bi-weekly sessions. Pretest and posttest data were collected using the ‘Hearing Impaired Children Self-Image Test’. The questionnaire was filled by an interviewer. This questionnaire asks students about their feeling toward their own competence in domains of cognitive, physical, socio-emotional and communication competence and school adjustment. The data was analyzed by using SPSS software, version 16. Results The intervention led to significant improvement in total perceived competence scores of adolescents with deafness (P < 0.001) as well as in three domains of socio-emotional competence (P = 0.003), communication competence (P < 0.001), and school adjustment (P = 0.018). Conclusions It is likely that learning social skills in adolescents with deafness would improve their sense of competence, and emotional well being. PMID:24693408

One isoform of Arg/Abl2 tyrosine kinase is nuclear and the other seven cytosolic isoforms differently modulate cell morphology, motility and the cytoskeleton

DOE Office of Scientific and Technical Information (OSTI.GOV)

Bianchi, Cristina; Torsello, Barbara; Di Stefano, Vitalba

The non-receptor tyrosine kinase Abelson related gene (Arg/Abl2) regulates cell migration and morphogenesis by modulating the cytoskeleton. Arg promotes actin-based cell protrusions and spreading, and inhibits cell migration by attenuating stress fiber formation and contractility via activation of the RhoA inhibitor, p190RhoGAP, and by regulating focal adhesion dynamics also via CrkII phosphorylation. Eight full-length Arg isoforms with different N- and C-termini are endogenously expressed in human cells. In this paper, the eight Arg isoforms, subcloned in the pFLAG-CMV2 vector, were transfected in COS-7 cells in order to study their subcellular distribution and role in cell morphology, migration and cytoskeletal modulation.more » The transfected 1BSCTS Arg isoform has a nuclear distribution and phosphorylates CrkII in the nucleus, whilst the other isoforms are detected in the cytoplasm. The 1BLCTL, 1BSCTL, 1ASCTS isoforms were able to significantly decrease stress fibers, induce cell shrinkage and filopodia-like protrusions with a significant increase in p190RhoGAP phosphorylation. In contrast, 1ALCTL, 1ALCTS, 1ASCTL and 1BLCTS isoforms do not significantly decrease stress fibers and induce the formation of retraction tail-like protrusions. The 1BLCTL and 1ALCTL isoforms have different effects on cell migration and focal adhesions. All these data may open new perspectives to study the mechanisms of cell invasiveness. -Highlights: • Each of the eight Arg isoforms was transfected in COS-7 cells. • Only the 1BSCTS Arg isoform has a nuclear distribution in transfected cells. • The cytoplasmic isoforms and F-actin colocalize cortically and in cell protrusions. • Arg isoforms differently phosphorylate p190RhoGAP and CrkII. • Arg isoforms differently modulate stress fibers, cell protrusions and motility.« less

Telling the Story of Theory of Mind: Deaf and Hearing Children's Narratives and Mental State Understanding

ERIC Educational Resources Information Center

Peterson, Candida C.; Slaughter, Virginia P.

2006-01-01

Theory of mind (ToM) was examined in late-signing deaf children in two studies by using standard tests and measures of spontaneous talk about inner states of perception, affect and cognition during storytelling. In Study 1, there were 21 deaf children aged 6 to 11 years and 13 typical-hearing children matched with the deaf by chronological age. In…

INTERPRETING FOR DEAF PEOPLE, A REPORT OF A WORKSHOP ON INTERPRETING (GOVERNOR BAXTER STATE SCHOOL FOR THE DEAF, PORTLAND, MAINE, JULY 7-27, 1965).

ERIC Educational Resources Information Center

QUIGLEY, STEPHEN P.; YOUNGS, JOSEPH P.

THIS MANUAL, A RESULT OF THE WORKSHOP ON INTERPRETING FOR THE DEAF WHICH WAS HELD AT THE GOVERNOR BAXTER STATE SCHOOL FOR THE DEAF IN MAINE, JULY, 1965, IS DESIGNED TO (1) DEFINE INTERPRETING PROBLEMS AND PROCEDURES, (2) PROVIDE CURRICULUM GUIDELINES, AND (3) PROVIDE INFORMATION FOR INSTRUCTORS AND STUDENTS IN CLASSES ON INTERPRETING. THE…

Potentials of Rubella Deaf-Blind Children.

ERIC Educational Resources Information Center

Smith, Benjamin F.

Potentials of three classifications of rubella deaf blind children are discussed. Potentials for children at the middle trainable level and below are discussed for the areas of communication skills, daily living skills, mobility and orientation, vocational effort, and self-control and social interaction. For children in the upper trainable through…

Motor Proficiency Traits of Deaf Children.

ERIC Educational Resources Information Center

Brunt, Denis; Broadhead, Geoffrey D.

1982-01-01

Children at the Louisiana State School for the Deaf were tested for motor proficiency using the Short Form of the Bruininks-Oseretsky Test of Motor Proficiency. The children appeared to lack balancing skills but scored better than hearing children in visual motor control. Sex and age differences are noted. (PP)

Social Maturity and Executive Function Among Deaf Learners

PubMed Central

Marschark, Marc; Kronenberger, William G.; Rosica, Mark; Borgna, Georgianna; Convertino, Carol; Durkin, Andreana; Machmer, Elizabeth; Schmitz, Kathryn L.

2017-01-01

Two experiments examined relations among social maturity, executive function, language, and cochlear implant (CI) use among deaf high school and college students. Experiment 1 revealed no differences between deaf CI users, deaf nonusers, and hearing college students in measures of social maturity. However, deaf students (both CI users and nonusers) reported significantly greater executive function (EF) difficulties in several domains, and EF was related to social maturity. Experiment 2 found that deaf CI users and nonusers in high school did not differ from each other in social maturity or EF, but individuals who relied on sign language reported significantly more immature behaviors than deaf peers who used spoken language. EF difficulties again were associated with social maturity. The present results indicate that EF and social maturity are interrelated, but those relations vary in different deaf subpopulations. As with academic achievement, CI use appears to have little long-term impact on EF or social maturity. Results are discussed in terms of their convergence with findings related to incidental learning and functioning in several domains. PMID:27686092

``I Have Been Given the Power to Teach. The Children Understand Me Very Well.'' The Social and Academic Impact of Deaf Teacher Training in Kenya

NASA Astrophysics Data System (ADS)

Johnstone, Christopher; Corce, Heidi

2010-02-01

Kenya has 41 Deaf schools that serve children from Class 1 through secondary school. These schools are all characterised by the fact that they have very few teachers who are fluent in Kenyan sign language. In order to meet the needs of schools and to provide employment opportunities for Deaf Kenyan adults, a small non-governmental organisation identified Deaf secondary school students for training. They received two years of teacher training free of charge. Most have since been awarded teaching contracts by the Kenyan Teacher Service Commission or local school boards. This article reports on results from a preliminary study of the social and academic impacts of this innovation. Results indicate that Deaf teachers are inspirational in the classroom, represent a significant resource for their school communities and are preferred by Deaf students. A follow-up study on the relative learning gains of Deaf students when taught by Deaf teachers is planned once relevant data are available.

1. Photocopy of drawing (from newspaper clipping entitled 'Iowa State ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

1. Photocopy of drawing (from newspaper clipping entitled 'Iowa State Institution for the Education of the Deaf and Dumb,' located at Council Bluffs Free Library in scrapbook catalogued 'Iowa -- Deaf, School for the') Artist unknown approximately 1868-1887 MAIN FACADE - Iowa Institute for Education of the Deaf & Dumb, South Avenue & State Route 92 Vicinity, Council Bluffs, Pottawattamie County, IA

Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.

PubMed

Amritkumar, Pavithra; Jeffrey, Justin Margret; Chandru, Jayasankaran; Vanniya S, Paridhy; Kalaimathi, M; Ramakrishnan, Rajagopalan; Karthikeyen, N P; Srikumari Srisailapathy, C R

2018-06-19

DFNB1, the first locus to have been associated with deafness, has two major genes GJB2 & GJB6, whose mutations have played vital role in hearing impairment across many ethnicities in the world. In our present study we have focused on the role of these mutations in assortative mating hearing impaired families from south India. One hundred and six assortatively mating hearing impaired (HI) families of south Indian origin comprising of two subsets: 60 deaf marrying deaf (DXD) families and 46 deaf marrying normal hearing (DXN) families were recruited for this study. In the 60 DXD families, 335 members comprising of 118 HI mates, 63 other HI members and 154 normal hearing members and in the 46 DXN families, 281 members comprising of 46 HI and their 43 normal hearing partners, 50 other HI members and 142 normal hearing family members, participated in the molecular study. One hundred and sixty five (165) healthy normal hearing volunteers were recruited as controls for this study. All the participating members were screened for variants in GJB2 and GJB6 genes and the outcome of gene mutations were compared in the subsequent generation in begetting deaf offspring. The DFNB1 allele frequencies for DXD mates and their offspring were 36.98 and 38.67%, respectively and for the DXN mates and their offspring were 22.84 and 24.38%, respectively. There was a 4.6% increase in the subsequent generation in the DXD families, while a 6.75% increase in the DXN families, which demonstrates the role of assortative mating along with consanguinity in the increase of DFNB1 mutations in consecutive generations. Four novel variants, p.E42D (in GJB2 gene), p.Q57R, p.E101Q, p.R104H (in GJB6 gene) were also identified in this study. This is the first study from an Indian subcontinent reporting novel variants in the coding region of GJB6 gene. This is perhaps the first study in the world to test real-time, the hypothesis proposed by Nance et al. in 2000 (intense phenotypic assortative mating mechanism can double the frequency of the commonest forms of recessive deafness [DFNB1]) in assortative mating HI parental generation and their offspring.

Comparative Study of Motor Performance of Deaf and Hard of Hearing Students in Reaction Time, Visual-Motor Control and Upper Limb Speed and Dexterity Abilities

ERIC Educational Resources Information Center

Gkouvatzi, Anastasia N.; Mantis, Konstantinos; Kambas, Antonis

2010-01-01

Using the Bruininks-Oseretsky Test the motor performance of 34 deaf--hard-of-hearing pupils, 6-14 year, was evaluated in reaction time, visual-motor control and upper limb speed and dexterity. The two-way ANOVA variance analysis for two independent variables, group, age, and the Post Hoc (Scheffe test) for multiple comparisons were used. The…

Collaboration With Deaf Communities to Conduct Accessible Health Surveillance.

PubMed

Barnett, Steven L; Matthews, Kelly A; Sutter, Erika J; DeWindt, Lori A; Pransky, Jacqueline A; O'Hearn, Amanda M; David, Tamala M; Pollard, Robert Q; Samar, Vincent J; Pearson, Thomas A

2017-03-01

Populations of deaf sign language users experience health disparities unmeasured by current public health surveillance. Population-specific health data are necessary to collaboratively identify health priorities and evaluate interventions. Standardized, reproducible, and language-concordant data collection in sign language is impossible via written or telephone surveys. Deaf and hearing researchers, community members, and other stakeholders developed a broad computer-based health survey based on the telephone-administered Behavioral Risk Factor Surveillance System. They translated survey items from English to sign language, evaluated the translations, and filmed the survey items for inclusion in their custom software. They initiated the second Rochester Deaf Health Survey in 2013 (n=211). Analyses (conducted in 2015) compared Rochester Deaf Health Survey 2013 findings with those of the Behavioral Risk Factor Surveillance System with the general adult population in the same community (2012, n=1,816). The Rochester Deaf Health Survey 2013 participants' mean age was 44.7 (range, 18-87) years. Most were deaf since birth or early childhood (87.1%) and highly educated (53.6% with ≥4 years of college). The median household income was <$35,000. The prevalence of current smokers was low (8.1%). Nearly all (93.8%) reported having health insurance, yet barriers to appropriate health care were evident, with high emergency department use (16.2% with two or more past-year visits) and 22.7% forgoing needed health care in the past year because of cost. Community-engaged research with deaf populations identifies strengths and priorities, providing essential information otherwise missing from existing public health surveillance, and forming a foundation for collaborative dissemination to facilitate broader inclusion of deaf communities. Copyright © 2016 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.

Disordered communication and grieving in deaf member families.

PubMed

Sloman, L; Springer, S; Vachon, M L

1993-06-01

When a deaf child is born to hearing parents, a grieving process is initiated in the parents. Unresolved grieving over their child's deafness often makes it difficult for hearing parents to accept the importance of signing, thus increasing the child's problems--a further source of grief for these parents. Clinical illustrations are provided of (1) the reciprocal relationship between disruption of the mourning process and disturbance of communication between family members, and (2) the transmission of the dysfunctional relationship between hearing parents and deaf children to the subsequent relationship between the deaf children, when they reach adulthood, and their hearing children.

Glutamate transporter activity promotes enhanced Na+/K+‐ATPase‐mediated extracellular K+ management during neuronal activity

PubMed Central

Larsen, Brian Roland; Holm, Rikke; Vilsen, Bente

2016-01-01

Key points Management of glutamate and K+ in brain extracellular space is of critical importance to neuronal function.The astrocytic α2β2 Na+/K+‐ATPase isoform combination is activated by the K+ transients occurring during neuronal activity.In the present study, we report that glutamate transporter‐mediated astrocytic Na+ transients stimulate the Na+/K+‐ATPase and thus the clearance of extracellular K+.Specifically, the astrocytic α2β1 Na+/K+‐ATPase subunit combination displays an apparent Na+ affinity primed to react to physiological changes in intracellular Na+.Accordingly, we demonstrate a distinct physiological role in K+ management for each of the two astrocytic Na+/K+‐ATPase β‐subunits. Abstract Neuronal activity is associated with transient [K+]o increases. The excess K+ is cleared by surrounding astrocytes, partly by the Na+/K+‐ATPase of which several subunit isoform combinations exist. The astrocytic Na+/K+‐ATPase α2β2 isoform constellation responds directly to increased [K+]o but, in addition, Na+/K+‐ATPase‐mediated K+ clearance could be governed by astrocytic [Na+]i. During most neuronal activity, glutamate is released in the synaptic cleft and is re‐absorbed by astrocytic Na+‐coupled glutamate transporters, thereby elevating [Na+]i. It thus remains unresolved whether the different Na+/K+‐ATPase isoforms are controlled by [K+]o or [Na+]i during neuronal activity. Hippocampal slice recordings of stimulus‐induced [K+]o transients with ion‐sensitive microelectrodes revealed reduced Na+/K+‐ATPase‐mediated K+ management upon parallel inhibition of the glutamate transporter. The apparent intracellular Na+ affinity of isoform constellations involving the astrocytic β2 has remained elusive as a result of inherent expression of β1 in most cell systems, as well as technical challenges involved in measuring intracellular affinity in intact cells. We therefore expressed the different astrocytic isoform constellations in Xenopus oocytes and determined their apparent Na+ affinity in intact oocytes and isolated membranes. The Na+/K+‐ATPase was not fully saturated at basal astrocytic [Na+]i, irrespective of isoform constellation, although the β1 subunit conferred lower apparent Na+ affinity to the α1 and α2 isoforms than the β2 isoform. In summary, enhanced astrocytic Na+/K+‐ATPase‐dependent K+ clearance was obtained with parallel glutamate transport activity. The astrocytic Na+/K+‐ATPase isoform constellation α2β1 appeared to be specifically geared to respond to the [Na+]i transients associated with activity‐induced glutamate transporter activity. PMID:27231201

Responding to the deaf in disasters: establishing the need for systematic training for state-level emergency management agencies and community organizations.

PubMed

Engelman, Alina; Ivey, Susan L; Tseng, Winston; Dahrouge, Donna; Brune, Jim; Neuhauser, Linda

2013-03-07

Deaf and hard-of-hearing (Deaf/HH) individuals have been underserved before and during emergencies. This paper will assess Deaf/HH related emergency preparedness training needs for state emergency management agencies and deaf-serving community-based organizations (CBOs). Four approaches were used: 1) a literature review; 2) results from 50 key informant (KI) interviews from state and territorial-level emergency management and public health agencies; 3) results from 14 KI interviews with deaf-serving CBOs in the San Francisco Bay Area; and 4) a pilot program evaluation of an emergency responder training serving the Deaf/HH in one urban community. Results from literature review and state and territorial level KIs indicate that there is a substantive gap in emergency preparedness training on serving Deaf/HH provided by state agencies. In addition, local KI interviews with 14 deaf-serving CBOs found gaps in training within deaf-serving CBOs. These gaps have implications for preparing for and responding to all-hazards emergencies including weather-related or earthquake-related natural disasters, terrorist attacks, and nuclear-chemical disasters. Emergency preparedness trainings specific to responding to or promoting preparedness of the Deaf/HH is rare, even for state agency personnel, and frequently lack standardization, evaluation, or institutionalization in emergency management infrastructure. This has significant policy and research implications. Similarly, CBOs are not adequately trained to serve the needs of their constituents.

Redox-Dependent HMGB1 Isoforms as Pivotal Co-Ordinators of Drug-Induced Liver Injury: Mechanistic Biomarkers and Therapeutic Targets.

PubMed

Lea, Jonathan D; Clarke, Joanna I; McGuire, Niamh; Antoine, Daniel J

2016-04-20

High-mobility group box 1 (HMGB1) is a critical protein in the coordination of the inflammatory response in drug-induced liver injury (DILI). HMGB1 is released from necrotic hepatocytes and activated immune cells. The extracellular function of HMGB1 is dependent upon redox modification of cysteine residues that control chemoattractant and cytokine-inducing properties. Existing biomarkers of DILI such as alanine aminotransferase (ALT) have limitations such as lack of sensitivity and tissue specificity that can adversely affect clinical intervention. HMGB1 isoforms have been shown to be more sensitive biomarkers than ALT for predicting DILI development and the requirement for liver transplant following acetaminophen (APAP) overdose. Hepatocyte-specific conditional knockout of HMGB1 has demonstrated the pivotal role of HMGB1 in DILI and liver disease. Tandem mass spectrometry (MS/MS) enables the characterization and quantification of different mechanism-dependent post-translationally modified isoforms of HMGB1. HMGB1 shows great promise as a biomarker of DILI. However, current diagnostic assays are either too time-consuming to be clinically applicable (MS/MS) or are unable to distinguish between different redox and acetyl isoforms of HMGB1 (ELISA). Additionally, HMGB1 is not liver specific, so while it outperforms ALT (also not liver specific) as a biomarker for the prediction of DILI development, it should be used in a biomarker panel along with liver-specific markers such as miR-122. A point-of-care test for HMGB1 and the development of redox and acetyl isoform-targeting antibodies will advance clinical utility. Work is ongoing to validate baseline levels of circulating HMGB1 in healthy volunteers.

Deaf-Blind Perspectives, 2000-2001.

ERIC Educational Resources Information Center

Malloy, Peggy, Ed.

2001-01-01

These three issues of "Deaf-Blind Perspectives" feature the following articles: (1) "A Group for Students with Usher Syndrome in South Louisiana" (Faye Melancon); (2) "Simply Emily," which discusses a budding friendship between a girl with deaf-blindness and a peer; (3) "Intervener Update" (Peggy Malloy and…

Deafness and Hearing Loss.

ERIC Educational Resources Information Center

National Information Center for Children and Youth with Disabilities, Washington, DC.

This brief overview provides information on the definition, incidence, and characteristics of children with hearing impairments and deafness. The federal definitions of hearing impairment and deafness are provided. The different types of hearing loss are noted, including: (1) conductive (caused by diseases or obstructions in the outer or middle…

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

PubMed

Riahi, Zied; Bonnet, Crystel; Zainine, Rim; Lahbib, Saida; Bouyacoub, Yosra; Bechraoui, Rym; Marrakchi, Jihène; Hardelin, Jean-Pierre; Louha, Malek; Largueche, Leila; Ben Yahia, Salim; Kheirallah, Moncef; Elmatri, Leila; Besbes, Ghazi; Abdelhak, Sonia; Petit, Christine

2015-01-01

Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunction, and a prepubertal onset of retinitis pigmentosa. We performed whole exome sequencing in four unrelated Tunisian patients affected by apparently isolated, congenital profound deafness, with reportedly normal ocular fundus examination. Four biallelic mutations were identified in two USH1 genes: a splice acceptor site mutation, c.2283-1G>T, and a novel missense mutation, c.5434G>A (p.Glu1812Lys), in MYO7A, and two previously unreported mutations in USH1G, i.e. a frameshift mutation, c.1195_1196delAG (p.Leu399Alafs*24), and a nonsense mutation, c.52A>T (p.Lys18*). Another ophthalmological examination including optical coherence tomography actually showed the presence of retinitis pigmentosa in all the patients. Our findings provide evidence that USH is under-diagnosed in Tunisian deaf patients. Yet, early diagnosis of USH is of utmost importance because these patients should undergo cochlear implant surgery in early childhood, in anticipation of the visual loss.

OCA-B regulation of B-cell development and function.

PubMed

Teitell, Michael A

2003-10-01

The transcriptional co-activator OCA-B [for Oct co-activator from B cells, also known as OBF-1 (OCT-binding factor-1) and Bob1] is not required for B-cell genesis but does regulate subsequent B-cell development and function. OCA-B deficient mice show strain-specific, partial blocks at multiple stages of B-cell maturation and a complete disruption of germinal center formation in all strains, causing humoral immune deficiency and susceptibility to infection. OCA-B probably exerts its effects through the regulation of octamer-motif controlled gene expression. The OCA-B gene encodes two proteins of distinct molecular weight, designated p34 and p35. The p34 isoform localizes in the nucleus, whereas the p35 isoform is myristoylated and is bound to the cytoplasmic membrane. p35 can traffic to the nucleus and probably activates octamer-dependent transcription, although this OCA-B isoform might regulate B cells through membrane-related signal transduction.

Similar digit-based working memory in deaf signers and hearing non-signers despite digit span differences

PubMed Central

Andin, Josefine; Orfanidou, Eleni; Cardin, Velia; Holmer, Emil; Capek, Cheryl M.; Woll, Bencie; Rönnberg, Jerker; Rudner, Mary

2013-01-01

Similar working memory (WM) for lexical items has been demonstrated for signers and non-signers while short-term memory (STM) is regularly poorer in deaf than hearing individuals. In the present study, we investigated digit-based WM and STM in Swedish and British deaf signers and hearing non-signers. To maintain good experimental control we used printed stimuli throughout and held response mode constant across groups. We showed that deaf signers have similar digit-based WM performance, despite shorter digit spans, compared to well-matched hearing non-signers. We found no difference between signers and non-signers on STM span for letters chosen to minimize phonological similarity or in the effects of recall direction. This set of findings indicates that similar WM for signers and non-signers can be generalized from lexical items to digits and suggests that poorer STM in deaf signers compared to hearing non-signers may be due to differences in phonological similarity across the language modalities of sign and speech. PMID:24379797

Tone-deafness – a new disconnection syndrome?

PubMed Central

Loui, Psyche; Alsop, David; Schlaug, Gottfried

2009-01-01

Communicating with one’s environment requires efficient neural interaction between action and perception. Neural substrates ofsound perception and production are connected by the arcuate fasciculus (AF). While AF is known to be involved in language, its roles in non-linguistic functions are unexplored. Here we show that tone-deaf people, with impaired sound perception and production, have reduced AF connectivity. Diffusion tensor tractography and psychophysics were assessed in tone-deaf individuals and matched controls. Abnormally-reduced AF connectivity was observed in the tone-deaf. Furthermore, we observed relationships between AF and auditory-motor behavior: superior and inferior AF branches predict psychophysically-assessed pitch-discrimination and sound production-perception abilities respectively. This neural abnormality suggests that tone-deafness leads to a reduction in connectivity resulting in pitch-related impairments. Results support a dual-stream anatomy of sound production and perception implicated in vocal communications. By identifying white-matter differences and their psychophysical correlates, results contribute to our understanding of how neural connectivity subserves behavior. PMID:19692596

Effectiveness of Group Training of Assertiveness on Social Anxiety among Deaf and Hard of Hearing Adolescents.

PubMed

Ahmadi, Hamed; Daramadi, Parviz Sharifi; Asadi-Samani, Majid; Givtaj, Hamed; Sani, Mohammad Reza Mahmoudian

2017-06-01

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. ANCOVA showed that the effectiveness of assertiveness group training on SAD is different between deaf and hearing impaired participants, i.e. assertiveness group training was effective on improvement of SAD in hearing impaired participants but not deaf ones. Therefore, it is recommended to incorporate assertiveness group training in the educational programs developed for adolescents with ear disorders especially hearing impairment.

Muscular tissues of the squid Doryteuthis pealeii express identical myosin heavy chain isoforms: an alternative mechanism for tuning contractile speed

PubMed Central

Shaffer, Justin F.; Kier, William M.

2012-01-01

SUMMARY The speed of muscle contraction is largely controlled at the sarcomere level by the ATPase activity of the motor protein myosin. Differences in amino acid sequence in catalytically important regions of myosin yield different myosin isoforms with varying ATPase activities and resulting differences in cross-bridge cycling rates and interfilamentary sliding velocities. Modulation of whole-muscle performance by changes in myosin isoform ATPase activity is regarded as a universal mechanism to tune contractile properties, especially in vertebrate muscles. Invertebrates such as squid, however, may exhibit an alternative mechanism to tune contractile properties that is based on differences in muscle ultrastructure, including variable myofilament and sarcomere lengths. To determine definitively whether contractile properties of squid muscles are regulated via different myosin isoforms (i.e. different ATPase activities), the nucleotide and amino acid sequences of the myosin heavy chain from the squid Doryteuthis pealeii were determined from the mantle, arm, tentacle, fin and funnel retractor musculature. We identified three myosin heavy chain isoforms in squid muscular tissues, with differences arising at surface loop 1 and the carboxy terminus. All three isoforms were detected in all five tissues studied. These results suggest that the muscular tissues of D. pealeii express identical myosin isoforms, and it is likely that differences in muscle ultrastructure, not myosin ATPase activity, represent the most important mechanism for tuning contractile speeds. PMID:22189767

Deafness, thought bubbles, and theory-of-mind development.

PubMed

Wellman, Henry M; Peterson, Candida C

2013-12-01

The processes and mechanisms of theory-of-mind development were examined via a training study of false-belief conceptions in deaf children of hearing parents (N = 43). In comparison to 2 different control conditions, training based on thought-bubble instruction about beliefs was linked with improved false-belief understanding as well as progress on a broader theory-of-mind scale. By combining intervention, microgenetic, and developmental scaling methods, the findings provide informative data about the nature and mechanisms of theory-of-mind change in deaf children, as well as an initial demonstration of a useful intervention for enhancing social cognition in deaf children of hearing parents. The methods and results also point to possible avenues for the study of conceptual change more generally. PsycINFO Database Record (c) 2013 APA, all rights reserved.

Microvascular diabetes complications in Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD]): an age- and duration-matched comparison with common type 1 diabetes.

PubMed

Cano, Aline; Molines, Laurent; Valéro, René; Simonin, Gilbert; Paquis-Flucklinger, Véronique; Vialettes, Bernard

2007-09-01

Some previous studies suggested that patients suffering from Wolfram syndrome or DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) might be relatively preserved from diabetic retinopathy and nephropathy. However, these data were not conclusive because either observations were only anecdotic or did not match with control type 1 diabetic populations. A group of 26 French diabetic patients with DIDMOAD was compared with a population of 52 patients with common type 1 diabetes matched for age at diabetes diagnosis (8.62 +/- 1.84 vs. 8.27 +/- 1.30 years; P = NS) and diabetes duration (12.88 +/- 1.58 vs. 12.87 +/- 1.13 years; P = NS) to study the quality of glycemic control and the incidence of microvascular complications. Glycemic control was significantly better in the DIDMOAD group than in the type 1 diabetic group (A1C: 7.72 +/- 0.21 vs. 8.99 +/- 0.25%, respectively; P = 0.002), with significant lower daily insulin requirements (0.71 +/- 0.07 vs. 0.88 +/- 0.04 UI x kg(-1) x day(-1), respectively; P = 0.0325). The prevalence of microvascular complications in the DIDMOAD group was half that observed in the type 1 diabetic group, but the difference was not significant. Diabetes in DIDMOAD patients is more easily controlled despite the presence of other handicaps. This better glycemic control could explain the trend to decreased microvascular diabetes complications observed in previous studies.

The Role of MAPT Haplotype H2 and Isoform 1N/4R in Parkinsonism of Older Adults.

PubMed

Valenca, Guilherme T; Srivastava, Gyan P; Oliveira-Filho, Jamary; White, Charles C; Yu, Lei; Schneider, Julie A; Buchman, Aron S; Shulman, Joshua M; Bennett, David A; De Jager, Philip L

2016-01-01

Recently, we have shown that the Parkinson's disease (PD) susceptibility locus MAPT (microtubule associated protein tau) is associated with parkinsonism in older adults without a clinical diagnosis of PD. In this study, we investigated the relationship between parkinsonian signs and MAPT transcripts by assessing the effect of MAPT haplotypes on alternative splicing and expression levels of the most common isoforms in two prospective clinicopathologic studies of aging. using regression analysis, controlling for age, sex, study and neuropathology, we evaluated 976 subjects with clinical, genotyping and brain pathology data for haplotype analysis. For transcript analysis, we obtained MAPT gene and isoform-level expression from the dorsolateral prefrontal cortex for 505 of these subjects. The MAPT H2 haplotype was associated with lower total MAPT expression (p = 1.2x10-14) and global parkinsonism at both study entry (p = 0.001) and proximate to death (p = 0.050). Specifically, haplotype H2 was primarily associated with bradykinesia in both assessments (p<0.001 and p = 0.008). MAPT total expression was associated with age and decreases linearly with advancing age (p<0.001). Analysing MAPT alternative splicing, the expression of 1N/4R isoform was inversely associated with global parkinsonism (p = 0.008) and bradykinesia (p = 0.008). Diminished 1N/4R isoform expression was also associated with H2 (p = 0.001). Overall, our results suggest that age and H2 are associated with higher parkinsonism score and decreased total MAPT RNA expression. Additionally, we found that H2 and parkinsonism are associated with altered expression levels of specific isoforms. These findings may contribute to the understanding of the association between MAPT locus and parkinsonism in elderly subjects and in some extent to age-related neurodegenerative diseases.

Deaf-Blind Perspectives. Volume 3, 1995-1996.

ERIC Educational Resources Information Center

Deaf-Blind Perspectives, 1996

1996-01-01

These three newsletter issues present feature articles and resources on individuals with deaf-blindness. The following articles are included: (1) "Current Status for Reauthorization of IDEA" (Joseph McNulty); (2) "Utah Enhances Services for Children Who Are Deaf-Blind" (Paddi Henderson and John Killoran); (3) "Families and…

The Effect of Congenital Deafness on Duration Judgment

ERIC Educational Resources Information Center

Kowalska, Joanna; Szelag, Elzbieta

2006-01-01

Objective: Congenital deafness provides the opportunity to study how atypical sensory and language experiences affect different aspects of information processing, e.g., time perception. Methods: Using two methods of temporal estimation, reproduction (Exp. 1) and production (Exp. 2), the effect of deafness on duration judgment was investigated…

Educational Programs and Services.

ERIC Educational Resources Information Center

American Annals of the Deaf, 1989

1989-01-01

Listed are over 1,000 programs for the deaf including preschool through secondary schools and classes in the U.S. and Canada, postsecondary programs, teacher training programs, programs for professional specialists, programs for training interpreters for the deaf, programs for the deaf-blind, the Helen Keller National Center, and programs for…

Glycerol-3-phosphate Acyltransferase (GPAT)-1, but Not GPAT4, Incorporates Newly Synthesized Fatty Acids into Triacylglycerol and Diminishes Fatty Acid Oxidation*

PubMed Central

Wendel, Angela A.; Cooper, Daniel E.; Ilkayeva, Olga R.; Muoio, Deborah M.; Coleman, Rosalind A.

2013-01-01

Four glycerol-3-phosphate acyltransferase (GPAT) isoforms, each encoded by a separate gene, catalyze the initial step in glycerolipid synthesis; in liver, the major isoforms are GPAT1 and GPAT4. To determine whether each of these hepatic isoforms performs a unique function in the metabolism of fatty acid, we measured the incorporation of de novo synthesized fatty acid or exogenous fatty acid into complex lipids in primary mouse hepatocytes from control, Gpat1−/−, and Gpat4−/− mice. Although hepatocytes from each genotype incorporated a similar amount of exogenous fatty acid into triacylglycerol (TAG), only control and Gpat4−/− hepatocytes were able to incorporate de novo synthesized fatty acid into TAG. When compared with controls, Gpat1−/− hepatocytes oxidized twice as much exogenous fatty acid. To confirm these findings and to assess hepatic β-oxidation metabolites, we measured acylcarnitines in liver from mice after a 24-h fast and after a 24-h fast followed by 48 h of refeeding with a high sucrose diet to promote lipogenesis. Confirming the in vitro findings, the hepatic content of long-chain acylcarnitine in fasted Gpat1−/− mice was 3-fold higher than in controls. When compared with control and Gpat4−/− mice, after the fasting-refeeding protocol, Gpat1−/− hepatic TAG was depleted, and long-chain acylcarnitine content was 3.5-fold higher. Taken together, these data demonstrate that GPAT1, but not GPAT4, is required to incorporate de novo synthesized fatty acids into TAG and to divert them away from oxidation. PMID:23908354

Magic Finger Teaching Method in Learning Multiplication Facts among Deaf Students

ERIC Educational Resources Information Center

Thai, Liong; Yasin, Mohd. Hanafi Mohd

2016-01-01

Deaf students face problems in mastering multiplication facts. This study aims to identify the effectiveness of Magic Finger Teaching Method (MFTM) and students' perception towards MFTM. The research employs a quasi experimental with non-equivalent pre-test and post-test control group design. Pre-test, post-test and questionnaires were used. As…

Deafness, Thought Bubbles, and Theory-of-Mind Development

ERIC Educational Resources Information Center

Wellman, Henry M.; Peterson, Candida C.

2013-01-01

The processes and mechanisms of theory-of-mind development were examined via a training study of false-belief conceptions in deaf children of hearing parents (N = 43). In comparison to 2 different control conditions, training based on thought-bubble instruction about beliefs was linked with improved false-belief understanding as well as progress…

Phonological Processing in Adults with Deficits in Musical Pitch Recognition

ERIC Educational Resources Information Center

Jones, Jennifer L.; Lucker, Jay; Zalewski, Christopher; Brewer, Carmen; Drayna, Dennis

2009-01-01

We identified individuals with deficits in musical pitch recognition by screening a large random population using the Distorted Tunes Test (DTT), and enrolled individuals who had DTT scores in the lowest 10th percentile, classified as tune deaf. We examined phonological processing abilities in 35 tune deaf and 34 normal control individuals. Eight…

Sensory Aids Research Project - Clarke School for the Deaf.

ERIC Educational Resources Information Center

Boothroyd, Arthur

Described is a program of research into sensory aids for the deaf, emphasizing research on factors involved in the effective use of sensory aids rather than evaluation of particular devices. Aspects of the program are the development of a programed testing and training unit, the control of fundamental voice frequency using visual feedback, and…

Protein isoform-specific validation defines multiple chloride intracellular channel and tropomyosin isoforms as serological biomarkers of ovarian cancer.

PubMed

Tang, Hsin-Yao; Beer, Lynn A; Tanyi, Janos L; Zhang, Rugang; Liu, Qin; Speicher, David W

2013-08-26

New serological biomarkers for early detection and clinical management of ovarian cancer are urgently needed, and many candidates have been reported. A major challenge frequently encountered when validating candidates in patients is establishing quantitative assays that distinguish between highly homologous proteins. The current study tested whether multiple members of two recently discovered ovarian cancer biomarker protein families, chloride intracellular channel (CLIC) proteins and tropomyosins (TPM), were detectable in ovarian cancer patient sera. A multiplexed, label-free multiple reaction monitoring (MRM) assay was established to target peptides specific to all detected CLIC and TPM family members, and their serum levels were quantitated for ovarian cancer patients and non-cancer controls. In addition to CLIC1 and TPM1, which were the proteins initially discovered in a xenograft mouse model, CLIC4, TPM2, TPM3, and TPM4 were present in ovarian cancer patient sera at significantly elevated levels compared with controls. Some of the additional biomarkers identified in this homolog-centric verification and validation approach may be superior to the previously identified biomarkers at discriminating between ovarian cancer and non-cancer patients. This demonstrates the importance of considering all potential protein homologs and using quantitative assays for cancer biomarker validation with well-defined isoform specificity. This manuscript addresses the importance of distinguishing between protein homologs and isoforms when identifying and validating cancer biomarkers in plasma or serum. Specifically, it describes the use of targeted in-depth LC-MS/MS analysis to determine the members of two protein families, chloride intracellular channel (CLIC) and tropomyosin (TPM) proteins that are detectable in sera of ovarian cancer patients. It then establishes a multiplexed isoform- and homology-specific MRM assay to quantify all observed gene products in these two protein families as well as many of the closely related tropomyosin isoforms. Using this assay, levels of all detected CLICs and TPMs were quantified in ovarian cancer patient and control subject sera. These results demonstrate that in addition to the previously known CLIC1, multiple tropomyosins and CLIC4 are promising new ovarian cancer biomarkers. Based on these initial validation studies, these new ovarian cancer biomarkers appear to be superior to most previously known ovarian cancer biomarkers. Copyright © 2013 Elsevier B.V. All rights reserved.

ACP1 and human adaptability: association with past malarial morbidity in the Sardinian population.

PubMed

Bottini, E; Palmarino, R; Lucarelli, P; Lista, F; Bottini, N

2001-01-01

Acid Phosphatase locus 1 (ACP1) is a polymorphic enzyme controlled by a locus on chromosome 2 with three common codominant alleles: *A, *B, and *C. ACP1 shows two major isoforms, F and S. The ratio of their concentration differs markedly among genotypes. Two functions have been proposed for the enzyme: flavin-mononucleotide phosphatase and tyrosine phosphatase activity. An association between ACP1 polymorphism and past malarial morbidity in Sardinia and the Po Valley has been described. Genetic polymorphisms could contribute to natural resistance or susceptibility to the disease. On the other hand, malaria pressure may select for genes that increase susceptibility to common diseases of modern civilization. Thus, the association between ACP1 and malaria in Sardinia in the light of recent understanding of the function of ACP1 and the molecular basis of malaria pathophysiology, especially aspects of the structure of band 3 protein (B3P) and the role of cytokines have been revisited. There is a significant negative correlation between ACP1 S isoform concentration, directly related to the ACP1*C allele, and past malarial morbidity in Sardinia. Populations subjected in the past to a heavy malarial burden show, at present, a lower concentration of the S isoform compared to a nearby malaria-free population, suggesting that genotypes with high S isoform concentration have been subjected to negative selection in a malarial environment. Correlation analysis and analysis of the joint G-6-PD/ACP1 distribution suggest that the relationship between past endemic malaria and the S isoform has not been mediated by glucose-6-phosphate dehydrogenase (G-6-PD) deficiency, thus pointing to a direct effect of malaria on ACP1. Copyright 2001 Wiley-Liss, Inc.

Oral health care knowledge and practices of a group of deaf adolescents in Lagos, Nigeria.

PubMed

Oredugba, Folakemi A

2004-01-01

This study sought to determine the oral health care knowledge and practices of a group of deaf adolescents in Lagos. The study involved 50 students of Wesley School 1 for the Deaf, Lagos (26 males and 24 females, aged 10-19 years, mean 13.3 +/- 2.8). Information about previous dental care, oral hygiene, and snacking habits were obtained through a questionnaire and sign language by the teachers. Only 12 percent of pupils had received dental care. Eight percent and 72 percent, respectively, gave correct answers to causes of tooth decay and bleeding gums. Ninety-four percent brushed their teeth once daily, with no significant sex difference (P > .05). Reported dental problems include bleeding gums (36%), tooth discoloration, and tooth decay. The majority of pupils (60%) preferred biscuits and soft drinks as snacks. More than 90 percent were willing to have a dental check-up. The oral health knowledge and practices of this group of children will improve through a controlled school-based oral health education program.

Psychodynamic conflicts in hearing children of deaf parents.

PubMed

Frank, H

A case study documents the consequences of parental deafness on the personality development of hearing children. Of central dynamic significance are unacknowledged feelings of resentment generated by (1) acute feelings of humiliation experienced about the parents' imperfections, (2) identity confusion resulting from the parents' suspicious attitude toward the hearing world, and (3) the inevitable role-reversal resulting from the parents' handicapped status. The possibility of taking triumphant pleasure in more fortunate life circumstances evokes intense guilt and forms the basis for a conflictual attitude toward success. A proclivity toward guilt appears to be an outstanding psychological characteristic of children of handicapped parents, irrespective of the nature of the handicap. Some relevant variables include: greater resentment due to unavoidable early frustrations, a reluctance to direct aggression outward, despair about making reparations to parents seen as damaged by the child's aggression, and absence of external controls on the expression hostility (victories are easy). Some parallels are noted between conflicts displayed in hearing children of deaf parents and children of immigrant parents.

Evaluative understanding and role-taking ability: a comparison of deaf and hearing children.

PubMed

Kusché, C A; Greenberg, M T

1983-02-01

The purposes of this study were (1) to evaluate the growth of social-cognitive knowledge in deaf and hearing children during the early and middle school years and (2) to assess the relative importance of language in 2 domains of social cognition. This study separately examined the child's ability to (1) evaluate the concepts of good and bad and (2) take another person's perspective. Subjects consisted of 30 deaf and 30 hearing children divided into 3 developmental levels (52 months, 74 months, and 119 months old). For the good/bad evaluation test, each child was shown 12 sets of multiple-choice pictures. Each set had 4 alternatives, which included 1 good, 1 bad, or all neutral activities. Role-taking ability was evaluated through the child's choice of strategy in a binary-choice hiding/guessing game. The results showed that deaf children evidence a developmental delay in the understanding of the concepts of good and bad. With regard to role-taking ability, there appears to be a developmental delay with young deaf children, which is no longer apparent by the age of 6. The assumption of egocentrism in school-age deaf children frequently found in the literature thus appears to be misleading. It is not that these deaf children are unable to take another person's perspective, but rather that they are delayed in evaluative understanding. The results suggest that language is of varying importance in differing domains of social and personality development.

Context-dependent modulation of Pol II CTD phosphatase SSUP-72 regulates alternative polyadenylation in neuronal development

PubMed Central

Chen, Fei; Zhou, Yu; Qi, Yingchuan B.; Khivansara, Vishal; Li, Hairi; Chun, Sang Young; Kim, John K.; Fu, Xiang-Dong; Jin, Yishi

2015-01-01

Alternative polyadenylation (APA) is widespread in neuronal development and activity-mediated neural plasticity. However, the underlying molecular mechanisms are largely unknown. We used systematic genetic studies and genome-wide surveys of the transcriptional landscape to identify a context-dependent regulatory pathway controlling APA in the Caenorhabditis elegans nervous system. Loss of function in ssup-72, a Ser5 phosphatase for the RNA polymerase II (Pol II) C-terminal domain (CTD), dampens transcription termination at a strong intronic polyadenylation site (PAS) in unc-44/ankyrin yet promotes termination at the weak intronic PAS of the MAP kinase dlk-1. A nuclear protein, SYDN-1, which regulates neuronal development, antagonizes the function of SSUP-72 and several nuclear polyadenylation factors. This regulatory pathway allows the production of a neuron-specific isoform of unc-44 and an inhibitory isoform of dlk-1. Dysregulation of the unc-44 and dlk-1 mRNA isoforms in sydn-1 mutants impairs neuronal development. Deleting the intronic PAS of unc-44 results in increased pre-mRNA processing of neuronal ankyrin and suppresses sydn-1 mutants. These results reveal a mechanism by which regulation of CTD phosphorylation controls coding region APA in the nervous system. PMID:26588990

Increased levels of the 14-3-3 η and γ proteins in the synovial fluid of dogs with unilateral cranial cruciate ligament rupture.

PubMed

Sardari, Kamran; Chavez-Muñoz, Claudia; Kilani, Ruhangiz T; Schiller, Terri; Ghahary, Aziz

2011-10-01

The present study investigated whether the 14-3-3 η and γ proteins, which are potent matrix metalloprotease (MMP) stimulators, are detectable in the synovial fluid of dogs with cranial cruciate ligament rupture (CCLR). Synovial fluid samples from 7 dogs with unilateral CCLR and control samples from 4 dogs without a history of any joint inflammation or any other abnormalities underwent Western blot analysis for the 14-3-3 η, γ, and σ proteins as well as MMP-1 and MMP-3. Craniocaudal and lateral radiographic projections of the stifle joint were evaluated for the presence and severity of 13 specific radiographic markers of osteoarthritis and graded numerically. The Spearman method was used to detect any correlation between the 14-3-3-η level in the synovial fluid and the radiograph-based grade. The η isoform was present only in the samples from the dogs with CCLR. The levels of 14-3-3-γ, MMP-1, and MMP-3 were significantly higher in the samples from the dogs with CCLR than in the control samples (P < 0.05). However, there was no significant difference between the CCLR and control samples in the level of the σ isoform. The Spearman method showed a significant correlation between the 14-3-3-η level in the synovial fluid and the presence of either patellar osteophytes or lateral or medial (or both) condylar periarticular osteophytes (P < 0.05). The MMP stimulatory effect of the 14-3-3 η and γ isoforms may be the reason for the high levels of MMP-1 and MMP-3 observed. Thus, 14-3-3 proteins, especially the η isoform, may be important markers of osteoarthritis caused by CCLR.

Increased levels of the 14-3-3 η and γ proteins in the synovial fluid of dogs with unilateral cranial cruciate ligament rupture

PubMed Central

Sardari, Kamran; Chavez-Muñoz, Claudia; Kilani, Ruhangiz T.; Schiller, Terri; Ghahary, Aziz

2011-01-01

The present study investigated whether the 14-3-3 η and γ proteins, which are potent matrix metalloprotease (MMP) stimulators, are detectable in the synovial fluid of dogs with cranial cruciate ligament rupture (CCLR). Synovial fluid samples from 7 dogs with unilateral CCLR and control samples from 4 dogs without a history of any joint inflammation or any other abnormalities underwent Western blot analysis for the 14-3-3 η, γ, and σ proteins as well as MMP-1 and MMP-3. Craniocaudal and lateral radiographic projections of the stifle joint were evaluated for the presence and severity of 13 specific radiographic markers of osteoarthritis and graded numerically. The Spearman method was used to detect any correlation between the 14-3-3-η level in the synovial fluid and the radiograph-based grade. The η isoform was present only in the samples from the dogs with CCLR. The levels of 14-3-3-γ, MMP-1, and MMP-3 were significantly higher in the samples from the dogs with CCLR than in the control samples (P < 0.05). However, there was no significant difference between the CCLR and control samples in the level of the σ isoform. The Spearman method showed a significant correlation between the 14-3-3-η level in the synovial fluid and the presence of either patellar osteophytes or lateral or medial (or both) condylar periarticular osteophytes (P < 0.05). The MMP stimulatory effect of the 14-3-3 η and γ isoforms may be the reason for the high levels of MMP-1 and MMP-3 observed. Thus, 14-3-3 proteins, especially the η isoform, may be important markers of osteoarthritis caused by CCLR. PMID:22468024

[Clinical analysis of using hyperbaric oxygen comprehensive therapy for the treatment of 110 cases noise induced deafness].

PubMed

Tan, Junwu; Li, Liangbo; Peng, Hong

2014-10-01

To observe the clinical effects of using hyperbaric oxygen comprehensive therapy for the treatment of noise induced deafness. From May 2009 to April 2012 in our hospital 220 cases of noise induced deafness patients were chosen and they were all construction workers; According to different treatments all patients were divided into the control group (110 cases) only having hyperbaric oxygen treatment and the treatment group (110 cases) using hyperbaric oxygen comprehensive therapy, including control group simply by. Hearing improvements of the two groups were recorded and compared. The cure rate of the comprehensive therapy group was 53.6%which was higher than that of the control group 38.2% (χ(2) = 5.290, P < 5.290), while the total effective rate of the comprehensive therapy group was 79.1%which was also significantly higher than that of the control group 67.3% (χ(2) = 3.914, P < 0.05). After two courses of comprehensive treatment the cure rate and total effective rate were 47.3%and 73.6%respectively, while after four courses of comprehensive treatment group the cure rate and total effective rate turned to be 60.9% and 84.5% respectively, which had significant difference (χ(2) values were 4.118 and 3.958, P < 0.05). The cure rate and total effective rate of the comprehensive therapy group are higher than the simple hyperbaric oxygen treatment group, which is worthy of clinical application and promotion in the future.

Guide to Working with Deaf and Hard of Hearing Students

ERIC Educational Resources Information Center

PEPNet, 2009

2009-01-01

This handbook was created for professors, high school teachers and vocational teachers new to interacting with Deaf and Hard of Hearing students. Topics include a general understanding of deafness, classroom accommodations, and communication tips. Appendices include: (1) A Professor Shares His Experience; (2) A Vocational Rehabilitation Counselor…

Sound Minds in a Soundless World.

ERIC Educational Resources Information Center

Robinson, Luther D.

The author supports the promotion of mental health for deaf individuals through improved and expanded mental health services. To illustrate the psychological, educational, vocational, and social implications of deafness, Chapter 1 presents a profile of the deaf individual with emphasis on the communication barriers which exist at each stage of…

76 FR 68780 - Renewal of Approved Information Collection, OMB Control Number 1004-0201

Federal Register 2010, 2011, 2012, 2013, 2014

2011-11-07

...: Mavis Love at (307) 775-6258. Persons who use a telecommunication device for the deaf (TDD) may call the Federal Information Relay Service at 1-(800) 877-8339, to contact Ms. Love. You may also review the...

Dependence of cross-bridge kinetics on myosin light chain isoforms in rabbit and rat skeletal muscle fibres.

PubMed

Andruchov, Oleg; Andruchova, Olena; Wang, Yishu; Galler, Stefan

2006-02-15

Cross-bridge kinetics underlying stretch-induced force transients was studied in fibres with different myosin light chain (MLC) isoforms from skeletal muscles of rabbit and rat. The force transients were induced by stepwise stretches (< 0.3% of fibre length) applied on maximally Ca2+-activated skinned fibres. Fast fibre types IIB, IID (or IIX) and IIA and the slow fibre type I containing the myosin heavy chain isoforms MHC-IIb, MHC-IId (or MHC-IIx), MHC-IIa and MHC-I, respectively, were investigated. The MLC isoform content varied within fibre types. Fast fibre types contained the fast regulatory MLC isoform MLC2f and different proportions of the fast alkali MLC isoforms MLC1f and MLC3f. Type I fibres contained the slow regulatory MLC isoform MLC2s and the slow alkali MLC isoform MLC1s. Slow MLC isoforms were also present in several type IIA fibres. The kinetics of force transients differed by a factor of about 30 between fibre types (order from fastest to slowest kinetics: IIB > IID > IIA > I). The kinetics of the force transients was not dependent on the relative content of MLC1f and MLC3f. Type IIA fibres containing fast and slow MLC isoforms were about 1.2 times slower than type IIA fibres containing only fast MLC isoforms. We conclude that while the cross-bridge kinetics is mainly determined by the MHC isoforms present, it is affected by fast and slow MLC isoforms but not by the relative content of MLC1f and MLC3f. Thus, the physiological role of fast and slow MLC isoforms in type IIA fibres is a fine-tuning of the cross-bridge kinetics.

The exoribonuclease Nibbler controls 3' end processing of microRNAs in Drosophila.

PubMed

Liu, Nan; Abe, Masashi; Sabin, Leah R; Hendriks, Gert-Jan; Naqvi, Ammar S; Yu, Zhenming; Cherry, Sara; Bonini, Nancy M

2011-11-22

MicroRNAs (miRNAs) are endogenous noncoding small RNAs with important roles in many biological pathways; their generation and activity are under precise regulation [1-3]. Emerging evidence suggests that miRNA pathways are precisely modulated with controls at the level of transcription [4-8], processing [9-11], and stability [12, 13], with miRNA deregulation linked with diseases [14] and neurodegenerative disorders [15]. In the Drosophila miRNA biogenesis pathway, long primary miRNA transcripts undergo sequential cleavage [16-18] to release the embedded miRNAs. Mature miRNAs are then loaded into Argonaute1 (Ago1) within the RNA-induced silencing complex (RISC) [19, 20]. Intriguingly, we found that Drosophila miR-34 displays multiple isoforms that differ at the 3' end, suggesting a novel biogenesis mechanism involving 3' end processing. To define the cellular factors responsible, we performed an RNA interference (RNAi) screen and identified a putative 3'→5' exoribonuclease CG9247/nibbler essential for the generation of the smaller isoforms of miR-34. Nibbler (Nbr) interacts with Ago1 and processes miR-34 within RISC. Deep sequencing analysis revealed a larger set of multi-isoform miRNAs that are controlled by nibbler. These findings suggest that Nbr-mediated 3' end processing represents a critical step in miRNA maturation that impacts miRNA diversity. Copyright © 2011 Elsevier Ltd. All rights reserved.

Survey Evaluation of Pharmacy Practice Involving Deaf Patients.

PubMed

Ferguson, McKenzie C; Shan, Leah

2016-10-01

For a patient who is deaf, providing patient care can be more difficult due to communication barriers. This study was conducted in order to better understand pharmacists' current means of communicating with deaf patients as well as investigating pharmacists' knowledge of their legal responsibility to these patients. Surveys were used to gather information from pharmacists and were distributed in areas with a large population of deaf patients. Of the 73 pharmacists who completed surveys, 50 (68.5%) of them interact with at least 1 to 5 deaf patients monthly. Pharmacists responded that accessibility of interpreters is the most significant barrier to communication and providing written material is the method most used to communicate with deaf patients. None of the 73 pharmacists who completed the survey felt that they have a legal obligation to provide and pay for an interpreter. When interacting with a deaf patient, pharmacists may experience communication barriers. Pharmacists should strive to appropriately communicate with the deaf as well as familiarize themselves with legal obligations to this patient population. © The Author(s) 2015.

Waardenburg syndrome in the Turkish deaf population.

PubMed

Silan, F; Zafer, C; Onder, I

2006-01-01

Waardenburg Syndrome (WS) is an autosomal, dominantly inherited disorder that accounts for more than 2% cases of congenital deafness. The aim of this study is to determine the WS incidence among deaf pupils. Dysmorphological examination was performed on 720 children who were attending 7 special schools in Turkey and who had hearing disabilities. All subjects in the study were examined for WS diagnostic criteria. We detected 49 patients (6.8%) with WS among the 720 children examined. Six patients had WS type 1 (12.2%) and 43 had type 2 (87.8%). We observed 2 to 5 major diagnostic criteria for WS. Out of all the subjects in the study, only two patients have deaf first degree relatives. All subjects had been previously examined by physicians for deafness but none of them had been then diagnosed to have Waardenburg Syndrome. Instead, they were all misdiagnosed as to have nonsyndromic deafness. Awareness of WS diagnostic criteria by the physicans will provide accurate diagnosis for many deaf pupils and their first degree relatives who are able-to-hear WS patients and whose children are at risk for deafness.

Effects of chronic Akt/mTOR inhibition by rapamycin on mechanical overload-induced hypertrophy and myosin heavy chain transition in masseter muscle.

PubMed

Umeki, Daisuke; Ohnuki, Yoshiki; Mototani, Yasumasa; Shiozawa, Kouichi; Fujita, Takayuki; Nakamura, Yoshiki; Saeki, Yasutake; Okumura, Satoshi

2013-01-01

To examine the effects of the Akt/mammalian target of rapamycin (mTOR) pathway on masseter muscle hypertrophy and myosin heavy chain (MHC) transition in response to mechanical overload, we analyzed the effects of bite-opening (BO) on the hypertrophy and MHC composition of masseter muscle of BO-rats treated or not treated with rapamycin (RAPA), a selective mTOR inhibitor. The masseter muscle weight in BO-rats was significantly greater than that in controls, and this increase was attenuated by RAPA treatment. Expression of slow-twitch MHC isoforms was significantly increased in BO-rats with/without RAPA treatment, compared with controls, but the magnitude of the increase was much smaller in RAPA-treated BO-rats. Phosphorylation of p44/42 MAPK (ERK1/2), which preserves fast-twitch MHC isoforms in skeletal muscle, was significantly decreased in BO-rats, but the decrease was abrogated by RAPA treatment. Calcineurin signaling is known to be important for masseter muscle hypertrophy and fast-to-slow MHC isoform transition, but expression of known calcineurin activity modulators was unaffected by RAPA treatment. Taken together, these results indicate that the Akt/mTOR pathway is involved in both development of masseter muscle hypertrophy and fast-to-slow MHC isoform transition in response to mechanical overload with inhibition of the ERK1/2 pathway and operates independently of the calcineurin pathway.

Circulating autoantibodies to phosphorylated α-enolase are a hallmark of pancreatic cancer.

PubMed

Tomaino, Barbara; Cappello, Paola; Capello, Michela; Fredolini, Claudia; Sperduti, Isabella; Migliorini, Paola; Salacone, Paola; Novarino, Anna; Giacobino, Alice; Ciuffreda, Libero; Alessio, Massimo; Nisticò, Paola; Scarpa, Aldo; Pederzoli, Paolo; Zhou, Weidong; Petricoin Iii, Emanuel F; Liotta, Lance A; Giovarelli, Mirella; Milella, Michele; Novelli, Francesco

2011-01-07

Pancreatic ductal adenocarcinoma (PDAC) has a dismal prognosis and no diagnostic markers have, as of yet, been defined. In PDAC patients, α-enolase (ENOA) is up-regulated and elicits the production of autoantibodies. Here, we analyzed the autoantibody response to post-translational modifications of ENOA in PDAC patients. ENOA isolated from PDAC tissues and cell lines was characterized by two-dimensional electrophoresis (2-DE) Western blot (WB), revealing the expression of six different isoforms (named ENOA1,2,3,4,5,6) whereas only 4 isoforms (ENOA3,4,5,6) were detectable in normal tissues. As assessed by 2-DE WB, 62% of PDAC patients produced autoantibodies to the two more acidic isoforms (ENOA1,2) as opposed to only 4% of controls. Mass spectrometry showed that ENOA1,2 isoforms were phosphorylated on serine 419. ROC analysis demonstrated that autoantibodies to ENOA1,2 usefully complement the diagnostic performance of serum CA19.9 levels, achieving approximately 95% diagnostic accuracy in both advanced and resectable PDAC. Moreover, the presence of autoantibodies against ENOA1,2 correlated with a significantly better clinical outcome in advanced patients treated with standard chemotherapy. In conclusion, our results demonstrate that ENOA phosphorylation is associated with PDAC and induces specific autoantibody production in PDAC patients that may have diagnostic value.

Differential expression of ryanodine receptor isoforms after spinal cord injury.

PubMed

Pelisch, Nicolas; Gomes, Cynthia; Nally, Jacqueline M; Petruska, Jeffrey C; Stirling, David P

2017-11-01

Ryanodine receptors (RyRs) are highly conductive intracellular Ca 2+ release channels and are widely expressed in many tissues, including the central nervous system. RyRs have been implicated in intracellular Ca 2+ overload which can drive secondary damage following traumatic injury to the spinal cord (SCI), but the spatiotemporal expression of the three isoforms of RyRs (RyR1-3) after SCI remains unknown. Here, we analyzed the gene and protein expression of RyR isoforms in the murine lumbar dorsal root ganglion (DRG) and the spinal cord lesion site at 1, 2 and 7 d after a mild contusion SCI. Quantitative RT PCR analysis revealed that RyR3 was significantly increased in lumbar DRGs and at the lesion site at 1 and 2 d post contusion compared to sham (laminectomy only) controls. Additionally, RyR2 expression was increased at 1 d post injury within the lesion site. RyR2 and -3 protein expression was localized to lumbar DRG neurons and their spinal projections within the lesion site acutely after SCI. In contrast, RyR1 expression within the DRG and lesion site remained unaltered following trauma. Our study shows that SCI initiates acute differential expression of RyR isoforms in DRG and spinal cord. Copyright © 2017 Elsevier B.V. All rights reserved.

Emotional recognition of dynamic facial expressions before and after cochlear implantation in adults with progressive deafness.

PubMed

Ambert-Dahan, Emmanuèle; Giraud, Anne-Lise; Mecheri, Halima; Sterkers, Olivier; Mosnier, Isabelle; Samson, Séverine

2017-10-01

Visual processing has been extensively explored in deaf subjects in the context of verbal communication, through the assessment of speech reading and sign language abilities. However, little is known about visual emotional processing in adult progressive deafness, and after cochlear implantation. The goal of our study was thus to assess the influence of acquired post-lingual progressive deafness on the recognition of dynamic facial emotions that were selected to express canonical fear, happiness, sadness, and anger. A total of 23 adults with post-lingual deafness separated into two groups; those assessed either before (n = 10) and those assessed after (n = 13) cochlear implantation (CI); and 13 normal hearing (NH) individuals participated in the current study. Participants were asked to rate the expression of the four cardinal emotions, and to evaluate both their emotional valence (unpleasant-pleasant) and arousal potential (relaxing-stimulating). We found that patients with deafness were impaired in the recognition of sad faces, and that patients equipped with a CI were additionally impaired in the recognition of happiness and fear (but not anger). Relative to controls, all patients with deafness showed a deficit in perceiving arousal expressed in faces, while valence ratings remained unaffected. The current results show for the first time that acquired and progressive deafness is associated with a reduction of emotional sensitivity to visual stimuli. This negative impact of progressive deafness on the perception of dynamic facial cues for emotion recognition contrasts with the proficiency of deaf subjects with and without CIs in processing visual speech cues (Rouger et al., 2007; Strelnikov et al., 2009; Lazard and Giraud, 2017). Altogether these results suggest there to be a trade-off between the processing of linguistic and non-linguistic visual stimuli. Copyright © 2017. Published by Elsevier B.V.

Responding to the deaf in disasters: establishing the need for systematic training for state-level emergency management agencies and community organizations

PubMed Central

2013-01-01

Background Deaf and hard-of-hearing (Deaf/HH) individuals have been underserved before and during emergencies. This paper will assess Deaf/HH related emergency preparedness training needs for state emergency management agencies and deaf-serving community-based organizations (CBOs). Methods Four approaches were used: 1) a literature review; 2) results from 50 key informant (KI) interviews from state and territorial-level emergency management and public health agencies; 3) results from 14 KI interviews with deaf-serving CBOs in the San Francisco Bay Area; and 4) a pilot program evaluation of an emergency responder training serving the Deaf/HH in one urban community. Results Results from literature review and state and territorial level KIs indicate that there is a substantive gap in emergency preparedness training on serving Deaf/HH provided by state agencies. In addition, local KI interviews with 14 deaf-serving CBOs found gaps in training within deaf-serving CBOs. These gaps have implications for preparing for and responding to all-hazards emergencies including weather-related or earthquake-related natural disasters, terrorist attacks, and nuclear-chemical disasters. Conclusion Emergency preparedness trainings specific to responding to or promoting preparedness of the Deaf/HH is rare, even for state agency personnel, and frequently lack standardization, evaluation, or institutionalization in emergency management infrastructure. This has significant policy and research implications. Similarly, CBOs are not adequately trained to serve the needs of their constituents. PMID:23497178

Self-concept and psychopathology in deaf adolescents: preliminary support for moderating effects of deafness-related characteristics and peer problems.

PubMed

van Gent, Tiejo; Goedhart, Arnold W; Treffers, Philip D A

2011-06-01

High rates of psychopathology were found amongst deaf adolescents, but little is known about the psychosocial risk factors. This study investigated whether (1) less severe deafness and/or acquired or otherwise complicated deafness, and (2) having mainly contacts with hearing people, each represent chronic stressful conditions that moderate the associations between self-esteem and emotional problems. In addition, the moderating effect of observed peer rejection on the association between social acceptance and behavioural problems was explored. Deaf adolescents of normal intelligence (N = 68) completed the Self Perception Profile for Adolescents. Psychopathology was assessed using a semi-structured interview with adolescents and reports by parents, teachers and expert ratings. Data on moderator variables were collected from school records, parental and teachers' reports. Emotional mental health problems were negatively associated with self-esteem and positively with peer rejection. The association between self-esteem and emotional problems was moderated by the deafness variable less severe deafness or acquired or otherwise complicated deafness. Behavioural mental health problems were positively associated with social acceptance and peer rejection but negatively with the amount of involvement with hearing people. Peer rejection moderated the association between social acceptance and behavioural problems. The findings emphasise the importance of considering self-concept dimensions, peer problems and deafness- and context-related characteristics when assessing and treating deaf adolescents. © 2011 The Authors. Journal of Child Psychology and Psychiatry © 2011 Association for Child and Adolescent Mental Health.

Deaf children's use of clear visual cues in mindreading.

PubMed

Hao, Jian; Su, Yanjie

2014-11-01

Previous studies show that typically developing 4-year old children can understand other people's false beliefs but that deaf children of hearing families have difficulty in understanding false beliefs until the age of approximately 13. Because false beliefs are implicit mental states that are not expressed through clear visual cues in standard false belief tasks, the present study examines the hypothesis that the deaf children's developmental delay in understanding false beliefs may reflect their difficulty in understanding a spectrum of mental states that are not expressed through clear visual cues. Nine- to 13-year-old deaf children of hearing families and 4-6-year-old typically developing children completed false belief tasks and emotion recognition tasks under different cue conditions. The results indicated that after controlling for the effect of the children's language abilities, the deaf children inferred other people's false beliefs as accurately as the typically developing children when other people's false beliefs were clearly expressed through their eye-gaze direction. However, the deaf children performed worse than the typically developing children when asked to infer false beliefs with ambiguous or no eye-gaze cues. Moreover, the deaf children were capable of recognizing other people's emotions that were clearly conveyed by their facial or body expressions. The results suggest that although theory-based or simulation-based mental state understanding is typical of hearing children's theory of mind mechanism, for deaf children of hearing families, clear cue-based mental state understanding may be their specific theory of mind mechanism. Copyright © 2014 Elsevier Ltd. All rights reserved.

A dual-route cascaded model of reading by deaf adults: evidence for grapheme to viseme conversion.

PubMed

Elliott, Eeva A; Braun, Mario; Kuhlmann, Michael; Jacobs, Arthur M

2012-01-01

There is an ongoing debate whether deaf individuals access phonology when reading, and if so, what impact the ability to access phonology might have on reading achievement. However, the debate so far has been theoretically unspecific on two accounts: (a) the phonological units deaf individuals may have of oral language have not been specified and (b) there seem to be no explicit cognitive models specifying how phonology and other factors operate in reading by deaf individuals. We propose that deaf individuals have representations of the sublexical structure of oral-aural language which are based on mouth shapes and that these sublexical units are activated during reading by deaf individuals. We specify the sublexical units of deaf German readers as 11 "visemes" and incorporate the viseme set into a working model of single-word reading by deaf adults based on the dual-route cascaded model of reading aloud by Coltheart, Rastle, Perry, Langdon, and Ziegler (2001. DRC: A dual route cascaded model of visual word recognition and reading aloud. Psychological Review, 108, 204-256. doi: 10.1037//0033-295x.108.1.204). We assessed the indirect route of this model by investigating the "pseudo-homoviseme" effect using a lexical decision task in deaf German reading adults. We found a main effect of pseudo-homovisemy, suggesting that at least some deaf individuals do automatically access sublexical structure during single-word reading.

MYCN controls an alternative RNA splicing program in high-risk metastatic neuroblastoma

PubMed Central

Zhang, Shile; Wei, Jun S.; Li, Samuel Q.; Badgett, Tom C.; Song, Young K.; Agarwal, Saurabh; Coarfa, Cristian; Tolman, Catherine; Hurd, Laura; Liao, Hongling; He, Jianbin; Wen, Xinyu; Liu, Zhihui; Thiele, Carol J.; Westermann, Frank; Asgharzadeh, Shahab; Seeger, Robert C.; Maris, John M.; Auvil, Jamie M Guidry; Smith, Malcolm A; Kolaczyk, Eric D; Shohet, Jason; Khan, Javed

2016-01-01

The molecular mechanisms underlying the aggressive behavior of MYCN driven neuroblastoma (NBL) is under intense investigation; however, little is known about the impact of this family of transcription factors on the splicing program. Here we used high-throughput RNA sequencing to systematically study the expression of RNA isoforms in stage 4 MYCN-amplified NBL, an aggressive subtype of metastatic NBL. We show that MYCN-amplified NBL tumors display a distinct gene splicing pattern affecting multiple cancer hallmark functions. Six splicing factors displayed unique differential expression patterns in MYCN-amplified tumors and cell lines, and the binding motifs for some of these splicing factors are significantly enriched in differentially-spliced genes. Direct binding of MYCN to promoter regions of the splicing factors PTBP1 and HNRNPA1 detected by ChIP-seq demonstrates MYCN controls the splicing pattern by direct regulation of the expression of these key splicing factors. Furthermore, high expression of PTBP1 and HNRNPA1 was significantly associated with poor overall survival of stage4 NBL patients (p≤0.05). Knocking down PTBP1, HNRNPA1 and their downstream target PKM2, an isoform of pro-tumor-growth, result in repressed growth of NBL cells. Therefore, our study reveals a novel role of MYCN in controlling global splicing program through regulation of splicing factors in addition to its well-known role in the transcription program. These findings suggest a therapeutically potential to target the key splicing factors or gene isoforms in high-risk NBL with MYCN-amplification. PMID:26683771

WT1 isoform expression pattern in acute myeloid leukemia.

PubMed

Luna, Irene; Such, Esperanza; Cervera, Jose; Barragán, Eva; Ibañez, Mariam; Gómez-Seguí, Inés; López-Pavía, María; Llop, Marta; Fuster, Oscar; Dolz, Sandra; Oltra, Silvestre; Alonso, Carmen; Vera, Belén; Lorenzo, Ignacio; Martínez-Cuadrón, David; Montesinos, Pau; Senent, M Leonor; Moscardó, Federico; Bolufer, Pascual; Sanz, Miguel A

2013-12-01

WT1 plays a dual role in leukemia development, probably due to an imbalance in the expression of the 4 main WT1 isoforms. We quantify their expression and evaluate them in a series of AML patients. Our data showed a predominant expression of isoform D in AML, although in a lower quantity than in normal CD34+ cells. We found a positive correlation between the total WT1 expression and A, B and C isoforms. The overexpression of WT1 in AML might be due to a relative increase in A, B and C isoforms, together with a relative decrease in isoform D expression. Copyright © 2013 Elsevier Ltd. All rights reserved.

20-Hydroxyecdysone (20E) Primary Response Gene E75 Isoforms Mediate Steroidogenesis Autoregulation and Regulate Developmental Timing in Bombyx*

PubMed Central

Li, Kang; Tian, Ling; Guo, Zhongjian; Guo, Sanyou; Zhang, Jianzhen; Gu, Shi-Hong; Palli, Subba R.; Cao, Yang; Li, Sheng

2016-01-01

The temporal control mechanisms that precisely control animal development remain largely elusive. The timing of major developmental transitions in insects, including molting and metamorphosis, is coordinated by the steroid hormone 20-hydroxyecdysone (20E). 20E involves feedback loops to maintain pulses of ecdysteroid biosynthesis leading to its upsurge, whereas the underpinning molecular mechanisms are not well understood. Using the silkworm Bombyx mori as a model, we demonstrated that E75, the 20E primary response gene, mediates a regulatory loop between ecdysteroid biosynthesis and 20E signaling. E75 isoforms A and C directly bind to retinoic acid receptor-related response elements in Halloween gene promoter regions to induce gene expression thus promoting ecdysteroid biosynthesis and developmental transition, whereas isoform B antagonizes the transcriptional activity of isoform A/C through physical interaction. As the expression of E75 isoforms is differentially induced by 20E, the E75-mediated regulatory loop represents a fine autoregulation of steroidogenesis, which contributes to the precise control of developmental timing. PMID:27365399

High Molecular Weight Isoforms of Growth Hormone In Cells of the Immune System

PubMed Central

Weigent, Douglas A.

2013-01-01

A substantial body of research exists to support the idea that cells of the immune system produce growth hormone (GH). However, the structure and mechanism of action of lymphocyte-derived GH continues to remain largely unknown. Here we present the results of Western analysis of whole cell extracts showing that different molecular weight isoforms of GH of approximately 100 kDa, 65 kDa, and 48 kDa can be detected in primary mouse cells of the immune system and in the mouse EL4 cell line. The identity of the 65 kDa and 48 kDa isoforms of GH were confirmed by mass spectrometry. The various isoforms were detected in both enriched T and B spleen cell populations. The large molecular weight isoform appears to reside primarily in the cytoplasm whereas the lower molecular weight 65 kDa and 48 kDa isoforms were detected primarily in the nucleus. These results also suggest that GH isoforms are induced by oxidative stress. In EL4 cells overexpressing GH, the expression of luciferase controlled by a promoter containing the antioxidant response element is increased almost three-fold above control. The data suggest that the induction of isoforms of the GH molecule in cells of the immune system may be an important mechanism of adaptation and/or protection of lymphoid cells under conditions of oxidative stress. PMID:21741628

The relationship between cisplatin resistance and histone deacetylase isoform overexpression in epithelial ovarian cancer cell lines

PubMed Central

Kim, Min-Gyun; Pak, Jhang Ho; Choi, Won Ho; Park, Jeong-Yeol; Nam, Joo-Hyun

2012-01-01

Objective To investigate the relationship between cisplatin resistance and histone deacetylase (HDAC) isoform overexpression in ovarian cancer cell lines. Methods Expression of four HDAC isoforms (HDAC 1, 2, 3, and 4) in two ovarian cancer cell lines, SKOV3 and OVCAR3, exposed to various concentrations of cisplatin was examined by western blot analyses. Cells were transfected with plasmid DNA of each HDAC. The overexpression of protein and mRNA of each HDAC was confirmed by western blot and reverse transcriptase-polymerase chain reaction analyses, respectively. The cell viability of the SKOV3 and OVCAR3 cells transfected with HDAC plasmid DNA was measured using the cell counting kit-8 assay after treatment with cisplatin. Results The 50% inhibitory concentration of the SKOV3 and OVCAR3 cells can be determined 15-24 hours after treatment with 15 µg/mL cisplatin. The expression level of acetylated histone 3 protein in SKOV3 cells increased after exposure to cisplatin. Compared with control cells at 24 hours after cisplatin exposure, the viability of SKOV3 cells overexpressing HDAC 1 and 3 increased by 15% and 13% (p<0.05), respectively. On the other hand, OVCAR3 cells that overexpressed HDAC 2 and 4 exhibited increased cell viability by 23% and 20% (p<0.05), respectively, compared with control cells 24 hours after exposure to cisplatin. Conclusion In SKOV3 and OVCAR3 epithelial ovarian cancer cell lines, the correlation between HDAC overexpression and cisplatin resistance was confirmed. However, the specific HDAC isoform associated with resistance to cisplatin varied depending on the ovarian cancer cell line. These results may suggest that each HDAC isoform conveys cisplatin resistance via different mechanisms. PMID:22808361

Virtual reality as a tool for improving spatial rotation among deaf and hard-of-hearing children.

PubMed

Passig, D; Eden, S

2001-12-01

The aim of this study was to investigate whether the practice of rotating Virtual Reality (VR) three-dimensional (3D) objects will enhance the spatial rotation thinking of deaf and hard-of-hearing children compared to the practice of rotating two-dimensional (2D) objects. Two groups were involved in this study: an experimental group, which included 21 deaf and hardof-hearing children, who played a VR 3D game, and a control group of 23 deaf and hard-of-hearing children, who played a similar 2D (not VR) game. The results clearly indicate that practicing with VR 3D spatial rotations significantly improved the children's performance of spatial rotation, which enhanced their ability to perform better in other intellectual skills as well as in their sign language skills.

Vocabulary Development: How Deaf Individuals Can Learn to Use the Information Given.

ERIC Educational Resources Information Center

Hirsh-Pasek, Kathy; Freyd, Pamela

To determine if people analyze words in online reading, an experiment was conducted with 12 congenitally deaf, second generation sign language users with a reading level of 6.64 on a standardized reading achievement test. The hearing controls included seventh and eighth grade students who were matched for reading level. Both groups were split in…

Attitudes toward Speech Disorders: Sampling the Views of Cantonese-Speaking Americans.

ERIC Educational Resources Information Center

Bebout, Linda; Arthur, Bradford

1997-01-01

A study of 60 Chinese Americans and 46 controls found the Chinese Americans were more likely to believe persons with speech disorders could improve speech by "trying hard," to view people using deaf speech and people with cleft palates as perhaps being emotionally disturbed, and to regard deaf speech as a limitation. (Author/CR)

Campus Community Partnerships with People Who Are Deaf or Hard-of-Hearing

ERIC Educational Resources Information Center

Matteson, Jamie; Kha, Christine K.; Hu, Diane J.; Cheng, Chih-Chieh; Saul, Lawrence; Sadler, Georgia Robins

2008-01-01

In 1997, the Moores University of California, San Diego (UCSD) Cancer Center and advocacy groups for people who are deaf and hard of hearing launched a highly hearing, successful cancer control collaborative. In 2006, faculty from the Computer Science Department at UCSD invited the collaborative to help develop a new track in their doctoral…

Strategic family therapy interventions with deaf member families.

PubMed

Sloman, L; Springer, S

1987-10-01

A deviance based model of deafness is compared with one based on ethnicity. The function of inadequate communication in deaf member families is explored. Techniques of intervention are examined with a focus on three strategic interventions namely: 1) circular interviewing; 2) positive connotation; and, 3) use of rituals. Case histories are provided.

FAMILY AND MENTAL HEALTH PROBLEMS IN A DEAF POPULATION.

ERIC Educational Resources Information Center

RAINER, JOHN D., ED.; AND OTHERS

THE FINAL REPORT OF THE MENTAL HEALTH PROJECT FOR THE DEAF IS PRESENTED. FOLLOWING AN EXPLANATION OF THE PROJECT AND ITS PROCEDURES AND AN HISTORICAL REVIEW OF SPECIAL EDUCATION AND MENTAL HEALTH SERVICES ARE REPORTS (BY INDIVIDUAL AUTHORS) OF THE RESEARCH PROGRAM WITHIN THE NEW YORK STATE DEAF POPULATION, THE REPORTS CONSIDER (1) METHODOLOGICAL…

Role of voltage-gated L-type Ca2+ channel isoforms for brain function.

PubMed

Striessnig, J; Koschak, A; Sinnegger-Brauns, M J; Hetzenauer, A; Nguyen, N K; Busquet, P; Pelster, G; Singewald, N

2006-11-01

Voltage-gated LTCCs (L-type Ca2+ channels) are established drug targets for the treatment of cardiovascular diseases. LTCCs are also expressed outside the cardiovascular system. In the brain, LTCCs control synaptic plasticity in neurons, and DHP (dihydropyridine) LTCC blockers such as nifedipine modulate brain function (such as fear memory extinction and depression-like behaviour). Voltage-sensitive Ca2+ channels Cav1 .2 and Cav1.3 are the predominant brain LTCCs. As DHPs and other classes of organic LTCC blockers inhibit both isoforms, their pharmacological distinction is impossible and their individual contributions to defined brain functions remain largely unknown. Here, we summarize our recent experiments with two genetically modified mouse strains, which we generated to explore the individual biophysical features of Cav1.2 and Cav1.3 LTCCs and to determine their relative contributions to various physiological peripheral and neuronal functions. The results described here also allow predictions about the pharmacotherapeutic potential of isoform-selective LTCC modulators.

Spirometric measurements and physical efficiency in children and adolescents with hearing and visual impairments.

PubMed

Zebrowska, A; Gawlik, K; Zwierzchowska, A

2007-11-01

The objective of the study was to investigate whether a sensory impairment has an effect on functional capabilities of the respiratory system and whether possible deviations from reference ranges of selected parameters might indicate a decrease of physical efficiency. Vital capacity (VC), forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), peak expiratory flow (PEF), forced expiratory flow of 25-75% (FEF25-75), maximum voluntary volume (MVV), and maximum oxygen uptake VO2 max were measured in 86 deaf and 102 blind children and adolescents, and in a matched group of hearing controls. We found a significant influence of deafness on PEF (P<0.01), FEF25-75 (P<0.05), and MVV (P<0.05). As compared with the control subjects, mean VC was significantly lower in blind adolescents (P<0.05). Our results seem to suggest that both sensory defects during childhood and adolescence affect functional capabilities of the respiratory system.

Monaural Congenital Deafness Affects Aural Dominance and Degrades Binaural Processing

PubMed Central

Tillein, Jochen; Hubka, Peter; Kral, Andrej

2016-01-01

Cortical development extensively depends on sensory experience. Effects of congenital monaural and binaural deafness on cortical aural dominance and representation of binaural cues were investigated in the present study. We used an animal model that precisely mimics the clinical scenario of unilateral cochlear implantation in an individual with single-sided congenital deafness. Multiunit responses in cortical field A1 to cochlear implant stimulation were studied in normal-hearing cats, bilaterally congenitally deaf cats (CDCs), and unilaterally deaf cats (uCDCs). Binaural deafness reduced cortical responsiveness and decreased response thresholds and dynamic range. In contrast to CDCs, in uCDCs, cortical responsiveness was not reduced, but hemispheric-specific reorganization of aural dominance and binaural interactions were observed. Deafness led to a substantial drop in binaural facilitation in CDCs and uCDCs, demonstrating the inevitable role of experience for a binaural benefit. Sensitivity to interaural time differences was more reduced in uCDCs than in CDCs, particularly at the hemisphere ipsilateral to the hearing ear. Compared with binaural deafness, unilateral hearing prevented nonspecific reduction in cortical responsiveness, but extensively reorganized aural dominance and binaural responses. The deaf ear remained coupled with the cortex in uCDCs, demonstrating a significant difference to deprivation amblyopia in the visual system. PMID:26803166

Monaural Congenital Deafness Affects Aural Dominance and Degrades Binaural Processing.

PubMed

Tillein, Jochen; Hubka, Peter; Kral, Andrej

2016-04-01

Cortical development extensively depends on sensory experience. Effects of congenital monaural and binaural deafness on cortical aural dominance and representation of binaural cues were investigated in the present study. We used an animal model that precisely mimics the clinical scenario of unilateral cochlear implantation in an individual with single-sided congenital deafness. Multiunit responses in cortical field A1 to cochlear implant stimulation were studied in normal-hearing cats, bilaterally congenitally deaf cats (CDCs), and unilaterally deaf cats (uCDCs). Binaural deafness reduced cortical responsiveness and decreased response thresholds and dynamic range. In contrast to CDCs, in uCDCs, cortical responsiveness was not reduced, but hemispheric-specific reorganization of aural dominance and binaural interactions were observed. Deafness led to a substantial drop in binaural facilitation in CDCs and uCDCs, demonstrating the inevitable role of experience for a binaural benefit. Sensitivity to interaural time differences was more reduced in uCDCs than in CDCs, particularly at the hemisphere ipsilateral to the hearing ear. Compared with binaural deafness, unilateral hearing prevented nonspecific reduction in cortical responsiveness, but extensively reorganized aural dominance and binaural responses. The deaf ear remained coupled with the cortex in uCDCs, demonstrating a significant difference to deprivation amblyopia in the visual system. © The Author 2016. Published by Oxford University Press.

Disturbed expression of type 1 iodothyronine deiodinase splice variants in human renal cancer.

PubMed

Piekielko-Witkowska, Agnieszka; Master, Adam; Wojcicka, Anna; Boguslawska, Joanna; Brozda, Izabela; Tanski, Zbigniew; Nauman, Alicja

2009-10-01

Alternative splicing, one of the sources of protein diversity, is often disturbed in cancer. Type 1 iodothyronine deiodinase (DIO1) catalyzes deiodination of thyroxine generating triiodothyronine, an important regulator of cell proliferation and differentiation. The expression of DIO1 is disturbed in different types of cancer. The aim of the study was to analyze the alternative splicing of DIO1 and its possible disturbance in renal cancer. Using real-time PCR, we analyzed 19 tissue samples (T) of renal cancer and 19 matched control samples (C) of the opposite pole of the kidney, not infiltrated by tumor, and 6 control samples (N) (nonneoplastic kidney abnormalities). Cloning of DIO1 mRNA isoforms revealed 11 different transcripts, among them 7 new splice variants, not previously reported. The expression of all variants of DIO1 was dramatically (>90%) and significantly (p < or = 0.0003) lowered in samples T compared to control samples C. The ratio of mRNA isoforms encoding DIO1 protein variants possessing or lacking the active center was lowered in samples T compared with control samples C, suggesting disturbed alternative splicing of DIO1. The expression of mRNA of splicing factors SF2/ASF (splicing factor-2/alternative-splicing factor) and hnRNPA1 (heterogeneous ribonucleoprotein A1), regulating 5'-splice site selection, was significantly but not proportionally lowered in samples T compared to samples C. The mRNA ratio of splicing factors SF2/ASF and hnRNPA1 correlated with the ratio of mRNA isoforms encoding DIO1 protein variants possessing or lacking the active center in controls C but not in samples T. Our results show that the expression and alternative splicing of DIO1 mRNA is disturbed in renal cancer, possibly due to changes in expression of splicing factors SF2/ASF and hnRNPA1.

Merlin Isoforms 1 and 2 Both Act as Tumour Suppressors and Are Required for Optimal Sperm Maturation

PubMed Central

Zoch, Ansgar; Mayerl, Steffen; Schulz, Alexander; Greither, Thomas; Frappart, Lucien; Rübsam, Juliane; Heuer, Heike; Giovannini, Marco; Morrison, Helen

2015-01-01

The tumour suppressor Merlin, encoded by the gene NF2, is frequently mutated in the autosomal dominant disorder neurofibromatosis type II, characterised primarily by the development of schwannoma and other glial cell tumours. However, NF2 is expressed in virtually all analysed human and rodent organs, and its deletion in mice causes early embryonic lethality. Additionally, NF2 encodes for two major isoforms of Merlin of unknown functionality. Specifically, the tumour suppressor potential of isoform 2 remains controversial. In this study, we used Nf2 isoform-specific knockout mouse models to analyse the function of each isoform during development and organ homeostasis. We found that both isoforms carry full tumour suppressor functionality and can completely compensate the loss of the other isoform during development and in most adult organs. Surprisingly, we discovered that spermatogenesis is strictly dependent on the presence of both isoforms. While the testis primarily expresses isoform 1, we noticed an enrichment of isoform 2 in spermatogonial stem cells. Deletion of either isoform was found to cause decreased sperm quality as observed by maturation defects and head/midpiece abnormalities. These defects led to impaired sperm functionality as assessed by decreased sperm capacitation. Thus, we describe spermatogenesis as a new Nf2-dependent process. Additionally, we provide for the first time in vivo evidence for equal tumour suppressor potentials of Merlin isoform 1 and isoform 2. PMID:26258444

NHS-A isoform of the NHS gene is a novel interactor of ZO-1.

PubMed

Sharma, Shiwani; Koh, Katrina S Y; Collin, Caitlin; Dave, Alpana; McMellon, Amy; Sugiyama, Yuki; McAvoy, John W; Voss, Anne K; Gécz, Jozef; Craig, Jamie E

2009-08-15

Mutations in the NHS (Nance-Horan Syndrome) gene lead to severe congenital cataracts, dental defects and sometimes mental retardation. NHS encodes two protein isoforms, NHS-A and -1A that display cell-type dependent differential expression and localization. Here we demonstrate that of these two isoforms, the NHS-A isoform associates with the cell membrane in the presence of intercellular contacts and it immunoprecipitates with the tight junction protein ZO-1 in MDCK (Madin Darby Canine Kidney) epithelial cells and in neonatal rat lens. The NHS-1A isoform however is a cytoplasmic protein. Both Nhs isoforms are expressed during mouse development. Immunolabelling of developing mouse with the anti-NHS antibody that detects both isoforms revealed the protein in the developing head including the eye and brain. It was primarily expressed in epithelium including neural epithelium and certain vascular endothelium but only weakly expressed in mesenchymal cells. In the epithelium and vascular endothelium the protein associated with the cell membrane and co-localized with ZO-1, which indirectly indicates expression of the Nhs-A isoform in these structures. Membrane localization of the protein in the lens vesicle similarly supports Nhs-A expression. In conclusion, the NHS-A isoform of NHS is a novel interactor of ZO-1 and may have a role at tight junctions. This isoform is important in mammalian development especially of the organs in the head.

Pregnancy Outcomes Among Deaf Women in Washington State, 1987-2012.

PubMed

Schiff, Melissa A; Doody, David R; Crane, Deborah A; Mueller, Beth A

2017-11-01

To evaluate pregnancy and neonatal outcomes among deaf women using population-based vital records data in Washington State from 1987 to 2012. We performed a retrospective cohort study using the Washington State birth and fetal death records linked to state hospital discharge records to identify women with diagnosis codes for deafness indicated at their delivery hospitalization and compared them with randomly selected women without these codes. Pregnancy conditions and outcomes evaluated included gestational diabetes, preeclampsia, placental abruption, labor induction, and cesarean delivery. Neonatal outcomes evaluated included preterm gestational age (less than 28, 28 to less than 37 weeks) at delivery and low birth weight. We also assessed length of maternal and neonatal delivery hospitalization. We performed Poisson regression to estimate relative risks (RRs) and 95% CIs for each outcome, adjusting for birth year, maternal age, and parity. Most adverse pregnancy and neonatal outcomes were similar for deaf and comparison women. Among women who underwent vaginal delivery, deaf women were more than twofold (RR 2.15, 95% CI 1.43-3.22) more likely to have a delivery hospitalization of 4 or more days (6.0% compared with 2.8%). We found a modestly increased risk of cesarean delivery (RR 1.15, 95% CI 1.01-1.30), with 29.9% of deaf compared with 25.6% of nondeaf women having a cesarean delivery. Deaf women are not at increased risk of the majority of adverse pregnancy and neonatal outcomes. Obstetric care providers may use our findings in counseling this special population of prenatal patients.

Tumorigenic properties of alternative osteopontin isoforms in mesothelioma

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ivanov, Sergey V., E-mail: Sergey.Ivanov@med.nyu.edu; Ivanova, Alla V.; Goparaju, Chandra M.V.

2009-05-08

Osteopontin (SPP1) is an inflammatory cytokine that we previously characterized as a diagnostic marker in patients with asbestos-induced malignant mesothelioma (MM). While SPP1 shows both pro- and anti-tumorigenic biological effects, little is known about the molecular basis of these activities. In this study, we demonstrate that while healthy pleura possesses all three differentially spliced SPP1 isoforms (A-C), in clinical MM specimens isoform A is markedly up-regulated and predominant. To provide a clue to possible functions of the SPP1 isoforms we next performed their functional evaluation via transient expression in MM cell lines. As a result, we report that isoforms A-Cmore » demonstrate different activities in cell proliferation, wound closure, and invasion assays. These findings suggest different functions for SPP1 isoforms and underline pro-tumorigenic properties of isoforms A and B.« less

Pyruvate kinase M knockdown-induced signaling via AMP-activated protein kinase promotes mitochondrial biogenesis, autophagy, and cancer cell survival.

PubMed

Prakasam, Gopinath; Singh, Rajnish Kumar; Iqbal, Mohammad Askandar; Saini, Sunil Kumar; Tiku, Ashu Bhan; Bamezai, Rameshwar N K

2017-09-15

Preferential expression of the low-activity (dimeric) M2 isoform of pyruvate kinase (PK) over its constitutively active splice variant M1 isoform is considered critical for aerobic glycolysis in cancer cells. However, our results reported here indicate co-expression of PKM1 and PKM2 and their possible physical interaction in cancer cells. We show that knockdown of either PKM1 or PKM2 differentially affects net PK activity, viability, and cellular ATP levels of the lung carcinoma cell lines H1299 and A549. The stable knockdown of PK isoforms in A549 cells significantly reduced the cellular ATP level, whereas in H1299 cells the level of ATP was unaltered. Interestingly, the PKM1/2 knockdown in H1299 cells activated AMP-activated protein kinase (AMPK) signaling and stimulated mitochondrial biogenesis and autophagy to maintain energy homeostasis. In contrast, knocking down either of the PKM isoforms in A549 cells lacking LKB1, a serine/threonine protein kinase upstream of AMPK, failed to activate AMPK and sustain energy homeostasis and resulted in apoptosis. Moreover, in a similar genetic background of silenced PKM1 or PKM2, the knocking down of AMPKα1/2 catalytic subunit in H1299 cells induced apoptosis. Our findings help explain why previous targeting of PKM2 in cancer cells to control tumor growth has not met with the expected success. We suggest that this lack of success is because of AMPK-mediated energy metabolism rewiring, protecting cancer cell viability. On the basis of our observations, we propose an alternative therapeutic strategy of silencing either of the PKM isoforms along with AMPK in tumors. © 2017 by The American Society for Biochemistry and Molecular Biology, Inc.

[Variational structure and function of products from IGF-1 gene].

PubMed

Zhang, Bing-Bing; Wang, Yuan-Liang; Fan, Kai

2008-07-01

The IGF-1 gene, containing six exons, is characterized by the generation of multiple heterogeneous mRNA transcripts and translations. The IGF-1 isoforms being produced arise from the combination of multiple transcription initiation sites, alternate splicing, and different polyadenylation signals. These different mRNAs are translated to distinct circulating and local isoforms. The circulating mature IGF-1 is encoded by exons 3 and 4, and its biological function in growth and development has been intensively studied. The local isoforms of IGF-1 contains the part encoded by exons 3 and 4, and moreover the alternate extension peptide at carboxy-terminal, encoded by exons 5 and 6, is also included in the isoforms. And the functions of local IGF-1 isoforms and E-peptides have been overlooked until recently. Recently investigation shows that cell discrepant response to the overexpression of different IGF-1 isoforms and the E-peptides, and more interestingly, IGF-1Ea, IGF-1Eb (MGF) and MGF E-peptide have potential to promote skeletal muscle regeneration, to prevent cardiac muscle loss and neural damage. The acting mechanism of IGF-1 isoforms differ from the IGF-1, and the isoforms functioned probably by binding to specific E-peptide receptor, instead of binding to the IGF-1R.

CIITA promoter I CARD-deficient mice express functional MHC class II genes in myeloid and lymphoid compartments.

PubMed

Zinzow-Kramer, W M; Long, A B; Youngblood, B A; Rosenthal, K M; Butler, R; Mohammed, A-U-R; Skountzou, I; Ahmed, R; Evavold, B D; Boss, J M

2012-06-01

Three distinct promoters control the master regulator of major histocompatibility complex (MHC) class II expression, class II transactivator (CIITA), in a cell type-specific manner. Promoter I (pI) CIITA, expressed primarily by dendritic cells (DCs) and macrophages, expresses a unique isoform that contains a caspase-recruitment domain (CARD). The activity and function of this isoform are not understood, but are believed to enhance the function of CIITA in antigen-presenting cells. To determine whether isoform I of CIITA has specific functions, CIITA mutant mice were created in which isoform I was replaced with isoform III sequences. Mice in which pI and the CARD-encoding exon were deleted were also created. No defect in the formation of CD4 T cells, the ability to respond to a model antigen or bacterial or viral challenge was observed in mice lacking CIITA isoform I. Although CIITA and MHC-II expression was decreased in splenic DCs, pI knockout animals expressed CIITA from downstream promoters, suggesting that control of pI activity is mediated by unknown distal elements that could act at pIII, the B-cell promoter. Thus, no critical function is linked to the CARD domain of CIITA isoform I with respect to basic immune system development, function and challenge.

Convergent and divergent functional connectivity patterns in patients with long-term left-sided and right-sided deafness.

PubMed

Zhang, Yanyang; Mao, Zhiqi; Feng, Shiyu; Wang, Wenxin; Zhang, Jun; Yu, Xinguang

2018-02-05

Cortical reorganization may be induced in long-term single-sided deafness (SD); however, the influence of the deafness side on the functional changes remains poorly understood. Here, we investigated whole-brain functional connectivity patterns in long-term SD patients. The normalized voxel-based functional connectivity strength (FCS) was determined using resting-state fMRI (rs-fMRI) in 17 left-sided deafness (LD) patients, 21 right-sided deafness (RD) patients and 21 healthy controls (HCs). Relative to the HCs, both the LD and RD patients exhibited a reduction in the FCS in the ipsilateral visual cortex. However, compared to that in the HCs, a significantly higher FCS was observed in some regions in the salience and default-mode networks in the RD patients, but this FCS alternation pattern was not observed in the LD patients. A direct comparison of the two patient groups revealed a significantly increased FCS in the supplemental motor area in the LD group. Altogether, the long-term SD groups with LD and RD exhibited convergent and divergent functional connectivity patterns in whole-brain networks, providing promising evidence that the functional changes in long-term SD are highly deafness-side-dependent. Copyright © 2017 Elsevier B.V. All rights reserved.

Semantic categorization: a comparison between deaf and hearing children.

PubMed

Ormel, Ellen A; Gijsel, Martine A R; Hermans, Daan; Bosman, Anna M T; Knoors, Harry; Verhoeven, Ludo

2010-01-01

Learning to read is a major obstacle for children who are deaf. The otherwise significant role of phonology is often limited as a result of hearing loss. However, semantic knowledge may facilitate reading comprehension. One important aspect of semantic knowledge concerns semantic categorization. In the present study, the quality of the semantic categorization of both deaf and hearing children was examined for written words and pictures at two categorization levels. The deaf children performed better at the picture condition compared to the written word condition, while the hearing children performed similarly at pictures and written words. The hearing children outperformed the deaf children, in particular for written words. In addition, the results of the deaf children for the written words correlated to their sign vocabulary and sign language comprehension. The increase in semantic categorization was limited across elementary school grade levels. Readers will be able to: (1) understand several semantic categorization differences between groups of deaf and hearing children; (2) describe factors that may affect the development of semantic categorization, in particular the relationship between sign language skills and semantic categorization for deaf children. Copyright 2010 Elsevier Inc. All rights reserved.

Development of Communication Assistive Technology for Persons with Deaf-Blindness and Physical Limitation.

PubMed

Hatakeyama, Takuro; Watanabe, Takashi; Takahashi, Kiriko; Doi, Kouki; Fukuda, Akiko

2015-01-01

The purpose of this study was to develop a system that will provide communication assistance to persons with deaf-blindness and physical limitation, so that they will be able to communicate with others without the help of an interpreter. With this communication system, a person with deaf-blindness and physical limitation uses a control switch to perform input operations based on the duration of the operating time and combination of long and short pulses. When the input is correctly performed, the user receives a feedback from the tablet computer as vibratory stimuli. Similarly, the message that other person's input with a Bluetooth keyboard is transmitted to the user as vibration stimuli. Following the development, we conducted a one-year assessment of the developed communication system in an actual environment with the cooperation of one person with deaf-blindness and physical limitation. . We confirmed that our developed system was useful for such a person, and understood that we must improve upon several aspects. We shall pursue further study, and will aim at providing a better communication environment for persons with deaf-blindness and physical limitation in future.

Madm (Mlf1 adapter molecule) cooperates with Bunched A to promote growth in Drosophila.

PubMed

Gluderer, Silvia; Brunner, Erich; Germann, Markus; Jovaisaite, Virginija; Li, Changqing; Rentsch, Cyrill A; Hafen, Ernst; Stocker, Hugo

2010-01-01

The TSC-22 domain family (TSC22DF) consists of putative transcription factors harboring a DNA-binding TSC-box and an adjacent leucine zipper at their carboxyl termini. Both short and long TSC22DF isoforms are conserved from flies to humans. Whereas the short isoforms include the tumor suppressor TSC-22 (Transforming growth factor-beta1 stimulated clone-22), the long isoforms are largely uncharacterized. In Drosophila, the long isoform Bunched A (BunA) acts as a growth promoter, but how BunA controls growth has remained obscure. In order to test for functional conservation among TSC22DF members, we expressed the human TSC22DF proteins in the fly and found that all long isoforms can replace BunA function. Furthermore, we combined a proteomics-based approach with a genetic screen to identify proteins that interact with BunA. Madm (Mlf1 adapter molecule) physically associates with BunA via a conserved motif that is only contained in long TSC22DF proteins. Moreover, Drosophila Madm acts as a growth-promoting gene that displays growth phenotypes strikingly similar to bunA phenotypes. When overexpressed, Madm and BunA synergize to increase organ growth. The growth-promoting potential of long TSC22DF proteins is evolutionarily conserved. Furthermore, we provide biochemical and genetic evidence for a growth-regulating complex involving the long TSC22DF protein BunA and the adapter molecule Madm.

The Schizophrenia-Associated Kv11.1-3.1 Isoform Results in Reduced Current Accumulation during Repetitive Brief Depolarizations

PubMed Central

Heide, Juliane; Mann, Stefan A.; Vandenberg, Jamie I.

2012-01-01

Recent genome wide association studies identified a brain and primate specific isoform of a voltage-gated potassium channel, referred to as Kv11.1-3.1, which is significantly associated with schizophrenia. The 3.1 isoform replaces the first 102 amino acids of the most abundant isoform (referred to as Kv11.1-1A) with six unique amino acids. Here we show that the Kv11.1-3.1 isoform has faster rates of channel deactivation but a slowing of the rates of inactivation compared to the Kv11.1-1A isoform. The Kv11.1-3.1 isoform also has a significant depolarizing shift in the voltage-dependence of steady-state inactivation. The consequence of the altered gating kinetics is that there is lower current accumulation for Kv11.1-3.1 expressing cells during repetitive action potential firing compared to Kv11.1-1A expressing cells, which in turn will result in longer lasting trains of action potentials. Increased expression of Kv11.1-3.1 channels in the brain of schizophrenia patients might therefore contribute to disorganized neuronal firing. PMID:23029143

A proton pump ATPase with testis-specific E1-subunit isoform required for acrosome acidification.

PubMed

Sun-Wada, Ge-Hong; Imai-Senga, Yoko; Yamamoto, Akitsugu; Murata, Yoshiko; Hirata, Tomoyuki; Wada, Yoh; Futai, Masamitsu

2002-05-17

The vacuolar-type H(+)-ATPases (V-ATPases) are a family of multimeric proton pumps involved in a wide variety of physiological processes. We have identified two novel mouse genes, Atp6e1 and Atp6e2, encoding testis-specific (E1) and ubiquitous (E2) V-ATPase subunit E isoforms, respectively. The E1 transcript appears about 3 weeks after birth, corresponding to the start of meiosis, and is expressed specifically in round spermatids in seminiferous tubules. Immunohistochemistry with isoform-specific antibodies revealed that the V-ATPase with E1 and a2 isoforms is located specifically in developing acrosomes of spermatids and acrosomes in mature sperm. In contrast, the E2 isoform was expressed in all tissues examined and present in the perinuclear compartments of spermatocytes. The E1 isoform exhibits 70% identity with the E2, and both isoforms functionally complemented a null mutation of the yeast counterpart VMA4, indicating that they are bona fide V-ATPase subunits. The chimeric enzymes showed slightly lower K(m)(ATP) than yeast V-ATPase. Consistent with the temperature-sensitive growth of Deltavma4-expressing E1 isoform, vacuolar membrane vesicles exhibited temperature-sensitive coupling between ATP hydrolysis and proton transport. These results suggest that E1 isoform is essential for energy coupling involved in acidification of acrosome.

Impact of Communication on Preventive Services Among Deaf American Sign Language Users

PubMed Central

McKee, Michael M.; Barnett, Steve L.; Block, Robert C.; Pearson, Thomas A.

2011-01-01

Background Deaf American Sign Language (ASL) users face communication and language barriers that limit healthcare communication with their providers. Prior research has not examined preventive services with ASL-skilled clinicians. Purpose The goal of this study was to determine whether provider language concordance is associated with improved receipt of preventive services among deaf respondents. Methods This cross-sectional study included 89 deaf respondents aged 50–75 years from the Deaf Health Survey (2008), a BRFSS survey adapted for use with deaf ASL users. Association between the respondent's communication method with the provider (i.e., categorized as either concordant–doctor signs or discordant–other) and preventive services use was assessed using logistic regression adjusting for race, gender, income, health status, health insurance, and education. Analyses were conducted in 2010. Results Deaf respondents who reported having a concordant provider were more likely to report a greater number of preventive services (OR 3.42; 95% CI:1.31, 8.93; p=0.0122) when compared to deaf respondents who reported having a discordant provider even after adjusting for race, gender, income, health status, health insurance, and education. In unadjusted analyses, deaf respondents who reported having a concordant provider were more likely to receive an influenza vaccination in the past year (OR 4.55; p=0.016) when compared to respondents who had a discordant provider. Conclusions Language-concordant patient–provider communication is associated with higher appropriate use of preventive services by deaf ASL users. PMID:21665066

Conceptual Model for Quality of Life among Adults With Congenital or Early Deafness

PubMed Central

Kushalnagar, P; McKee, M; Smith, SR; Hopper, M; Kavin, D; Atcherson, SR

2015-01-01

Background A conceptual model of health-related quality of life (QoL) is needed to describe key themes that impact perceived QoL in adults with congenital or early deafness. Objective: To revise University of Washington Center for Disability Policy and Research's conceptual model of health promotion and QoL, with suggestions for applying the model to improving programs or services that target deaf adults with early deafness. Methods Purposive and theoretical sampling of 35 adults who were born or became deaf early was planned in a 1-year study. In-depth semi-structured interviews probed deaf adult participants' perceptions about quality of life as a deaf individual. Data saturation was reached at the 17th interview with 2 additional interviews for validation, resulting in a total sample of 19 deaf adults. Coding and thematic analysis were conducted to develop the conceptual model. Results Our conceptual model delineates the relationships between health status (self-acceptance, coping with limitations), intrinsic (functional communication skills, navigating barriers/self-advocacy, resilience) and extrinsic (acceptance by others, access to information, educating others) factors in their influence on deaf adult quality of life outcomes at home, college, work, and in the community. Conclusions Findings demonstrate the need for the programs and services to consider not only factors intrinsic to the deaf individual but also extrinsic factors in enhancing perceived quality of life outcomes among people with a range of functional hearing and language preferences, including American Sign Language. PMID:24947577

Conceptual model for quality of life among adults with congenital or early deafness.

PubMed

Kushalnagar, Poorna; McKee, Michael; Smith, Scott R; Hopper, Melinda; Kavin, Denise; Atcherson, Samuel R

2014-07-01

A conceptual model of health-related quality of life (QoL) is needed to describe key themes that impact perceived QoL in adults with congenital or early deafness. To revise University of Washington Center for Disability Policy and Research's conceptual model of health promotion and QoL, with suggestions for applying the model to improving programs or services that target deaf adults with early deafness. Purposive and theoretical sampling of 35 adults who were born or became deaf early was planned in a 1-year study. In-depth semi-structured interviews probed deaf adult participants' perceptions about quality of life as a deaf individual. Data saturation was reached at the 17th interview with 2 additional interviews for validation, resulting in a total sample of 19 deaf adults. Coding and thematic analysis were conducted to develop the conceptual model. Our conceptual model delineates the relationships between health status (self-acceptance, coping with limitations), intrinsic (functional communication skills, navigating barriers/self-advocacy, resilience) and extrinsic (acceptance by others, access to information, educating others) factors in their influence on deaf adult quality of life outcomes at home, college, work, and in the community. Findings demonstrate the need for the programs and services to consider not only factors intrinsic to the deaf individual but also extrinsic factors in enhancing perceived quality of life outcomes among people with a range of functional hearing and language preferences, including American Sign Language. Copyright © 2014 Elsevier Inc. All rights reserved.

The membrane-topogenic vectorial behaviour of Nrf1 controls its post-translational modification and transactivation activity.

PubMed

Zhang, Yiguo; Hayes, John D

2013-01-01

The integral membrane-bound Nrf1 transcription factor fulfils important functions in maintaining cellular homeostasis and organ integrity, but how it is controlled vectorially is unknown. Herein, creative use of Gal4-based reporter assays with protease protection assays (GRAPPA), and double fluorescence protease protection (dFPP), reveals that the membrane-topogenic vectorial behaviour of Nrf1 dictates its post-translational modification and transactivation activity. Nrf1 is integrated within endoplasmic reticulum (ER) membranes through its NHB1-associated TM1 in cooperation with other semihydrophobic amphipathic regions. The transactivation domains (TADs) of Nrf1, including its Asn/Ser/Thr-rich (NST) glycodomain, are transiently translocated into the ER lumen, where it is glycosylated in the presence of glucose to become a 120-kDa isoform. Thereafter, the NST-adjoining TADs are partially repartitioned out of membranes into the cyto/nucleoplasmic side, where Nrf1 is subject to deglycosylation and/or proteolysis to generate 95-kDa and 85-kDa isoforms. Therefore, the vectorial process of Nrf1 controls its target gene expression.

The Effect of Task in Deaf Readers' Graphophonological Processes: A Longitudinal Study

ERIC Educational Resources Information Center

Daigle, Daniel; Berthiaume, Rachel; Demont, Elisabeth

2012-01-01

This article reports on an investigation of graphophonological processes in deaf readers of French over a 1-year period. Deaf readers are known to have a phonological deficit compared to hearing peers, and conclusions from studies on this question are often conflicting. Among the different types of phonological processing, we can identify…

Creative Language Abilities of Deaf Children. Research Bulletin #1.

ERIC Educational Resources Information Center

Marschark, Marc; West, Sue A.

Flexibility and creativity in the language of deaf children were investigated by requesting four deaf and four hearing youths to generate stories on themes supplied by an experimenter. One theme concerned finding a new civilization in the center of the earth; the other centered on awakening one day to discover that animals and people had changed…

What Is Different about Deaf Education? The Effects of Child and Family Factors on Educational Services

ERIC Educational Resources Information Center

Luft, Pamela

2017-01-01

Deaf education is characterized by several distinctive aspects, beginning with qualities unique to deaf and hard-of-hearing (DHH) children and their families. Consisting of approximately 1.2% of the special education K-12 population, educational and disability systems often struggle to meet the unique challenges that these children and their…

Deaf Leadership Training for Community Interaction. A Manual for "Grassroots" Leadership.

ERIC Educational Resources Information Center

Petersen, Eugene W., Ed.

This manual is the outgrowth of a workshop sponsored by the National Association of the Deaf in 1969 to develop guidelines on deaf leadership training for community interaction. The manual contains: (1) "A Welcome and a Challenge" by Robert L. Lankenau; (2) "The Critical Need for Leadership" by Don G. Pettingill; (3) "The National Census--A…

Longitudinal Receptive American Sign Language Skills Across a Diverse Deaf Student Body

PubMed Central

2016-01-01

This article presents results of a longitudinal study of receptive American Sign Language (ASL) skills for a large portion of the student body at a residential school for the deaf across four consecutive years. Scores were analyzed by age, gender, parental hearing status, years attending the residential school, and presence of a disability (i.e., deaf with a disability). Years 1 through 4 included the ASL Receptive Skills Test (ASL-RST); Years 2 through 4 also included the Receptive Test of ASL (RT-ASL). Student performance for both measures positively correlated with age; deaf students with deaf parents scored higher than their same-age peers with hearing parents in some instances but not others; and those with a documented disability tended to score lower than their peers without disabilities. These results provide longitudinal findings across a diverse segment of the deaf/hard of hearing residential school population. PMID:26864689

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

PubMed

Schultz, Julie M; Bhatti, Rashid; Madeo, Anne C; Turriff, Amy; Muskett, Julie A; Zalewski, Christopher K; King, Kelly A; Ahmed, Zubair M; Riazuddin, Saima; Ahmad, Nazir; Hussain, Zawar; Qasim, Muhammad; Kahn, Shaheen N; Meltzer, Meira R; Liu, Xue Z; Munisamy, Murali; Ghosh, Manju; Rehm, Heidi L; Tsilou, Ekaterini T; Griffith, Andrew J; Zein, Wadih M; Brewer, Carmen C; Riazuddin, Sheikh; Friedman, Thomas B

2011-11-01

Recessive mutant alleles of MYO7A, USH1C, CDH23, and PCDH15 cause non-syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness, vestibular areflexia, and vision loss due to retinitis pigmentosa. For CDH23, encoding cadherin 23, non-syndromic DFNB12 deafness is associated primarily with missense mutations hypothesised to have residual function. In contrast, homozygous nonsense, frame shift, splice site, and some missense mutations of CDH23, all of which are presumably functional null alleles, cause USH1D. The phenotype of a CDH23 compound heterozygote for a DFNB12 allele in trans configuration to an USH1D allele is not known and cannot be predicted from current understanding of cadherin 23 function in the retina and vestibular labyrinth. To address this issue, this study sought CDH23 compound heterozygotes by sequencing this gene in USH1 probands, and families segregating USH1D or DFNB12. Five non-syndromic deaf individuals were identified with normal retinal and vestibular phenotypes that segregate compound heterozygous mutations of CDH23, where one mutation is a known or predicted USH1 allele. One DFNB12 allele in trans configuration to an USH1D allele of CDH23 preserves vision and balance in deaf individuals, indicating that the DFNB12 allele is phenotypically dominant to an USH1D allele. This finding has implications for genetic counselling and the development of therapies for retinitis pigmentosa in Usher syndrome. ACCESSION NUMBERS: The cDNA and protein Genbank accession numbers for CDH23 and cadherin 23 used in this paper are AY010111.2 and AAG27034.2, respectively.

The novel protein kinase C epsilon isoform modulates acetylcholine release in the rat neuromuscular junction.

PubMed

Obis, Teresa; Hurtado, Erica; Nadal, Laura; Tomàs, Marta; Priego, Mercedes; Simon, Anna; Garcia, Neus; Santafe, Manel M; Lanuza, Maria A; Tomàs, Josep

2015-12-01

Various protein kinase C (PKC) isoforms contribute to the phosphorylating activity that modulates neurotransmitter release. In previous studies we showed that nPKCε is confined in the presynaptic site of the neuromuscular junction and its presynaptic function is activity-dependent. Furthermore, nPKCε regulates phorbol ester-induced acetylcholine release potentiation, which further indicates that nPKCε is involved in neurotransmission. The present study is designed to examine the nPKCε involvement in transmitter release at the neuromuscular junction. We use the specific nPKCε translocation inhibitor peptide εV1-2 and electrophysiological experiments to investigate the involvement of this isoform in acetylcholine release. We observed that nPKCε membrane translocation is key to the synaptic potentiation of NMJ, being involved in several conditions that upregulate PKC isoforms coupling to acetylcholine (ACh) release (incubation with high Ca(2+), stimulation with phorbol esters and protein kinase A, stimulation with adenosine 3',5'-cyclic monophosphorothioate, 8-Bromo-, Rp-isomer, sodium salt -Sp-8-BrcAMP-). In all these conditions, preincubation with the nPKCε translocation inhibitor peptide (εV1-2) impairs PKC coupling to acetylcholine release potentiation. In addition, the inhibition of nPKCε translocation and therefore its activity impedes that presynaptic muscarinic autoreceptors and adenosine autoreceptors modulate transmitter secretion. Together, these results point to the importance of nPKCε isoform in the control of acetylcholine release in the neuromuscular junction.

Deficits in Narrative Abilities in Child British Sign Language Users with Specific Language Impairment

ERIC Educational Resources Information Center

Herman, Ros; Rowley, Katherine; Mason, Kathryn; Morgan, Gary

2014-01-01

This study details the first ever investigation of narrative skills in a group of 17 deaf signing children who have been diagnosed with disorders in their British Sign Language development compared with a control group of 17 deaf child signers matched for age, gender, education, quantity, and quality of language exposure and non-verbal…

AN EVALUATION OF HIGH SCHOOL MATHEMATICS PROGRAMMED TEXTS WHEN USED WITH DEAF STUDENTS.

ERIC Educational Resources Information Center

BORNSTEIN, HARRY

A COMPARISON WAS MADE OF THE RATE AND LEVEL OF ACHIEVEMENT OF 150 DEAF STUDENTS RESULTING FROM THE USE OF PROGRAMED TEXTS AS AGAINST THE USUAL LECTURE METHODS IN HIGH SCHOOL MATHEMATICS. EACH OF FOUR MATHEMATICS TEACHERS HAD TWO COMPARABLE CLASSES. THE CONTROL GROUP RECEIVED INFORMATION BY SIMULTANEOUS LECTURE AND THE EXPERIMENTAL GROUPS USED THE…

Madm (Mlf1 adapter molecule) cooperates with Bunched A to promote growth in Drosophila

PubMed Central

2010-01-01

Background The TSC-22 domain family (TSC22DF) consists of putative transcription factors harboring a DNA-binding TSC-box and an adjacent leucine zipper at their carboxyl termini. Both short and long TSC22DF isoforms are conserved from flies to humans. Whereas the short isoforms include the tumor suppressor TSC-22 (Transforming growth factor-β1 stimulated clone-22), the long isoforms are largely uncharacterized. In Drosophila, the long isoform Bunched A (BunA) acts as a growth promoter, but how BunA controls growth has remained obscure. Results In order to test for functional conservation among TSC22DF members, we expressed the human TSC22DF proteins in the fly and found that all long isoforms can replace BunA function. Furthermore, we combined a proteomics-based approach with a genetic screen to identify proteins that interact with BunA. Madm (Mlf1 adapter molecule) physically associates with BunA via a conserved motif that is only contained in long TSC22DF proteins. Moreover, Drosophila Madm acts as a growth-promoting gene that displays growth phenotypes strikingly similar to bunA phenotypes. When overexpressed, Madm and BunA synergize to increase organ growth. Conclusions The growth-promoting potential of long TSC22DF proteins is evolutionarily conserved. Furthermore, we provide biochemical and genetic evidence for a growth-regulating complex involving the long TSC22DF protein BunA and the adapter molecule Madm. See minireview at http://jbiol.com/content/9/1/8. PMID:20149264

The nature and efficiency of the word reading strategies of orally raised deaf students.

PubMed

Miller, Paul

2009-01-01

The main objective of this study was to unveil similarities and differences in the word reading strategies of orally raised individuals with prelingual deafness and hearing individuals. Relevant data were gathered by a computerized research paradigm asking participants to make rapid same/different judgments for words. There were three distinct study conditions: (a) a visual condition manipulating the visual-perceptional properties of the target word pairs, (b) a phonological condition manipulating their phonological properties, and (c) a control condition. Participants were 31 high school and postgraduate students with prelingual deafness and 59 hearing students (the control group). Analysis of response latencies and accuracy in the three study conditions suggests that the word reading strategies the groups relied upon to process the stimulus materials were of the same nature. Evidence further suggests that prelingual deafness does not undermine the efficiency with which readers use these strategies. To gain a broader understanding of the obtained evidence, participants' performance in the word processing experiment was correlated with their phonemic awareness-the hypothesized hallmark of proficient word reading-and their reading comprehension skills. Findings are discussed with reference to a reading theory that assigns phonology a central role in proficient word reading.

ERCC1 function in nuclear excision and interstrand crosslink repair pathways is mediated exclusively by the ERCC1-202 isoform

PubMed Central

Friboulet, Luc; Postel-Vinay, Sophie; Sourisseau, Tony; Adam, Julien; Stoclin, Annabelle; Ponsonnailles, Florence; Dorvault, Nicolas; Commo, Frédéric; Saulnier, Patrick; Salome-Desmoulez, Sophie; Pottier, Géraldine; André, Fabrice; Kroemer, Guido; Soria, Jean Charles; Olaussen, Ken André

2013-01-01

ERCC1 (excision repair cross-complementation group 1) plays essential roles in the removal of DNA intrastrand crosslinks by nucleotide excision repair, and that of DNA interstrand crosslinks by the Fanconi anemia (FA) pathway and homology-directed repair processes (HDR). The function of ERCC1 thus impacts on the DNA damage response (DDR), particularly in anticancer therapy when DNA damaging agents are employed. ERCC1 expression has been proposed as a predictive biomarker of the response to platinum-based therapy. However, the assessment of ERCC1 expression in clinical samples is complicated by the existence of 4 functionally distinct protein isoforms, which differently impact on DDR. Here, we explored the functional competence of each ERCC1 protein isoform and obtained evidence that the 202 isoform is the sole one endowed with ERCC1 activity in DNA repair pathways. The ERCC1 isoform 202 interacts with RPA, XPA, and XPF, and XPF stability requires expression of the ERCC1 202 isoform (but none of the 3 others). ERCC1-deficient non-small cell lung cancer cells show abnormal mitosis, a phenotype reminiscent of the FA phenotype that can be rescued by isoform 202 only. Finally, we could not observe any dominant-negative interaction between ERCC1 isoforms. These data suggest that the selective assessment of the ERCC1 isoform 202 in clinical samples should accurately reflect the DDR-related activity of the gene and hence constitute a useful biomarker for customizing anticancer therapies. PMID:24036546

Identifying the role of pre-and postsynaptic GABAB receptors in behavior

PubMed Central

Kasten, Chelsea R.; Boehm, Stephen L.

2015-01-01

Although many reviews exist characterizing the molecular differences of GABAB receptor isoforms, there is no current review of the in vivo effects of these isoforms. The current review focuses on whether the GABAB1a and GABAB1b isoforms contribute differentially to behaviors in isoform knockout mice. The roles of these receptors have primarily been characterized in cognitive, anxiety, and depressive phenotypes. Currently, the field supports a role of GABAB1a in memory maintenance and protection against an anhedonic phenotype, whereas GABAB1b appears to be involved in memory formation and a susceptibility to developing an anhedonic phenotype. Although GABAB receptors have been strongly implicated in drug abuse phenotypes, no isoform-specific work has been done in this field. Future directions include developing site-specific isoform knockdown to identify the role of different brain regions in behavior, as well as identifying how these isoforms are involved in development of behavioral phenotypes. PMID:26283074

Evolutionary and tissue-specific control of expression of multiple acyl-carrier protein isoforms in plants and bacteria.

PubMed

Battey, J F; Ohlrogge, J B

1990-02-01

We have examined the occurrence of multiple acyl-carrier protein (ACP), isoforms in evolutionarily diverse species of higher and lower plants. Isoforms were resolved by native polyacrylamide gel electrophoresis (PAGE), and were detected by Western blotting or fluorography of [(3)H]-palmitate-labelled ACPs. Multiple isoforms of ACP were found in leaf tissue of the monocotyledons Avena sativa and Hordeum vulgare and dicotyledons Arabidopsis thaliana, Cuphea wrightii, and Brassica napus. Lower vascular plants including the lycopod Selaginella krausseriana, the gymnosperms Ephedra sp. and Dioon edule, the ferns Davallia feejensis and Marsilea sp. and the most primitive known extant vascular plant, Psilotum nudum, were all found to have multiple ACP isoforms, as were the nonvascular liverworts, Lunularia sp. and Marchantia sp. and the moss, Polytrichum sp. Therefore, the development of ACP isoforms appears to have occurred early in plant evolution. However, we could detect only a single electrophoretic form of ACP in the unicellular algae Chlamydomonas reinhardtii and Dunaliella tertiolecta and the photosynthetic cyanobacteria Synechocystis strain 6803 and Agmnellum quadruplicatum. Thus, multiple forms of ACP do not occur in all photosynthetic organisms but may be associated with multicellular plants. We have also examined tissue specificity and light control over the expression of ACP isoforms. The relative abundance of multiple forms of ACP in leaf of Spinacia and Avena was altered very little by light. Rather, the different patterns of ACP isoforms were primarily dependent on the tissue type.

Increased dysbindin-1B isoform expression in schizophrenia and its propensity in aggresome formation

PubMed Central

Xu, Yiliang; Sun, Yuhui; Ye, Haihong; Zhu, Li; Liu, Jianghong; Wu, Xiaofeng; Wang, Le; He, Tingting; Shen, Yan; Wu, Jane Y; Xu, Qi

2015-01-01

Genetic variations in the human dysbindin-1 gene (DTNBP1) have been associated with schizophrenia. As a result of alternative splicing, the human DTNBP1 gene generates at least three distinct protein isoforms, dysbindin-1A, -1B and -1C. Significant effort has focused on dysbindin-1A, an important player in multiple steps of neurodevelopment. However, the other isoforms, dysbindin-1B and dysbindin-1C have not been well characterized. Nor have been associated with human diseases. Here we report an increase in expression of DTNBP1b mRNA in patients with paranoid schizophrenia as compared with healthy controls. A single-nucleotide polymorphism located in intron 9, rs117610176, has been identified and associated with paranoid schizophrenia, and its C allele leads to an increase of DTNBP1b mRNA splicing. Our data show that different dysbindin splicing isoforms exhibit distinct subcellular distribution, suggesting their distinct functional activities. Dysbindin-1B forms aggresomes at the perinuclear region, whereas dysbindin-1A and -1C proteins exhibit diffused patterns in the cytoplasm. Dysbindin-1A interacts with dysbindin-1B, getting recruited to the aggresome structure when co-expressed with dysbindin-1B. Moreover, cortical neurons over-expressing dysbindin-1B show reduction in neurite outgrowth, suggesting that dysbindin-1B may interfere with dysbindin-1A function in a dominant-negative manner. Taken together, our study uncovers a previously unknown association of DTNBP1b expression with schizophrenia in addition to its distinct biochemical and functional properties. PMID:27462430

Language, arithmetic word problems, and deaf students: Linguistic strategies used to solve tasks

NASA Astrophysics Data System (ADS)

Zevenbergen, Robyn; Hyde, Merv; Power, Des

2001-12-01

There has been limited examination of the intersection between language and arithmetic in the performance of deaf students, although some previous research has shown that deaf and hearing-impaired1 students are delayed in both their language acquisition and arithmetic performance. This paper examines the performance of deaf and hearing-impaired students in South-East Queensland, Australia, in solving arithmetic word problems. It was found that the subjects' solutions of word problems confirmed trends for hearing students, but that their performance was delayed in comparison. The results confirm other studies where deaf and hearing-impaired students are delayed in their language acquisition and this impacts on their capacity to successfully undertake the resolution of word problems.

Heterologous expression of a rice metallothionein isoform (OsMTI-1b) in Saccharomyces cerevisiae enhances cadmium, hydrogen peroxide and ethanol tolerance.

PubMed

Ansarypour, Zahra; Shahpiri, Azar

Metallothioneins are a superfamily of low-molecular-weight, cysteine (Cys)-rich proteins that are believed to play important roles in protection against metal toxicity and oxidative stress. The main purpose of this study was to investigate the effect of heterologous expression of a rice metallothionein isoform (OsMTI-1b) on the tolerance of Saccharomyces cerevisiae to Cd 2+ , H 2 O 2 and ethanol stress. The gene encoding OsMTI-1b was cloned into p426GPD as a yeast expression vector. The new construct was transformed to competent cells of S. cerevisiae. After verification of heterologous expression of OsMTI-1b, the new strain and control were grown under stress conditions. In comparison to control strain, the transformed S. cerevisiae cells expressing OsMTI-1b showed more tolerance to Cd 2+ and accumulated more Cd 2+ ions when they were grown in the medium containing CdCl 2 . In addition, the heterologous expression of GST-OsMTI-1b conferred H 2 O 2 and ethanol tolerance to S. cerevisiae cells. The results indicate that heterologous expression of plant MT isoforms can enhance the tolerance of S. cerevisiae to multiple stresses. Copyright © 2017 Sociedade Brasileira de Microbiologia. Published by Elsevier Editora Ltda. All rights reserved.

Modeled Microgravity-Induced Protein Kinase C Isoform Expression in Human Lymphocytes

NASA Technical Reports Server (NTRS)

Sundaresan, A.; Risin, D.; Pellis, N. R.

2003-01-01

In long-term space travel, the crew is exposed to microgravity and radiation that invoke potential hazards to the immune system. T cell activation is a critical step in the immune response. Receptor-mediated signaling is inhibited both in microgravity and modeled microgravity (MMG) as reflected in diminished DNA synthess in peripheral blood lymphocytes and their locomotion through gelled type 1 collagen. Direct activation of Protein Kinase C (PKC) bypassing cell surface events using the phorbol ester PMA rescues MMG-inhibited lymphocyte activation and locomotion, whereas calcium ionophore ionomycin had no rescue effect. Thus calcium-independent PKC isoforms may be affected in MMG-induced locomotion inhibition and rescue. Both calcium-dependent isoforms and calcium-independent PKC isoforms were investigated to assess their expression in lymphocytes in 19 and MMG-culture. Human lymphocytes were cultured and harvested at 24, 48, 72 and 96 hours and serial samples assessed for locomotion using type I collagen and expression of PKC isoforms. Expression of PKC-alpha, -delta and -epsilon was assessed by RT-PCR, flow cytometry and immunoblotting. Results indicated that PKC isoforms delta and epsilon were down-regulated by more than 50% at the transcriptional and translational levels in MMG-cultured lymphocytes compared with 19 controls. Events upstream of PKC such as phosphorylation of Phospholipase C(gamma) (PLC-gamma) in MMG, revealed accumulation of inactive enzyme. Depressed Ca++ -independent PKC isoforms may be a consequence of an upstream lesion in the signal transduction pathway. The differential response among calcium-dependent and calcium-independent isoforms may actually result from MMG intrusion events earlier than, but after ligand-receptor interaction. Keywords: Signal transduction, locomotion, immunity

Brain Responses to Musical Feature Changes in Adolescent Cochlear Implant Users

PubMed Central

Petersen, Bjørn; Weed, Ethan; Sandmann, Pascale; Brattico, Elvira; Hansen, Mads; Sørensen, Stine Derdau; Vuust, Peter

2015-01-01

Cochlear implants (CIs) are primarily designed to assist deaf individuals in perception of speech, although possibilities for music fruition have also been documented. Previous studies have indicated the existence of neural correlates of residual music skills in postlingually deaf adults and children. However, little is known about the behavioral and neural correlates of music perception in the new generation of prelingually deaf adolescents who grew up with CIs. With electroencephalography (EEG), we recorded the mismatch negativity (MMN) of the auditory event-related potential to changes in musical features in adolescent CI users and in normal-hearing (NH) age mates. EEG recordings and behavioral testing were carried out before (T1) and after (T2) a 2-week music training program for the CI users and in two sessions equally separated in time for NH controls. We found significant MMNs in adolescent CI users for deviations in timbre, intensity, and rhythm, indicating residual neural prerequisites for musical feature processing. By contrast, only one of the two pitch deviants elicited an MMN in CI users. This pitch discrimination deficit was supported by behavioral measures, in which CI users scored significantly below the NH level. Overall, MMN amplitudes were significantly smaller in CI users than in NH controls, suggesting poorer music discrimination ability. Despite compliance from the CI participants, we found no effect of the music training, likely resulting from the brevity of the program. This is the first study showing significant brain responses to musical feature changes in prelingually deaf adolescent CI users and their associations with behavioral measures, implying neural predispositions for at least some aspects of music processing. Future studies should test any beneficial effects of a longer lasting music intervention in adolescent CI users. PMID:25705185

Brain responses to musical feature changes in adolescent cochlear implant users.

PubMed

Petersen, Bjørn; Weed, Ethan; Sandmann, Pascale; Brattico, Elvira; Hansen, Mads; Sørensen, Stine Derdau; Vuust, Peter

2015-01-01

Cochlear implants (CIs) are primarily designed to assist deaf individuals in perception of speech, although possibilities for music fruition have also been documented. Previous studies have indicated the existence of neural correlates of residual music skills in postlingually deaf adults and children. However, little is known about the behavioral and neural correlates of music perception in the new generation of prelingually deaf adolescents who grew up with CIs. With electroencephalography (EEG), we recorded the mismatch negativity (MMN) of the auditory event-related potential to changes in musical features in adolescent CI users and in normal-hearing (NH) age mates. EEG recordings and behavioral testing were carried out before (T1) and after (T2) a 2-week music training program for the CI users and in two sessions equally separated in time for NH controls. We found significant MMNs in adolescent CI users for deviations in timbre, intensity, and rhythm, indicating residual neural prerequisites for musical feature processing. By contrast, only one of the two pitch deviants elicited an MMN in CI users. This pitch discrimination deficit was supported by behavioral measures, in which CI users scored significantly below the NH level. Overall, MMN amplitudes were significantly smaller in CI users than in NH controls, suggesting poorer music discrimination ability. Despite compliance from the CI participants, we found no effect of the music training, likely resulting from the brevity of the program. This is the first study showing significant brain responses to musical feature changes in prelingually deaf adolescent CI users and their associations with behavioral measures, implying neural predispositions for at least some aspects of music processing. Future studies should test any beneficial effects of a longer lasting music intervention in adolescent CI users.

Deaf Readers’ Response to Syntactic Complexity: Evidence from Self-Paced Reading

PubMed Central

Traxler, Matthew J.; Corina, David P.; Morford, Jill P.; Hafer, Sarah; Hoversten, Liv J.

2013-01-01

This study was designed to determine the feasibility of using self-paced reading methods to study deaf readers and to assess how deaf readers respond to two syntactic manipulations. Three groups of participants read the test sentences: deaf readers, hearing monolingual English readers, and hearing bilingual readers whose second language was English. In Experiment 1, participants read sentences containing subject relative or object relative clauses. The test sentences contained semantic information that influences on-line processing outcomes (Traxler et al., 2002; 2005). All of the participant groups had greater difficulty processing sentences containing object relative clauses. This difficulty was reduced when helpful semantic cues were present. In Experiment 2, participants read active voice and passive voice sentences. The sentences were processed similarly by all three groups. Comprehension accuracy was higher in hearing readers than in deaf readers. Within deaf readers, native signers read the sentences faster and comprehended them to a higher degree than did non-native signers. These results indicate that self-paced reading is a useful method for studying sentence interpretation among deaf readers. PMID:23868696

Positive Psychology in Research with the Deaf Community: An Idea Whose Time Has Come.

PubMed

Szarkowski, Amy; Brice, Patrick

2018-04-01

The emergence of positive psychology as an approach to studying what makes life worth living has inspired a new wave of research. Studies have focused on the prevalence and degree of positive attributes, attitudes, and characteristics in the wider population. Increasingly, lessons learned from positive psychology have been applied to understanding the more diverse experiences of individuals belonging to various groups. Only recently, however, has positive psychology research incorporated a disability perspective, and very little research from a positive psychology stance has been conducted with deaf people. This article addresses the application of positive psychology constructs in the context of deaf communities and individuals who are deaf or hard of hearing. We argue that utilization of a positive psychology paradigm can broaden and enrich a collective understanding of deaf people, and suggest a different set of research questions. A positive psychology mindset encourages scholars to learn how people who are deaf or hard of hearing, and those within the larger deaf community1, may define and attain "the good life."

Development and testing of an antitobacco school-based curriculum for deaf and hard of hearing youth.

PubMed

Berman, Barbara A; Guthmann, Debra S; Crespi, Catherine M; Liu, Weiqing

2011-01-01

A tobacco use prevention curriculum tailored for deaf/hard of hearing youth was tested using a quasi-experimental design. Two schools for the deaf received the curriculum; two served as noncurriculum controls. Surveys assessed changes in tobacco use, tobacco education exposure, and tobacco-related attitudes and knowledge among students in grades 7-12 over 3 school years (n = 511-616). Current (past month) smoking decreased significantly at one intervention school (23% to 8%,p = .007), and current smokeless tobacco use at the other (7.5% to 2.5%, p = .03). Tobacco education exposure and antitobacco attitudes and knowledge increased significantly at one or both intervention schools. At one control school, reported tobacco education exposure decreased (p < .001) and antitobacco attitudes increased (p = .01). The results indicate that the curriculum increased perceived tobacco education exposure and significantly affected tobacco-related practices, attitudes, and knowledge.

Forced expression of the Ikaros 6 isoform in human placental blood CD34(+) cells impairs their ability to differentiate toward the B-lymphoid lineage.

PubMed

Tonnelle, C; Bardin, F; Maroc, C; Imbert, A M; Campa, F; Dalloul, A; Schmitt, C; Chabannon, C

2001-11-01

Studies in mice suggest that the Ikaros (Ik) gene encodes several isoforms and is a critical regulator of hematolymphoid differentiation. Little is known on the role of Ikaros in human stem cell differentiation. Herein, the biological consequences of the forced expression of Ikaros 6 (Ik6) in human placental blood CD34(+) progenitors are evaluated. Ik6 is one of the isoforms produced from the Ikaros premessenger RNA by alternative splicing and is thought to behave as a dominant negative isoform of the gene product because it lacks the DNA binding domain present in transcriptionally active isoforms. The results demonstrate that human cord blood CD34(+) cells that express high levels of Ik6 as a result of retrovirally mediated gene transfer have a reduced capacity to produce lymphoid B cells in 2 independent assays: (1) in vitro reinitiation of human hematopoiesis during coculture with the MS-5 murine stromal cell line and (2) xenotransplantation in nonobese diabetic-severe combined immunodeficient mice. These results suggest that Ikaros plays an important role in stem cell commitment in humans and that the balance between the different isoforms is a key element of this regulatory system; they support the hypothesis that posttranscriptional events can participate in the control of human hematopoietic differentiation.

Multimedia Storybooks: Supporting Vocabulary for Students Who Are Deaf/Hard-of-Hearing

ERIC Educational Resources Information Center

Donne, Vicki; Briley, Margaret L.

2015-01-01

A single case study examined the use of multimedia storybooks on the vocabulary acquisition of 7 preschool students who are deaf/hard of hearing in two classrooms at a school for the deaf in the U.S. Participants also included 3 speech-language pathologists. Students spent an average of 7.1 minutes daily working with the multimedia storybooks and…

Training Literacy Skills through Sign Language

ERIC Educational Resources Information Center

Rudner, Mary; Andin, Josefine; Rönnberg, Jerker; Heimann, Mikael; Hermansson, Anders; Nelson, Keith; Tjus, Tomas

2015-01-01

The literacy skills of deaf children generally lag behind those of their hearing peers. The mechanisms of reading in deaf individuals are only just beginning to be unraveled but it seems that native language skills play an important role. In this study 12 deaf pupils (six in grades 1-2 and six in grades 4-6) at a Swedish state primary school for…

Reduced Apolipoprotein Glycosylation in Patients with the Metabolic Syndrome

PubMed Central

Savinova, Olga V.; Fillaus, Kristi; Jing, Linhong; Harris, William S.; Shearer, Gregory C.

2014-01-01

Objective The purpose of this study was to compare the apolipoprotein composition of the three major lipoprotein classes in patients with metabolic syndrome to healthy controls. Methods Very low density (VLDL), intermediate/low density (IDL/LDL, hereafter LDL), and high density lipoproteins (HDL) fractions were isolated from plasma of 56 metabolic syndrome subjects and from 14 age-sex matched healthy volunteers. The apolipoprotein content of fractions was analyzed by one-dimensional (1D) gel electrophoresis with confirmation by a combination of mass spectrometry and biochemical assays. Results Metabolic syndrome patients differed from healthy controls in the following ways: (1) total plasma - apoA1 was lower, whereas apoB, apoC2, apoC3, and apoE were higher; (2) VLDL - apoB, apoC3, and apoE were increased; (3) LDL - apoC3 was increased, (4) HDL -associated constitutive serum amyloid A protein (SAA4) was reduced (p<0.05 vs. controls for all). In patients with metabolic syndrome, the most extensively glycosylated (di-sialylated) isoform of apoC3 was reduced in VLDL, LDL, and HDL fractions by 17%, 30%, and 25%, respectively (p<0.01 vs. controls for all). Similarly, the glycosylated isoform of apoE was reduced in VLDL, LDL, and HDL fractions by 15%, 26%, and 37% (p<0.01 vs. controls for all). Finally, glycosylated isoform of SAA4 in HDL fraction was 42% lower in patients with metabolic syndrome compared with controls (p<0.001). Conclusions Patients with metabolic syndrome displayed several changes in plasma apolipoprotein composition consistent with hypertriglyceridemia and low HDL cholesterol levels. Reduced glycosylation of apoC3, apoE and SAA4 are novel findings, the pathophysiological consequences of which remain to be determined. PMID:25118169

MYCN controls an alternative RNA splicing program in high-risk metastatic neuroblastoma.

PubMed

Zhang, Shile; Wei, Jun S; Li, Samuel Q; Badgett, Tom C; Song, Young K; Agarwal, Saurabh; Coarfa, Cristian; Tolman, Catherine; Hurd, Laura; Liao, Hongling; He, Jianbin; Wen, Xinyu; Liu, Zhihui; Thiele, Carol J; Westermann, Frank; Asgharzadeh, Shahab; Seeger, Robert C; Maris, John M; Guidry Auvil, Jamie M; Smith, Malcolm A; Kolaczyk, Eric D; Shohet, Jason; Khan, Javed

2016-02-28

The molecular mechanisms underlying the aggressive behavior of MYCN driven neuroblastoma (NBL) is under intense investigation; however, little is known about the impact of this family of transcription factors on the splicing program. Here we used high-throughput RNA sequencing to systematically study the expression of RNA isoforms in stage 4 MYCN-amplified NBL, an aggressive subtype of metastatic NBL. We show that MYCN-amplified NBL tumors display a distinct gene splicing pattern affecting multiple cancer hallmark functions. Six splicing factors displayed unique differential expression patterns in MYCN-amplified tumors and cell lines, and the binding motifs for some of these splicing factors are significantly enriched in differentially-spliced genes. Direct binding of MYCN to promoter regions of the splicing factors PTBP1 and HNRNPA1 detected by ChIP-seq demonstrates that MYCN controls the splicing pattern by direct regulation of the expression of these key splicing factors. Furthermore, high expression of PTBP1 and HNRNPA1 was significantly associated with poor overall survival of stage4 NBL patients (p ≤ 0.05). Knocking down PTBP1, HNRNPA1 and their downstream target PKM2, an isoform of pro-tumor-growth, result in repressed growth of NBL cells. Therefore, our study reveals a novel role of MYCN in controlling global splicing program through regulation of splicing factors in addition to its well-known role in the transcription program. These findings suggest a therapeutically potential to target the key splicing factors or gene isoforms in high-risk NBL with MYCN-amplification. Published by Elsevier Ireland Ltd.

Impact of communication on preventive services among deaf American Sign Language users.

PubMed

McKee, Michael M; Barnett, Steve L; Block, Robert C; Pearson, Thomas A

2011-07-01

Deaf American Sign Language (ASL) users face communication and language barriers that limit healthcare communication with their providers. Prior research has not examined preventive services with ASL-skilled clinicians. The goal of this study was to determine whether provider language concordance is associated with improved receipt of preventive services among deaf respondents. This cross-sectional study included 89 deaf respondents aged 50-75 years from the Deaf Health Survey (2008), a Behavioral Risk Factor Surveillance System survey adapted for use with deaf ASL users. Association between the respondent's communication method with the provider (i.e., categorized as either concordant-doctor signs or discordant-other) and preventive services use was assessed using logistic regression adjusting for race, gender, income, health status, health insurance, and education. Analyses were conducted in 2010. Deaf respondents who reported having a concordant provider were more likely to report a greater number of preventive services (OR=3.42, 95% CI=1.31, 8.93, p=0.0122) when compared to deaf respondents who reported having a discordant provider even after adjusting for race, gender, income, health status, health insurance, and education. In unadjusted analyses, deaf respondents who reported having a concordant provider were more likely to receive an influenza vaccination in the past year (OR=4.55, p=0.016) when compared to respondents who had a discordant provider. Language-concordant patient-provider communication is associated with higher appropriate use of preventive services by deaf ASL users. Copyright © 2011 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.

Cochlear implanted pupils in Scottish schools: 4-year school attainment data (2000-2004).

PubMed

Thoutenhoofd, Ernst

2006-01-01

The Achievements of Deaf Pupils in Scotland (ADPS) project has been tracking the educational attainment of deaf pupils in Scotland's schools since 2000. At the time of writing, the database contains records for 1,752 deaf pupils (2000-2005). Here 4-year aggregate educational attainment data are reported for a subset of 152 school-aged deaf pupils with cochlear implants notified to the ADPS database between June 2000 and June 2004. The data describe primary and secondary school results in reading, writing, and math for this subgroup, as well as placement and communication characteristics. The educational attainment of the group of deaf pupils with cochlear implants is clearly marked when the deaf pupil population is disaggregated for hearing loss, achieving comparatively higher average attainment in both 5-14 Curriculum National Tests (Mathematics in particular) and Standard Grades. Therefore the gap in performance relative to the national population data is reduced for those deaf pupils, although it still widens at higher levels of achievement for the National Tests. Although most pupils with cochlear implants are placed in the mainstream, there is no pattern of migration toward mainstream schools. Some deaf pupils with cochlear implants moved out of mainstream to other types of placement, and this has implications for health-economic cost-utility assessments of cochlear implantation that favor mainstream education by drawing upon the relative cost of different placement types. These findings suggest that the ADPS program of research can contribute school outcome data as valuable real-life outcome measures in wider assessments of the benefit of cochlear implants to deaf children and deaf young people.

An analysis of the inheritance pattern of an adult-onset hearing loss in Border Collie dogs.

PubMed

Schmutz, Sheila M

2014-01-01

During routine diagnostic BAER testing of dogs of various breeds for private owners at the Western College of Veterinary Medicine in Saskatoon, it became evident that some individual dogs developed hearing loss as adults. Although inherited congenital deafness has been widely reported in dogs, this type of deafness had not. Special clinics were set up to screen working Border Collies at herding competitions. To determine the typical age that geriatric deafness might be expected, retired dogs were also recruited. Five of the 10 Border Collies 12 years of age or older had hearing loss (1 bilaterally deaf and 4 had reduced hearing). The adult onset deafness which exhibited in three families, did not usually occur until 5 years of age, too young to be geriatric deafness. This adult onset deafness fits an autosomal dominant pattern of inheritance. Several of these dogs had been BAER tested at younger ages with no sign of deafness. The deaf dogs were not associated with either gender. A survey was developed which was completed by the dog owners, that indicated that the hearing loss was gradual, not sudden. In addition, some family studies were conducted. Dogs at 5 years of age were often in the prime of their herding careers and then did not respond appropriately to distant commands. This type of deafness is important to dog owners but is also a potential medical model for some forms of hearing loss in humans. This report also suggests that geriatric hearing loss is common in dogs older than 12 years.

The effect of an interactive experience on music majors' perceptions of music for deaf students.

PubMed

Kaiser, K A; Johnson, K E

2000-01-01

The purpose of this study was to examine the effect of an interactive experience on music majors' perceptions of music experiences for deaf students. Twenty-three members of a pre-existing college brass ensemble served as subjects, and a 1-hour interactive concert/presentation for 10 deaf elementary children served as the independent variable. The interactive experience was designed to provide social, musical, and educational interactions between the college musicians and the deaf children. A pretest-posttest design was utilized, and the dependent variable was a questionnaire designed to examine the subjects' perceptions regarding music for deaf students, including how prepared, comfortable, and willing they felt to provide music experiences for deaf students. Results reveal that this single interactive experience had a significant effect on the subjects' perceptions of the value of music in the education of deaf children (p <.05). Although the pretest and posttest scores indicate that the subjects felt apprehensive about their preparedness to work with deaf students, the subjects felt significantly more positive about their preparedness following the interaction (p <.001). An analysis of open comments indicates that the subjects perceived the experience as (a) very positive, (b) increasing their knowledge and perception of music for deaf students, (c) helping them better relate to the deaf population, (d) promoting interest in similar experiences and in gaining more information, and (e) eliciting a feeling that future teachers should have similar experiences. Quotes from the subjects are given, and implications for teacher training/music therapy programs are discussed.

Functional overload increases beta-MHC promoter activity in rodent fast muscle via the proximal MCAT (betae3) site.

PubMed

Giger, Julia M; Haddad, Fadia; Qin, Anqi X; Baldwin, Kenneth M

2002-03-01

Functional overload (OL) of the rat plantaris muscle by the removal of synergistic muscles induces a shift in the myosin heavy chain (MHC) isoform expression profile from the fast isoforms toward the slow type I, or, beta-MHC isoform. Different length rat beta-MHC promoters were linked to a firefly luciferase reporter gene and injected in control and OL plantaris muscles. Reporter activities of -3,500, -914, -408, and -215 bp promoters increased in response to 1 wk of OL. The smallest -171 bp promoter was not responsive to OL. Mutation analyses of putative regulatory elements within the -171 and -408 bp region were performed. The -408 bp promoters containing mutations of the betae1, distal muscle CAT (MCAT; betae2), CACC, or A/T-rich (GATA), were still responsive to OL. Only the proximal MCAT (betae3) mutation abolished the OL response. Gel mobility shift assays revealed a significantly higher level of complex formation of the betae3 probe with nuclear protein from OL plantaris compared with control plantaris. These results suggest that the betae3 site functions as a putative OL-responsive element in the rat beta-MHC gene promoter.

Multiple, simultaneous, independent gradients for a versatile multidimensional liquid chromatography. Part II: Application 1 - Large increases in isoform resolution of human transferrin by use of dual simultaneous independent gradients of pH & acetonitrile on a mixed bed (anion exchange plus reversed phase) stationary phase.

PubMed

Tsonev, Latchezar I; Hirsh, Allen G

2016-10-14

We have previously described a liquid chromatographic (LC) method for uncoupling controlled, wide range pH gradients and simultaneous controlled gradients of a non-buffering solute on ion exchange resins (Hirsh and Tsonev, 2012) [1]. Here we report the application of this two dimensional LC technique to the problem of resolving Human Transferrin (HT) isoforms. This important iron transporting protein should theoretically occur in several thousand glycoforms, but only about a dozen have been reported. Using dual simultaneous independent gradients (DSIGs) of acetonitrile (ACN) and pH on a mixed bed stationary phase (SP) consisting of a mixture of an anion exchange resin and a reversed phase (RP) resin we partially resolve about 60 isoforms. These are likely to be partially refolded glycoforms generated by interaction of HT with the highly hydrophobic RP SP, as well as distinct folded glycoforms. Thus this study should have interesting implications for both glycoform separation and the study of protein folding. Copyright © 2016 Elsevier B.V. All rights reserved.

Early Sign Language Experience Goes along with an Increased Cross-Modal Gain for Affective Prosodic Recognition in Congenitally Deaf CI Users

ERIC Educational Resources Information Center

Fengler, Ineke; Delfau, Pia-Céline; Röder, Brigitte

2018-01-01

It is yet unclear whether congenitally deaf cochlear implant (CD CI) users' visual and multisensory emotion perception is influenced by their history in sign language acquisition. We hypothesized that early-signing CD CI users, relative to late-signing CD CI users and hearing, non-signing controls, show better facial expression recognition and…

"Ground Control to Deaf and Hard of Hearing Students...": Space Camp Provides Lessons in Science, Math, Teamwork, and Fun

ERIC Educational Resources Information Center

Perkins, Becky

2007-01-01

In this article, the author describes the Space Camp at the U.S. Space & Rocket Center in Huntsville, Alabama, where deaf and hard of hearing students can pilot spaceships, conduct experiments, and dodge meteorites. Each year in the spring, students from schools all over the United States attend a one-week, hands-on learning experience in…

Computer Aided Self-Instruction Training with Impulsive Deaf Students and Learning Disabled Students: A Study on Teaching Reflective Thought. Education and Technology Series.

ERIC Educational Resources Information Center

Campbell, Donald S.; And Others

Two studies examined the effectiveness of self-instruction training via a specially developed computer program to modify the impulsive problem-solving behavior of 16 deaf and 10 learning disabled (aphasic) adolescents attending two special residential schools in Canada. In the control condition, students learned the Apple LOGO computing language…

45 CFR 707.9 - Access to communications.

Code of Federal Regulations, 2010 CFR

2010-10-01

... requirements regarding oral communications—(1) Telecommunications devices for deaf persons. (i) The Agency... for deaf persons (TDD) or equally effective telecommunications device. (ii) The Agency shall ensure...

Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans.

PubMed

Bosch, Jason; Noubiap, Jean Jacques N; Dandara, Collet; Makubalo, Nomlindo; Wright, Galen; Entfellner, Jean-Baka Domelevo; Tiffin, Nicki; Wonkam, Ambroise

2014-11-01

Mutations in the GJB2 gene, encoding connexin 26, could account for 50% of congenital, nonsyndromic, recessive deafness cases in some Caucasian/Asian populations. There is a scarcity of published data in sub-Saharan Africans. We Sanger sequenced the coding region of the GJB2 gene in 205 Cameroonian and Xhosa South Africans with congenital, nonsyndromic deafness; and performed bioinformatic analysis of variations in the GJB2 gene, incorporating data from the 1000 Genomes Project. Amongst Cameroonian patients, 26.1% were familial. The majority of patients (70%) suffered from sensorineural hearing loss. Ten GJB2 genetic variants were detected by sequencing. A previously reported pathogenic mutation, g.3741_3743delTTC (p.F142del), and a putative pathogenic mutation, g.3816G>A (p.V167M), were identified in single heterozygous samples. Amongst eight the remaining variants, two novel variants, g.3318-41G>A and g.3332G>A, were reported. There were no statistically significant differences in allele frequencies between cases and controls. Principal Components Analyses differentiated between Africans, Asians, and Europeans, but only explained 40% of the variation. The present study is the first to compare African GJB2 sequences with the data from the 1000 Genomes Project and have revealed the low variation between population groups. This finding has emphasized the hypothesis that the prevalence of mutations in GJB2 in nonsyndromic deafness amongst European and Asian populations is due to founder effects arising after these individuals migrated out of Africa, and not to a putative "protective" variant in the genomic structure of GJB2 in Africans. Our results confirm that mutations in GJB2 are not associated with nonsyndromic deafness in Africans.

Induction of laccases in Trametes versicolor by aqueous wood extracts.

PubMed

Bertrand, Brandt; Martínez-Morales, Fernando; Tinoco, Raunel; Rojas-Trejo, Sonia; Serrano-Carreón, Leobardo; Trejo-Hernández, María R

2014-01-01

The induction of laccase isoforms in Trametes versicolor HEMIM-9 by aqueous extracts (AE) from softwood and hardwood was studied. Samples of sawdust of Pinus sp., Cedrela sp., and Quercus sp. were boiled in water to obtain AE. Different volumes of each AE were added to fungal cultures to determine the amount of AE needed for the induction experiments. Laccase activity was assayed every 24 h for 15 days. The addition of each AE (50 to 150 μl) to the fungal cultures increased laccase production compared to the control (0.42 ± 0.01 U ml(-1)). The highest laccase activities detected were 1.92 ± 0.15 U ml(-1) (pine), 1.87 ± 0.26 U ml(-1) (cedar), and 1.56 ± 0.34 U ml(-1) (oak); laccase productivities were also significantly increased. Larger volumes of any AE inhibited mycelial growth. Electrophoretic analysis revealed two laccase bands (lcc1 and lcc2) for all the treatments. However, when lcc2 was analyzed by isoelectric focusing, inducer-dependent isoform patterns composed of three (pine AE), four (oak AE), and six laccase bands (cedar AE) were observed. Thus, AE from softwood and hardwood had induction effects in T. versicolor HEMIM-9, as indicated by the increase in laccase activity and different isoform patterns. All of the enzymatic extracts were able to decolorize the dye Orange II. Dye decolorization was mainly influenced by pH. The optimum pH for decolorization was pH 5 (85%), followed by pH 7 (50%) and pH 3 (15%). No significant differences in the dye decolorizing capacity were detected between the control and the differentially induced laccase extracts (oak, pine and cedar). This could be due to the catalytic activities of isoforms with pI 5.4 and 5.8, which were detected under all induction conditions.

Deaf Children With Cochlear Implants Do Not Appear to Use Sentence Context to Help Recognize Spoken Words

PubMed Central

Conway, Christopher M.; Deocampo, Joanne A.; Walk, Anne M.; Anaya, Esperanza M.; Pisoni, David B.

2015-01-01

Purpose The authors investigated the ability of deaf children with cochlear implants (CIs) to use sentence context to facilitate the perception of spoken words. Method Deaf children with CIs (n = 24) and an age-matched group of children with normal hearing (n = 31) were presented with lexically controlled sentences and were asked to repeat each sentence in its entirety. Performance was analyzed at each of 3 word positions of each sentence (first, second, and third key word). Results Whereas the children with normal hearing showed robust effects of contextual facilitation—improved speech perception for the final words in a sentence—the deaf children with CIs on average showed no such facilitation. Regression analyses indicated that for the deaf children with CIs, Forward Digit Span scores significantly predicted accuracy scores for all 3 positions, whereas performance on the Stroop Color and Word Test, Children’s Version (Golden, Freshwater, & Golden, 2003) predicted how much contextual facilitation was observed at the final word. Conclusions The pattern of results suggests that some deaf children with CIs do not use sentence context to improve spoken word recognition. The inability to use sentence context may be due to possible interactions between language experience and cognitive factors that affect the ability to successfully integrate temporal–sequential information in spoken language. PMID:25029170

Fingerspelling as a Novel Gateway into Reading Fluency in Deaf Bilinguals

PubMed Central

Stone, Adam; Kartheiser, Geo; Hauser, Peter C.; Petitto, Laura-Ann; Allen, Thomas E.

2015-01-01

Studies have shown that American Sign Language (ASL) fluency has a positive impact on deaf individuals’ English reading, but the cognitive and cross-linguistic mechanisms permitting the mapping of a visual-manual language onto a sound-based language have yet to be elucidated. Fingerspelling, which represents English orthography with 26 distinct hand configurations, is an integral part of ASL and has been suggested to provide deaf bilinguals with important cross-linguistic links between sign language and orthography. Using a hierarchical multiple regression analysis, this study examined the relationship of age of ASL exposure, ASL fluency, and fingerspelling skill on reading fluency in deaf college-age bilinguals. After controlling for ASL fluency, fingerspelling skill significantly predicted reading fluency, revealing for the first-time that fingerspelling, above and beyond ASL skills, contributes to reading fluency in deaf bilinguals. We suggest that both fingerspelling—in the visual-manual modality—and reading—in the visual-orthographic modality—are mutually facilitating because they share common underlying cognitive capacities of word decoding accuracy and automaticity of word recognition. The findings provide support for the hypothesis that the development of English reading proficiency may be facilitated through strengthening of the relationship among fingerspelling, sign language, and orthographic decoding en route to reading mastery, and may also reveal optimal approaches for reading instruction for deaf and hard of hearing children. PMID:26427062

Fingerspelling as a Novel Gateway into Reading Fluency in Deaf Bilinguals.

PubMed

Stone, Adam; Kartheiser, Geo; Hauser, Peter C; Petitto, Laura-Ann; Allen, Thomas E

2015-01-01

Studies have shown that American Sign Language (ASL) fluency has a positive impact on deaf individuals' English reading, but the cognitive and cross-linguistic mechanisms permitting the mapping of a visual-manual language onto a sound-based language have yet to be elucidated. Fingerspelling, which represents English orthography with 26 distinct hand configurations, is an integral part of ASL and has been suggested to provide deaf bilinguals with important cross-linguistic links between sign language and orthography. Using a hierarchical multiple regression analysis, this study examined the relationship of age of ASL exposure, ASL fluency, and fingerspelling skill on reading fluency in deaf college-age bilinguals. After controlling for ASL fluency, fingerspelling skill significantly predicted reading fluency, revealing for the first-time that fingerspelling, above and beyond ASL skills, contributes to reading fluency in deaf bilinguals. We suggest that both fingerspelling--in the visual-manual modality--and reading--in the visual-orthographic modality--are mutually facilitating because they share common underlying cognitive capacities of word decoding accuracy and automaticity of word recognition. The findings provide support for the hypothesis that the development of English reading proficiency may be facilitated through strengthening of the relationship among fingerspelling, sign language, and orthographic decoding en route to reading mastery, and may also reveal optimal approaches for reading instruction for deaf and hard of hearing children.

Analysis Of Laryngeal Biomechanics Of Deaf Speakers Utilizing High-Speed Cinematography

NASA Astrophysics Data System (ADS)

Metz, Dale E.; Whitehead, Robert L.

1982-02-01

Since the formalization of the myoelastic-aerodynamic theory of vocal fold vibration, it has been generally accepted that biomechanical and aerodynamic forces determine the nature of vocal fold vibration patterns, speaking fundamental frequency and vocal intensity. The speech of the deaf is frequently characterized by abnormal voice qualities and aberrant frequency and intensity variations suggesting mismanagement of the biomechanical and aerodynamic forces acting on the larynx. Unfortunately, efforts to remediate these abnormal laryngeal activities are frequently ineffective. It is reasonable to suggest that more effective remedial strategies could be developed if we had a better understanding of the underlying nature of the problems deaf persons experience when trying to control laryngeal functioning for speech purposes. Toward this end, we are employing high speed laryngeal filming procedures in conjunction with glottal impedance, respiratory kinematic and acous-tical measurement procedures to assess abnormal laryngeal functioning of deaf speakers. All data are collected simultaneously and are time-locked to facilitate analysis of specific laryngeal events. This unique combination of instrumentation has provided important insights regarding laryngeal functioning of the deaf. For example, we have observed that deaf speakers may assume abnormal glottal configurations during phonation that pro-hibit normal laryngeal functioning and disturb upper airway dynamics. Also, normal vibratory patterns are frequently disturbed. Instrumentation, data collection protocols, analysis procedures and selected findings will be discussed.

Considering the Sociolinguistic Impact of Instability of Educational Philosophy on Reading Achievement of Students Who Are Deaf and Hard of Hearing

ERIC Educational Resources Information Center

Edwards, Sandra G.

2012-01-01

The purpose of this study was to consider the sociolinguistic impact of philosophical instability on reading comprehension achievement of students who are deaf and hard of hearing at a state school for the deaf. The research conducted examined the sociolinguistic impact by investigating the following: (1) what non-malleable factors influenced…

Vision Assessment and Program Manual for Severely Handicapped and/or Deaf-Blind Students. Bay Area Severely Handicapped Deaf Blind Project.

ERIC Educational Resources Information Center

Sailor, Wayne; And Others

Intended for teachers of deaf-blind and severely handicapped students as well as for resource or itinerant teachers in the area of vision who have recently begun to serve low functioning students, the manual provides information on vision and on vision assessment. The manual serves three functions. It: (1) prepares teachers for participation in…

Expanding the Circle: South Dakota Deaf-Blind Project. Final Report, 10-1-98 through 9-30-99.

ERIC Educational Resources Information Center

South Dakota State Dept. of Education and Cultural Affairs, Pierre.

This final report describes activities and accomplishments of the South Dakota Deaf-Blind Project, a 4-year federally funded project designed to raise awareness of the need for early identification of children who are deaf-blind and reside on Native American reservation lands. To this end, the states of Montana, Minnesota, North Dakota, Nebraska,…

Parent Perspectives on Communication, Behavioral, and Instructional Strategies for Children and Youth Who Are Deaf-Blind.

ERIC Educational Resources Information Center

National Technical Assistance Consortium for Children and Young Adults Who Are Deaf-Blind, Monmouth, OR.

From July 30-August 1, 1998, eighty parents and family members from across the country attended a national workshop held in St. Louis, Missouri sponsored by the National Technical Assistance Consortium for Children and Young Adults who are Deaf-Blind and the National Family Association for Deaf-Blind. The workshop, entitled "Going for the Best:…

Sarcasm and Advanced Theory of Mind Understanding in Children and Adults with Prelingual Deafness

ERIC Educational Resources Information Center

O'Reilly, Karin; Peterson, Candida C.; Wellman, Henry M.

2014-01-01

Two studies addressed key theoretical debates in theory of mind (ToM) development by comparing (a) deaf native signers (n = 18), (b) deaf late signers (n = 59), and (c) age-matched hearing persons (n = 74) in childhood (Study 1: n = 81) and adulthood (Study 2: n = 70) on tests of first- and second-order false belief and conversational sarcasm.…

Differential expression of Na+, K(+)-ATPase α-1 isoforms during seawater acclimation in the amphidromous galaxiid fish Galaxias maculatus.

PubMed

Urbina, Mauricio A; Schulte, Patricia M; Bystriansky, Jason S; Glover, Chris N

2013-04-01

Inanga (Galaxias maculatus) is an amphidromous fish with a well-known capacity to withstand a wide range of environmental salinities. To investigate the molecular mechanisms facilitating acclimation of inanga to seawater, several isoforms of the Na(+), K(+)-ATPase ion transporter were identified. This included three α-1 (a, b and c), an α-2 and two α-3 (a and b) isoforms. Phylogenetic analysis showed that the inanga α-1a and α-1b formed a clade with the α-1a and α-1b isoforms of rainbow trout, while another clade contained the α-1c isoforms of these species. The expression of all the α-1 isoforms was modulated after seawater exposure (28‰). In gills, the expression of the α-1a isoform was progressively down-regulated after seawater exposure, while the expression of the α-1b isoform was up-regulated. The α-1c isoform behaved similarly to the α-1a, although changes were less dramatic. Physiological indicators of salinity acclimation matched the time frame of the changes observed at the molecular level. A 24-h osmotic shock period was highlighted by small increases in plasma osmolality, plasma Na(+) and a decrease in muscle tissue water content. Thereafter, these values returned close to their pre-exposure (freshwater) values. Na(+), K(+)-ATPase activity showed a decreasing trend over the first 72 h following seawater exposure, but activity increased after 240 h. Our results indicate that inanga is an excellent osmoregulator, an ability that is conferred by the rapid activation of physiological and molecular responses to salinity change.

Two Ck1δ transcripts regulated by m6A methylation code for two antagonistic kinases in the control of the circadian clock

PubMed Central

Fustin, Jean-Michel; Kojima, Rika; Itoh, Kakeru; Chang, Hsin-Yi; Shiqi, Ye; Zhuang, Bowen; Oji, Asami; Gibo, Shingo; Narasimamurthy, Rajesh; Kurosawa, Gen; Doi, Masao; Manabe, Ichiro; Ishihama, Yasushi; Okamura, Hitoshi

2018-01-01

The N6-methylation of internal adenosines (m6A) in mRNA has been quantified and localized throughout the transcriptome. However, the physiological significance of m6A in most highly methylated mRNAs is unknown. It was demonstrated previously that the circadian clock, based on transcription-translation negative feedback loops, is sensitive to the general inhibition of m6A. Here, we show that the Casein Kinase 1 Delta mRNA (Ck1δ), coding for a critical kinase in the control of circadian rhythms, cellular growth, and survival, is negatively regulated by m6A. Inhibition of Ck1δ mRNA methylation leads to increased translation of two alternatively spliced CK1δ isoforms, CK1δ1 and CK1δ2, uncharacterized until now. The expression ratio between these isoforms is tissue-specific, CK1δ1 and CK1δ2 have different kinase activities, and they cooperate in the phosphorylation of the circadian clock protein PER2. While CK1δ1 accelerates the circadian clock by promoting the decay of PER2 proteins, CK1δ2 slows it down by stabilizing PER2 via increased phosphorylation at a key residue on PER2 protein. These observations challenge the previously established model of PER2 phosphorylation and, given the multiple functions and targets of CK1δ, the existence of two isoforms calls for a re-evaluation of past research when CK1δ1 and CK1δ2 were simply CK1δ. PMID:29784786

A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency.

PubMed

Takagi, Masaki; Kamasaki, Hotaka; Yagi, Hiroko; Fukuzawa, Ryuji; Narumi, Satoshi; Hasegawa, Tomonobu

2017-02-27

POU class 1 homeobox 1 (POU1F1) regulates pituitary cell-specific gene expression of somatotropes, lactotropes, and thyrotropes. In humans, two POU1F1 isoforms (long and short isoform), which are generated by the alternative use of the splice acceptor site for exon 2, have been identified. To date, more than 30 POU1F1 mutations in patients with combined pituitary hormone deficiency (CPHD) have been described. All POU1F1 variants reported to date affect both the short and long isoforms of the POU1F1 protein; therefore, it is unclear at present whether a decrease in the function of only one of these two isoforms is sufficient for disease onset in humans. Here, we described a sibling case of CPHD carrying a heterozygous mutation in intron 1 of POU1F1. In vitro experiments showed that this mutation resulted in exon 2-skipping of only in the short isoform of POU1F1, while the long isoform remained intact. This result strongly suggests the possibility, for the first time, that isolated mutations in the short isoform of POU1F1 could be sufficient for induction of POU1F1-related CPHD. This finding improves our understanding of the molecular mechanisms, and developmental course associated with mutations in POU1F1.

Longitudinal Receptive American Sign Language Skills Across a Diverse Deaf Student Body.

PubMed

Beal-Alvarez, Jennifer S

2016-04-01

This article presents results of a longitudinal study of receptive American Sign Language (ASL) skills for a large portion of the student body at a residential school for the deaf across four consecutive years. Scores were analyzed by age, gender, parental hearing status, years attending the residential school, and presence of a disability (i.e., deaf with a disability). Years 1 through 4 included the ASL Receptive Skills Test (ASL-RST); Years 2 through 4 also included the Receptive Test of ASL (RT-ASL). Student performance for both measures positively correlated with age; deaf students with deaf parents scored higher than their same-age peers with hearing parents in some instances but not others; and those with a documented disability tended to score lower than their peers without disabilities. These results provide longitudinal findings across a diverse segment of the deaf/hard of hearing residential school population. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Itinerant deaf educator and general educator perceptions of the D/HH push-in model.

PubMed

Rabinsky, Rebecca J

2013-01-01

A qualitative case study using the deaf and hard of hearing (D/HH) push-in model was conducted on the perceptions of 3 itinerant deaf educators and 3 general educators working in 1 school district. Participants worked in pairs of 1 deaf educator and 1 general educator at 3 elementary schools. Open-ended research questions guided the study, which was concerned with teachers' perceptions of the model in general and with the model's advantages, disadvantages, and effectiveness. Data collected from observations, one-to-one interviews, and a focus group interview enabled the investigator to uncover 4 themes: Participants (a) had an overall positive experience, (b) viewed general education immersion as an advantage, (c) considered high noise levels a disadvantage, and (d) believed the effectiveness of the push-in model was dependent on several factors, in particular, the needs of the student and the nature of the general education classroom environment.

Protein Kinase A Regulatory Subunit Isoforms Regulate Growth and Differentiation in Mucor circinelloides: Essential Role of PKAR4

PubMed Central

Ocampo, J.; McCormack, B.; Navarro, E.; Moreno, S.; Garre, V.

2012-01-01

The protein kinase A (PKA) signaling pathway plays a role in regulating growth and differentiation in the dimorphic fungus Mucor circinelloides. PKA holoenzyme is comprised of two catalytic (C) and two regulatory (R) subunits. In M. circinelloides, four genes encode the PKAR1, PKAR2, PKAR3, and PKAR4 isoforms of R subunits. We have constructed null mutants and demonstrate that each isoform has a different role in growth and differentiation. The most striking finding is that pkaR4 is an essential gene, because only heterokaryons were obtained in knockout experiments. Heterokaryons with low levels of wild-type nuclei showed an impediment in the emission of the germ tube, suggesting a pivotal role of this gene in germ tube emergence. The remaining null strains showed different alterations in germ tube emergence, sporulation, and volume of the mother cell. The pkaR2 null mutant showed an accelerated germ tube emission and was the only mutant that germinated under anaerobic conditions when glycine was used as a nitrogen source, suggesting that pkaR2 participates in germ tube emergence by repressing it. From the measurement of the mRNA and protein levels of each isoform in the wild-type and knockout strains, it can be concluded that the expression of each subunit has its own mechanism of differential regulation. The PKAR1 and PKAR2 isoforms are posttranslationally modified by ubiquitylation, suggesting another regulation point in the specificity of the signal transduction. The results indicate that each R isoform has a different role in M. circinelloides physiology, controlling the dimorphism and contributing to the specificity of cyclic AMP (cAMP)-PKA pathway. PMID:22635921

Deafness, Teacher-of-the-Deaf Support and Self-Concept in Australian Deaf Students

ERIC Educational Resources Information Center

Remine, Maria D.; Care, Esther; Grbic, Melissa

2009-01-01

This study examines whether self-concept scores of deaf students vary according to age at diagnosis of deafness, the degree of deafness and the number of visits students receive from a teacher of the deaf. Thirty-seven deaf students between the ages of 12 and 18 attending inclusive educational settings in Western Australia participated in the…

A tactile paging system for deaf-blind people, phase 2

NASA Technical Reports Server (NTRS)

Baer, J. A.

1977-01-01

Control logic and the on-body radio transmitter is investigated. The control logic capability and studied methods for implementing the on-body portion of the logic in a small package are improved. A small low power, on-body transmitter was designed, developed, and tested with a wrist-strap antenna to extend the one-way communication system developed during Phase 1 to a two-way communication system.

Alternative Polyadenylation in Glioblastoma Multiforme and Changes in Predicted RNA Binding Protein Profiles

PubMed Central

Shao, Jiaofang; Zhang, Jing; Zhang, Zengming; Jiang, Huawei; Lou, Xiaoyan; Foltz, Gregory; Lan, Qing; Huang, Qiang

2013-01-01

Abstract Alternative polyadenylation (APA) is widely present in the human genome and plays a key role in carcinogenesis. We conducted a comprehensive analysis of the APA products in glioblastoma multiforme (GBM, one of the most lethal brain tumors) and normal brain tissues and further developed a computational pipeline, RNAelements (http://sysbio.zju.edu.cn/RNAelements/), using covariance model from known RNA binding protein (RBP) targets acquired by RNA Immunoprecipitation (RIP) analysis. We identified 4530 APA isoforms for 2733 genes in GBM, and found that 182 APA isoforms from 148 genes showed significant differential expression between normal and GBM brain tissues. We then focused on three genes with long and short APA isoforms that show inconsistent expression changes between normal and GBM brain tissues. These were myocyte enhancer factor 2D, heat shock factor binding protein 1, and polyhomeotic homolog 1 (Drosophila). Using the RNAelements program, we found that RBP binding sites were enriched in the alternative regions between the first and the last polyadenylation sites, which would result in the short APA forms escaping regulation from those RNA binding proteins. To the best of our knowledge, this report is the first comprehensive APA isoform dataset for GBM and normal brain tissues. Additionally, we demonstrated a putative novel APA-mediated mechanism for controlling RNA stability and translation for APA isoforms. These observations collectively lay a foundation for novel diagnostics and molecular mechanisms that can inform future therapeutic interventions for GBM. PMID:23421905

[Genetic deafness].

PubMed

Marcolla, A; Bouchetemble, P; Lerosey, Y; Marie, J-P; Dehesdin, D

2006-06-01

The aim of this study was to review the different types of genetic deafness. We describe syndromic and isolated sensorineural deafness and transmission deafness. Genetic sensorineural syndromic deafness represents 30% of cases of genetic deafness. A frequent cause is Pendred syndrome, which associates congenital sensorineural deafness with goitre and malformations of the inner ear which can be identified on computed tomography scan. Isolated deafness which is responsible for 70% of cases of genetic deafness is then outlined. Among the different types of isolated deafness, 80% are autosomal recessive disorders. A frequent form of autosomal recessive deafness is due to mutations in the connexin 26 gene. Lastly, we detail transmission deafness dominated by aplasia. Major aplasia is characterized by a malformation of the external ear associated with malformations of the middle ear whereas, minor aplasia corresponds to a malformation of the middle ear, sometimes associated with minor external ear malformations. For each type of deafness we propose a systematic assessment.

ANGPT2 Genetic Variant Is Associated with Trauma-associated Acute Lung Injury and Altered Plasma Angiopoietin-2 Isoform Ratio

PubMed Central

Meyer, Nuala J.; Li, Mingyao; Feng, Rui; Bradfield, Jonathan; Gallop, Robert; Bellamy, Scarlett; Fuchs, Barry D.; Lanken, Paul N.; Albelda, Steven M.; Rushefski, Melanie; Aplenc, Richard; Abramova, Helen; Atochina-Vasserman, Elena N.; Beers, Michael F.; Calfee, Carolyn S.; Cohen, Mitchell J.; Pittet, Jean-Francois; Christiani, David C.; O'Keefe, Grant E.; Ware, Lorraine B.; May, Addison K.; Wurfel, Mark M.; Hakonarson, Hakon; Christie, Jason D.

2011-01-01

Rationale: Acute lung injury (ALI) acts as a complex genetic trait, yet its genetic risk factors remain incompletely understood. Large-scale genotyping has not previously been reported for ALI. Objectives: To identify ALI risk variants after major trauma using a large-scale candidate gene approach. Methods: We performed a two-stage genetic association study. We derived findings in an African American cohort (n = 222) using a cardiopulmonary disease–centric 50K single nucleotide polymorphism (SNP) array. Genotype and haplotype distributions were compared between subjects with ALI and without ALI, with adjustment for clinical factors. Top performing SNPs (P < 10−4) were tested in a multicenter European American trauma-associated ALI case-control population (n = 600 ALI; n = 2,266 population-based control subjects) for replication. The ALI-associated genomic region was sequenced, analyzed for in silico prediction of function, and plasma was assayed by ELISA and immunoblot. Measurements and Main Results: Five SNPs demonstrated a significant association with ALI after adjustment for covariates in Stage I. Two SNPs in ANGPT2 (rs1868554 and rs2442598) replicated their significant association with ALI in Stage II. rs1868554 was robust to multiple comparison correction: odds ratio 1.22 (1.06–1.40), P = 0.0047. Resequencing identified predicted novel splice sites in linkage disequilibrium with rs1868554, and immunoblots showed higher proportion of variant angiopoietin-2 (ANG2) isoform associated with rs1868554T (0.81 vs. 0.48; P = 0.038). Conclusions: An ANGPT2 region is associated with both ALI and variation in plasma angiopoietin-2 isoforms. Characterization of the variant isoform and its genetic regulation may yield important insights about ALI pathogenesis and susceptibility. PMID:21257790

Deaf clubs today: do they still have a role to play? The cases of Cyprus and Greece.

PubMed

Hadjikakou, Kika; Nikolaraizi, Magda

2011-01-01

The present study investigated the current functions of Deaf clubs in Cyprus and in Greece. The researchers conducted in-depth semistructured interviews with 24 Cypriot and 22 Greek deaf individuals ages 19-54 years. The researchers found that the Deaf clubs in both countries provide a gathering place for deaf people, organize social and sport activities, and promote their demands through legislation. In addition, Deaf clubs maintain and transmit Deaf culture and history to future generations, offer Deaf role models to young deaf children and their families, and provide Deaf awareness to hearing people (e.g., through sign languages classes). The study participants also stressed the role of Deaf clubs in deaf people's lives, unity, and prospects for future progress.

Alfabetizacion de las personas que son sordas e invidentes. Hoja informativa de DB-LINK (Literacy for Persons Who Are Deaf-Blind. DB-LINK Fact Sheet).

ERIC Educational Resources Information Center

Miles, Barbara

This fact sheet discusses the importance of literacy for individuals who are deaf-blind, the social functions of reading and writing, and conditions necessary for the development of literacy. Strategies for promoting literacy among this population are described and include: (1) invite children and adults who are deaf-blind to observe as you use…

Constitutive expression of the promyelocytic leukemia-associated oncogene PML-RARalpha in TF1 cells: isoform-specific and retinoic acid-dependent effects on growth, bcl-2 expression, and apoptosis.

PubMed

Slack, J L; Yu, M

1998-05-01

Two major isoforms of PML-RARalpha are associated with (15;17)-positive acute promyelocytic leukemia (APL); however, functional differences between these isoforms have been difficult to define, and the molecular mechanism by which each isoform contributes to the pathogenesis of APL is not fully understood. To address these issues, the 'short' (S) and 'long' (L) isoforms of PML-RARalpha were constitutively expressed in the factor-dependent human erythroleukemia cell line, TF1. Expression of the L, but not the S, isoform inhibited growth of these cells in the presence of granulocyte-macrophage colony-stimulating factor (GM-CSF). In the absence of GM-CSF, the S isoform partially protected against apoptosis, while the L isoform accelerated cell death. Treatment with all-trans retinoic acid (ATRA) inhibited cell growth and caused apoptosis only in PML-RARalpha-expressing cells, and these effects of ATRA were more marked in cells expressing the L isoform. ATRA treatment also led to downregulation of bcl-2 and endogenous RARalpha in PML-RARalpha-expressing cells, but had little effect on the level of exogenously expressed PML-RARalpha. We conclude that (1) subtle differences exist in the biologic activities of the L and S isoforms of PML-RARalpha, and (2) both isoforms are capable of transducing an ATRA-mediated signal that leads to downregulation of bcl-2 and induction of programmed cell death.

The Emotional Well-Being of Older Siblings of Children Who Are Deaf or Hard of Hearing and Older Siblings of Children with Typical Hearing

ERIC Educational Resources Information Center

Raghuraman, Renuka Sundaram

2008-01-01

This study explores the emotional well-being of older siblings of children who are deaf or hard of hearing and older siblings of children with typical hearing (control group). We interviewed 70 families and had both the parent and the older sibling complete questionnaires on sibling perceptions and relationships. Findings revealed no significant…

Insulin receptor isoform A ameliorates long-term glucose intolerance in diabetic mice

PubMed Central

Diaz-Castroverde, Sabela; Gómez-Hernández, Almudena; Fernández, Silvia; García-Gómez, Gema; Di Scala, Marianna; González-Aseguinolaza, Gloria; Fernández-Millán, Elisa; González-Rodríguez, Águeda; García-Bravo, María; Chambon, Pierre; Álvarez, Carmen; Perdomo, Liliana; Beneit, Nuria; Benito, Manuel

2016-01-01

ABSTRACT Type 2 diabetes mellitus is a complex metabolic disease and its pathogenesis involves abnormalities in both peripheral insulin action and insulin secretion. Previous in vitro data showed that insulin receptor isoform A, but not B, favours basal glucose uptake through its specific association with endogenous GLUT1/2 in murine hepatocytes and beta cells. With this background, we hypothesized that hepatic expression of insulin receptor isoform A in a mouse model of type 2 diabetes could potentially increase the glucose uptake of these cells, decreasing the hyperglycaemia and therefore ameliorating the diabetic phenotype. To assure this hypothesis, we have developed recombinant adeno-associated viral vectors expressing insulin receptor isoform A (IRA) or isoform B (IRB) under the control of a hepatocyte­-specific promoter. Our results demonstrate that in the long term, hepatic expression of IRA in diabetic mice is more efficient than IRB in ameliorating glucose intolerance. Consequently, it impairs the induction of compensatory mechanisms through beta cell hyperplasia and/or hypertrophy that finally lead to beta cell failure, reverting the diabetic phenotype in about 8 weeks. Our data suggest that long-term hepatic expression of IRA could be a promising therapeutic approach for the treatment of type 2 diabetes mellitus. PMID:27562101

Gαi Proteins are Indispensable for Hearing.

PubMed

Beer-Hammer, Sandra; Lee, Sze Chim; Mauriac, Stephanie A; Leiss, Veronika; Groh, Isabel A M; Novakovic, Ana; Piekorz, Roland P; Bucher, Kirsten; Chen, Chengfang; Ni, Kun; Singer, Wibke; Harasztosi, Csaba; Schimmang, Thomas; Zimmermann, Ulrike; Pfeffer, Klaus; Birnbaumer, Lutz; Forge, Andrew; Montcouquiol, Mireille; Knipper, Marlies; Nürnberg, Bernd; Rüttiger, Lukas

2018-06-21

From invertebrates to mammals, Gαi proteins act together with their common binding partner Gpsm2 to govern cell polarization and planar organization in virtually any polarized cell. Recently, we demonstrated that Gαi3-deficiency in pre-hearing murine cochleae pointed to a role of Gαi3 for asymmetric migration of the kinocilium as well as the orientation and shape of the stereociliary ("hair") bundle, a requirement for the progression of mature hearing. We found that the lack of Gαi3 impairs stereociliary elongation and hair bundle shape in high-frequency cochlear regions, linked to elevated hearing thresholds for high-frequency sound. How these morphological defects translate into hearing phenotypes is not clear. Here, we studied global and conditional Gnai3 and Gnai2 mouse mutants deficient for either one or both Gαi proteins. Comparative analyses of global versus Foxg1-driven conditional mutants that mainly delete in the inner ear and telencephalon in combination with functional tests were applied to dissect essential and redundant functions of different Gαi isoforms and to assign specific defects to outer or inner hair cells, the auditory nerve, satellite cells or central auditory neurons. Here we report that lack of Gαi3 but not of the ubiquitously expressed Gαi2 elevates hearing threshold, accompanied by impaired hair bundle elongation and shape in high-frequency cochlear regions. During the crucial reprogramming of the immature inner hair cell (IHC) synapse into a functional sensory synapse of the mature IHC deficiency for Gαi2 or Gαi3 had no impact. In contrast, double-deficiency for Gαi2 and Gαi3 isoforms results in abnormalities along the entire tonotopic axis including profound deafness associated with stereocilia defects. In these mice, postnatal IHC synapse maturation is also impaired. In addition, the analysis of conditional versus global Gαi3-deficient mice revealed that the amplitude of ABR wave IV was disproportionally elevated in comparison to ABR wave I indicating that Gαi3 is selectively involved in generation of neural gain during auditory processing. We propose a so far unrecognized complexity of isoform-specific and overlapping Gαi protein functions particular during final differentiation processes. © 2018 The Author(s). Published by S. Karger AG, Basel.

Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?

PubMed Central

Kim, So Young; Kim, Ah Reum; Kim, Nayoung K. D.; Lee, Chung; Kim, Min Young; Jeon, Eun-Hee; Park, Woong-Yang; Choi, Byung Yoon

2016-01-01

Abstract The molecular etiology of nonsyndromic sensorineural hearing loss (SNHL) in subjects with only one detectable autosomal recessive GJB2 mutation is unclear. Here, we report GJB2 single heterozygotes with various final genetic diagnoses and suggest appropriate diagnostic strategies. A total of 160 subjects with SNHL without phenotypic markers were screened for GJB2 mutations. Single-nucleotide variants or structural variations within the DFNB1 locus or in other deafness genes were examined by Sanger sequencing, breakpoint PCR, and targeted exome sequencing (TES) of 129 deafness genes. We identified 27 subjects with two mutations and 10 subjects with only one detectable mutation in GJB2. The detection rate of the single GJB2 mutation among the 160 SNHL subjects in the present study (6.25%) was higher than 2.58% in normal hearing controls in Korean. The DFNB1 was clearly excluded as a molecular etiology in four (40%) subjects: other recessive deafness genes (N = 3) accounted for SNHL and the causative gene for the other non-DFNB1 subject (N = 1) was not identified. The etiology of additional two subjects was potentially explained by digenic etiology (N = 2) of GJB2 with MITF and GJB3, respectively. The contribution of the single GJB2 mutation in the four remaining subjects is unclear. Comprehensive diagnostic testing including TES is prerequisite for understanding GJB2 single heterozygotes. PMID:27057829

Whole-Exome Sequencing to Decipher the Genetic Heterogeneity of Hearing Loss in a Chinese Family with Deaf by Deaf Mating

PubMed Central

Qing, Jie; Yan, Denise; Zhou, Yuan; Liu, Qiong; Wu, Weijing; Xiao, Zian; Liu, Yuyuan; Liu, Jia; Du, Lilin; Xie, Dinghua; Liu, Xue Zhong

2014-01-01

Inherited deafness has been shown to have high genetic heterogeneity. For many decades, linkage analysis and candidate gene approaches have been the main tools to elucidate the genetics of hearing loss. However, this associated study design is costly, time-consuming, and unsuitable for small families. This is mainly due to the inadequate numbers of available affected individuals, locus heterogeneity, and assortative mating. Exome sequencing has now become technically feasible and a cost-effective method for detection of disease variants underlying Mendelian disorders due to the recent advances in next-generation sequencing (NGS) technologies. In the present study, we have combined both the Deafness Gene Mutation Detection Array and exome sequencing to identify deafness causative variants in a large Chinese composite family with deaf by deaf mating. The simultaneous screening of the 9 common deafness mutations using the allele-specific PCR based universal array, resulted in the identification of the 1555A>G in the mitochondrial DNA (mtDNA) 12S rRNA in affected individuals in one branch of the family. We then subjected the mutation-negative cases to exome sequencing and identified novel causative variants in the MYH14 and WFS1 genes. This report confirms the effective use of a NGS technique to detect pathogenic mutations in affected individuals who were not candidates for classical genetic studies. PMID:25289672

Evaluation of plasma membrane calcium/calmodulin-dependent ATPase isoform 4 as a potential target for fertility control.

PubMed

Cartwright, Elizabeth J; Neyses, Ludwig

2010-01-01

The array of contraceptives currently available is clearly inadequate and does not meet consumer demands since it is estimated that up to a quarter of all pregnancies worldwide are unintended. There is, therefore, an overwhelming global need to develop new effective, safe, ideally non-hormonal contraceptives for both male and female use. The contraceptive field, unlike other areas such as cancer, has a dearth of new targets. We have addressed this issue and propose that isoform 4 of the plasma membrane calcium ATPase is a potentially exciting novel target for fertility control. The plasma membrane calcium ATPase is a ubiquitously expressed calcium pump whose primary function in the majority of cells is to extrude calcium to the extracellular milieu. Two isoforms of this gene family, PMCA1 and PMCA4, are expressed in spermatozoa, with PMCA4 being the predominant isoform. Although this gene is ubiquitously expressed, its function is highly tissue-specific. Genetic deletion of PMCA4, in PMCA4 knockout mice, led to 100% infertility specifically in the male mutant mice due to a selective defect in sperm motility. It is important to note that the gene deletion did not affect normal mating characteristics in these mice. This phenotype was mimicked in wild-type sperm treated with the non-specific PMCA inhibitor 5-(and 6-) carboxyeosin diacetate succinimidyl ester; a proof-of-principle that inhibition of PMCA4 has potential importance in the control of fertility. This review outlines the potential for PMCA4 to be a novel target for fertility control by acting to inhibit sperm motility. It will outline the characteristics that make this target drugable and will describe methodologies to identify and validate novel inhibitors of this target.

Metabolism of two Go alpha isoforms in neuronal cells during differentiation.

PubMed

Brabet, P; Pantaloni, C; Bockaert, J; Homburger, V

1991-07-15

We have previously shown that undifferentiated N1E-115 neuroblastoma cells express only one isoform of Go alpha (pI = 5.8), whereas differentiated neuroblastoma cells expressed, in addition to this isoform, another Go alpha with a more acidic pI (5.55). Moreover, primary cultures of cerebellar granule cells, which are extremely well differentiated cells yielding a high density of synapses, expressed only a single Go alpha isoform with a pI of 5.55 (Brabet, P., Pantaloni, C., Rodriguez Martinez, J., Bockaert, J., and Homburger, V. (1990) J. Neurochem. 54, 1310-1320). In this report, using biosynthetic labeling with [35S]methionine and specific quantitative immunoprecipitation with a polyclonal antibody raised against the purified Go alpha protein, we have determined 1) the degradation rate of total Go alpha (sum of the two isoforms) in differentiated as well as in undifferentiated neuroblastoma cells and in cerebellar granule cells, 2) the degradation rates of each isoform in differentiated neuroblastoma cells. The t 1/2 for total Go alpha protein degradation was very different in the three neuronal cell populations and was 28 +/- 5 h (n = 5), 58 +/- 9 h (n = 5), and 154 +/- 22 h (n = 6) in undifferentiated, differentiated neuroblastoma, and granule cells, respectively. Using two-dimensional gel analysis of immunoprecipitates, we have also determined the individual t 1/2 for degradation of each Go alpha isoform in differentiated neuroblastoma cells, in which the two Go alpha isoforms were expressed. Results indicated that the two Go alpha isoforms exhibit similar t1/2 for degradation (49 +/- 5 h, n = 3). Thus, the t1/2 for degradation of the more basic Go alpha isoform is higher in differentiated neuroblastoma cells (49 +/- 5 h, n = 3) than in undifferentiated neuroblastoma cells (28 +/- 5 h, n = 5) which expressed only the more basic Go alpha isoform. It can be concluded that the degradation rate of the more basic Go alpha isoform is not a characteristic of the protein itself but depends on the state of the cell differentiation. The comparison between the t1/2 for degradation of the more acidic Go alpha isoform is differentiated neuroblastoma cells (51 +/- 6 h, n = 3) with that of cerebellar granule cells (154 +/- 22 h, n = 6) suggests that there is also a decrease in the degradation rate of the more acidic Go alpha isoform during differentiation.(ABSTRACT TRUNCATED AT 400 WORDS)

Pro- and antiangiogenic VEGF and its receptor status for the severity of diabetic retinopathy

PubMed Central

Mondal, Lakshmi K.; Borah, Prasanta K.; Bhattacharya, Chandra K.; Mahanta, Jagadish

2017-01-01

Purpose Alteration of pro- and antiangiogenic homeostasis of vascular endothelial growth factor (VEGF) isoforms in patients with hyperglycemia seems crucial but substantially unexplored at least quantitatively for diabetic retinopathy (DR). Therefore, in the present study we aimed to estimate the difference between the pro- (VEGF165a) and antiangiogenic (VEGF165b) VEGF isoforms and its soluble receptors for severity of DR. Methods The study included 123 participants (diabetic retinopathy: 81, diabetic control: 20, non-diabetic control: 22) from the Regional Institute of Ophthalmology, Kolkata. The protein levels of VEGF165a (proangiogenic), VEGF165b (antiangiogenic), VEGF receptor 1 (VEGFR1), VEGFR2, and VEGFR3 in plasma were determined with enzyme-linked immunosorbent assay (ELISA). Results An imbalance in VEGF homeostasis, a statistically significant concomitant increase (p<0.0001) in the level of VEGF165a and a decrease in the level of VEGF165b, was observed with the severity of the disease. Increased differences between VEGF165a and VEGF165b i.e. VEGF165a-b concomitantly increased statistically significantly with the severity of the disease (p<0.0001), patients with diffuse diabetic macular edema (DME) with proliferative DR (PDR) had the highest imbalance. The plasma soluble form of VEGFR2 concentration consistently increased statistically significantly with the severity of the disease (p<0.0001). Conclusions The increased difference or imbalance between the pro- (VEGF165a) and antiangiogenic (VEGF165b) homeostasis of the VEGF isoforms, seems crucial for an adverse prognosis of DR and may be a better explanatory marker compared with either VEGF isoform. PMID:28680264

High level over-expression of different NCX isoforms in HEK293 cell lines and primary neuronal cultures is protective following oxygen glucose deprivation.

PubMed

Cross, Jane L; Boulos, Sherif; Shepherd, Kate L; Craig, Amanda J; Lee, Sharon; Bakker, Anthony J; Knuckey, Neville W; Meloni, Bruno P

2012-07-01

In this study we have assessed sodium-calcium exchanger (NCX) protein over-expression on cell viability in primary rat cortical neuronal and HEK293 cell cultures when subjected to oxygen-glucose deprivation (OGD). In cortical neuronal cultures, NCX2 and NCX3 over-expression was achieved using adenoviral vectors, and following OGD increased neuronal survival from ≈20% for control vector treated cultures to ≈80% for both NCX isoforms. In addition, we demonstrated that NCX2 and NCX3 over-expression in cortical neuronal cultures enables neurons to maintain intracellular calcium at significantly lower levels than control vector treated cultures when exposed to high (9mM) extracellular calcium challenge. Further assessment of NCX activity during OGD was performed using HEK293 cell lines generated to over-express NCX1, NCX2 or NCX3 isoforms. While it was shown that NCX isoform expression differed considerably in the different HEK293 cell lines, high levels of NCX over-expression was associated with increased resistance to OGD. Taken together, our findings show that high levels of NCX over-expression increases neuronal and HEK293 cell survival following OGD, improves calcium management in neuronal cultures and provides additional support for NCX as a therapeutic target to reduce ischemic brain injury. Copyright © 2012 Elsevier Ireland Ltd and the Japan Neuroscience Society. All rights reserved.

Targeted mass spectrometric analysis of N-terminally truncated isoforms generated via alternative translation initiation.

PubMed

Kobayashi, Ryuji; Patenia, Rebecca; Ashizawa, Satoshi; Vykoukal, Jody

2009-07-21

Alternative translation initiation is a mechanism whereby functionally altered proteins are produced from a single mRNA. Internal initiation of translation generates N-terminally truncated protein isoforms, but such isoforms observed in immunoblot analysis are often overlooked or dismissed as degradation products. We identified an N-terminally truncated isoform of human Dok-1 with N-terminal acetylation as seen in the wild-type. This Dok-1 isoform exhibited distinct perinuclear localization whereas the wild-type protein was distributed throughout the cytoplasm. Targeted analysis of blocked N-terminal peptides provides rapid identification of protein isoforms and could be widely applied for the general evaluation of perplexing immunoblot bands.

Being a Deaf Role Model: Deaf People's Experiences of Working with Families and Deaf Young People

ERIC Educational Resources Information Center

Rogers, Katherine D.; Young, Alys M.

2011-01-01

The experiences of being a deaf role model have been little explored in the literature. This paper explores the role of the deaf role model as perceived by d/Deaf adults who carried out this role, when working with deaf young people, parents of deaf children, and professionals who work with them. The data were collected from part of the evaluation…

Relationship of serum bilirubin levels to ototoxicity and deafness in high-risk low-birth-weight infants.

PubMed

de Vries, L S; Lary, S; Dubowitz, L M

1985-09-01

During a 4-year period, 12 premature infants, all less than 34 weeks of gestation and all with a bilirubin level above 240 mumol/L (14 mg/dL) were determined to have bilateral sensorineural deafness. In order to to investigate how far the hyperbilirubinemia or any a associated factor might have been a causative factor, all infants of 34 weeks of gestation or less who had a serum bilirubin level above 240 mumol/L were investigated. For a period of 4 years, 99 infants meeting these criteria were classified as high risk or low risk on the basis of perinatal risk factors. Eight of the 22 high-risk infants with birth weight less than 1,500 g, but only two of 43 high-risk infants with birth weight greater than 1,500 g were deaf (P less than .05). The deaf infants were also matched with infants of normal hearing who had similar bilirubin levels and the same number of adverse perinatal factors. The mean duration of hyperbilirubinemia was significantly longer in the deaf infants (P less than .02), and they appeared to have a greater number of acidotic episodes while they were hyperbilirubinemic. These findings suggest that in healthy preterm infants with birth weight greater than 1,500 g, high bilirubin levels carry little risk, whereas a serum bilirubin level greater than 240 mumol/L in high-risk preterm infants with birth weight of 1,500 g or less is associated with a high risk of deafness.

Asymmetric Hearing During Development: The Aural Preference Syndrome and Treatment Options.

PubMed

Gordon, Karen; Henkin, Yael; Kral, Andrej

2015-07-01

Deafness affects ∼2 in 1000 children and is one of the most common congenital impairments. Permanent hearing loss can be treated by fitting hearing aids. More severe to profound deafness is an indication for cochlear implantation. Although newborn hearing screening programs have increased the identification of asymmetric hearing loss, parents and caregivers of children with single-sided deafness are often hesitant to pursue therapy for the deaf ear. Delayed intervention has consequences for recovery of hearing. It has long been reported that asymmetric hearing loss/single-sided deafness compromises speech and language development and educational outcomes in children. Recent studies in animal models of deafness and in children consistently show evidence of an "aural preference syndrome" in which single-sided deafness in early childhood reorganizes the developing auditory pathways toward the hearing ear, with weaker central representation of the deaf ear. Delayed therapy consequently compromises benefit for the deaf ear, with slow rates of improvement measured over time. Therefore, asymmetric hearing needs early identification and intervention. Providing early effective stimulation in both ears through appropriate fitting of auditory prostheses, including hearing aids and cochlear implants, within a sensitive period in development has a cardinal role for securing the function of the impaired ear and for restoring binaural/spatial hearing. The impacts of asymmetric hearing loss on the developing auditory system and on spoken language development have often been underestimated. Thus, the traditional minimalist approach to clinical management aimed at 1 functional ear should be modified on the basis of current evidence. Copyright © 2015 by the American Academy of Pediatrics.

Outcomes of cochlear implantation in deaf children of deaf parents: comparative study.

PubMed

Hassanzadeh, S

2012-10-01

This retrospective study compared the cochlear implantation outcomes of first- and second-generation deaf children. The study group consisted of seven deaf, cochlear-implanted children with deaf parents. An equal number of deaf children with normal-hearing parents were selected by matched sampling as a reference group. Participants were matched based on onset and severity of deafness, duration of deafness, age at cochlear implantation, duration of cochlear implantation, gender, and cochlear implant model. We used the Persian Auditory Perception Test for the Hearing Impaired, the Speech Intelligibility Rating scale, and the Sentence Imitation Test, in order to measure participants' speech perception, speech production and language development, respectively. Both groups of children showed auditory and speech development. However, the second-generation deaf children (i.e. deaf children of deaf parents) exceeded the cochlear implantation performance of the deaf children with hearing parents. This study confirms that second-generation deaf children exceed deaf children of hearing parents in terms of cochlear implantation performance. Encouraging deaf children to communicate in sign language from a very early age, before cochlear implantation, appears to improve their ability to learn spoken language after cochlear implantation.

Comparing Motor Development of Deaf Children of Deaf Parents and Deaf Children of Hearing Parents

ERIC Educational Resources Information Center

Lieberman, Lauren J.; Volding, Lori; Winnick, Joseph P.

2004-01-01

Deaf children of Deaf parents perform better academically (Ritter-Brinton & Stewart, 1992), linguistically (Courtin, 2000; M. Harris, 2001; Vaccari & Marschark, 1997), and socially (Hadadian & Rose, 1991; M. Harris, 2001) than Deaf children of hearing parents. Twenty-nine Deaf children in residential schools were assessed to determine if a…

Efficacy of Distortion Product Oto-Acoustic Emission (OAE)/Auditory Brainstem Evoked Response (ABR) Protocols in Universal Neonatal Hearing Screening and Detecting Hearing Loss in Children <2 Years of Age.

PubMed

Mishra, Girish; Sharma, Yojana; Mehta, Kanishk; Patel, Gunjan

2013-04-01

Deafness is commonest curable childhood handicap. Most remedies and programmes don't address this issue at childhood level leading to detrimental impact on development of newborns. Aims and objectives are (A) screen all newborns for deafness and detect prevalence of deafness in children less than 2 years of age. and (B) assess efficacy of multi-staged OAE/ABR protocol for hearing screening. Non-randomized, prospective study from August 2008 to August 2011. All infants underwent a series of oto-acoustic emission (OAE) and final confirmatory auditory brainstem evoked response (ABR) audiometry. Finally, out of 1,101 children, 1,069 children passed the test while 12 children had impaired hearing after final testing, confirmed by ABR. Positive predictive value of OAE after multiple test increased to 100 %. OAE-ABR test series is effective in screening neonates and multiple tests reduce economic burden. High risk screening will miss nearly 50 % deaf children, thus universal screening is indispensable in picking early deafness.

A content validity study of signs, symptoms and diseases/health problems expressed in LIBRAS1

PubMed Central

Aragão, Jamilly da Silva; de França, Inacia Sátiro Xavier; Coura, Alexsandro Silva; de Sousa, Francisco Stélio; Batista, Joana D'arc Lyra; Magalhães, Isabella Medeiros de Oliveira

2015-01-01

Objectives: to validate the content of signs, symptoms and diseases/health problems expressed in LIBRAS for people with deafness Method: methodological development study, which involved 36 people with deafness and three LIBRAS specialists. The study was conducted in three stages: investigation of the signs, symptoms and diseases/health problems, referred to by people with deafness, reported in a questionnaire; video recordings of how people with deafness express, through LIBRA, the signs, symptoms and diseases/health problems; and validation of the contents of the recordings of the expressions by LIBRAS specialists. Data were processed in a spreadsheet and analyzed using univariate tables, with absolute frequencies and percentages. The validation results were analyzed using the Content Validity Index (CVI). Results: 33 expressions in LIBRAS, of signs, symptoms and diseases/health problems were evaluated, and 28 expressions obtained a satisfactory CVI (1.00). Conclusions: the signs, symptoms and diseases/health problems expressed in LIBRAS presented validity, in the study region, for health professionals, especially nurses, for use in the clinical anamnesis of the nursing consultation for people with deafness. PMID:26625991

Cell-based neurotrophin treatment supports long-term auditory neuron survival in the deaf guinea pig.

PubMed

Gillespie, Lisa N; Zanin, Mark P; Shepherd, Robert K

2015-01-28

The cochlear implant provides auditory cues to profoundly deaf patients by electrically stimulating the primary auditory neurons (ANs) of the cochlea. However, ANs degenerate in deafness; the preservation of a robust AN target population, in combination with advances in cochlear implant technology, may provide improved hearing outcomes for cochlear implant patients. The exogenous delivery of neurotrophins such as brain-derived neurotrophic factor (BDNF) and neurotrophin-3 is well known to support AN survival in deafness, and cell-based therapies provide a potential clinically viable option for delivering neurotrophins into the deaf cochlea. This study utilized cells that were genetically modified to express BDNF and encapsulated in alginate microspheres, and investigated AN survival in the deaf guinea pig following (a) cell-based neurotrophin treatment in conjunction with chronic electrical stimulation from a cochlear implant, and (b) long-term cell-based neurotrophin delivery. In comparison to deafened controls, there was significantly greater AN survival following the cell-based neurotrophin treatment, and there were ongoing survival effects for at least six months. In addition, functional benefits were observed following cell-based neurotrophin treatment and chronic electrical stimulation, with a statistically significant decrease in electrically evoked auditory brainstem response thresholds observed during the experimental period. This study demonstrates that cell-based therapies, in conjunction with a cochlear implant, shows potential as a clinically transferable means of providing neurotrophin treatment to support AN survival in deafness. This technology also has the potential to deliver other therapeutic agents, and to be used in conjunction with other biomedical devices for the treatment of a variety of neurodegenerative conditions. Copyright © 2014 Elsevier B.V. All rights reserved.

Benefits of Sign Language Interpreting and Text Alternatives for Deaf Students' Classroom Learning

PubMed Central

Marschark, Marc; Leigh, Greg; Sapere, Patricia; Burnham, Denis; Convertino, Carol; Stinson, Michael; Knoors, Harry; Vervloed, Mathijs P. J.; Noble, William

2006-01-01

Four experiments examined the utility of real-time text in supporting deaf students' learning from lectures in postsecondary (Experiments 1 and 2) and secondary classrooms (Experiments 3 and 4). Experiment 1 compared the effects on learning of sign language interpreting, real-time text (C-Print), and both. Real-time text alone led to significantly higher performance by deaf students than the other two conditions, but performance by deaf students in all conditions was significantly below that of hearing peers who saw lectures without any support services. Experiment 2 compared interpreting and two forms of real-time text, C-Print and Communication Access Real-Time Translation, at immediate testing and after a 1-week delay (with study notes). No significant differences among support services were obtained at either testing. Experiment 3 also failed to reveal significant effects at immediate or delayed testing in a comparison of real-time text, direct (signed) instruction, and both. Experiment 4 found no significant differences between interpreting and interpreting plus real-time text on the learning of either new words or the content of television programs. Alternative accounts of the observed pattern of results are considered, but it is concluded that neither sign language interpreting nor real-time text have any inherent, generalized advantage over the other in supporting deaf students in secondary or postsecondary settings. Providing deaf students with both services simultaneously does not appear to provide any generalized benefit, at least for the kinds of materials utilized here. PMID:16928778

Benefits of sign language interpreting and text alternatives for deaf students' classroom learning.

PubMed

Marschark, Marc; Leigh, Greg; Sapere, Patricia; Burnham, Denis; Convertino, Carol; Stinson, Michael; Knoors, Harry; Vervloed, Mathijs P J; Noble, William

2006-01-01

Four experiments examined the utility of real-time text in supporting deaf students' learning from lectures in postsecondary (Experiments 1 and 2) and secondary classrooms (Experiments 3 and 4). Experiment 1 compared the effects on learning of sign language interpreting, real-time text (C-Print), and both. Real-time text alone led to significantly higher performance by deaf students than the other two conditions, but performance by deaf students in all conditions was significantly below that of hearing peers who saw lectures without any support services. Experiment 2 compared interpreting and two forms of real-time text, C-Print and Communication Access Real-Time Translation, at immediate testing and after a 1-week delay (with study notes). No significant differences among support services were obtained at either testing. Experiment 3 also failed to reveal significant effects at immediate or delayed testing in a comparison of real-time text, direct (signed) instruction, and both. Experiment 4 found no significant differences between interpreting and interpreting plus real-time text on the learning of either new words or the content of television programs. Alternative accounts of the observed pattern of results are considered, but it is concluded that neither sign language interpreting nor real-time text have any inherent, generalized advantage over the other in supporting deaf students in secondary or postsecondary settings. Providing deaf students with both services simultaneously does not appear to provide any generalized benefit, at least for the kinds of materials utilized here.

Short- and long-term memory are modulated by multiple isoforms of the fragile X mental retardation protein.

PubMed

Banerjee, Paromita; Schoenfeld, Brian P; Bell, Aaron J; Choi, Catherine H; Bradley, Michael P; Hinchey, Paul; Kollaros, Maria; Park, Jae H; McBride, Sean M J; Dockendorff, Thomas C

2010-05-12

The diversity of protein isoforms arising from alternative splicing is thought to modulate fine-tuning of synaptic plasticity. Fragile X mental retardation protein (FMRP), a neuronal RNA binding protein, exists in isoforms as a result of alternative splicing, but the contribution of these isoforms to neural plasticity are not well understood. We show that two isoforms of Drosophila melanogaster FMRP (dFMR1) have differential roles in mediating neural development and behavior functions conferred by the dfmr1 gene. These isoforms differ in the presence of a protein interaction module that is related to prion domains and is functionally conserved between FMRPs. Expression of both isoforms is necessary for optimal performance in tests of short- and long-term memory of courtship training. The presence or absence of the protein interaction domain may govern the types of ribonucleoprotein (RNP) complexes dFMR1 assembles into, with different RNPs regulating gene expression in a manner necessary for establishing distinct phases of memory formation.

Pilot for Alaska Students with Deaf-Blindness: Inclusion in Regular Classrooms (PALS). Final Performance Report, October 1, 1992 to September 30, 1995.

ERIC Educational Resources Information Center

Brown, DiAnn; Maiuri, Fran

This final report describes a pilot 3-year project in Alaska to include children with deaf-blindness in regular classrooms. The project established and supported two pilot sites for inclusion of students with deaf-blindness, one urban and one rural. As a result of the project, three out of four pilot site students moved from self-contained special…

AN ENZYME LINKED IMMUNOSORBENT ASSAY FOR THE HO-1 ISOFORM OF HEME OXYGENASE

EPA Science Inventory

AN ENZYME LINKED IMMUNOSORBENT ASSAY FOR THE HO-1 ISOFORM OF HEME OXYGENASE

Heme oxygenase (HO) occurs in biological tissues as two major isoforms HO-1 and HO-2. HO-1 is inducible by many treatments, particularly oxidative stress-related conditions such as depletion of gl...

Reading and Reading-Related Skills in Children Using Cochlear Implants: Prospects for the Influence of Cued Speech

ERIC Educational Resources Information Center

Bouton, Sophie; Bertoncini, Josiane; Serniclaes, Willy; Cole, Pascale

2011-01-01

We assessed the reading and reading-related skills (phonemic awareness and phonological short-term memory) of deaf children fitted with cochlear implants (CI), either exposed to cued speech early (before 2 years old) (CS+) or never (CS-). Their performance was compared to that of 2 hearing control groups, 1 matched for reading level (RL), and 1…

Calorimetric Study of Helix aspersa Maxima Hemocyanin Isoforms

PubMed Central

Raynova, Yuliana; Idakieva, Krassimira

2018-01-01

The thermal unfolding of hemocyanin isoforms, β-HaH and αD+N-HaH, isolated from the hemolymph of garden snails Helix aspersa maxima, was studied by means of differential scanning calorimetry (DSC). One transition, with an apparent transition temperature (Tm) at 79.88°C, was detected in the thermogram of β-HaH in 20 mM HEPES buffer, containing 0.1 M NaCl, 5 mM CaCl2, and 5 mM MgCl2, pH 7.0, at scan rate of 1.0°C min−1. By means of successive annealing procedure, two individual transitions were identified in the thermogram of αD+N-HaH. Denaturation of both hemocyanins was found to be an irreversible process. The scan-rate dependence of the calorimetric profiles indicated that the thermal unfolding of investigated hemocyanins was kinetically controlled. The thermal denaturation of the isoforms β-HaH and αD+N-HaH was described by the two-state irreversible model, and parameters of the Arrhenius equation were calculated. PMID:29686932

Black Deaf Individuals' Reading Skills: Influence of ASL, Culture, Family Characteristics, Reading Experience, and Education

ERIC Educational Resources Information Center

Myers, Candace; Clark, M. Diane; Musyoka, Millicent M.; Anderson, Melissa L.; Gilbert, Gizelle L.; Agyen, Selina; Hauser, Peter C.

2010-01-01

Previous research on the reading abilities of Deaf individuals from various cultural groups suggests that Black Deaf and Hispanic Deaf individuals lag behind their White Deaf peers. The present study compared the reading skills of Black Deaf and White Deaf individuals, investigating the influence of American Sign Language (ASL), culture, family…

Do sign language videos improve Web navigation for Deaf Signer users?

PubMed

Fajardo, Inmaculada; Parra, Elena; Cañas, José J

2010-01-01

The efficacy of video-based sign language (SL) navigation aids to improve Web search for Deaf Signers was tested by two experiments. Experiment 1 compared 2 navigation aids based on text hyperlinks linked to embedded SL videos, which differed in the spatial contiguity between the text hyperlink and SL video (contiguous vs. distant). Deaf Signers' performance was similar in Web search using both aids, but a positive correlation between their word categorization abilities and search efficiency appeared in the distant condition. In Experiment 2, the contiguous condition was compared with a text-only hyperlink condition. Deaf Signers became less disorientated (used shorter paths to find the target) in the text plus SL condition than in the text-only condition. In addition, the positive correlation between word categorization abilities and search only appeared in the text-only condition. These findings suggest that SL videos added to text hyperlinks improve Web search efficiency for Deaf Signers.

The missing link in language development of deaf and hard of hearing children: pragmatic language development.

PubMed

Goberis, Dianne; Beams, Dinah; Dalpes, Molly; Abrisch, Amanda; Baca, Rosalinda; Yoshinaga-Itano, Christine

2012-11-01

This article will provide information about the Pragmatics Checklist, which consists of 45 items and is scored as: (1) not present, (2) present but preverbal, (3) present with one to three words, and (4) present with complex language. Information for both children who are deaf or hard of hearing and those with normal hearing are presented. Children who are deaf or hard of hearing are significantly older when demonstrating skill with complex language than their normal hearing peers. In general, even at the age of 7 years, there are several items that are not mastered by 75% of the deaf or hard of hearing children. Additionally, the article will provide some suggestions of strategies that can be considered as a means to facilitate the development of these pragmatic language skills for children who are deaf or hard of hearing. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Developmental Disorders of Communication With Special Reference to Deaf Children With Additional Handicaps

ERIC Educational Resources Information Center

Denmark, John C.

1971-01-01

Reviews 9 examples of "non-communicating children" whose probelms stem from: 1) intellectual impairment; 2) mental illness; 3) congenital verbal agnosia; 4) physical disease; or, 5) early profound deafness. (MB)

First Trimester Pregnancy Loss and the Expression of Alternatively Spliced NKp30 Isoforms in Maternal Blood and Placental Tissue

PubMed Central

Shemesh, Avishai; Tirosh, Dan; Sheiner, Eyal; Benshalom-Tirosh, Neta; Brusilovsky, Michael; Segev, Rotem; Rosental, Benyamin; Porgador, Angel

2015-01-01

Capsule: We observed that first trimester pregnancy loss is associated with an altered expression profile of the three isoforms of the NK receptor NKp30 expressed by NKs in PBMC and placental tissue. In this study, we aimed to investigate whether first trimester pregnancy loss is associated with differences in expression of NKp30 splice variants (isoforms) in maternal peripheral blood or placental tissue. We conducted a prospective case–control study; a total of 33 women undergoing dilation and curettage due to first trimester pregnancy loss were further subdivided into groups with sporadic or recurrent pregnancy loss. The control group comprises women undergoing elective termination of pregnancy. The qPCR approach was employed to assess the relative expression of NKp30 isoforms as well as the total expression of NKp30 and NKp46 receptors between the selected groups. Results show that in both PBMC and placental tissue, NKp46 and NKp30 expressions were mildly elevated in the pregnancy loss groups compared with the elective group. In particular, NKp46 elevation was significant. Moreover, expression analysis of NKp30 isoforms manifested a different profile between PBMC and the placenta. NKp30-a and NKp30-b isoforms in the placental tissue, but not in PBMC, showed a significant increase in the pregnancy loss groups compared with the elective group. Placental expression of NKp30 activating isoforms-a and -b in the pregnancy loss groups was negatively correlated with PLGF expression. By contrast, placental expression of these isoforms in the elective group was positively correlated with TNFα, IL-10, and VEGF-A expression. The altered expression of NKp30 activating isoforms in placental tissue from patients with pregnancy loss compared to the elective group and the different correlations with cytokine expression point to the involvement of NKp30-mediated function in pregnancy loss. PMID:26082773

Meeting Global Deaf Peers, Visiting Ideal Deaf Places: Deaf Ways of Education Leading to Empowerment, an Exploratory Case Study

ERIC Educational Resources Information Center

De Clerck, Goedele A. M.

2007-01-01

In a Flemish case study, deaf role models revealed a moment of awakening, indicated by the Flemish sign WAKE-UP. Contact with deaf cultural rhetoric made them "wake up," and deconstruct and reconstruct their lives, a process represented by a "circle of deaf empowerment." Flemish deaf leaders mentioned acquiring this rhetoric…

Deaf persons' english reading levels and associations with epidemiological, educational, and cultural factors.

PubMed

Zazove, Philip; Meador, Helen E; Reed, Barbara D; Gorenflo, Daniel W

2013-01-01

One hundred six Michigan d/Deaf persons, part of a study evaluating how to improve d/Deaf persons' understanding of cancer prevention recommendations, had reading levels determined using the Test of Reading Comprehension, Syntactic Sentences. Respondents averaged 52 years old, 59% female, 84% Caucasian, 58% married, and 75% Deaf community members. The mean Test of Reading Comprehension, Syntactic Sentences score was 6.1 (women: 6.2, men: 6.0). Higher scores were associated with greater income (p = .02), employment (p = .01), education (high school p = .002, some college p < .001), English use (child at home, teacher in school, at home now: all p < .001), a hearing spouse (p = .003), hard of hearing/d/Deaf father (p = .02), losing hearing after age 20 years, believing smoking is bad (p < .001), speaking with and satisfaction with physicians and nurses (p < .001), good communication with (p = .01), and comfort discussing cancer with doctors (p < .001). Lower scores were associated with using American Sign Language with physicians and nurses (.019) and Deaf community membership (p = .02). In multivariate analysis, higher scores were associated with higher income, college degree, and teacher using English. Reading levels of a predominantly Deaf population were low. Higher income, college degree, and teacher using English were associated with higher reading levels.

A new haemocyanin in cuttlefish (Sepia officinalis) eggs: sequence analysis and relevance during ontogeny

PubMed Central

2014-01-01

Background Haemocyanin is the respiratory protein of most of the Mollusca. In cephalopods and gastropods at least two distinct isoforms are differentially expressed. However, their physiological purpose is unknown. For the common cuttlefish Sepia officinalis, three isoforms are known so far, whereas for only two of them the complete mRNA sequences are available. In this study, we sequenced the complete mRNA of the third haemocyanin isoform and measured the relative expression of all three isoforms during embryogenesis to reveal a potential ontogenetic relevance. Results The cDNA of isoform 3 clearly correlates to the known Sepia officinalis haemocyanin subunits consisting of eight functional units and an internal duplicated functional unit d. Our molecular phylogenetic analyses reveal the third isoform representing a potentially ancestral haemocyanin isoform, and the analyses of the expression of haemocyanin type 3 reveal that haemocyanin type 3 only can be observed within eggs and during early development. Isoforms 1 and 2 are absent at these stages. After hatching, isoform 3 is downregulated, and isoform 1 and 2 are upregulated. Conclusions Our study clearly shows an embryonic relevance of the third isoform, which will be further discussed in the light of the changes in the physiological function of haemocyanin during ontogeny. Taken together with the fact that it could also be the isoform closest related to the common ancestor of cuttlefish haemocyanin, the phylogeny of cuttlefish haemocyanin may be recapitulated during its ontogeny. PMID:24499521

Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons

PubMed Central

Li, He; Reksten, Tove Ragna; Ice, John A.; Kelly, Jennifer A.; Adrianto, Indra; Wang, Shaofeng; He, Bo; Grundahl, Kiely M.; Glenn, Stuart B.; Miceli-Richard, Corinne; Bowman, Simon; Lester, Sue; Eriksson, Per; Brun, Johan G.; Gøransson, Lasse G.; Harboe, Erna; Guthridge, Joel M.; Patel, Ketan; Adler, Adam J.; Farris, A. Darise; Brennan, Michael T.; Chodosh, James; Gopalakrishnan, Rajaram; Weisman, Michael H.; Venuturupalli, Swamy; Wallace, Daniel J.; Hefner, Kimberly S.; Houston, Glen D.; Hughes, Pamela J.; Lewis, David M.; Radfar, Lida; Vista, Evan S.; Rohrer, Michael D.; Stone, Donald U.; Vyse, Timothy J.; Harley, John B.; James, Judith A.; Turner, Sean; Alevizos, Ilias; Anaya, Juan-Manuel; Rhodus, Nelson L.; Segal, Barbara M.; Montgomery, Courtney G.; Scofield, R. Hal; Kovats, Susan; Mariette, Xavier; Witte, Torsten; Rischmueller, Maureen; Omdal, Roald; Lessard, Christopher J.; Sivils, Kathy L.

2017-01-01

Sjögren’s syndrome (SS) is a common, autoimmune exocrinopathy distinguished by keratoconjunctivitis sicca and xerostomia. Patients frequently develop serious complications including lymphoma, pulmonary dysfunction, neuropathy, vasculitis, and debilitating fatigue. Dysregulation of type I interferon (IFN) pathway is a prominent feature of SS and is correlated with increased autoantibody titers and disease severity. To identify genetic determinants of IFN pathway dysregulation in SS, we performed cis-expression quantitative trait locus (eQTL) analyses focusing on differentially expressed type I IFN-inducible transcripts identified through a transcriptome profiling study. Multiple cis-eQTLs were associated with transcript levels of 2'-5'-oligoadenylate synthetase 1 (OAS1) peaking at rs10774671 (PeQTL = 6.05 × 10−14). Association of rs10774671 with SS susceptibility was identified and confirmed through meta-analysis of two independent cohorts (Pmeta = 2.59 × 10−9; odds ratio = 0.75; 95% confidence interval = 0.66–0.86). The risk allele of rs10774671 shifts splicing of OAS1 from production of the p46 isoform to multiple alternative transcripts, including p42, p48, and p44. We found that the isoforms were differentially expressed within each genotype in controls and patients with and without autoantibodies. Furthermore, our results showed that the three alternatively spliced isoforms lacked translational response to type I IFN stimulation. The p48 and p44 isoforms also had impaired protein expression governed by the 3' end of the transcripts. The SS risk allele of rs10774671 has been shown by others to be associated with reduced OAS1 enzymatic activity and ability to clear viral infections, as well as reduced responsiveness to IFN treatment. Our results establish OAS1 as a risk locus for SS and support a potential role for defective viral clearance due to altered IFN response as a genetic pathophysiological basis of this complex autoimmune disease. PMID:28640813

Expression of membrane-bound and cytosolic guanylyl cyclases in the rat inner ear.

PubMed

Seebacher, T; Beitz, E; Kumagami, H; Wild, K; Ruppersberg, J P; Schultz, J E

1999-01-01

Membrane-bound guanylyl cyclases (GCs) are peptide hormone receptors whereas the cytosolic isoforms are receptors for nitric oxide. In the inner ear, the membrane-bound GCs may be involved in the regulation of fluid homeostasis and the cytosolic forms possibly play a role in signal processing and regulation of local blood flow. In this comprehensive study, we examined, qualitatively and quantitatively, the transcription pattern of all known GC isoforms in the inner ear from rat by RT-PCR. The tissues used were endolymphatic sac, stria vascularis, organ of Corti, organ of Corti outer hair cells, cochlear nerve, Reissner's membrane, vestibular dark cells, and vestibular sensory cells. We show that multiple particulate (GC-A, GC-B, GC-D, GC-E, GC-F and GC-G) and several subunits of the heterodimeric cytosolic GCs (alpha1, alpha2, beta1 and beta2) are expressed, albeit at highly different levels. GC-C was not found. GC-A and the soluble subunits alpha1 and beta1 were transcribed ubiquitously. GC-B was present in all tissues except stria vascularis, which contained GC-A and traces of GC-E and GC-G. GC-B was by far the predominant membrane-bound isoform in the organ of Corti (86%), Reissner's membrane (75%) and the vestibulum (80%). Surprisingly, GC-E, a retinal isoform, was detected in significant amounts in the cochlear nerve (8%) and in the organ of Corti (4%). Although the cytosolic GC is a heterodimer composed of an alpha and a beta subunit, the mRNA transcription of these subunits was not stoichiometric. Particularly in the vestibulum, the transcription of the beta1 subunits was at least four-fold higher than of the alpha1 subunit. The data are compatible with earlier suggestions that membrane receptor GCs may be involved in the control of inner ear electrolyte and fluid composition whereas NO-stimulated GC isoforms mainly participate in the regulation of blood flow and supporting cell physiology.

Protein isoform-specific validation defines multiple chloride intracellular channel and tropomyosin isoforms as serological biomarkers of ovarian cancer

PubMed Central

Tang, Hsin-Yao; Beer, Lynn A.; Tanyi, Janos L.; Zhang, Rugang; Liu, Qin; Speicher, David W.

2013-01-01

New serological biomarkers for early detection and clinical management of ovarian cancer are urgently needed, and many candidates have been reported. A major challenge frequently encountered when validating candidates in patients is establishing quantitative assays that distinguish between highly homologous proteins. The current study tested whether multiple members of two recently discovered ovarian cancer biomarker protein families, chloride intracellular channel (CLIC) proteins and tropomyosins (TPM), were detectable in ovarian cancer patient sera. A multiplexed, label-free multiple reaction monitoring (MRM) assay was established to target peptides specific to all detected CLIC and TPM family members, and their serum levels were quantitated for ovarian cancer patients and non-cancer controls. In addition to CLIC1 and TPM1, which were the proteins initially discovered in a xenograft mouse model, CLIC4, TPM2, TPM3, and TPM4 were present in ovarian cancer patient sera at significantly elevated levels compared with controls. Some of the additional biomarkers identified in this homolog-centric verification and validation approach may be superior to the previously identified biomarkers at discriminating between ovarian cancer and non-cancer patients. This demonstrates the importance of considering all potential protein homologs and using quantitative assays for cancer biomarker validation with well-defined isoform specificity. PMID:23792823

Identification and Characterization of Alternative Promoters, Transcripts and Protein Isoforms of Zebrafish R2 Gene

PubMed Central

Shang, Hanqiao; Li, Qing; Feng, Guohui; Cui, Zongbin

2011-01-01

Ribonucleotide reductase (RNR) is the rate-limiting enzyme in the de novo synthesis of deoxyribonucleoside triphosphates. Expression of RNR subunits is closely associated with DNA replication and repair. Mammalian RNR M2 subunit (R2) functions exclusively in DNA replication of normal cells due to its S phase-specific expression and late mitotic degradation. Herein, we demonstrate the control of R2 expression through alternative promoters, splicing and polyadenylation sites in zebrafish. Three functional R2 promoters were identified to generate six transcript variants with distinct 5′ termini. The proximal promoter contains a conserved E2F binding site and two CCAAT boxes, which are crucial for the transcription of R2 gene during cell cycle. Activity of the distal promoter can be induced by DNA damage to generate four transcript variants through alternative splicing. In addition, two novel splice variants were found to encode distinct N-truncated R2 isoforms containing residues for enzymatic activity but no KEN box essential for its proteolysis. These two N-truncated R2 isoforms remained in the cytoplasm and were able to interact with RNR M1 subunit (R1). Thus, our results suggest that multilayered mechanisms control the differential expression and function of zebrafish R2 gene during cell cycle and under genotoxic stress. PMID:21887375

Identification and characterization of alternative promoters, transcripts and protein isoforms of zebrafish R2 gene.

PubMed

Shang, Hanqiao; Li, Qing; Feng, Guohui; Cui, Zongbin

2011-01-01

Ribonucleotide reductase (RNR) is the rate-limiting enzyme in the de novo synthesis of deoxyribonucleoside triphosphates. Expression of RNR subunits is closely associated with DNA replication and repair. Mammalian RNR M2 subunit (R2) functions exclusively in DNA replication of normal cells due to its S phase-specific expression and late mitotic degradation. Herein, we demonstrate the control of R2 expression through alternative promoters, splicing and polyadenylation sites in zebrafish. Three functional R2 promoters were identified to generate six transcript variants with distinct 5' termini. The proximal promoter contains a conserved E2F binding site and two CCAAT boxes, which are crucial for the transcription of R2 gene during cell cycle. Activity of the distal promoter can be induced by DNA damage to generate four transcript variants through alternative splicing. In addition, two novel splice variants were found to encode distinct N-truncated R2 isoforms containing residues for enzymatic activity but no KEN box essential for its proteolysis. These two N-truncated R2 isoforms remained in the cytoplasm and were able to interact with RNR M1 subunit (R1). Thus, our results suggest that multilayered mechanisms control the differential expression and function of zebrafish R2 gene during cell cycle and under genotoxic stress.

RNA splicing and splicing regulator changes in prostate cancer pathology.

PubMed

Munkley, Jennifer; Livermore, Karen; Rajan, Prabhakar; Elliott, David J

2017-09-01

Changes in mRNA splice patterns have been associated with key pathological mechanisms in prostate cancer progression. The androgen receptor (abbreviated AR) transcription factor is a major driver of prostate cancer pathology and activated by androgen steroid hormones. Selection of alternative promoters by the activated AR can critically alter gene function by switching mRNA isoform production, including creating a pro-oncogenic isoform of the normally tumour suppressor gene TSC2. A number of androgen-regulated genes generate alternatively spliced mRNA isoforms, including a prostate-specific splice isoform of ST6GALNAC1 mRNA. ST6GALNAC1 encodes a sialyltransferase that catalyses the synthesis of the cancer-associated sTn antigen important for cell mobility. Genetic rearrangements occurring early in prostate cancer development place ERG oncogene expression under the control of the androgen-regulated TMPRSS2 promoter to hijack cell behaviour. This TMPRSS2-ERG fusion gene shows different patterns of alternative splicing in invasive versus localised prostate cancer. Alternative AR mRNA isoforms play a key role in the generation of prostate cancer drug resistance, by providing a mechanism through which prostate cancer cells can grow in limited serum androgen concentrations. A number of splicing regulator proteins change expression patterns in prostate cancer and may help drive key stages of disease progression. Up-regulation of SRRM4 establishes neuronal splicing patterns in neuroendocrine prostate cancer. The splicing regulators Sam68 and Tra2β increase expression in prostate cancer. The SR protein kinase SRPK1 that modulates the activity of SR proteins is up-regulated in prostate cancer and has already given encouraging results as a potential therapeutic target in mouse models.

Development of deaf identity: an ethnographic study.

PubMed

McIlroy, Guy; Storbeck, Claudine

2011-01-01

This ethnographic study explores the identity development of 9 deaf participants through the narratives of their educational experiences in either mainstream or special schools for the Deaf. This exploration goes beyond a binary conceptualization of deaf identity that allows for only the medical and social models and proposes a bicultural "dialogue model." This postmodern theoretical framework is used to examine the diversity of identities of deaf learners. The inclusion of the researcher's own fluid cross-cultural identity as a bicultural "DeaF" participant in this study provides an auto-ethnographic gateway into exploring the lives of other deaf, Deaf, or bicultural DeaF persons. The findings suggest that deaf identity is not a static concept but a complex ongoing quest for belonging, a quest that is bound up with the acceptance of being deaf while "finding one's voice" in a hearing-dominant society. Through the use of dialogue and narrative tools, the study challenges educators, parents, and researchers to broaden their understanding of how deaf identity, and the dignity associated with being a deaf person is constructed.

The type III inositol 1,4,5-trisphosphate receptor preferentially transmits apoptotic Ca2+ signals into mitochondria.

PubMed

Mendes, Carolina C P; Gomes, Dawidson A; Thompson, Mayerson; Souto, Natalia C; Goes, Tercio S; Goes, Alfredo M; Rodrigues, Michele A; Gomez, Marcus V; Nathanson, Michael H; Leite, M Fatima

2005-12-09

There are three isoforms of the inositol 1,4,5- trisphosphate receptor (InsP(3)R), each of which has a distinct effect on Ca(2+) signaling. However, it is not known whether each isoform similarly plays a distinct role in the activation of Ca(2+)-mediated events. To investigate this question, we examined the effects of each InsP(3)R isoform on transmission of Ca(2+) signals to mitochondria and induction of apoptosis. Each isoform was selectively silenced using isoform-specific small interfering RNA in Chinese hamster ovary cells, which express all three InsP(3)R isoforms. ATP-induced cytosolic Ca(2+) signaling patterns were altered, regardless of which isoform was silenced, but in a different fashion depending on the isoform. ATP also induced Ca(2+) signals in mitochondria, which were inhibited more effectively by silencing the type III InsP(3)R than by silencing either the type I or type II isoform. The type III isoform also co-localized most strongly with mitochondria. When apoptosis was induced by activation of either the extrinsic or intrinsic apoptotic pathway, induction was reduced most effectively by silencing the type III InsP(3)R. These findings provide evidence that the type III isoform of the InsP(3)R plays a special role in induction of apoptosis by preferentially transmitting Ca(2+) signals into mitochondria.

DeafSpace and the principles of universal design.

PubMed

Edwards, Claire; Harold, Gill

2014-01-01

Recent debates about the epistemological origins of Universal Design (UD) have questioned how far universalist design approaches can address the particularities and diversities of the human form through a series of standardised, technical responses. This article contributes to these debates by discussing an emergent architectural paradigm known as DeafSpace, which articulates a set of design principles originating from the d/Deaf community in the US. Commentary. DeafSpace has emerged as a design paradigm rooted in an expression of d/Deaf cultural identity based around sign language, rather than as a response designed to compensate for, or minimise, impairment. It distinguishes itself from UD by articulating a more user-centred design process, but its principles are arguably rooted in notions of d/Deaf identity based around consensus and homogeneity, with less attention paid to the socio-political contexts which shape diverse experiences of d/Deafness and the exclusion(s) of d/Deaf people from the built environment. While proponents of DeafSpace argue that UD and DeafSpace are not mutually exclusive, nor DeafSpace principles applicable only to d/Deaf people, questions remain about the type of spaces DeafSpace creates, most notably whether they lead to the creation of particularist spaces of and for the d/Deaf community, or reflect a set of design principles which can be embedded across a range of different environments. Implications for Rehabilitation UD as a basis for rehabilitation has been critiqued on the basis that creates "standardised", or universal solutions, thus negating the particularities of the human form. DeafSpace is an architectural paradigm rooted in socio-linguistic understandings of Deafness and the cultural identity of the Deaf community. It challenges UD's technocratic emphasis on minimising impairment and asserts design which is rooted in a more qualitative understanding of individuals' relationship with their environment. DeafSpace seeks to place the user more centrally in the design process and draw on the experiential knowledge of (Deaf) users. However, it has less to say about the often exclusionary socio-political relations which underlie the built environment and shape the diverse experience of deafness. DeafSpace raises questions about how the needs of particular groups can be met through UD principles and in turn whether DeafSpace principles lead to the creation of separate spaces for the D/deaf community.

Selective ablation of Ppp1cc gene in testicular germ cells causes oligo-teratozoospermia and infertility in mice.

PubMed

Sinha, Nilam; Puri, Pawan; Nairn, Angus C; Vijayaraghavan, Srinivasan

2013-11-01

The four isoforms of serine/threonine phosphoprotein phosphatase 1 (PP1), derived from three genes, are among the most conserved proteins known. The Ppp1cc gene encodes two alternatively spliced variants, PP1 gamma1 (PPP1CC1) and PP1 gamma2 (PPP1CC2). Global deletion of the Ppp1cc gene, which causes loss of both isoforms, results in male infertility due to impaired spermatogenesis. This phenotype was assumed to be due to the loss of PPP1CC2, which is abundant in testis. While PPP1CC2 is predominant, other PP1 isoforms are also expressed in testis. Given the significant homology between the four PP1 isoforms, the lack of compensation by the other PP1 isoforms for loss of one, only in testis, is surprising. Here we document, for the first time, expression patterns of the PP1 isoforms in postnatal developing and adult mouse testis. The timing and sites of testis expression of PPP1CC1 and PPP1CC2 in testis are nonoverlapping. PPP1CC2 is the only one of the four PP1 isoforms not detected in sertoli cells and spermatogonia. Conversely, PPP1CC2 may be the only PP1 isoform expressed in postmeiotic germ cells. Deletion of the Ppp1cc gene in germ cells at the differentiated spermatogonia stage of development and beyond in Stra8 promoter-driven Cre transgenic mice results in oligo-terato-asthenozoospermia and male infertility, thus phenocopying global Ppp1cc null (-/-) mice. Taken together, these results confirm that spermatogenic defects observed in the global Ppp1cc knockout mice and in mice expressing low levels of PPP1CC2 in testis are due to compromised functions of PPP1CC2 in meiotic and postmeiotic germ cells.

Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

PubMed

Nahar, Risha; Puri, Ratna D; Saxena, Renu; Verma, Ishwar C

2013-01-01

Surveys of attitudes of individuals with deafness and their families towards genetic testing or prenatal diagnosis have mostly been carried out in the West. It is expected that the perceptions and attitudes would vary amongst persons of different cultures and economic background. There is little information on the prevailing attitudes for genetic testing and prenatal diagnosis for deafness in developing countries. Therefore, this study evaluates the motivations of Indian people with inherited hearing loss towards such testing. Twenty-eight families with history of congenital hearing loss (23 hearing parents with child/family member with deafness, 4 couples with both partners having deafness and 1 parent and child with deafness) participated in a semi-structured survey investigating their interest, attitudes, and intentions for using genetic and prenatal testing for deafness. Participants opinioned that proper management and care of individuals with deafness were handicapped by limited rehabilitation facilities with significant financial and social burden. Nineteen (68%) opted for genetic testing. Twenty-six (93%) expressed high interest in prenatal diagnosis, while 19 (73%) would consider termination of an affected fetus. Three hearing couples, in whom the causative mutations were identified, opted for prenatal diagnosis. On testing, all the three fetuses were affected and the hearing parents elected to terminate the pregnancies. This study provides an insight into the contrasting perceptions towards hearing disability in India and its influence on the desirability of genetic testing and prenatal diagnosis. Copyright © 2012 Wiley Periodicals, Inc.

Myosin 7 and its adaptors link cadherins to actin.

PubMed

Yu, I-Mei; Planelles-Herrero, Vicente J; Sourigues, Yannick; Moussaoui, Dihia; Sirkia, Helena; Kikuti, Carlos; Stroebel, David; Titus, Margaret A; Houdusse, Anne

2017-06-29

Cadherin linkages between adjacent stereocilia and microvilli are essential for mechanotransduction and maintaining their organization. They are anchored to actin through interaction of their cytoplasmic domains with related tripartite complexes consisting of a class VII myosin and adaptor proteins: Myo7a/SANS/Harmonin in stereocilia and Myo7b/ANKS4B/Harmonin in microvilli. Here, we determine high-resolution structures of Myo7a and Myo7b C-terminal MyTH4-FERM domain (MF2) and unveil how they recognize harmonin using a novel binding mode. Systematic definition of interactions between domains of the tripartite complex elucidates how the complex assembles and prevents possible self-association of harmonin-a. Several Myo7a deafness mutants that map to the surface of MF2 disrupt harmonin binding, revealing the molecular basis for how they impact the formation of the tripartite complex and disrupt mechanotransduction. Our results also suggest how switching between different harmonin isoforms can regulate the formation of networks with Myo7a motors and coordinate force sensing in stereocilia.

Symptom and Surface: Disruptive Deafness and Medieval Medical Authority.

PubMed

Hsy, Jonathan

2016-12-01

This essay examines constructions of deafness in medieval culture, exploring how deaf experience disrupts authoritative discourses in three textual genres: medical treatise, literary fiction, and autobiographical writing. Medical manuals often present deafness as a physical defect, yet they also suggest how social conditions for deaf people can be transformed in lieu of treatment protocols. Fictional narratives tend to associate deafness with sin or social stigma, but they can also imagine deaf experience with a remarkable degree of sympathy and nuance. Autobiographical writing by deaf authors most vividly challenges diagnostic models of disability, exploring generative forms of perception that deafness can foster. In tracing the disruptive force that deaf experience exerts on perceived notions of textual authority, this essay reveals how medieval culture critiqued the diagnostic power of medical practitioners. Deafness does not simply function as a symptom of an individual problem or a metaphor for a spiritual or social condition; rather, deafness is a transformative capacity affording new modes of knowing self and other.

Assessment of the maximum voluntary arm muscle contraction in sign language for the deaf.

PubMed

Regalo, S C H; Teixeira, V R; Vitti, M; Chaves, T C; Hallak, J E C; Bevilaqua-Grossi, D; Siriani de Oliveira, A

2006-01-01

The purpose of this study was to investigate the levels of upper member muscles' activation of deaf individuals, who use the Brazilian sign language - LIBRAS, comparing these findings to volunteers with no postural deviations and normal hearing Forty eight volunteers divided into two groups comprising healthy and deaf subjects (24 volunteers for each group). The signs of rest were obtained with the volunteer maintaining the upper member in an anatomical position, but with the forearm flexed and sustained by the lower member. Maximum voluntary isometric contractions (MVIC) of the biceps, triceps, deltoid, and trapezius muscles were performed in the position of muscular function testing. Statistical analysis was performed using the SPSS-10.0. Continuous data with normal distribution were analyzed by ANOVA with the significance level of p < 0.01. The normalized electromyographic muscle data obtained in muscular rest do not show statistically significant differences among the studies muscles, in both groups. In the comparison of normalized RMS values obtained in MVIC, the mean values for the trapezius muscle of deaf group were statistically lower than control group. This study's results indicate there are no differences between the levels of muscular activation for arm biceps, arm triceps, and the anterior portion of the deltoid muscle between the mean normalized RMS values of deaf and healthy individuals.

Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.

PubMed

Jiang, Yi; Huang, Shasha; Deng, Tao; Wu, Lihua; Chen, Juan; Kang, Dongyang; Xu, Xiufeng; Li, Ruiyu; Han, Dongyi; Dai, Pu

2015-01-01

In China, approximately 30,000 babies are born with hearing impairment each year. However, the molecular factors causing congenital hearing impairment in the Xiamen area of Fujian province have not been evaluated. To provide accurate genetic testing and counseling in the Xiamen area, we investigated the molecular etiology of non-syndromic deafness in a deaf population from Xiamen. Unrelated students with hearing impairment (n = 155) who attended Xiamen Special Education School in Fujian Province were recruited for this study. Three common deafness-related genes, GJB2, SLC26A4, and mtDNA12SrRNA, were analyzed using all-exon sequencing. GJB2 mutations were detected in 27.1% (42/155) of the entire cohort. The non-syndromic hearing loss (NSHL) hotspot mutations c.109G>A (p.V37I) and c.235delC were found in this population, whereas the Caucasian hotspot mutation c.35delG was not. The allelic frequency of the c.109G>A mutation was 9.03% (28/310), slightly higher than that of c.235delC (8.39%, 26/310), which is the most common GJB2 mutation in most areas of China. The allelic frequency of the c.109G>A mutation was significantly higher in this Xiamen's deaf population than that in previously reported cohorts (P = 0.00). The SLC26A4 mutations were found in 16.77% (26/155) of this cohort. The most common pathogenic allele was c.IVS7-2A>G (6.13%, 19/310), and the second most common was the c.1079C>T (p.A360V) mutation (1.94%, 6/310) which has rarely been reported as a hotspot mutation in other studies. The mutation rate of mtDNA12SrRNA in this group was 3.87% (6/155), all being the m.A1555G mutation. These findings show the specificity of the common deaf gene-mutation spectrum in this area. According to this study, there were specific hotspot mutations in Xiamen deaf patients. Comprehensive sequencing analysis of the three common deaf genes can help portray the mutation spectrum and develop optimal testing strategies for deaf patients in this area.

Visual local and global processing in low-functioning deaf individuals with and without autism spectrum disorder.

PubMed

Maljaars, J P W; Noens, I L J; Scholte, E M; Verpoorten, R A W; van Berckelaer-Onnes, I A

2011-01-01

The ComFor study has indicated that individuals with intellectual disability (ID) and autism spectrum disorder (ASD) show enhanced visual local processing compared with individuals with ID only. Items of the ComFor with meaningless materials provided the best discrimination between the two samples. These results can be explained by the weak central coherence account. The main focus of the present study is to examine whether enhanced visual perception is also present in low-functioning deaf individuals with and without ASD compared with individuals with ID, and to evaluate the underlying cognitive style in deaf and hearing individuals with ASD. Different sorting tasks (selected from the ComFor) were administered from four subsamples: (1) individuals with ID (n = 68); (2) individuals with ID and ASD (n = 72); (3) individuals with ID and deafness (n = 22); and (4) individuals with ID, ASD and deafness (n = 15). Differences in performance on sorting tasks with meaningful and meaningless materials between the four subgroups were analysed. Age and level of functioning were taken into account. Analyses of covariance revealed that results of deaf individuals with ID and ASD are in line with the results of hearing individuals with ID and ASD. Both groups showed enhanced visual perception, especially on meaningless sorting tasks, when compared with hearing individuals with ID, but not compared with deaf individuals with ID. In ASD either with or without deafness, enhanced visual perception for meaningless information can be understood within the framework of the central coherence theory, whereas in deafness, enhancement in visual perception might be due to a more generally enhanced visual perception as a result of auditory deprivation. © 2010 The Authors. Journal of Intellectual Disability Research © 2010 Blackwell Publishing Ltd.

Targeting of the Nuclear Receptor Coativator Isoform Delta 3aib1 in Breast Cancer. Addendum

DTIC Science & Technology

2007-07-01

using a regulatable AIB1 directed ribozyme , resulted in reduced tumor growth in vivo. Overall, these data indicate a major role for AIB1 and its isoform...regulatable AIB1 directed ribozyme , resulted in reduced tumor growth in vivo. Overall, these data indicate a major role for AIB1 and its isoform ∆3AIB1 in

Crystallization and identification of the glycosylated moieties of two isoforms of the main allergen Hev b 2 and preliminary X-ray analysis of two polymorphs of isoform II

DOE Office of Scientific and Technical Information (OSTI.GOV)

Fuentes-Silva, D.; Mendoza-Hernández, G.; Stojanoff, V.

2007-09-01

Crystallization of important glycoenzymes involved in IgE-mediated latex allergy. Latex from Hevea brasiliensis contains several allergenic proteins that are involved in type I allergy. One of them is Hev b 2, which is a β-1,3-glucanase enzyme that exists in different isoforms with variable glycosylation content. Two glucanase isoforms were isolated from trees of the GV-42 clone by gel filtration, affinity and ion-exchange chromatography. Isoform I had a carbohydrate content of about 20%, with N-linked N-acetyl-glucosamine, N-acetyl-galactosamine, fucose and galactose residues as the main sugars, while isoform II showed 6% carbohydrate content constisting of N-acetyl-glucosamine, fucose, mannose and xylose. Both isoformsmore » were crystallized by the hanging-drop vapour-diffusion method. Isoform I crystals were grown using 0.2 M trisodium citrate dihydrate, 0.1 M Na HEPES pH 7.5 and 20%(v/v) 2-propanol, but these crystals were not appropriate for data collection. Isoform II crystals were obtained under two conditions and X-ray diffraction data were collected from both. In the first condition (0.2 M trisodium citrate, 0.1 M sodium cacodylate pH 6.5, 30% 2-propanol), crystals belonging to the tetragonal space group P4{sub 1} with unit-cell parameters a = b = 150.17, c = 77.41 Å were obtained. In the second condition [0.2 M ammonium acetate, 0.1 M trisodium citrate dihydrate pH 5.6, 30%(w/v) polyethylene glycol 4000] the isoform II crystals belonged to the monoclinic space group P2{sub 1}, with unit-cell parameters a = 85.08, b = 89.67, c = 101.80 Å, β = 113.6°. Preliminary analysis suggests that there are four molecules of isoform II in both asymmetric units.« less

A comparative study of structural and conformational properties of casein kinase-1 isoforms: insights from molecular dynamics and principal component analysis.

PubMed

Singh, Surya Pratap; Gupta, Dwijendra K

2015-04-21

Wnt signaling pathway regulates several developmental processes in human; however recently this pathway has been associated with development of different types of cancers. Casein kinase-1 (CK1) constitutes a family of serine-threonine protein kinase; various members of this family participate in Wnt signal transduction pathway and serve as molecular switch to this pathway. Among the known six isoforms of CK1, in human, at least three isoforms (viz. alpha, delta and epsilon) have been reported as oncogenic. The development of common therapeutics against these kinases is an arduous task; unless we have the detailed information of their tertiary structures and conformational properties. In the present work, the dynamical and conformational properties for each of three isoforms of CK1 are explored through molecular dynamics (MD) simulations. The conformational space distribution of backbone atoms is evaluated using principal component analysis of MD data, which are further validated on the basis of potential energy surface. Based on these analytics, it is suggested that conformational subspace shifts upon binding to ligands and guides the kinase action of CK1 isoforms. Further, this paper as a first effort to concurrently study all the three isoforms of CK1 provides structural basis for development of common anticancer therapeutics against three isoforms of CK1. Copyright © 2015 Elsevier Ltd. All rights reserved.

Distinct Interactions of EBP1 Isoforms with FBXW7 Elicits Different Functions in Cancer

DOE PAGES

Wang, Yuli; Zhang, Pengju; Wang, Yunshan; ...

2017-02-16

The ErbB3 receptor–binding protein EBP1 encodes two alternatively spliced isoforms P48 and P42. While there is evidence of differential roles for these isoforms in tumorigenesis, little is known about their underlying mechanisms. In this paper, we demonstrate that EBP1 isoforms interact with the SCF-type ubiquitin ligase FBXW7 in distinct ways to exert opposing roles in tumorigenesis. EBP1 P48 bound to the WD domain of FBXW7 as an oncogenic substrate of FBXW7. EBP1 P48 binding sequestered FBXW7α to the cytosol, modulating its role in protein degradation and attenuating its tumor suppressor function. In contrast, EBP1 P42 bound to both the F-boxmore » domain of FBXW7 as well as FBXW7 substrates. This adapter function of EBP1 P42 stabilized the interaction of FBXW7 with its substrates and promoted FBXW7-mediated degradation of oncogenic targets, enhancing its overall tumor-suppressing function. Finally and overall, our results establish distinct physical and functional interactions between FBXW7 and EBP1 isoforms, which yield their mechanistically unique isoform-specific functions of EBP1 in cancer.« less

Friendship and Emotion Control in Pre-Adolescents With or Without Hearing Loss.

PubMed

Rieffe, Carolien; Broekhof, Evelien; Eichengreen, Adva; Kouwenberg, Maartje; Veiga, Guida; da Silva, Brenda M S; van der Laan, Anneke; Frijns, Johan H M

2018-05-04

Emotional functioning plays a crucial role in the social development of children and adolescents. We examined the extent to which emotion control was related to the quality of friendships in pre-adolescents with and without hearing loss. We tested 350 pre-adolescents (75 deaf/hard of hearing in mainstream education (DHHm), 48 deaf/hard of hearing in special education (DHHs), and 227 hearing) through self-report. Outcomes confirmed a positive association between emotion control and positive friendships for all groups, with one notable exception: more approach strategies for emotion regulation were associated with more negative friendship features in the DHHs group. In addition, the DHHm group demonstrated high levels of emotion control, while their levels of positive friendship features were still lower compared to the hearing group.

In vivo regulation of the beta-myosin heavy chain gene in soleus muscle of suspended and weight-bearing rats

NASA Technical Reports Server (NTRS)

Giger, J. M.; Haddad, F.; Qin, A. X.; Baldwin, K. M.

2000-01-01

In the weight-bearing hindlimb soleus muscle of the rat, approximately 90% of muscle fibers express the beta-myosin heavy chain (beta-MHC) isoform protein. Hindlimb suspension (HS) causes the MHC isoform population to shift from beta toward the fast MHC isoforms. Our aim was to establish a model to test the hypothesis that this shift in expression is transcriptionally regulated through specific cis elements of the beta-MHC promoter. With the use of a direct gene transfer approach, we determined the activity of different length beta-MHC promoter fragments, linked to a firefly luciferase reporter gene, in soleus muscle of control and HS rats. In weight-bearing rats, the relative luciferase activity of the longest beta-promoter fragment (-3500 bp) was threefold higher than the shorter promoter constructs, which suggests that an enhancer sequence is present in the upstream promoter region. After 1 wk of HS, the reporter activities of the -3500-, -914-, and -408-bp promoter constructs were significantly reduced ( approximately 40%), compared with the control muscles. However, using the -215-bp construct, no differences in promoter activity were observed between HS and control muscles, which indicates that the response to HS in the rodent appears to be regulated within the -408 and -215 bp of the promoter.

South African Deaf Education and the Deaf Community

ERIC Educational Resources Information Center

Storbeck, Claudine, Ed.; Martin, David, Ed.

2010-01-01

In a special section of the "American Annals of the Deaf", Deaf education and the Deaf community in South Africa are discussed. The special section is organized into 7 segments: a historical overview to establish context, the educational context, educators and learners, postgraduate education and employment, perspectives of Deaf children…

Deaf Epistemology: Deafhood and Deafness

ERIC Educational Resources Information Center

Hauser, Peter C.; O'Hearn, Amanda; McKee, Michael; Steider, Anne; Thew, Denise

2010-01-01

Deaf epistemology constitutes the nature and extent of the knowledge that deaf individuals acquire growing up in a society that relies primarily on audition to navigate life. Deafness creates beings who are more visually oriented compared to their auditorily oriented peers. How hearing individuals interact with deaf individuals shapes how deaf…

Practitioner Talk on Deaf Children's Reading Comprehension: Analysing Multiple Voices

ERIC Educational Resources Information Center

Swanwick, Ruth A.; Kitchen, Ruth; Clarke, Paula J.

2012-01-01

This study examined different perspectives of deaf education practitioners on deafness and reading comprehension. This involved a full deaf education support team comprising teachers of the deaf, communication support workers, and deaf instructors from a UK citywide service covering early years, primary and secondary settings. Using a focus group…

Deaf Sociality and the Deaf Lutheran Church in Adamorobe, Ghana

ERIC Educational Resources Information Center

Kusters, Annelies

2014-01-01

This article provides an ethnographic analysis of "deaf sociality" in Adamorobe, a village in Ghana, where the relatively high prevalence of hereditary deafness has led to dense social and spatial connections. Deaf people are part of their hearing environment particularly through family networks, and produce deaf sociality through many…

Comparative two-dimensional polyacrylamide gel electrophoresis (2D-PAGE) of human milk to identify dysregulated proteins in breast cancer.

PubMed

Aslebagh, Roshanak; Channaveerappa, Devika; Arcaro, Kathleen F; Darie, Costel C

2018-05-13

Breast cancer (BC) remains a major cause of mortality, and early detection is considered important for reducing BC-associated deaths. Early detection of BC is challenging in young women, due to the limitations of mammography on the dense breast tissue of young women. We recently reported results of a pilot proteomics study, using one-dimensional polyacrylamide gel electrophoresis (1D-PAGE) and mass spectrometry (MS) to investigate differences in milk proteins from women with and without BC. Here, we applied two-dimensional polyacrylamide gel electrophoresis (2D-PAGE) and MS to compare the protein pattern in milk from the breasts of a single woman who was diagnosed with BC in one breast 24 months after donating her milk. Statistically different gel spots were picked for protein digestion followed by nanoliquid chromatography tandem MS (nanoLC-MS/MS) analysis. The upregulated proteins in BC versus control are alpha-amylase, gelsolin isoform a precursor, alpha-2-glycoprotein 1 zinc isoform CRA_b partial, apoptosis-inducing factor 2 and vitronectin. Several proteins were downregulated in the milk of the breast later diagnosed with cancer as compared to the milk from the healthy breast, including different isoforms of albumin, cholesterol esterase, different isoforms of lactoferrin, different proteins from the casein family and different isoforms of lysozyme. Results warrant further studies to determine the usefulness of these milk proteins for assessing risk and detecting occult disease. MS data is available via ProteomeXchange with identifier PXD009860. © 2018 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Consonant and Vowel Identification in Cochlear Implant Users Measured by Nonsense Words: A Systematic Review and Meta-Analysis.

PubMed

Rødvik, Arne Kirkhorn; von Koss Torkildsen, Janne; Wie, Ona Bø; Storaker, Marit Aarvaag; Silvola, Juha Tapio

2018-04-17

The purpose of this systematic review and meta-analysis was to establish a baseline of the vowel and consonant identification scores in prelingually and postlingually deaf users of multichannel cochlear implants (CIs) tested with consonant-vowel-consonant and vowel-consonant-vowel nonsense syllables. Six electronic databases were searched for peer-reviewed articles reporting consonant and vowel identification scores in CI users measured by nonsense words. Relevant studies were independently assessed and screened by 2 reviewers. Consonant and vowel identification scores were presented in forest plots and compared between studies in a meta-analysis. Forty-seven articles with 50 studies, including 647 participants, thereof 581 postlingually deaf and 66 prelingually deaf, met the inclusion criteria of this study. The mean performance on vowel identification tasks for the postlingually deaf CI users was 76.8% (N = 5), which was higher than the mean performance for the prelingually deaf CI users (67.7%; N = 1). The mean performance on consonant identification tasks for the postlingually deaf CI users was higher (58.4%; N = 44) than for the prelingually deaf CI users (46.7%; N = 6). The most common consonant confusions were found between those with same manner of articulation (/k/ as /t/, /m/ as /n/, and /p/ as /t/). The mean performance on consonant identification tasks for the prelingually and postlingually deaf CI users was found. There were no statistically significant differences between the scores for prelingually and postlingually deaf CI users. The consonants that were incorrectly identified were typically confused with other consonants with the same acoustic properties, namely, voicing, duration, nasality, and silent gaps. A univariate metaregression model, although not statistically significant, indicated that duration of implant use in postlingually deaf adults predict a substantial portion of their consonant identification ability. As there is no ceiling effect, a nonsense syllable identification test may be a useful addition to the standard test battery in audiology clinics when assessing the speech perception of CI users.

Smooth muscle myosin isoform expression and LC20 phosphorylation in innate rat airway hyperresponsiveness.

PubMed

Gil, Fulvio R; Zitouni, Nedjma B; Azoulay, Eric; Maghni, Karim; Lauzon, Anne-Marie

2006-11-01

Four smooth muscle myosin heavy chain (SMMHC) isoforms are generated by alternative mRNA splicing of a single gene. Two of these isoforms differ by the presence [(+)insert] or absence [(-)insert] of a 7-amino acid insert in the motor domain. The rate of actin filament propulsion of the (+)insert SMMHC isoform, as measured in the in vitro motility assay, is twofold greater than that of the (-)insert isoform. We hypothesized that a greater expression of the (+)insert SMMHC isoform and greater regulatory light chain (LC(20)) phosphorylation contribute to airway hyperresponsiveness. We measured airway responsiveness to methacholine in Fischer hyperresponsive and Lewis normoresponsive rats and determined SMMHC isoform mRNA and protein expression, as well as essential light chain (LC(17)) isoforms, h-caldesmon, and alpha-actin protein expression in their tracheae. We also measured tracheal muscle strip contractility in response to methacholine and corresponding LC(20) phosphorylation. We found Fischer rats have more (+)insert mRNA (69.4 +/- 2.0%) (mean +/- SE) than Lewis rats (53.0 +/- 2.4%; P < 0.05) and a 44% greater content of (+)insert isoform relative to total myosin protein. No difference was found for LC(17) isoform, h-caldesmon, and alpha-actin expression. The contractility experiments revealed a greater isometric force for Fischer trachealis segments (4.2 +/- 0.8 mN) than Lewis (1.9 +/- 0.4 mN; P < 0.05) and greater LC(20) phosphorylation level in Fischer (55.1 +/- 6.4) than in Lewis (41.4 +/- 6.1; P < 0.05) rats. These results further support the contention that innate airway hyperresponsiveness is a multifactorial disorder in which increased expression of the fast (+)insert SMMHC isoform and greater activation of LC(20) lead to smooth muscle hypercontractility.

Differential expression and induction of two carbonic anhydrase isoforms in the gills of the euryhaline green crab, Carcinus maenas, in response to low salinity.

PubMed

Serrano, Laetitia; Henry, Raymond P

2008-06-01

Two isoforms of the enzyme carbonic anhydrase (CA) from the gills of the euryhaline green crab were sequenced and identified; these were found to match the cytoplasmic (CAc) and membrane-associated (CAg) isoforms known from other species. The mRNA of the membrane-associated isoform is present in significantly higher levels of abundance in gills of crabs acclimated to 32 ppt, at which the crab is an osmotic and ionic conformer. Upon transfer to low salinity (15 ppt), in which the crab is an osmoregulator, however, the cytoplasmic isoform undergoes a rapid 100-fold increase in abundance in the posterior gills, becoming the dominant isoform. CAg increases 3-fold initially and then remains elevated through 14 days of low salinity acclimation. The induction of CAc mRNA is believed to be the molecular basis for the 20 fold increase in CA protein-specific activity during low salinity acclimation. The initial increase in CAc mRNA takes place at 6 h, and maximal levels of expression are achieved by 24 h; this precedes the induction of CA activity and is within the time in which hemolymph osmotic and ionic concentrations stabilize at new acclimated levels. The increase in expression of the CAg isoform is believed to be more closely related to changes in the population of branchial chloride cells. Changes in the relative abundance of mRNA for the alpha-subunit of the Na(+)/K(+)-ATPase were smaller in magnitude than those for CAc, but the timing was similar. There were no changes in expression of a control gene, arginine kinase (AK) in posterior gills, and there were no significant changes in expression in anterior gills for any of the genes measured here. These results support the use of a control tissue (anterior gills) in addition to a control gene for expression studies.

Assessment of state- and territorial-level preparedness capacity for serving deaf and hard-of-hearing populations in disasters.

PubMed

Ivey, Susan L; Tseng, Winston; Dahrouge, Donna; Engelman, Alina; Neuhauser, Linda; Huang, Debbie; Gurung, Sidhanta

2014-01-01

Substantial evidence exists that emergency preparedness and response efforts are not effectively reaching populations with functional and access needs, especially barriers related to literacy, language, culture, or disabilities. More than 36 million Americans are Deaf or hard of hearing (Deaf/HH). These groups experienced higher risks of injury, death, and property loss in recent disasters than the general public. We conducted a participatory research study to examine national recommendations on preparedness communication for the Deaf/HH. We assessed whether previous recommendations regarding the Deaf/HH have been incorporated into state- and territorial-level emergency operations plans (EOPs), interviewed state- and territorial-level preparedness directors about capacity to serve the Deaf/HH, and proposed strategies to benefit Deaf/HH populations during emergencies. We analyzed 55 EOPs and 50 key informant (KI) interviews with state directors. Fifty-five percent of EOPs mentioned vulnerable populations; however, only 31% specifically mentioned Deaf/HH populations in their plan. Study findings indicated significant relationships among the following factors: a state-level KI's familiarity with communication issues for the Deaf/HH, making relay calls (i.e., calls to services to relay communication between Deaf and hearing people), and whether the KI's department provides trainings about serving Deaf/HH populations in emergencies. We found significant associations between a state's percentage of Deaf/HH individuals and a KI's familiarity with Deaf/HH communication issues and provision by government of any disability services to Deaf/HH populations in emergencies. Further, we found significant relationships between KIs attending training on serving the Deaf/HH and familiarity with Deaf/HH communication issues, including how to make relay calls. This study provides new knowledge that can help emergency agencies improve their preparedness training, planning, and capacity to serve Deaf/HH populations in emergencies.

Imperatoxin a enhances Ca(2+) release in developing skeletal muscle containing ryanodine receptor type 3.

PubMed Central

Nabhani, Thomas; Zhu, Xinsheng; Simeoni, Ilenia; Sorrentino, Vincenzo; Valdivia, Héctor H; García, Jesús

2002-01-01

Most adult mammalian skeletal muscles contain only one isoform of ryanodine receptor (RyR1), whereas neonatal muscles contain two isoforms (RyR1 and RyR3). Membrane depolarization fails to evoke calcium release in muscle cells lacking RyR1, demonstrating an essential role for this isoform in excitation-contraction coupling. In contrast, the role of RyR3 is unknown. We studied the participation of RyR3 in calcium release in wild type (containing both RyR1 and RyR3 isoforms) and RyR3-/- (containing only RyR1) myotubes in the presence or absence of imperatoxin A (IpTxa), a high-affinity agonist of ryanodine receptors. IpTxa significantly increased the amplitude and the rate of release only in wild-type myotubes. Calcium currents, recorded simultaneously with the transients, were not altered with IpTxa treatment. [(3)H]ryanodine binding to RyR1 or RyR3 was significantly increased in the presence of IpTxa. Additionally, IpTxa modified the gating and conductance level of single RyR1 or RyR3 channels when studied in lipid bilayers. Our data show that IpTxa can interact with both RyRs and that RyR3 is functional in myotubes and it can amplify the calcium release signal initiated by RyR1, perhaps through a calcium-induced mechanism. In addition, our data indicate that when RyR3-/- myotubes are voltage-clamped, the effect of IpTxa is not detected because RyR1s are under the control of the dihydropyridine receptor. PMID:11867448

Tactile short-term memory in sensory-deprived individuals.

PubMed

Papagno, Costanza; Minniti, Giovanna; Mattavelli, Giulia C; Mantovan, Lara; Cecchetto, Carlo

2017-02-01

To verify whether loosing a sense or two has consequences on a spared sensory modality, namely touch, and whether these consequences depend on practice or are biologically determined, we investigated 13 deafblind participants, 16 deaf participants, 15 blind participants, and 13 matched normally sighted and hearing controls on a tactile short-term memory task, using checkerboard matrices of increasing length in which half of the squares were made up of a rough texture and half of a smooth one. Time of execution of a fixed matrix, number of correctly reproduced matrices, largest matrix correctly reproduced and tactile span were recorded. The three groups of sensory-deprived individuals did not differ in any measure, while blind and deaf participants outscored controls in all parameters except time of execution; the difference approached significance for deafblind people compared to controls only in one measure, namely correctly reproduced matrices. In blind and deafblind participants, performance negatively correlated with age of Braille acquisition, the older being the subject when acquiring Braille, the lower the performance, suggesting that practice plays a role. However, the fact that deaf participants, who did not share tactile experience, performed similarly to blind participants and significantly better than controls highlights that practice cannot be the only contribution to better tactile memory.

The Effects of Educational Multimedia for Scientific Signs in the Holy Quran in Improving the Creative Thinking Skills for Deaf Children

NASA Astrophysics Data System (ADS)

Abusaleh, Sumaya; Abdelfattah, Eman; Alabadi, Zain; Sharieh, Ahmad

This paper investigates the role of the scientific signs in the holy Quran in improving the creative thinking skills for the deaf children using multimedia. The paper investigates if the performance made by the experimental group's individuals is statistically significant compared with the performance made by the control group's individuals on Torrance Test for creative thinking (fluency, flexibility, originality and the total degree) in two cases:

Association of the HNK-1 epitope with the detergent-soluble G4 isoform of acetylcholinesterase from human neuroblastoma cells.

PubMed

Johnson, G; Moore, S W

2001-07-01

The HNK-1 carbohydrate epitope is expressed in neural and natural killer cells and is a mediator of cell adhesion. It is well documented that acetylcholinesterase has a secondary function in cell adhesion and differentiation. The presence of HNK-1 on isoforms of Torpedo and Electrophorus acetylcholinesterase, as well as isoforms from the bovine central nervous system has been described. In this paper, we have investigated the association of the epitope with acetylcholinesterase from human neuroblastoma cells. Acetylcholinesterase was extracted, with or without detergent, purified on immunoaffinity columns and the isoforms separated by sucrose density gradient sedimentation. Secreted acetylcholinesterase, from spent serum-free culture medium, was similarly treated. The presence of the HNK-1 epitope was determined by ELISA using the anti-HNK-1 and Elec 39 monoclonal antibodies. The epitope was found to be associated with the detergent-soluble G4 isoform, but not with the hydrophilic G1 nor the secreted hydrophilic G4 isoforms. Likewise, no HNK-1 was observed associated with human erythrocyte acetylcholinesterase. These results indicate that acetylcholinesterase-G4, anchored in the extracellular membrane, is capable of mediating cell-substrate adhesion through HNK-1.

Plectin isoforms as organizers of intermediate filament cytoarchitecture

PubMed Central

Winter, Lilli

2011-01-01

Intermediate filaments (IFs) form cytoplamic and nuclear networks that provide cells with mechanical strength. Perturbation of this structural support causes cell and tissue fragility and accounts for a number of human genetic diseases. In recent years, important additional roles, nonmechanical in nature, were ascribed to IFs, including regulation of signaling pathways that control survival and growth of the cells, and vectorial processes such as protein targeting in polarized cellular settings. The cytolinker protein plectin anchors IF networks to junctional complexes, the nuclear envelope and cytoplasmic organelles and it mediates their cross talk with the actin and tubulin cytoskeleton. These functions empower plectin to wield significant influence over IF network cytoarchitecture. Moreover, the unusual diversity of plectin isoforms with different N termini and a common IF-binding (C-terminal) domain enables these isoforms to specifically associate with and thereby bridge IF networks to distinct cellular structures. Here we review the evidence for IF cytoarchitecture being controlled by specific plectin isoforms in different cell systems, including fibroblasts, endothelial cells, lens fibers, lymphocytes, myocytes, keratinocytes, neurons and astrocytes, and discuss what impact the absence of these isoforms has on IF cytoarchitecture-dependent cellular functions. PMID:21866256

Use of Isoform-Specific UGT Metabolism to Determine and Describe Rates and Profiles of Glucuronidation of Wogonin and Oroxylin A by Human Liver and Intestinal Microsomes

PubMed Central

Zhou, Qiong; Zheng, Zhijie; Xia, Bijun; Tang, Lan; Lv, Chang; Liu, Wei; Liu, Zhongqiu; Hu, Ming

2010-01-01

Purposes Glucuronidation via UDP-glucuronosyltransferases (or UGTs) is a major metabolic pathway. The purposes of this study are to determine the UGT-isoform specific metabolic fingerprint (or GSMF) of wogonin and oroxylin A, and to use isoform-specific metabolism rates and kinetics to determine and describe their glucuronidation behaviors in tissue microsomes. Methods In vitro glucuronidation rates and profiles were measured using expressed UGTs and human intestinal and liver microsomes. Results GSMF experiments indicated that both flavonoids were metabolized mainly by UGT1As, with major contributions from UGT1A3 and UGT1A7-1A10. Isoform-specific metabolism showed that kinetic profiles obtained using expressed UGT1A3 and UGT1A7-1A10 could fit to known kinetic models. Glucuronidation of both flavonoids in human intestinal and liver microsomes followed simple Michaelis-Menten kinetics. A comparison of the kinetic parameters and profiles suggests that UGT1A9 is likely the main isoform responsible for liver metabolism. In contrast, a combination of UGT1As with a major contribution from UGT1A10 contributed to their intestinal metabolism. Correlation studies clearly showed that UGT isoform-specific metabolism could describe their metabolism rates and profiles in human liver and intestinal microsomes. Conclusion GSMF and isoform-specific metabolism profiles can determine and describe glucuronidation rates and profiles in human tissue microsomes. PMID:20411407

Osteoblast gene expression is differentially regulated by TGF-beta isoforms.

PubMed

Fagenholz, P J; Warren, S M; Greenwald, J A; Bouletreau, P J; Spector, J A; Crisera, F E; Longaker, M T

2001-03-01

The transforming growth factor beta (TGF-beta) superfamily encompasses a number of important growth factors including several TGF-beta isoforms, the bone morphogenetic proteins, activins, inhibins, and growth and differentiation factors. TGF-beta 1, -beta 2, and -beta 3 are three closely related isoforms that are widely expressed during skeletal morphogenesis and bone repair. Numerous studies suggest that each isoform has unique in vivo functions; however, the effects of these TGF-beta isoforms on osteoblast gene expression and maturation have never been directly compared. In the current study, we treated undifferentiated neonatal rat calvaria osteoblast-enriched cell cultures with 2.5 ng/ml of each TGF-beta isoform and analyzed gene expression at 0, 3, 6, and 24 hours. We demonstrated unique isoform-specific regulation of endogenous TGF-beta 1 and type I collagen mRNA transcription. To assess the effects of extended TGF-beta treatment on osteoblast maturation, we differentiated osteoblast cultures in the presence of 2.5 ng/ml of each TGF-beta isoform. Analysis of collagen I, alkaline phosphatase, and osteocalcin demonstrated that each TGF-beta isoform uniquely suppressed the transcription of these osteoblast differentiation markers. Interestingly, TGF-beta isoform treatment increased osteopontin expression in primary osteoblasts after 4 and 10 days of differentiation. To our knowledge, these data provide the first direct comparison of the effects of the TGF-beta isoforms on osteoblast gene expression in vitro. Furthermore, these data suggest that TGF-beta isoforms may exert their unique in vivo effects by differentially regulating osteoblast cytokine secretion, extracellular matrix production, and the rate of cellular maturation.

Supporting Deaf Students--and All Students

ERIC Educational Resources Information Center

Yuknis, Christina; Santini, Joseph; Appanah, Thangi

2017-01-01

Two faculty members and a Ph.D. student at Gallaudet University, the world's only university for the deaf, explain the concept of Deaf-Gain, which reframes the idea of hearing loss into one of gaining deafness and recognizes the contributions that deaf people make to society. This narrative assumes that deaf students and all students bring…

Explorative study on isoform-selective histone deacetylase inhibitors.

PubMed

Suzuki, Takayoshi

2009-09-01

Histone deacetylases (HDACs) catalyze the deacetylation of the acetylated lysine residues of histones and non-histone proteins, and are involved in various fundamental life phenomena, such as gene expression and cell cycle progression. Thus far, eighteen HDAC family members (HDAC1-11 and SIRT1-7) have been identified, but the functions of the HDAC isoforms are not yet fully understood. In addition, some of the HDAC isoforms have been suggested to be associated with various disease states, including cancer and neurodegenerative disorders. Therefore, isoform-selective HDAC inhibitors are of great interest, not only as tools for probing the biological functions of the isoforms, but also as candidate therapeutic agents with few side effects. It was against this background that we initiated research programs to identify isoform-selective HDAC inhibitors. We designed HDAC inhibitors based on the three-dimensional structure of the enzyme and on the proposed catalytic mechanism of HDACs, and found several isoform-selective HDAC inhibitors. Furthermore, we elucidated the functions of HDAC6 by chemical genetic approaches using these inhibitors. The results of this research also suggested the feasibility of using isoform-selective HDAC inhibitors as therapeutic agents.

Campus Life and the Development of Postsecondary Deaf and Hard of Hearing Students: Principles and Practices. [A Report of the] National Task Force on Quality of Services in the Postsecondary Education of Deaf and Hard of Hearing Students.

ERIC Educational Resources Information Center

Porter, Jeff; Camerlengo, Renee; DePuye, Maggie; Sommer, Mark

This report discusses the needs of postsecondary education students who are deaf or hard of hearing and presents strategies for ensuring educational accessibility to campus services and programs. Part 1 considers general issues which characterize the process of student development in postsecondary education. It closes with the a brief discussion…

The effect of captivity and diet on KLH isoform ratios in Megathura crenulata.

PubMed

Oakes, Frank R; McTee, Sarah; McMullen, John; Culver, Carolynn S; Morse, Daniel E

2004-06-01

Aquaculture of the giant keyhole limpet, Megathura crenulata, may provide a reliable long-term supply of keyhole limpet hemocyanin (KLH) for many promising biomedical applications. However, previous studies have reported a complete loss of the KLH1 isoform under certain cultivation conditions. We examined whether captivity per se and diet caused a significant change in the isoform profile of M. crenulata. Although there was a trend toward a decreasing percentage of KLH1 in some animals, in general isoform profiles were not significantly affected by captivity or dietary limitations. Further, the percentage of KLH1 significantly increased for limpets with previously low levels of KLH1 when fed a supplemental mixed diet. Our results indicate that normal isoform profiles can be maintained in limpets held in captivity even when fed insufficient diets, and that these conditions do not cause a complete loss of either KLH isoform. Notably, the enhancement of abnormally low levels of KLH1 suggests that variability in isoform profiles could potentially be minimized through diet. While there is a need for further research on the factors responsible for the variability of KLH, overall, these results support the premise that culture of M. crenulata may provide a sustainable source of this biomedically important product.

Influence of fast and slow alkali myosin light chain isoforms on the kinetics of stretch-induced force transients of fast-twitch type IIA fibres of rat.

PubMed

Andruchov, Oleg; Galler, Stefan

2008-03-01

This study contributes to understand the physiological role of slow myosin light chain isoforms in fast-twitch type IIA fibres of skeletal muscle. These isoforms are often attached to the myosin necks of rat type IIA fibres, whereby the slow alkali myosin light chain isoform MLC1s is much more frequent and abundant than the slow regulatory myosin light chain isoform MLC2s. In the present study, single-skinned rat type IIA fibres were maximally Ca(2+) activated and subjected to stepwise stretches for causing a perturbation of myosin head pulling cycles. From the time course of the resulting force transients, myosin head kinetics was deduced. Fibres containing MLC1s exhibited slower kinetics independently of the presence or absence of MLC2s. At the maximal MLC1s concentration of about 75%, the slowing was about 40%. The slowing effect of MLC1s is possibly due to differences in the myosin heavy chain binding sites of the fast and slow alkali MLC isoforms, which changes the rigidity of the myosin neck. Compared with the impact of myosin heavy chain isoforms in various fast-twitch fibre types, the influence of MLC1s on myosin head kinetics of type IIA fibres is much smaller. In conclusion, the physiological role of fast and slow MLC isoforms in type IIA fibres is a fine-tuning of the myosin head kinetics.

Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?

PubMed

Leone, Piero; Galluccio, Michele; Barbiroli, Alberto; Eberini, Ivano; Tolomeo, Maria; Vrenna, Flavia; Gianazza, Elisabetta; Iametti, Stefania; Bonomi, Francesco; Indiveri, Cesare; Barile, Maria

2018-01-06

FAD synthase (FADS, EC 2.7.7.2) is the last essential enzyme involved in the pathway of biosynthesis of Flavin cofactors starting from Riboflavin (Rf). Alternative splicing of the human FLAD1 gene generates different isoforms of the enzyme FAD synthase. Besides the well characterized isoform 1 and 2, other FADS isoforms with different catalytic domains have been detected, which are splice variants. We report the characterization of one of these novel isoforms, a 320 amino acid protein, consisting of the sole C-terminal 3'-phosphoadenosine 5'-phosphosulfate (PAPS) reductase domain (named FADS6). This isoform has been previously detected in Riboflavin-Responsive (RR-MADD) and Non-responsive Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) patients with frameshift mutations of FLAD1 gene. To functionally characterize the hFADS6, it has been over-expressed in Escherichia coli and purified with a yield of 25 mg·L -1 of cell culture. The protein has a monomeric form, it binds FAD and is able to catalyze FAD synthesis (k cat about 2.8 min -1 ), as well as FAD pyrophosphorolysis in a strictly Mg 2+ -dependent manner. The synthesis of FAD is inhibited by HgCl₂. The enzyme lacks the ability to hydrolyze FAD. It behaves similarly to PAPS. Combining threading and ab-initio strategy a 3D structural model for such isoform has been built. The relevance to human physio-pathology of this FADS isoform is discussed.

Evaluation of the occurrence of canine congenital sensorineural deafness in puppies of predisposed dog breeds using the brainstem auditory evoked response.

PubMed

Płonek, Marta; Giza, Elżbieta; Niedźwiedź, Artur; Kubiak, Krzysztof; Nicpoń, Józef; Wrzosek, Marcin

2016-12-01

Canine congenital sensorineural deafness (CCSD) affects predisposed breeds of dogs and is primarily caused by an atrophy of the stria vascularis of the organ of Corti. The analysis of the brainstem auditory evoked response (BAER) is a reliable method for the evaluation of hearing in animals as it allows an accurate detection of unilateral or bilateral deafness. The occurrence of unilateral and bilateral deafness using the BAER was determined in a representative group of dogs in Poland, including Bull Terriers (n = 117), Australian Cattle Dogs (n = 62), English Setters (n = 32) and the Dogo Argentino (n = 32). Overall deafness, deafness in each dog breed and an association between deafness and phenotype were studied. Among the 243 dogs tested, 156 (81%) had a normal BAER, 27 (11%) were unilaterally deaf, and 12 (5%) were bilaterally deaf. The amplitudes and latencies of waves I, II, III, V, the V/I wave amplitude ratio, and wave I-V, I-III and III-V inter-peak intervals were recorded for each dog. Unilaterally and bilaterally deaf dogs were present in all the dog breeds studied. There were 17 (14.5%) deaf Bull Terriers, three (4.8%) deaf Australian Cattle Dogs, seven (21.9%) deaf English Setters, and 12 (37.5%) deaf Dogos Argentinos. Preventive BAER screening should be routinely performed in these four breeds to prevent the spread of genes responsible for deafness.

Roles of different IRES-dependent FGF2 isoforms in the acquisition of the major aggressive features of human metastatic melanoma.

PubMed

Andreucci, Elena; Bianchini, Francesca; Biagioni, Alessio; Del Rosso, Mario; Papucci, Laura; Schiavone, Nicola; Magnelli, Lucia

2017-01-01

Fibroblast growth factor 2 (FGF2) is involved in many physiological and pathological processes. Fgf2 deregulation contributes to the acquisition of malignant features of melanoma and other cancers. FGF2 is an alternative translation product expressed as five isoforms, a low-molecular-weight (18 KDa) and four high-molecular-weight (22, 22.5, 24, 34 KDa) isoforms, with different subcellular distributions. An internal ribosomal entry site (IRES) in its mRNA controls the translation of all the isoforms with the exception for the cap-dependent 34 KDa. The 18-KDa isoform has been extensively studied, while very few is known about the roles of high molecular weight isoforms. FGF2 is known to promote melanoma development and progression. To disclose the differential contribution of FGF2 isoforms in melanoma, we forced the expression of IRES-dependent low-molecular-weight (LMW, 18 KDa) and high-molecular-weight (HMW, 22, 22.5, 24 KDa) isoforms in a human metastatic melanoma cell line. This comparative study highlights that, while LMW isoform confers stem-like features to melanoma cells and promotes angiogenesis, HMW isoforms induce higher migratory ability and contribute to tumor perfusion by promoting vasculogenic mimicry (VM) when endothelial cell-driven angiogenesis is lacking. To conclude, FGF2 isoforms mainly behave in specific, antithetical manners, but can cooperate in different steps of tumor progression, providing melanoma cells with major malignant features. FGF2 is an alternative translation product expressed as different isoforms termed LMW and HMW. FGF2 is involved in melanoma development and progression. HMW FGF2 isoforms enhance in vitro motility of melanoma cells. LMW FGF2 confers stem-like features and increases in vivo metastasization. LMW FGF2 promotes angiogenesis while HMW FGF2 induces vasculogenic mimicry.

Comparison of the Handy Eye Chart and the Lea Symbols Chart in a population of deaf children aged 7–18 years

PubMed Central

Gorham, John Paul; Bruce, Beau B.; Hutchinson, Amy K.

2016-01-01

Purpose To compare the results of visual acuity testing in a population of deaf children using the Handy Eye Chart versus the Lea Symbols Chart and to compare testability and preference between charts. Methods A total of 24 participants were recruited at the Atlanta Area School for the Deaf. Visual Acuity was evaluated using the Handy Eye Chart and the Lea Symbols Chart. Patient preference and duration of testing were measured. Results The mean difference between the visual acuity as measured by each chart was –0.02 logMAR (95% CI, −0.06 to 0.03). Testing with the Handy Eye Chart was an average of 13.79 seconds faster than testing with the Lea Symbols Chart (95% CI, 1.1–26.47; P = 0.03). Of the 24 participants, 17 (71%) preferred the Handy Eye Chart (95% CI: 49%–87%; P = 0.07). Conclusions The Handy Eye Chart is a fast, valid, and preferred tool for measuring visual acuity in deaf children age 7–18 years. Additional research is needed to evaluate the utility of the Handy Eye Chart in younger children and deaf adults. PMID:27164427

Nimble negotiators: How theory of mind (ToM) interconnects with persuasion skills in children with and without ToM delay.

PubMed

Peterson, Candida C; Slaughter, Virginia; Wellman, Henry M

2018-03-01

Persuasion is an essential social skill. Yet its development and underpinnings are poorly understood. In 2 studies, a total of 167 children aged 3 to 12 years took theory of mind (ToM) tests and participated in unscripted, seminaturalistic persuasive conversations. Children were typically developing (TD) or had deafness or autism spectrum disorder (ASD). High-level, informationally rich persuasive arguments increased with age in all groups in both studies, as did ToM. In both studies, ToM scores predicted persuasion skill over and above age, language ability, and deafness/ASD status. In Study 1, TD 8-year-olds outperformed age-matched deaf and autistic children in ToM but only equaled them in persuasive skill. Study 2 employed more challenging persuasion tasks and revealed superior persuasion performance by school-aged TD children compared with same-aged children with deafness or ASD. Deaf and ASD groups did better on Study 1's straightforward persuasion tasks than on Study 2's more challenging ones, whereas TD children rose to the added challenge without their persuasion performance suffering. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Chinese deaf adolescents' free recall of taxonomic, slot-filler, and thematic categories.

PubMed

Li, Degao; Zhang, Jijia

2009-08-01

Four experiments were conducted to show that deaf adolescents tended to process information in different ways from hearing adolescents. Memorizing items sequentially shown on computer screens under the control of their articulators' movements, deaf adolescents tended to treat items that cohered as taxonomic, thematic, or slot-filler categories as isolated pieces of information. Having to perceive information by means of sign language, however, their achievements were not worse than those of hearing adolescents anymore, no matter whether the stimuli were presented as words or pictures. They could not only utilize categories relations to help memorize categories exemplars but were relatively better aware of slot-filler or thematic than taxonomic relations as well, suggesting that they had a relatively delayed development of taxonomic category representations in comparison with hearing adolescents.

Cultural Competence Training for Law Enforcement Responding to Domestic Violence Emergencies With the Deaf and Hard of Hearing: A Mixed-Methods Evaluation.

PubMed

Engelman, Alina; Deardorff, Julianna

2016-03-01

To evaluate a training workshop for law enforcement as first responders for the purpose of increasing officers' cultural competency in working with Deaf and hard-of-hearing people (Deaf/HH) during domestic violence (DV) emergencies. This evaluation assesses the efficacy of a 2-hour training workshop for law enforcement. Thirty-four participants completed questionnaires at pre- and postintervention to assess participants' (1) satisfaction with training; (2) skills in responding to Deaf/HH individual(s) in a DV emergency; (3) attitudes toward the Deaf/HH, including bias recognition, self-assessment of cultural competency, and perceived self-efficacy; and (4) knowledge of communication. Focus groups (FGs) were also conducted (n = 6 for FG1, n = 13 for FG2). SPSS software was used to analyze survey data; principal components analysis was conducted on the survey instruments. There were significant differences between pre- and posttests for several targeted outcomes, including knowledge and perceived self-efficacy. Both survey and FG results demonstrated that participants gained cultural competency skills as indicated by changes in attitudes toward the Deaf/HH, both in DV emergencies and in large-scale emergencies. Significant differences were evident between pre and posttest results in terms of knowledge and perceived self-efficacy. Nonetheless, survey participants demonstrated a lack of knowledge about policy and the law. Survey findings also suggest that while a onetime training can improve the perceived self-efficacy of participants, shifting attitudes about the capabilities of the Deaf/HH may require different training strategies. FG participants demonstrated a greater awareness of the complexity of working with this population in a DV emergency. © 2015 Society for Public Health Education.

Critical health literacy in American deaf college students.

PubMed

Kushalnagar, Poorna; Ryan, Claire; Smith, Scott; Kushalnagar, Raja

2017-05-24

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. We asked two questions to assess the frequency of health-related discussions with friends and families: "How often do you discuss health-related information with your friends" and "How often do you discuss your family medical history with your family?". Participants rated their experience on a scale from 1-5 (1=never, 5=always). To assess CHL, 38 deaf and 38 hearing participants were shown a short scenario that showed a woman confiding in her friend after finding a lump in her breast. Participants were then asked what the friend should say. Responses were scored by a team of 3 raters using a CHL rubric. As predicted, results showed a strong relationship between discussion of health-related information with friends and CHL in both deaf and hearing samples. Discussion with family was linked to CHL only for hearing participants, but not deaf participants in our study. These findings underscore the importance of socializing with health-literate, accessible peers to improve the health literacy and health outcomes of all deaf people. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells

PubMed Central

Morozko, Eva L.; Nishio, Ayako; Ingham, Neil J.; Chandra, Rashmi; Fitzgerald, Tracy; Martelletti, Elisa; Borck, Guntram; Wilson, Elizabeth; Riordan, Gavin P.; Wangemann, Philine; Forge, Andrew; Steel, Karen P.; Liddle, Rodger A.; Friedman, Thomas B.; Belyantseva, Inna A.

2015-01-01

In the mammalian inner ear, bicellular and tricellular tight junctions (tTJs) seal the paracellular space between epithelial cells. Tricellulin and immunoglobulin-like (Ig-like) domain containing receptor 1 (ILDR1, also referred to as angulin-2) localize to tTJs of the sensory and non-sensory epithelia in the organ of Corti and vestibular end organs. Recessive mutations of TRIC (DFNB49) encoding tricellulin and ILDR1 (DFNB42) cause human nonsyndromic deafness. However, the pathophysiology of DFNB42 deafness remains unknown. ILDR1 was recently reported to be a lipoprotein receptor mediating the secretion of the fat-stimulated cholecystokinin (CCK) hormone in the small intestine, while ILDR1 in EpH4 mouse mammary epithelial cells in vitro was shown to recruit tricellulin to tTJs. Here we show that two different mouse Ildr1 mutant alleles have early-onset severe deafness associated with a rapid degeneration of cochlear hair cells (HCs) but have a normal endocochlear potential. ILDR1 is not required for recruitment of tricellulin to tTJs in the cochlea in vivo; however, tricellulin becomes mislocalized in the inner ear sensory epithelia of ILDR1 null mice after the first postnatal week. As revealed by freeze-fracture electron microscopy, ILDR1 contributes to the ultrastructure of inner ear tTJs. Taken together, our data provide insight into the pathophysiology of human DFNB42 deafness and demonstrate that ILDR1 is crucial for normal hearing by maintaining the structural and functional integrity of tTJs, which are critical for the survival of auditory neurosensory HCs. PMID:25217574

Selective Deletion of the Brain-Specific Isoform of Renin Causes Neurogenic Hypertension.

PubMed

Shinohara, Keisuke; Liu, Xuebo; Morgan, Donald A; Davis, Deborah R; Sequeira-Lopez, Maria Luisa S; Cassell, Martin D; Grobe, Justin L; Rahmouni, Kamal; Sigmund, Curt D

2016-12-01

The renin-angiotensin system (RAS) in the brain is a critical determinant of blood pressure, but the mechanisms regulating RAS activity in the brain remain unclear. Expression of brain renin (renin-b) occurs from an alternative promoter-first exon. The predicted translation product is a nonsecreted enzymatically active renin whose function is unknown. We generated a unique mouse model by selectively ablating the brain-specific isoform of renin (renin-b) while preserving the expression and function of the classical isoform expressed in the kidney (renin-a). Preservation of renal renin was confirmed by measurements of renin gene expression and immunohistochemistry. Surprisingly, renin-b-deficient mice exhibited hypertension, increased sympathetic nerve activity to the kidney and heart, and impaired baroreflex sensitivity. Whereas these mice displayed decreased circulating RAS activity, there was a paradoxical increase in brain RAS activity. Physiologically, renin-b-deficient mice exhibited an exaggerated depressor response to intracerebroventricular administration of losartan, captopril, or aliskiren. At the molecular level, renin-b-deficient mice exhibited increased expression of angiotensin-II type 1 receptor in the paraventricular nucleus, which correlated with an increased renal sympathetic nerve response to leptin, which was dependent on angiotensin-II type 1 receptor activity. Interestingly, despite an ablation of renin-b expression, expression of renin-a was significantly increased in rostral ventrolateral medulla. These data support a new paradigm for the genetic control of RAS activity in the brain by a coordinated regulation of the renin isoforms, with expression of renin-b tonically inhibiting expression of renin-a under baseline conditions. Impairment of this control mechanism causes neurogenic hypertension. © 2016 American Heart Association, Inc.

Not silent, invisible: literature's chance encounters with deaf heroes and heroines.

PubMed

McDonald, Donna M

2010-01-01

Literature is both a rich resource and a blunt instrument in conveying the complexities of identity, in particular, the elusive deaf identity. The rarity of the fully realized deaf person in memoir and fiction shapes the way readers regard deaf people and throws up fresh challenges in redesigning stories of deafness free of the taint of triumphalism or complaint. Competing but authentic representations of deafness and deaf people's experiences allow readers to variously witness, immerse themselves in, and navigate their way through those experiences. Consequently, establishing universal truths about deaf lives is a risky business and an improbable goal.

Alk5/Runx1 signaling mediated by extracellular vesicles promotes vascular repair in acute respiratory distress syndrome.

PubMed

Shah, Trushil; Qin, Shanshan; Vashi, Mona; Predescu, Dan N; Jeganathan, Niranjan; Bardita, Cristina; Ganesh, Balaji; diBartolo, Salvatore; Fogg, Louis F; Balk, Robert A; Predescu, Sanda A

2018-06-22

Pulmonary endothelial cells' (ECs) injury and apoptotic death are necessary and sufficient for the pathogenesis of the acute respiratory distress syndrome (ARDS), regardless of epithelial damage. Interaction of dysfunctional ECs with circulatory extracellular vesicles (EVs) holds therapeutic promise in ARDS. However, the presence in the blood of long-term ARDS survivors of EVs with a distinct phenotype compared to the EVs of non-surviving patients is not reported. With a multidisciplinary translational approach, we studied EVs from the blood of 33 patients with moderate-to-severe ARDS. The EVs were isolated from the blood of ARDS and control subjects. Immunoblotting and magnetic beads immunoisolation complemented by standardized flow cytometry and nanoparticles tracking analyses identified in the ARDS patients a subset of EVs with mesenchymal stem cell (MSC) origin (CD73 + CD105 + Cd34 - CD45 - ). These EVs have 4.7-fold greater counts compared to controls and comprise the transforming growth factor-beta receptor I (TβRI)/Alk5 and the Runx1 transcription factor. Time course analyses showed that the expression pattern of two Runx1 isoforms is critical for ARDS outcome: the p52 isoform shows a continuous expression, while the p66 is short-lived. A high ratio Runx1p66/p52 provided a survival advantage, regardless of age, sex, disease severity or length of stay in the intensive care unit. Moreover, the Runx1p66 isoform is transiently expressed by cultured human bone marrow-derived MSCs, it is released in the EVs recoverable from the conditioned media and stimulates the proliferation of lipopolysaccharide (LPS)-treated ECs. The findings are consistent with a causal effect of Runx1p66 expression on EC proliferation. Furthermore, morphological and functional assays showed that the EVs bearing the Runx1p66 enhanced junctional integrity of LPS-injured ECs and decreased lung histological severity in the LPS-treated mice. The expression pattern of Runx1 isoforms might be a reliable circulatory biomarker of ARDS activity and a novel determinant of the molecular mechanism for lung vascular/tissue repair and recovery after severe injury.

Endothelial glucocorticoid receptor promoter methylation according to dexamethasone sensitivity

PubMed Central

Mata-Greenwood, Eugenia; Jackson, P Naomi; Pearce, William J; Zhang, Lubo

2016-01-01

We have previously shown that in vitro sensitivity to dexamethasone (DEX) stimulation in human endothelial cells is positively regulated by the glucocorticoid receptor (NR3C1, GR). The present study determined the role of differential GR transcriptional regulation in glucocorticoid sensitivity. We studied 25 human umbilical vein endothelial cells (HUVECs) that had been previously characterized as DEX-sensitive (n = 15), or resistant (n = 10). Real-time PCR analysis of GR 5′UTR mRNA isoforms showed that all HUVECs expressed isoforms 1B, 1C, 1D, 1F, and 1H, and isoforms 1B and 1C were predominantly expressed. DEX-resistant cells expressed higher basal levels of the 5′UTR mRNA isoforms 1C and 1D, but lower levels of the 5′UTR mRNA isoform 1F than DEX-sensitive cells. DEX treatment significantly decreased GRα and GR-1C mRNA isoform expression in DEX-resistant cells only. Reporter luciferase assays indicated that differential GR mRNA isoform expression was not due to differential promoter usage between DEX-sensitive and DEX-resistant cells. Analysis of promoter methylation, however, showed that DEX-sensitive cells have higher methylation levels of promoter 1D and lower methylation levels of promoter 1F than DEX-resistant cells. Treatment with 5-aza-2-deoxycytidine abolished the differential 5′UTR mRNA isoform expression between DEX-sensitive and DEX-resistant cells. Finally, both GRα overexpression and 5-aza-2-deoxycytidine treatment eliminated the differences between sensitivity groups to DEX-mediated downregulation of endothelial nitric oxide synthase (NOS3), and upregulation of plasminogen activator inhibitor 1 (SERPINE1). In sum, human endothelial GR 5′UTR mRNA expression is regulated by promoter methylation with DEX-sensitive and DEX-resistant cells having different GR promoter methylation patterns. PMID:26242202

Differential Binding of Human ApoE Isoforms to Insulin Receptor is Associated with Aberrant Insulin Signaling in AD Brain Samples.

PubMed

Chan, Elizabeth S; Chen, Christopher; Soong, Tuck Wah; Wong, Boon-Seng

2018-03-01

Apolipoprotein E4 (ApoE4) is the strongest genetic risk factor for sporadic Alzheimer's disease (AD), where inheritance of this isoform predisposes development of AD in a gene dose-dependent manner. Although the mode of action of ApoE4 on AD onset and progression remains unknown, we have previously shown that ApoE4, and not ApoE3 expression, resulted in insulin signaling deficits in the presence of amyloid beta (Aβ). However, these reports were not conducted with clinical samples that more accurately reflect human disease. In this study, we investigated the effect of ApoE genotype on the insulin signaling pathway in control and AD human brain samples. We found that targets of the insulin signaling pathway were attenuated in AD cases, regardless of ApoE isoform. We also found a decrease in GluR1 subunit expression, and an increase NR2B subunit expression in AD cases, regardless of ApoE isoform. Lastly, we observed that more insulin receptor (IR) was immunoprecipitated in control cases, and more Aβ was immunoprecipitated with AD cases. But, when comparing among AD cases, we found that more IR was immunoprecipitated with ApoE3 than ApoE4, and more Aβ was immunoprecipitated with ApoE4 than ApoE3. Our results suggest that the difference in IR binding and effect on protein expression downstream of the IR may affect onset and progression of AD.

In Search of a New, Linguistically and Culturally Sensitive Paradigm in Deaf Education

ERIC Educational Resources Information Center

Simms, Laurene; Thumann, Helen

2007-01-01

For more than a century, educators have recognized the low academic achievement of deaf children in America. Teacher training programs in deaf education historically have emphasized medical-pathological views of deaf people and deaf education rather than appropriate pedagogies that draw upon and build on deaf students' linguistic and cultural …

Googling "Deaf": Deafness in the World's English-Language Press

ERIC Educational Resources Information Center

Power, Des

2007-01-01

An Internet search tool, Google Alert, was used to survey the global English-language press July-December 2005 for references to deaf people. The survey found that such references focus on people who are deaf rather than the disability itself, thus demonstrating how well deaf people fit into the mainstream. Derogatory terminology such as "deaf and…

Deaf Autism: Common Instructional Practices Described by Deaf Educators

ERIC Educational Resources Information Center

Rutledge, Felicia

2017-01-01

The purpose of this research study was to identify common instructional practices described by teachers of the deaf with students who are deaf with autism that increase both student engagement and instructional outcomes. As the diversity of students increase within deaf/hard of hearing programs, research is emerging in the area of deaf autism.…

Examining a Sample of Black Deaf Individuals on the Deaf Acculturation Scale

ERIC Educational Resources Information Center

Nelson Schmitt, Shawn S.; Leigh, Irene W.

2015-01-01

The current study sought to identify and analyze how Black deaf and hard-of-hearing people conceptualize their deaf and hard-of-hearing identities. That is, what cultural and linguistic factors are involved and how do they interact? An existing measure of Deaf cultural identity, the Deaf Acculturation Scale (DAS), was used to evaluate these…

Creating the "History through Deaf Eyes" Documentary

ERIC Educational Resources Information Center

Hott, Lawrence

2007-01-01

In this article, the author outlines how a documentary film about the history of deafness in the United States, inspired by the exhibition "History through Deaf Eyes," is going to be created. "History through Deaf Eyes" will have a dual focus. Part of its subject is deafness from the inside: the personal experiences of deaf people (and hearing…

Production, purification and biochemical characterization of two laccase isoforms produced by Trametes versicolor grown on oak sawdust.

PubMed

Martínez-Morales, Fernando; Bertrand, Brandt; Pasión Nava, Angélica A; Tinoco, Raunel; Acosta-Urdapilleta, Lourdes; Trejo-Hernández, María R

2015-02-01

Two laccase isoforms (lcc1 and lcc2) produced by Trametes versicolor, grown on oak sawdust under solid-state fermentation conditions, were purified and characterized. The two isoforms showed significant biochemical differences. Lcc1 and lcc2 had MWs of 60 and 100 kDa, respectively. Both isoforms had maximal activity at pH 3 with ABTS and 2,6-dimethyloxyphenol (DMP). Lcc1 was the most attractive isoform due to its greater affinity towards all the laccase substrates used. Lcc1 had Km values of 12, 10, 15 and 17 mM towards ABTS, DMP, guaiacol and syringaldazine, respectively. Lcc2 had equivalent values of 45, 47, 15 and 39 mM. The biochemical properties of lcc1 substantiate the potential of this enzyme for application in the treatment of contaminated water with low pH values and high phenolic content.

Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss – A Common Hereditary Deafness

PubMed Central

Wingard, Jeffrey C.; Zhao, Hong-Bo

2015-01-01

Hearing loss due to mutations in the connexin gene family, which encodes gap junctional proteins, is a common form of hereditary deafness. In particular, connexin 26 (Cx26, GJB2) mutations are responsible for ~50% of non-syndromic hearing loss, which is the highest incidence of genetic disease. In the clinic, Cx26 mutations cause various auditory phenotypes ranging from profound congenital deafness at birth to mild, progressive hearing loss in late childhood. Recent experiments demonstrate that congenital deafness mainly results from cochlear developmental disorders rather than hair cell degeneration and endocochlear potential reduction, while late-onset hearing loss results from reduction of active cochlear amplification, even though cochlear hair cells have no connexin expression. However, there is no apparent, demonstrable relationship between specific changes in connexin (channel) functions and the phenotypes of mutation-induced hearing loss. Moreover, new experiments further demonstrate that the hypothesized K+-recycling disruption is not a principal deafness mechanism for connexin deficiency induced hearing loss. Cx30 (GJB6), Cx29 (GJC3), Cx31 (GJB3), and Cx43 (GJA1) mutations can also cause hearing loss with distinct pathological changes in the cochlea. These new studies provide invaluable information about deafness mechanisms underlying connexin mutation-induced hearing loss and also provide important information for developing new protective and therapeutic strategies for this common deafness. However, the detailed cellular mechanisms underlying these pathological changes remain unclear. Also, little is known about specific mutation-induced pathological changes in vivo and little information is available for humans. Such further studies are urgently required. PMID:26074771

The educational settings of profoundly deaf children with cochlear implants compared with age-matched peers with hearing aids: implications for management.

PubMed

Archbold, Sue M; Nikolopoulos, Thomas P; Lutman, Mark E; O'Donoghue, Gerard M

2002-04-01

The educational settings of 42 implanted profoundly deaf children 3 years after implantation were compared with the respective settings of 635 age-matched severely deaf and 511 profoundly deaf children with hearing aids. All implanted children received their implants before beginning school. The results revealed that 3 years after implantation. 38% (16 children) of the implanted profoundly deaf children attended mainstream schools, whereas 57% (24 children) were in a unit, or special class, in a mainstream school, and 5% (two children) were in schools for the deaf. With regard to the age-matched profoundly deaf children with hearing aids, 12% (63 children) attended mainstream schools, whereas 55% (281 children) were in a unit of a mainstream school, and 33% (167 children) were in schools for the deaf. In the group of age-matched severely deaf children, 38% (239 children) attended mainstream schools, whereas 51% (326 children) were in a unit of a mainstream school, and 11% (70 children) were in schools for the deaf. Statistical analysis revealed a highly significant difference between the educational placement of implanted children and hearing-aided profoundly deaf children (p<0.00001), whereas there was no statistically significant difference between implanted children and hearing-aided severely deaf children. In conclusion, implanted profoundly deaf children who have received their implants before beginning school have the same profile of educational placement as aided severely deaf children rather than aided profoundly deaf children of the same age in the UK. This is likely to have significant implications for the future management of profoundly deaf children and to influence future planning of educational support services.

The impact of visual communication on the intersubjective development of early parent-child interaction with 18- to 24-month-old deaf toddlers.

PubMed

Loots, Gerrit; Devisé, Isabel; Jacquet, Wolfgang

2005-01-01

This article presents a study that examined the impact of visual communication on the quality of the early interaction between deaf and hearing mothers and fathers and their deaf children aged between 18 and 24 months. Three communication mode groups of parent-deaf child dyads that differed by the use of signing and visual-tactile communication strategies were involved: (a) hearing parents communicating with their deaf child in an auditory/oral way, (b) hearing parents using total communication, and (c) deaf parents using sign language. Based on Loots and colleagues' intersubjective developmental theory, parent-deaf child interaction was analyzed according to the occurrence of intersubjectivity during free play with a standard set of toys. The data analyses indicated that the use of sign language in a sequential visual way of communication enabled the deaf parents to involve their 18- to 24-month-old deaf infants in symbolic intersubjectivity, whereas hearing parents who hold on to oral-only communication were excluded from involvement in symbolic intersubjectivity with their deaf infants. Hearing parents using total communication were more similar to deaf parents, but they still differed from deaf parents in exchanging and sharing symbolic and linguistic meaning with their deaf child.

Self-concept and ego development in deaf adolescents: a comparative study.

PubMed

van Gent, Tiejo; Goedhart, Arnold W; Knoors, Harry E T; Westenberg, P Michiel; Treffers, Philip D A

2012-01-01

Self-concept and ego development, two intertwined aspects of self-indicating well-being and social-cognitive maturation, respectively, were examined in a representative sample of deaf adolescents of normal intelligence (N = 68), using translated and adapted versions of Harter's (1988, Manual for the self-perception profile for adolescents. Denver, CO: University of Denver) multidimensional measure of self-concept and Loevinger's (1998, Technical foundations for measuring ego development. Mahwah, NJ: Lawrence Erlbaum) measure of ego development. Compared to hearing norm groups, deaf adolescents showed lower levels of self-perceived social acceptance, close friendships and ego development and higher physical appearance. Hierarchical multiple regression analyses controlling for sociodemographic variables showed positive associations of global self-worth with support for signing during childhood and quality of parent-child communication and of ego development with attending a regular school. Cluster analysis identified three social competence profiles: uniformly low competence, uniformly high competence, and low social acceptance with high physical appearance. Cluster membership was associated with school type, ego development, and (past) neurological disorder. The results are discussed in reference to interventions aimed at the well-being of deaf youth.

Is there room in the DSM for consideration of deaf people?

PubMed

Lala, F J

1998-10-01

Recent changes to the Diagnostic and Statistical Manual of Mental Disorders, or DSM (4th ed., American Psychiatric Association, 1994), show recognition that cultural factors are relevant to assessment; thus, including specific information relevant to Deaf culture should help DSM users understand their deaf clients. For the present article, literature was surveyed on the psychological needs of the Deaf, and specifically how the Deaf views those needs. The review focused on four articles (Carver, 1995, 1997; Chapman, 1994; Dolnick, 1993). These articles suggest consensus on the thesis that the Deaf, as a minority culture, should provide information on Deaf culture to members of the helping professions. In addition to enhancing care providers' understanding, this would help society do a better job of including the Deaf in planning relevant to their needs. In particular, culturally deaf people should urge inclusion of relevant information about the Deaf in the next DSM revision.

Deaf: A Concept Analysis From a Cultural Perspective Using the Wilson Method of Concept Analysis Development.

PubMed

Pendergrass, Kathy M; Newman, Susan D; Jones, Elaine; Jenkins, Carolyn H

2017-07-01

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. The concept of Deaf is analyzed using the Wilsonian method. Essential elements of the concept "Deaf" from a cultural perspective include a personal choice to communicate primarily in ASL and identify with the Deaf community. Resources for HCPs are needed to quickly identify Deaf signers and provide appropriate communication.

A compelling desire for deafness.

PubMed

Veale, David

2006-01-01

A case is described of a patient who has a compelling and persistent desire to become deaf. She often kept cotton wool moistened with oil in her ears and was learning sign language. Living without sound appeared to be a severe form of avoidance behavior from hyperacusis and misophonia. She had a borderline personality disorder that was associated with a poor sense of self. Her desire to be deaf may be one aspect of gaining an identity for herself and to compensate for feeling like an alien and gaining acceptance in the Deaf community. Will a compelling desire for deafness ever become a recognized mental disorder one day for which hearing patients may be offered elective deafness after a period of assessment and living like a deaf person? Those working in the field of deafness should be aware that individuals may occasionally be seeking elective deafness or self-inflicting deafness to obtain a hearing aid.

Differential Properties of Cytomegalovirus pUL97 Kinase Isoforms Affect Viral Replication and Maribavir Susceptibility

PubMed Central

Webel, Rike; Hakki, Morgan; Prichard, Mark N.; Rawlinson, William D.; Marschall, Manfred

2014-01-01

ABSTRACT The human cytomegalovirus (HCMV)-encoded kinase pUL97 is required for efficient viral replication. Previous studies described two isoforms of pUL97, the full-length isoform (M1) and a smaller isoform likely resulting from translation initiation at codon 74 (M74). Here, we report the detection of a third pUL97 isoform during viral infection resulting from translation initiation at codon 157 (isoform M157). The consistent expression of isoform M157 as a minor component of pUL97 during infection with clinical and laboratory-adapted HCMV strains was suppressed when codon 157 was mutagenized. Viral mutants expressing specific isoforms were generated to compare their growth and drug susceptibility phenotypes, as well as pUL97 intracellular localization patterns and kinase activities. The exclusive expression of isoform M157 resulted in substantially reduced viral growth and resistance to the pUL97 inhibitor maribavir while retaining susceptibility to ganciclovir. Confocal imaging demonstrated reduced nuclear import of amino-terminal deletion isoforms compared to isoform M1. Isoform M157 showed reduced efficiency of various substrate protein interactions and autophosphorylation, whereas Rb phosphorylation was preserved. These results reveal differential properties of pUL97 isoforms that affect viral replication, with implications for the antiviral efficacy of maribavir. IMPORTANCE The HCMV UL97 kinase performs important functions in viral replication that are targeted by the antiviral drug maribavir. Here, we describe a naturally occurring short isoform of the kinase that when expressed by itself in a recombinant virus results in altered intracellular localization, impaired growth, and high-level resistance to maribavir compared to those of the predominant full-length counterpart. This is another factor to consider in explaining why maribavir appears to have variable antiviral activity in cell culture and in vivo. PMID:24522923

14-3-3 eta isoform colocalizes TDP-43 on the coarse granules in the anterior horn cells of patients with sporadic amyotrophic lateral sclerosis.

PubMed

Umahara, Takahiko; Uchihara, Toshiki; Shibata, Noriyuki; Nakamura, Ayako; Hanyu, Haruo

2016-09-01

The immunolocalization of the 14-3-3 eta isoform in the anterior horn cells (AHCs) of patients with sporadic amyotrophic lateral sclerosis (ALS) and controls was examined. Compared with the immunolocalization of other 14-3-3 isoforms, the immunolocalization of the 14-3-3 eta isoform was either synaptic at the periphery of AHCs, spindle-shaped in neurites, or granular in the cytoplasm. By double labeling with phosphorylated (p-)TDP-43, the transactivation response DNA binding protein of 43kDa (TDP-43) demonstrated frequent colocalization of the 14-3-3 eta isoform in granular structures (90%) and spindle-shaped structures (85.4%), but not in p-TDP-43-positive round inclusions. It is speculated that the 14-3-3 eta isoform is associated with not only a synaptic pathology of ALS but also TDP-positive small lesions in the cytoplasm and neurites. The absence of eta-like immunoreactivity in p-TDP-43-positive large inclusions suggests the restricted relevance of the 14-3-3 eta isoform during ALS pathogenesis to some phases of the p-TDP pathology. Copyright © 2016 Elsevier B.V. All rights reserved.

Polyphenol oxidase and peroxidase expression in four pineapple varieties (Ananas comosus L.) after a chilling injury.

PubMed

Raimbault, Astrid-Kim; Marie-Alphonsine, Paul-Alex; Horry, Jean-Pierre; Francois-Haugrin, Madlyn; Romuald, Karell; Soler, Alain

2011-01-12

Pineapple internal browning (IB) is a chilling injury that produces enzymatic browning associated with flesh translucency. Pineapple biodiversity allowed the investigation of how polyphenol oxidase (PPO) and peroxidase (POD) activities with their different isoforms are involved in the IB mechanism. Fruits of four varieties that expressed IB symptoms differently, Smooth Cayenne (SCay) and the hybrids MD2, Flhoran 41 (Flh 41), and Flhoran 53 (Flh 53), were stressed by cold. The susceptible varieties showed classical brown spots but different patterns of IB, whereas MD2 and controls showed no IB. Enzymatic activities were measured on fruit protein extracts and PPO and POD isoforms separated on mini-gels (PhastSystem). Only PPO activity was significantly enhanced in the presence of IB. Up to six PPO isoforms were identified in the susceptible varieties. PPO was barely detectable in the nonsusceptible variety MD2 and in controls. The number of PPO isoforms and the total PPO activity after chilling are varietal characteristics.

Autogenous cross-regulation of Quaking mRNA processing and translation balances Quaking functions in splicing and translation

PubMed Central

Liu, Naiyou; Fair, Jeffrey Haskell; Shiue, Lily; Katzman, Sol; Donohue, John Paul

2017-01-01

Quaking protein isoforms arise from a single Quaking gene and bind the same RNA motif to regulate splicing, translation, decay, and localization of a large set of RNAs. However, the mechanisms by which Quaking expression is controlled to ensure that appropriate amounts of each isoform are available for such disparate gene expression processes are unknown. Here we explore how levels of two isoforms, nuclear Quaking-5 (Qk5) and cytoplasmic Qk6, are regulated in mouse myoblasts. We found that Qk5 and Qk6 proteins have distinct functions in splicing and translation, respectively, enforced through differential subcellular localization. We show that Qk5 and Qk6 regulate distinct target mRNAs in the cell and act in distinct ways on their own and each other's transcripts to create a network of autoregulatory and cross-regulatory feedback controls. Morpholino-mediated inhibition of Qk translation confirms that Qk5 controls Qk RNA levels by promoting accumulation and alternative splicing of Qk RNA, whereas Qk6 promotes its own translation while repressing Qk5. This Qk isoform cross-regulatory network responds to additional cell type and developmental controls to generate a spectrum of Qk5/Qk6 ratios, where they likely contribute to the wide range of functions of Quaking in development and cancer. PMID:29021242

Genome-wide identification and evolutionary analysis of algal LPAT genes involved in TAG biosynthesis using bioinformatic approaches.

PubMed

Misra, Namrata; Panda, Prasanna Kumar; Parida, Bikram Kumar

2014-12-01

Lysophosphatidyl acyltransferase (LPAT) is one of the major triacylglycerol synthesis enzymes, controlling the metabolic flow of lysophosphatidic acid to phosphatidic acid. Experimental studies in Arabidopsis have shown that LPAT activity is exhibited primarily by three distinct isoforms, namely the plastid-located LPAT1, the endoplasmic reticulum-located LPAT2, and the soluble isoform of LPAT (solLPAT). In this study, 24 putative genes representing all LPAT isoforms were identified from the analysis of 11 complete genomes including green algae, red algae, diatoms and higher plants. We observed LPAT1 and solLPAT genes to be ubiquitously present in nearly all genomes examined, whereas LPAT2 genes to have evolved more recently in the plant lineage. Phylogenetic analysis indicated that LPAT1, LPAT2 and solLPAT have convergently evolved through separate evolutionary paths and belong to three different gene families, which was further evidenced by their wide divergence at gene structure and sequence level. The genome distribution supports the hypothesis that each gene encoding a LPAT is not duplicated. Mapping of exon-intron structure of LPAT genes to the domain structure of proteins across different algal and plant species indicates that exon shuffling plays no role in the evolution of LPAT genes. Besides the previously defined motifs, several conserved consensus sequences were discovered which could be useful to distinguish different LPAT isoforms. Taken together, this study will enable the generation of experimental approximations to better understand the functional role of algal LPAT in lipid accumulation.

Deaf Adults' Reasons for Genetic Testing Depend on Cultural Affiliation: Results from a Prospective, Longitudinal Genetic Counseling and Testing Study

ERIC Educational Resources Information Center

Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.

2010-01-01

This article examines the relationship between cultural affiliation and deaf adults' motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf,…

More on the Effects of Early Manual Communication on the Cognitive Development of Deaf Children.

ERIC Educational Resources Information Center

Zwiebel, Abraham

1987-01-01

A study compared intelligence scores of three groups of Israeli deaf children--23 with deaf parents/deaf siblings and manual communication (DpDs), 76 with hearing parents/deaf siblings, and 144 with hearing parents and siblings. The DpDs children were superior to other deaf children and comparable to hearing children on most intelligence measures.…

Deaf English--An Investigation of the Written English Competence of Deaf Adolescents. Technical Report No. 236.

ERIC Educational Resources Information Center

Charrow, Veda R.

Presented is support for the existence of "Deaf English," a non-standard dialect common to the prelingually deaf; and reported is an investigation of the written English competence of deaf adolescents. In the first half of the document the author discusses the historical background of deaf education and the linguistic and cognitive abilities of…

Joining the Diaspora of Deaf Memoirists: A Personal Account of Writing Deafness

ERIC Educational Resources Information Center

McDonald, Donna

2014-01-01

In this essay, the author describes how, and why, she tackled a lifetime of questions about her deafness and experiences of being deaf by writing a memoir called The Art of Being Deaf. While researching her memoir, the author discovered that the questions about her deafness that she most needed to answer were her own. Having first read many…

34 CFR 396.31 - What additional selection criteria are used under this program?

Code of Federal Regulations, 2010 CFR

2010-07-01

... INTERPRETERS FOR INDIVIDUALS WHO ARE DEAF AND INDIVIDUALS WHO ARE DEAF-BLIND How Does the Secretary Make an... both individuals who are deaf and individuals who are deaf-blind and to the needs of public and private agencies that provide services to either individuals who are deaf or individuals who are deaf-blind in the...

[Identity of the deaf and interventions in health from the perspective of a community of sign language users].

PubMed

Nóbrega, Juliana Donato; Andrade, Andréa Batista de; Pontes, Ricardo José Soares; Bosi, Maria Lúcia Magalhães; Machado, Márcia Maria Tavares

2012-03-01

The biomedical view sees deafness as a physiological loss of audition and the deaf as individuals with an organic abnormality to be corrected; healthcare interventions support this perception. This study sought to understand deafness from the standpoint of the deaf, in order to identify elements for public policies addressed to them in the context of the ethical dimension of care. The research adopted the qualitative approach (focus groups) and 9 members of a deaf community in Fortaleza (Ceará-Brazil), all fluent in Brazilian Sign Language-LIBRAS, took part. The results show deafness is perceived as a way of being based on day-to-day experiences of visual interaction with nature and society, giving the deaf a different identity in terms of culture (being deaf) and linguistics (LIBRAS). Some public policies for oral training and technological interventions, like cochlear implants, are seen as a setback by the deaf, as it negates their status in the world and involves a loss of identity for the deaf. It is necessary to consider the deaf from a socio-historic, symbolic and cultural standpoint where different discourses co-exist, over and above the physiological dimension.