Potencial evocado auditivo de tronco encefálico em equinos

Pós-graduação em Medicina Veterinária - FMVZ

O papel do intérprete de libras no ensino fundamental

The Brazilian sign language is a visual-spatial language, manifested through the hands, facial expressions and body, being considered a natural language used by the deaf community in Brazil. Thus, in a school context the knowledge of LIBRAS is fundamental to the interpreter and the deaf student, so, the role of the interpreter in the classroom is to mediate the relationship between teachers and students. The objective of this study is to investigate the importance of the interpreter in the educational process of the deaf child and try to map the possible difficulties found by him in his workspace, under his perspective in the classroom. This is a qualitative study, which had the data collection instrument as an open interview with questionnaire, dealing on issues concerning to the role and practice of the interpreter of Libras in the classroom to support the deaf student in school age. Therefore, participated in the study two interpreters of Libras who works in elementary school classrooms in the city of Jaú. The results shown that the interpreter's role is extremely important for the education of children with hearing impairment, but it's not recognized and many times not accepted by teachers and educational institutions, when its real function is respected

Deficiência auditiva: estudos clínicos sobre o narcisismo materno

The diagnosis of hearing loss (HL) in a child constitutes a crisis, includinga possible crash in parental narcissism, requiring an individual, matrimonial andfamiliar reorganization process. The mother is the main figure to devote herselfattending the baby and generally takes the most responsibilities in the processof habilitation or rehabilitation of the child, while still having to deal with her frustratedexpectations and narcissism. This study aims to investigate the effects of a deaf child’s birth on the mother’s narcissism. Here understood as a normal stage of psychosexual development of the human being, needed for life preservation, nota pathology. Five different clinical pratical studies were developed with mothers of deaf children that were diagnosed less than one year ago. The data were collected using individual semi-structured interviews and Thematic Apperception Test (TAT). Based on these studies it was found that the birth of a deaf child makes it difficult to obtain the expected narcissist satisfaction. The mother, investing all her affection and longing almost only on her child, hopes to rebuild her dream obtaining the "cure" and "normality" of her baby by submitting him/her to a cochlear implant.

Práticas educativas parentais: a deficiência auditiva pode fazer a diferença?

This study analyzed the influence of the hearing impairment (HI) of children in the way their mothers treat them (between 5 and 12 years old). Two studies were carried out to investigate the social - educational parental practices (SEPP) and parental styles. The first study observed the parental educational practices of mothers dealing with children with and without HI, and the second study tried to verify whether mothers acted different in these same practices when considering either children with HI or children without HI. The results have shown that HI seems to modify SEPP concerning expressing opinions, asking questions, (Study 1) and setting limits (Studies 1 and 2), as well as practices of negative monitoring (Study 1), moral behavior, inconsistent punishment, discipline absence, physical abuse and, also, Parental Styles (Study 2).

Aprendizagem após via exclusão e formação de classes de equivalência em crianças com deficiência auditiva e implante coclear (aceito condicionalmente)

Studies on learning by exclusion have shown that participants tend to select a new object or a new figure when a new word is dictated, rejecting the objects and figures they already know or that were associated with other words. This study aimed at training conditional relations between dictated word-picture and between picture-printed word, by exclusion, and verify whether this training would be a condition for the emergence of relations between dictated word-printed word, printed word-figure, picture naming and reading. We also investigated whether responding to the words dictated with a female voice generalized to other frequencies such as male and child voices. Participants were five children between five and nine years old, with acute neurosensorial bilateral hearing impairment, users of cochlear implant Nucleus 24k®. They were exposed, individually, to tasks that consisted in selecting a comparison stimulus (either picture or printed word) related to the sample (either dictated word or picture). Words with lowest scores on a pre-test were used. The relations between dictated word-figure (AB) and figure-printed word (BC) were taught by exclusion. We assessed the emergence of the relations between dictated and printed words (AC), printed word and picture (CB), male and child voices generalization (A’C and A’’C), naming (BD) and reading (CD). All the children responded by exclusion and learned relations AB and BC, showing receptive vocabulary; AC and CB relations also were learned, consistent with class formation. Responding generalized to male and child voices, but data on naming were not systematic. Learning by exclusion was similar to that of children with typical hearing and these results describe some conditions that can improve receptive verbal repertoire.

Contingências facilitadoras de comportamento verbal em crianças usuárias de implante coclear e práticas parentais: uma intervenção com mães

Pós-graduação em Psicologia do Desenvolvimento e Aprendizagem - FC

Evaluación del tiempo de reacción en velocistas con discapacidad auditiva: estudio piloto

[ES] Este artículo tiene por objeto conocer las posibles diferencias del tiempo de reacción visual (TRV) desde los tacos de salida en velocistas con discapacidad auditiva, usando para dicha salida un estímulo visual mediante un dispositivo luminoso coordinado con la señal sonora de salida.

Methodological proposal for elaboration of learning materials in sing language in university teaching

[EN] Hearing impairment may constitute a barrier for accessing to information and communication in public places. Since the oral communication forms the basis of the learning process, this problem becomes of particular relevance at schools and universities. To cope with this situation is not enough to provide a textual translation for people with hearing disabilities, society via educational authorities must facilitate alternatives that improve access to information and education to this collective. According to this reality, the possibility of having an alternative tool of communication based in the Spanish Sign Language (SSL) emerges as a contribution to help overcoming the communication obstacles that the students with this difficulty usually find.

Development of a genotyping microarray for Usher syndrome

BACKGROUND: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction, displays a high degree of clinical and genetic heterogeneity. Three clinical subtypes can be distinguished, based on the age of onset and severity of the hearing impairment, and the presence or absence of vestibular abnormalities. Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein-coding exons. METHODS: To improve DNA diagnostics for patients with Usher syndrome, we developed a genotyping microarray based on the arrayed primer extension (APEX) method. Allele-specific oligonucleotides corresponding to all 298 Usher syndrome-associated sequence variants known to date, 76 of which are novel, were arrayed. RESULTS: Approximately half of these variants were validated using original patient DNAs, which yielded an accuracy of >98%. The efficiency of the Usher genotyping microarray was tested using DNAs from 370 unrelated European and American patients with Usher syndrome. Sequence variants were identified in 64/140 (46%) patients with Usher syndrome type I, 45/189 (24%) patients with Usher syndrome type II, 6/21 (29%) patients with Usher syndrome type III and 6/20 (30%) patients with atypical Usher syndrome. The chip also identified two novel sequence variants, c.400C>T (p.R134X) in PCDH15 and c.1606T>C (p.C536S) in USH2A. CONCLUSION: The Usher genotyping microarray is a versatile and affordable screening tool for Usher syndrome. Its efficiency will improve with the addition of novel sequence variants with minimal extra costs, making it a very useful first-pass screening tool.

[The model project "newborn auditory screening" in the Upper Palatinate: high process and result quality of an interdisciplinary concept]

BACKGROUND: In May 2003, a newborn auditory screening program was initiated in the Upper Palatinate. METHODS: Sequential OAE- and BERA-screening was conducted in all hospitals with obstetric facilities. The Screening Center at the Public Health Authority was responsible for the coordination of the screening process, completeness of participation, the follow-up of all subjects with a positive screening test and the quality of instrumental screening. RESULTS: A total of 96% of 17,469 newborns were screened. The referral rate at discharge was 1.6% (0.4% for bilateral positive findings). For 97% of the positive screening results, a definite diagnosis to confirm or exclude hearing loss was achieved; for 43% only after intervention by the Screening Center. Fifteen children with profound bilateral hearing impairment were identified of whom eight were only detected by the intervention of the Screening Center. CONCLUSION: The effective structures established in the Upper Palatinate provide a standard for the quality of neonatal auditory screening achievable in Germany.

Matrix metalloproteinase (MMP)-8 and MMP-9 in cerebrospinal fluid during bacterial meningitis: association with blood-brain barrier damage and neurological sequelae.

To evaluate the spectrum and regulation of matrix metalloproteinases (MMPs) in bacterial meningitis (BM), concentrations of MMP-2, MMP-3, MMP-8, and MMP-9 and endogenous inhibitors of metalloproteinases (TIMP-1 and TIMP-2) were measured in the cerebrospinal fluid (CSF) of 27 children with BM. MMP-8 and MMP-9 were detected in 91% and 97%, respectively, of CSF specimens from patients but were not detected in control patients. CSF levels of MMP-9 were higher (P<.05) in 5 patients who developed hearing impairment or secondary epilepsy than in those who recovered without neurological deficits. Levels of MMP-9 correlated with concentrations of TIMP-1 (P<.001) and tumor necrosis factor-alpha (P=.03). Repeated lumbar punctures showed that levels of MMP-8 and MMP-9 were regulated independently and did not correlate with the CSF cell count. Therefore, MMPs may derive not only from granulocytes infiltrating the CSF space but also from parenchymal cells of the meninges and brain. High concentrations of MMP-9 are a risk factor for the development of postmeningitidal neurological sequelae.

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

We report a novel homozygous missense mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene in two consanguineous Turkish families associated with deafness, Fanconi syndrome (tubulopathy), microcephaly, mental and growth retardation. All three patients presented with transitory metabolic acidosis in the neonatal period and development of persistent renal de Toni-Debré-Fanconi-type tubulopathy, with subsequent rachitis, short stature, microcephaly, sensorineural hearing impairment, mild mental retardation and liver dysfunction. The novel missense mutation c.142A>G (p.M48V) in BCS1L is located at a highly conserved region associated with sorting to the mitochondria. Biochemical analysis revealed an isolated complex III deficiency in skeletal muscle not detected in fibroblasts. Native polyacrylamide gel electrophoresis (PAGE) revealed normal super complex formation, but a shift in mobility of complex III most likely caused by the absence of the BCS1L-mediated insertion of Rieske Fe/S protein into complex III. These findings expand the phenotypic spectrum of BCS1L mutations, highlight the importance of biochemical analysis of different primary affected tissue and underline that neonatal lactic acidosis with multi-organ involvement may resolve after the newborn period with a relatively spared neurological outcome and survival into adulthood. CONCLUSION Mutation screening for BCS1L should be considered in the differential diagnosis of severe (proximal) tubulopathy in the newborn period. What is Known: • Mutations in BCS1L cause mitochondrial complex III deficiencies. • Phenotypic presentations of defective BCS1L range from Bjornstad to neonatal GRACILE syndrome. What is New: • Description of a novel homozygous mutation in BCS1L with transient neonatal acidosis and persistent de Toni-Debré-Fanconi-type tubulopathy. • The long survival of patients with phenotypic presentation of severe complex III deficiency is uncommon.

Analysis of symptoms of rural workers exposed to pesticides

This cross-sectional study was conducted in southern Minas Gerais, in two counties: São Gonçalo do Sapucaí and Silvianópolis. Presented as objective to verify the important variables associated with the occurrence of symptoms of subacute intoxication related to pesticides exposure. A questionnaire was dedicated to a sample of 412 workers. An analysis of non-conditional logistic regression was applied gradually. The likelihood ratio method was used to define the significant variables in the final model. Of the analysed population, 59.2% reported symptoms typical of subacute intoxication. Of the respondents, 91.5% reported knowing the deleterious effects associated with exposure to pesticides. The adjusted model was found with the significant variables: being male that presented Prevalence Odds Ratio (POR) adjusted . PORof 0.54 (95% CI 0.36 to 0.81), already hospitalized for poisoning with pesticides, POR of 3.26 (95% CI 1.08 to 9.82), living in the rural area of residence., POR of 2.17 (95% CI 1.20 to 3.93) and type of employment relationship or temporary employment, POR of 2.32 (95% CI 1.08 to 4.95).

Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding α-N-acetylglucosaminidase

The Sanfilippo syndrome type B is an autosomal recessive disorder caused by mutation in the gene (NAGLU) encoding α-N-acetylglucosaminidase, a lysosomal enzyme required for the stepwise degradation of heparan sulfate. The most serious manifestations are profound mental retardation, intractable behavior problems, and death in the second decade. To generate a model for studies of pathophysiology and of potential therapy, we disrupted exon 6 of Naglu, the homologous mouse gene. Naglu−/− mice were healthy and fertile while young and could survive for 8–12 mo. They were totally deficient in α-N-acetylglucosaminidase and had massive accumulation of heparan sulfate in liver and kidney as well as secondary changes in activity of several other lysosomal enzymes in liver and brain and elevation of gangliosides GM2 and GM3 in brain. Vacuolation was seen in many cells, including macrophages, epithelial cells, and neurons, and became more prominent with age. Although most vacuoles contained finely granular material characteristic of glycosaminoglycan accumulation, large pleiomorphic inclusions were seen in some neurons and pericytes in the brain. Abnormal hypoactive behavior was manifested by 4.5-mo-old Naglu−/− mice in an open field test; the hyperactivity that is characteristic of affected children was not observed even in younger mice. In a Pavlovian fear conditioning test, the 4.5-mo-old mutant mice showed normal response to context, indicating intact hippocampal-dependent learning, but reduced response to a conditioning tone, perhaps attributable to hearing impairment. The phenotype of the α-N-acetylglucosaminidase-deficient mice is sufficiently similar to that of patients with the Sanfilippo syndrome type B to make these mice a good model for study of pathophysiology and for development of therapy.

Ototoxicidade

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014