Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder.

Pogo transposable element-derived protein with ZNF domain (POGZ) gene encodes a chromatin regulator and rare variants on this gene have been associated with a broad spectrum of neurodevelopmental disorders, such as White-Sutton syndrome. Patient clinical manifestations frequently include developmental delay, autism spectrum disorder and obesity. Sleep disturbances are also commonly observed in these patients, yet the biological pathways which link sleep traits to the POGZ-associated syndrome remain unclear. We screened for sleep implications among individuals with causative POGZ variants previously described. Sleep disturbances were observed in 52% of patients, and being obese was not observed as a risk factor for sleep problems. Next, we identified genes associated with sleep-associated traits among the POGZ regulatory targets, aiming to uncover the molecular pathways that, when disrupted by POGZ loss of function, contribute to the aetiology of sleep phenotypes in these patients. The intersect between POGZ targets and sleep-related genes was used in a pathway enrichment analysis. Relevant pathways among these overlapping genes are involved in the regulation of circadian rhythm, tau protein binding, ATPase activator activity. This study may represent the beginning for novel functional investigations on shared molecular mechanisms between sleep disturbances and rare developmental syndromes related to POGZ and its regulatory targets.

Sleep is associated with telomere shortening: A population-based longitudinal study.

As the chronological age increases, there is a decrease in the telomere length (TL). Associations between TL and age-related diseases have been described. Since the major pathophysiological factors related to inadequate sleep (including sleep complaints and sleep disorders) contribute to the exacerbation of inflammation and oxidative stress, an association of sleep and TL has been proposed. The aim of this study was to evaluate the association between sleep-related variables with TL in a longitudinal framework. We used data derived from the EPISONO cohort, which was followed over 8 years. All individuals answered sleep-related questionnaires, underwent a full-night polysomnography (PSG), and had their blood collected for DNA extraction. The TL was measured through a quantitative real time polymerase chain reaction. Age, sex, body mass index (BMI), smoking, physical activity status, and the 10 principal components (ancestry estimate) were considered covariables. Of the 1042 individuals in the EPISONO cohort, 68.3% agreed to participate in the follow-up study (n = 712). Baseline SpO2 (ß = 0.008, p = 0.007), medium SpO2 (ß = 0.013, p = 0.013), and total sleep time <90% (ß = -0.122, p = 0.012) had an effect on TL from the follow-up. The 8 year TL attrition was inversely associated with total sleep time, sleep efficiency, sleep architecture variables, wake after sleep onset, arousal index, oxygen-related variables baseline, and the presence of obstructive sleep apnea (OSA). We conclude that individuals with worse sleep quality, alterations in sleep architecture, and OSA had greater TL attrition over the 8 years. Using a longitudinal approach, these findings confirm previous cross-sectional evidence linking sleep with accelerated biological ageing.

Understanding Sexual Parasomnias: A Review of the Current Literature on Their Nature, Diagnosis, Impacts, and Management.

Sexual behavior during sleep, known as sexual parasomnias, has captured the interest of researchers and clinicians. These parasomnias involve various sexual activities that occur unconsciously during sleep. Although relatively rare, they can profoundly affect well-being and relationships and can carry legal consequences. Understanding their nature, prevalence, and causes is crucial for advancing knowledge in this field. This article revisits the topic of sexsomnia, presenting new data and discussing cases published from 2007 to 2023. By analyzing these cases, we aim to enhance recognition, diagnosis, and management of sexsomnia, reducing stigma and providing better support for affected individuals.

Erectile dysfunction and sleep related bruxism: An exploratory review of an improbable association.

The World Health Organization recognizes sexual health as not merely the absence of disease, but a state of physical, mental, and social well-being in relation to one's sexuality. Achieving sexual satisfaction is pivotal for many individuals, as it significantly contributes to their quality of life. Among various sexual disorders, erectile dysfunction (ED) is notably prevalent, affecting an estimated 10-20 million men in the United States alone. This condition impacts not just the person experiencing it but also significantly influences their intimate connections with partners. Although the causes of ED are multifactorial, recent research highlights a compelling association between sleep disorders, such as sleep deprivation, obstructive sleep apnea (OSA), and insomnia, and the incidence of ED. Furthermore, engaging in night work has been observed to exacerbate the risk of developing ED. One common sleep disorder, sleep related bruxism (SRB), despite its prevalence, has not generally been associated with ED. However, there is some interesting evidence hinting at a potential relationship, including a few studies reporting a high prevalence of ED in individuals with SRB. This review delves into the epidemiological, etiological, and mechanistic links between ED and SRB, aiming to uncover potential intersections between these two conditions. These insights could pave the way for innovative research avenues, possibly exploring treatments like vasodilation medication, that might concurrently address both ED and SRB.

Jet Lag and COVID-19: Extra Challenges for Athletes during the Tokyo 2020 Olympic Games.

Participating in the Tokyo 2020 Olympic Games demanded great efforts and had become extremely challenging compared with previous competitions. In addition to the physical performance of each modality, athletes had to deal with the coronavirus disease 2019 (COVID-19) pandemic and jet lag. The present manuscript pointed out negative factors that encompass the COVID-19 pandemic and the features brought out by the jet lag experienced by the athletes of this last Olympics. The influences of the pandemic and the procedures adopted to reduce transmission risk of the virus may have amplified the weight of jet lag for the athletes of Tokyo 2020 Olympic Games, even more considering the occurrence of this event in the far east of the globe.

Methods for REM Sleep Density Analysis: A Scoping Review.

Rapid eye movements (REM) sleep density is the parameter proposed to explain the variability in the amount of eye movements during REM sleep. Alterations in REM sleep density have been proposed as a screening criterion for individuals with depression and other mental health conditions, but its accuracy has not been properly evaluated. The lack of consensus and the variability of the methods used to score it reduces the external validity of the results, hindering an adequate analysis of its diagnostic accuracy and clinical applicability. This scoping review aimed to identify and quantify the methods used to score REM sleep density, describing their main characteristics. A literature search was conducted in PubMed, Scopus, PsycInfo, and Web of Science. Only studies with objective measures for REM sleep density analysis in individuals with depression were considered eligible. The final sample comprised 57 articles, covering 64 analyses of REM sleep density. The relative frequency methods were the predominant measurement parameter for analyzing REM sleep density across studies. The most frequently adopted REM estimation unit was the number of REM events followed by mini-epochs containing REM. The most common unit of measurement were frequency/time measures. The results demonstrate that there is no consistency in the methods used to calculate REM sleep density in the literature, and a high percentage of studies do not describe their methods in sufficient detail. The most used method was the number of REM episodes per minute of REM sleep, but its use is neither unanimous nor consensual. The methodological inconsistencies and omissions among studies limit the replicability, comparability, and clinical applicability of REM sleep density. Future guidelines should discuss and include a specific methodology for the scoring of REM sleep density, so it can be consensually implemented in clinical services and research.

Does poor sleep quality and excessive daytime sleepiness influence fear of falling among older adults? A cross-sectional study.

Poor sleep is a risk factor for falling among older adults. This study aimed to investigate whether poor sleep quality and excessive daytime sleepiness in older people was associated with fear of falling. Participants aged 60 years or older were interviewed, with those who did not have preserved cognitive skills being excluded. Data on age, gender, body mass index, alcohol consumption, mental status, depression, excessive daytime sleepiness, sleep quality, comorbidities and fear of falling were collected. Univariate and multivariate linear regression were conducted. The logistic regression assessed the association between daytime sleepiness and fear of falling. The odds of an older adult being afraid of falling was 3 times higher among those with excessive daytime sleepiness, in comparison to those with no excessive daytime sleepiness. The higher the daytime sleepiness, the greater the fear of falling. Health professionals should be aware of older patients' sleepiness because it can increase fear of falling and influence their treatment.

Knowledge of elementary and high school students about experimental animal research / Conocimiento de los alumnos de la primaria y la secundaria sobre investigación experimentalen animales / Conhecimento de alunos dos ensinos fundamental e médio sobre pesquisa experimental em animais

Abstract Experimental research with the use of animal models to represent a specific reality is a target of criticism by the population. This study analyzed the knowledge of elementary and high school students on experimental/animal research methods, official ethical guidelines/laws, and regulatory institutions. In total, 35 students answered an informative questionnaire with objective questions about the subject. Only 18 students (Group 1), attended a lecture on the subject. The questionnaire was reapplied to all 35 students. The analysis of the first questionnaire round showed rejection by 51.4% of the students toward the methods used in experimental research. Significant changes in answer patterns between the first and second evaluations were observed, with a decrease in the number of students who strongly disagree with the methods used in experimental research in Group 1 (38.8%) compared to Group 2 (88.2%). These data suggest that educational activities could increase the acceptance of experimental research by the community.

Resumen La investigación experimental en animales para representar una realidad específica es criticada por la población. Este estudio analizó el conocimiento de los alumnos de la primaria y la secundaria sobre los métodos de investigación experimental/animal, los lineamientos/leyes éticas oficiales e instituciones que reglamentan. Un cuestionario con preguntas objetivas sobre el tema fue respondido por 35 alumnos. Solo 18 alumnos (Grupo 1) asistieron a una conferencia sobre el tema. El cuestionario se aplicó nuevamente a 35 alumnos. El primer cuestionario mostró que el 51,4% de los alumnos rechazaban los métodos utilizados en la investigación experimental. Hubo cambios significativos en las respuestas entre la primera y la segunda evaluación, con menor número de alumnos que estaban totalmente en desacuerdo con los métodos de la investigación experimental en el Grupo 1 (38,8%) en comparación con el Grupo 2 (88,2%). Por tanto, las actividades educativas pueden incrementar la aceptación comunitaria de la investigación experimental.

Resumo A pesquisa experimental com uso de modelos animais para representar uma realidade específica é alvo de críticas por parte da população. Este estudo analisou o conhecimento de alunos do ensino fundamental e médio sobre métodos de pesquisa experimental/animal, diretrizes/leis éticas oficiais e instituições reguladoras. Ao todo, 35 alunos responderam a um questionário informativo com perguntas objetivas sobre o assunto. Apenas 18 alunos (Grupo 1) assistiram a uma palestra sobre o tema. O questionário foi aplicado novamente aos 35 alunos. A análise do primeiro questionário mostrou rejeição por 51,4% dos estudantes em relação aos métodos utilizados na pesquisa experimental. Observaram-se mudanças significativas nos padrões de resposta entre a primeira e a segunda avaliação, com diminuição do número de alunos que discordam totalmente dos métodos utilizados na pesquisa experimental no Grupo 1 (38,8%) em relação ao Grupo 2 (88,2%). Esses dados sugerem que atividades educativas podem aumentar a aceitação da pesquisa experimental pela comunidade.

COVID-19 meta-analyses: a scoping review and quality assessment / Metanálises sobre COVID-19: revisão de escopo e análise de qualidade

ABSTRACT Objective: To carry out a scoping review of the meta-analyses published regarding about coronavirus disease 2019 (COVID-19), evaluating their main characteristics, publication trends and methodological quality. Methods: A bibliometric search was performed in PubMed®, Scopus and Web of Science, focusing on meta-analyses about COVID-2019 disease. Bibliometric and descriptive data for the included articles were extracted and the methodological quality of the included meta-analyses was evaluated using A Measurement Tool to Assess Systematic Reviews. Results: A total of 348 meta-analyses were considered eligible. The first meta-analysis about COVID-19 disease was published on February 26, 2020, and the number of meta-analyses has grown rapidly since then. Most of them were published in infectious disease and virology journals. The greatest number come from China, followed by the United States, Italy and the United Kingdom. On average, these meta-analyses included 23 studies and 15,200 participants. Overall quality was remarkably low, and only 8.9% of them could be considered as of high confidence level. Conclusion: Although well-designed meta-analyses about COVID-19 disease have already been published, the majority are of low quality. Thus, all stakeholders playing a role in COVID-19 deseases, including policy makers, researchers, publishers and journals, should prioritize well-designed meta-analyses, performed only when the background information seem suitable, and discouraging those of low quality or that use suboptimal methods.

RESUMO Objetivo: Realizar uma revisão de escopo das metanálises publicadas sobre a doença pelo coronavírus 2019 (COVID-19), avaliando suas principais características, tendências de publicação e qualidade metodológica. Métodos: Uma busca bibliométrica foi realizada em PubMed®, Scopus e Web of Science, com foco em metanálises sobre a doença pelo COVID-19. Foram extraídos dados bibliométricos e descritivos dos artigos incluídos, e a qualidade metodológica foi avaliada usando a ferramenta A Measurement Tool to Assess Systematic Reviews. Resultados: Um total de 348 metanálises foram consideradas elegíveis. A primeira delas foi publicada em 26 de fevereiro de 2020, e, desde então, o número dessas publicações cresceu rapidamente. A maioria foi publicada em periódicos de infectologia e virologia. Grande parte é proveniente da China, seguida dos Estados Unidos, da Itália e do Reino Unido. Em média, as metanálises incluíram 23 estudos e 15.200 participantes. Em geral, a qualidade metodológica foi baixa, e apenas 8,9% delas podem ser consideradas de algum grau de confiabilidade Conclusão: Embora algumas metanálises bem conduzidas sobre a doença pelo COVID-19 tenham sido publicadas, a maioria apresenta baixa qualidade. Todos os envolvidos na abordagem da doença pelo COVID-19, incluindo formuladores de políticas, pesquisadores, editoras e periódicos, devem dar prioridade a metanálises de alta qualidade, realizadas apenas quando os dados são viáveis, e desencorajar as de baixa qualidade ou conduzidas com métodos subótimos.

Initial survey on the use of animals in scientific research and teaching reveals divided opinion of the Brazilian population / Investigação inicial sobre o uso de animais na pesquisa científica e no ensino revela opinião dividida da população brasileira

ABSTRACT Objective: Specific legislation regulating the use of animals in research in Brazil was introduced in 2008. However, the viewpoint of the Brazilian population regarding the use of animals in research and teaching activities remains largely unknown. Investigation of the public viewpoint on and understanding of the topic is required given the current shifts in the animal ethics scenario in Brazil. The objective of this study was to provide the first insight into the Brazilian population viewpoint on the use of animals in scientific research and teaching activities. Methods: Data collected in a survey involving 2,115 individuals aged 16 years or older and residing in 130 municipalities distributed across the five Brazilian macroregions (North, Northeast, South, Southeast, and Midwest) were analyzed. The margin of error for entire sample was set at 2%, with a 95% confidence interval. Results: This survey revealed that most Brazilian citizens are in favor of the use animals in research, particularly for medical purposes. Different views depending on the nature of research were identified. Approximately 80% of respondents were also in favor of frequent oversight of laboratories and animal facilities. Conclusion: Survey findings indicate that the opinion of the Brazilian population is divided when it comes to the use of animals in scientific research and teaching. Divided opinions expose a limited understanding of the importance of basic sciences and emphasizes the need for improved communication between the scientific community and the general population. Further strategies aimed to promote animal welfare are discussed.

RESUMO Objetivo: A legislação específica que regula o uso de animais em pesquisa no Brasil foi introduzida em 2008. No entanto, a opinião da população brasileira sobre o uso de animais em atividades de pesquisa e ensino ainda é desconhecida. No atual cenário brasileiro em mudança com relação à ética animal, é necessário avaliar as visões e o conhecimento da população sobre o assunto. O objetivo deste destudo foi realizar o primeiro levantamento da opinião da população brasileira sobre o uso de animais em atividades de ensino e pesquisa científica. Métodos: Analisamos os resultados de uma pesquisa com 2.115 indivíduos com 16 anos ou mais de 130 municípios das cinco macrorregiões brasileiras (Norte, Nordeste, Sul, Sudeste e Centro-Oeste). A margem de erro para toda a amostra foi de 2% dentro de um intervalo de confiança de 95%. Resultados: A pesquisa revelou que a maioria da população brasileira era favorável ao uso de animais em pesquisas, principalmente para fins médicos. Diferentes pontos de vista, dependendo da natureza da pesquisa, também foram identificados. Além disso, aproximadamente 80% dos entrevistados eram favoráveis ao monitoramento frequente de laboratórios e instalações de animais. Conclusão: A opinião da população brasileira está dividida com relação ao uso de animais em pesquisa e ensino científicos. Essa divisão expõe um entendimento limitado da importância das ciências básicas e destaca a necessidade de uma melhor comunicação entre a comunidade científica e a população em geral. Outras ações para alcançar as melhorias desejadas no bem-estar animal são discutidas.

Conhecimento sobre a bioética e a Lei 11. 794/2008 na graduação / The knowledge of bioethics and Law 11, 794/2008 in undergraduate courses / Conocimiento sobre bioética y la Ley 11. 794/2008 en el grado

Resumo O uso de animais para fins didáticos e de pesquisa requer cuidados específicos. Atualmente, vigora no Brasil a Lei 11.794/2008, que rege parâmetros legais de manejo e conduta neste caso. Esta lei foi acompanhada da instalação ou adequação de comissões de ética em instituições que utilizam animais para ensino e investigação, bem como da criação do Conselho Nacional de Controle de Experimentação Animal. No entanto, apesar dos avanços, especialmente na legislação, ainda não foi consolidada nenhuma grande mudança de comportamento de pesquisadores e alunos de graduação que manuseiam animais em laboratório. A divulgação de informações deixa a desejar, e a prática acaba por repercutir a carência de reflexão ética. Este artigo busca averiguar o atual conhecimento bioético de alunos de graduação e professores com o objetivo de estimular mudanças de conduta. Aprovado CEP-Unioeste CAAE 8563417.8.0000.0107

Abstract Used for education and research, laboratory animals require special care on their handling. Brazilian Law 11,794/2008 establishes the legal parameters for animal manipulation and welfare. It was accompanied by the obligatory installation of the Institutional Ethics Committees on the Use of Animals and the creation of the National Council for Animal Experimentation Control. There have been advances in the field of animal bioethics legislation. However, considering the behavior of those who handle the animals in laboratory environment, especially undergraduate students, these advances are insufficient: the information does not reach them and their attitudes remain in need of ethical reflection. This article seeks to investigate the current bioethical knowledge of undergraduate students and teachers in order to stimulate changes in conduct. Aprovado CEP-Unioeste CAAE: 78563417.8.0000.0107

Resumen El uso de animales con fines didácticos y de investigación requiere cuidados específicos. Actualmente, rige en Brasil la Ley 11.794/2008 que regula los parámetros legales de manejo y conducta en estos casos. Esta ley estuvo acompañada de la instalación o adecuación de comisiones de ética en instituciones que utilizan animales para enseñanza e investigación, así como de la creación del Consejo Nacional de Control de Experimentación Animal. No obstante, a pesar de los avances, especialmente en la legislación, aún no se ha consolidado ninguna gran transformación en el comportamiento de los investigadores y alumnos que manipulan animales en el laboratorio. La divulgación de informaciones es insuficiente, y la práctica acaba reflejando la falta de reflexión ética. Este artículo procura identificar el conocimiento bioético actual de los alumnos de grado y de los profesores, con el objetivo de estimular cambios en la conducta. Aprovado CEP-Unioeste CAAE: 78563417.8.0000.0107

Revisão sistemática sobre a epidemiologia das doenças cardiovasculares e respiratórias e suas associações com a poluição do ar em Vitória/ES / Epidemiology of cardiovascular and respiratory diseases and its associations with air pollution in Vitória, Brazil: a systematic review

Introdução: A poluição do ar é um importante fator ambiental relacionado a doenças crônicas não transmissíveis, como doenças cardiovasculares e respiratórias. Essa relação torna-se importante em cidades com alta atividade industrial, como Vitória/ES. Esta pesquisa utilizou três revisões sistemáticas (RSs) distintas para avaliar a epidemiologia das doenças cardiovasculares (RS1), a epidemiologia das doenças respiratórias (RS2) e a associação entre poluição do ar e doenças cardiorrespiratórias (RS3) na cidade de Vitória. Métodos: A busca bibliográfica considerou três bases de dados (PubMed, Scopus e LILACS). Foi estabelecida uma quantidade mínima de três estudos para a condução de metanálises. A heterogeneidade de cada análise foi calculada pelo índice I2. Resultados: A busca bibliográfica resultou em 1.205 registros, dos quais 27 foram incluídos ­ 17 na RS1, cinco na RS2 e cinco na RS3. Apenas dois desfechos puderam ser avaliados por meio de metanálises: prevalência de hipertensão e prevalência de asma em crianças. Estima-se uma prevalência de 34% (IC95%: 24-45) de hipertensão e de 12% (IC95%: 1-32) de asma em crianças. Os poluentes mais avaliados foram MP10 e SO2, para os quais não se pôde realizar metanálises. Todas as análises apresentaram baixo número de registros incluídos e alta heterogeneidade. Conclusão: Há poucos dados disponíveis sobre a associação de doenças cardiorrespiratórias e poluição ambiental em Vitória. A heterogeneidade, a diversidade de desfechos e a baixa quantidade de estudos impediram a condução de análises mais profundas e limitaram o poder de síntese e conclusão dessas revisões, impossibilitando uma avaliação adequada dos objetivos propostos. São necessários mais estudos epidemiológicos com amostras de grande porte e representativas para que se tenha resultados conclusivos sobre a relação entre poluição ambiental e doenças cardiorrespiratórias em Vitória (AU)

Introduction: Air pollution is an important environmental factor related to chronic non-transmittable diseases, including cardiovascular and respiratory diseases. This relationship is especially relevant in cities with high industrial activity, such as Vitória, Brazil. This research used three systematic reviews (SRs) to evaluate the epidemiology of cardiovascular diseases (SR1), the epidemiology of respiratory diseases (RS2), and the association between air pollution and cardiorespiratory diseases (RS3) in Vitória, Brazil. Methods: A bibliographic search was conducted in three independent databases (PubMed, Scopus and LILACS). A minimum amount of three studies was established to perform meta-analyses. Heterogeneity was calculated using the I2 index. Results: The bibliographic search retrieved 1205 references, of which 27 were included ­ 17 in SR1, five in SR2, and five in SR3. Only two outcomes could be evaluated through meta-analysis: prevalence of hypertension and prevalence of asthma in children. The most frequently evaluated pollutants were PM10 and SO2. The estimated prevalence of hypertension was 34% (CI95%: 24-45) and of asthma in children was 12% (CI95%: 1-32). All analyses had a limited number of included references and showed high heterogeneity. Conclusions: There are limited data available regarding the association of cardiorespiratory diseases and air pollution in Vitória, Brazil. The heterogeneity, the diversity of outcomes, and the limited number of studies hampered the performance of a more detailed analysis and limited the conclusions of these reviews, preventing a proper appraisal of the proposed aims. Further epidemiological studies with bigger and more representative sample sizes are needed to generate conclusive data about the relationship between air pollution and cardiorespiratory diseases in Vitória, Brazil (AU)

Comportamento materno em ciência básica: pesquisa translacional e aplicabilidade clínica / Maternal behavior in basic science: translational research and clinical applicability

Clinical aspects of the mother-infant relationship and related issues are well studied and very relevant to medical practice. Nevertheless, some approaches in this context cannot plausibly be investigated in humans due to their ethical implications and to the potential harm to the mother's and child's health. Studies on maternal behavior in animals have evident importance to some clinical fields, such as psychiatry and psychology, particularly considering topics, including mother-infant relationship, postpartum depression, cognitive and behavioral development of children, and associated issues. Hence, this theoretical article draws attention to the clinical applicability of studies about maternal behavior in animals to psychobiology, taking into account a translational perspective.

Os aspectos clínicos da relação materno-infantil e assuntos a eles associados são suficientemente bem estudados e conhecidos, e de grande importância à prática médica. Contudo, algumas abordagens de pesquisa, nesse contexto, não podem ser feitas em seres humanos de forma plausível, devido a implicações éticas e ao potencial dano à saúde, tanto da mãe quanto da criança. Os estudos sobre comportamento materno em animais apresentam importância evidente em áreas clínicas, como psiquiatria e psicologia, particularmente quando considerados temas como relação materno-infantil, depressão pós-parto, desenvolvimento cognitivo e comportamental infantil, entre outros. Portanto, este ensaio teórico chama atenção para a aplicabilidade clínica de estudos sobre comportamento materno feitos em animais de experimentação em psicobiologia, considerando uma perspectiva translacional.