Screening for Lysosomal Acid Lipase Deficiency in a Lipid Clinic.

Background: Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive disease, with massive accumulation of cholesteryl esters and triglycerides in many organs, leading to hepatosplenomegaly, microvesicular steatosis, cirrhosis and premature death. Early recognition is crucial for timely enzyme replacement therapy.

Objectives: To screen for LAL-D in subjects with dyslipidemias and/or liver disease at an outpatient lipid clinic.

The relationship between cobalamin and folate below the cutoff values on anxiety and insomnia symptoms: Findings from the 8-year longitudinal EPISONO study.

Introduction: Cobalamin and folate are critical for central nervous system function through their roles in one‑carbon metabolism, which supports neurotransmitter synthesis and methylation reactions. Deficiencies in these vitamins have been linked to mood disorders and may influence sleep patterns and circadian rhythms.

Objective: To investigate whether cobalamin and folate levels below established cutoff values are associated with the incidence and/or predict the development and severity of insomnia and anxiety symptoms, as well as their relationship with diurnal preferences using a longitudinal approach.

Optimising preterm infant nutrition: valuing the potential of melatonin in breast milk.

The impact of synchronising the collection and supply of breast milk produced during the day and night on improving long-term health outcomes for preterm infants is discussed, focusing on breast milk as a valuable source of melatonin, an essential synchroniser of biological rhythms.

Hyperhomocysteinemia in Takayasu arteritis-genetically defined or burden of the proinflammatory state?

Takayasu arteritis (TAK) is associated with high plasma homocysteine (Hcy) and elevated Hcy predicts ischemic events. Thus, this study aims to compare the frequency of single-nucleotide polymorphisms (SNPs) of genes involved in Hcy metabolism between TAK and controls and analyze associations with Hcy levels, TAK features, and acute ischemic arterial events (AIAEs). A cross-sectional study was performed with 73 TAK patients and 71 controls.

Pleiotropic effects of APOE variants on a sleep-based adult epidemiological cohort.

Objectives: Phenome Wide Association study (PheWAS) approach was applied in a sleep-based adult epidemiological cohort to address pleiotropic effects of APOE variants in sleep patterns.

Methods: PheWAS analysis was performed on the São Paulo Epidemiologic Sleep Study (EPISONO), an adult epidemiological sample (1042 individuals) submitted to objective and subjective sleep evaluations, laboratory tests, clinical scales, anthropomorphic measurements and sociodemographic inquiries (1182 traits per individual). We determined APOE alleles using SNP-array and qPCR data.

Effects of mindfulness training on quality of life and well-being in older adults: a randomized controlled trial.

Objectives: To investigate the effects of the Mindfulness-Based Health Promotion (MBHP) program on quality of life (QOL) and well-being in older adults compared to an active control group.

Method: A randomized controlled trial nested within a cohort study was conducted. Participants were allocated to either the MBHP intervention or an active control group (ACG) receiving computer-based cognitive stimulation.

Genetic determinants of muscle health: A population-based study.

Background: Muscle mass is associated with physical and functional performance across adulthood. Its reduction plays a crucial role in the development of age-related conditions such as frailty and sarcopenia. Genetic variations potentially impact muscle health, particularly in an aged population.

Prevalence and incidence of periodic limb movements during sleep in São Paulo, Brazil: results from the EPISONO cohort.

Periodic limb movements in sleep (PLMS) are characterised by repetitive and involuntary movements of the limbs during sleep. When these movements exceed 15 events/h, they are considered clinically significant and can disrupt sleep quality and contribute to various health risks. The aim of this study was to investigate the prevalence, incidence, and remission of PLMS in a representative sample from São Paulo, Brazil.

Predisposing factors for symptoms of anxiety, depression, and insomnia in university students.

Objectives: to characterize the sociodemographic and psychological aspects of university students who sought psychiatric care at a Student Support Center of a Federal University and to analyze associations between mental health issues and predisposing factors.

Methods: a retrospective analysis of 103 medical records was conducted. The statistical analysis consisted of two steps: a descriptive analysis and a predictive analysis using the Logistic Regression Model.

Effects of Paradoxical Sleep Deprivation on MCH and Hypocretin Systems.

Melanin-concentrating hormone (MCH) and hypocretins (Hcrt) 1 and 2 are neuropeptides synthesized in the lateral hypothalamic area by neurons that are critical in the regulation of sleep and wakefulness. Their receptors are located in the same cerebral regions, including the frontal cortex and hippocampus. The present study aimed to assess whether 96 hours of paradoxical sleep deprivation alters the functioning of the MCH and hypocretin systems.

α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.

Background: α-mannosidosis is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme α-mannosidase, which is encoded by the MAN2B1 gene and inherited in an autosomal recessive manner. The impairment of affected individuals is multisystemic and very similar to the observed in some mucopolysaccharidosis (MPS) patients. The aim of this study was to search for α-mannosidosis cases in individuals with clinical suspicion of MPS without a confirmed diagnosis.

BDNF methylation associated with stress in women: Novel insights in epigenetics and inflammation.

The brain-derived neurotrophic factor (BDNF) gene plays an important role in modulating the stress-response axis and inflammation, which can be regulated by epigenetic mechanisms. BNDF methylation has been associated with stress-related psychiatric disorders such as depression, anxiety and post-traumatic stress. Previous studies have reported that stressful events are involved with long-lasting alterations in DNA methylation (DNAm) of the BNDF exon IV promoter, suggesting that glucocorticoids and inflammatory cytokines can regulate this process.

Artificial Intelligence, the Production of Scientific Texts, and the Implications for Sleep Science: Exploring Emerging Paradigms and Perspectives.

The emergence of artificial intelligence (AI) has revolutionized many fields, including natural language processing, and marks a potential paradigm shift in the way we evaluate knowledge. One significant innovation in this area is ChatGPT, a large language model based on the GPT-3.5 architecture created by OpenAI, with one of its main aims being to aid in general text writing, including scientific texts.

Associations between real-life light exposure patterns and sleep behaviour in adolescents.

One of the most striking changes in the regulation of sleep-wake behaviour during adolescence is circadian phase delay. Light exposure synchronises circadian rhythms, impacting sleep regulation, however, the influence of real-life light exposure on sleep variations remains less clear. We aimed to describe the sleep and light exposure patterns of high school students with comparable schedules and socio-economic backgrounds, and to evaluate whether there was any association between them, considering chronotype.

Cellular senescence and sleep in childhood and adolescence: A scoping review focusing on sleep-disordered breathing.

Background: Sleep is a fundamental and complex physiological process whose duration decreases and characteristics change with age. Around 50 % of children will experience sleep disturbances at some point in their early life. Sleep disturbances can result in a number of deleterious consequences, including alterations in the levels of cellular senescence (CS) markers.

Bimodal diurnal preference in undergraduate students is associated with negative health and sleep outcomes.

The bimodal preference is a fourth diurnal preference proposed by re-scoring the Morningness-Eveningness Questionnaire. The present work aimed to describe the prevalence of the bimodal preference in a sample of undergraduate students and to characterize the bimodal type in terms of their health and sleep-related outcomes. A web-based cross-sectional study conducted between September 2018 and March 2021 (convenience sampling method).

Homocysteine as a predictor of apnea-hypopnea index in obstructive sleep apnea: a longitudinal epidemiological study (EPISONO).

Background: Obstructive sleep apnea (OSA) affects nearly 1 billion people globally, and has established links with cardiovascular and neurocognitive complications. Although it has some limitations, the apnea-hypopnea index (AHI) is commonly used to gauge OSA severity and therapeutic response. Homocysteine (Hcy) metabolism, when impaired, can elicit cellular senescence mechanisms that may be shared with OSA.

An Overview of the Methods Used to Measure the Impact of Mindfulness-Based Interventions in Sleep-Related Outcomes.

 Systematic reviews and metanalyses have shown that mindfulness-based interventions can have positive effects on health, such as reducing anxiety, depression, and chronic pain. However, their effect on sleep-related outcomes is not yet well established. Sleep can be assessed subjectively (questionnaires, sleep logs, self-reporting) and/or objectively (actigraphy, polysomnography, biological markers), and outcomes may differ depending on which type of assessment is used.

Sleep patterns according to genetically determined ethnicity in the population of São Paulo, Brazil.

Sleep is a behavior expressed differently for each individual. However, studies have shown that some ethnic groups express common sleep patterns, which can be observed in different ethnic groups. Previous studies have shown the existence of sleep disparities in populations of different ethnicities.

The effects of social jetlag and sleep variability on sleepiness in a population-based study: The mediating role of sleep debt.

Sleepiness is a multicausal condition, and previous research has highlighted associations between this symptom and the circadian timing system, specifically concerning social jetlag and sleep variability. Recent inquiries have shown that the effects of social jetlag on sleepiness can be confounded with the consequences of sleep debt. In light of the current evidence, we aimed to assess the effects of social jetlag and sleep variability on sleepiness and the potential mediating role of sleep debt.

Social jetlag is associated with adverse cardiometabolic latent traits in early adolescence: an observational study.

Introduction: Adolescence is marked by physiological and social changes, such as puberty, increased responsibilities and earlier school start times. This often leads to insufficient sleep on school nights and the need to compensate for lost sleep on weekends, causing a misalignment between biological and social times, which has been termed social jetlag (SJL). SJL triggers stress responses and is associated with several negative health outcomes, including higher cardiometabolic risk in adults.

Vitamin B12 attenuates leukocyte inflammatory signature in COVID-19 methyl-dependent changes in epigenetic markings.

COVID-19 induces chromatin remodeling in host immune cells, and it had previously been shown that vitamin B12 downregulates some inflammatory genes methyl-dependent epigenetic mechanisms. In this work, whole blood cultures from moderate or severe COVID-19 patients were used to assess the potential of B12 as adjuvant drug. The vitamin normalized the expression of a panel of inflammatory genes still dysregulated in the leukocytes despite glucocorticoid therapy during hospitalization.

Mediation analysis of circadian preferences and other behavioral and sociodemographic factors associated with subjective well-being in undergraduate students.

Undergraduate students are usually subjected to a routine with constant pressure, stress, circadian misalignment, and sleep irregularity that impairs their subjective well-being. Recent evidence suggests that circadian preference is also a risk factor for impaired mental health and factors related to subjective well-being. This study aimed to identify the sociodemographic factors associated with subjective well-being and describe the mediating behavioral variables.