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Texto completo: acesso restrito. p. 1077–1082 Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2014-05-20T16:00:17Z No. of bitstreams: 1 1-s2.0-S0165587613001493-main.pdf: 646586 bytes, checksum: e8f66231c2ea1aa83bca064648526d0f (MD5) Approved for entry into archive by Flávia Ferreira (flaviaccf@yahoo.com.br) on 2014-06-04T16:24:04Z (GMT) No. of bitstreams: 1 1-s2.0-S0165587613001493-main.pdf: 646586 bytes, checksum: e8f66231c2ea1aa83bca064648526d0f (MD5) Made available in DSpace on 2014-06-04T16:24:04Z (GMT). No. of bitstreams: 1 1-s2.0-S0165587613001493-main.pdf: 646586 bytes, checksum: e8f66231c2ea1aa83bca064648526d0f (MD5) Previous issue date: 2013 Objective: There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology. Methods: The present study investigated 81 subjects with hearing impairment (HI) recruited from 36 families. Mutations often associated with HI, i.e. the DFNB1 mutations c.35delG in GJB2, deletions del(GJB6-D13S1830) and del(GJB6-D13S1854), and A1555G in the mitochondrial gene MTRNR1 were initially analyzed, with additional mutations in GJB2 identified by sequencing the coding region of the gene. Results: Seven different mutations were present in GJB2 with mutations c.35delG and p.Arg75Gln, which are known to be pathogenic, identified in 37.0% of the subjects. Individuals homozygous for the c.35delG mutation were diagnosed in eight families, corresponding to 24.7% of unrelated individuals with nonsyndromic hearing impairment (NSHI), and an additional heterozygote for this mutation was present in a single family. Ten individuals (12.4%) in another family were heterozygous for the mutation p.Arg75Gln. Conclusions: Significant heterogeneity was observed in the alleles and patterns of NSHI inheritance among the subjects studied, probably due to the extensive inter-ethnic admixture that characterizes the peoples of Brazil, together with a high prevalence of community endogamy and consanguineous marriage.

Background: Oral clefts are one of the most common birth defects with significant medical, psychosocial, and economic ramifications. Oral clefts have a complex etiology with genetic and environmental risk factors. There are suggestive results for decreased risks of cleft occurrence and recurrence with folic acid supplements taken at preconception and during pregnancy with a stronger evidence for higher than lower doses in preventing recurrence. Yet previous studies have suffered from considerable design limitations particularly non-randomization into treatment. There is also well-documented effectiveness for folic acid in preventing neural tube defect occurrence at 0.4 mg and recurrence with 4 mg. Given the substantial burden of clefting on the individual and the family and the supportive data for the effectiveness of folic acid supplementation as well as its low cost, a randomized clinical trial of the effectiveness of high versus low dose folic acid for prevention of cleft recurrence is warranted. Methods/design: This study will assess the effect of 4 mg and 0.4 mg doses of folic acid, taken on a daily basis during preconception and up to 3 months of pregnancy by women who are at risk of having a child with nonsyndromic cleft lip with/without palate (NSCL/P), on the recurrence of NSCL/P. The total sample will include about 6,000 women (that either have NSCL/P or that have at least one child with NSCL/P) randomly assigned to the 4 mg and the 0.4 mg folic acid study groups. The study will also compare the recurrence rates of NSCL/P in the total sample of subjects, as well as the two study groups (4mg, 0.4 mg) to that of a historical control group. The study has been approved by IRBs (ethics committees) of all involved sites. Results will be disseminated through publications and presentations at scientific meetings. Discussion: The costs related to oral clefts are high, including long term psychological and socio-economic effects. This study provides an opportunity for huge savings in not only money but the overall quality of life. This may help establish more specific clinical guidelines for oral cleft prevention so that the intervention can be better tailored for at-risk women.

P. 344-351. Submitted by JURANDI DE SOUZA SILVA (jssufba@hotmail.com) on 2011-09-13T18:25:01Z No. of bitstreams: 1 0681.pdf: 253767 bytes, checksum: 5e53ee6fc9e446d946fcacb26c06db5c (MD5) Made available in DSpace on 2011-09-13T18:25:01Z (GMT). No. of bitstreams: 1 0681.pdf: 253767 bytes, checksum: 5e53ee6fc9e446d946fcacb26c06db5c (MD5) Previous issue date: 2008 Objetivo: Identificar as principais alterações audiológicas em indivíduos portadores de distrofia miotônica de Steinert.Métodos: Cinco indivíduos foram submetidos à audiometria tonal e vocal, imitanciometria, teste de função tubária, pesquisa do reflexo estapediano, declínio do reflexo acústico e aplicação de dois questionários: a) Desempenho da função auditiva; b) Investigação psico-acústica-social. Resultados: O estudo demonstrou que 60% da amostra apresentaram limiares auditivos dentro dos padrões de normalidade, 10% perda condutiva e 30% perda auditiva nas freqüências altas. Em relação aos reflexos estapedianos, observou-se o percentual de alteração de 30% nas freqüências de 0,5 e 1 kHz e de 40% em 2 e 4 kHz. Observou-se declínio do reflexo acústico em 10% da amostra nas freqüências de 0,5 e 1 kHz. Conclusão: O estudo mostrou que o padrão audiológico típico de perda auditiva em freqüências altas foi observado em 30% da amostra. São Paulo

OBJETIVO: Identificar as principais alterações audiológicas em indivíduos portadores de distrofia miotônica de Steinert. MÉTODOS: Cinco indivíduos foram submetidos à audiometria tonal e vocal, imitanciometria, teste de função tubária, pesquisa do reflexo estapediano, declínio do reflexo acústico e aplicação de dois questionários: a) Desempenho da função auditiva; b) Investigação psico-acústica-social. RESULTADOS: O estudo demonstrou que 60% da amostra apresentaram limiares auditivos dentro dos padrões de normalidade, 10% perda condutiva e 30% perda auditiva nas freqüências altas. Em relação aos reflexos estapedianos, observou-se o percentual de alteração de 30% nas freqüências de 0,5 e 1 kHz e de 40% em 2 e 4 kHz. Observou-se declínio do reflexo acústico em 10% da amostra nas freqüências de 0,5 e 1 kHz. CONCLUSÃO: O estudo mostrou que o padrão audiológico típico de perda auditiva em freqüências altas foi observado em 30% da amostra. PURPOSE: To identify the main hearing disorders in individuals with Steinert's myotonic dystrophy. METHODS: Five individuals were submitted to tonal and vocal audiometry, acoustic impedance tests, examination of Eustaquian tube function, acoustic reflex investigation, and acoustic reflex decay. They also answered two questionnaires: a) Performance of auditory function; b) Psycho-acoustic-social investigation. RESULTS: The study showed that 60% of the sample presented normal hearing thresholds, 10% had conductive hearing loss and 30% had hearing loss in high frequencies. Concerning acoustic reflexes, it was observed that 30% of the subjects presented deficits at 0.5 and 1 kHz and 40% at 2 and 4 kHz. Acoustic reflex decay was observed in 10% of the sample at 0,5 and 1 kHz. CONCLUSION: The study showed that the typical auditory profile of high-frequencies hearing loss was observed in 30% of the sample.

Background Oral clefts are one of the most common birth defects with significant medical, psychosocial, and economic ramifications. Oral clefts have a complex etiology with genetic and environmental risk factors. There are suggestive results for decreased risks of cleft occurrence and recurrence with folic acid supplements taken at preconception and during pregnancy with a stronger evidence for higher than lower doses in preventing recurrence. Yet previous studies have suffered from considerable design limitations particularly non-randomization into treatment. There is also well-documented effectiveness for folic acid in preventing neural tube defect occurrence at 0.4 mg and recurrence with 4 mg. Given the substantial burden of clefting on the individual and the family and the supportive data for the effectiveness of folic acid supplementation as well as its low cost, a randomized clinical trial of the effectiveness of high versus low dose folic acid for prevention of cleft recurrence is warranted. Methods/design This study will assess the effect of 4 mg and 0.4 mg doses of folic acid, taken on a daily basis during preconception and up to 3 months of pregnancy by women who are at risk of having a child with nonsyndromic cleft lip with/without palate (NSCL/P), on the recurrence of NSCL/P. The total sample will include about 6,000 women (that either have NSCL/P or that have at least one child with NSCL/P) randomly assigned to the 4 mg and the 0.4 mg folic acid study groups. The study will also compare the recurrence rates of NSCL/P in the total sample of subjects, as well as the two study groups (4mg, 0.4 mg) to that of a historical control group. The study has been approved by IRBs (ethics committees) of all involved sites. Results will be disseminated through publications and presentations at scientific meetings. Discussion The costs related to oral clefts are high, including long term psychological and socio-economic effects. This study provides an opportunity for huge savings in not only money but the overall quality of life. This may help establish more specific clinical guidelines for oral cleft prevention so that the intervention can be better tailored for at-risk women. ClinicalTrials.gov Identifier NCT00397917