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  1. Article: The iron driven pathway of hepcidin synthesis.

    Deugnier, Y

    Gastroenterologie clinique et biologique

    2010  Volume 34, Issue 6-7, Page(s) 351–354

    Abstract: Iron is an essential trace element in mammalian metabolism. Body iron stores require a tight regulation to avoid detrimental effects due to iron excess or to iron deficiency. Iron losses being not adaptable, iron balance is controlled only through ... ...

    Abstract Iron is an essential trace element in mammalian metabolism. Body iron stores require a tight regulation to avoid detrimental effects due to iron excess or to iron deficiency. Iron losses being not adaptable, iron balance is controlled only through intestinal iron absorption which is regulated by the hepatic peptide hepcidin. Hepcidin synthesis is controlled by several genes including the HFE, hemojuvelin and transferrin receptor 2 genes. Mutations in these genes lead to a phenotype of hemochromatosis. Recently, the bone morphogenetic protein 6 was shown to be the key endogenous ligand involved in the cascade regulating hepcidin synthesis.
    MeSH term(s) Antimicrobial Cationic Peptides/biosynthesis ; Antimicrobial Cationic Peptides/physiology ; Bone Morphogenetic Protein 6/physiology ; GPI-Linked Proteins/genetics ; Hemochromatosis/genetics ; Hemochromatosis Protein ; Hepcidins ; Histocompatibility Antigens Class I/genetics ; Humans ; Iron/metabolism ; Liver/metabolism ; Membrane Proteins/genetics ; Mutation ; Receptors, Transferrin/genetics
    Chemical Substances Antimicrobial Cationic Peptides ; Bone Morphogenetic Protein 6 ; GPI-Linked Proteins ; HAMP protein, human ; HFE protein, human ; HJV protein, human ; Hemochromatosis Protein ; Hepcidins ; Histocompatibility Antigens Class I ; Membrane Proteins ; Receptors, Transferrin ; TFR2 protein, human ; Iron (E1UOL152H7)
    Language English
    Publishing date 2010-05-27
    Publishing country France
    Document type Journal Article ; Review
    ZDB-ID 752002-5
    ISSN 0399-8320
    ISSN 0399-8320
    DOI 10.1016/j.gcb.2010.04.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Patient-reported outcomes and their relation with iron parameters in HFE haemochromatosis during maintenance therapy: A prospective cohort study.

    Belhomme, Nicolas / Morcet, Jeff / Lescoat, Alain / Robin, François / Deugnier, Yves / Bardou-Jacquet, Edouard / Lainé, Fabrice

    Liver international : official journal of the International Association for the Study of the Liver

    2022  Volume 42, Issue 11, Page(s) 2473–2481

    Abstract: Background & aims: The standard of care for haemochromatosis is regular phlebotomy in order to maintain low ferritin levels. Many patients report fatigue or joint pain despite serum ferritin within the therapeutic targets. We evaluated Patient-Reported ... ...

    Abstract Background & aims: The standard of care for haemochromatosis is regular phlebotomy in order to maintain low ferritin levels. Many patients report fatigue or joint pain despite serum ferritin within the therapeutic targets. We evaluated Patient-Reported Outcomes, and their relation with iron parameters, in C282Y homozygous patients undergoing maintenance phlebotomy.
    Methods: Patients were prospectively enrolled in a French referral care centre. At each phlebotomy, patients completed a numeric fatigue scale, a joint pain questionnaire and SF-36 Mental Component Score (MCS) and Physical Component Score (PCS). Haemoglobin, iron, TS and ferritin were collected concomitantly.
    Results: About 701 visits were performed in 259 patients. The median fatigue score was 3/10; 171 (66%) patients reported joint pain. Age and worsening of joint pain were associated with fatigue (p < .0001 for both). Female gender (p < .037), age (p < .003), and a decrease of TS (p = .050) were associated with joint pain. Main features associated with PCS <50 were worsening of joint pain and age (p < .001 for both) and TS <20% (p < .02).
    Conclusions: Fatigue was independent from iron parameters. The main factor impacting quality of life was joint pain, which was more severe in patients with low TS values. Then, a more precise monitoring of TS should be proposed during haemochromatosis maintenance therapy; while less stringent monitoring of serum ferritin levels could be tested.
    MeSH term(s) Arthralgia ; Fatigue/etiology ; Female ; Ferritins ; Hemochromatosis/complications ; Hemochromatosis/genetics ; Hemochromatosis/therapy ; Hemochromatosis Protein/genetics ; Histocompatibility Antigens Class I ; Humans ; Iron/metabolism ; Patient Reported Outcome Measures ; Prospective Studies ; Quality of Life ; Transferrin
    Chemical Substances HFE protein, human ; Hemochromatosis Protein ; Histocompatibility Antigens Class I ; Transferrin ; Ferritins (9007-73-2) ; Iron (E1UOL152H7)
    Language English
    Publishing date 2022-06-30
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2102783-3
    ISSN 1478-3231 ; 1478-3223
    ISSN (online) 1478-3231
    ISSN 1478-3223
    DOI 10.1111/liv.15341
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  3. Article: Les surcharges hépatiques en fer chez l'homme.

    Deugnier, Yves

    Bulletin de l'Academie nationale de medecine

    2005  Volume 189, Issue 8, Page(s) 1665–76; discussion 1676–7

    Abstract: Recent advances in molecular genetics have led to a better understanding of hereditary iron overload syndromes, of which the most frequent are recessive HFE-hemochromatosis and, to a much lesser extent, dominant ferroportin disease. Acquired iron ... ...

    Title translation Human hepatic iron overload syndromes.
    Abstract Recent advances in molecular genetics have led to a better understanding of hereditary iron overload syndromes, of which the most frequent are recessive HFE-hemochromatosis and, to a much lesser extent, dominant ferroportin disease. Acquired iron overload syndromes can be related to metabolic syndrome (insulin resistance syndrome), end-stage cirrhosis, or hematological disorders such as thalassemia and refractory anaemia.
    MeSH term(s) Humans ; Iron Overload/diagnosis ; Iron Overload/etiology ; Iron Overload/metabolism ; Iron Overload/therapy ; Liver Cirrhosis/metabolism
    Language French
    Publishing date 2005-11
    Publishing country Netherlands
    Document type English Abstract ; Journal Article ; Review
    ZDB-ID 213227-8
    ISSN 0001-4079
    ISSN 0001-4079
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  4. Article ; Online: Hépatosidérose dysmétabolique : une maladie générale ?

    Deugnier, Yves / Lainé, Fabrice

    Presse medicale (Paris, France : 1983)

    2014  Volume 43, Issue 6 Pt 1, Page(s) 625–627

    Title translation Dysmetabolic iron overload syndrome: a systemic disease?.
    MeSH term(s) Animals ; Fatty Liver/diagnosis ; Fatty Liver/physiopathology ; Fatty Liver/therapy ; Hemosiderosis/diagnosis ; Hemosiderosis/physiopathology ; Hemosiderosis/therapy ; Humans ; Iron Overload/diagnosis ; Iron Overload/physiopathology ; Iron Overload/therapy ; Liver Cirrhosis/diagnosis ; Liver Cirrhosis/physiopathology ; Liver Cirrhosis/therapy ; Liver Diseases/diagnosis ; Liver Diseases/physiopathology ; Liver Diseases/therapy ; Mice ; Mice, Inbred C57BL ; Phlebotomy
    Language French
    Publishing date 2014-06
    Publishing country France
    Document type Editorial
    ZDB-ID 120943-7
    ISSN 2213-0276 ; 0032-7867 ; 0755-4982 ; 0301-1518
    ISSN (online) 2213-0276
    ISSN 0032-7867 ; 0755-4982 ; 0301-1518
    DOI 10.1016/j.lpm.2014.03.008
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  5. Article ; Online: Dysmetabolic iron overload syndrome (DIOS).

    Deugnier, Yves / Bardou-Jacquet, Édouard / Lainé, Fabrice

    Presse medicale (Paris, France : 1983)

    2017  

    Abstract: Dysmetabolic iron overload syndrome (DIOS) corresponds to mild increase in both liver and body iron stores associated with various components of metabolic syndrome in the absence of any identifiable cause of iron excess. It is characterized by ... ...

    Abstract Dysmetabolic iron overload syndrome (DIOS) corresponds to mild increase in both liver and body iron stores associated with various components of metabolic syndrome in the absence of any identifiable cause of iron excess. It is characterized by hyperferritinemia with normal or moderately increased transferrin saturation, one or several metabolic abnormalities (increased body mass index with android distribution of fat, elevated blood pressure, dyslipidaemia, abnormal glucose metabolism, steatohepatitis), and mild hepatic iron excess at magnetic resonance imaging or liver biopsy. Alteration of iron metabolism in DIOS likely results from a multifactorial and dynamic process triggered by an excessively rich diet, facilitated by environmental and genetic cofactors and implying a cross-talk between the liver and visceral adipose tissue. Phlebotomy therapy cannot be currently considered as a valuable option in DIOS patients. Sustained modification of diet and life-style habits remains the first therapeutic intervention in these patients together with drug control of increased blood pressure, abnormal blood glucose and dyslipidaemia when necessary.
    Language English
    Publishing date 2017-11-20
    Publishing country France
    Document type Journal Article
    ZDB-ID 120943-7
    ISSN 2213-0276 ; 0032-7867 ; 0755-4982 ; 0301-1518
    ISSN (online) 2213-0276
    ISSN 0032-7867 ; 0755-4982 ; 0301-1518
    DOI 10.1016/j.lpm.2017.05.036
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  6. Article: Iron and liver cancer.

    Deugnier, Yves

    Alcohol (Fayetteville, N.Y.)

    2003  Volume 30, Issue 2, Page(s) 145–150

    Abstract: Mechanisms whereby iron may act in carcinogenesis are induction of oxidative stress, facilitation of tumor growth, and modification of the immune system. Results of clinical and epidemiologic studies demonstrate a strong association between iron excess ( ... ...

    Abstract Mechanisms whereby iron may act in carcinogenesis are induction of oxidative stress, facilitation of tumor growth, and modification of the immune system. Results of clinical and epidemiologic studies demonstrate a strong association between iron excess (even at mild levels) and the development of cancer at any site, but they do not indicate whether this reflects a causal link or an indirect association through other factors (i.e., aging, alcohol consumption, and insulin resistance). Findings obtained from experimental work are not conclusive with respect to a direct carcinogenic role of iron, but they support a carcinogenic or co-carcinogenic role of iron in chemically induced carcinogenesis.
    MeSH term(s) Hemochromatosis/genetics ; Hemochromatosis Protein ; Histocompatibility Antigens Class I/genetics ; Humans ; Immunity/drug effects ; Iron/administration & dosage ; Iron/adverse effects ; Liver Diseases/complications ; Liver Neoplasms/etiology ; Liver Neoplasms/immunology ; Liver Neoplasms/pathology ; Membrane Proteins/genetics ; Mutation ; Oxidative Stress
    Chemical Substances HFE protein, human ; Hemochromatosis Protein ; Histocompatibility Antigens Class I ; Membrane Proteins ; Iron (E1UOL152H7)
    Language English
    Publishing date 2003-08-14
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 605912-0
    ISSN 0741-8329
    ISSN 0741-8329
    DOI 10.1016/s0741-8329(03)00129-0
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  7. Article: Hémochromatose.

    Deugnier, Yves

    La Revue du praticien

    2004  Volume 54, Issue 6, Page(s) 669–673

    Title translation Hemochromatosis.
    MeSH term(s) Diagnosis, Differential ; Hemochromatosis/diagnosis ; Hemochromatosis/genetics ; Hemochromatosis/physiopathology ; Hemochromatosis/therapy ; Humans ; Phlebotomy ; Transferrin/analysis
    Chemical Substances Transferrin
    Language French
    Publishing date 2004-03-31
    Publishing country France
    Document type Journal Article
    ZDB-ID 205365-2
    ISSN 2101-017X ; 0035-2640
    ISSN (online) 2101-017X
    ISSN 0035-2640
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  8. Article: Dysmetabolic iron overload syndrome.

    Deugnier, Yves / Bardou-Jacquet, Édouard / Lainé, Fabrice

    Bulletin de l'Academie nationale de medecine

    2016  Volume 200, Issue 2, Page(s) 327–333

    Abstract: Mild hyperferritinemia is frequent in patients with metabolic syndrome. When exceeding 500 pg/l, it usually accounts for real iron excess and is coined as dysmetabolic iron overload syndrome (DIOS). The diagnosis of DIOS is mainly made in middle-aged ... ...

    Abstract Mild hyperferritinemia is frequent in patients with metabolic syndrome. When exceeding 500 pg/l, it usually accounts for real iron excess and is coined as dysmetabolic iron overload syndrome (DIOS). The diagnosis of DIOS is mainly made in middle-aged males. It relies upon the demonstration of hepatic iron overload by liver biopsy or MR. Iron excess is located not only within the liver but also within the spleen and visceral adipous tissue. Adipocytic iron is involved in maintaining or worsening insulin resistance. However, there is no definite proof of a short-term effect of iron removal by phlebotomy on glucose and insulin metabolism. Sustained modification of lifestyle and diet currently remains the only indisputable therapy in DIOS.
    MeSH term(s) Diet ; Humans ; Insulin Resistance/physiology ; Iron Overload/physiopathology ; Iron Overload/therapy ; Life Style ; Metabolic Syndrome/physiopathology
    Language English
    Publishing date 2016-02
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 213227-8
    ISSN 0001-4079
    ISSN 0001-4079
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  9. Article: Questions au Professeur Yves Deugnier.

    Deugnier, Yves

    Gastroenterologie clinique et biologique

    2003  Volume 27, Issue 8-9, Page(s) 814–816

    Title translation Interview: questions to professor Yves Deugnier.
    MeSH term(s) Fatty Liver/complications ; Fatty Liver/diagnosis ; Fatty Liver/therapy ; Hepatitis/complications ; Hepatitis/diagnosis ; Hepatitis/therapy ; Humans
    Language French
    Publishing date 2003-08
    Publishing country France
    Document type Interview
    ZDB-ID 752002-5
    ISSN 0399-8320
    ISSN 0399-8320
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  10. Article ; Online: Haemochromatosis.

    Powell, Lawrie W / Seckington, Rebecca C / Deugnier, Yves

    Lancet (London, England)

    2016  Volume 388, Issue 10045, Page(s) 706–716

    Abstract: Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to increase in intestinal absorption and ... ...

    Abstract Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to increase in intestinal absorption and deposition of excessive amounts of iron in parenchymal cells which in turn results in eventual tissue damage and organ failure. A clinical enigma has been the variable clinical expression with some patients presenting with hepatic cirrhosis at a young age and others almost asymptomatic for life. Research is unravelling this puzzle by identifying environmental factors-especially alcohol consumption-and associated modifying genes that modulate phenotypic expression. A high index of suspicion is required for early diagnosis but this can lead to presymptomatic therapy and a normal life expectancy. Venesection (phlebotomy) therapy remains the mainstay of therapy, but alternative therapies are the subject of current research.
    MeSH term(s) Alcohol Drinking/adverse effects ; Cation Transport Proteins/genetics ; Disease Management ; Environmental Exposure ; Europe/epidemiology ; European Continental Ancestry Group/genetics ; Ferritins/blood ; Genetic Testing ; Genotype ; Hemochromatosis/diagnosis ; Hemochromatosis/genetics ; Hemochromatosis/physiopathology ; Hemochromatosis/therapy ; Hemochromatosis Protein ; Hepcidins/deficiency ; Histocompatibility Antigens Class I/genetics ; Humans ; Iron/metabolism ; Liver/drug effects ; Liver/metabolism ; Liver Diseases/etiology ; Liver Diseases/physiopathology ; Liver Diseases/therapy ; Mass Screening/methods ; Mass Screening/standards ; Membrane Proteins/genetics ; Mutation ; Phenotype ; Phlebotomy ; Polymorphism, Single Nucleotide ; Receptors, Transferrin/genetics ; Risk Factors ; Sex Factors ; Uncertainty
    Chemical Substances Cation Transport Proteins ; HFE protein, human ; Hemochromatosis Protein ; Hepcidins ; Histocompatibility Antigens Class I ; Membrane Proteins ; Receptors, Transferrin ; TFR2 protein, human ; metal transporting protein 1 ; Ferritins (9007-73-2) ; Iron (E1UOL152H7)
    Language English
    Publishing date 2016-08-13
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 3306-6
    ISSN 1474-547X ; 0023-7507 ; 0140-6736
    ISSN (online) 1474-547X
    ISSN 0023-7507 ; 0140-6736
    DOI 10.1016/S0140-6736(15)01315-X
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