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  1. Artikel ; Online: Role of Callous and Unemotional (CU) Traits on the Development of Youth with Behavioral Disorders: A Systematic Review.

    Squillaci, Myriam / Benoit, Valérie

    International journal of environmental research and public health

    2021  Band 18, Heft 9

    Abstract: Numerous studies have shown that youth with behavioral disorders (BD) present an increased risk for developing severe and persistent antisocial behaviors in adulthood. Retrospective research notes that not all children and adolescents follow a negative ... ...

    Abstract Numerous studies have shown that youth with behavioral disorders (BD) present an increased risk for developing severe and persistent antisocial behaviors in adulthood. Retrospective research notes that not all children and adolescents follow a negative trajectory and explains this heterogeneity in particular by the severity of CU traits. Our study examines how these traits affect the functioning of children and adolescents with BD.
    Method: A systematic literature review conducted through various databases and using different keywords made it possible to analyze 52 studies published from 2015 to 2020 that measured the bidirectional effects of CU traits on the functioning of young.
    Results: Out of the 52 studies, 47 analyzed links between CU traits and neurobiological or mental health, 20 examined family and school contexts, eight focused on social adjustment, 10 on social interactions and 19 measured links with cognitive functioning, especially executive functions.
    Conclusion: Consistent with previous recommendations in the field, our findings emphasize the importance of assessing the presence of UC traits in early childhood to prevent the emergence of comorbid disorders and to target multimodal (early) interventions to influence the life trajectories of youth with high CU traits.
    Mesh-Begriff(e) Adolescent ; Adult ; Antisocial Personality Disorder/epidemiology ; Child ; Child, Preschool ; Conduct Disorder/epidemiology ; Emotions ; Humans ; Problem Behavior ; Retrospective Studies
    Sprache Englisch
    Erscheinungsdatum 2021-04-28
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Review ; Systematic Review
    ISSN 1660-4601
    ISSN (online) 1660-4601
    DOI 10.3390/ijerph18094712
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Effects of Positive Psychology Interventions on the Well-Being of Young Children: A Systematic Literature Review.

    Benoit, Valérie / Gabola, Piera

    International journal of environmental research and public health

    2021  Band 18, Heft 22

    Abstract: Over the last 20 years, the effectiveness of positive psychology interventions for the development of the well-being of children and adolescents and the moderation of high levels of anxiety and depression in this population has been largely demonstrated. ...

    Abstract Over the last 20 years, the effectiveness of positive psychology interventions for the development of the well-being of children and adolescents and the moderation of high levels of anxiety and depression in this population has been largely demonstrated. Emphasis has been placed on the promotion of well-being and prevention of mental health problems in the school context in order to foster, through positive psychology, the cognitive and socio-emotional development of primary and secondary students, e.g., by strengthening positive relationships, positive emotions, character strengths, optimism, and hope. However, little is known about the impact of these interventions on young children. This systematic review aims at examining the effects of positive psychology interventions on the well-being of early childhood children (<6 years old), both in the preschool education context with educators or teachers and also in the family context with parents. Several electronic databases were searched, and the findings systematically reviewed and reported by the PRISMA guidelines. Very few studies met the inclusion criteria (n = 3), highlighting the need for further research in this area. Indeed, all of the selected studies demonstrated the importance of positive psychology interventions with young children to promote positive aspects of development, such as gratitude, positive emotions, life satisfaction, accomplishment, positive relationship, or self-esteem. Limitations in the field are discussed.
    Mesh-Begriff(e) Adolescent ; Anxiety ; Child ; Child, Preschool ; Emotions ; Humans ; Optimism ; Psychology, Positive ; Self Concept
    Sprache Englisch
    Erscheinungsdatum 2021-11-17
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Review ; Systematic Review
    ZDB-ID 2175195-X
    ISSN 1660-4601 ; 1661-7827
    ISSN (online) 1660-4601
    ISSN 1661-7827
    DOI 10.3390/ijerph182212065
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes.

    Abdelwahed, Mayssa / Benoit, Valerie / Maalej, Bayen / Hilbert, Pascale / Calemard, Laurence Michel / Kamoun, Hassen / Ammar-Keskes, Leila / Belguith, Neila

    Gene

    2024  , Seite(n) 148625

    Abstract: The orchestration of fetal kidney development involves the precise control of numerous genes, including HNF1A, HNF1B and PKHD1. Understanding the genetic factors influencing fetal kidney development is essential for unraveling the complexities of renal ... ...

    Abstract The orchestration of fetal kidney development involves the precise control of numerous genes, including HNF1A, HNF1B and PKHD1. Understanding the genetic factors influencing fetal kidney development is essential for unraveling the complexities of renal disorders. This study aimed to search for disease-causing variants in HNF1A, HNF1B, PKHD1 genes, among fetus and babies or via parental samples, using sanger sequencing, NGS technologie and MLPA. The study revealed an absence of gene deletions and disease-causing variants in the HNF1B gene. However, five previously SNPs in the HNF1A gene were identified in four patients (patients 1, 2, 3, and 4). These include c.51C > G (Exon1, p. Leu17=), c.79A > C (Exon1, p. Ile27Leu), c.1375C > T (Exon7, p. Leu459=), c.1460G > A (Exon7, p. Ser487Asn), and c.1501 + 7G > A (Intron7). Additionally, in addition to previously SNPs identified, a de novo heterozygous missense mutation (p.E508K) was detected in patient 4. Furthermore, a heterozygous mutation in exon 16 (p. Arg494*; c.1480C >T) was identified in both parents of patient 5, allowing predictions of fetal homozygosity. Bioinformatic analyses predicted the effects of the c.1522G > A mutation (p.E508K) on splicing processes, pre-mRNA structures, and protein instability and conformation. Similarly, the c.1480C > T mutation (p. Arg494*) was predicted to introduce a premature codon stop, leads to the production of a shorter protein with altered or impaired function. Identification of variants in the HNF1A and in PKHD1 genes provides valuable insights into the genetic landscape of renal abnormalities in affected patients. These findings underscore the heterogeneity of genetic variants contributing to renal disorders and emphasize the importance of genetic screening.
    Sprache Englisch
    Erscheinungsdatum 2024-06-01
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article
    ZDB-ID 391792-7
    ISSN 1879-0038 ; 0378-1119
    ISSN (online) 1879-0038
    ISSN 0378-1119
    DOI 10.1016/j.gene.2024.148625
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: A second case of Okamoto syndrome caused by HNRNPK mutation.

    Maystadt, Isabelle / Deprez, Marie / Moortgat, Stéphanie / Benoît, Valérie / Karadurmus, Deniz

    American journal of medical genetics. Part A

    2020  Band 182, Heft 6, Seite(n) 1537–1539

    Mesh-Begriff(e) Heterogeneous-Nuclear Ribonucleoprotein K ; Humans ; Mutation ; Syndrome
    Chemische Substanzen Heterogeneous-Nuclear Ribonucleoprotein K ; HNRNPK protein, human (146410-60-8)
    Sprache Englisch
    Erscheinungsdatum 2020-03-28
    Erscheinungsland United States
    Dokumenttyp Letter ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.61568
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel: Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.

    Demaret, Tanguy / Wintjens, René / Sana, Gwenaelle / Docquir, Joachim / Bertin, Frederic / Ide, Christophe / Monestier, Olivier / Karadurmus, Deniz / Benoit, Valerie / Maystadt, Isabelle

    Frontiers in endocrinology

    2022  Band 13, Seite(n) 928284

    Abstract: PTH resistance is characterized by elevated parathyroid hormone (PTH) levels, hypocalcemia, hyperphosphatemia and it is classically associated ... ...

    Abstract PTH resistance is characterized by elevated parathyroid hormone (PTH) levels, hypocalcemia, hyperphosphatemia and it is classically associated with
    Mesh-Begriff(e) Humans ; Hyperphosphatemia ; Hypocalcemia/complications ; Parathyroid Hormone/metabolism ; Parathyroid Hormone-Related Protein ; Pseudohypoparathyroidism/diagnosis ; Pseudohypoparathyroidism/genetics
    Chemische Substanzen Parathyroid Hormone ; Parathyroid Hormone-Related Protein
    Sprache Englisch
    Erscheinungsdatum 2022-06-30
    Erscheinungsland Switzerland
    Dokumenttyp Case Reports ; Research Support, Non-U.S. Gov't
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2022.928284
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel ; Online: Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature.

    Biard, Jean-Marc / Payrat, Stéphanie / Clapuyt, Philippe / Barrea, Catherine / Benoit, Valérie / Baldin, Pamela / Bernard, Pierre / Van Grambezen, Bénédicte / Sznajer, Yves

    European journal of medical genetics

    2021  Band 64, Heft 4, Seite(n) 104189

    Abstract: Although the prognosis of CHARGE syndrome can be highly variable from mild until severe, final diagnosis is difficult to establish in utero. The aim of our study is to compare antenatal and postnatal findings in a retrospective cohort of 10 successive ... ...

    Abstract Although the prognosis of CHARGE syndrome can be highly variable from mild until severe, final diagnosis is difficult to establish in utero. The aim of our study is to compare antenatal and postnatal findings in a retrospective cohort of 10 successive patients with a positive CHD7 gene variant in order to identify the specific prenatal features for CHARGE syndrome diagnosis. Fetal ultrasound, follow-up and supplementary investigations are collected and compared to postnatal findings. Congenital heart defect (7/10), choanal atresia (7/10) and tracheoesophageal atresia (4/10) are the most frequent fetal anomalies found. Inner and external ear anomalies appear as the keystone (constant features) for prenatal diagnosis of CHARGE syndrome in fetuses with multiple anomalies and normal microarray karyotype. External ear malformations are identified in all cases by 3D ultrasound when carefully evaluated. MRI and temporal bone CT-Scan are second line useful tools to assess the diagnosis when looking for semicircular canal agenesis, arhinencephaly and/or choanal atresia. Before availability of prenatal exome sequencing in clinical routine, present findings lead to the recommendation that fetuses, with congenital heart defect (mainly septal and conotruncal), cleft lip/palate or unexplained polyhydramnios should carefully be screened for clues suggesting CHARGE syndrome using 2D and 3D ultrasound, MRI and temporal bone CT-Scan. When CHARGE syndrome is suspected with normal molecular karyotype, CHD7 gene sequencing must be offered.
    Mesh-Begriff(e) CHARGE Syndrome/diagnosis ; CHARGE Syndrome/diagnostic imaging ; CHARGE Syndrome/genetics ; DNA Helicases/genetics ; DNA-Binding Proteins/genetics ; Female ; Fetus/abnormalities ; Fetus/diagnostic imaging ; Genetic Testing/methods ; Genetic Testing/standards ; Humans ; Infant, Newborn ; Karyotyping/methods ; Karyotyping/standards ; Magnetic Resonance Imaging/methods ; Magnetic Resonance Imaging/standards ; Male ; Sequence Analysis, DNA/methods ; Sequence Analysis, DNA/standards ; Tomography, X-Ray Computed/methods ; Tomography, X-Ray Computed/standards ; Ultrasonography, Prenatal/methods ; Ultrasonography, Prenatal/standards
    Chemische Substanzen DNA-Binding Proteins ; DNA Helicases (EC 3.6.4.-) ; CHD7 protein, human (EC 3.6.4.12)
    Sprache Englisch
    Erscheinungsdatum 2021-03-02
    Erscheinungsland Netherlands
    Dokumenttyp Case Reports ; Journal Article ; Review
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2021.104189
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 84/9: Hefte anzeigen Standort:
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  7. Artikel ; Online: Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants.

    Moortgat, Stephanie / Manfroid, Isabelle / Pendeville, Hélène / Freeman, Stephen / Bourdouxhe, Jordane / Benoit, Valérie / Merhi, Ahmad / Philippe, Christophe / Faivre, Laurence / Maystadt, Isabelle

    Human mutation

    2021  Band 42, Heft 7, Seite(n) 827–834

    Abstract: Mental deficiency, epilepsy, hypogonadism, microcephaly, and obesity syndrome is a severe X-linked syndrome caused by pathogenic variants in EIF2S3. The gene encodes the γ subunit of the eukaryotic translation initiation factor-2, eIF2, essential for ... ...

    Abstract Mental deficiency, epilepsy, hypogonadism, microcephaly, and obesity syndrome is a severe X-linked syndrome caused by pathogenic variants in EIF2S3. The gene encodes the γ subunit of the eukaryotic translation initiation factor-2, eIF2, essential for protein translation. A recurrent frameshift variant is described in severely affected patients while missense variants usually cause a moderate phenotype. We identified a novel missense variant (c.433A>G, p.(Met145Val)) in EIF2S3 in a mildly affected patient. Studies on zebrafish confirm the pathogenicity of this novel variant and three previously published missense variants. CRISPR/Cas9 knockout of eif2s3 in zebrafish embryos recapitulate the human microcephaly and show increased neuronal cell death. Abnormal high glucose levels were identified in mutant embryos, caused by beta cell and pancreatic progenitor deficiency, not related to apoptosis. Additional studies in patient-derived fibroblasts did not reveal apoptosis. Our results provide new insights into disease physiopathology, suggesting tissue-dependent mechanisms.
    Mesh-Begriff(e) Animals ; Genitalia ; Humans ; Mental Retardation, X-Linked/genetics ; Mutation ; Phenotype ; Zebrafish/genetics
    Sprache Englisch
    Erscheinungsdatum 2021-05-19
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.24215
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  8. Artikel: Übersicht über die Ergebnisse eines Forschungsprojekts zur schulischen Integration von Kindern mit einer geistigen Behinderung

    Semier Dessemontet, Rachel / Benoit, Valerie / Bless, Gerard

    Schweizerische Zeitschrift für Heilpädagogik

    2015  Band 21, Heft 1, Seite(n) 36–42

    Schlagwörter Geistige Behinderung ; Kind
    Sprache Deutsch
    Dokumenttyp Artikel
    ZDB-ID 1240436-6
    ISSN 1420-1607
    Datenquelle Literaturdatenbank des Gesundheitswesens

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  9. Artikel: Yogurt Consumption Is Associated with Better Dietary Intake and Diet Quality in School-aged Children (P18-112-19)

    Zhu, Yong / Agler, Anne Hermetet / Benoit, Valerie / Holschuh, Norton / Jain, Neha / Sharma, Mitesh / Smith, Jessica / Vanage, Vipra

    Current developments in nutrition. 2019 June 13, v. 3, no. Supplement_1

    2019  

    Abstract: To assess associations between yogurt consumption and dietary intake as well as diet quality in school-aged children in the United States. A total of 3709 children aged 6–12 years from the National Health and Nutrition Examination Survey 2011–2012, 2013– ... ...

    Abstract To assess associations between yogurt consumption and dietary intake as well as diet quality in school-aged children in the United States. A total of 3709 children aged 6–12 years from the National Health and Nutrition Examination Survey 2011–2012, 2013–2014 and 2015–2016 were included in the study. Day 1 dietary data were used to determine yogurt consumption status, energy and nutrient intake. Healthy Eating Index 2015 (HEI-2015) was used as a measure of diet quality. Multiple linear regression analyses for surveys were conducted to estimate associations between yogurt consumption and dietary intake, as well as diet quality, adjusting for sociodemographic characteristics. About 9% of children aged 6–12 years were yogurt eaters. Compared to non-eaters, children who reported yogurt consumption had significantly higher intake of calcium, magnesium, phosphorus, potassium, total sugar and carbohydrate, as well as significantly less intake of total fat and sodium (P < 0.05 for all). There were no significant differences on intake of added sugar and total energy intake. HEI-2015 total score, as well as sub scores for greens and beans, whole fruit, dairy, and sodium were significantly higher in yogurt eaters than non-eaters (P < 0.05 for all). Consumption of yogurt is associated with increased intake of several key vitamins and minerals, including nutrients of public health concern such as calcium and potassium, in school-aged children. Yogurt consumption is also associated with better diet quality in this population. The study was funded by General Mills, Inc.
    Schlagwörter added sugars ; beans ; calcium ; energy intake ; food intake ; fruits ; green leafy vegetables ; healthy eating habits ; magnesium ; minerals ; National Health and Nutrition Examination Survey ; nutrient intake ; nutrients of public health concern ; nutritional adequacy ; phosphorus ; potassium ; regression analysis ; school children ; sociodemographic characteristics ; sodium ; vitamins ; yogurt ; United States
    Sprache Englisch
    Erscheinungsverlauf 2019-0613
    Erscheinungsort Oxford University Press
    Dokumenttyp Artikel
    ISSN 2475-2991
    DOI 10.1093/cdn/nzz039.P18-112-19
    Datenquelle NAL Katalog (AGRICOLA)

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  10. Artikel: Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel

    Lhuissier, Charlène / Wagner, Bart E / Vincent, Amy / Garraux, Gaëtan / Hougrand, Olivier / Van Coster, Rudy / Benoit, Valerie / Karadurmus, Deniz / Lenaers, Guy / Gueguen, Naïg / Chevrollier, Arnaud / Maystadt, Isabelle

    Frontiers in neurology

    2022  Band 13, Seite(n) 937885

    Abstract: Mutations ... ...

    Abstract Mutations in
    Sprache Englisch
    Erscheinungsdatum 2022-09-23
    Erscheinungsland Switzerland
    Dokumenttyp Case Reports
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2022.937885
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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