3 results on '"the nursing staff"'
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2. Reduced phenotypic expression in genetic hemochromatosis with time: Role of exposure to non-genetic modifiers
- Author
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Romain Moirand, Yves Deugnier, Dominique Guyader, Anne-Sophie Bollard, Jeff Morcet, Houda Hamdi-Rozé, Edouard Bardou-Jacquet, Fabrice Lainé, Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], The authors would like to thank all medical doctors from the Liver Unit in Rennes for allowing them to include their patients in the present study, the nursing staff for the daily care of the patients, Michèle Perrin for keeping track of patient records and maintaining the database, Béatrice Leclerc for managing the administration and organizing family screening procedures, and Stuart Byrom (Direction de la Recherche et de l'Innovation, CHU de Rennes) for reviewing the English version of the manuscript., and Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM)
- Subjects
0301 basic medicine ,Male ,[SDV]Life Sciences [q-bio] ,DNA Mutational Analysis ,Physiology ,Overweight ,tobacco ,0302 clinical medicine ,Medicine ,Prospective Studies ,Child ,Aged, 80 and over ,education.field_of_study ,biology ,medicine.diagnostic_test ,alcohol ,HFE Hemochromatosis ,Middle Aged ,Penetrance ,3. Good health ,Phenotype ,Child, Preschool ,030211 gastroenterology & hepatology ,Female ,Hemochromatosis ,medicine.symptom ,Adult ,Adolescent ,Genotype ,Population ,03 medical and health sciences ,BMI ,Young Adult ,Hepcidin ,Diabetes mellitus ,evolution over time ,Humans ,Genetic Testing ,education ,Hemochromatosis Protein ,Genetic testing ,Aged ,Retrospective Studies ,Hepatology ,business.industry ,Transferrin saturation ,Infant, Newborn ,Infant ,DNA ,medicine.disease ,030104 developmental biology ,Mutation ,biology.protein ,business ,Follow-Up Studies - Abstract
International audience; Background & aims - Genetic hemochromatosis is mainly related to the homozygous p.Cys282Tyr (C282Y) mutation in the HFE gene, which causes hepcidin deficiency. Its low penetrance suggests the involvement of cofactors that modulate its expression. We aimed to describe the evolution of disease presentation and of non-genetic factors liable to impact hepcidin production in the long term. Methods - Clinical symptoms, markers of iron load, and risk factors according to the year of diagnosis were recorded over 30 years in a cohort of adult C282Y homozygotes. A total of 2,050 patients (1,460 probands [804 males and 656 females] and 542 relatives [244 males and 346 females]) were studied. Results - Over time: (i) the proband-to-relative ratio remained roughly stable; (ii) the gender ratio tended towards equilibrium among probands; (iii) age at diagnosis did not change among males and increased among females; (iv) the frequency of diabetes and hepatic fibrosis steadily decreased while that of chronic fatigue and distal joint symptoms remained stable; (v) transferrin saturation, serum ferritin and the amount of iron removed decreased; and (vi) the prevalence of excessive alcohol consumption decreased while that of patients who were overweight increased. Tobacco smoking was associated with increased transferrin saturation. Conclusion - Genetic testing did not alter the age at diagnosis, which contrasts with the dramatic decrease in iron load in both genders. Tobacco smoking could be involved in the extent of iron loading. Besides HFE testing, which enables the diagnosis of minor forms of the disease, the reduction of alcohol consumption and the increased frequency of overweight patients may have played a role in the decreased long-term iron load, as these factors are likely to improve hepcidin production. Lay summary - Genetic hemochromatosis is an inherited disorder that leads to progressive iron overload in the body. It results in chronic fatigue and in potential liver (cirrhosis), pancreas (diabetes) and joint (arthritis) damage in adulthood. The present study showed that tobacco smoking may aggravate iron loading, but that hemochromatosis has become less and less severe over the last 30 years despite patients being older at diagnosis, likely because of the protective effects of lower alcohol consumption and of increased weight in the French population.
- Published
- 2018
3. Decreased iron burden in overweight C282Y homozygous women: Putative role of increased hepcidin production
- Author
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Romain Desgrippes, Edouard Bardou-Jacquet, Fabrice Lainé, Michèle Perrin, Martine Ropert, Ghislain Manet, Yves Deugnier, Caroline Jezequel, Jeff Morcet, Service des Maladies de l'Appareil Digestif [CHU Rennes], CHU Pontchaillou [Rennes], fer et métabolismes, Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Fer et Métabolismes, Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM)-Service des Maladies de l'Appareil Digestif [CHU Rennes], CHU Pontchaillou [Rennes]-CHU Pontchaillou [Rennes], Laboratoire de biochimie spécialisée, Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Foie, métabolismes et cancer, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Liver Unit of Rennes, the nursing staff, Beatrice Leclerc, Centre de, Lecoupe-Grainville, Marie, Service des Maladies de l'Appareil Digestif, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM)-Service des Maladies de l'Appareil Digestif, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes]-CHU Pontchaillou [Rennes], and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
- Subjects
Male ,Comorbidity ,Overweight ,Body Mass Index ,Cohort Studies ,0302 clinical medicine ,Phlebotomy ,2. Zero hunger ,chemistry.chemical_classification ,0303 health sciences ,biology ,Homozygote ,Transferrin ,Middle Aged ,3. Good health ,030220 oncology & carcinogenesis ,Female ,Hemochromatosis ,medicine.symptom ,Adult ,medicine.medical_specialty ,Iron ,03 medical and health sciences ,Insulin resistance ,Hepcidins ,Hepcidin ,Internal medicine ,medicine ,Humans ,Hemochromatosis Protein ,Retrospective Studies ,030304 developmental biology ,Hepatology ,Transferrin saturation ,business.industry ,Histocompatibility Antigens Class I ,Membrane Proteins ,nutritional and metabolic diseases ,[SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology ,medicine.disease ,[SDV.MHEP.HEG] Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology ,Endocrinology ,chemistry ,Case-Control Studies ,Ferritins ,Multivariate Analysis ,biology.protein ,Insulin Resistance ,business ,Body mass index ,Antimicrobial Cationic Peptides - Abstract
International audience; An excess of visceral adipose tissue could be involved as a modulator of the penetrance of HFE hemochromatosis since fat mass is associated with overexpression of hepcidin and low transferrin saturation was found to be associated with being overweight in women. This study was aimed at assessing the relationship between body mass index (BMI), a surrogate marker of insulin resistance, and iron burden in HFE hemochromatosis. In all, 877 patients from a cohort of C282Y homozygotes were included in the study when BMI at diagnosis and amount of iron removed (AIR) by phlebotomy were available. No relationship between AIR and BMI was found in men, whereas 15.1% (52/345) of women with AIR
- Published
- 2013
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