RESUMO A Variante da Síndrome de Dandy-Walker apresenta uma forma mais branda em relação à Síndrome de Dandy-Walker, sendo a hipoplasia do vermes menos acentuada e dentre suas características, a deficiência auditiva. O estudo objetivou relatar o caso de um paciente do sexo masculino, 4:5 anos, quadro compatível com Variante da Síndrome, usuário de implante coclear, referenciado ao serviço de reabilitação com equipe multidisciplinar. Foi inserido em terapia com fonoaudiólogo e fisioterapeuta, no período entre julho a dezembro de 2016, totalizando 20 sessões, com ênfase na abordagem Aurioral. Avaliou-se sua evolução quanto às habilidades auditivas e motoras, por meio de instrumentos padronizados que auxiliaram na catalogação da evolução e das respostas do paciente de maneira empírica. O desenvolvimento das habilidades auditivas e motoras, avaliadas por meio de testes utilizados como parâmetros de evolução terapêutica demonstraram que a reabilitação, realizada em equipe multiprofissional, pode ser aplicada satisfatoriamente no gerenciamento de casos em que a surdez não aparece como único fator. Sugere-se que o implante coclear, apesar das dificuldades peculiares à síndrome, pode ser um recurso eficiente para aquisição da linguagem oral e alcance de etapas mais complexas relacionadas às habilidades auditivas e de linguagem.

ABSTRACT Dandy-Walker Syndrome Variant presents itself as a milder form of Dandy-Walker Syndrome, with less pronounced vermis hypoplasia, and hearing impairment is among its characteristics. This study aimed to report the case of a male patient aged 4.5 clinically diagnosed with Dandy-Walker Syndrome variant, a cochlear implant user, who was referred to rehabilitation services and followed up by a multidisciplinary team. The patient underwent therapy assisted by an audiologist/speech therapist and a physiotherapist between June 2016 and December 2016, totaling 20 sessions, with emphasis on the Aurioral approach. His evolution regarding hearing and motor abilities was evaluated through standardized instruments that helped to catalogue the patient’s evolution and responses in an empirical way. The development of his auditory and motor skills, evaluated through standardized tests used as parameters of therapeutic evolution, demonstrated that rehabilitation, performed by a multi-professional team, can be satisfactorily applied in the management of cases where deafness does not appear as the only associated factor. It is suggested that a cochlear implant, despite the difficulties peculiar to the syndrome in question, can be an effective resource to acquire oral language and reach more complex stages related to hearing and language skills.

Abstract The aim of this study was to evaluate the cytotoxic effect, degree of conversion (% DC), Vickers hardness (VH), and surface morphology of composite resins. Eleven resins, nine bulk-fill resins, and two conventional resins were evaluated. Each material was sampled to evaluate DC (using FTIR), VH, cytotoxicity (using MTT and Neutral Red - NR test), surface morphology (using SEM and AFM), and organic filler (using EDS). All statistical tests were performed with SPSS and the level of significance was set at 0.05. MTT revealed that the materials presented low or no cytotoxic potential in relation to the control. Opus was the resin with the lowest cell viability at a 1:2 concentration at 72 h (32%) and at 7 days (43%), but that significantly increased when the NR test was applied at a 1:2 concentration after 7 days. Thickness and surface subjected to polymerization had no influence on DC, and differences were observed only between the materials. In the microhardness test, statistical differences were observed between the evaluated thicknesses. The bulk-fill resins analyzed in this study exhibited low and/or no cytotoxicity to L929 cells, except for Opus, which showed moderate cytotoxicity according to the MTT assay. When the NR test was used, results were not satisfactory for all composites, indicating the need for different methodologies to evaluate the properties of these materials. The assessed resins demonstrated acceptable physicomechanical properties.

CONTEXTO: Níveis séricos anormais de ferritina são encontrados em aproximadamente 20%-30% dos pacientes com hepatite crônica C e estão associadas a uma baixa taxa de resposta à terapia com interferon. OBJETIVO: Avaliar a associação entre a presença de mutações do gene HFE e a taxa de resposta virológica sustentada ao interferon em pacientes portadores de hepatite crônica C com ferritina sérica elevada. MÉTODOS: Um total de 44 pacientes, virgem de tratamento, infectado pelo vírus da hepatite C de genótipos não-1 (38 genótipo 3; 6 genótipo 2) e ferritina sérica acima de 500 ng/mL foi tratado com interferon (3 MU, três vezes por semana) e ribavirina (1000 mg/dia) por 24 semanas. Resposta virológica sustentada foi definida como HCV-RNA indetectável 24 semanas após o fim do tratamento. Foi utilizado técnica de reação em cadeia da polimerase em tempo-real com limite de detecção de 200 UI /mL. RESULTADOS: Mutações do gene HFE foram detectadas por "restriction-enzyme digestion" com RsaI (análise de mutação C282Y) e BclI (análise de mutação H63D) em 16 pacientes (37%), todos heterozigotos (11 H63D, 2 C282Y e 3 ambos). Resposta virológica sustentada foi alcançada em 0 de 16 pacientes com mutações do gene HFE e 11 (41%) dos 27 pacientes sem mutações do gene HFE (P = 0,002; teste exato de Fisher). CONCLUSÃO: A heterozigose para os genes H63D e/ou C282Y HFE está associada à redução significativa da taxa de resposta virológica sustentada ao tratamento com interferon e ribavirina em pacientes com hepatite crônica C, genótipo não-1 e com níveis séricos de ferritina acima de 500 ng/mL.

CONTEXT: Abnormal serum ferritin levels are found in approximately 20%-30% of the patients with chronic hepatitis C and are associated with a lower response rate to interferon therapy. OBJECTIVE: To determine if the presence of HFE gene mutations had any effect on the sustained virological response rate to interferon based therapy in chronic hepatitis C patients with elevated serum ferritin. METHODS: A total of 44 treatment naÏve patients with histologically demonstrated chronic hepatitis C, all infected with hepatitis C virus genotype non-1 (38 genotype 3; 6 genotype 2) and serum ferritin above 500 ng/mL were treated with interferon (3 MU, 3 times a week) and ribavirin (1.000 mg, daily) for 24 weeks. RESULTS: Sustained virological response was defined as negative qualitative HCV-RNA more than 24 weeks after the end of treatment. Serum HCV-RNA was measured by qualitative in house polymerase chain reaction with a limit of detection of 200 IU/mL. HFE gene mutation was detected using restriction-enzyme digestion with RsaI (C282Y mutation analysis) and BclI (H63D mutation analysis) in 16 (37%) patients, all heterozygous (11 H63D, 2 C282Y and 3 both). Sustained virological response was achieved in 0 of 16 patients with HFE gene mutations and 11 (41%) of 27 patients without HFE gene mutations (P = 0.002; exact Fisher test). CONCLUSION: Heterozigozity for H63D and/or C282Y HFE gene mutation predicts absence of sustained virological response to combination treatment with interferon and ribavirin in patients with chronic hepatitis C, non-1 genotype and serum ferritin levels above 500 ng/mL.

BACKGROUND AND OBJECTIVES: Evidence suggests that sustained virologic response to interferon treatment decreases incidence of hepatocellular carcinoma in patients with hepatitis C virus cirrhosis. This study was designed to compare the incidence of hepatocellular carcinoma among cirrhotic patients exposed to interferon based treatment with or without achieving a sustained virological response, in order to evaluate the role of interferon itself in the prevention hepatocellular carcinoma. METHODS: A cohort of 85 patients with compensated hepatitis C cirrhosis was followed after treatment with interferon and ribavirin. Sustained virological response was defined as negative polymerase chain reaction assay 24 weeks after the end of treatment. Patients were followed every 6 months with ultrasound and alpha-fetoprotein. Hepatocellular carcinoma was diagnosed by the finding of a focal liver lesion greater than 2 cm with arterial hypervascularization on two imaging techniques and/or by liver biopsy. RESULTS: The mean follow-up time was 32.1 ± 20 months for patients who achieved a sustained virological response and 28.2 ± 18 months among 47 patients (55%) without SVR. Hepatocellular carcinoma was diagnosed in 1 (3%) vs. 8 (17%) responders and non responders respectively (p = 0.02). CONCLUSION: Patients with cirrhosis due to hepatitis C virus who achieved sustained virological response had significantly lower incidence of hepatocellular carcinoma when compared to those without treatment response. Interferon treatment without achieving sustained virological response does not seem to protect against hepatocellular carcinoma