Apolipoprotein E polymorphisms and sleep quality in Obstructive Sleep Apnea Syndrome

Background: the purpose of this study was to evaluate the influence of polymorphism on sleep parameters of Obstructive Sleep Apnea Syndrome (OSAS) patients.Methods: Patients were genotyped after a full-night polysomnography using the large Epidemiologic Sleep Study of São Paulo population-based sample.Results: Individuals who carry the APOE epsilon 2 allele showed longer sleep latency, lower sleep efficiency and higher numbers of arousals/hour, when compared to epsilon 3 allele homozygous and carriers of epsilon 4 allele (p<0.05). These findings remained significant even after correction for potential confounders, such as sex, age and African genetic ancestry.Conclusion: the APOE polymorphisms may modulate the effects of intermittent hypoxia and sleep fragmentation in the sleep architecture of OSAS patients, and that the presence of the epsilon 2 allele may serve as a biological marker for the identification of a subgroup of patients who are more likely to suffer with OSAS detrimental effects on sleep, impacting not only the daily functioning, but also their quality of life. (C) 2011 Elsevier B.V. All rights reserved.Associacao Fundo de Incentivo a Psicofarmacologia (AFIP)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Universidade Federal de São Paulo, Dept Psicobiol, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Psicobiol, São Paulo, BrazilFAPESP: 07/50525-1FAPESP: 98/14303-3Web of Scienc

Association Between Uric Acid Levels and Obstructive Sleep Apnea Syndrome in a Large Epidemiological Sample

Introduction: Recurrent hypoxia, which is associated with obstructive sleep apnea syndrome (OSAS), leads to an increase in the degradation of adenosine triphosphatase into xanthine, which in turn increases uric acid concentrations.Objective: the current study aimed to determine whether an association exists between OSAS and uric acid levels in the peripheral blood from a representative population of São Paulo (Brazil).Methods: A population-based survey adopting a probabilistic 3-stage cluster sample of São Paulo was used to represent the population according to gender, age, and socioeconomic class. A total of 1,042 volunteers underwent polysomnography recordings for OSAS diagnosis, blood pressure assessment, and biochemical blood analysis, and answered questionnaires.Results: Uric acid levels were correlated with most important risk factors for OSAS, such as AHI, desaturation time and index, minimum oxyhemoglobin saturation (SpO(2)), blood pressure, cholesterol, BMI, triglycerides and arousal, and with OSAS itself. Also, uric acid was increased in OSAS volunteers even after controlling for all confounders. Hyperuricemic volunteers presented lower mean and minimum SpO(2) and increased desaturation index. Importantly, minimum SpO(2) was a significant predictor of uric acid levels, which in turn was considered an independent predictor for OSAS in the binary logistic model. However, a ROC curve analysis for establishing cut-off points for uric acid levels as a biomarker of OSAS revealed moderate sensitivity and specificity.Conclusion: A strong association was found between uric acid levels and OSAS in a representative sample of the population of São Paulo. Although they do not qualify for a biomarker alone, uric acid levels may be involved in OSAS severity and should be considered in sleep apnea management in the future.Associacao Fundo de Incentivo a Pesquisa (AFIP)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Universidade Federal de São Paulo, Dept Psicobiol, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Psicobiol, São Paulo, BrazilFAPESP: CEPID 98/14303-3FAPESP: 10/50129-1Web of Scienc

Human longevity is associated with regular sleep patterns, maintenance of slow wave sleep, and favorable lipid profile

Some individuals are able to successfully reach very old ages, reflecting higher adaptation against age-associated effects. Sleep is one of the processes deeply affected by aging; however few studies evaluating sleep in long-lived individuals (aged over 85) have been reported to date. the aim of this study was to characterize the sleep patterns and biochemical profile of oldest old individuals (N = 10, age 85-105 years old) and compare them to young adults (N = 15, age 20-30 years old) and older adults (N = 13, age 60-70 years old). All subjects underwent full-night polysomnography, 1-week of actigraphic recording and peripheral blood collection. Sleep electroencephalogram spectral analysis was also performed. the oldest old individuals showed lower sleep efficiency and REM sleep when compared to the older adults, while stage N3 percentage and delta power were similar across the groups. Oldest old individuals maintained strictly regular sleep-wake schedules and also presented higher HDL-cholesterol and lower triglyceride levels than older adults. the present study revealed novel data regarding specific sleep patterns and maintenance of slow wave sleep in the oldest old group. Taken together with the favorable lipid profile, these results contribute with evidence to the importance of sleep and lipid metabolism regulation in the maintenance of longevity in humans.Associacao Fundo de Incentivo a Pesquisa (AFIP)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Universidade Federal de São Paulo, Dept Psicobiol, BR-04024002 São Paulo, BrazilUniversidade Federal de São Paulo, Disciplina Geriatria & Gerontol, BR-04024002 São Paulo, BrazilUniversidade Federal de São Paulo, Dept Prevent Med, BR-04024002 São Paulo, BrazilUniversidade Federal de São Paulo, Dept Psicobiol, BR-04024002 São Paulo, BrazilUniversidade Federal de São Paulo, Disciplina Geriatria & Gerontol, BR-04024002 São Paulo, BrazilUniversidade Federal de São Paulo, Dept Prevent Med, BR-04024002 São Paulo, BrazilFAPESP: 11/18976-9Web of Scienc

Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports

We discussed two cases of symptomatic female carriers to Duchenne Muscular Dystrophy. The first case is a 20 year-old girl with classical phenotypic manifestation of the disease, similar to the condition in boys. The case 2 is a 62 year-old woman with progressive muscular weakness. The disease is much less common in woman than men so both cases described here are considered rare forms of the disease, with several clinical implications. In both cases, a progressive muscle weakness, impairment in walking and sleeping was observed, in addition to obstructive sleep apnea syndrome and alveolar hypoventilation, that required noninvasive ventilatory support. (C) 2016 Brazilian Association of Sleep. Production and Hosting by Elsevier B.V.AFIPCAPESCNPqFAPESPUniv Fed Sao Paulo, Dept Psychobiol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Psychobiol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, BrazilFAPESP: 2014/08067-0Web of Scienc

Adenosine Deaminase Polymorphism Affects Sleep EEG Spectral Power in a Large Epidemiological Sample

Slow wave oscillations in the electroencephalogram (EEG) during sleep may reflect both sleep need and intensity, which are implied in homeostatic regulation. Adenosine is strongly implicated in sleep homeostasis, and a single nucleotide polymorphism in the adenosine deaminase gene (ADA G22A) has been associated with deeper and more efficient sleep. the present study verified the association between the ADA G22A polymorphism and changes in sleep EEG spectral power (from C3-A2, C4-A1, O1-A2, and O2-A1 derivations) in the Epidemiologic Sleep Study (EPISONO) sample from São Paulo, Brazil. Eight-hundred individuals were subjected to full-night polysomnography and ADA G22A genotyping. Spectral analysis of the EEG was carried out in all individuals using fast Fourier transformation of the signals from each EEG electrode. the genotype groups were compared in the whole sample and in a subsample of 120 individuals matched according to ADA genotype for age, gender, body mass index, caffeine intake status, presence of sleep disturbance, and sleep-disturbing medication. When compared with homozygous GG genotype carriers, A allele carriers showed higher delta spectral power in Stage 1 and Stages 3+4 of sleep, and increased theta spectral power in Stages 1, 2 and REM sleep. These changes were seen both in the whole sample and in the matched subset. the higher EEG spectral power indicates that the sleep of individuals carrying the A allele may be more intense. Therefore, this polymorphism may be an important source of variation in sleep homeostasis in humans, through modulation of specific components of the sleep EEG.Associacao Fundo de Incentivo a Psicofarmacologia (AFIP)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Universidade Federal de São Paulo, Dept Psicobiol, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Psiquiatria, Lab Neurociencias Clin LiNC, São Paulo, BrazilUniv Fed ABC, Ctr Matemat Comp & Cognicao, Santo Andre, BrazilUniversidade Federal de São Paulo, Dept Psicobiol, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Psiquiatria, Lab Neurociencias Clin LiNC, São Paulo, BrazilFAPESP: 98/14303-3Web of Scienc

Contribuições dos sistemas de informações no gerenciamento de riscos hospitalares:: revisão integrativa da literatura

O objetivo deste estudo foi identificar as contribuições dos sistemas de informações hospitalares para o gerenciamento de riscos em saúde e em enfermagem. Trata-se de uma revisão integrativa da literatura na SciELO e nas Bases de Dados LILACS,&nbsp;Medline, de 2004 a 2014, utilizando os descritores&nbsp;hospital,&nbsp;information,&nbsp;system,&nbsp;nursing,&nbsp;management,&nbsp;risk&nbsp;e&nbsp;safety. Foram identificadas 10 pesquisas que apontam as contribuições e fatores que influenciam a aplicação de Sistemas de Informação Hospitalares para o Gerenciamento de Riscos em Saúde e Enfermagem, com ênfase para os aspectos sociotécnicos e abordagens que favoreçam a cultura de segurança institucional integrada a políticas preventivas e corretivas no nível técnico, individual, institucional, social, nacional e internacional. O profissional da enfermagem possui grande envolvimento no atendimento do paciente, sendo assim o objetivo da implementação do sistema de informação deve estar conectado com o objetivo da enfermagem para garantir a adesão e sua aplicação de maneira adequada. Identificou-se potencialidades e barreiras no uso do sistema de informação no gerenciamento, a superação destas barreiras requer investimentos estruturais e processuais

Catechol-O-methyltransferase (COMT) polymorphisms modulate working memory in individuals with schizophrenia and healthy controls

Objective: Cognitive impairment is a core feature of schizophrenia, related to dopaminergic dysfunction in the prefrontal cortex (PFC). It is hypothesized that functional single nucleotide polymorphism (SNP) rs4680 of the catechol-O-methyltransferase (COMT) gene could mediate the relationship between cognition and dopamine activity in the PFC. Other COMT SNPs could also play a role. Methods: We evaluated the role of three COMT SNPs (rs737865, rs165599, and rs4680) in schizophrenia and their impact on three working memory tasks. For genetic association analyses, 212 individuals with schizophrenia and 257 healthy controls (HCs) were selected. The Visual Working Memory (VWM) Task, Keep Track Task, and Letter Memory Task were administered to 133 schizophrenics and 93 HCs. Results: We found a significant association of rs737865, with the GG genotype exerting a protective effect and the GA haplotype (rs4680/rs165599) exerting a risk effect for schizophrenia. COMT rs4680 AA carriers and rs737865 AA carriers scored lowest on the Keep Track Task. When the genotype* group interaction effect was evaluated, rs165599 exerted opposite effects for VWM and Keep Track task performance in patients and controls, with AA carriers scoring lowest on both tests among controls, but highest among patients. Conclusion: These data support the hypothesis that COMT polymorphisms may be associated with schizophrenia and modulate cognition in patients and controls.Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP), BrazilUniv Fed Sao Paulo UNIFESP, Dept Psiquiatria, Sao Paulo, SP, BrazilFMABC, Dept Saude Colet, Santo Andre, SP, BrazilUniv Fed Sao Paulo, Lab Interdisciplinar Neurociencias Clin LiNC, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Morfol & Genet, Disciplina Genet, Sao Paulo, SP, BrazilCtr Univ Fundcao Inst Ensino Osasco UNIFIEO, Dept Psicol Educ, Osasco, SP, BrazilUniv Fed Sao Paulo, Dept Psicobiol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept Psiquiatria, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Lab Interdisciplinar Neurociencias Clin LiNC, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Morfol & Genet, Disciplina Genet, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Psicobiol, Sao Paulo, SP, BrazilFAPESP: 2007/58736-1FAPESP: 2011/50740-5Web of Scienc