| 1. |
- Baudin, Clémence, et al.
(author)
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Saliva cortisol in relation to aircraft noise exposure : pooled-analysis results from seven European countries
- 2019
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In: Environmental Health. - : Springer Science and Business Media LLC. - 1476-069X. ; 18
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Journal article (peer-reviewed)abstract
- Background: Many studies have demonstrated adverse effects of exposure to aircraft noise on health. Possible biological pathways for these effects include hormonal disturbances. Few studies deal with aircraft noise effects on saliva cortisol in adults, and results are inconsistent.Objective: We aimed to assess the effects of aircraft noise exposure on saliva cortisol levels and its variation in people living near airports.Methods: This study focused on the 1300 residents included in the HYENA and DEBATS cross-sectional studies, with complete information on cortisol sampling. All the participants followed a similar procedure aiming to collect both a morning and an evening saliva cortisol samples. Socioeconomic and lifestyle information were obtained during a face-to-face interview. Outdoor aircraft noise exposure was estimated for each participant's home address. Associations between aircraft noise exposure and cortisol outcomes were investigated a priori for male and female separately, using linear regression models adjusted for relevant confounders. Different approaches were used to characterize cortisol levels, such as morning and evening cortisol concentrations and the absolute and relative variations between morning and evening levels.Results: Statistically significant increases of evening cortisol levels were shown in women with a 10-dB(A) increase in aircraft noise exposure in terms of LA(eq, 16h) (exp(beta) = 1.08; CI95% = 1.00-1.16), L-den (exp(beta) = 1.09; CI95% = 1.01-1.18), L-night (exp(beta) = 1.11; CI95% = 1.02-1.20). A statistically significant association was also found in women between a 10-dB(A) increase in terms of L-night and the absolute variation per hour (exp(beta) = 0.90; CI95% = 0.80-1.00). Statistically significant decreases in relative variation per hour were also evidenced in women, with stronger effects with the L-night (exp(beta) = 0.89; CI95% = 0.83-0.96) than with other noise indicators. The morning cortisol levels were unchanged whatever noise exposure indicator considered. There was no statistically significant association between aircraft noise exposure and cortisol outcomes in men.Conclusions: The results of the present study show statistically significant associations between aircraft noise exposure and evening cortisol levels and related flattening in the (absolute and relative) variations per hour in women. Further biological research is needed to deepen knowledge of the pathway between noise exposure and disturbed hormonal regulation, and specially the difference in effects between genders.
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| 2. |
- Abacan, MaryAnn, et al.
(author)
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The Global State of the Genetic Counseling Profession
- 2019
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In: European Journal of Human Genetics. - : NATURE PUBLISHING GROUP. - 1018-4813 .- 1476-5438. ; 27:2, s. 183-197
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Research review (peer-reviewed)abstract
- The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession. We estimate that in 2018 there are nearly 7000 genetic counselors with the profession established or developing in no less than 28 countries.
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| 3. |
- Aubert, Salome, et al.
(author)
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Global Matrix 3.0 Physical Activity Report Card Grades for Children and Youth: Results and Analysis From 49 Countries
- 2018
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In: Journal of Physical Activity and Health. - : HUMAN KINETICS PUBL INC. - 1543-3080 .- 1543-5474. ; 15, s. S251-S273
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Journal article (peer-reviewed)abstract
- Background: Accumulating sufficient moderate to vigorous physical activity is recognized as a key determinant of physical, physiological, developmental, mental, cognitive, and social health among children and youth (aged 5-17 y). The Global Matrix 3.0 of Report Card grades on physical activity was developed to achieve a better understanding of the global variation in child and youth physical activity and associated supports. Methods: Work groups from 49 countries followed harmonized procedures to develop their Report Cards by grading 10 common indicators using the best available data. The participating countries were divided into 3 categories using the United Nations human development index (HDI) classification (low or medium, high, and very high HDI). Results: A total of 490 grades, including 369 letter grades and 121 incomplete grades, were assigned by the 49 work groups. Overall, an average grade of "C-," "D+," and "C-" was obtained for the low and medium HDI countries, high HDI countries, and very high HDI countries, respectively. Conclusions: The present study provides rich new evidence showing that the situation regarding the physical activity of children and youth is a concern worldwide. Strategic public investments to implement effective interventions to increase physical activity opportunities are needed.
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| 4. |
- Chapuis, Julien, et al.
(author)
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Genome-wide, high-content siRNA screening identifies the Alzheimer’s genetic risk factor FERMT2 as a major modulator of APP metabolism
- 2017
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In: Acta Neuropathologica. - : Springer Science and Business Media LLC. - 0001-6322 .- 1432-0533. ; 133:6, s. 955-966
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Journal article (peer-reviewed)abstract
- Genome-wide association studies (GWASs) have identified 19 susceptibility loci for Alzheimer’s disease (AD). However, understanding how these genes are involved in the pathophysiology of AD is one of the main challenges of the “post-GWAS” era. At least 123 genes are located within the 19 susceptibility loci; hence, a conventional approach (studying the genes one by one) would not be time- and cost-effective. We therefore developed a genome-wide, high-content siRNA screening approach and used it to assess the functional impact of gene under-expression on APP metabolism. We found that 832 genes modulated APP metabolism. Eight of these genes were located within AD susceptibility loci. Only FERMT2 (a β3-integrin co-activator) was also significantly associated with a variation in cerebrospinal fluid Aβ peptide levels in 2886 AD cases. Lastly, we showed that the under-expression of FERMT2 increases Aβ peptide production by raising levels of mature APP at the cell surface and facilitating its recycling. Taken as a whole, our data suggest that FERMT2 modulates the AD risk by regulating APP metabolism and Aβ peptide production.
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| 5. |
- Gorski, Mathias, et al.
(author)
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1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
- 2017
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In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7
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Journal article (peer-reviewed)abstract
- HapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. To investigate the value of such a more complete variant catalog, we conducted a GWAS meta-analysis of kidney function based on the estimated glomerular filtration rate (eGFR) in 110,517 European ancestry participants using 1000 Genomes imputed data. We identified 10 novel loci with p-value < 5 × 10(-8) previously missed by HapMap-based GWAS. Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) are tagged by common SNPs unique to the 1000 Genomes reference panel. Using pathway analysis, we identified 39 significant (FDR < 0.05) genes and 127 significantly (FDR < 0.05) enriched gene sets, which were missed by our previous analyses. Among those, the 10 identified novel genes are part of pathways of kidney development, carbohydrate metabolism, cardiac septum development and glucose metabolism. These results highlight the utility of re-imputing from denser reference panels, until whole-genome sequencing becomes feasible in large samples.
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| 6. |
- Jones, Lesley, et al.
(author)
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Convergent genetic and expression data implicate immunity in Alzheimer's disease
- 2015
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In: Alzheimer's & Dementia. - : Wiley. - 1552-5260 .- 1552-5279. ; 11:6, s. 658-671
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Journal article (peer-reviewed)abstract
- Background: Late-onset Alzheimer's disease (AD) is heritable with 20 genes showing genome-wide association in the International Genomics of Alzheimer's Project (IGAP). To identify the biology underlying the disease, we extended these genetic data in a pathway analysis. Methods: The ALIGATOR and GSEA algorithms were used in the IGAP data to identify associated functional pathways and correlated gene expression networks in human brain. Results: ALIGATOR identified an excess of curated biological pathways showing enrichment of association. Enriched areas of biology included the immune response (P = 3.27 X 10(-12) after multiple testing correction for pathways), regulation of endocytosis (P = 1.31 X 10(-11)), cholesterol transport (P = 2.96 X 10(-9)), and proteasome-ubiquitin activity (P = 1.34 X 10(-6)). Correlated gene expression analysis identified four significant network modules, all related to the immune response (corrected P = .002-.05). Conclusions: The immime response, regulation of endocytosis, cholesterol transport, and protein ubiquitination represent prime targets for AD therapeutics.
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| 7. |
- O'Malley, Grace, et al.
(author)
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Physical Activity and Physical Fitness in Pediatric Obesity : What are the First Steps for Clinicians? Expert Conclusion from the 2016 ECOG Workshop
- 2017
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In: International Journal of Exercise Science. - 1939-795X. ; 10:4, s. 487-496
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Journal article (other academic/artistic)abstract
- One of the main aims of the European Childhood Obesity Group (ECOG) is to assist healthcare workers in delivering evidence-based assessment and treatment of childhood obesity. Every year the ECOG Congress includes working groups whose objective is to highlight concerns faced by clinicians and practitioners who work in the field of pediatric obesity. This year, a working group was devoted to the assessment of physical activity and physical fitness in this population. The present commentary attempts to summarize the main themes identified by practitioners during these workshops in order to provide the basic and essential first steps required to address physical activity and fitness in children with obesity.
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