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  1. Article ; Online: Vitamin Nature: How Coronavirus Disease 2019 Has Highlighted Factors Contributing to the Frequency of Nature Visits in Flanders, Belgium.

    Lenaerts, Aline / Heyman, Sofie / De Decker, Annelies / Lauwers, Laura / Sterckx, Ann / Remmen, Roy / Bastiaens, Hilde / Keune, Hans

    Frontiers in public health

    2021  Volume 9, Page(s) 646568

    Abstract: Visiting nature is positively associated with physical and mental well-being. The role of nature became more pronounced during the coronavirus outbreak in the spring of 2020. Countries all over the world implemented confinement measures to reduce the ... ...

    Abstract Visiting nature is positively associated with physical and mental well-being. The role of nature became more pronounced during the coronavirus outbreak in the spring of 2020. Countries all over the world implemented confinement measures to reduce the transmission of the virus. These included but were not limited to the cancelation of public events, schools, and non-essential businesses and the prohibition of non-essential travels. However, going outside to exercise was recommended by the Belgian government. During this period, we conducted an online survey to determine if people visit nature more frequently than before and to identify the factors that contribute to this. The results are based on data from 11,352 participants in Flanders, Belgium. With the use of a bivariate and multiple regression analysis, results indicate that people visit nature more frequently than before and that nature helped to maintain social relationships during the coronavirus period. Gardens were reported to be the most popular place, followed by parks. More than half of the people experienced nature in a more positive way, and the belief that nature visits are important for general health increased. In addition, we found a positive association between nature visits and home satisfaction, as well as a positive association with subjective mental and physical health. Lastly, we identified several demographic factors contributing to the frequency of nature visits such as age, gender, and socioeconomic status. Our findings indicate the importance of nature visits for general well-being and highlight the need for nearby green infrastructure.
    Language English
    Publishing date 2021-05-11
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2711781-9
    ISSN 2296-2565 ; 2296-2565
    ISSN (online) 2296-2565
    ISSN 2296-2565
    DOI 10.3389/fpubh.2021.646568
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Vitamin Nature

    Aline Lenaerts / Sofie Heyman / Annelies De Decker / Laura Lauwers / Ann Sterckx / Roy Remmen / Hilde Bastiaens / Hans Keune

    Frontiers in Public Health, Vol

    How Coronavirus Disease 2019 Has Highlighted Factors Contributing to the Frequency of Nature Visits in Flanders, Belgium

    2021  Volume 9

    Abstract: Visiting nature is positively associated with physical and mental well-being. The role of nature became more pronounced during the coronavirus outbreak in the spring of 2020. Countries all over the world implemented confinement measures to reduce the ... ...

    Abstract Visiting nature is positively associated with physical and mental well-being. The role of nature became more pronounced during the coronavirus outbreak in the spring of 2020. Countries all over the world implemented confinement measures to reduce the transmission of the virus. These included but were not limited to the cancelation of public events, schools, and non-essential businesses and the prohibition of non-essential travels. However, going outside to exercise was recommended by the Belgian government. During this period, we conducted an online survey to determine if people visit nature more frequently than before and to identify the factors that contribute to this. The results are based on data from 11,352 participants in Flanders, Belgium. With the use of a bivariate and multiple regression analysis, results indicate that people visit nature more frequently than before and that nature helped to maintain social relationships during the coronavirus period. Gardens were reported to be the most popular place, followed by parks. More than half of the people experienced nature in a more positive way, and the belief that nature visits are important for general health increased. In addition, we found a positive association between nature visits and home satisfaction, as well as a positive association with subjective mental and physical health. Lastly, we identified several demographic factors contributing to the frequency of nature visits such as age, gender, and socioeconomic status. Our findings indicate the importance of nature visits for general well-being and highlight the need for nearby green infrastructure.
    Keywords COVID-19 ; confinement measures ; green space ; nature ; ecosystem service ; citizen perceptions ; Public aspects of medicine ; RA1-1270
    Subject code 710
    Language English
    Publishing date 2021-05-01T00:00:00Z
    Publisher Frontiers Media S.A.
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.

    Oussalah, Abderrahim / Jeannesson-Thivisol, Elise / Chéry, Céline / Perrin, Pascal / Rouyer, Pierre / Josse, Thomas / Cano, Aline / Barth, Magalie / Fouilhoux, Alain / Mention, Karine / Labarthe, François / Arnoux, Jean-Baptiste / Maillot, François / Lenaerts, Catherine / Dumesnil, Cécile / Wagner, Kathy / Terral, Daniel / Broué, Pierre / De Parscau, Loic /
    Gay, Claire / Kuster, Alice / Bédu, Antoine / Besson, Gérard / Lamireau, Delphine / Odent, Sylvie / Masurel, Alice / Rodriguez-Guéant, Rosa-Maria / Feillet, François / Guéant, Jean-Louis / Namour, Fares

    EBioMedicine

    2020  Volume 51, Page(s) 102623

    Abstract: Background: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Europe. The reasons underlying the high prevalence of heterozygous carriers are not clearly understood. We aimed to look for pathogenic PAH variant enrichment ... ...

    Abstract Background: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Europe. The reasons underlying the high prevalence of heterozygous carriers are not clearly understood. We aimed to look for pathogenic PAH variant enrichment according to geographical areas and patients' ethnicity using a multiethnic nationwide cohort of patients with PKU in France. We subsequently appraised the population differentiation, balancing selection and the molecular evolutionary history of the PAH locus.
    Methods: The French nationwide PKU study included patients who have been referred at the national level to the University Hospital of Nancy, and for whom a molecular diagnosis of phenylketonuria was made by Sanger sequencing. We performed enrichment analyses by comparing alternative allele frequencies using Fisher's exact test with Bonferroni adjustment. We estimated the amount of genetic differentiation among populations using Wright's fixation index (Fst). To estimate the molecular evolutionary history of the PAH gene, we performed phylogenetic and evolutionary analyses using whole-genome and exome-sequencing data from healthy individuals and non-PKU patients, respectively. Finally, we used exome-wide association study to decipher potential genetic loci associated with population divergence on PAH.
    Findings: The study included 696 patients and revealed 132 pathogenic PAH variants. Three geographical areas showed significant enrichment for a pathogenic PAH variant: North of France (p.Arg243Leu), North-West of France (p.Leu348Val), and Mediterranean coast (p.Ala403Val). One PAH variant (p.Glu280Gln) was significantly enriched among North-Africans (OR = 23·23; 95% CI: 9·75-55·38). PAH variants exhibiting a strong genetic differentiation were significantly enriched in the 'Biopterin_H' domain (OR = 6·45; 95% CI: 1·99-20·84), suggesting a balancing selection pressure on the biopterin function of PAH. Phylogenetic and timetree analyses were consistent with population differentiation events on European-, African-, and Asian-ancestry populations. The five PAH variants most strongly associated with a high selection pressure were phylogenetically close and were located within the biopterin domain coding region of PAH or in its vicinity. Among the non-PAH loci potentially associated with population divergence, two reached exome-wide significance: SSPO (SCO-spondin) and DBH (dopamine beta-hydroxylase), involved in neuroprotection and metabolic adaptation, respectively.
    Interpretation: Our data provide evidence on the combination of evolutionary and adaptive events in populations with distinct ancestries, which may explain the overdominance of some genetic variants on PAH.
    Funding: French National Institute of Health and Medical Research (INSERM) UMR_S 1256.
    MeSH term(s) Biological Evolution ; Ethnicity/genetics ; Exome/genetics ; Female ; France ; Gene Frequency/genetics ; Genetic Association Studies ; Genetic Loci ; Genetics, Population ; Geography ; Haplotypes/genetics ; Humans ; Male ; Phenylalanine Hydroxylase/genetics ; Phenylketonurias/genetics ; Phylogeny ; Principal Component Analysis
    Chemical Substances Phenylalanine Hydroxylase (EC 1.14.16.1)
    Language English
    Publishing date 2020-01-07
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2851331-9
    ISSN 2352-3964
    ISSN (online) 2352-3964
    DOI 10.1016/j.ebiom.2019.102623
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria

    Abderrahim Oussalah / Elise Jeannesson-Thivisol / Céline Chéry / Pascal Perrin / Pierre Rouyer / Thomas Josse / Aline Cano / Magalie Barth / Alain Fouilhoux / Karine Mention / François Labarthe / Jean-Baptiste Arnoux / François Maillot / Catherine Lenaerts / Cécile Dumesnil / Kathy Wagner / Daniel Terral / Pierre Broué / Loic De Parscau /
    Claire Gay / Alice Kuster / Antoine Bédu / Gérard Besson / Delphine Lamireau / Sylvie Odent / Alice Masurel / Rosa-Maria Rodriguez-Guéant / François Feillet / Jean-Louis Guéant / Fares Namour

    EBioMedicine, Vol 51, Iss , Pp - (2020)

    Results from a multiethnic study

    2020  

    Abstract: Background: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Europe. The reasons underlying the high prevalence of heterozygous carriers are not clearly understood. We aimed to look for pathogenic PAH variant enrichment ... ...

    Abstract Background: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Europe. The reasons underlying the high prevalence of heterozygous carriers are not clearly understood. We aimed to look for pathogenic PAH variant enrichment according to geographical areas and patients’ ethnicity using a multiethnic nationwide cohort of patients with PKU in France. We subsequently appraised the population differentiation, balancing selection and the molecular evolutionary history of the PAH locus. Methods: The French nationwide PKU study included patients who have been referred at the national level to the University Hospital of Nancy, and for whom a molecular diagnosis of phenylketonuria was made by Sanger sequencing. We performed enrichment analyses by comparing alternative allele frequencies using Fisher's exact test with Bonferroni adjustment. We estimated the amount of genetic differentiation among populations using Wright's fixation index (Fst). To estimate the molecular evolutionary history of the PAH gene, we performed phylogenetic and evolutionary analyses using whole-genome and exome-sequencing data from healthy individuals and non-PKU patients, respectively. Finally, we used exome-wide association study to decipher potential genetic loci associated with population divergence on PAH. Findings: The study included 696 patients and revealed 132 pathogenic PAH variants. Three geographical areas showed significant enrichment for a pathogenic PAH variant: North of France (p.Arg243Leu), North-West of France (p.Leu348Val), and Mediterranean coast (p.Ala403Val). One PAH variant (p.Glu280Gln) was significantly enriched among North-Africans (OR = 23·23; 95% CI: 9·75–55·38). PAH variants exhibiting a strong genetic differentiation were significantly enriched in the ‘Biopterin_H’ domain (OR = 6·45; 95% CI: 1·99–20·84), suggesting a balancing selection pressure on the biopterin function of PAH. Phylogenetic and timetree analyses were consistent with population differentiation events on European-, ...
    Keywords Medicine ; R ; Medicine (General) ; R5-920
    Language English
    Publishing date 2020-01-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

    Jeannesson-Thivisol, Elise / Feillet, François / Chéry, Céline / Perrin, Pascal / Battaglia-Hsu, Shyue-Fang / Herbeth, Bernard / Cano, Aline / Barth, Magalie / Fouilhoux, Alain / Mention, Karine / Labarthe, François / Arnoux, Jean-Baptiste / Maillot, François / Lenaerts, Catherine / Dumesnil, Cécile / Wagner, Kathy / Terral, Daniel / Broué, Pierre / de Parscau, Loïc /
    Gay, Claire / Kuster, Alice / Bédu, Antoine / Besson, Gérard / Lamireau, Delphine / Odent, Sylvie / Masurel, Alice / Guéant, Jean-Louis / Namour, Fares

    Orphanet journal of rare diseases

    2015  Volume 10, Page(s) 158

    Abstract: Background: Mutations in Phenylalanine Hydroxylase (PAH) gene cause phenylketonuria. Sapropterin (BH4), the enzyme cofactor, is an important therapeutical strategy in phenylketonuria. However, PAH is a highly polymorphic gene and it is difficult to ... ...

    Abstract Background: Mutations in Phenylalanine Hydroxylase (PAH) gene cause phenylketonuria. Sapropterin (BH4), the enzyme cofactor, is an important therapeutical strategy in phenylketonuria. However, PAH is a highly polymorphic gene and it is difficult to identify BH4-responsive genotypes. We seek here to improve prediction of BH4-responsiveness through comparison of genotypes, BH4-loading test, predictions of responsiveness according to the literature and types and locations of mutations.
    Methods: A total of 364 French patients among which, 9 % had mild hyperphenylalaninemia, 17.7 % mild phenylketonuria and 73.1 % classical phenylketonuria, benefited from a 24-hour BH4-loading test and had the PAH gene sequenced and analyzed by Multiplex Ligation Probe Amplification.
    Results: Overall, 31.6 % of patients were BH4-responsive. The number of different mutations found was 127, including 26 new mutations. The mutations c.434A > T, c.500A > T, c.529G > C, c.1045 T > G and c.1196 T > C were newly classified as being BH4-responsive. We identified 261 genotypes, among which 46 were newly recognized as being BH4-responsive. Even though patients carry 2 responsive alleles, BH4-responsiveness cannot be predicted with certainty unless they present mild hyperphenylalaninemia. BH4-responsiveness cannot be predicted in patients carrying one responsive mutation only. In general, the milder the phenotype is, the stronger the BH4-response is. Almost exclusively missense mutations, particularly in exons 12, 11 and 8, are associated with BH4-responsiveness and any other type of mutation predicts a negative response.
    Conclusions: This study is the first of its kind, in a French population, to identify the phenotype associated with several combinations of PAH mutations. As others, it highlights the necessity of performing simultaneously BH4 loading test and molecular analysis in monitoring phenylketonuria patients.
    MeSH term(s) Biopterins/analogs & derivatives ; Biopterins/therapeutic use ; Cohort Studies ; Female ; France/epidemiology ; Genetic Association Studies/methods ; Genotype ; Humans ; Male ; Phenotype ; Phenylketonurias/drug therapy ; Phenylketonurias/epidemiology ; Phenylketonurias/genetics ; Treatment Outcome
    Chemical Substances Biopterins ; sapropterin (EGX657432I)
    Language English
    Publishing date 2015-12-15
    Publishing country England
    Document type Journal Article ; Multicenter Study
    ZDB-ID 2225857-7
    ISSN 1750-1172 ; 1750-1172
    ISSN (online) 1750-1172
    ISSN 1750-1172
    DOI 10.1186/s13023-015-0375-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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