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1. The 10th Santorini conference: Systems medicine, personalised health and therapy. 'The odyssey from hope to practice: Patient first. Keep Ithaca always in your mind', Santorini, Greece, 23–26 May 2022

Author: Sophie Visvikis-Siest, Maria G. Stathopoulou, Raute Sunder-Plassmann, Behrooz Z. Alizadeh, Robert Barouki, Ekaterina Chatzaki, Georges Dagher, George Dedoussis, Panagiotis Deloukas, Alexander Haliassos, Brigitte Boisson Hiegel, Vangelis Manolopoulos, Christine Masson, Guillaume Paré, Markus Paulmichl, Alexandros M. Petrelis, Csilla Sipeky, Belgin Süsleyici, Georges Weryha, Alex Chenchik, Paul Diehl, Robin E. Everts, Alexander Haushofer, John Lamont, Ruth Mercado, Heiko Meyer, Herna Munoz-Galeano, Helena Murray, Ferrier Nhat, Charity Nofziger, Wolfgang Schnitzel, and Stavroula Kanoni
Subjects: systems medicine, personalized medicine, pharmacogenomics, medical diagnostic, cancer, heart inflammation, Genetics, QH426-470
Published: 2023
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2. Subacute Thyroiditis Revealing a Pheochromocytoma

Author: Furmaniuk, Anna, Demarquet, Lea, Klein, Marc, Weryha, Georges, and Feigerlova, Eva
Published: 2016
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3. Immune check point inhibitors-induced hypophysitis: a retrospective analysis of the French Pharmacovigilance database

Author: Garon-Czmil, Julie, Petitpain, Nadine, Rouby, Franck, Sassier, Marion, Babai, Samy, Yéléhé-Okouma, Mélissa, Weryha, Georges, Klein, Marc, and Gillet, Pierre
Published: 2019
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4. The 10th Santorini conference: Systems medicine, personalised health and therapy. “The odyssey from hope to practice: Patient first. Keep Ithaca always in your mind”, santorini, Greece, 23–26 May 2022

Author: Visvikis-Siest, Sophie, primary, Stathopoulou, Maria G., additional, Sunder-Plassmann, Raute, additional, Alizadeh, Behrooz Z., additional, Barouki, Robert, additional, Chatzaki, Ekaterina, additional, Dagher, Georges, additional, Dedoussis, George, additional, Deloukas, Panagiotis, additional, Haliassos, Alexander, additional, Hiegel, Brigitte Boisson, additional, Manolopoulos, Vangelis, additional, Masson, Christine, additional, Paré, Guillaume, additional, Paulmichl, Markus, additional, Petrelis, Alexandros M., additional, Sipeky, Csilla, additional, Süsleyici, Belgin, additional, Weryha, Georges, additional, Chenchik, Alex, additional, Diehl, Paul, additional, Everts, Robin E., additional, Haushofer, Alexander, additional, Lamont, John, additional, Mercado, Ruth, additional, Meyer, Heiko, additional, Munoz-Galeano, Herna, additional, Murray, Helena, additional, Nhat, Ferrier, additional, Nofziger, Charity, additional, Schnitzel, Wolfgang, additional, and Kanoni, Stavroula, additional
Published: 2023
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5. Long-Term Quality of Life and Pregnancy Outcomes of Differentiated Thyroid Cancer Survivors Treated by Total Thyroidectomy and I131 during Adolescence and Young Adulthood

Author: Melanie Metallo, Lelia Groza, Laurent Brunaud, Marc Klein, Georges Weryha, and Eva Feigerlova
Subjects: Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract: Introduction. Differentiated thyroid cancer (DTC) is rare and confers good prognosis. Long-term health related quality of life (HRQoL) and pregnancy outcomes are not well known in subjects treated during adolescence and young adulthood. Methods. Cross-sectional analysis of HRQoL and global self-esteem, using SF-36 and ISP-25 surveys, and of pregnancy outcomes in female survivors of DTC treated by total thyroidectomy and I131 before age of 25 years. Results. Forty-five of 61 patients (74%) responded to the survey. Cumulative I131 activity was ≤3.85 GBq in 18 subjects and >3.85 GBq in 27 subjects. Mean time from diagnosis was 7.6 ± 5.2 years for the group ≤ 3.85 GBq versus 16.9 ± 11.6 years for the group > 3.85 GBq (P 3.85 GBq and 10 in patients from the group ≤ 3.85 GBq. Frequency of miscarriages was of 17% (group > 3.85 GBq) and 10% (group ≤ 3.85 GBq) with 9 and 24 live births, respectively. No congenital malformations or first year mortality was noted. Conclusion. Long-term HRQoL, global self-esteem, and pregnancy outcomes are not affected in young female survivors of DTC.
Published: 2016
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6. Fracture Risks Related to Parity and Breastfeeding Effect in Post-Menopausal Women Aged Sixty and Over: Results from the 'Quality of Bone in Lorraine' Register

Author: M. Agopiantz, A. Sarr, Michel Assane Ndour, Demba Diedhiou, Georges Weryha, Cédric Baumann, Olivier Morel, and Marc Klein
Subjects: education.field_of_study, medicine.medical_specialty, Pregnancy, Obstetrics, business.industry, Population, Breastfeeding, General Medicine, Bone fracture, medicine.disease, Menopause, medicine, Menarche, Family history, education, business, Parity (mathematics)
Abstract: Introduction: The long term effect of accumulation of genital events as repeated pregnancy and longer breastfeeding in bone heath later in women’s life is still disputed. The objective was to assess the impact of parity and cumulated duration of breastfeeding on fracture risk in post-menopausal women aged sixty an over. Patients and Methods: It was a leading study from the register “Quality of Bone in Lorraine (QBL)” achieved in the department of endocrinology and osteoporotic disease of Nancy (France). This register included all patients sent for an assessment of the bone mass density from January 1, 2006 to December 31, 2014 (9 years). It was about post-menopausal women aged sixty an over suffering or not from osteoporosis fracture or bone fragility just after the age of 45. The genital events of patients to their age (from puberty to menopause) as well as the existence of hormone replacement therapy use, parity, and breastfeeding duration were taken into account. The assessment of bone fracture was clinical, radiological or by using the vertebral fracture assessment method. Results: 861 post-menopausal women were included. In comparison to the control group, the fractured population had a mean age of (74.3 ± 9 vs. 72 ± 8 years), a family history of fracture (32.1% vs. 26%), and an average input of calcium (2.4 ± 1 vs. 2.3 ± 0 portions per day). The age at menarche was of 12.8 ± 1 years in each group, a mean genital activity duration of (36.8 ± 3 vs. 37.2 ± 3 years), a parity of (2.1 ± 1 vs. 1.8 ± 1 children), a cumulated breastfeeding duration (4.2 ± 16 vs. 3.1 ± 5 months) and an age of menopause of (48.6 ± 4 vs. 48.6 ± 4 years) were respectively found in fractured and witness population. Overall, an osteoporotic fracture has been rediscovered in 50.9%. In multivariate analysis, only a cumulative duration of breastfeeding of 6 months and over was associated with a higher fracture risk (OR = 1.5 [1.1 - 2.2]). The impact of parity was not significant (OR = 1.1 [0.7 - 1.8]). Association with obesity was quasi significant (OR = 1.3 [0.9 - 1.9]). There was no correlation between the fracture risk and the genital activity duration (OR = 0.7 [0.5 - 1.0]), hormone replacement therapy use (OR = 1.0 [0.8 - 1.4]), daily calcium input (OR = 0.8 [0.6 - 1.3]), and age of menarche (OR = 1.0 [0.9 - 1.1]). Conclusion: This work confirms a negative impact from 6 months of cumulative breastfeeding. The modest effects observed may be related to the selection of Caucasian patients who live in an economically developed country with a limited number of pregnancies and limited duration of breastfeeding.
Published: 2020
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7. X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

Author: Elodie Fiot, Delphine Zénaty, Priscilla Boizeau, Jérémie Haignere, Sophie Dos Santos, Juliane Léger, J C Carel, S Cabrol, P Chanson, S Christin-Maitre, C Courtillot, B Donadille, J Dulon, M Houang, M Nedelcu, I Netchine, M Polak, S Salenave, D Samara-Boustani, D Simon, P Touraine, M Viaud, H Bony, K Braun, R Desailloud, A M Bertrand, B Mignot, F Schillo, P Barat, V Kerlan, C Metz, E Sonnet, Y Reznik, V Ribault, H Carla, I Tauveron, C Bensignor, F Huet, B Verges, O Chabre, C Dupuis, A Spiteri, M Cartigny, C Stuckens, J Weill, A Lienhardt, C Naud-Saudreau, F Borson-Chazot, A Brac de la Perriere, M Pugeat, T Brue, R Reynaud, G Simonin, F Paris, C Sultan, B Leheup, G Weryha, S Baron, B Charbonnel, S Dubourdieu, E Baechler, P Fenichel, K Wagner, F Compain, H Crosnier, C Personnier, B Delemer, A C Hecart, P F Souchon, M De Kerdanet, F Galland, S Nivot-Adamiak, M Castanet, C Lecointre, O Richard, N Jeandidier, S Soskin, P Lecomte, M Pepin-Donat, P Pierre, Centre de Référence des Maladies Endocriniennes Rares de la Croissance [APHP Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Cité (UPCité), Service de pédiatrie générale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables (ECEVE (U1123 / UMR_S_1123)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - École de sages-femmes Baudelocque (UPD ESF Baudelocque), Université Paris Descartes - Paris 5 (UPD5), Hôpital Robert Debré, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), French Turner Syndrome Study Group, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Amiens-Picardie, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Nutrition et Neurobiologie intégrée (NutriNeuro), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1 (UB)-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Service d'Endocrinologie (CHRU - Endocrino), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service d'endocrinologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Unité de nutrition et métabolisme protéique, Institut National de la Recherche Agronomique (INRA), Lipides - Nutrition - Cancer (U866) (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA), Service d'Endocrinologie (GRENOBLE - Endocrino), CHU Grenoble, Department of Geology and Applied Geology, University of Mons [Belgium] (UMONS), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), European Organization for Nuclear Research (CERN), Service d'Endocrinologie - Diabète - Nutrition [Reims], Université de Reims Champagne-Ardenne (URCA)-Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Centre d'Immunologie de Marseille - Luminy (CIML), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Différenciation et communication neuronale et neuroendocrine (DC2N), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Rouen University Hospital, Laboratoire d'ingénierie circulation transports (LICIT), Institut National de Recherche sur les Transports et leur Sécurité (INRETS)-École Nationale des Travaux Publics de l'État (ENTPE), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université de Paris (UP), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Eq 4, Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-Centre de médecine nucléaire, Fédération d'endocrinologie-Groupement hospitalier Lyon-Est-Fédération d'endocrinologie-Groupement hospitalier Lyon-Est, Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université de Paris, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris]-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP Hôpital universitaire Robert-Debré [Paris], École de sages-femmes Baudelocque (ESF Baudelocque), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris, Laboratoire de Physique Corpusculaire - Clermont-Ferrand (LPC), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire d'Amiens (CHU Amiens-Picardie), Hôpital Jean Minjoz, Nutrition et Neurobiologie intégrée (NutriNeur0), Ecole nationale supérieure de chimie, biologie et physique-Institut Polytechnique de Bordeaux-Université Sciences et Technologies - Bordeaux 1-Institut National de la Recherche Agronomique (INRA)-Université Bordeaux Segalen - Bordeaux 2, Université de Brest (UBO), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre de recherche de Cancérologie et d'Immunologie / Nantes - Angers (CRCINA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Grand Accélérateur National d'Ions Lourds (GANIL), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Cité (UPC), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC)
Subjects: Adult, Heart Defects, Congenital, medicine.medical_specialty, Pediatrics, Adolescent, Endocrinology, Diabetes and Metabolism, Karyotype, Ring chromosome, Gene Dosage, Turner Syndrome, 030209 endocrinology & metabolism, Comorbidity, Type 2 diabetes, Kidney, Y chromosome, Congenital Abnormalities, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Risk Factors, Internal medicine, Turner syndrome, MESH: Chromosome, Human, X/genetics, Congenital Abnormalities/genetics, Kidney Diseases/epidemiology, Turner Syndrome/genetics, medicine, Humans, Cumulative incidence, Child, 030223 otorhinolaryngology, X chromosome, Retrospective Studies, Chromosomes, Human, X, [SDV.GEN]Life Sciences [q-bio]/Genetics, Mosaicism, business.industry, Age Factors, Retrospective cohort study, General Medicine, medicine.disease, 3. Good health, Female, Kidney Diseases, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: ObjectiveTurner Syndrome is associated with several phenotypic conditions associated with a higher risk of subsequent comorbidity. We aimed to evaluate the prevalence of congenital malformations and the occurrence of age-related comorbid conditions and to determine whether the frequencies of congenital and acquired conditions depend on X chromosome gene dosage, as a function of karyotype subgroup.Design and methodsThis national retrospective observational cohort study includes 1501 patients. We evaluated the prevalence of congenital malformations and the cumulative incidence of subsequent specific comorbidities at five-year intervals, from the ages of 10 to 30 years, with stratification by karyotype subgroup: 45,X (n = 549), 45,X/46,isoXq (n = 280), 46,X,r(X)/46,XX (n = 106), 45,X/46,XX (n = 221), presence of Y (n = 87).ResultsMedian age was 9.4 (3.7–13.7) years at first evaluation and 16.8 (11.2–21.4) years at last evaluation. Congenital heart (18.9%) malformations were more frequent in 45,X patients, and congenital renal (17.2%) malformations were more frequent in 45,X, 45,X/46,isoXq and 46,X,r(X)/46,XX patients than in those with 45,X/46,XX mosaicism or a Y chromosome (P ConclusionThese data suggest that X gene chromosome dosage, particularly for Xp genes, contributes to the risk of developing comorbidities.
Published: 2019
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8. Frailty, osteoporosis and hip fracture: Causes, consequences and therapeutic perspectives

Author: Rolland, Y., van Kan, G.Abellan, Benetos, A., Blain, H., Bonnefoy, M., Chassagne, P., Jeandel, C., Laroche, M., Nourhashemi, F., Orcel, P., Piette, F., Ribot, C., Ritz, P., Roux, C., Taillandier, J., Tremollieres, F., Weryha, G., and Vellas, B.
Published: 2008
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9. 8th Santorini Conference: Systems medicine and personalized health and therapy, Santorini, Greece, 3-5 October 2016

Author: Visvikis-Siest, Sophie, Aldasoro Arguinano, Alex-Ander, Stathopoulou, Maria, Xie, Ting, Petrelis, Alexandros, Weryha, Georges, Froguel, Philippe, Meier-Abt, Peter, Meyer, Urs A., Mlakar, Vid, Ansari, Marc, Papassotiropoulos, Andreas, Dedoussis, Georges, Pan, Baishen, Bühlmann, Roland P., Noyer-Weidner, Mario, Dietrich, Pierre-Yves, Van Schaik, Ron, Innocenti, Federico, März, Winfried, Bekris, Lynn M., Deloukas, Panos, Visvikis-Siest, Sophie, Aldasoro Arguinano, Alex-Ander, Stathopoulou, Maria, Xie, Ting, Petrelis, Alexandros, Weryha, Georges, Froguel, Philippe, Meier-Abt, Peter, Meyer, Urs A., Mlakar, Vid, Ansari, Marc, Papassotiropoulos, Andreas, Dedoussis, Georges, Pan, Baishen, Bühlmann, Roland P., Noyer-Weidner, Mario, Dietrich, Pierre-Yves, Van Schaik, Ron, Innocenti, Federico, März, Winfried, Bekris, Lynn M., and Deloukas, Panos
Published: 2021

10. The Peroxisome Proliferator–Activated Receptor γ Agonist Pioglitazone Preserves Bone Microarchitecture in Experimental Arthritis by Reducing the Interleukin-17–Dependent Osteoclastogenic Pathway

Author: Koufany, Meriem, Chappard, Daniel, Netter, Patrick, Bastien, Claire, Weryha, Georges, Jouzeau, Jean-Yves, and Moulin, David
Published: 2013
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11. P2.56 EFFECTS OF LEAN AND FAT MASS ON BONE MINERAL DENSITY AND ARTERIAL STIFFNESS IN ELDERLY MEN

Author: A. Kearney-Schwartz, A. Zervoudaki, P. Salvi, C. Labat, G. Weryha, and A. Benetos
Subjects: Specialties of internal medicine, RC581-951, Diseases of the circulatory (Cardiovascular) system, RC666-701
Published: 2008
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12. Impact of Parity on Fracture Risk after Menopause: A Systematic Review

Author: Georges Weryha
Subjects: Fracture risk, Menopause, medicine.medical_specialty, Obstetrics, business.industry, medicine, Parity (physics), business, medicine.disease
Published: 2017
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13. A transnational collaborative network dedicated to the study and applications of the vascular endothelial growth factor-A in medical practice: the VEGF Consortium

Author: George Dedoussis, Jochen G. Schneider, Sudha Seshadri, Mary Jo Kurth, Alex Ander Aldasoro Arguinano, Daniela Ruggiero, Georges Dagher, Marina Ciullo, Ting Xie, Vesna Gorenjak, Panagiotis Deloukas, Sophie Visvikis-Siest, Federico Innocenti, Jérôme Chatelin, George Weryha, Janja Marc, Behrooz Z. Alizadeh, John Victor Lamont, Marc Rancier, Maria G. Stathopoulou, Alexandros M. Petrelis, Jean-Louis Merlin, Maurizio Simmaco, Ron H.N. van Schaik, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Life Course Epidemiology (LCE), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), Dietetics and Nutrition, Harokopio University of Athens, Department of Nutrition-Dietetics, Randox Laboratories, 2nd Faculty of Medicine, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Institut de Cancérologie de Lorraine - Alexis Vautrin [Nancy] (UNICANCER/ICL), UNICANCER, Centre de Recherche en Automatique de Nancy (CRAN), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Institute of Genetics and Biophysics, CNR, Naples, Neurology Department, Boston University School of Medicine (BUSM), Boston University [Boston] (BU)-Boston University [Boston] (BU), Interactions Gène-Environnement en Physiopathologie Cardio-Vasculaire (IGE-PCV), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)
Subjects: Vascular Endothelial Growth Factor A, 0301 basic medicine, Oncology, medicine.medical_specialty, Biomedical Research, Systems Analysis, International Cooperation, [SDV]Life Sciences [q-bio], Collaborative network, Clinical Biochemistry, Population, MEDLINE, [SDV.CAN]Life Sciences [q-bio]/Cancer, Bioinformatics, VEGF-A, AUTOIMMUNE THYROID-DISEASES, 03 medical and health sciences, DESIGN, collaborative network, multidisciplinary genomic studies, personalized medicine, Internal medicine, Humans, Medicine, COHORT, Precision Medicine, education, ComputingMilieux_MISCELLANEOUS, POPULATION, education.field_of_study, PLASMA, business.industry, Biochemistry (medical), Medical practice, General Medicine, Precision medicine, 3. Good health, Vascular endothelial growth factor A, 030104 developmental biology, Cohort, Personalized medicine, BONE, business
Abstract: International audience
Published: 2017
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14. Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Author: Nicolas Richard, Martin Kaufmann, Arnaud Wiedemann, Marie-Laure Kottler, Arthur Sorlin, Nick Demers, François Feillet, Georges Weryha, Hervé Mittre, Nadia Coudray, Jérémy Do Cao, Genevieve Abeguile, Brigitte Dousset, Arnaud Molin, Laurent Mainard, Glenville Jones, and Pierre Journeau
Subjects: 0301 basic medicine, Vitamin, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Rickets, medicine.disease_cause, vitamin D deficiency, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, CYP24A1, Internal medicine, medicine, Vitamin D and neurology, Orthopedics and Sports Medicine, Mutation, business.industry, Alfacalcidol, medicine.disease, 3. Good health, 030104 developmental biology, Endocrinology, chemistry, Calcifediol, business
Abstract: Vitamin D requires a two-step activation by hydroxylation: The first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2) and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of 1,25-(OH)2 D. Mutations of CYP2R1 have been associated with vitamin D-dependent rickets type 1B (VDDR1B), a very rare condition that has only been reported to affect 4 families to date. We describe 7 patients from 2 unrelated families who presented with homozygous loss-of-function mutations of CYP2R1. Heterozygous mutations were present in their normal parents. We identified a new c.124_138delinsCGG (p.Gly42_Leu46delinsArg) variation and the previously published c.296T>C (p.Leu99Pro) mutation. Functional in vitro studies confirmed loss-of-function enzymatic activity in both cases. We discuss the difficulties in establishing the correct diagnosis and the specific biochemical pattern, namely, very low 25-OH-D suggestive of classical vitamin D deficiency, in the face of normal/high concentrations of 1,25-(OH)2 D. Siblings exhibited the three stages of rickets based on biochemical and radiographic findings. Interestingly, adult patients were able to maintain normal mineral metabolism without vitamin D supplementation. One index case presented with a partial improvement with 1alfa-hydroxyvitamin D3 or alfacalcidol (1α-OH-D3 ) treatment, and we observed a dramatic increase in the 1,25-(OH)2 D serum concentration, which indicated the role of accessory 25-hydroxylase enzymes. Lastly, in patients who received calcifediol (25-OH-D3 ), we documented normal 24-hydroxylase activity (CYP24A1). For the first time, and according to the concept of personalized medicine, we demonstrate dramatic improvements in patients who were given 25-OH-D therapy (clinical symptoms, biochemical data, and bone densitometry). In conclusion, the current study further expands the CYP2R1 mutation spectrum. We note that VDDR1B could be easily mistaken for classical vitamin D deficiency. © 2017 American Society for Bone and Mineral Research.
Published: 2017
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15. Odanacatib for the treatment of postmenopausal osteoporosis: results of the LOFT multicentre, randomised, double-blind, placebo-controlled trial and LOFT Extension study

Author: Michael R McClung, Michelle L O'Donoghue, Socrates E Papapoulos, Henry Bone, Bente Langdahl, Kenneth G Saag, Ian R Reid, Douglas P Kiel, Ilaria Cavallari, Marc P Bonaca, Stephen D Wiviott, Tobias de Villiers, Xu Ling, Kurt Lippuner, Toshitaka Nakamura, Jean-Yves Reginster, Jose Adolfo Rodriguez-Portales, Christian Roux, José Zanchetta, Cristiano A F Zerbini, Jeong-Gun Park, KyungAh Im, Abby Cange, Laura T Grip, Norman Heyden, Carolyn DaSilva, Dosinda Cohn, Rachid Massaad, Boyd B Scott, Nadia Verbruggen, Deborah Gurner, Deborah L Miller, Micki L Blair, Adam B Polis, S Aubrey Stoch, Arthur Santora, Antonio Lombardi, Albert T Leung, Keith D Kaufman, Marc S Sabatine, Carlos Alfredo Mautalén, Zulema Man, Jose Ruben Zanchetta, Clelia Haydee Magaril, Philip Sambrook, Piet Geusens, Stefan Goemaere, Ben Hur Albergaria, Cristiano Augusto de Freitas Zerbini, Marise Lazaretti Castro, Luiz Henrique Gregorio, Rumen Stoilov, Anna-Maria I Borissova, Kiril Hristov Hristozov, Nataliya L Temelkova, Ivona Kirilova Daskalova, Stefka Ivanova Kuzmanova, Daniela Yaneva-Bichovska, Anastas Zgurov Batalov, Pablo Riedemann, José Adolfo Rodriguez Portales, Hai Tang, hanmin Zhu, Zhenlin Zhang, Aijun Chao, Yali Hu, Zhiming Liu, Juming Lu, Mingcai Qiu, Xin Gao, Shaofen Zhang, Ling Xu, Weibo Xia, Eryuan Liao, Wenying Yang, Wen Wu, Kerong Dai, Renming Hu, Juan Jose Jaller, Francisco Cabal, José Fernando Molina, Carlos A Cure Cure, Hernan Yupanqui-Lozno, Philippe Chalem, John Londono, Mauricio Abello, Edgardo D Tobias, William Otero, Tatjana Nikolic, Blazenka Miskic, Jan Stepan, Vaclav Vyskocil, Libor Novosad, Jan Slesinger, Pavel Novosad, Erika Vlckova, Ladislav Bortlik, Eva Dokoupilova, Tomas Hala, Jens-Erik Beck Jensen, Kim Torsten Brixen, Bente Lomholt Langdahl, Peter Schwarz, Peter Claes Eskildsen, Pia Agnete Eiken, Anne Pernille Hermann, Jeppe Gram, Maiken Brix Schou, Peter Alexandersen, Bettina Nedergaard, Dolores Magdalena Mejía, Lourdes Estrella De Henriquez, Norka Páez, Casimiro Velazco, Ivo Valter, Kadri-Liina Vahula, Ingrid Kull, Katre Maasalu, Roland Chapurlat, Patrice Fardellone, Claude Laurent Benhamou, Georges Weryha, Volkmar Herkt, Rene Martz, Ruth Nischik, Wolfgang Spieler, Christel Contzen, Dieter Felsenberg, Isolde Frieling, Eike Frahm, Henry Briones, Boris Sandoval, Patricia Barrios, Abraham García, Carlos Avendaño, Magdalena González, Jeremías Guerra, Maria Tuna, Olga Marina Díaz, Eduardo Samayoa, Edgar López, José Raúl Barrera, Mainor Palencia, Mayra Cifuentes, Georgina Alvarado, Miriam López, Nilmo Chavez, Franklin Haase, Ruddy Rivera, Claudio González, Kathryn Tan, Ping Chung Leung, Sheshadri Mandalam, Shailesh Umakant Pitale, Ganapathi Bantwal, Ariachery Chinamma Ammini, Shehla Sajid Akhta Shaikh, Prasanna Kumar Kanakatte Mylariah, Mala Dharmalingam, Satinath Mukhopadhyay, Arpit Jain, Parminder Singh, Naresh Shetty, Srikanta Shamanna Sathyanarayana, Nalini Shah, Manoj Dharam Chadha, Rajendra Bhandankar, Kumaravel Velayutham, Sudha Marwah, Mathew John, Rakesh Kumar Sahay, Silvano Adami, Ranuccio Nuti, Gerolamo Bianchi, Maria Luisa Brandi, Salvatore Minisola, Carmelo Erio Fiore, Alessandro Rubinacci, Hisayuki Miyajima, Hiroo Yamane, Yuji Nakatani, Sumiaki Okamoto, Koji Kuroda, Motoaki Fujimori, Akira Itabashi, Kuniaki Katayama, Satoru Nakajo, Yoshiaki Somekawa, Yoshimitsu Ohsawa, Wataru Tajima, Katsunori Mizuno, Shigeru Mori, Takato Kanabuchi, Hiroyuki Hashizume, Nobuyuki Oka, Kazutoshi Hamada, Motoi Yamaguchi, Fumiki Hirahara, Masaaki Atobe, Yoshiharu Ohtake, Shuichi Ichikawa, Tomoyuki Onishi, Kou Matsumoto, Tetsuro Nakamura, Eishi Shirasawa, Ko Katayama, Mitsugu Takahashi, Tadanori Oguma, Hideo Matsui, Yoshiharu Katoh, Keiichi Shigenobu, Tsutomu Onishi, Masato Shibukawa, Satoshi Ikeda, Kazuhiro Osaka, Ryosuke Kanda, Yoshito Inobe, Masaharu Shigenobu, Morimasa Hasegawa, Tetsuo Yamaji, Yu Miyazaki, Takayasu Ito, Eisuke Nakamura, Shinji Nagai, Sung-Kil Lim, Yoon-Sok Chung, Chan-Soo Shin, Yong-Ki Min, Ghi Su Kim, Hyun Koo Yoon, Moo-Il Kang, Kyu-Hyun Yang, Hyoung Moo Park, In Joo Kim, Dong Jin Chung, Ho Yeon Chung, Sandra Jaundzeikare, Dace Andersone, Agita Medne, Yasser Yaghi, Vidmantas Alekna, Vytautas Kasiulevicius, Irina Purtokaite - Labutiniene, Aurelija Krasauskiene, Jurate Varanaviciene, Vida Basijokiene, Agne Abraitiene, Lina Radzeviciene, Jesus Walliser, Pedro Alberto García Hernández, Maria Frida Araujo, Hilario Ernesto Avila Armengol, Pilar De la Peña, Juan Tamayo, Beatriz Zazueta, Fidencio Cons, Nigel Leslie Gilchrist, Ian Reginald Reid, Robert Leikis, Peter Jones, Joe Gragrath Pradeep Singh, Johan Inge Halse, Unni Syversen, Hans Olav Høivik, Erik Snorre Øfjord, Hans Christian Gulseth, Sigbjørn Elle, Paal Dag Norheim, Armando A. Calvo Quiroz, Pastor A. Cesar Augusto, Manuel Gustavo León Portocarrero, Luis Fernando Vidal Neira, Jose Chavez, Boris Garro Barrera, Rita Kuroiwa Sampei, Bellatín V. Luis Fernando, Rogger Oquelis Cabredo, Sonia Castillo, Agustin Miguel G Morales, Perry Pua Tan, Liberato Antonio C Leagogo, Edward HM Wang, Julie T Li-Yu, Andrzej Z Sawicki, Barbara Stasiuk, Grzegorz Kania, Roman Lorenc, Anna Sidorowicz-Bialynicka, Leszek Szczepanski, Edward Franek, Rafal Filip, Jan Sekula, Tomasz Blicharski, Piotr Leszczynski, Ewa Sewerynek, Tomasz Miazgowski, Andrzej Milewicz, Magda Dabrowska, Jerzy Romaszko, Wojciech Pluskiewicz, Lukasz Wojnowski, Catalin Codreanu, Horatiu Bolosiu, Ruxandra Ionescu, Ioana Zosin, Liviu Macovei, Mihai Bojinca, Florin Radulescu, Simona Pop, Adrian Sarbu, Lidia I Benevolenskaya, Evgeny L Nasonov, Lyudmila Ya Rozhinskaya, Raphael G Oganov, Svetlana S Rodionova, Eugeny Vladimirovich Shlyakhto, Vasiliy Trofimov, Eugeny G Zotkin, Irina E Zazerskaya, Elena N Grineva, Olga Ershova, Olga Lesnyak, Olga D Ostroumova, Svetlana B Malichenko, Eduard G Pikhlak, Valery G Pilyaev, Tatiana Raskina, Elena V Zonova, Valery S Shirinsky, Aleksandar N Dimic, Goran Cobeljic, Svetlana Vujovic, Graham Charlston Ellis, Stanley Lipschitz, Tobias Johannes De Villiers, Albert Jan De Weerd, Tasneem Vally, Yvonne Trinder, Jacobus Ludewikus Coetsee, Charles Pierre Davis, Savithree Nayiager, Frans Stephanus Hough, Louis F Oelofse, Eugene van der Walt, Johannes Jurgens Lombaard, Suzanne Blignaut, Uttam Govind, Leon Frederik Fouche, Dawid Stephanus Kruger, Johannes Paul Dalmeyer, Mada M Ferreira, Alejandro Escudero-Contreras, Manuel Muñoz Torres, Federico Hawkins Carranza, Jose Luis Perez Castrillon, Juan Antonio García Meijide, Esteban Jodar Gimeno, Santiago Palacios Gil-Antuñana, Luis de Teresa Parreno, Emilio Martín Mola, Carmen Alvarez Sanchez, Keh-Sung Tsai, Shih-Te Tu, Jung-Fu Chen, Oscar Kuang-Sheng Lee, Wen-Wei Hsu, Natalia Viktorivna Grygorieva, Vladyslav Volodymyrovych Povoroznyuk, Mykola Oleksiiovych Korzh, Oleksandr Levgeniiovych Loskutov, Andriy Borysovych Chukov, Rex Sarmiento, Hawys Thomas, Hugh Donnachie, Irina Pavel-Knox, Hilary Shaw, Hana Hassanin, Essam Eldin Ahmed Abdulhakim, Naren Savani, Gloria A Bachmann, Elizabeth Barrett-Connor, Neil C Binkley, Henry G Bone, Donald M Brandon, Darin David Checketts, Neil J Fraser, Nelson B Watts, Steven A Geller, Joseph S Gimbel, Maria White Greenwald, Peter A Holt, Cyrus Conrad Johnston, Chien Fang, David J Klashman, E. Michael Lewiecki, Mitchell B Lowenstein, Michael Roy McClung, Susan M Nattrass, Alberto Odio, Julie Levengood, Josefina Romaguera, Mohamed Bassam Sebai, Brian Snyder, Mark Eliot Kutner, Dan Streja, Elliott P Schwartz, and Mark G Christiansen
Subjects: cathepsin-k inhibitor, Endocrinology, Diabetes and Metabolism, Osteoporosis, Placebo-controlled study, law.invention, Fractures, Bone, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Randomized controlled trial, Bone Density, law, Outpatient clinic, 030212 general & internal medicine, Osteoporosis, Postmenopausal, Aged, 80 and over, density, Hip fracture, Bone Density Conservation Agents, odanacatib, postmenopausal osteoporosis, LOFT, extension study, Treatment Outcome, medicine.anatomical_structure, Spinal Fractures, Female, women, strength, Odanacatib, medicine.medical_specialty, 030209 endocrinology & metabolism, Placebo, 03 medical and health sciences, Double-Blind Method, Internal medicine, Internal Medicine, medicine, Humans, bone mass, fracture, mortality, denosumab, turnover, therapy, Aged, Femoral neck, Hip Fractures, business.industry, Biphenyl Compounds, medicine.disease, chemistry, business, Osteoporotic Fractures
Abstract: Background: Odanacatib, a cathepsin K inhibitor, reduces bone resorption while maintaining bone formation. Previous work has shown that odanacatib increases bone mineral density in postmenopausal women with low bone mass. We aimed to investigate the efficacy and safety of odanacatib to reduce fracture risk in postmenopausal women with osteoporosis. Methods: The Long-term Odanacatib Fracture Trial (LOFT) was a multicentre, randomised, double-blind, placebo-controlled, event-driven study at 388 outpatient clinics in 40 countries. Eligible participants were women aged at least 65 years who were postmenopausal for 5 years or more, with a femoral neck or total hip bone mineral density T-score between −2·5 and −4·0 if no previous radiographic vertebral fracture, or between −1·5 and −4·0 with a previous vertebral fracture. Women with a previous hip fracture, more than one vertebral fracture, or a T-score of less than −4·0 at the total hip or femoral neck were not eligible unless they were unable or unwilling to use approved osteoporosis treatment. Participants were randomly assigned (1:1) to either oral odanacatib (50 mg once per week) or matching placebo. Randomisation was done using an interactive voice recognition system after stratification for previous radiographic vertebral fracture, and treatment was masked to study participants, investigators and their staff, and sponsor personnel. If the study completed before 5 years of double-blind treatment, consenting participants could enrol in a double-blind extension study (LOFT Extension), continuing their original treatment assignment for up to 5 years from randomisation. Primary endpoints were incidence of vertebral fractures as assessed using radiographs collected at baseline, 6 and 12 months, yearly, and at final study visit in participants for whom evaluable radiograph images were available at baseline and at least one other timepoint, and hip and non-vertebral fractures adjudicated as being a result of osteoporosis as assessed by clinical history and radiograph. Safety was assessed in participants who received at least one dose of study drug. The adjudicated cardiovascular safety endpoints were a composite of cardiovascular death, myocardial infarction, or stroke, and new-onset atrial fibrillation or flutter. Individual cardiovascular endpoints and death were also assessed. LOFT and LOFT Extension are registered with ClinicalTrials.gov (number NCT00529373) and the European Clinical Trials Database (EudraCT number 2007-002693-66). Findings: Between Sept 14, 2007, and Nov 17, 2009, we randomly assigned 16 071 evaluable patients to treatment: 8043 to odanacatib and 8028 to placebo. After a median follow-up of 36·5 months (IQR 34·43–40·15) 4297 women assigned to odanacatib and 3960 assigned to placebo enrolled in LOFT Extension (total median follow-up 47·6 months, IQR 35·45–60·06). In LOFT, cumulative incidence of primary outcomes for odanacatib versus placebo were: radiographic vertebral fractures 3·7% (251/6770) versus 7·8% (542/6910), hazard ratio (HR) 0·46, 95% CI 0·40–0·53; hip fractures 0·8% (65/8043) versus 1·6% (125/8028), 0·53, 0·39–0·71; non-vertebral fractures 5·1% (412/8043) versus 6·7% (541/8028), 0·77, 0·68–0·87; all p
Published: 2019
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16. The 9th Santorini Conference: Systems Medicine, Personalised Health and Therapy. 'The Odyssey from Hope to Practice', Santorini, Greece, 30 September–3 October 2018

Author: Federico Innocenti, Robert Barouki, Lynn Webster, Georges Dagher, Cora Vacher, Christine Masson, Charity Nofziger, Urs A. Meyer, Michael Marschler, Markus Paulmichl, Sophie Visvikis-Siest, Satish Kumar, Georges Weryha, Heiko Meyer, John Victor Lamont, Brigitte Hiegel, Panagiotis Deloukas, Alexandros M. Petrelis, Eric Boerwinkle, Vesna Gorenjak, Maria G. Stathopoulou, Interactions Gène-Environnement en Physiopathologie Cardio-Vasculaire (IGE-PCV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Toxicité environnementale, cibles thérapeutiques, signalisation cellulaire (T3S - UMR_S 1124), Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), The University of Texas Health Science Center at Houston (UTHealth), Queen Mary University of London (QMUL), University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Randox Laboratories, Biozentrum Basel, Univeristé de Bâle, Austrian Institute of Technology [Vienna] (AIT), and Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome]
Subjects: 0301 basic medicine, Modern medicine, Presidency, [SDV]Life Sciences [q-bio], Big data, Medicine (miscellaneous), lcsh:Medicine, santorini conference, [SDV.CAN]Life Sciences [q-bio]/Cancer, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Pharmacovigilance, cancer, Sociology, systems medicine, pharmacogenomics, Medical education, clinical trials, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, lcsh:R, Industrial research, personalised medicine, Conference Report, “-OMICs” biomarkers, genetic screening, Precision medicine, cardio-metabolic diseases, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 3. Good health, Clinical Practice, Systems medicine, 030104 developmental biology, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: The 9th traditional biannual conference on Systems Medicine, Personalised Health & Therapy—“The Odyssey from Hope to Practice„, inspired by the Greek mythology, was a call to search for practical solutions in cardio-metabolic diseases and cancer, to resolve and overcome the obstacles in modern medicine by creating more interactions among disciplines, as well as between academic and industrial research, directed towards an effective ‘roadmap’ for personalised health and therapy. The 9th Santorini Conference, under the Presidency of Sofia Siest, the director of the INSERM U1122; IGE-PCV (www.u1122.inserm.fr), University of Lorraine, France, offered a rich and innovative scientific program. It gathered 34 worldwide distinguished speakers, who shared their passion for personalised medicine with 160 attendees in nine specific sessions on the following topics: First day: The Odyssey from hope to practice: Personalised medicine—landmarks and challenges Second day: Diseases to therapeutics—genotype to phenotype an “-OMICS„ approach: focus on personalised therapy and precision medicine Third day: Gene-environment interactions and pharmacovigilance: a pharmacogenetics approach for deciphering disease “bench to clinic to reality„ Fourth day: Pharmacogenomics to drug discovery: a big data approach and focus on clinical data and clinical practice. In this article we present the topics shared among the participants of the conference and we highlight the key messages.
Published: 2018
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17. 18F-FDOPA PET/CT Uptake Parameters Correlate with Catecholamine Secretion in Human Pheochromocytomas

Author: Sophie Moog, Georges Weryha, Stéphane Ory, Stéphane Gasman, Elodie Chevalier, Laurent Brunaud, Marc Klein, Sébastien Houy, Marion Rame, Thomas Cuny, Université de Lorraine (UL), Équipe 'Rythme, vie et mort de la rétine', Université de Strasbourg (UNISTRA)-Institut des Neurosciences Cellulaires et Intégratives (INCI)-Centre National de la Recherche Scientifique (CNRS), Institut des Neurosciences Cellulaires et Intégratives (INCI), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Service d'Endocrinologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre de recherche en neurobiologie - neurophysiologie de Marseille (CRN2M), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, Male, medicine.medical_specialty, SDHB, Endocrinology, Diabetes and Metabolism, Adrenal Gland Neoplasms, 030209 endocrinology & metabolism, [SDV.CAN]Life Sciences [q-bio]/Cancer, Pheochromocytoma, Normetanephrine, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Catecholamines, Internal medicine, Positron Emission Tomography Computed Tomography, medicine, Humans, Metanephrine, Aged, Retrospective Studies, PET-CT, medicine.diagnostic_test, biology, Endocrine and Autonomic Systems, Chromogranin A, Middle Aged, medicine.disease, Dihydroxyphenylalanine, chemistry, Positron emission tomography, 030220 oncology & carcinogenesis, biology.protein, Female, SDHD
Abstract: Background: 18F-FDOPA positron emission tomography/computed tomography (PET/CT) is a sensitive nuclear imaging technology for the diagnosis of pheochromocytomas (PHEO). However, its utility in determining predictive factors for the secretion of catecholamines remains poorly studied. Methods: Thirty-nine histologically confirmed PHEO were included in this retrospective single-center study. Patients underwent 18F-FDOPA PET/CT before surgery, with an evaluation of several uptake parameters (standardized uptake values [SUVmax and SUVmean] and the metabolic burden [MB] calculated as follows: MB = SUVmean × tumor volume) and measurement of plasma and/or urinary metanephrine (MN), normetanephrine (NM), and chromogranin A. Thirty-five patients were screened for germline mutations in the RET, SDHx, and VHL genes. Once resected, primary cultures of 5 PHEO were used for real-time measurement of catecholamine release by carbon fiber amperometry. Results: The MB of the PHEO positively correlated with 24-h urinary excretion of NM (r = 0.64, p < 0.0001), MN (r = 0.49, p = 0.002), combined MN and NM (r = 0.75, p < 0.0001), and eventually plasma free levels of NM (r = 0.55, p = 0.006). In the mutated patients (3 SDHD, 2 SDHB, 3 NF1, 1 VHL, and 3 RET), a similar correlation was observed between MB and 24-h urinary combined MN and NM (r = 0.86, p = 0.0012). For the first time, we demonstrate a positive correlation between the PHEO-to-liver SUVmax ratio and the mean number of secretory granule fusion events of the corresponding PHEO cells revealed by amperometric spikes (p = 0.01). Conclusion: While the 18F-FDOPA PET/CT MB of PHEO strongly correlates with the concentration of MN, amperometric recordings suggest that 18F-FDOPA uptake could be enhanced by overactivity of catecholamine exocytosis.
Published: 2018
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18. 2018 update of French recommendations on the management of postmenopausal osteoporosis

Author: Karine Briot, F. Tremollieres, Anne Marie Lehr-Drylewicz, Thierry Thomas, Eric Lespessailles, Christian Roux, Hubert Blain, Bernard Cortet, Daniel Buchon, Pascal Guggenbuhl, Roland Chapurlat, Jean-Marc Feron, Georges Weryha, Françoise Debiais, Jean Bernard Gauvain, Eric Legrand, Imagerie Multimodale Multiéchelle et Modélisation du Tissu Osseux et articulaire (I3MTO), Université d'Orléans (UO), Service de rhumatologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Biologie intégrative du tissu osseux, Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Lapeyronie [Montpellier] (CHU), Médecine générale, Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier universitaire de Poitiers (CHU Poitiers), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional d'Orléans (CHRO), Nutrition, Métabolismes et Cancer (NuMeCan), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre de Ménopause, CHU Toulouse [Toulouse]-Hôpital Paule de Viguier, CHU Toulouse [Toulouse], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Marrow Adiposity & Bone Lab - Adiposité Médullaire et Os - ULR 4490 (MABLab (ex-pmoi)), Université du Littoral Côte d'Opale (ULCO)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Amgen, Lilly, MSD, Biologie Intégrative du Tissu Osseux (LBTO), Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Recherche Agronomique (INRA)-Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Ménopause [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Jonchère, Laurent, CHU Cochin [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Service de Rhumatologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Université Jean Monnet [Saint-Étienne] ( UJM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Hôpital Lapeyronie [Montpellier] ( CHU ), Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases ( LYOS ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ), CHU de Poitiers, Nutrition, Métabolismes et Cancer ( NuMeCan ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), CHU Angers, Physiopathologie des Maladies Osseuses et Inflammatoires ( PMOI ), and Université du Littoral Côte d'Opale-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille )
Subjects: FRAX, Osteoporosis, Recommendations, Absorptiometry, Photon, 0302 clinical medicine, Bone Density, Osteoporosis, Postmenopausal, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP.RSOA] Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, Hip fracture, Bone Density Conservation Agents, Diphosphonates, Disease Management, French, Middle Aged, Prognosis, 3. Good health, Menopause, [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, Bone absorptiometry, Practice Guidelines as Topic, language, Female, France, medicine.drug, medicine.medical_specialty, 030209 endocrinology & metabolism, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Risk Assessment, 03 medical and health sciences, Rheumatology, Internal medicine, medicine, Humans, Raloxifene, Aged, 030203 arthritis & rheumatology, [ SDV ] Life Sciences [q-bio], business.industry, medicine.disease, language.human_language, [SDV.MHEP.GEO] Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Zoledronic acid, Fracture, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Family medicine, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, Osteoporotic Fractures, Forecasting
Abstract: International audience; Objectives - To update the 2012 recommendations on pharmacotherapy for postmenopausal osteoporosis, under the aegis of the Bone Task Force of the French Society for Rheumatology (SFR) and of the Osteoporosis Research and Information Group (GRIO), in collaboration with scientific societies (Collège national des généralistes enseignants, Collège national des gynécologues et obstétriciens français, Fédération nationale des collèges de gynécologie médicale, Groupe d'étude de la ménopause et du vieillissement hormonal, Société française de chirurgie orthopédique, Société française d'endocrinologie, and Société française de gériatrie et de gérontologie). Methods - Updated recommendations were developed by a task force whose members represented the medical specialties involved in the management of postmenopausal osteoporosis. The update was based on a literature review and developed using the method advocated by the French National Authority for Health (HAS). Discussion and conclusion - The updated recommendations place strong emphasis on the treatment of women with severe fractures, in whom the use of osteoporosis medications is recommended. All the available osteoporosis medications are suitable in patients with severe fractures; zoledronic acid deserves preference as the fist-line drug after a hip fracture. In patients with or without non-severe fractures, the decision to use osteoporosis medications is based on bone mineral density values and in challenging cases, on probabilities supplied by prediction tools such as FRAX. All osteoporosis medications are suitable; raloxifene should be reserved for patients at low risk for peripheral fractures. The fracture risk should be reevaluated every 2 to 3 years to decide on the best follow-up treatment. These updated recommendations discuss the selection of first-line osteoporosis medications and treatment sequences.
Published: 2018
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19. Subacute Thyroiditis Revealing a Pheochromocytoma

Author: Marc Klein, Eva Feigerlova, Georges Weryha, Anna Furmaniuk, and Lea Demarquet
Subjects: endocrine system, Past medical history, Pathology, medicine.medical_specialty, endocrine system diseases, biology, business.industry, 030209 endocrinology & metabolism, General Medicine, RC648-665, medicine.disease, Diseases of the endocrine glands. Clinical endocrinology, Thyroid disorder, Pheochromocytoma, 03 medical and health sciences, 0302 clinical medicine, Thyroid peroxidase, 030220 oncology & carcinogenesis, Humoral immunity, biology.protein, Medicine, Antibody, business, Hormone, Subacute thyroiditis
Abstract: Objective: Subacute thyroiditis is an inflammatory thyroid disorder, and its co-existence with pheochromocytoma is uncommon. Both diagnostic entities have similar clinical signs, which can mislead a correct diagnosis.Methods: We report a case of a patient with pheochromocytoma revealed by subacute thyroiditis and describe the clinical course and management.Results: Hyperthyroidism in our patient was characterized by association of elevated erythrocyte sedimentation rate, high serum free thyroxin and free triiodothyronine levels, low thyroid-stimulating hormone, and negativity of circulating thyroperoxidase antibodies and thyrotropin-receptor antibodies, in the presence of low thyroidal technetium uptake. Retrieval of past medical history revealed discovery of a left adrenal mass on ultrasonography performed 2 years prior for occasional hypertension. The catecholamine-induced pro-inflammatory state seems to be the result of the effects of catecholamines on humoral immunity in our patient. The therapeutic challenge concerns management of hyperthyroidism and optimal control of hypertension before surgery for pheochromocytoma. Our patient responded well to glucocorticoids and labetalol characterized by α:β-blocking action. There is no optimal medical strategy, and the choice of the treatment should be based on individualized risks and benefits.Conclusion: Our case underlines the importance of considering interactions among the adrenergic signaling pathways, thyroid hormones, and the immune system in the diagnosis and clinical workup.Abbreviations: α-AR and β-AR = alpha-adrenergic receptor and beta-adrenergic receptor BP = blood pressure FT3 = free triiodothyronine FT4 = free thyroxin TPOAb = thyroperoxydase TRAb = thyrotropin-receptor antibodies TSH = thyroid-stimulating hormone 18F-DOPA PET = 18-fluorodopa positron emission tomography
Published: 2016
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20. Actualisation 2018 des recommandations françaises du traitement de l'ostéoporose post-ménopausique

Author: Georges Weryha, Eric Legrand, Hubert Blain, Françoise Debiais, Roland Chapurlat, Anne Marie Lehr-Drylewicz, Daniel Buchon, Bernard Cortet, Karine Briot, Pascal Guggenbuhl, Jean Bernard Gauvain, Christian Roux, F. Tremollieres, Jean-Marc Feron, Thierry Thomas, Eric Lespessailles, Jonchère, Laurent, AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de rhumatologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Hôpital Cochin [AP-HP], INSERM U1059, SAINBIOSE - Santé, Ingénierie, Biologie, Saint-Etienne (SAINBIOSE-ENSMSE), Centre Ingénierie et Santé (CIS-ENSMSE), École des Mines de Saint-Étienne (Mines Saint-Étienne MSE), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-École des Mines de Saint-Étienne (Mines Saint-Étienne MSE), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Lapeyronie [Montpellier] (CHU), CHU Limoges, Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional d'Orléans (CHRO), Nutrition, Métabolismes et Cancer (NuMeCan), Institut National de la Recherche Agronomique (INRA)-Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Departement Médecine Générale [Tours] (Faculté de Médecine), Université de Tours (UT), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Marrow Adiposity & Bone Lab - Adiposité Médullaire et Os - ULR 4490 (MABLab (ex-pmoi)), Université du Littoral Côte d'Opale (ULCO)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Santé Ingénierie Biologie Saint-Etienne (SAINBIOSE), Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Ingénierie et Santé (CIS-ENSMSE), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université de Tours, Hôpital Paule de Viguier, CHU Toulouse [Toulouse], and Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: [SDV.MHEP.RSOA] Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, Ostéoporose, Recommandations, 030209 endocrinology & metabolism, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, 03 medical and health sciences, [SDV.MHEP.GEO] Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, 0302 clinical medicine, Fracture, Rheumatology, [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, 030212 general & internal medicine, Ménopause, Densitométrie osseuse, FRAX
Abstract: National audience; Objectifs Actualiser sous l’égide de la section os de la Société française de rhumatologie (SFR) et du groupe de recherche et d’information sur les ostéoporoses (GRIO) en collaboration avec des sociétés savantes (Collège national des généralistes enseignants, Collège national des gynécologues et obstétriciens français, Fédération nationale des collèges de gynécologie médicale, groupe d’étude de la ménopause et du vieillissement hormonal, Société française de chirurgie orthopédique, Société française d’endocrinologie, Société française de gériatrie et de gérontologie) les recommandations du traitement médicamenteux de l’ostéoporose post-ménopausique publiées précédemment en 2012.Méthodes Un groupe de travail, représentatif des spécialités médicales intervenant dans la prise en charge de ces patientes a élaboré ces recommandations à partir d’une analyse systématique de la littérature selon la méthode HAS.Discussion et conclusion Ces recommandations insistent sur la prise en charge des femmes avec une fracture sévère chez lesquelles un traitement anti-ostéoporotique est recommandé. En cas de fracture sévère, tous les traitements peuvent être prescrits ; l’acide zolédronique est à privilégier en première intention après une fracture de hanche. Dans les autres cas (avec ou sans fracture non sévère) l’indication thérapeutique dépend des valeurs de la densité minérale osseuse (DMO) et dans les cas difficiles d’outils comme le FRAX®. Tous les traitements peuvent être utilisés ; le raloxifène est à réserver aux patientes à faible risque de fracture périphérique. Le risque de fracture doit réévaluer tous les 2 à 3 ans pour décider des suites de la prise en charge. Ces recommandations abordent le choix du premier traitement et les séquences thérapeutiques.
Published: 2018
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21. The penetrance of MEN2 pheochromocytoma is not only determined by

Author: Frederic, Castinetti, Ana Luiza, Maia, Mariola, Peczkowska, Marta, Barontini, Kornelia, Hasse-Lazar, Thera P, Links, Rodrigo A, Toledo, Sarka, Dvorakova, Caterina, Mian, Maria Joao, Bugalho, Stefania, Zovato, Maria, Alevizaki, Andrei, Kvachenyuk, Birke, Bausch, Paola, Loli, Simona R, Bergmann, Attila, Patocs, Marija, Pfeifer, Josefina Biarnes, Costa, Ernst, von Dobschuetz, Claudio, Letizia, Gerlof, Valk, Marcin, Barczynski, Malgorzata, Czetwertynska, John T M, Plukker, Paola, Sartorato, Tomas, Zelinka, Petr, Vlcek, Svetlana, Yaremchuk, Georges, Weryha, Letizia, Canu, Nelson, Wohllk, Frederic, Sebag, Martin K, Walz, Charis, Eng, and Hartmut P H, Neumann
Subjects: Adult, Aged, 80 and over, Male, Adolescent, Proto-Oncogene Proteins c-ret, Adrenal Gland Neoplasms, Multiple Endocrine Neoplasia Type 2a, Penetrance, Exons, Pheochromocytoma, Middle Aged, Young Adult, Mutation, Humans, Female, Child, Aged
Published: 2017

22. Autosomal dominant arthropathy in a French family

Author: Gaucher, Alain, Weryha, Georges, Perrier, Pascale, Moreau, Paul, Pere, Patrice, Gillet, Pierre, and Vu, Vincent Dang
Subjects: Arthritis -- Evaluation, Joint diseases -- Genetic aspects, Familial diseases -- Study and teaching, Health
Abstract: Many rheumatic diseases are influenced by both genetic and environmental factors. Studies of families help to understand the genetic aspects of these multifactorial disorders. Some are inherited as an autosomal dominant trait, such that an individual who inherits the gene carrying the trait will have the disease. Other rheumatic disorders such as ankylosing spondylitis (spinal arthritis which ends in spinal fusion and rigidity) tend to cluster in families, but will not occur uniformly. Spondylitis is related to the presence of a particular HLA (human leukocyte antigen) subtype. These subtypes are groups of cell-surface proteins which distinguish self cells from nonself cells and are important in defense against foreign organisms and rejection of grafted tissues. Spondylitis, similar spondylarthropathies (arthritis of the spine), and rheumatoid arthritis have not previously been found to inherited as an autosomal dominant trait. The occurrence of an arthropathy (joint disease) running within a French family is described. The study was begun after finding two sisters and a brother with a polyarthritis (involvement of many joints) without positive blood tests. Five generations and 83 family members were studied. Medical symptoms and X-ray evidence of arthritis were found in 16 subjects. Eye inflammation, intestinal disease, and psoriasis were not present. Three consecutive generations were affected, every affected subject in the second to fourth generations had an affected parent, transmission was autosomal rather than sex-linked (as male-to-male transmission was found), and 61 percent of children of affected subjects inherited the disease, all suggestive of an autosomal dominant inheritance pattern. Joint symptoms began between 18 and 32 years. The wrist, foot, or shoulder were usually the first joints involved, and the disease usually occurred as intermittent episodes of one to three months. Mechanical factors influenced the joints affected, as right-handed subjects had right-sided symptoms, and manual workers had inflamed wrists. Painless stiffness gradually developed, and the neck, low back, and sacroiliac joints were involved, but not prominently. X-rays showed bone erosions and proliferation. Joint symptoms did not resemble rheumatoid arthritis or ankylosing spondylitis. Ossification (bony changes) of soft tissues occurred. The study suggests this is a novel type of inherited arthritis, and research is needed to identify the target of the genetic change. (Consumer Summary produced by Reliance Medical Information, Inc.)
Published: 1991

23. The 9th Santorini Conference: Systems Medicine, Personalised Health and Therapy. “The Odyssey from Hope to Practice”, Santorini, Greece, 30 September–3 October 2018

Author: Visvikis-Siest, Sophie, primary, Gorenjak, Vesna, additional, Stathopoulou, Maria, additional, Petrelis, Alexandros, additional, Weryha, Georges, additional, Masson, Christine, additional, Hiegel, Brigitte, additional, Kumar, Satish, additional, Barouki, Robert, additional, Boerwinkle, Eric, additional, Dagher, Georges, additional, Deloukas, Panagiotis, additional, Innocenti, Federico, additional, Lamont, John, additional, Marschler, Michael, additional, Meyer, Heiko, additional, Meyer, Urs, additional, Nofziger, Charity, additional, Paulmichl, Markus, additional, Vacher, Cora, additional, and Webster, Lynn, additional
Published: 2018
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24. The Peroxisome Proliferator-Activated Receptor γ Agonist Pioglitazone Preserves Bone Microarchitecture in Experimental Arthritis by Reducing the Interleukin-17-Dependent Osteoclastogenic Pathway

Author: Claire Bastien, David Moulin, Jean-Yves Jouzeau, Patrick Netter, Daniel Chappard, Georges Weryha, and Meriem Koufany
Subjects: musculoskeletal diseases, medicine.medical_specialty, Immunology, Arthritis, Peroxisome proliferator-activated receptor, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Osteoprotegerin, Internal medicine, medicine, Immunology and Allergy, Pharmacology (medical), 030304 developmental biology, 030203 arthritis & rheumatology, Bone mineral, chemistry.chemical_classification, 0303 health sciences, biology, Chemistry, medicine.disease, medicine.anatomical_structure, Endocrinology, RANKL, biology.protein, Cortical bone, Interleukin 17, Pioglitazone, medicine.drug
Abstract: Objective To investigate the effect of pioglitazone on inflammation-induced bone loss and changes in bone microarchitecture in rats with adjuvant-induced arthritis (AIA), focusing on the contribution of interleukin-17 (IL-17) and the balance of RANKL and osteoprotegerin (OPG). Methods Male Lewis rats sensitized with Freund's complete adjuvant were treated orally for 21 days with 30 mg/kg/day of pioglitazone or vehicle. Arthritis severity was evaluated by clinical and histologic examination. Bone mineral density (BMD) was assessed by dual x-ray absorptiometry. The therapeutic effect of pioglitazone on changes of the bone architecture was determined by micro–computed tomography (micro-CT). Levels of RANKL, OPG, and IL-17 were determined by serum immunoassay and by synovial tissue immunohistochemistry. Messenger RNA for IL-17 and retinoic acid receptor–related orphan nuclear receptor γt (RORγt) was evaluated by quantitative reverse transcription–polymerase chain reaction and IL-17 promoter activity by gene-reporter assay. Results Micro-CT analysis revealed that pioglitazone treatment reduced arthritis severity and bone erosion scores and increased BMD in comparison to vehicle treatment. Cortical bone thickness was preserved, although the major beneficial effect of pioglitazone was on indices of the trabeculae, especially trabecular separation. Pioglitazone reduced the ratio of RANKL to OPG, in both the serum and the inflamed synovium. Circulating levels of IL-17 were significantly reduced by pioglitazone treatment, as were the percentages of IL-17–positive cells, mainly polymorphonuclear cells, in the inflamed synovium. Induction of IL-17 was strictly dependent on the binding of RORγt to IL-17 promoter, and lentiviral overexpression of peroxisome proliferator–activated receptor γ (PPARγ) reduced the expression of RORγt. Conclusion Pioglitazone decreased the level of inflammatory bone destruction and protected the bone microarchitecture in rats with AIA by controlling the circulating and local expression of IL-17, with a subsequent decrease in the RANKL-to-OPG ratio. Along with the inhibition of RORγt expression after PPARγ overexpression, these findings provide evidence of the major contribution of reduced IL-17/RANKL-dependent osteoclastogenesis.
Published: 2013
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25. Treatment of osteoporosis in men

Author: M. L. Brandi, Willard H. Dere, Jean-Pierre Devogelaer, René Rizzoli, Georges Weryha, Eric S. Orwoll, John A. Kanis, Steven Boonen, Adolfo Diez-Perez, J-Y Reginster, Johann D. Ringe, Cyrus Cooper, Eugene V. McCloskey, Bruce H. Mitlak, and JM Kaufman
Subjects: Male, Pediatrics, medicine.medical_specialty, Histology, Bone density, Fracture risk, Physiology, Endocrinology, Diabetes and Metabolism, Osteoporosis, MEDLINE, Article, law.invention, Fractures, Bone, Randomized controlled trial, Strontium ranelate, Bone Density, law, Intervention (counseling), Bone mineral density, Humans, Medicine, Gonadal hormone status, T-score, Bone mineral densityFracture riskGonadal hormone statusTreatmentT-score, Gynecology, Hip fracture, Bone Density Conservation Agents, business.industry, medicine.disease, Treatment, Institutional repository, ddc:618.97, Men's Health, business, Algorithms, medicine.drug
Abstract: SUMMARY: Aspects of osteoporosis in men, such as screening and identification strategies, definitions of diagnosis and intervention thresholds, and treatment options (both approved and in the pipeline) are discussed. INTRODUCTION: Awareness of osteoporosis in men is improving, although it remains under-diagnosed and under-treated. A European Society for Clinical and Economic Aspects of Osteoporosis and Osteoarthritis (ESCEO) workshop was convened to discuss osteoporosis in men and to provide a report by a panel of experts (the authors). METHODS: A debate with an expert panel on preselected topics was conducted. RESULTS AND CONCLUSIONS: Although additional fracture data are needed to endorse the clinical care of osteoporosis in men, consensus views were reached on diagnostic criteria and intervention thresholds. Empirical data in men display similarities with data acquired in women, despite pathophysiological differences, which may not be clinically relevant. Men should receive treatment at a similar 10-year fracture probability as in women. The design of mixed studies may reduce the lag between comparable treatments for osteoporosis in women becoming available in men.
Published: 2013
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26. Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Author: Molin, Arnaud, Wiedemann, Arnaud, Demers, Nick, Kaufmann, Martin, Do Cao, Jérémy, Mainard, Laurent, Dousset, Brigitte, Journeau, Pierre, Abeguilé, Geneviève, Coudray, Nadia, Mittre, Hervé, Richard, Nicolas, Weryha, Georges, Sorlin, Arthur, Jones, Glenville, Kottler, Marie-Laure, Feillet, Francois, Œstrogènes, reproduction, cancer (OeReCa), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Faculté de Médecine [Nancy], Université de Lorraine (UL), Queen's University [Kingston, Canada], Département de Radiologie adultes [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Université de Lorraine (UL), Biochimie – Biologie moléculaire et Nutrition [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Chirurgie Pédiatrique [CHRU Nancy], Service de Génétique [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Service d'Endocrinologie - Diabète - Nutrition [CHRU Nancy], Service de Génétique [CHRU Nancy], Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)
Subjects: 25-Hydroxyvitamin D3 1-alpha-Hydroxylase, Adult, Male, GENETICS, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, 25-HYDROXYLASE, Child, Preschool, PERSONALIZED MEDICINE, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], Ergocalciferols, Mutation, Cholestanetriol 26-Monooxygenase, Humans, Female, Diagnostic Errors, Vitamin D, Child, Cytochrome P450 Family 2, Rickets
Abstract: International audience; Vitamin D requires a two-step activation by hydroxylation: The first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2) and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of 1,25-(OH)2 D. Mutations of CYP2R1 have been associated with vitamin D-dependent rickets type 1B (VDDR1B), a very rare condition that has only been reported to affect 4 families to date. We describe 7 patients from 2 unrelated families who presented with homozygous loss-of-function mutations of CYP2R1. Heterozygous mutations were present in their normal parents. We identified a new c.124_138delinsCGG (p.Gly42_Leu46delinsArg) variation and the previously published c.296T>C (p.Leu99Pro) mutation. Functional in vitro studies confirmed loss-of-function enzymatic activity in both cases. We discuss the difficulties in establishing the correct diagnosis and the specific biochemical pattern, namely, very low 25-OH-D suggestive of classical vitamin D deficiency, in the face of normal/high concentrations of 1,25-(OH)2 D. Siblings exhibited the three stages of rickets based on biochemical and radiographic findings. Interestingly, adult patients were able to maintain normal mineral metabolism without vitamin D supplementation. One index case presented with a partial improvement with 1alfa-hydroxyvitamin D3 or alfacalcidol (1α-OH-D3 ) treatment, and we observed a dramatic increase in the 1,25-(OH)2 D serum concentration, which indicated the role of accessory 25-hydroxylase enzymes. Lastly, in patients who received calcifediol (25-OH-D3 ), we documented normal 24-hydroxylase activity (CYP24A1). For the first time, and according to the concept of personalized medicine, we demonstrate dramatic improvements in patients who were given 25-OH-D therapy (clinical symptoms, biochemical data, and bone densitometry). In conclusion, the current study further expands the CYP2R1 mutation spectrum. We note that VDDR1B could be easily mistaken for classical vitamin D deficiency.
Published: 2017
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27. 8th Santorini Conference: Systems medicine and personalized health and therapy, Santorini, Greece, 3–5 October 2016

Author: Maria G. Stathopoulou, Lynn M. Bekris, Urs A. Meyer, Pierre-Yves Dietrich, Mario Noyer-Weidner, Alex-Ander Aldasoro Arguinano, Roland P. Bühlmann, Andreas Papassotiropoulos, Georges Weryha, Baishen Pan, Winfried März, Philippe Froguel, Ting Xie, Sophie Visvikis-Siest, Panagiotis Deloukas, Vid Mlakar, Francesco Innocenti, Alexandros M. Petrelis, Marc Ansari, Ron H.N. van Schaik, Peter Meier-Abt, George Dedoussis, Interactions Gène-Environnement en Physiopathologie Cardio-Vasculaire (IGE-PCV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Institut de biologie de Lille - UMS 3702 (IBL), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Biozentrum [Basel, Suisse], University of Basel (Unibas), Hôpital Universitaire de Genève = University Hospitals of Geneva (HUG), Harokopio University of Athens, Max Planck Institute for Molecular Genetics (MPIMG), Max-Planck-Gesellschaft, Erasmus University Medical Center [Rotterdam] (Erasmus MC), University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Cleveland Clinic, Queen Mary University of London (QMUL), and Hôpital Universitaire de Genève
Subjects: ddc:616, 0303 health sciences, ddc:618, [SDV]Life Sciences [q-bio], Library science, Personalized health, Archaeology, 3. Good health, Systems medicine, 03 medical and health sciences, 0302 clinical medicine, Geography, 030220 oncology & carcinogenesis, Pharmacology (medical), General Pharmacology, Toxicology and Pharmaceutics, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology
Abstract: International audience
Published: 2017
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28. The penetrance of MEN2 pheochromocytoma is not only determined by ret mutations

Author: Andrei Kvachenyuk, Hartmut P. H. Neumann, Claudio Letizia, Attila Patócs, Stefania Zovato, Tomáš Zelinka, Frederic Sebag, Nelson Wohllk, Svetlana Yaremchuk, Thera P. Links, Georges Weryha, Gerlof D. Valk, Charis Eng, Letizia Canu, Maria João Bugalho, Martin K. Walz, Maria Alevizaki, Simona R Bergmann, Małgorzata Czetwertyńska, Josefina Biarnes Costa, Caterina Mian, Frederic Castinetti, Marija Pfeifer, Sarka Dvorakova, Rodrigo A. Toledo, Kornelia Hasse-Lazar, John T. M. Plukker, Ana Luiza Maia, Marcin Barczyński, Paola Sartorato, Birke Bausch, Petr Vlcek, Mariola Pęczkowska, Paola Loli, Ernst von Dobschuetz, Marta Barontini, Damage and Repair in Cancer Development and Cancer Treatment (DARE), and Guided Treatment in Optimal Selected Cancer Patients (GUTS)
Subjects: Cancer Research, medicine.medical_specialty, Letter, MEDULLARY-THYROID CARCINOMA, Endocrinology, Diabetes and Metabolism, Medizin, 030209 endocrinology & metabolism, Pheochromocytoma, 03 medical and health sciences, Exon, 0302 clinical medicine, Endocrinology, Characteristics of pheochromocytoma based on geographic area, Internal medicine, medicine, MANAGEMENT, ENDOCRINE NEOPLASIA TYPE-2, Genetics, business.industry, PROTOONCOGENE, medicine.disease, Penetrance, Oncology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), business
Published: 2017

29. The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations

Author: Castinetti, Frederic Maia, Ana Luiza Peczkowska, Mariola and Barontini, Marta Hasse-Lazar, Kornelia Links, Thera P. and Toledo, Rodrigo A. Dvorakova, Sarka Mian, Caterina Bugalho, Maria Joao Zovato, Stefania Alevizaki, Maria Kvachenyuk, Andrei Bausch, Birke Loli, Paola Bergmann, Simona R. and Patocs, Attila Pfeifer, Marija Biarnes Costa, Josefina von Dobschuetz, Ernst Letizia, Claudio Valk, Gerlof Barczynski, Marcin Czetwertynska, Malgorzata Plukker, John T. M. and Sartorato, Paola Zelinka, Tomas Vlcek, Petr Yaremchuk, Svetlana Weryha, Georges Canu, Letizia Wohllk, Nelson and Sebag, Frederic Walz, Martin K. Eng, Charis Neumann, Hartmut P. H.
Published: 2017

30. Clinical audit concerning the quality of management in patients with classic form of congenital adrenal hyperplasia

Author: Georges Weryha, Bruno Leheup, Véronique Pascal Vigneron, and Cécile Janin
Subjects: Adult, Male, Clinical audit, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, Fertility, Models, Biological, Young Adult, Endocrinology, medicine, Humans, In patient, Congenital adrenal hyperplasia, Child, Quality of Health Care, Retrospective Studies, media_common, Clinical Audit, Adrenal Hyperplasia, Congenital, business.industry, Medical record, Infant, Newborn, Infant, Testosterone (patch), General Medicine, Continuity of Patient Care, Middle Aged, medicine.disease, Blood pressure, Child, Preschool, Female, Guideline Adherence, business, Body mass index
Abstract: Objective High Authority for Health (HAS) edited in April 2011 a national program of care and diagnostic (PNDS) concerning congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in agreement with the international recommendation 2002 and 2010. To reduce long-term complications and improve the quality of life to our patients, we had tested our professional practices. Patients All patients aged more than 18 years with classic CAH of the adult endocrine units in the Nancy's University Hospital Center. Methods We have made a clinical audit. We checked all medical records to see whether the recommendation were applied or not between the last consultation before (Tour 1; T1) and after (Tour 2; T2) the introduction of the national guidelines. Results Twenty-seven medicals records with classic CAH were analyzed. The collection of clinical data must be more systematic because if the weight appeared in 89% of cases, body mass index missed (26% only in T1), the measure of the blood pressure remained insufficient (74% in T2). Concerning the therapeutic balance, 17-hydroxyprogesterone, testosterone, renin were correctly prescribed (> 80%), Delta4-androstenedione in improvement (from 67% to 100%) some in defect (stable with 68% sodium and potassium). The evaluation of the fertility considerably progressed on the other hand the markers of bone metabolism were still often too much lacking. Conclusions Change in compliance since national guidelines is a slow process.
Published: 2013
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31. A comprehensive fracture prevention strategy in older adults : The European union geriatric medicine society (EUGMS) statement

Author: H. Blain, T. Masud, P. Dargent-Molina, F.C. Martin, E. Rosendahl, N. van der Velde, J. Bousquet, A. Benetos, C. Cooper, J.A. Kanis, J.Y. Reginster, R. Rizzoli, B. Cortet, M. Barbagallo, K. Dreinhöfer, B. Vellas, S. Maggi, T. Strandberg, M.N. Alvarez, C. Annweiler, P.-L. Bernard, N. Beswetherick, H.A. Bischoff-Ferrari, F. Bloch, J. Boddaert, M. Bonnefoy, V. Bousson, I. Bourdel-Marchasson, A. Capisizu, H. Che, J.G. Clara, B. Combe, D. Delignieres, P. Eklund, M. Emmelot-Vonk, E. Freiberger, J.-B. Gauvain, N. Goswami, N. Guldemond, Á.C. Herrero, M.-E. Joël, A.B. Jónsdóttir, G. Kemoun, I. Kiss, H. Kolk, M.L. Kowalski, Š. Krajcík, Y.G. Kutsal, F. Lauretani, J. Macijauskienė, M. Mellingsæter, J. Morel, F. Mourey, F. Nourashemi, C. Nyakas, F. Puisieux, P. Rambourg, A.G. Ramírez, K. Rapp, Y. Rolland, J. Ryg, O. Sahota, S. Snoeijs, Y. Stephan, E. Thomas, C. Todd, J. Treml, R. Adachi, D. Agnusdei, J.-J. Body, V. Breuil, O. Bruyère, P. Burckardt, J.B. Cannata-Andia, J. Carey, D.-C. Chan, L. Chapuis, T. Chevalley, M. Cohen-Solal, B. Dawson-Hughes, E.M. Dennison, J.-P. Devogelaer, P. Fardellone, J.-M. Féron, A.D. Perez, D. Felsenberg, C. Glueer, N. Harvey, M. Hiligsman, M.K. Javaid, N.R. Jörgensen, D. Kendler, M. Kraenzlin, M. Laroche, E. Legrand, W.D. Leslie, E. Lespessailles, E.M. Lewiecki, T. Nakamura, A. Papaioannou, C. Roux, S. Silverman, M.S. Henriquez, T. Thomas, S. Vasikaran, N.B. Watts, G. Weryha, Euromov (EuroMov), Université de Montpellier (UM), Contre les MAladies Chroniques pour un VIeillissement Actif en Languedoc-Roussillon (MACVIA-LR), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)-European Innovation Partnership on Active and Healthy Ageing Reference Site (EIP on AHA), Commission Européenne-Commission Européenne-Organisation Mondiale de la Santé / World Health Organization Office (OMS / WHO)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Antonin Balmès, Nottingham University Hospitals, Equipe 6 : ORCHAD - Origines précoces de la santé du développement de l'enfant (CRESS - U1153), Université Paris Descartes - Paris 5 (UPD5)-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Guy's & St Thomas' NHS Foundation Trust, Umeå University, Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA), Département pneumologie et addictologie [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Centre d'investigation clinique [Nancy] (CIC), University of Southampton, University of Oxford [Oxford], University of Sheffield [Sheffield], Université de Liège, Geneva University Hospitals and Geneva University, Hôpital Roger Salengro [Lille], Università degli studi di Palermo - University of Palermo, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], CHU Toulouse [Toulouse], CNR Institute of Neuroscience, University of Padova, University of Helsinki, University of Oulu, Department of Geriatrics - Efficiency and Deficiency Laboratory, Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité ( CRESS (U1153 / UMR_A 1125) ), Université Sorbonne Paris Cité ( USPC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Institut National de la Recherche Agronomique ( INRA ), Service de médecine gériatrique, Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Department of public health, Service of Bone Diseases, Department of Rehabilitation and Geriatrics, Geneva University Hospital and Geneva University, Service de rhumatologie[Lille], Hôpital Roger Salengro-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Cognition, Action, et Plasticité Sensorimotrice [Dijon - U1093] ( CAPS ), Université de Bourgogne ( UB ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), UFR des Sciences de Santé (Université de Bourgogne), Université de Bourgogne ( UB ), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Nottingham University Hospitals NHS Trust [UK], Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Department of Electrical Engineering and Automation [Aalto University], Aalto University (A?), Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lorraine (UL), Centre Hospitalier Universitaire de Nancy (CHU Nancy), C.H.U. Sart Tilman [Liège], Charité-University Medical Center - UniversitätsMedizin [Berlin], Gérontopôle, CHU Toulouse [Toulouse]-Epidémiologie et Analyses en Santé Publique : risques, maladies chroniques et handicap (LEASP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Biomedical Sciences [Padova, Italy] (Neuroscience Institute), Italian National Research Council [Padova, Italy]-University of Padova [Padova, Italy], Helsinki University Central Hospital [Finland] (HUCH), Department of Ageing and Health, Guy's and St. Thomas' NHS Foundation Trust, Geneva University Hospital (HUG), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Roger Salengro-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Cognition, Action, et Plasticité Sensorimotrice [Dijon - U1093] (CAPS), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Bourgogne (UB), Clinicum, Department of Medicine, Timo Strandberg / Principal Investigator, Geriatrian yksikkö, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire de Nîmes (CHRU Nîmes)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-European Innovation Partnership on Active and Healthy Ageing Reference Site (EIP on AHA), Commission Européenne-Commission Européenne-Organisation Mondiale de la Santé / World Health Organization Office (OMS / WHO), Hôpital Paul Brousse-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), CIC-Nancy, Institut Lorrain du Coeur et des Vaisseaux Louis Mathieu [Nancy]-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Roger Salengro, Hôpital Roger Salengro [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC), APH - Amsterdam Public Health, AMS - Amsterdam Movement Sciences, Geriatrics, Blain, H., Masud, T., Dargent-Molina, P., Martin, F.C., Rosendahl, E., van der Velde, N., Bousquet, J., Benetos, A., Cooper, C., Kanis, J.A., Reginster, J.Y., Rizzoli, R., Cortet, B., Barbagallo, M., Dreinhöfer, K.E., Vellas, B., Maggi, S., Strandberg, T., Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Herrada, Anthony, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-European Innovation Partnership on Active and Healthy Ageing Reference Site (EIP on AHA), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Oxford, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Università degli Studi di Padova = University of Padua (Unipd), and Helsingin yliopisto = Helsingfors universitet = University of Helsinki
Subjects: Gerontology, Aging, Statement (logic), Cost effectiveness, Osteoporosis, Poison control, Medicine (miscellaneous), postmenopausal women, Position statement, Suicide prevention, Occupational safety and health, law.invention, Fractures, Bone, zoledronic acid, 0302 clinical medicine, Randomized controlled trial, Bone Density, law, Secondary Prevention, Fall, Nutrition and Dietetic, Medicine, 030212 general & internal medicine, risk-factors, ComputingMilieux_MISCELLANEOUS, media_common, Geriatrics, Aged, 80 and over, Hip fracture, Nutrition and Dietetics, [SDV.MHEP.GEG] Life Sciences [q-bio]/Human health and pathology/Geriatry and gerontology, osteoporotic fractures, [SDV.MHEP.GEG]Life Sciences [q-bio]/Human health and pathology/Geriatry and gerontology, Accidental Fall, fall induced injuries, Fragility fracture, 3. Good health, Primary Prevention, [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, randomized controlled-trials, Fracture prevention, bone-mineral density, Falls, Human, medicine.drug, medicine.medical_specialty, education, hip-fracture, 030209 endocrinology & metabolism, [ SDV.MHEP.GEG ] Life Sciences [q-bio]/Human health and pathology/Geriatry and gerontology, Article, 03 medical and health sciences, pharmacological-treatments, media_common.cataloged_instance, Humans, European Union, European union, cost-effectiveness, Aged, Postmenopausal women, business.industry, Public health, Prevention, Osteoporosi, medicine.disease, [SDV.AEN] Life Sciences [q-bio]/Food and Nutrition, Zoledronic acid, 3121 General medicine, internal medicine and other clinical medicine, ddc:618.97, Physical therapy, Accidental Falls, fragility fracture, older people, position statement, prevention, Geriatrics and Gerontology, Older people, business, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, Geriatric
Abstract: Published also in Aging Clinical and Experimental Research, Vol.28, No.4, WOS: 000379034800030 Prevention of fragility fractures in older people has become a public health priority, although the most appropriate and cost-effective strategy remains unclear. In the present statement, the Interest group on falls and fracture prevention of the European union geriatric medicine society (EUGMS), in collaboration with the International association of gerontology and geriatrics for the European region (IAGG-ER), the European union of medical specialists (EUMS), the Fragility fracture network (FFN), the International osteoporosis foundation (IOF) - European society for clinical and economic aspects of osteoporosis and osteoarthritis (ECCEO), outlines its views on the main points in the current debate in relation to the primary and secondary prevention of falls, the diagnosis and treatment of bone fragility, and the place of combined falls and fracture liaison services for fracture prevention in older people. (C) 2016 Published by Elsevier Masson SAS.
Published: 2016
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32. MRI follow-up is unnecessary in patients with macroprolactinomas and long-term normal prolactin levels on dopamine agonist treatment

Author: Thomas Cuny, Thierry Brue, Isabelle Tejedor, Georges Weryha, Albert Beckers, Philippe Touraine, J F Bonneville, Henry Dufour, Iulia Potorac, Juliette Eroukhmanoff, Frederic Castinetti, Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Service d'Endocrinologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Science et Ingénierie des Matériaux et Procédés (SIMaP ), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Centre de recherche en neurobiologie - neurophysiologie de Marseille (CRN2M), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), centre hospitalier universitaire de liège, and Service d'endocrinologie clinique
Subjects: Adult, Male, medicine.medical_specialty, Cabergoline, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], 030209 endocrinology & metabolism, Asymptomatic, Dopamine agonist, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Belgium, Dopamine, Internal medicine, medicine, Humans, Pituitary Neoplasms, Prolactinoma, 030212 general & internal medicine, Macroprolactinoma, Ergolines, Bromocriptine, Retrospective Studies, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, General Medicine, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Prolactin, 3. Good health, Dopamine Agonists, Aminoquinolines, Female, France, medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, medicine.drug, Follow-Up Studies
Abstract: Objective Both antitumor and antisecretory efficacies of dopamine agonists (DA) make them the first-line treatment of macroprolactinomas. However, there is no guideline for MRI follow-up once prolactin is controlled. The aim of our study was to determine whether a regular MRI follow-up was necessary in patients with long-term normal prolactin levels under DA. Patients and methods We conducted a retrospective multicenter study (Marseille, Paris La Pitie Salpetriere and Nancy, France; Liege, Belgium) including patients with macroprolactinomas (largest diameter: >10 mm and baseline prolactin level: >100 ng/mL) treated by dopamine agonists, and regularly followed (pituitary MRI and prolactin levels) during at least 48 months once normal prolactin level was obtained. Results In total, 115 patients were included (63 men and 52 women; mean age at diagnosis: 36.3 years). Mean baseline prolactin level was 2224 ± 6839 ng/mL. No significant increase of tumor volume was observed during the follow-up. Of the 21 patients (18%) who presented asymptomatic hemorrhagic changes of the macroprolactinoma on MRI, 2 had a tumor increase (2 and 7 mm in the largest size). Both were treated by cabergoline (1 mg/week) with normal prolactin levels obtained for 6 and 24 months. For both patients, no further growth was observed on MRI during follow-up at the same dose of cabergoline. Conclusion No significant increase of tumor size was observed in our patients with controlled prolactin levels on DA. MRI follow-up thus appears unnecessary in patients with biologically controlled macroprolactinomas.
Published: 2016
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33. High‐Dose Mitotane‐Induced Encephalopathy in the Treatment of Adrenocortical Carcinoma

Author: Melissa Yelehe-Okouma, Julien Scala-Bertola, Elise Pape, Georges Weryha, Nicolas Gambier, Zoubir Djerada, Natacha Colling, Catherine Feliu, Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Service de Pharmacologie Clinique et Toxicologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Laboratoire de Pharmacologie et Toxicologie [CHU Reims], Centre Hospitalier Universitaire de Reims (CHU Reims), Centre Régional de PharmacoVigilance de Lorraine (CRPV Lorraine), CRHU Nancy, and Service d'Endocrinologie [CHRU Nancy]
Subjects: Oncology, Cancer Research, medicine.medical_specialty, business.industry, [SDV]Life Sciences [q-bio], Treatment outcome, Encephalopathy, MEDLINE, 030209 endocrinology & metabolism, medicine.disease, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Text mining, 030220 oncology & carcinogenesis, Internal medicine, Medicine, Adrenocortical carcinoma, Mitotane, business, Letter to the Editor, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, medicine.drug
Abstract: In response to the recently published article by Reidy-Lagunes et al., which deals with clinical response to mitotane treatment in advanced adrenocortical carcinoma and the toxicity associated with this treatment, this letter to the editor reports a case of mitotane-induced encephalopathy during a high-dose mitotane treatment in adrenocortical carcinoma.
Published: 2017
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34. Expression of somatostatin receptors, dopamine D2 receptors, noradrenaline transporters, and vesicular monoamine transporters in 52 pheochromocytomas and paragangliomas

Author: Anne-Laure Germanetti, Alexandru Saveanu, Alain Enjalbert, Mihaela Muresan, Catherine De Micco, Laurent Brunaud, Jean-François Henry, Frederic Sebag, David Taïeb, Anne Barlier, and Georges Weryha
Subjects: endocrine system, Cancer Research, medicine.medical_specialty, Somatostatin receptor, Endocrinology, Diabetes and Metabolism, fungi, 030209 endocrinology & metabolism, Transporter, Biology, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Monoamine neurotransmitter, Somatostatin, Oncology, Dopamine receptor, Dopamine, 030220 oncology & carcinogenesis, Internal medicine, medicine, Immunohistochemistry, Receptor, medicine.drug
Abstract: While somatostatin receptors (sst), through somatostatin-radiolabeled analogs, are used, mainly in second line, in the diagnosis and treatment of pheochromocytomas (PCC) and paragangliomas (PGL), the clinical significance of dopamine receptor subtype 2 (D₂) in PCC/PGL is unknown. Indeed, radiolabeled dopamine (DA) analogs such as fluorine 18 ((18)F)-DA, used for positron emission tomography in PCC localization, are mainly correlated to the presence of noradrenaline transporter (NAT) and vesicular monoamine transporters (VMAT) but not to D₂. The aim of this study was to quantitate D₂ and sst expression in 52 PCC/PGL and to compare it with that of 35 gastroenteropancreatic neuroendocrine tumors (GEP-NETs). Quantitative RT-PCR of sst(1-3) and sst₅, D₂, NAT, VMAT1/2 was performed in all tumors, while immunohistochemistry analysis of sst₂ and D₂ was performed in seven tumors. D₂ mRNA was expressed in all PCC/PGL. Mean expression was significantly higher in PCC/PGL than in GEP-NETs (4.8 vs 0.5 copy/copy β-glucuronidase (Gus)). sst₂ and sst(1) were expressed in most PCC/PGL, with sst(2)-dominant expression (mean mRNA: 1.6 vs 0.4 copy/copy β-Gus). sst₂ expression level was similar to that of GEP-NETs, whereas sst₅ expression level was significantly lower (0.12 vs 0.78 copy/copy β-Gus). Our study evidenced strong D₂ mRNA expression in PCC and for the first time in PGL. PCC/PGL express sst₂ mRNA at levels similar to those of GEP-NETs. New drugs can target ssts and D₂ more efficiently than current somatostatin analogs. Moreover, transporters like NAT and VMAT1/2, could be co-targeted with sst, as a basis of new radionuclide compounds in the imaging and treatment of these tumors.
Published: 2011
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35. Mutations inNR5A1Associated with Ovarian Insufficiency

Author: Arantzazu De Perdigo, Ken McElreavey, Radia Boudjenah, Anu Bashamboo, Mihaela Muresan, Andréa Trevas Maciel-Guerra, Diana Lourenco, John C. Achermann, Lin Lin, Georges Weryha, Gil Guerra-Júnior, and Raja Brauner
Subjects: Male, Steroidogenic factor 1, Protein Conformation, Penetrance, Primary Ovarian Insufficiency, Steroidogenic Factor 1, Bioinformatics, medicine.disease_cause, XY gonadal dysgenesis, Testis, Genotype, Missense mutation, Disorders of sex development, Young adult, Child, Amenorrhea, Gonadal Dysgenesis, 46,XY, Mutation, Obstetrics and Gynecology, General Medicine, Middle Aged, Phenotype, Premature ovarian failure, Pedigree, Female, endocrine system, medicine.medical_specialty, Adolescent, Molecular Sequence Data, Biology, Article, Young Adult, Internal medicine, medicine, Adrenal insufficiency, Animals, Humans, Amino Acid Sequence, Gene, Loss function, business.industry, Infant, Newborn, medicine.disease, Endocrinology, business, Sequence Alignment
Abstract: Primary ovarian insufficiency, also known as premature ovarian failure, is characterized by loss of function of the ovaries before the age 40. Observational evidence of familial associations suggests a genetic basis for ovarian insufficiency. Despite extensive research, specific genetic causes have not been identified. A nuclear receptor, NR5A1, also called Ad4 binding protein or steroidogenic factor 1, is a protein that regulates the transcription of genes involved in the hypothalamic―pituitary―steroidogenic axis that play a key role in sexual development and reproduction. NR5A1 I is expressed in multiple ovarian cell types during fetal development, postnatal and prepubertal growth, and at maturity. In this study, the investigators tested the hypothesis that mutations in NR5A1 are associated with disorders of ovarian development and function. NR5A1 was sequenced in affected study subjects who were members of 4 families with a history of 46,XY disorders of sex development and 46,XX ovarian insufficiency and 25 women with 46,XX sporadic ovarian insufficiency. A panel of 1465 subjects of various ancestral origins who did not carry NRSA1 mutations served as controls. There was no clinical evidence of adrenal insufficiency among any of the affected patients. Mutations in the NR5A1 gene were found among members of each of the 4 families and 2 of the 25 subjects with isolated ovarian insufficiency. Analysis of the NRSA1 gene revealed a series of in-frame, frame-shift and missense mutations. Testing the effect of each of the NRSA1 mutations on protein function revealed a severe quantitative impairment of NRSA1 transactivational activity. A range of ovarian anomalies, including 46,XY gonadal dysgenesis and 46,XX primary ovarian insufficiency, were associated with the mutations. None of these mutations were found in any of the unaffected control subjects. These findings indicate that mutations in NRSA1 are associated with a number of ovarian anomalies characterized by loss of ovarian reproductive capacity.
Published: 2009
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36. Dominant-NegativeGCMBMutations Cause an Autosomal Dominant Form of Hypoparathyroidism

Author: B. Leheup, Guylène Bertrand, Michael Mannstadt, Mihaela Muresan, Caroline Silve, Harald Jüppner, Georges Weryha, Bernard Grandchamp, and Sirish R. Pulusani
Subjects: Adult, Male, Proband, medicine.medical_specialty, Hypoparathyroidism, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Molecular Sequence Data, Clinical Biochemistry, Context (language use), Dominant-Negative Mutation, Biology, medicine.disease_cause, Biochemistry, Exon, Transactivation, Endocrinology, Internal medicine, medicine, Animals, Humans, Family, Amino Acid Sequence, Gene, Cells, Cultured, Genes, Dominant, Genetics, Mutation, Base Sequence, Biochemistry (medical), Nuclear Proteins, Heterozygote advantage, Middle Aged, Pedigree, Parathyroid Hormone, Original Article, Female, Chickens, Gene Deletion, Transcription Factors
Abstract: Context: Hypoparathyroidism (HP) is characterized by low PTH levels, hypocalcemia, and hyperphosphatemia. Heterozygous mutations in pre-pro-PTH or the calcium-sensing receptor (CaSR) cause some forms of autosomal dominant HP (AD-HP). Furthermore, homozygous mutations in glial cells missing B (GCMB) have been implicated in autosomal recessive HP (AR-HP). In most other HP patients, however, the molecular defect remains undefined. Objective: Our objectives were to determine the genetic defect in the affected members of two unrelated families with AD-HP and define the underlying disease mechanism. Subjects: Several family members affected by AD-HP were investigated. The proband in family A had low calcium detected on routine blood testing, whereas the proband in family B had symptomatic hypocalcemia. Methods: Mutational analysis of the genes encoding pre-pro-PTH, CaSR, and GCMB was performed using PCR-amplified genomic DNA of the probands and other available members of each family. The identified GCMB mutants were characterized by Western blot analysis and luciferase reporter assay using DF-1 fibroblasts. Results: Two novel heterozygous mutations located in the last GCMB exon (c.1389delT and c.1399delC in families A and B, respectively) were identified that both lead to frame-shifts and replacement of the putative second transactivation domain within carboxyl-terminal region by unrelated amino acid sequence. The mutant GCMB proteins were well expressed, and both showed dose-dependent inhibition of the transactivation capacity of wild-type protein in luciferase reporter assays. Conclusions: The dominant-negative effect observed in vitro for both GCMB mutations provides a plausible explanation for the impaired PTH secretion observed in the two unrelated families with AD-HP.
Published: 2008
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37. A comparison of the effect of alendronate and risedronate on bone mineral density in postmenopausal women with osteoporosis: 24-month results from FACTS-International

Author: Carolyn M. Hustad, M. L. Brandi, João Francisco Marques-Neto, John D. Wark, David J. Hosking, David L. Kendler, David M. Reid, E. M. Mahlis, N. Verbruggen, Georges Weryha, and Mary E. Melton
Subjects: Bone mineral, medicine.medical_specialty, Trochanter, business.industry, Alendronic acid, Osteoporosis, Urology, General Medicine, medicine.disease, Bone remodeling, medicine.anatomical_structure, Endocrinology, Tolerability, Risedronic acid, Internal medicine, medicine, business, medicine.drug, Femoral neck
Abstract: Summary Objectives: To compare alendronate 70 mg once weekly (OW) with risedronate 35 mg OW with respect to change in bone mineral density (BMD), biochemical markers and upper gastrointestinal (UGI) tolerability over 24 months. Methods: This was a 12-month extension to the Fosamax® Actonel® Comparison Trial international study (FACTS). Postmenopausal women with osteoporosis randomly assigned to either alendronate 70 mg OW or risedronate 35 mg OW for the 12-month base study continued taking the same double-blind study medication. Efficacy measurements were BMD at the hip trochanter, lumbar spine, total hip, and femoral neck and levels of four bone turnover markers at 24 months. The primary hypothesis was that alendronate would produce a greater mean per cent increase from baseline in hip trochanter BMD at 24 months. Results: Trochanter BMD increased significantly from baseline to month 24 in both groups, with a significantly larger increase with alendronate: adjusted mean treatment difference of 1.50% (95% confidence interval: 0.74%, 2.26%; p
Published: 2008
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38. High-Dose Mitotane-Induced Encephalopathy in the Treatment of Adrenocortical Carcinoma

Author: Pape, Elise, primary, Feliu, Catherine, additional, Yéléhé-Okouma, Mélissa, additional, Colling, Natacha, additional, Djerada, Zoubir, additional, Gambier, Nicolas, additional, Weryha, Georges, additional, and Scala-Bertola, Julien, additional
Published: 2017
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39. The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations

Author: Castinetti, Frederic, primary, Maia, Ana Luiza, additional, Peczkowska, Mariola, additional, Barontini, Marta, additional, Hasse-Lazar, Kornelia, additional, Links, Thera P, additional, Toledo, Rodrigo A, additional, Dvorakova, Sarka, additional, Mian, Caterina, additional, Bugalho, Maria Joao, additional, Zovato, Stefania, additional, Alevizaki, Maria, additional, Kvachenyuk, Andrei, additional, Bausch, Birke, additional, Loli, Paola, additional, Bergmann, Simona R, additional, Patocs, Attila, additional, Pfeifer, Marija, additional, Costa, Josefina Biarnes, additional, von Dobschuetz, Ernst, additional, Letizia, Claudio, additional, Valk, Gerlof, additional, Barczynski, Marcin, additional, Czetwertynska, Malgorzata, additional, Plukker, John T M, additional, Sartorato, Paola, additional, Zelinka, Tomas, additional, Vlcek, Petr, additional, Yaremchuk, Svetlana, additional, Weryha, Georges, additional, Canu, Letizia, additional, Wohllk, Nelson, additional, Sebag, Frederic, additional, Walz, Martin K, additional, Eng, Charis, additional, and Neumann, Hartmut P H, additional
Published: 2017
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40. Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

Author: Catherine Cardot-Bauters, Olivier Chabre, B. Delemer, Emilie Castermans, Eric Clauser, Michel Rodier, Georges Weryha, M.F. Odou, Alain Calender, F. Borson-Chazot, Abderrahmane Bourredjem, F Schillo, H. Du Boullay, Jean-Marc Kuhn, Véronique Kerlan, Anne Barlier, Catherine Lombard-Bohas, P. Lecomte, S. Giraud, B. Goichot, Albert Beckers, Sophie Christin-Maitre, I. Guilhem, F. Archambeaud, A. Tabarin, Hélène Bihan, Eric Pasmant, Jean-Louis Sadoul, Philippe Chanson, Patricia Niccoli, Julien Thevenon, Jérôme Bertherat, Vincent Rohmer, Pierre Goudet, Marc Le Renard, Lionel Groussin, P. Caron, N. Bourcigaux, Christine Binquet, Eric Baudin, Bruno Vergès, Laurence Faivre, Philippe Ruszniewski, M. Le Bras, Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques (CIC-EC), Université de Bourgogne (UB)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, equipe 4, Centre de Recherche en Cancérologie de Lyon (CRCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de génétique et de physiologie moléculaire et cellulaire (CGPhiMC), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Service de gastro-entérologie et assistance nutritive, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'Endocrinologie - Diabète - Nutrition [Reims], Université de Reims Champagne-Ardenne (URCA)-Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), centre hospitalier universitaire de liège, Service d'endocrinologie clinique, CHU Pontchaillou [Rennes], Service d'Endocrinologie (ANGERS - Endocrino), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de médecine interne et de nutrition, Hôpital de Hautepierre [Strasbourg], Médecine nucléaire, Département d'imagerie médicale [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Centre de consultations de pathologies professionnelles [CHRU Nancy] (CCPP), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service d'Endocrinologie [CHRU Nancy], Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Service d'Endocrinologie, Diabétologie et Maladies Métaboliques (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Cyanobactéries des milieux aquatiques tropicaux peu profonds. Rôles et contrôles (CYROCO), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Hôpital Edouard Herriot [CHU - HCL], Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-Université de Brest (UBO), FHU TRANSLAD (CHU de Dijon), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Hôpital Edouard Herriot [CHU - HCL], Laboratoire des Procédés d'Élaboration des Réactifs Fonctionnels (PERF), Ecole Nationale Supérieure de Chimie de Lille (ENSCL), Eq 4, Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-Centre de médecine nucléaire, Fédération d'endocrinologie-Groupement hospitalier Lyon-Est-Fédération d'endocrinologie-Groupement hospitalier Lyon-Est, CHU Lyon, Service d'Endocrinologie (GRENOBLE - Endocrino), CHU Grenoble, Institut Cochin (UMR_S567 / UMR 8104), Stress Oxydant et Pathologies Métaboliques (SOPAM), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Pierre Aigrain (LPA), Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Université de Brest (UBO)-Université de Brest (UBO), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Agence nationale de la sécurité des systèmes d'information (ANSSI), Service d'Ophtalmologie (CHU de Dijon), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon [AP-HP]
Subjects: Oncology, Adult, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Adrenal Gland Neoplasm, Adrenal Gland Neoplasms, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, Pituitary neoplasm, Neuroendocrine tumors, Metastasis, Cohort Studies, Young Adult, Endocrinology, Age Distribution, Internal medicine, medicine, Multiple Endocrine Neoplasia Type 1, Humans, MEN1, Genetic Predisposition to Disease, Pituitary Neoplasms, Expressivity (genetics), Child, ComputingMilieux_MISCELLANEOUS, [SDV.BA]Life Sciences [q-bio]/Animal biology, Pituitary tumors, Bronchial Neoplasms, Infant, Newborn, Infant, General Medicine, Thymus Neoplasms, Heritability, Middle Aged, [SDV.SP]Life Sciences [q-bio]/Pharmaceutical sciences, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, Pedigree, Pancreatic Neoplasms, Neuroendocrine Tumors, Parathyroid Neoplasms, Child, Preschool, Female, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: BackgroundMEN1, which is secondary to the mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Most studies demonstrated the absence of direct genotype-phenotype correlations. The existence of a higher risk of death in the Groupe d'étude des Tumeurs Endocrines-cohort associated with a mutation in the JunD interacting domain suggests heterogeneity across families in disease expressivity. This study aims to assess the existence of modifying genetic factors by estimating the intrafamilial correlations and heritability of the six main tumor types in MEN1.MethodsThe study included 797 patients from 265 kindred and studied seven phenotypic criteria: parathyroid and pancreatic neuroendocrine tumors (NETs) and pituitary, adrenal, bronchial, and thymic (thNET) tumors and the presence of metastasis. Intrafamilial correlations and heritability estimates were calculated from family tree data using specific validated statistical analysis software.ResultsIntrafamilial correlations were significant and decreased along parental degrees distance for pituitary, adrenal and thNETs. The heritability of these three tumor types was consistently strong and significant with 64% (s.e.m.=0.13; Ps.e.m.=0.21; Ps.e.m.=0.41; P=0.006) for thNETs.ConclusionThe present study shows the existence of modifying genetic factors for thymus, adrenal, and pituitary MEN1 tumor types. The identification of at-risk subgroups of individuals within cohorts is the first step toward personalization of care. Next generation sequencing on this subset of tumors will help identify the molecular basis of MEN1 variable genetic expressivity.
Published: 2015
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41. The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations

Author: Castinetti, Frederic, Maia, Ana Luiza, Peczkowska, Mariola, Barontini, Marta, Hasse-Lazar, Kornelia, Links, Thera P, Toledo, Rodrigo A, Dvorakova, Sarka, Mian, Caterina, Bugalho, Maria Joao, Zovato, Stefania, Alevizaki, Maria, Kvachenyuk, Andrei, Bausch, Birke, Loli, Paola, Bergmann, Simona R, Patocs, Attila, Pfeifer, Marija, Costa, Josefina Biarnes, von Dobschuetz, Ernst, Letizia, Claudio, Valk, Gerlof, Barczynski, Marcin, Czetwertynska, Malgorzata, Plukker, John Th M, Sartorato, Paola, Zelinka, Tomas, Vlcek, Petr, Yaremchuk, Svetlana, Weryha, Georges, Canu, Letizia, Wohllk, Nelson, Sebag, Frederic, Walz, Martin K, Eng, Charis, Neumann, Hartmut P H, Castinetti, Frederic, Maia, Ana Luiza, Peczkowska, Mariola, Barontini, Marta, Hasse-Lazar, Kornelia, Links, Thera P, Toledo, Rodrigo A, Dvorakova, Sarka, Mian, Caterina, Bugalho, Maria Joao, Zovato, Stefania, Alevizaki, Maria, Kvachenyuk, Andrei, Bausch, Birke, Loli, Paola, Bergmann, Simona R, Patocs, Attila, Pfeifer, Marija, Costa, Josefina Biarnes, von Dobschuetz, Ernst, Letizia, Claudio, Valk, Gerlof, Barczynski, Marcin, Czetwertynska, Malgorzata, Plukker, John Th M, Sartorato, Paola, Zelinka, Tomas, Vlcek, Petr, Yaremchuk, Svetlana, Weryha, Georges, Canu, Letizia, Wohllk, Nelson, Sebag, Frederic, Walz, Martin K, Eng, Charis, and Neumann, Hartmut P H
Published: 2017

42. 8th Santorini Conference: Systems medicine and personalized health and therapy, Santorini, Greece, 3-5 October 2016

Author: Visvikis-Siest, S. (Sophie), Aldasoro Arguinano, A.-A. (Alex-Ander), Stathopoulou, M.G. (Maria G), Xie, T. (Ting), Petrelis, A. (Alexandros), Weryha, G. (Georges), Froguel, P. (Philippe), Meier-Abt, P. (Peter), Meyer, U. (Urs), Mlakar, V. (Vid), Ansari, M. (Marc), Papassotiropoulos, A. (Andreas), Dedoussis, G.V. (George), Pan, B. (Baishen), Bühlmann, R.P. (Roland P.), Noyer-Weidner, M. (Mario), Dietrich, P.-Y. (Pierre-Yves), Schaik, R.H.N. (Ron) van, Innocenti, F. (Francesco), März, W. (Winfried), Bekris, L. (Lynn), Deloukas, P. (Panagiotis), Visvikis-Siest, S. (Sophie), Aldasoro Arguinano, A.-A. (Alex-Ander), Stathopoulou, M.G. (Maria G), Xie, T. (Ting), Petrelis, A. (Alexandros), Weryha, G. (Georges), Froguel, P. (Philippe), Meier-Abt, P. (Peter), Meyer, U. (Urs), Mlakar, V. (Vid), Ansari, M. (Marc), Papassotiropoulos, A. (Andreas), Dedoussis, G.V. (George), Pan, B. (Baishen), Bühlmann, R.P. (Roland P.), Noyer-Weidner, M. (Mario), Dietrich, P.-Y. (Pierre-Yves), Schaik, R.H.N. (Ron) van, Innocenti, F. (Francesco), März, W. (Winfried), Bekris, L. (Lynn), and Deloukas, P. (Panagiotis)
Published: 2017
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43. Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention

Author: Bausch, Birke, Schiavi, Francesca, Ni, Ying, Welander, Jenny, Patocs, Attila, Ngeow, Joanne, Wellner, Ulrich, Malinoc, Angelica, Taschin, Elisa, Barbon, Giovanni, Lanza, Virginia, Soederkvist, Peter, Stenman, Adam, Larsson, Catharina, Svahn, Fredrika, Chen, Jin-Lian, Marquard, Jessica, Fraenkel, Merav, Walter, Martin A., Peczkowska, Mariola, Prejbisz, Aleksander, Jarzab, Barbara, Hasse-Lazar, Kornelia, Petersenn, Stephan, Moeller, Lars C., Meyer, Almuth, Reisch, Nicole, Trupka, Arnold, Brase, Christoph, Galiano, Matthias, Preuss, Simon F., Kwok, Pingling, Lendvai, Nikoletta, Berisha, Gani, Makay, Ozer, Boedeker, Carsten C., Weryha, Georges, Racz, Karoly, Januszewicz, Andrzej, Walz, Martin K., Gimm, Oliver, Opocher, Giuseppe, Eng, Charis, Neumann, Hartmut P. H., Bausch, Birke, Schiavi, Francesca, Ni, Ying, Welander, Jenny, Patocs, Attila, Ngeow, Joanne, Wellner, Ulrich, Malinoc, Angelica, Taschin, Elisa, Barbon, Giovanni, Lanza, Virginia, Soederkvist, Peter, Stenman, Adam, Larsson, Catharina, Svahn, Fredrika, Chen, Jin-Lian, Marquard, Jessica, Fraenkel, Merav, Walter, Martin A., Peczkowska, Mariola, Prejbisz, Aleksander, Jarzab, Barbara, Hasse-Lazar, Kornelia, Petersenn, Stephan, Moeller, Lars C., Meyer, Almuth, Reisch, Nicole, Trupka, Arnold, Brase, Christoph, Galiano, Matthias, Preuss, Simon F., Kwok, Pingling, Lendvai, Nikoletta, Berisha, Gani, Makay, Ozer, Boedeker, Carsten C., Weryha, Georges, Racz, Karoly, Januszewicz, Andrzej, Walz, Martin K., Gimm, Oliver, Opocher, Giuseppe, Eng, Charis, and Neumann, Hartmut P. H.
Abstract: IMPORTANCE Effective cancer prevention is based on accurate molecular diagnosis and results of genetic family screening, genotype-informed risk assessment, and tailored strategies for early diagnosis. The expanding etiology for hereditary pheochromocytomas and paragangliomas has recently included SDHA, TMEM127, MAX, and SDHAF2 as susceptibility genes. Clinical management guidelines for patients with germline mutations in these 4 newly included genes are lacking. OBJECTIVE To study the clinical spectra and age-related penetrance of individuals with mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes. DESIGN, SETTING, AND PATIENTS This study analyzed the prospective, longitudinally followed up European-American-Asian Pheochromocytoma-Paraganglioma Registry for prevalence of SDHA, TMEM127, MAX, and SDHAF2 germline mutation carriers from 1993 to 2016. Genetic predictive testing and clinical investigation by imaging from neck to pelvis was offered to mutation-positive registrants and their relatives to clinically characterize the pheochromocytoma/paraganglioma diseases associated with mutations of the 4 new genes. MAIN OUTCOMES AND MEASURES Prevalence and spectra of germline mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes were assessed. The clinical features of SDHA, TMEM127, MAX, and SDHAF2 disease were characterized. RESULTS Of 972 unrelated registrants without mutations in the classic pheochromocytoma- and paraganglioma-associated genes (632 female [65.0%] and 340 male [35.0%]; age range, 8-80; mean [SD] age, 41.0 [13.3] years), 58 (6.0%) carried germline mutations of interest, including 29 SDHA, 20 TMEM127, 8 MAX, and 1 SDHAF2. Fifty-three of 58 patients (91%) had familial, multiple, extra-adrenal, and/or malignant tumors and/or were younger than 40 years. Newly uncovered are 7 of 63 (11%) malignant pheochromocytomas and paragangliomas in SDHA and TMEM127 disease. SDHA disease occurred as early as 8 years of age. Extra-adrenal tumors occurred in 28 mutation c
Published: 2017

44. The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations

Author: Cancer, MS Interne Geneeskunde, Castinetti, Frederic, Maia, Ana Luiza, Peczkowska, Mariola, Barontini, Marta, Hasse-Lazar, Kornelia, Links, Thera P, Toledo, Rodrigo A, Dvorakova, Sarka, Mian, Caterina, Bugalho, Maria Joao, Zovato, Stefania, Alevizaki, Maria, Kvachenyuk, Andrei, Bausch, Birke, Loli, Paola, Bergmann, Simona R, Patocs, Attila, Pfeifer, Marija, Costa, Josefina Biarnes, von Dobschuetz, Ernst, Letizia, Claudio, Valk, Gerlof, Barczynski, Marcin, Czetwertynska, Malgorzata, Plukker, John Th M, Sartorato, Paola, Zelinka, Tomas, Vlcek, Petr, Yaremchuk, Svetlana, Weryha, Georges, Canu, Letizia, Wohllk, Nelson, Sebag, Frederic, Walz, Martin K, Eng, Charis, Neumann, Hartmut P H, Cancer, MS Interne Geneeskunde, Castinetti, Frederic, Maia, Ana Luiza, Peczkowska, Mariola, Barontini, Marta, Hasse-Lazar, Kornelia, Links, Thera P, Toledo, Rodrigo A, Dvorakova, Sarka, Mian, Caterina, Bugalho, Maria Joao, Zovato, Stefania, Alevizaki, Maria, Kvachenyuk, Andrei, Bausch, Birke, Loli, Paola, Bergmann, Simona R, Patocs, Attila, Pfeifer, Marija, Costa, Josefina Biarnes, von Dobschuetz, Ernst, Letizia, Claudio, Valk, Gerlof, Barczynski, Marcin, Czetwertynska, Malgorzata, Plukker, John Th M, Sartorato, Paola, Zelinka, Tomas, Vlcek, Petr, Yaremchuk, Svetlana, Weryha, Georges, Canu, Letizia, Wohllk, Nelson, Sebag, Frederic, Walz, Martin K, Eng, Charis, and Neumann, Hartmut P H
Published: 2017

45. Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention

Author: Kornelia Hasse-Lazar, Attila Patócs, Joanne Ngeow, Stephan Petersenn, Virginia Lanza, Almuth Meyer, Fredrika Svahn, Barbara Jarzab, Pingling Kwok, Angelica Malinoc, Aleksander Prejbisz, Peter Söderkvist, Martin A. Walter, Jenny Welander, Elisa Taschin, Francesca Schiavi, Georges Weryha, Nicole Reisch, Catharina Larsson, Charis Eng, Jinlian Chen, Károly Rácz, Hartmut P. H. Neumann, Ying Ni, Ulrich F. Wellner, Carsten Christof Boedeker, Arnold Trupka, Adam Stenman, Martin K. Walz, Matthias Galiano, Oliver Gimm, Giovanni Barbon, Özer Makay, Mariola Pęczkowska, Nikoletta Lendvai, Birke Bausch, Simon F. Preuss, Merav Fraenkel, Andrzej Januszewicz, Lars C. Moeller, Jessica Marquard, Christoph Brase, Gani Berisha, Giuseppe Opocher, and Ege Üniversitesi
Subjects: Male, 0301 basic medicine, Oncology, Cancer Research, Pathology, DNA Mutational Analysis, Adrenal Gland Neoplasms, Medizin, SDHA, Penetrance, 0302 clinical medicine, Paraganglioma, Longitudinal Studies, Prospective Studies, Registries, Age of Onset, Child, Predictive testing, Early Detection of Cancer, Aged, 80 and over, medicine.diagnostic_test, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Electron Transport Complex II, Neoplasms, Second Primary, Middle Aged, Magnetic Resonance Imaging, ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS, Head and Neck Neoplasms, 030220 oncology & carcinogenesis, Female, InformationSystems_MISCELLANEOUS, Adult, medicine.medical_specialty, Adolescent, Genotype, Pheochromocytoma, Mitochondrial Proteins, Young Adult, 03 medical and health sciences, Germline mutation, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Germ-Line Mutation, Aged, Genetic testing, Paraganglioma, Extra-Adrenal, business.industry, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, Membrane Proteins, medicine.disease, ComputingMethodologies_PATTERNRECOGNITION, 030104 developmental biology, Age of onset, business
Abstract: WOS: 000410676400011, PubMed ID: 28384794, IMPORTANCE Effective cancer prevention is based on accurate molecular diagnosis and results of genetic family screening, genotype-informed risk assessment, and tailored strategies for early diagnosis. The expanding etiology for hereditary pheochromocytomas and paragangliomas has recently included SDHA, TMEM127, MAX, and SDHAF2 as susceptibility genes. Clinical management guidelines for patients with germline mutations in these 4 newly included genes are lacking. OBJECTIVE To study the clinical spectra and age-related penetrance of individuals with mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes. DESIGN, SETTING, AND PATIENTS This study analyzed the prospective, longitudinally followed up European-American-Asian Pheochromocytoma-Paraganglioma Registry for prevalence of SDHA, TMEM127, MAX, and SDHAF2 germline mutation carriers from 1993 to 2016. Genetic predictive testing and clinical investigation by imaging from neck to pelvis was offered to mutation-positive registrants and their relatives to clinically characterize the pheochromocytoma/paraganglioma diseases associated with mutations of the 4 new genes. MAIN OUTCOMES AND MEASURES Prevalence and spectra of germline mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes were assessed. The clinical features of SDHA, TMEM127, MAX, and SDHAF2 disease were characterized. RESULTS Of 972 unrelated registrants without mutations in the classic pheochromocytoma- and paraganglioma-associated genes (632 female [65.0%] and 340 male [35.0%]; age range, 8-80; mean [SD] age, 41.0 [13.3] years), 58 (6.0%) carried germline mutations of interest, including 29 SDHA, 20 TMEM127, 8 MAX, and 1 SDHAF2. Fifty-three of 58 patients (91%) had familial, multiple, extra-adrenal, and/or malignant tumors and/or were younger than 40 years. Newly uncovered are 7 of 63 (11%) malignant pheochromocytomas and paragangliomas in SDHA and TMEM127 disease. SDHA disease occurred as early as 8 years of age. Extra-adrenal tumors occurred in 28 mutation carriers (48%) and in 23 of 29 SDHA mutation carriers (79%), particularly with head and neck paraganglioma. MAX disease occurred almost exclusively in the adrenal glands with frequently bilateral tumors. Penetrance in the largest subset, SDHA carriers, was 39% at 40 years of age and is statistically different in index patients (45%) vs mutation-carrying relatives (13%; P < .001). CONCLUSIONS AND RELEVANCE The SDHA, TMEM127, MAX, and SDHAF2 genes may contribute to hereditary pheochromocytoma and paraganglioma. Genetic testing is recommended in patients at clinically high risk if the classic genes are mutation negative. Gene-specific prevention and/or early detection requires regular, systematic whole-body investigation., Deutsche Krebshilfe Grant from the German Cancer Foundation [107995]; Arthur Blank Foundation; Sondra J and Stephen R Hardis Endowed Chair of Cancer Genomic Medicine at the Cleveland Clinic; Fondazione Cassa di Risparmio di Trento e Rovereto; Janos Bolyai Research FellowshipHungarian Academy of Sciences; National Medical Research CouncilMedical Research Council UK (MRC), This study was supported in part by Deutsche Krebshilfe Grant 107995 from the German Cancer Foundation (Dr Neumann), the Arthur Blank Foundation (Dr Eng), the Sondra J and Stephen R Hardis Endowed Chair of Cancer Genomic Medicine at the Cleveland Clinic, a grant of the Fondazione Cassa di Risparmio di Trento e Rovereto (Dr Opocher), the Janos Bolyai Research Fellowship (Dr Patocs), and a Transition Award from the National Medical Research Council (Dr Ngeow).
Published: 2017
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46. Intérêt de l'ostéodensitométrie chez les sujets chuteurs

Author: Patrick Seret, Olivier Beauchet, Véronique Breuil, Laure Chapuis, Pascal Guggenbuhl, Michel Brazier, Yves Rolland, Christian Marcelli, Maurice Audran, Michel Laroche, Patrice Fardellone, Karine Briot, Florence Trémollières, Georges Weryha, Cédric Annweiler, Jean-Bernard Gauvain, Thierry Thomas, Sauveur Bendavid, Philippe Orcel, Athanase Benetos, Olivier Hanon, Claude-Laurent Benhamou, Eric Lespessailles, Jean-Marc Feron, Valérie Bousson, François Puisieux, Brigitte Letombe, Gilles Berrut, Christian Roux, Martine Cohen-Solal, Eric Mallet, Jean-Claude Souberbielle, Hubert Blain, Bruno Sutter, Bernard Cortet, Roland Chapurlat, Patricia Dargent, Sami Kolta, Department of Geriatrics - Efficiency and Deficiency Laboratory, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Gérontopôle, Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Toulouse [Toulouse], Département de Médecine Interne et Gérontologie clinique, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de médecine interne et gérontologie clinique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), Imagerie Multimodale Multiéchelle et Modélisation du Tissu Osseux et articulaire (I3MTO), Université d'Orléans (UO), Service de médecine gériatrique, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de médecine aïgue gériatrique [Nantes], PRES Université Nantes Angers Le Mans (UNAM)-Centre hospitalier universitaire de Nantes (CHU Nantes), Groupe d'Études Remodelage Osseux et bioMatériaux (GEROM), Université d'Angers (UA), Médecine générale, Inconnu, Service de radiologie Ostéo-Articulaire, Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Caractérisation du Tissu Osseux par Imagerie : techniques et applications, Service de rhumatologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de rhumatologie, CHU Amiens-Picardie, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Centre hospitalier de Vitré, Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Os et articulations, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de rhumatologie[Lille], Hôpital Roger Salengro [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Mécanismes physiologiques et conséquences des calcifications cardiovasculaires: rôle des remodelages cardiovasculaires et osseux, Université de Picardie Jules Verne (UPJV)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Saint-Antoine [AP-HP], Centre de médecine gériatrique, Centre Hospitalier Régional d'Orléans (CHRO), Foie, métabolismes et cancer, Université de Rennes 1 (UR1), 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 ), AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Centre de rhumatologie, CHU Purpan, Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de référence des maladies rares du calcium et du phosphore, CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Service de Rhumatologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Service de gériatrie, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de recherche Croissance et signalisation (UMR_S 845), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Calot, Institut Calot [Fondation Hopale], Centre de ménopause, Service d'Endocrinologie [CHRU Nancy], Biologie intégrative du tissu osseux, Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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 ), Centre de Rhumatologie [CHU Toulouse], Pôle Inflammation, infection, immunologie et loco-moteur [CHU Toulouse] (Pôle I3LM Toulouse), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Biologie Intégrative du Tissu Osseux (LBTO), Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Hôpital Paule de Viguier, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Gérontopôle de Toulouse, CHU Toulouse [Toulouse], CHU Angers, Université d'Angers ( UA ) -CHU Angers, Imagerie Multimodale Multiéchelle et Modélisation du Tissu Osseux et articulaire ( I3MTO ), Université d'Orléans ( UO ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), PRES Université Nantes Angers Le Mans ( UNAM ) -Centre hospitalier universitaire de Nantes ( CHU Nantes ), Remodelage osseux et biomatériaux, Université d'Angers ( UA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], CHU Nice-Hôpital l'Archet, Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases ( LYOS ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Hôpital Roger Salengro-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Centre de recherche en épidémiologie et santé des populations ( CESP ), Université de Versailles Saint-Quentin-en-Yvelines ( UVSQ ) -Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université de Picardie Jules Verne ( UPJV ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de chirurgie orthopédique, CHU Saint-Antoine [APHP], Centre Hospitalier Régional d'Orléans ( CHR ), Université de Rennes 1 ( UR1 ), 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 ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), CHU Caen, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Lariboisière, Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Centre de recherche Croissance et signalisation ( UMR_S 845 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), and Université Jean Monnet [Saint-Étienne] ( UJM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM )
Subjects: [ SDV.MHEP.RSOA ] Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, Rheumatology, Ostéodensitométrie, Prise en charge, [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, Ostéoporose, Recommandations, Chute, Fragilité
Abstract: National audience; La présente revue de la littérature a pour objectif d'argumenter les nouvelles recommandations françaises publiées en 2012 retenant le risque de chute, évalué par l'antécédent de chute dans la dernière année, comme indication de la mesure de la densité minérale osseuse (DMO) par l'absorptiométrie biphotonique par rayons X (DXA). Cette recommandation repose sur le fait que premièrement, l'ostéoporose et le risque de chute représentent les deux premiers facteurs de risque de fracture non vertébrale après la ménopause. Deuxièmement, la mesure de la DMO par DXA apporte une information significative sur le risque de fracture, indépendamment du risque de chute. Ainsi, un sujet chuteur aura d'autant plus de risque de se fracturer qu'il aura une DMO basse. Troisièmement, les traitements anti-ostéoporotiques n'ont montré une efficacité anti-fracturaire qu'en cas d'ostéoporose ostéodensitométrique. Quatrièmement, la prévalence de l'ostéoporose est élevée chez les sujets chuteurs d'autant que ceux-ci sont fragiles [chutes répétées, sarcopénie (faible masse et force musculaire), réduction de mobilité, perte de poids, en particulier], ces facteurs étant des facteurs de risque communs d'ostéoporose et de chute. Cependant, l'indication de la DXA doit être nuancée chez les sujets chuteurs dont l'espérance de vie est limitée, les traitements n'ayant montré une efficacité anti-fracturaire qu'après 12 mois d'administration et en cas de faible accessibilité à la DXA (éloignement, patients dépendants, ayant une altération cognitive sévère par exemple). Des travaux sont souhaitables pour mieux définir comment intégrer le risque de chute et la fragilité dans l'évaluation du risque de fracture par la DMO et le score FRAX®
Published: 2014
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47. Patients lost to follow-up in acromegaly: results of the ACROSPECT study

Author: Yves Reznik, B. Delemer, C Reines, P. Chanson, Christine Cortet-Rudelli, Françoise Borson-Chazot, Georges Weryha, I. Raingeard, L Foubert, Frederic Castinetti, A. Tabarin, Ségolène Bisot-Locard, and Olivier Chabre
Subjects: Adenoma, Adult, Male, Pediatrics, medicine.medical_specialty, Chronic condition, Adolescent, Endocrinology, Diabetes and Metabolism, Disease, Hospital records, Medical Records, Cohort Studies, Tertiary Care Centers, Endocrinology, Internal medicine, Acromegaly, medicine, Humans, Registries, Lost to follow-up, Child, Aged, Retrospective Studies, Shared care, business.industry, General Medicine, medicine.disease, Cross-Sectional Studies, Disease Progression, Population study, Observational study, Female, Lost to Follow-Up, France, Growth Hormone-Secreting Pituitary Adenoma, Neoplasm Recurrence, Local, business
Abstract: ObjectiveThe complex management of acromegaly has transformed this disease into a chronic condition, with the risk of patients being lost to follow-up. The objective of this study was to estimate the proportion of acromegalic patients lost to follow-up in France and to determine the impact that abandoning follow-up has on the disease and its management.DesignACROSPECT was a French national, multicentre, cross-sectional, observational study.MethodsAcromegalic patients were considered lost to follow-up if no new information had been entered in their hospital records during the previous 2 years. They were traced where possible, and data were collected by means of a recall visit or questionnaire.ResultsIn the study population, 21% of the 2392 acromegalic patients initially followed in 25 tertiary endocrinology centres were lost to follow-up. At their last follow-up visit, 30% were uncontrolled, 33% were receiving medical therapy and 53% had residual tumour. Of the 362 traced, 62 had died and 77% were receiving follow-up elsewhere; the leading reason for abandoning follow-up was that they had not been informed that it was necessary. Our analysis of the questionnaires suggests that they were not receiving optimal follow-up.ConclusionsThis study underlines the need to better inform acromegalic patients of the need for long-term follow-up, the absence of which could be detrimental to patients' health, and to develop shared care for what must now be regarded as a chronic disease.
Published: 2014

48. Do Estrogens Effectively Prevent Osteoporosis-Related Fractures?

Author: M. L. Brandi, Jean-Marc Kaufman, Maurice Audran, Jean-Yves Reginster, Georges Weryha, EM Lemmel, Olivier Bruyère, JP Devogelaer, Carlo Gennari, Bernard Avouac, Jean-Jacques Body, Luc Vanhaelst, and G. Bouvenot
Subjects: Bone mineral, medicine.medical_specialty, Hip fracture, business.industry, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Osteoporosis, Hormone replacement therapy (menopause), medicine.disease, Surgery, law.invention, Menopause, Clinical trial, Endocrinology, medicine.anatomical_structure, Randomized controlled trial, law, Internal medicine, medicine, Orthopedics and Sports Medicine, Cortical bone, business
Abstract: Since Albright, [1] some 60 years ago, reported the benefi-cial effects of estrogens for decreasing urinary calcium ex-cretion and suggested that these harmones might be usefulin preventing postmenopausal osteoporosis, estrogen re-placement therapy (ERT) has been consistently regarded asthe first choice for prevention of trabecular and corticalbone loss in postmenopausal women [2–5]. However, seri-ous controversies remain over the cost/effectiveness oftreating every woman at the time of menopause [6], theoptimal timing for starting ERT [5], the minimal effectivedose of ERT acting on bone [7], and the duration of ERTneeded to prevent osteoporotic fractures [8]. The effective-ness of ERT for preventing osteoporosis-related fractures isundisputed and requirements for marketing authorizationfor ERT products have lightened compared with currentrequests for other therapeutic medications developed in thisfield [9, 10]. However, although the skeletal benefits ofERT for preventing trabecular or cortical bone loss canhardly be challenged, one might be wary of published evi-dence that prolonged ERT use unequivocally reduces therisk of hip fracture. Controlled clinical trials and systematicreviews were located using Medline 1970–1999 andEMBASE 1980–1999. Since 1985 we have searched scien-tific journals on bone and bibliographies of review articles.All prospective controlled trials were included for evalua-tion of the effects of hormone replacement therapy (HRT)on bone loss. A total of 57 prospective controlled trials wereidentified, 46 of which were randomized clinical trials(RCTs) and 15 were double blinded. All clinical trials as-sessing the effects of HRT on fracture rates were consid-ered. Two RCTs and one systematic review were identified[11].In the 46 randomized controlled trials comparing estro-gen (with or without progestins) (HRT) with placebo orcalcium on bone loss prevention, the study population var-ied from 14 to 875 women and the duration was from .5 to10 years. In general, they drew similar conclusions, i.e, thatestrogen intervention reduces the rate of postmenopausalbone loss at trabecular and cortical sites. An early double-blind trial [12] reported the preventive effects of HRT oncortical (metacarpal) bone loss for up to 10 years. Morerecent double-blind, placebo-controlled, randomized clini-cal trials confirmed these findings for oral [13], percutane-ous [14, 15], or transdermal [16] estrogens at the spine [13,14, 16], the forearm [16], and/or the hip [13, 16] for up to3 years. Two prospective open studies [17, 18] showedsimilar results for estrogen implants after 1 year. Whenstandardized for technique used for bone mineral density(BMD) assessment, the magnitude of the point estimatedifferences between the HRT and the control group variedgreatly from one study to another, depending upon the doseof HRT used (dose-related effect on bone mass in most
Published: 2000
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49. A comprehensive fracture prevention strategy in older adults : the European union geriatric medicine society (EUGMS) statement

Author: Blain, H., Masud, T., Dargent-Molina, P., Martin, F. C., Rosendahl, Erik, van der Velde, N., Bousquet, J., Benetos, A., Cooper, C., Kanis, J. A., Reginster, J. Y., Rizzoli, R., Cortet, B., Barbagallo, M., Dreinhöfer, K., Vellas, B., Maggi, S., Strandberg, T., Alvarez, M. N., Annweiler, C., Bernard, P. -L, Beswetherick, N., Bischoff-Ferrari, H. A., Bloch, F., Boddaert, J., Bonnefoy, M., Bousson, V., Bourdel-Marchasson, I., Capisizu, A., Che, H., Clara, J. G., Combe, B., Delignieres, D., Eklund, Patrik, Emmelot-Vonk, M., Freiberger, E., Gauvain, J. -B, Goswami, N., Guldemond, N., Herrero, A. C., Joel, M. -E, Jonsdottir, A. B., Kemoun, G., Kiss, I., Kolk, H., Kowalski, M. L., Krajcik, S., Kutsal, Y. G., Lauretani, F., Macijauskiene, J., Mellingsaeter, M., Morel, J., Mourey, F., Nourashemi, F., Nyakas, C., Puisieux, F., Rambourg, P., Ramirez, A. G., Rapp, K., Rolland, Y., Ryg, J., Sahota, O., Snoeijs, S., Stephan, Y., Thomas, E., Todd, C., Treml, J., Adachi, R., Agnusdei, D., Body, J. -J, Breuil, V., Bruyere, O., Burckardt, P., Cannata-Andia, J. B., Carey, J., Chan, D. -C, Chapuis, L., Chevalley, T., Cohen-Solal, M., Dawson-Hughes, B., Dennison, E. M., Devogelaer, J. -P, Fardellone, P., Feron, J. -M, Perez, A. D., Felsenberg, D., Glueer, C., Harvey, N., Hiligsman, M., Javaid, M. K., Jorgensen, N. R., Kendler, D., Kraenzlin, M., Laroche, M., Legrand, E., Leslie, W. D., Lespessailles, E., Lewiecki, E. M., Nakamura, T., Papaioannou, A., Roux, C., Silverman, S., Henriquez, M. S., Thomas, T., Vasikaran, S., Watts, N. B., Weryha, G., Blain, H., Masud, T., Dargent-Molina, P., Martin, F. C., Rosendahl, Erik, van der Velde, N., Bousquet, J., Benetos, A., Cooper, C., Kanis, J. A., Reginster, J. Y., Rizzoli, R., Cortet, B., Barbagallo, M., Dreinhöfer, K., Vellas, B., Maggi, S., Strandberg, T., Alvarez, M. N., Annweiler, C., Bernard, P. -L, Beswetherick, N., Bischoff-Ferrari, H. A., Bloch, F., Boddaert, J., Bonnefoy, M., Bousson, V., Bourdel-Marchasson, I., Capisizu, A., Che, H., Clara, J. G., Combe, B., Delignieres, D., Eklund, Patrik, Emmelot-Vonk, M., Freiberger, E., Gauvain, J. -B, Goswami, N., Guldemond, N., Herrero, A. C., Joel, M. -E, Jonsdottir, A. B., Kemoun, G., Kiss, I., Kolk, H., Kowalski, M. L., Krajcik, S., Kutsal, Y. G., Lauretani, F., Macijauskiene, J., Mellingsaeter, M., Morel, J., Mourey, F., Nourashemi, F., Nyakas, C., Puisieux, F., Rambourg, P., Ramirez, A. G., Rapp, K., Rolland, Y., Ryg, J., Sahota, O., Snoeijs, S., Stephan, Y., Thomas, E., Todd, C., Treml, J., Adachi, R., Agnusdei, D., Body, J. -J, Breuil, V., Bruyere, O., Burckardt, P., Cannata-Andia, J. B., Carey, J., Chan, D. -C, Chapuis, L., Chevalley, T., Cohen-Solal, M., Dawson-Hughes, B., Dennison, E. M., Devogelaer, J. -P, Fardellone, P., Feron, J. -M, Perez, A. D., Felsenberg, D., Glueer, C., Harvey, N., Hiligsman, M., Javaid, M. K., Jorgensen, N. R., Kendler, D., Kraenzlin, M., Laroche, M., Legrand, E., Leslie, W. D., Lespessailles, E., Lewiecki, E. M., Nakamura, T., Papaioannou, A., Roux, C., Silverman, S., Henriquez, M. S., Thomas, T., Vasikaran, S., Watts, N. B., and Weryha, G.
Abstract: Prevention of fragility fractures in older people has become a public health priority, although the most appropriate and cost-effective strategy remains unclear. In the present statement, the Interest group on falls and fracture prevention of the European union geriatric medicine society (EUGMS), in collaboration with the International association of gerontology and geriatrics for the European region (IAGG-ER), the European union of medical specialists (EUMS), the Fragility fracture network (FFN), the International osteoporosis foundation (IOF) - European society for clinical and economic aspects of osteoporosis and osteoarthritis (ECCEO), outlines its views on the main points in the current debate in relation to the primary and secondary prevention of falls, the diagnosis and treatment of bone fragility, and the place of combined falls and fracture liaison services for fracture prevention in older people.
Published: 2016
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50. A comprehensive fracture prevention strategy in older adults: The European union geriatric medicine society (EUGMS) statement

Author: MS Geriatrie, Circulatory Health, Blain, H., Masud, T., Dargent-Molina, P., Martin, F. C., Rosendahl, E., van der Velde, N., Bousquet, J., Benetos, A., Cooper, C., Kanis, J. A., Reginster, J. Y., Rizzoli, R., Cortet, B., Barbagallo, M., Dreinhöfer, K., Vellas, B., Maggi, S., Strandberg, T., Alvarez, M. N., Annweiler, C., Bernard, P. L., Beswetherick, N., Bischoff-Ferrari, H. A., Bloch, F., Boddaert, J., Bonnefoy, M., Bousson, V., Bourdel-Marchasson, I., Capisizu, A., Che, H., Clara, J. G., Combe, B., Delignieres, D., Eklund, P., Emmelot-Vonk, M., Freiberger, E., Gauvain, J. B., Goswami, N., Guldemond, N., Herrero, C., Joël, M. E., Jónsdóttir, A. B., Kemoun, G., Kiss, I., Kolk, H., Kowalski, M. L., Krajcík, Kutsal, Y. G., Lauretani, F., Macijauskienė, J., Mellingsæter, M., Morel, J., Mourey, F., Nourashemi, F., Nyakas, C., Puisieux, F., Rambourg, P., Ramírez, A. G., Rapp, K., Rolland, Y., Ryg, J., Sahota, O., Snoeijs, S., Stephan, Y., Thomas, E., Todd, C., Treml, J., Adachi, R., Agnusdei, D., Body, J. J., Breuil, V., Bruyère, O., Burckardt, P., Cannata-Andia, J. B., Carey, J., Chan, D. C., Chapuis, L., Chevalley, T., Cohen-Solal, M., Dawson-Hughes, B., Dennison, E. M., Devogelaer, J. P., Fardellone, P., Féron, J. M., Perez, A. D., Felsenberg, D., Glueer, C., Harvey, N., Hiligsman, M., Javaid, M. K., Jörgensen, N. R., Kendler, D., Kraenzlin, M., Laroche, M., Legrand, E., Leslie, W. D., Lespessailles, E., Lewiecki, E. M., Nakamura, T., Papaioannou, A., Roux, C., Silverman, S., Henriquez, M. S., Thomas, T., Vasikaran, S., Watts, N. B., Weryha, G., MS Geriatrie, Circulatory Health, Blain, H., Masud, T., Dargent-Molina, P., Martin, F. C., Rosendahl, E., van der Velde, N., Bousquet, J., Benetos, A., Cooper, C., Kanis, J. A., Reginster, J. Y., Rizzoli, R., Cortet, B., Barbagallo, M., Dreinhöfer, K., Vellas, B., Maggi, S., Strandberg, T., Alvarez, M. N., Annweiler, C., Bernard, P. L., Beswetherick, N., Bischoff-Ferrari, H. A., Bloch, F., Boddaert, J., Bonnefoy, M., Bousson, V., Bourdel-Marchasson, I., Capisizu, A., Che, H., Clara, J. G., Combe, B., Delignieres, D., Eklund, P., Emmelot-Vonk, M., Freiberger, E., Gauvain, J. B., Goswami, N., Guldemond, N., Herrero, C., Joël, M. E., Jónsdóttir, A. B., Kemoun, G., Kiss, I., Kolk, H., Kowalski, M. L., Krajcík, Kutsal, Y. G., Lauretani, F., Macijauskienė, J., Mellingsæter, M., Morel, J., Mourey, F., Nourashemi, F., Nyakas, C., Puisieux, F., Rambourg, P., Ramírez, A. G., Rapp, K., Rolland, Y., Ryg, J., Sahota, O., Snoeijs, S., Stephan, Y., Thomas, E., Todd, C., Treml, J., Adachi, R., Agnusdei, D., Body, J. J., Breuil, V., Bruyère, O., Burckardt, P., Cannata-Andia, J. B., Carey, J., Chan, D. C., Chapuis, L., Chevalley, T., Cohen-Solal, M., Dawson-Hughes, B., Dennison, E. M., Devogelaer, J. P., Fardellone, P., Féron, J. M., Perez, A. D., Felsenberg, D., Glueer, C., Harvey, N., Hiligsman, M., Javaid, M. K., Jörgensen, N. R., Kendler, D., Kraenzlin, M., Laroche, M., Legrand, E., Leslie, W. D., Lespessailles, E., Lewiecki, E. M., Nakamura, T., Papaioannou, A., Roux, C., Silverman, S., Henriquez, M. S., Thomas, T., Vasikaran, S., Watts, N. B., and Weryha, G.
Published: 2016

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