Association of SNPs in LCP1 and CTIF with hearing in 11 year old children:findings from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort and the G-EAR consortium

BACKGROUND: The genetic basis of hearing loss in humans is relatively poorly understood. In recent years, experimental approaches including laboratory studies of early onset hearing loss in inbred mouse strains, or proteomic analyses of hair cells or hair bundles, have suggested new candidate molecules involved in hearing function. However, the relevance of these genes/gene products to hearing function in humans remains unknown. We investigated whether single nucleotide polymorphisms (SNPs) in the human orthologues of genes of interest arising from the above-mentioned studies correlate with hearing function in children. METHODS: 577 SNPs from 13 genes were each analysed by linear regression against averaged high (3, 4 and 8 kHz) or low frequency (0.5, 1 and 2 kHz) audiometry data from 4970 children in the Avon Longitudinal Study of Parents and Children (ALSPAC) birth-cohort at age eleven years. Genes found to contain SNPs with low p-values were then investigated in 3417 adults in the G-EAR study of hearing. RESULTS: Genotypic data were available in ALSPAC for a total of 577 SNPs from 13 genes of interest. Two SNPs approached sample-wide significance (pre-specified at p = 0.00014): rs12959910 in CBP80/20-dependent translation initiation factor (CTIF) for averaged high frequency hearing (p = 0.00079, β = 0.61 dB per minor allele); and rs10492452 in L-plastin (LCP1) for averaged low frequency hearing (p = 0.00056, β = 0.45 dB). For low frequencies, rs9567638 in LCP1 also enhanced hearing in females (p = 0.0011, β = -1.76 dB; males p = 0.23, β = 0.61 dB, likelihood-ratio test p = 0.006). SNPs in LCP1 and CTIF were then examined against low and high frequency hearing data for adults in G-EAR. Although the ALSPAC results were not replicated, a SNP in LCP1, rs17601960, is in strong LD with rs9967638, and was associated with enhanced low frequency hearing in adult females in G-EAR (p = 0.00084). CONCLUSIONS: There was evidence to suggest that multiple SNPs in CTIF may contribute a small detrimental effect to hearing, and that a sex-specific locus in LCP1 is protective of hearing. No individual SNPs reached sample-wide significance in both ALSPAC and G-EAR. This is the first report of a possible association between LCP1 and hearing function.

An automatic classifier of emotions built from entropy of noise

The electrocardiogram (ECG) signal has been widely used to study the physiological substrates of emotion. However, searching for better filtering techniques in order to obtain a signal with better quality and with the maximum relevant information remains an important issue for researchers in this field. Signal processing is largely performed for ECG analysis and interpretation, but this process can be susceptible to error in the delineation phase. In addition, it can lead to the loss of important information that is usually considered as noise and, consequently, discarded from the analysis. The goal of this study was to evaluate if the ECG noise allows for the classification of emotions, while using its entropy as an input in a decision tree classifier. We collected the ECG signal from 25 healthy participants while they were presented with videos eliciting negative (fear and disgust) and neutral emotions. The results indicated that the neutral condition showed a perfect identification (100%), whereas the classification of negative emotions indicated good identification performances (60% of sensitivity and 80% of specificity). These results suggest that the entropy of noise contains relevant information that can be useful to improve the analysis of the physiological correlates of emotion.

Cognitive and Visual Speech Contributions to Speech Perception in Challenging Listening Conditions

Speech perception routinely takes place in noisy or degraded listening environments, leading to ambiguity in the identity of the speech token. Here, I present one review paper and two experimental papers that highlight cognitive and visual speech contributions to the listening process, particularly in challenging listening environments. First, I survey the literature linking audiometric age-related hearing loss and cognitive decline and review the four proposed causal mechanisms underlying this link. I argue that future research in this area requires greater consideration of the functional overlap between hearing and cognition. I also present an alternative framework for understanding causal relationships between age-related declines in hearing and cognition, with emphasis on the interconnected nature of hearing and cognition and likely contributions from multiple causal mechanisms. I also provide a number of testable hypotheses to examine how impairments in one domain may affect the other. In my first experimental study, I examine the direct contribution of working memory (through a cognitive training manipulation) on speech in noise comprehension in older adults. My results challenge the efficacy of cognitive training more generally, and also provide support for the contribution of sentence context in reducing working memory load. My findings also challenge the ubiquitous use of the Reading Span test as a pure test of working memory. In a second experimental (fMRI) study, I examine the role of attention in audiovisual speech integration, particularly when the acoustic signal is degraded. I demonstrate that attentional processes support audiovisual speech integration in the middle and superior temporal gyri, as well as the fusiform gyrus. My results also suggest that the superior temporal sulcus is sensitive to intelligibility enhancement, regardless of how this benefit is obtained (i.e., whether it is obtained through visual speech information or speech clarity). In addition, I also demonstrate that both the cingulo-opercular network and motor speech areas are recruited in difficult listening conditions. Taken together, these findings augment our understanding of cognitive contributions to the listening process and demonstrate that memory, working memory, and executive control networks may flexibly be recruited in order to meet listening demands in challenging environments.

[principles Of Universality, Comprehensiveness And Equity In A Hearing Health Care Service].

This article analyzed whether the practices of hearing health care were consistent with the principles of universality, comprehensiveness and equity from the standpoint of professionals. It involved qualitative research conducted at a Medium Complexity Hearing Health Care Center. A social worker, three speech therapists, a physician and a psychologist constituted the study subjects. Interviews were conducted as well as observation registered in a field diary. The thematic analysis technique was used in the analysis of the material. The analysis of interviews resulted in the construction of the following themes: Universality and access to hearing health, Comprehensive Hearing Health Care and Hearing Health and Equity. The study identified issues that interfere with the quality of service and run counter to the principles of Brazilian Unified Health System. The conclusion reached was that a relatively simple investment in training and professional qualification can bring about significant changes in order to promote a more universal, comprehensive and equitable health service.

Chronic Telogen Effluvium And Female Pattern Hair Loss Are Separate And Distinct Forms Of Alopecia: A Histomorphometric And Immunohistochemical Analysis.

Chronic telogen effluvium (CTE), a poorly understood condition, can be confused with or may be a prodrome to female pattern hair loss (FPHL). The pathogenesis of both is related to follicle cycle shortening and possibly to blood supply changes. To analyze a number of histomorphometric and immunohistochemical findings through vascular endothelial growth factor (VEGF), Ki-67, and CD31 immunostaining in scalp biopsies of 20 patients with CTE, 17 patients with mild FPHL and 9 controls. Ki-67 index and VEGF optical density were analyzed at the follicular outer sheath using ImageJ software. CD31 microvessel density was assessed by a Chalkley grid. Significant follicle miniaturization and higher density of nonanagen follicles were found in FPHL, compared with patients with CTE and controls. Ki-67+ index correlated positively with FPHL histological features. The FPHL group showed the highest VEGF optical density, followed by the CTE and control groups. No differences were found in CD31 microvessel density between the three groups. Histomorphometric results establish CTE as a distinct disorder, separate from FPHL from its outset. Its pathogenic mechanisms are also distinct. These findings support the proposed mechanism of 'immediate telogen release' for CTE, leading to cycle synchronization. For FPHL, accelerated anagen follicular mitotic rates and, thus, higher Ki-67 and VEGF values, would leave less time for differentiation, resulting in hair miniaturization.

Central Auditory Processing Outcome After Stroke In Children.

To investigate central auditory processing in children with unilateral stroke and to verify whether the hemisphere affected by the lesion influenced auditory competence. 23 children (13 male) between 7 and 16 years old were evaluated through speech-in-noise tests (auditory closure); dichotic digit test and staggered spondaic word test (selective attention); pitch pattern and duration pattern sequence tests (temporal processing) and their results were compared with control children. Auditory competence was established according to the performance in auditory analysis ability. Was verified similar performance between groups in auditory closure ability and pronounced deficits in selective attention and temporal processing abilities. Most children with stroke showed an impaired auditory ability in a moderate degree. Children with stroke showed deficits in auditory processing and the degree of impairment was not related to the hemisphere affected by the lesion.

Predictors For Weight Loss Failure Following Roux-en-y Gastric Bypass.

Weight loss failure is a widely recognized occurrence following Roux-en-Y gastric bypass. This study aims to identify predictors associated with weight loss failure. It is a retrospective cohort which enrolled 187 subjects who underwent RYGB. Comparisons were made between patients' features at baseline and 24 months after surgery. A weight loss failure rate of 11.2% was found. Advanced age and diabetes were statistically associated with failure. The results found were close to previous reports. As weight loss failure represents an important concern, there is the possibility to perform revisional surgeries, which may emphasize the restrictive or malabsorptive characteristics of RYGB, leading to varied results. It is reinforced that weight loss cannot be used as the unique outcome to evaluate the success of surgery.

Caracterização do jogo simbólico em deficientes auditivos: estudo de casos e controles

TEMA: crianças deficientes auditivas não adquirem linguagem no mesmo período e velocidade de uma criança normo-ouvinte, pois o aprendizado da linguagem oral é um evento essencialmente auditivo. O desenvolvimento da criança consiste na aquisição progressiva de habilidades motoras e psicocognitivas, e a entrada no mundo simbólico é fator preponderante para que a criança possa atingir os níveis de maior complexidade no domínio da linguagem. OBJETIVO: relacionar o jogo simbólico e aspectos do desenvolvimento infantil em crianças deficientes auditivas com seus pares ouvintes. MÉTODO: 32 crianças, de ambos os sexos, de 2 a 6 anos de idade, pareadas por idade, foram submetidas à Avaliação da Maturidade Simbólica e ao Teste de Triagem do Desenvolvimento de Denver II, sendo 16 deficientes auditivas neurossensorial de grau moderado a profundo (grupo pesquisa - GP) e 16 normo-ouvintes (grupo controle - GC). RESULTADOS: observou-se simbolismo na brincadeira de 81,25% do GP, enquanto que no GC isto ocorreu em 87,5%. No Teste de Denver II 100% do GP foi classificado como risco, e o GC apresentou 94% de crianças normais e 6% de risco (p < 0,001). CONCLUSÃO: observou-se desempenho semelhante nos dois grupos quanto ao jogo simbólico. Entretanto, numa análise qualitativa, o GP apresentou brincadeiras menos complexas que o GC. Observou-se que o GP apresentou desempenho no jogo simbólico compatível ao seu desempenho nos aspectos pessoal-social, motor fino-adaptativo e motor grosseiro do Teste de Denver II.

Mass loss of four commercially available heat-polymerized acrylic resins after toothbrushing with three different dentifrices

The association between a toothbrush and a dentifrice is the most used denture cleaning method. The purpose of this study was to evaluate the abrasiveness of specific and non-specific denture cleaning dentifrices on different heat-polymerized acrylic resins. Sixteen specimens (90x30x3mm) of each acrylic resin (QC-20, Lucitone 550, Clássico, Vipi-Cril) were prepared and randomly assigned to 4 groups: 1: control (distilled water), 2: Colgate, 3: Bonyplus and 4: Dentu-Creme. The specimens were subjected to simulated toothbrushing in an automatic brushing machine using 35,600 brush strokes for each specimen. Brushing abrasion run at a 200-g load with the specimens immersed in 2:1 dentifrice/water slurry. Specimens were reconditioned to constant mass and the mass loss (mg) was evaluated. Data were analyzed by 2-way ANOVA and Tukey's test (a=0.05). Analysis of dentifrices' abrasive particles was made by scanning electron microscopy. Colgate produced the greatest mass reduction (42.44 mg, p<0.05), followed by Dentu-Creme (33.60 mg). Bonyplus was the less abrasive (19.91 mg), similar to the control group (19.69 mg) (p>0.05). The mass loss values indicated that QC-20 (33.13 mg) and Lucitone 550 (33.05 mg) resins were less (p<0.05) resistant to abrasion than Clássico (26.04 mg) and Vipi-Cril (23.43 mg). In conclusion, Colgate produced the greatest abrasion. Specific dentifrices for dentures tend to cause less damage to acrylic resins.

Relation between implant/abutment vertical misfit and torque loss of abutment screws

This study investigated whether there is a direct correlation between the level of vertical misfit at the abutment/implant interface and torque losses (detorque) in abutment screws. A work model was obtained from a metal matrix with five 3.75 x 9 mm external hex implants with standard platform (4.1 mm). Four frameworks were waxed using UCLA type abutments and one-piece cast in commercially pure titanium. The misfit was analyzed with a comparator microscope after 20 Ncm torque. The highest value of misfit observed per abutment was used. The torque required to loose the screw was evaluated using a digital torque meter. The torque loss values, measured by the torque meter, were assumed as percentage of initial torque (100%) given to abutment screws. Pearson's correlation (α=0.05) between the misfit values (29.08 ± 8.78 µm) and the percentage of detorque (50.71 ± 11.37%) showed no statistically significant correlation (p=0.295). Within the limitations of this study, it may be concluded that great vertical misfits dot not necessarily implies in higher detorque values.

Evaluation of the dental structure loss produced during maintenance and replacement of occlusal amalgam restorations

The aim of this in vitro study was to evaluate four different approaches to the decision of changing or not defective amalgam restorations in first primary molar teeth concerning the loss of dental structure. Ditched amalgam restorations (n = 11) were submitted to four different treatments, as follows: Control group - polishing and finishing of the restorations were carried out; Amalgam group - the ditched amalgam restorations were replaced by new amalgam restorations; Composite resin group - the initial amalgam restorations were replaced by composite resin restorations; Flowable resin group - the ditching around the amalgam restorations was filled with flowable resin. Images of the sectioned teeth were made and the area of the cavities before and after the procedures was determined by image analysis software to assess structural loss. The data were submitted to ANOVA complemented by the Student Newman Keuls test (p < 0.05). The cavities in all the groups presented significantly greater areas after the procedures. However, the amalgam group showed more substantial dental loss. The other three groups presented no statistically significant difference in dental structure loss after the re-treatments. Thus, replacing ditched amalgam restorations by other similar restorations resulted in a significant dental structure loss while maintaining them or replacing them by resin restorations did not result in significant loss.

O brincar e as habilidades sociais na interação da criança com deficiência auditiva e mãe ouvinte

Este artigo é resultado de um estudo que analisou a interação e o brincar entre 20 mães e seus filhos com deficiência auditiva, de graus severo e/ou profundo, com idades entre três e seis anos, em rotina de atendimento no Centro de Distúrbio da Audição, Linguagem e Visão do Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo. As mães foram entrevistadas e as respostas, analisadas quantitativa e qualitativamente. Os resultados mostraram que a interação com a mãe durante o brincar favorece o desenvolvimento de habilidades sociais para a adequação da criança ao seu meio social, e que as mães carecem de orientações, a fim de que esse espaço seja utilizado mais eficientemente para o aprendizado.

Avaliação audiológica pré-cirurgia otológica de indivíduos com fissura labiopalatina operada

OBJETIVO: descrever as características audiológicas de indivíduos com fissura labiopalatina operada (FLP) e indicação de cirurgia otológica, comparando os grupos quanto ao tipo e grau da perda auditiva, bem como a curva timpanométrica. MÉTODOS: análise de 150 prontuários, ambos os gêneros, idade igual ou superior a 4 anos, FLP e indicação de cirurgia otológica, divididos em 3 grupos: I - Tubo de ventilação (TV), II - Timpanoplastia e III - Timpanomastoidectomia, analisando aspectos quanto a entrevista audiológica, audiometria tonal limiar e imitanciometria. RESULTADOS: o grupo I apresentou porcentagem maior de cirurgia bilateral (86%), o que não ocorreu nos demais grupos. Na entrevista audiológica, 83% apresentou algum tipo de queixa auditiva, sendo a mais frequente a perda auditiva (64%) com p<0,05 entre os grupos I e II; I e III. O tipo de perda auditiva de maior ocorrência foi condutivo bilateral (56%) seguido de unilateral (35%), com p<0,05 entre os grupos I e II; I e III. A perda de grau leve unilateral foi a de maior ocorrência (41%), seguida de grau leve a moderada bilateral (20%), com p<0,05 entre os três grupos. A curva timpanométrica mais frequente foi a do tipo B bilateral (39%) com p<0,05 entre os três grupos. CONCLUSÃO: a maioria dos indivíduos apresentou algum tipo de queixa na entrevista audiológica e alterações na audiometria tonal limiar e imitanciometria. A maioria dessas alterações foi compatível com problemas de orelha média, com perda auditiva do tipo condutiva, de grau leve e bilateral, independentemente da indicação cirúrgica.

Mechanisms of pigmentation loss in subterranean fishes

Troglobitic (exclusively subterranean) organisms usually present, among their apomorphies related to the subterranean life (troglomorphisms), the regression of eyes and melanic pigmentation. The degree of regression varies among species, from a slight reduction to the complete loss of eyes and dark pigmentation, without a taxonomic correlation. While mechanisms of eye reduction have been intensively investigated in some troglobites such as the Mexican blind tetra characins, genus Astyanax, and the European salamander, Proteus anguinus, few studies have focused on pigmentation. The Brazilian subterranean ichthyofauna distinguishes not only by the species richness (23 troglobitic fishes so far known) but also by the variation in the degree of reduction of eyes and pigmentation. This study focused on Brazilian fishes completely devoid of melanic pigmentation: the characiform Stygichthys typhlops (Characidae) and the siluriforms Ancistrus formoso (Loricariidae), Rhamdiopsis sp.1 (Heptapteridae; from caves in the Chapada Diamantina, Bahia) and Rhamdiopsis sp. 2 (cave in Campo Formoso, Bahia). In order to investigate if such depigmentation is the result of blockage in some step in the melanogenesis, in vitro tests of administration of L-DOPA were done, using caudal-fin fragments extracted from living fish. Except for Rhamdiopsis sp. 2, all the studied species were DOPA(+), i.e., melanin was synthesized after L-DOPA administration. This indicates these fish do have melanophores but they are unable to convert L-tyrosine to L-DOPA. On the other hand, Rhamdiopsis sp. 2, like the albino specimens of Trichomycterus itacarambiensis previously studied (which correspond to one third of the population), are DOPA(-), either because the block of melanin synthesis occurs downstream in melanogenesis, which is probably the case with T. itacarambiensis (monogenic system in view of the phenotypic discontinuity), or because the so-called albinos do no possess melanophores. The physiological loss in the ability to synthesize melanin, apparently caused by different genetic processes in DOPA(+) and in DOPA(-) fishes, may co-exist in subterranean populations with a decrease in the density of melanophores, as observed in the pigmented two thirds of T. itacarambiensis population, a morphological reduction apparently controlled by polygenic systems producing a continuous phenotypic variation.

Estudo de família brasileira portadora de deficiência auditiva sensorioneural não-sindrômica com herança mitocondrial

O presente estudo teve como objetivo descrever os achados audiológicos e genéticos de nove membros de uma família brasileira que apresenta a mutação no DNA mitocondrial. Todos os nove membros realizaram estudo genético, avaliação foniátrica e audiológica (audiometria tonal e logoaudiometria). O estudo genético revelou a presença de mutação mitocondrial A1555G no gene 12S rRNA (MT-RNR-1) do DNA mitocondrial em todos os sujeitos. Oito sujeitos apresentaram deficiência auditiva e somente um apresentou limiares auditivos normais até o término da realização do estudo. Os resultados audiológicos apontaram para perdas auditivas bilaterais, com prevalência das simétricas, de configurações e graus variados (de moderado a profundo) e pós-linguais. Progressão da perda auditiva foi observada em dois irmãos afetados. Não foi possível afirmar a época do início da perda auditiva por falta de informação dos sujeitos, no entanto, observou-se manifestação da perda em crianças e adultos. As mutações no DNA mitocondrial representam uma causa importante de perda auditiva, sendo imprescindível a realização do diagnóstico etiopatológico, a fim de retardar o início ou evitar a progressão da surdez.