Exercise Testing in Elite Athletes.

Exercise testing is frequently incorporated into management of patients with cardiovascular and/or pulmonary disease. A lifelong commitment to exercise promotes cardiac remodeling, leading to changes in structure and function of the atria and ventricles, commonly referred to as the "athletic heart." Stress testing is also incorporated into the management of athletes for a variety of reasons, such as identifying the cause of exertional symptoms, determining level of fitness and training zones, or assessing for acquired cardiomyopathies.

Objective Measures for Assessing Readiness to Return to Sport After Shoulder Instability Procedures Are Not Standardized: A Systematic Review.

Purpose: To report objective measures utilized to assess readiness to return to sport after shoulder instability procedures.

Methods: Our systematic review included studies if they assessed active individuals after a shoulder instability procedure with at least 1 patient-reported outcome or physical performance measure. We excluded studies of atraumatic instability, studies only reporting imaging, or studies of biomechanics.

Metadata recommendations for light logging and dosimetry datasets.

Background: Light exposure significantly impacts human health, regulating our circadian clock, sleep-wake cycle and other physiological processes. With the emergence of wearable light loggers and dosimeters, research on real-world light exposure effects is growing. There is a critical need to standardize data collection and documentation across studies.

Open-Source Python Module for the Analysis of Personalized Light Exposure Data from Wearable Light Loggers and Dosimeters.

Light exposure fundamentally influences human physiology and behavior, with light being the most important of the circadian system. Throughout the day, people are exposed to various scenes differing in light level, spectral composition and spatio-temporal properties. Personalized light exposure can be measured through wearable light loggers and dosimeters, including wrist-worn actimeters containing light sensors, yielding time series of an individual's light exposure.

Acute effects of light during daytime on central aspects of attention and affect: A systematic review.

Light regulates both image- and various non-image forming responses in humans, including acute effects on attention and affect. To advance the understanding of light's immediate effects, this systematic review describes the acute effects of monochromatic/narrow bandwidth and polychromatic white light during daytime on distinct aspects of attention (alertness, sustained attention, working memory, attentional control and flexibility), and measures of affect (self-report measures, performance-based tests, psychophysiological measures) in healthy, adult human subjects. Original, peer-reviewed (quasi-) experimental studies published between 2000 and May 2024 were included according to predefined inclusion and exclusion criteria.

Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor.

Background: Chronic recurrent angioedema without wheals (CRA) with normal C1 inhibitor (C1-INH) that is unresponsive to antihistamines may involve patients with recurrent angioedema of unknown cause (ie, so-called non-histaminergic idiopathic angioedema) as well as patients with hereditary angioedema with normal C1-INH (HAEnCI) when HAEnCI occurs in only one family member.

Objective: To identify patients with one of type of HAEnCI in a group of patients with CRA with normal C1-INH that was unresponsive to antihistamines.

Methods: A total of 132 patients with CRA and normal C1-INH that was unresponsive to antihistamines underwent mutational and clinical analysis.

Mutant plasminogen in hereditary angioedema is bypassing FXII/kallikrein to generate bradykinin.

Hereditary angioedema (HAE) is characterized by recurrent localized edema in various organs, which can be potentially fatal. There are different types of hereditary angioedema, which include genetic deficiency of C1 inhibitor (C1-INH) and hereditary angioedema with normal C1-INH (HAEnCI). In HAEnCI patients mutations have been identified in the , , , , , and genes.

From FAIR to FAIRS: Data security by design for the global burden of animal diseases.

Solving complex global problems involving data and data analysis can require data from both the public and private sectors. The sharing of data has traditionally been restricted to open data. To facilitate the use of both open and private data, a new data-sharing framework has been constructed as an extension to the popular Findable-Accessible-Interoperable-Reusable (FAIR) framework.

Phenotypic divergence in sleep and circadian cycles linked by affective state and environmental risk related to psychosis.

Study Objectives: Environmental cues influence circadian rhythm timing and neurochemicals involved in the regulation of affective behavior. How this interplay makes them a probable nonspecific risk factor for psychosis is unclear. We aimed to identify the relationship between environmental risk for psychosis and circadian timing phenotypes sampled from the general population.

Individual differences in slow wave sleep architecture relate to variation in white matter microstructure across adulthood.

Sleep plays a key role in supporting brain function and resilience to brain decline. It is well known that sleep changes substantially with aging and that aging is associated with deterioration of brain structure. In this study, we sought to characterize the relationship between slow wave slope (SWslope)-a key marker of sleep architecture and an indirect proxy of sleep quality-and microstructure of white matter pathways in healthy adults with no sleep complaints.

Inheritance Pattern of Hereditary Angioedema Indicates Mutation-Dependent Selective Effects During Early Embryonic Development.

Background: Hereditary angioedema (HAE) may be caused by a genetic deficiency of functional C1 inhibitor (C1-INH) or linked with mutations in the F12, PLG, and other genes in combination with normal C1-INH (HAEnCI). Although the types of hereditary angioedema due to deficiency of functional C1 inhibitor and HAEnCI are autosomal dominant inherited, there is the impression that in the types of HAEnCI more females carry disease-linked mutations.

Objective: The aim of this study was to analyze the passing on of the HAE-specific mutations to the next generations in families with various types of HAE.

Extracting Circadian and Sleep Parameters from Longitudinal Data in Schizophrenia for the Design of Pragmatic Light Interventions.

Sleep and circadian rhythm dysfunction is prevalent in schizophrenia, is associated with distress and poorer clinical status, yet remains an under-recognized therapeutic target. The development of new therapies requires the identification of the primary drivers of these abnormalities. Understanding of the regulation of sleep-wake timing is now sufficiently advanced for mathematical model-based analyses to identify the relative contribution of endogenous circadian processes, behavioral or environmental influences on sleep-wake disturbance and guide the development of personalized treatments.

Do environmental risk factors for the development of psychosis distribute differently across dimensionally assessed psychotic experiences?

Psychotic experiences (PE) are associated with poorer functioning, higher distress and the onset of serious mental illness. Environmental exposures (e.g.

Revisiting nocturnal heart rate and heart rate variability in insomnia: A polysomnography-based comparison of young self-reported good and poor sleepers.

Primary insomnia is often considered a disorder of 24-hr hyperarousal. Numerous attempts have been made to investigate nocturnal heart rate (HR) and its variability (HRV) as potential pathophysiological hallmarks of altered arousal levels in insomnia, with mixed results. We have aimed to overcome some of the pitfalls of previous studies by using a young, medication-free, age- and gender-matched population consisting of 43 students aged 18-30 years half with a subthreshold insomnia complaint.

Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation.

Background: Hereditary angioedema (HAE) is a potentially fatal disorder resulting in recurrent attacks of severe swelling. It may be associated with a genetic deficiency of functional C1 inhibitor or with normal C1 inhibitor (HAEnCI). In families with HAEnCI, HAE-linked mutations in the F12, PLG, KNG1, ANGPT1, or MYOF genes have been identified.

The Role of Daylight for Humans: Gaps in Current Knowledge.

Daylight stems solely from direct, scattered and reflected sunlight, and undergoes dynamic changes in irradiance and spectral power composition due to latitude, time of day, time of year and the nature of the physical environment (reflections, buildings and vegetation). Humans and their ancestors evolved under these natural day/night cycles over millions of years. Electric light, a relatively recent invention, interacts and competes with the natural light-dark cycle to impact human biology.

Sleep-related memory consolidation in the psychosis spectrum phenotype.

Sleep and memory processing impairments range from mild to severe in the psychosis spectrum. Relationships between memory processing and sleep characteristics have been described for schizophrenia, including unaffected first-degree relatives, but they are less clear across other high-risk groups within the psychosis spectrum. In this study, we investigated high-risk individuals with accumulated risk-factors for psychosis and subthreshold symptoms.

INTERGROWTH-21st Project international INTER-NDA standards for child development at 2 years of age: an international prospective population-based study.

Objectives: To describe the construction of the international INTERGROWTH-21st Neurodevelopment Assessment (INTER-NDA) standards for child development at 2 years by reporting the cognitive, language, motor and behaviour outcomes in optimally healthy and nourished children in the INTERGROWTH-21st Project.

Design: Population-based cohort study, the INTERGROWTH-21st Project.

Setting: Brazil, India, Italy, Kenya and the UK.

Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene.

Background: Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A > G (p.Lys330Glu; p.

Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes.

Background: Hereditary angioedema (HAE) is a group of genetic diseases characterized by recurrent, painful and potentially lethal tissue swelling. The most common form results from mutations in the SERPING1 gene, leading to reduced function of complement 1 inhibitor (C1-INH). Rarer forms with normal C1-INH may arise from mutations in the coagulation factor F12 gene, but mostly the genetic background is unknown.

Deep clinical and biological phenotyping of the preterm birth and small for gestational age syndromes: The INTERBIO-21 Newborn Case-Control Study protocol.

INTERBIO-21 is Phase II of the INTERGROWTH-21 Project, the population-based, research initiative involving nearly 70,000 mothers and babies worldwide coordinated by Oxford University and performed by a multidisciplinary network of more than 400 healthcare professionals and scientists from 35 institutions in 21 countries worldwide. Phase I, conducted 2008-2015, consisted of nine complementary studies designed to describe optimal human growth and neurodevelopment, based conceptually on the WHO prescriptive approach. The studies generated a set of international standards for monitoring growth and neurodevelopment, which complement the existing WHO Child Growth Standards.

Impact of Diabetic Retinopathy on Sleep, Mood, and Quality of Life.

Purpose: Diabetic retinopathy (DR) is associated with retinal neuronal and vascular damage. DR has previously been shown to affect the photosensitive retinal ganglion cells (pRGCs). PRGCs are essential for the entrainment of circadian rhythms; thus, DR progression could lead to worsening sleep quality and mood.