966 resultados para 730111 Hearing, vision, speech and their disorders


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We present the clinical and ophthalmological findings in two infants with neonatal Marfan syndrome (nMFS) and primary trabeculodysgenesis (PT). Fibrillin 1 (FBN1) mutations were confirmed in both cases. Numerous eye anomalies have been recognized in infants with nMFS, but PT has not been reported previously. Our report expands the phenotype of nMFS, and highlights the importance of early and careful ophthalmological assessment of these infants. (C) 2004 Wiley-Liss, Inc.

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Background: The 'ease of use' andaccuracy in measurement of the vertical optic cup/discratio (VCDR) was compared between the conventional direct ophthalmoscope(CO) and Panoptic direct ophthalmoscope (PO) in a group of 'naive' firstyear medical students to determine which would be more suitablefor non-ophthalmologists. Methods: In this quasi-randomized method comparison study,eight students received an introductory session on ophthalmoscopythen examined 18 eyes (9 left, 9 right) with each ophthalmoscopein a private practice. The subjects were the eight students themselvesplus two other subjects. Each subject (n = 10)had one eye dilated. Students determined a VCDR and a subjectivescore of 'ease of use' on a scale of 1 (difficult)to 10 (easy). A consultant ophthalmologist (GAG) determined thebenchmark VCDR for each eye with each ophthalmoscope. Results: Of 288 eye examinations, there were 111 measure-ments of VCDR using the CO (47 undilated, 64dilated), and 140 measurements using the PO (75 undilated, 65 dilated).Differences in the students' estimated VCDR and the benchmarkwere similar for the CO and PO (P = 0.67). 'Easeof use' was scored in 288 eyes and the median score washigher in the PO overall (CO: median 8, IQR 6-9; PO median9, IQR 8-10; P < 0.0001), andwithin each session (P < 0.0001 foreach session). Conclusions: Medical students found the PO mucheasier to use, with accuracy of rating the VCDR similar to the CO. Thiscomparison would support the wider use of the PO amongst medicalstudents, general practitioners and other primary care providers.

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Group-size effects, as changes in the adult language when speaking to individual or multiple children in two- and three-year-olds' Australian childcare centre classrooms were investigated. The language addressed to children by 21 staff members was coded for social (e.g., non-verbal, inferential and pragmatic), and linguistic (e.g., morphological, lexical, syntactic and referential) features. In the two-year-olds' classrooms, minimal differences were found between the language used in dyads (addressed to a single child) and polyads (addressed to more than one child). More extensive group-size effects, particularly in syntactic complexity, were found in the three-year-olds' classrooms. Explanations for the constancy of the adult language input in the younger classrooms, and the changes noted in the older rooms will be discussed in terms of plurality (i.e., more than one listener), methodology, and group-size effects that may be specific to the early childhood educational setting.

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Elevated extracellular concentrations of the neurotransmitter glutamate are neurotoxic and directly contribute to CNS damage as a result of ischemic pathologies. However, the main contributors to this uncontrolled rise in glutamate are still unconfirmed. It has been reported that the reversal of high-affinity glutamate transporters is a significant contributing factor. Conversely, it has also Peen observed that these transporters continue to take up glutamate, albeit at a reduced saturation concentration, under ischemic conditions. We sought to determine whether glutamate transporters continue to remove glutamate from the extracellular space under ischemic conditions by pharmacologically modulating the activity of high-affinity retinal glutamate transporters during simulated ischemia in vitro. Retinal glutamate transporter activity was significantly reduced under these ischemic conditions. The suppression of retinal glutamate transporter activity, with the protein kinase C inhibitor chelerythrine, significantly reduced ischemic glutamate uptake and enhanced retinal neurodegeneration. These findings imply a limited but protective role for retinal glutamate transporters under certain ischemic conditions, suggesting that pharmacological enhancement of high-affinity glutamate transporter activity may reduce tissue damage and loss of function resulting from toxic extracellular glutamate concentrations. (C) 2004 Wiley-Liss, Inc.

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The hallucinogenic serotonin(IA&2A) agonist psilocybin is known for its ability to induce illusions of motion in otherwise stationary objects or textured surfaces. This study investigated the effect of psilocybin on local and global motion processing in nine human volunteers. Using a forced choice direction of motion discrimination task we show that psilocybin selectively impairs coherence sensitivity for random dot patterns, likely mediated by high-level global motion detectors, but not contrast sensitivity for drifting gratings, believed to be mediated by low-level detectors. These results are in line with those observed within schizophrenic populations and are discussed in respect to the proposition that psilocybin may provide a model to investigate clinical psychosis and the pharmacological underpinnings of visual perception in normal populations.

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Much of the hearing loss that occurs in old age is likely to be due to the long-term deterioration of the mitochondria in the different structures of the cochlea. The current review surveys some of the basic information on mitochondria and mitochondrial DNA, as a background to their possible involvement in presbyacusis. It is likely that oxygen radicals damage mitochondrial DNA and other components of the mitochondria, such as their proteins and lipids. This further compromises both oxidative phosphorylation and the repair processes in mitochondria, setting up a vicious cycle of degradation. Evidence is presented from inherited point mutations on the possibly most critical sites for mutations in mitochondrial DNA associated with hearing loss. It is suggested that random sorting and clonal expansion of mutations both maintain the integrity of the pool of mitochondrial DNA molecules and give rise to the apoptosis that leads to loss of vulnerable cells, and hence to deafness. It is moreover suggested that apoptosis of the vulnerable cells of the inner ear may to some extent be preventable, or at least delayed. Copyright (C) 2004 S. Karger AG, Basel.

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NADPH diaphorase (NADPHd) histochemistry labels two types of nitrergic amacrine cells in the rabbit retina. Both the large ND1 cells and the small ND2 cells stratify in the middle of the inner plexiform layer, and their overlapping processes produce a dense plexus, which makes it difficult to trace the morphology of single cells. The complete morphology of the ND1 amacrine cells has been revealed by injecting Neurobiotin into large round somata in the inner nuclear layer, which resulted in the labelling of amacrine cells whose proximal morphology and stratification matched those of the ND1 cells stained by NADPHd histochemistry. The Neurobiotin-injected ND1 cells showed strong homologous tracer coupling to surrounding ND1 cells, and double-labelling experiments confirmed that these coupled cells showed NADPHd reactivity. The ND1 amacrine cells branch in stratum 3 of the inner plexiform layer, where they produce a sparsely branched dendritic tree of 400-600 mum diameter in ventral peripheral retina. In addition, each cell gives rise to several fine beaded processes, which arise either from a side branch of the dendritic tree or from the tapering of a distal dendrite. These axon-like processes branch successively within the vicinity of the dendritic field before extending, with little or no further branching, for 3-5 mm from the soma in ventral peripheral retina. Consequently, these cells may span one-third of the visual field of each eye, and their spatial extent appears to be greater than that of most other types of axon-bearing amacrine cells injected with Neurobiotin in this study. The morphology and tracer-coupling pattern of the ND1 cells are compared with those of confirmed type 1 catecholaminergic cells, a presumptive type 2 catecholaminergic cell, the type 1 polyaxonal. cells, the long-range amacrine cells, a novel type of axon-bearing cell that also branches in stratum 3, and a type of displaced amacrine cell that may correspond to the type 2 polyaxonal cell. (C) 2004 Wiley-Liss, Inc.

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The type 1 polyaxonal (PA1) cell is a distinct type of axon-bearing amacrine cell whose soma commonly occupies an interstitial position in the inner plexiform layer; the proximal branches of the sparse dendritic tree produce 1-4 axon-like processes, which form an extensive axonal arbor that is concentric with the smaller dendritic tree (Dacey, 1989; Famiglietti, 1992a,b). In this study, intracellular injections of Neurobiotin have revealed the complete dendritic and axonal morphology of the PA1 cells in the rabbit retina, as well as labeling the local array of PA1 cells through homologous tracer coupling. The dendritic-field area of the PA1 cells increased from a minimum of 0.15 mm(2) (0.44-mm equivalent diameter) on the visual streak to a maximum of 0.67 mm(2) (0.92-mm diameter) in the far periphery; the axonal-field area also showed a 3-fold variation across the retina, ranging from 3.1 mm(2) (2.0-mm diameter) to 10.2 mm(2) (3.6-mm diameter). The increase in dendritic- and axonal-field size was accompanied by a reduction in cell density, from 60 cells/mm(2) in the visual streak to 20 cells/mm(2) in the far periphery, so that the PA1 cells showed a 12 times overlap of their dendritic fields across the retina and a 200-300 times overlap of their axonal fields. Consequently, the axonal plexus was much denser than the dendritic plexus, with each square millimeter of retina containing similar to100 mm of dendrites and similar to1000 mm of axonal processes. The strong homologous tracer coupling revealed that similar to45% of the PA1 somata were located in the inner nuclear layer, similar to50% in the inner plexiform layer, and similar to5% in the ganglion cell layer. In addition, the Neurobiotin-injected PA1 cells sometimes showed clear heterologous tracer coupling to a regular array of small ganglion cells, which were present at half the density of the PA1 cells. The PA1 cells were also shown to contain elevated levels of gamma-aminobutyric acid (GABA), like other axon-bearing amacrine cells.

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The lack of standardized tests of central auditory processing disorder (CAPD) in South Africa (SA) led to the formation of a SA CAPD Taskforce, and the interim development of a "low linguistically loaded" CAPD test protocol using test recordings from the 'Tonal and Speech Materials for Auditory Perceptual Assessment Disc 2.0'. This study inferentially compared the performance of 16 SA English first, and 16 SA English second, language adult speakers on this test protocol, and descriptively compared their performances to previously published American normative data. Comparisons between the SA English first and second language speakers showed a poorer right ear performance (p < .05) by the second language speakers on the two-pair dichotic digits test only. Equivalent performances (p < .05) were observed on the left ear performance on the two pair dichotic digits test, and the frequency patterns test, the duration patterns test, the low-pass filtered speech test, the 45% time compressed speech test, the speech masking level difference test, and the consonant vowel consonant (CVC) binaural fusion test. Comparisons between the SA English and the American normative data showed many large differences (up to 37.1% with respect to predicted pass criteria as calculated by mean-2SD cutoffs), with the SA English speakers performing both better and worse depending on the test involved. As a result, the American normative data was not considered appropriate for immediate use as normative data in SA. Instead, the preliminary data provided in this study was recommended as interim normative data for both SA English first and second language adult speakers, until larger scale SA normative data can be obtained.