scholarly journals Identification of Disease Risk DNA Variations is Shaping the Future of Precision Health

Genes ◽  
2019 ◽  
Vol 10 (6) ◽  
pp. 450
Author(s):  
Walid D. Fakhouri ◽  
Ariadne Letra
Keyword(s):  
Developmental Disorders ◽  
Disease Risk ◽  
Genetic Research ◽  
Therapeutic Strategies ◽  
Special Issue ◽  
Disease States ◽  
Genomic Architecture ◽  
Dna Variations ◽  
Precision Health ◽  
Over Time

In recent years, the knowledge generated by decoding the human genome has allowed groundbreaking genetic research to better understand genomic architecture and heritability in healthy and disease states. The vast amount of data generated over time and yet to be generated provides the basis for translational research towards the development of preventive and therapeutic strategies for many conditions. In this special issue, we highlight the discoveries of disease-associated and protective DNA variations in common human diseases and developmental disorders.

scholarly journals Introduction to the special issue: multiple jobholding in Europe

2021 ◽  
Vol 27 (2) ◽  
pp. 141-147
Author(s):  
Wieteke Conen ◽  
Karin Schulze Buschoff
Keyword(s):  
Labour Market ◽  
Social Protection ◽  
Special Issue ◽  
Clear Trend ◽  
Policy Makers ◽  
Quality Of Work ◽  
Labour Market Flexibility ◽  
Employment Situation ◽  
Over Time

In a number of European countries there is a clear trend towards increased multiple jobholding. As things stand, however, little is known about the structure and the potential consequences of this increase, notably in terms of quality of work and social protection. This special issue focuses on contemporary forms of multiple jobholding in Europe. Have the structure, nature and dynamics of multiple jobholding changed over time? What are the roles of labour market flexibility, technological change and work fragmentation in the development of multiple jobholding? And do multiple jobholders benefit from similar and adequate employment terms, conditions and protections compared with single jobholders, or are they worse off as a consequence of their (fragmented) employment situation? What implications do these findings have for unions, policy-makers and the regulation of work? The collection of articles in this special issue adds to the literature on emerging forms of employment in the digital age and challenges for social protection, also in light of the COVID-19 pandemic. This introduction initiates a discussion of central debates on multiple jobholding and presents a synopsis of the articles in this issue.

scholarly journals Proceedings of the GDR Vertige 2019 annual meeting devoted to endolymphatic hydrops

2021 ◽  
pp. 1-3
Author(s):  
Christian Chabbert ◽  
Anne Charpiot
Keyword(s):  
Annual Meeting ◽  
Research Group ◽  
Endolymphatic Hydrops ◽  
Clinical Manifestations ◽  
Vestibular Function ◽  
Therapeutic Strategies ◽  
Vestibular Disorders ◽  
Special Issue ◽  
Clinical Imaging ◽  
New Methods

The GDR Vertige is a federative research group gathering the different components of the French neuro-otology community. The annual meeting of the GDR Vertige is an opportunity for interactive exchanges between scientists, clinicians and industrialists, on basic issues related to vestibular function, as well as translational questions regarding the management of vestibular disorders. For its fifth edition, the annual meeting of the GDR Vertige, which took place in September 2019 in Marseille (France), was devoted to one of the most peculiar phenomena of neuro-otology: endolymphatic hydrops. For two days, international scientists and clinicians presented the most recent advances regarding the biophysical correlates of endolymphatic hydrops, the genetic and endocrine tableaux that favor its manifestation, new methods of clinical imaging, and current and upcoming therapeutic strategies to overcome the associated clinical manifestations. This special issue of the Journal of Vestibular Research aims at providing the proceedings of this meeting.

scholarly journals Central and peripheral arterial stiffness responses to uninterrupted prolonged sitting combined with a high-fat meal: a randomized controlled crossover trial

2021 ◽  
Author(s):  
Simon Fryer ◽  
Keeron Stone ◽  
Craig Paterson ◽  
Meghan Brown ◽  
James Faulkner ◽  
...  
Keyword(s):  
Arterial Stiffness ◽  
Cardiovascular Health ◽  
Pulse Wave ◽  
Disease Risk ◽  
Cardiovascular Disease Risk ◽  
High Fat ◽  
Low Fat ◽  
Peripheral Arterial ◽  
Fat Meal ◽  
Over Time

AbstractIndependently, prolonged uninterrupted sitting and the consumption of a meal high in saturated fats acutely disrupt normal cardiovascular function. Currently, the acute effects of these behaviors performed in combination on arterial stiffness, a marker of cardiovascular health, are unknown. This study sought to determine the effect of consuming a high-fat meal (Δ = 51 g fat) in conjunction with prolonged uninterrupted sitting (180 min) on measures of central and peripheral arterial stiffness. Using a randomized crossover design, 13 young healthy males consumed a high-fat (61 g) or low-fat (10 g) meal before 180 min of uninterrupted sitting. Carotid-femoral (cf) and femoral-ankle (fa) pulse wave velocity (PWV), aortic-femoral stiffness gradient (af-SG), superficial femoral PWV beta (β), and oscillometric pulse wave analysis outcomes were assessed pre and post sitting. cfPWV increased significantly more following the high-fat (mean difference [MD] = 0.59 m·s−1) meal than following the low-fat (MD = 0.2 m·s−1) meal, with no change in faPWV in either condition. The af-SG significantly decreased (worsened) (ηp2 = 0.569) over time in the high- and low-fat conditions (ratio = 0.1 and 0.1, respectively). Superficial femoral PWVβ significantly increased over time in the high- and low-fat conditions (ηp2 = 0.321; 0.8 and 0.4 m·s−1, respectively). Triglycerides increased over time in the high-fat trial only (ηp2 = 0.761). There were no significant changes in blood pressure. Consuming a high-fat meal prior to 180 min of uninterrupted sitting augments markers of cardiovascular disease risk more than consuming a low-fat meal prior to sitting.

scholarly journals The Genetic Research in Alzheimer Disease (GERALD) Initiative Finds rs9320913 as a Neural eQTL of lincRNA AL589740.1

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Lidia Lopez-Gutierrez ◽  
José María García-Alberca ◽  
Silvia Mendoza ◽  
Esther Gris ◽  
María Paz De la Guía ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Alzheimer Disease ◽  
Mental State ◽  
Fluid Intelligence ◽  
Educational Achievement ◽  
Disease Risk ◽  
Genetic Research ◽  
Gene Desert ◽  
Factors Affecting

Alzheimer’s disease is the most common cause of dementia worldwide, and longitudinal studies are crucial to find the factors affecting disease development. Here, we describe a novel initiative from southern Spain designed to contribute in the identification of the genetic component of the cognitive decline of Alzheimer’s disease patients. The germline variant rs9320913 is a C>A substitution mapping within a gene desert. Although it has been previously associated to a higher educational achievement and increased fluid intelligence, its role on Alzheimer’s disease risk and progression remains elusive. A total of 407 subjects were included in the study, comprising 153 Alzheimer disease patients and 254 healthy controls. We have explored the rs9320913 contribution to both Alzheimer disease risk and progression according to the Mini-Mental State Exams. We found that rs9320913 maps within a central nervous system lincRNA AL589740.1. eQTL results show that rs9320913 correlated with the brain-frontal cortex ( beta = − 0.15 , p value = 0.057) and brain-spinal cord (beta of -0.23, p value = 0.037). We did not find rs9320913 to be associated to AD risk, although AA patients seemed to exhibit a less pronounced Mini-Mental State Exam score decline.

scholarly journals The ‘Icarus effect’ of preventative health behaviors

2020 ◽  
Author(s):  
Simon Carrignon ◽  
R. Alexander Bentley ◽  
Matthew Silk ◽  
Nina H. Fefferman
Keyword(s):  
Public Health ◽  
Health Policy ◽  
Social Learning ◽  
Public Health Policy ◽  
Disease Risk ◽  
Critical Importance ◽  
Global Pandemic ◽  
Preventative Health ◽  
Individual Observation ◽  
Over Time

1AbstractOngoing efforts to combat the global pandemic of COVID-19 via public health policy have revealed the critical importance of understanding how individuals understand and react to infection risks. We here present a model to explore how both individual observation and social learning are likely to shape behavioral, and therefore epidemiological, dynamics over time. Efforts to delay and reduce infections can compromise their own success, especially in populations with age-structure in both disease risk and social learning —two critical features of the current COVID-19 crisis. Our results concur with anecdotal observations of age-based differences in reactions to public health recommendations. We show how shifting reliance on types of learning affect the course of an outbreak, and could therefore factor into policy-based interventions.

scholarly journals Endospores and other lysis-resistant bacteria comprise a widely shared core community within the human microbiota

2017 ◽  
Author(s):  
Sean M. Kearney ◽  
Sean M. Gibbons ◽  
Mathilde Poyet ◽  
Thomas Gurry ◽  
Kevin Bullock ◽  
...  
Keyword(s):  
Dietary Fatty Acids ◽  
Resistant Bacteria ◽  
Human Gut ◽  
Environmental Signals ◽  
Human Microbiota ◽  
Disease States ◽  
Culture Independent ◽  
Health And Disease ◽  
Over Time

AbstractEndospore-formers in the human microbiota are well adapted for host-to-host transmission, and an emerging consensus points to their role in determining health and disease states in the gut. The human gut, more than any other environment, encourages the maintenance of endospore formation, with recent culture-based work suggesting that over 50% of genera in the microbiome carry genes attributed to this trait. However, there has been limited work on the ecological role of endospores and other stress-resistant cellular states in the human gut. In fact, there is no data to indicate whether organisms with the genetic potential to form endospores actually form endosporesin situand how sporulation varies across individuals and over time. Here, we applied a culture-independent protocol to enrich for endospores and other stress-resistant cells in human feces to identify variation in these states across people and within an individual over time. We see that cells with resistant states are more likely than those without to be shared among multiple individuals, which suggests that these resistant states are particularly adapted for cross-host dissemination. Furthermore, we use untargeted fecal metabolomics in 24 individuals and within a person over time to show that these organisms respond to shared environmental signals, and in particular, dietary fatty acids, that likely mediate colonization of recently disturbed human guts.

scholarly journals Predicting COVID-19 Severity with a Specific Nucleocapsid Antibody plus Disease Risk Factor Score

mSphere ◽  
2021 ◽  
Vol 6 (2) ◽  
Author(s):  
Sanjana R. Sen ◽  
Emily C. Sanders ◽  
Kristin N. Gabriel ◽  
Brian M. Miller ◽  
Hariny M. Isoda ◽  
...  
Keyword(s):  
Risk Factor ◽  
Factor Score ◽  
Disease Risk ◽  
Severe Disease ◽  
Enzyme Linked Immunosorbent Assay ◽  
Disease Risk Factor ◽  
Disease States ◽  
Wide Range ◽  
Risk Factor Score ◽  
Prognostic Prediction

ABSTRACT Effective methods for predicting COVID-19 disease trajectories are urgently needed. Here, enzyme-linked immunosorbent assay (ELISA) and coronavirus antigen microarray (COVAM) analysis mapped antibody epitopes in the plasma of COVID-19 patients (n = 86) experiencing a wide range of disease states. The experiments identified antibodies to a 21-residue epitope from nucleocapsid (termed Ep9) associated with severe disease, including admission to the intensive care unit (ICU), requirement for ventilators, or death. Importantly, anti-Ep9 antibodies can be detected within 6 days post-symptom onset and sometimes within 1 day. Furthermore, anti-Ep9 antibodies correlate with various comorbidities and hallmarks of immune hyperactivity. We introduce a simple-to-calculate, disease risk factor score to quantitate each patient’s comorbidities and age. For patients with anti-Ep9 antibodies, scores above 3.0 predict more severe disease outcomes with a 13.42 likelihood ratio (96.7% specificity). The results lay the groundwork for a new type of COVID-19 prognostic to allow early identification and triage of high-risk patients. Such information could guide more effective therapeutic intervention. IMPORTANCE The COVID-19 pandemic has resulted in over two million deaths worldwide. Despite efforts to fight the virus, the disease continues to overwhelm hospitals with severely ill patients. Diagnosis of COVID-19 is readily accomplished through a multitude of reliable testing platforms; however, prognostic prediction remains elusive. To this end, we identified a short epitope from the SARS-CoV-2 nucleocapsid protein and also a disease risk factor score based upon comorbidities and age. The presence of antibodies specifically binding to this epitope plus a score cutoff can predict severe COVID-19 outcomes with 96.7% specificity.

scholarly journals Longitudinal Relationships Between Subjective Cognitive Decline and Objective Memory: Depressive Symptoms Mediate Between-Person Associations

2021 ◽  
pp. 1-14
Author(s):  
Nikki L. Hill ◽  
Sakshi Bhargava ◽  
Emily Bratlee-Whitaker ◽  
Jennifer R. Turner ◽  
Monique J. Brown ◽  
...  
Keyword(s):  
Older Adults ◽  
Depressive Symptoms ◽  
Cognitive Decline ◽  
Structural Equation ◽  
Disease Risk ◽  
Well Being ◽  
Equation Modeling ◽  
Subjective Cognitive Decline ◽  
Future Research ◽  
Over Time

Background: Subjective cognitive decline (SCD) may be an early indicator of cognitive impairment, but depressive symptoms can confound this relationship. Associations may be influenced by differences between individuals (i.e., between-persons) or how each individual changes in their experiences over time (i.e., within-persons). Objective: We examined depressive symptoms as a mediator of the between- and within-person associations of SCD and objective memory in older adults. Methods: Coordinated analyses were conducted across four datasets drawn from large longitudinal studies. Samples (range: n = 1,889 to n = 15,841) included participants 65 years of age or older with no dementia at baseline. We used multilevel structural equation modeling to examine the mediation of SCD and objective memory through depressive symptoms, as well as direct relationships among SCD, objective memory, and depressive symptoms. Results: Older adults who were more likely to report SCD had lower objective memory on average (between-person associations), and depressive symptoms partially mediated this relationship in three of four datasets. However, changes in depressive symptoms did not mediate the relationship between reports of SCD and declines in objective memory in three of four datasets (within-person associations). Conclusion: Individual differences in depressive symptoms, and not changes in an individual’s depressive symptoms over time, partially explain the link between SCD and objective memory. Older adults with SCD and depressive symptoms may be at greater risk for poor cognitive outcomes. Future research should explore how perceived changes in memory affect other aspects of psychological well-being, and how these relationships influence cognitive decline and Alzheimer’s disease risk.

Abstract MP34: Tai Chi Exercise is More Effective Than Brisk Walking in Reducing Cardiovascular Disease Risk Factors

Circulation ◽  
2018 ◽  
Vol 137 (suppl_1) ◽  
Author(s):  
Aileen W Chan ◽  
Doris Y Leung ◽  
SY Chair ◽  
Janet W Sit ◽  
Ruth E Taylor-Piliae
Keyword(s):  
Risk Factors ◽  
Cardiovascular Disease ◽  
Perceived Stress ◽  
Tai Chi ◽  
Disease Risk ◽  
Moderate Intensity ◽  
Brisk Walking ◽  
Cvd Risk Factors ◽  
Cvd Risk ◽  
Over Time

Background: Physical inactivity is one of the major modifiable lifestyle risk factors associated with cardiovascular disease (CVD). Tai Chi (TC) is safe and popular among older adults; yet direct comparisons between TC and brisk walking (BW) on reducing CVD risk factors are lacking. Methods: A total of 246 adults (mean age=64.4±9.8 years, 45.5% men) with hypertension and two other CVD risk factors (i.e., smoker, diabetic, dyslipidemia, or overweight) were randomly assigned to either TC (n=82), BW (n=82), or control (C, n=82) groups. The TC and BW groups had 150 minutes/week, moderate-intensity physical activity for three months; with home-based practice encouraged for another six months. The primary outcome was blood pressure (BP). Secondary outcomes were: fasting blood sugar (FBS), HbA1c, total cholesterol, triglycerides, high and low density lipoprotein, body mass index (BMI), waist circumference and perceived stress. Data were collected at baseline, post-intervention at 3-month, 6-month and 9-month follow-up assessments. Generalized estimating equations models compared changes in the outcomes over time between groups. Results: At baseline, average BP=141/81, smokers=11%, diabetics=58%, dyslipidemia=61%, average BMI=26; with no significant differences between groups. TC significantly lowered BP (systolic -13.33 mmHg; diastolic -6.45 mmHg), FBS (-0.72 mmol/L), HbA1c (-0.39%), and perceived stress (-3.22 score) at 9-months, compared to C group. Pairwise comparisons indicated significantly greater reductions in SBP (p<0.001), DBP (p=0.049), FBS (p=0.001), HbA1c (p=0.002), and perceived stress (p=0.027) in TC group, compared to BW group. No significant changes in other CVD risk indicators over time between groups were observed. Conclusion: TC was better than BW in reducing several CVD risk factors, and can be recommended as a viable exercise to build a healthier life free of CVD.

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