LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 10

Search options

  1. Article: Hyperinsulinisme congénital : apports de la biologie, de la réponse thérapeutique, de la génétique et de l’imagerie.

    Vandendaele, Catherine / Kaschten, Sophie / Parent, Anne-Simone / Fudvoye, Julie

    Revue medicale de Liege

    2024  Volume 79, Issue 3, Page(s) 168–174

    Abstract: Congenital hyperinsulinism is the most common cause of recurrent hypoglycemia in newborns and children. Early diagnosis and rapid management are essential to avoid hypoglycaemic brain injury and later neurological complications. Management of those ... ...

    Title translation Congenital hyperinsulinism : contributions of chemistry, therapeutic response, genetics and imaging.
    Abstract Congenital hyperinsulinism is the most common cause of recurrent hypoglycemia in newborns and children. Early diagnosis and rapid management are essential to avoid hypoglycaemic brain injury and later neurological complications. Management of those patients involves biological evaluation, molecular genetics, imaging techniques and surgical advances. We report the case of a newborn with recurrent hypoglycemia due to congenital hyperinsulinism (CHI) caused by a new variant in the ABCC8 gene. Fluorine 18-L-3,4 Dihydroxyphenylalanine Positron Emission Tomography (18F-DOPA PET/CT scan) reported a focal lesion at the isthmus of the pancreas which has been removed by laparoscopic surgery with a complete recovery for the patient.
    MeSH term(s) Child ; Humans ; Infant, Newborn ; Infant ; Positron Emission Tomography Computed Tomography ; Congenital Hyperinsulinism/diagnostic imaging ; Congenital Hyperinsulinism/genetics ; Congenital Hyperinsulinism/pathology ; Pancreas/pathology ; Pancreas/surgery ; Positron-Emission Tomography/methods ; Laparoscopy
    Language French
    Publishing date 2024-03-15
    Publishing country Belgium
    Document type Case Reports ; English Abstract ; Journal Article
    ZDB-ID 414001-1
    ISSN 0370-629X ; 0035-3663
    ISSN 0370-629X ; 0035-3663
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  2. Article ; Online: Secular trends in growth.

    Fudvoye, Julie / Parent, Anne-Simone

    Annales d'endocrinologie

    2017  Volume 78, Issue 2, Page(s) 88–91

    Abstract: Human adult height has been increasing world-wide for a century and a half. The rate of increase depends on time and place of measurement. Final height appears to have reached a plateau in Northern European countries but it is still increasing in ... ...

    Abstract Human adult height has been increasing world-wide for a century and a half. The rate of increase depends on time and place of measurement. Final height appears to have reached a plateau in Northern European countries but it is still increasing in southern European countries as well as Japan. While mean birth length has not changed recently in industrialized countries, the secular trend finally observed in adult height mostly originates during the first 2 years of life. Secular trend in growth is a marker of public health and provides insights into the interaction between growth and environment. It has been shown to be affected by income, social status, infections and nutrition. While genetic factors cannot explain such rapid changes in average population height, epigenetic factors could be the link between growth and environment.
    Language English
    Publishing date 2017-06
    Publishing country France
    Document type Journal Article
    ZDB-ID 299-9
    ISSN 2213-3941 ; 0003-4266
    ISSN (online) 2213-3941
    ISSN 0003-4266
    DOI 10.1016/j.ando.2017.04.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  3. Article ; Online: Endocrine disrupters and possible contribution to pubertal changes.

    Fudvoye, Julie / Lopez-Rodriguez, David / Franssen, Delphine / Parent, Anne-Simone

    Best practice & research. Clinical endocrinology & metabolism

    2019  Volume 33, Issue 3, Page(s) 101300

    Abstract: The onset of puberty strongly depends on organizational processes taking place during the fetal and early postnatal life. Therefore, exposure to environmental pollutants such as Endocrine disrupting chemicals (EDCs) during critical periods of development ...

    Abstract The onset of puberty strongly depends on organizational processes taking place during the fetal and early postnatal life. Therefore, exposure to environmental pollutants such as Endocrine disrupting chemicals (EDCs) during critical periods of development can result in delayed/advanced puberty and long-term reproductive consequences. Human evidence of altered pubertal timing after exposure to endocrine disrupting chemicals is equivocal. However, the age distribution of pubertal signs points to a skewed distribution towards earliness for initial pubertal stages and towards lateness for final pubertal stages. Such distortion of distribution is a recent phenomenon and suggests environmental influences including the possible role of nutrition, stress and endocrine disruptors. Rodent and ovine studies indicate a role of fetal and neonatal exposure to EDCs, along the concept of early origin of health and disease. Such effects involve neuroendocrine mechanisms at the level of the hypothalamus where homeostasis of reproduction is programmed and regulated but also peripheral effects at the level of the gonads or the mammary gland.
    MeSH term(s) Animals ; Endocrine Disruptors/adverse effects ; Environmental Pollutants/adverse effects ; Female ; Homeostasis/drug effects ; Humans ; Hypothalamus/drug effects ; Male ; Puberty/drug effects ; Puberty, Precocious/epidemiology
    Chemical Substances Endocrine Disruptors ; Environmental Pollutants
    Language English
    Publishing date 2019-07-27
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2052339-7
    ISSN 1878-1594 ; 1532-1908 ; 1521-690X
    ISSN (online) 1878-1594 ; 1532-1908
    ISSN 1521-690X
    DOI 10.1016/j.beem.2019.101300
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  4. Article: 6q24 Transient Neonatal Diabetes - How to Manage while Waiting for Genetic Results.

    Fudvoye, Julie / Farhat, Khaldoun / De Halleux, Virginie / Nicolescu, Corina Ramona

    Frontiers in pediatrics

    2016  Volume 4, Page(s) 124

    Abstract: Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation. This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed ... ...

    Abstract Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation. This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed with transient diabetes. The baby was born at 37 weeks of gestation with a severe intrauterine growth restriction. Except a mild macroglossia and signs of growth restriction, physical examination was normal. On the fifth day of life, hyperglycemia (180 mg/dl) was noted, and the next day, the diagnosis of diabetes was confirmed (high blood sugar, glucosuria, undetectable levels of insulin and C-peptide). Insulin infusion, initially intravenously and then subcutaneously, was started, tailored to assure the growth catch-up and normalize the blood sugar levels. At the age of 4 weeks, the baby returned at home under pump. At 8 weeks, the clinical impression of evolution to a transient diabetes (decreasing needs of insulin with very satisfactory weight gain) was genetically confirmed (paternal uniparental disomy of chromosome 6). There is no screening for neonatal diabetes, but the clinical suspicion avoids the metabolic decompensation and allows early initiation of insulin therapy. The genetic approach (for disease itself and its associated features) relies on timely clinical updates.
    Language English
    Publishing date 2016-11-17
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2016.00124
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  5. Article: Endocrine-disrupting chemicals and human growth and maturation: a focus on early critical windows of exposure.

    Fudvoye, Julie / Bourguignon, Jean-Pierre / Parent, Anne-Simone

    Vitamins and hormones

    2014  Volume 94, Page(s) 1–25

    Abstract: Endocrine-disrupting chemicals (EDCs) are exogenous substances that interfere with hormone synthesis, metabolism, or action. In addition, some of them could cause epigenetic alterations of DNA that can be transmitted to the following generations. Because ...

    Abstract Endocrine-disrupting chemicals (EDCs) are exogenous substances that interfere with hormone synthesis, metabolism, or action. In addition, some of them could cause epigenetic alterations of DNA that can be transmitted to the following generations. Because the developing organism is highly dependent on sex steroids and thyroid hormones for its maturation, the fetus and the child are very sensitive to any alteration of their hormonal environment. An additional concern about that early period of life comes from the shaping of the homeostatic mechanisms that takes place also at that time with involvement of epigenetic mechanisms along with the concept of fetal origin of health and disease. In this chapter, we will review the studies reporting effects of EDCs on human development. Using a translational approach, we will review animal studies that can shed light on some mechanisms of action of EDCs on the developing organism. We will focus on the major hormone-dependent stages of development: fetal growth, sexual differentiation, puberty, brain development, and energy balance. We will also discuss the possible epigenetic effects of EDCs on human development.
    MeSH term(s) Adolescent ; Adolescent Development/drug effects ; Adult ; Animals ; Child ; Child Development/drug effects ; Endocrine Disruptors/toxicity ; Environmental Pollutants/toxicity ; Female ; Fetal Development/drug effects ; Humans ; Male ; Pregnancy ; Sexual Maturation/drug effects
    Chemical Substances Endocrine Disruptors ; Environmental Pollutants
    Language English
    Publishing date 2014
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 201161-x
    ISSN 2162-2620 ; 0083-6729
    ISSN (online) 2162-2620
    ISSN 0083-6729
    DOI 10.1016/B978-0-12-800095-3.00001-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  6. Article ; Online: Contribution of the Endocrine Perspective in the Evaluation of Endocrine Disrupting Chemical Effects: The Case Study of Pubertal Timing.

    Bourguignon, Jean-Pierre / Juul, Anders / Franssen, Delphine / Fudvoye, Julie / Pinson, Anneline / Parent, Anne-Simone

    Hormone research in paediatrics

    2016  Volume 86, Issue 4, Page(s) 221–232

    Abstract: Debate makes science progress. In the field of endocrine disruption, endocrinology has brought up findings that substantiate a specific perspective on the definition of endocrine disrupting chemicals (EDCs), the role of the endocrine system and the ... ...

    Abstract Debate makes science progress. In the field of endocrine disruption, endocrinology has brought up findings that substantiate a specific perspective on the definition of endocrine disrupting chemicals (EDCs), the role of the endocrine system and the endpoints of hormone and EDC actions among other issues. This paper aims at discussing the relevance of the endocrine perspective with regard to EDC effects on pubertal timing. Puberty involves particular sensitivity to environmental conditions. Reports about the advancing onset of puberty in several countries have led to the hypothesis that the increasing burden of EDCs could be an explanation. In fact, pubertal timing currently shows complex changes since advancement of some manifestations of puberty (e.g. breast development) and no change or delay of others (e.g. menarche, pubic hair development) can be observed. In a human setting with exposure to low doses of tenths or hundreds of chemicals since prenatal life, causation is most difficult to demonstrate and justifies a translational approach using animal models. Studies in rodents indicate an exquisite sensitivity of neuroendocrine endpoints to EDCs. Altogether, the data from both human and animal studies support the importance of concepts derived from endocrinology in the evaluation of EDC effects on puberty.
    Language English
    Publishing date 2016
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2537278-6
    ISSN 1663-2826 ; 1663-2818
    ISSN (online) 1663-2826
    ISSN 1663-2818
    DOI 10.1159/000442748
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  7. Article ; Online: Current Changes in Pubertal Timing: Revised Vision in Relation with Environmental Factors Including Endocrine Disruptors.

    Parent, Anne-Simone / Franssen, Delphine / Fudvoye, Julie / Pinson, Anneline / Bourguignon, Jean-Pierre

    Endocrine development

    2016  Volume 29, Page(s) 174–184

    Abstract: The aim of this chapter is to revise some common views on changes in pubertal timing. This revision is based on recent epidemiological findings on the clinical indicators of pubertal timing and data on environmental factor effects and underlying ... ...

    Abstract The aim of this chapter is to revise some common views on changes in pubertal timing. This revision is based on recent epidemiological findings on the clinical indicators of pubertal timing and data on environmental factor effects and underlying mechanisms. A current advancement in timing of female puberty is usually emphasized. It appears, however, that timing is also changing in males. Moreover, the changes are towards earliness for initial pubertal stages and towards lateness for final stages in both sexes. Such observations indicate the complexity of environmental influences on pubertal timing. The mechanisms of changes in pubertal timing may involve both the central neuroendocrine control and peripheral effects at tissues targeted by gonadal steroids. While sufficient energy availability is a clue to the mechanism of pubertal development, changes in the control of both energy balance and reproduction may vary under the influence of common determinants such as endocrine-disrupting chemicals (EDCs). These effects can take place right before puberty as well as much earlier, during fetal and neonatal life. Finally, environmental factors can interact with genetic factors in determining changes in pubertal timing. Therefore, the variance in pubertal timing is no longer to be considered under absolutely separate control by environmental and genetic determinants. Some recommendations are provided for evaluation of EDC impact in the management of pubertal disorders and for possible reduction of EDC exposure along the precautionary principle.
    MeSH term(s) Adolescent ; Child ; Endocrine Disruptors/toxicity ; Environment ; Female ; Humans ; Male ; Puberty/drug effects ; Sexual Maturation
    Chemical Substances Endocrine Disruptors
    Language English
    Publishing date 2016
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ISSN 1662-2979 ; 1421-7082
    ISSN (online) 1662-2979
    ISSN 1421-7082
    DOI 10.1159/000438885
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  8. Article ; Online: Developmental variations in environmental influences including endocrine disruptors on pubertal timing and neuroendocrine control: Revision of human observations and mechanistic insight from rodents.

    Parent, Anne-Simone / Franssen, Delphine / Fudvoye, Julie / Gérard, Arlette / Bourguignon, Jean-Pierre

    Frontiers in neuroendocrinology

    2015  Volume 38, Page(s) 12–36

    Abstract: Puberty presents remarkable individual differences in timing reaching over 5 years in humans. We put emphasis on the two edges of the age distribution of pubertal signs in humans and point to an extended distribution towards earliness for initial ... ...

    Abstract Puberty presents remarkable individual differences in timing reaching over 5 years in humans. We put emphasis on the two edges of the age distribution of pubertal signs in humans and point to an extended distribution towards earliness for initial pubertal stages and towards lateness for final pubertal stages. Such distortion of distribution is a recent phenomenon. This suggests changing environmental influences including the possible role of nutrition, stress and endocrine disruptors. Our ability to assess neuroendocrine effects and mechanisms is very limited in humans. Using the rodent as a model, we examine the impact of environmental factors on the individual variations in pubertal timing and the possible underlying mechanisms. The capacity of environmental factors to shape functioning of the neuroendocrine system is thought to be maximal during fetal and early postnatal life and possibly less important when approaching the time of onset of puberty.
    MeSH term(s) Animals ; Endocrine Disruptors/metabolism ; Environment ; Environmental Exposure/adverse effects ; Humans ; Neurosecretory Systems/growth & development ; Rodentia ; Sexual Maturation/physiology
    Chemical Substances Endocrine Disruptors
    Language English
    Publishing date 2015-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 390985-2
    ISSN 1095-6808 ; 0532-7466 ; 0091-3022
    ISSN (online) 1095-6808
    ISSN 0532-7466 ; 0091-3022
    DOI 10.1016/j.yfrne.2014.12.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  9. Article ; Online: Compound heterozygous mutations in the luteinizing hormone receptor signal peptide causing 46,XY disorder of sex development.

    Potorac, Iulia / Trehan, Ashutosh / Szymańska, Kamila / Fudvoye, Julie / Thiry, Albert / Huhtaniemi, Ilpo / Daly, Adrian F / Beckers, Albert / Parent, Anne-Simone / Rivero-Müller, Adolfo

    European journal of endocrinology

    2019  Volume 181, Issue 2, Page(s) K11–K20

    Abstract: Testosterone production by the fetal testis depends on a functional relationship between hCG and the LH/chorionic gonadotropin receptor (LHCGR). Failure of the receptor to correctly respond to its ligand leads to impaired sexual differentiation in males. ...

    Abstract Testosterone production by the fetal testis depends on a functional relationship between hCG and the LH/chorionic gonadotropin receptor (LHCGR). Failure of the receptor to correctly respond to its ligand leads to impaired sexual differentiation in males. A phenotypically female patient with pubertal delay had a 46,XY karyotype and was diagnosed with 46,XY disorder of sex development (DSD). Novel compound heterozygous LHCGR mutations were found in the signal peptide: a duplication p.L10_Q17dup of maternal origin, and a deletion (p.K12_L15del) and a p.L16Q missense mutation of paternal origin. cAMP production was very low for both the deletion and duplication mutations and was halved for the missense mutant. The duplication and missense mutations were both expressed intracellularly, but at very low levels at the cell membrane; they were most likely retained in the endoplasmic reticulum. The deletion mutant had a very limited intracellular expression, indicating impaired biosynthesis. There was reduced expression of all three mutants, which was most marked for the deletion mutation. There was also decreased protein expression of all three mutant receptors. In the deletion mutation, the presence of a lower-molecular-weight band corresponding to LHCGR monomer, probably due to lack of glycosylation, and a lack of bands corresponding to dimers/oligomers suggests absent ER entry. This novel case of 46,XY DSD illustrates how different LHCGR signal peptide mutations led to complete receptor inactivation by separate mechanisms. The study underlines the importance of specific regions of signal peptides and expands the spectrum of LHCGR mutations.
    MeSH term(s) Adolescent ; Disorder of Sex Development, 46,XY/diagnostic imaging ; Disorder of Sex Development, 46,XY/genetics ; Female ; Humans ; Mutation/genetics ; Receptors, LH/genetics
    Chemical Substances LHCGR protein, human ; Receptors, LH
    Language English
    Publishing date 2019-06-05
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1183856-5
    ISSN 1479-683X ; 0804-4643
    ISSN (online) 1479-683X
    ISSN 0804-4643
    DOI 10.1530/EJE-19-0170
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  10. Article: Contribution of the Endocrine Perspective in the Evaluation of Endocrine Disrupting Chemical Effects: The Case Study of Pubertal Timing

    Bourguignon, Jean-Pierre / Juul, Anders / Franssen, Delphine / Fudvoye, Julie / Pinson, Anneline / Parent, Anne-Simone

    Hormone Research in Paediatrics

    2016  Volume 86, Issue 4, Page(s) 221–232

    Abstract: Debate makes science progress. In the field of endocrine disruption, endocrinology has brought up findings that substantiate a specific perspective on the definition of endocrine disrupting chemicals (EDCs), the role of the endocrine system and the ... ...

    Institution Developmental Neuroendocrinology Unit, GIGA Neurosciences, University of Liège, Sart-Tilman, Liège, and Department of Pediatrics, CHU de Liège, Chênée, Belgium Department of Growth and Reproduction and EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
    Abstract Debate makes science progress. In the field of endocrine disruption, endocrinology has brought up findings that substantiate a specific perspective on the definition of endocrine disrupting chemicals (EDCs), the role of the endocrine system and the endpoints of hormone and EDC actions among other issues. This paper aims at discussing the relevance of the endocrine perspective with regard to EDC effects on pubertal timing. Puberty involves particular sensitivity to environmental conditions. Reports about the advancing onset of puberty in several countries have led to the hypothesis that the increasing burden of EDCs could be an explanation. In fact, pubertal timing currently shows complex changes since advancement of some manifestations of puberty (e.g. breast development) and no change or delay of others (e.g. menarche, pubic hair development) can be observed. In a human setting with exposure to low doses of tenths or hundreds of chemicals since prenatal life, causation is most difficult to demonstrate and justifies a translational approach using animal models. Studies in rodents indicate an exquisite sensitivity of neuroendocrine endpoints to EDCs. Altogether, the data from both human and animal studies support the importance of concepts derived from endocrinology in the evaluation of EDC effects on puberty.
    Keywords Sexual maturation ; Puberty ; Neuroendocrine disruption
    Language English
    Publishing date 2016-01-23
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Mini Review
    ZDB-ID 2537278-6
    ISBN 978-3-318-05971-7 ; 978-3-318-05972-4 ; 3-318-05971-4 ; 3-318-05972-2
    ISSN 1663-2826 ; 1663-2818
    ISSN (online) 1663-2826
    ISSN 1663-2818
    DOI 10.1159/000442748
    Database Karger publisher's database

    More links

    Kategorien

To top