Severe obstructive sleep apnea treatment with mandibular advancement device: A case report

Mandibular advancement device (MAD) has been described as an alternative treatment to the severe obstructive sleep apnea (OSA), once it is not as effective as the continuous positive airway pressure therapy (CPAP) in reducing the apnea and hypopnea index (AHI). The objective of this study is to report a case using a MAD in a CPAP-intolerant patient suffering from severe OSA. Polysomnography exams were performed before and after treatment. Five months after fitting and titrating the MAD, the AHI was reduced from 80.5 events/hour to 14.6 events/hour and the minimum oxyhemoglobin saturation (SpO2) increased from 46% to 83%. A two-year assessment of therapy revealed an AHI of 8 events/hour and SpO2 of 85%

Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome

Background: Obstructive sleep apnea syndrome (OSAS) (OMIM #107650) is characterized by complete or partial obstruction of the upper airways, resulting in periods of sleep associated apnea. OSAS increases morbidity and mortality risk from cardiovascular and cerebrovascular diseases. While heritability of OSAS is estimated at ∼40%, the precise underlying genes remain elusive. Brazilian families with OSAS that follows as seemingly autosomal dominant inheritance pattern were recruited.Methods: The study included nine individuals from two Brazilian families displaying a seemingly autosomal dominant inheritance pattern of OSAS. Whole exome sequencing of germline DNA were analyzed using Mendel, MD software. Variants selected were analyzed using Varstation® with subsequent analyses that included validation by Sanger sequencing, pathogenic score assessment by ACMG criteria, co-segregation analyses (when possible) allele frequency, tissue expression patterns, pathway analyses, effect on protein folding modeling using Swiss-Model and RaptorX.Results: Two families (six affected patients and three unaffected controls) were analyzed. A comprehensive multistep analysis yielded variants in COX20 (rs946982087) (family A), PTPDC1 (rs61743388) and TMOD4 (rs141507115) (family B) that seemed to be strong candidate genes for being OSAS associated genes in these families.Conclusion: Sequence variants in COX20, PTPDC1 and TMOD4 seemingly are associated with OSAS phenotype in these families. Further studies in more, ethnically diverse families and non-familial OSAS cases are needed to better define the role of these variants as contributors to OSAS phenotype

Analisando as pesquisas em educação especial no Brasil Analysing research in special education in Brazil

Nosso objetivo foi examinar a articulação lógica entre o problema e a proposição teórico-metodológica das produções na área da Educação Especial, focando os seus pressupostos epistemológicos. Nos fundamentamos nos pressupostos das tendências empírico-analítica, fenomenológica-hermenêutica, crítico-dialética e do paradigma da complexidade. O procedimento adotado foi interpretar todas as dissertações/teses produzidas nos Programas de Pós-Graduação em Educação e Educação Especial do Brasil, que versam sobre Educação Especial, produzidas nos anos de 2001, 2002 e 2003, disponíveis no banco de teses da CAPES. Encontramos as tendências empírica, fenomenológica e dialética. Os equívocos encontrados foram a não inserção da pesquisa entre as produções na área; ausência de criticidade; não posicionamento numa determinada concepção de educação; construção teórica fundamentada em concepções diferentes; falta de coerência nos pressupostos teórico-metodológicos; não explicitação metodológica; não descrição dos procedimentos éticos; e má elaboração dos resumos. Concluímos pela necessidade da melhoria das dissertações/teses para que possamos avançar na produção de conhecimento na área da Educação Especial.<br>Our objective was to analyze the logical articulation between the problem and the theoretical-methodological proposal of studies in the field of Special Education, focusing on the epistemological issues. We based our study on the empiric-analytical tendencies, phenomenology-hermeneutic, critical-dialectical and the complexity paradigm. The procedure that was adopted was interpreting all dissertations/thesis produced in Post-Graduate programs in Education and Special Education in Brazil, which focus on Special Education, produced in 2001, 2002 and 2003, available online at CAPES' thesis database. We found empirical, phenomenological and dialectic tendencies. The errors encountered included the failure to include the research among the productions in the field; lack of critical approach; lack of making explicit what educational conception the study was based on; theoretical construction based on different conceptions; lack of coherence in the theoretical-methodological proposals; lack of methodological specification; absence of ethical procedural descriptions; and poorly written abstracts. We came to the conclusion that improvements in theses /dissertations are necessary so as to continually move forward in the production of knowledge in the field of Special Education