Constitutional bone diseases

– Refracture and mortality following hospitalization for severe osteoporotic fractures: The Fractos Study.
Christian Roux, Thierry Thomas, Julien Paccou, Geoffray Bizouard, Anne Crochard, Emese Toth, Magali Lemaitre, Frédérique Maurel, Laure Perrin, Florence Tubach
JBMR Plus, 2021 May 14, PMID: 34258503 PMCID: PMC8260818 DOI: 10.1002/jbm4.10507

– The Causes of Hypo- and Hyperphosphatemia in Humans.
Eugénie Koumakis, Catherine Cormier, Christian Roux, Karine Briot
Calcif Tissue Int, 2021 Jan, PMID: 32285168 DOI: 10.1007/s00223-020-00664-9

– The French multicentre elevated bone mass study: prevalence and causes.
J Paccou, R-M Javier, I Henry-Desailly, C Ternynck, A Nottez, I Legroux-Gérot, F Robin, P Fardellone, E Lespessailles, C Roux, P Guggenbuhl, S Kolta, B Cortet
Osteoporos Int, 2021 Sep, PMID: 33655400 DOI: 10.1007/s00198-021-05898-3

– Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
Dubail J, Brunelle P, Baujat G, Huber C, Doyard M, Michot C, Chavassieux P, Khairouni A, Topouchian V, Monnot S, Koumakis E, Cormier-Daire V.
J Bone Miner Res, 2020 Aug, PMID: 32181939 DOI: 10.1002/jbmr.4011

– Real-world care for individuals aged over fifty with fractures in France: Evidence for a wide care gap-The EPIFRACT Study.
Karine Briot, Laurent Grange, Bernard Cortet, Jean-Marc Feron, Pierre Chauvin, Alain Coulomb, Françoise Alliot-Launois, Rahma Sellami, Chantal Touboul, Laure Perrin, Jean-Michel Joubert, Robert Launois
Joint Bone Spine, 2020 Oct, PMID: 32387150 DOI: 10.1016/j.jbspin.2020.04.007

– Fragility fractures in France: epidemiology, characteristics and quality of life (the EPIFRACT study).
Bernard Cortet, Pierre Chauvin, Jean-Marc Feron, Laurent Grange, Alain Coulomb, Robert Launois, Françoise Alliot-Launois, Rahma Sellami, Chantal Touboul, Benoît Vincent, Jean-Michel Joubert, Karine Briot
Arch Osteoporos, 2020 Mar 13, PMID: 32170512 DOI: 10.1007/s11657-019-0674-2

– Alendronate or Zoledronic acid do not impair wound healing after tooth extraction in postmenopausal women with osteoporosis.
Philippe Lesclous, Alexandra Cloitre, Sylvain Catros, Laurent Devoize, Béatrice Louvet, Cécile Châtel, Frantz Foissac, Christian Roux
Bone, 2020 Aug, PMID: 32404281 DOI: 10.1016/j.bone.2020.115412

– Vitamin D Supplementation in France in patients with or at risk for osteoporosis: Recent data and new practices.
Jean-Claude Souberbielle, Catherine Cormier, Etienne Cavalier, Véronique Breuil, Françoise Debiais, Patrice Fardellone, Pascal Guggenbuhl, Rose-Marie Javier, Erick Legrand, Eric Lespessailles, Julien Paccou, Thierry Thomas, Bernard Cortet, au nom du Groupe de recherche et d’information sur les ostéoporoses, (GRIO)
Joint Bone Spine, 2020 Jan, PMID: 31051244 DOI: 10.1016/j.jbspin.2019.04.004

– Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment.
M L Bianchi, N J Bishop, N Guañabens, C Hofmann, F Jakob, C Roux, M C Zillikens, Rare Bone Disease Action Group of the European Calcified Tissue Society
Osteoporos Int, 2020 Aug, PMID: 32162014 DOI: 10.1007/s00198-020-05345-9

– Novel function of PiT1/SLC20A1 in LPS-related inflammation and wound healing.
Koumakis, E ; Millet-Botti, J ; Benna, JE ; Leroy, C ; Boitez, V ; Codogno, P & al
Sci Rep, 2019 Feb 12, PMID: 30755642 PMCID: PMC6372663 DOI: 10.1038/s41598-018-37551-1

– Vertebral fractures cascade: potential causes and risk factors.
Che, H ; Breuil, V ; Cortet, B ; Paccou, J ; Thomas, T ; Chapuis, L & al
Osteoporos Int, 2019 Mar, PMID: 30519756 DOI: 10.1007/s00198-018-4793-1

– Measurement of Trabecular Bone Score of the Spine by Low-Dose Imaging System (EOS ^®): A Feasibility Study.
Kolta, S ; Etcheto, A ; Fechtenbaum, J ; Feydy, A ; Roux, C ; Briot, K
J Clin Densitom, Apr-Jun 2019, PMID: 30120025 DOI: 10.1016/j.jocd.2018.05.040

What is fibrodysplasia ossificans progressiva? What are the suggestive signs of the disease? What are the main differential diagnoses to be ruled out? How can the diagnosis be confirmed? What are the consequences of diagnostic error?
Pr David Genevieve, clinical geneticist at the department of medical genetics, rare diseases and personalised medicine at the university hospital of Montpellier, university professor at the faculty of medicine of Montpellier and coordinator of the reference center for developmental Anomalies and malformative syndromes for the South-East Occitania region, answers questions.
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What are the principles of radiological diagnosis of fibrodysplasia ossificans progressiva? What are the main differential diagnoses to be ruled out? What radiological follow-up should be proposed once the diagnosis has been established? What is the role of the radiologist in the management of patients in expert centers?
Dr Valérie Merzoug, radiologist attached to the radiology department B of the Cochin Hospital in Paris and to the paediatric radiology department of the Bicêtre Hospital in Kremlin-Bicêtre, answers the questions.
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What are the main clinical pictures encountered in adult patients with fibrodysplasia ossificans progressiva? What are the principles of care and its specificities for adult patients? Why refer these patients to an expert center? What are the advances to come for this rare disease?
Dr. Thomas Funck-Brentano, rheumatologist in the rheumatology department of the Lariboisière hospital in Paris, one of the constituent centers of the reference center for constitutional bone diseases, answers questions.
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What are the principles of care for children with fibrodysplasia ossificans progressiva? Are there atypical forms of the disease? What is the importance of early diagnosis and how to facilitate it? What are the advantages of being taken care of by a specialized care network? Where is the research on this rare disease?
Dr Geneviève Baujat, pediatrician, clinical geneticist and FOP referent in the medical genetics department at the Necker-Enfants Malades hospital in Paris, coordinating site of the reference center for constitutional bone diseases, answers questions.
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When and how do the first symptoms of  fibrodysplasia ossificans progressiva occur? What is the course of the disease? Why join a patient association? What are the objectives of the FOP France association?
Mr Fourmentin, father of a young patient with progressive fibrodysplasia ossificans and member of the FOP France association, answers questions.
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What is hypophosphatasia? What are the warning signs that should evoke this diagnosis, especially in children? How important is early diagnosis? What are the main differential diagnoses to be ruled out and the examinations to be performed to confirm the diagnosis?
Professor Agnès Linglart, pediatrician, university professor at the Paris-Saclay faculty of medicine, hospital practitioner, head of the pediatric endocrinology and diabetes department at Bicêtre hospital in Kremlin-Bicêtre and coordinator of the national reference center for rare diseases of calcium and phosphate metabolism from the OSCAR network, answers the questions.
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What are the different dental symptoms that patients with hypophosphatasia can present, what is the role of the dental surgeon? Is dental involvement systematic in hypophosphatasia? What tests should be carried out to confirm the diagnosis? What are the recommendations for the management of patients with this rare disease?
Dr Martin Biosse Duplan, dental surgeon, hospital practitioner in the oral medicine department of the Bretonneau hospital in Paris, reference center for rare diseases of calcium and phosphate metabolism in the OSCAR network, answers the questions .
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How does hypophosphatasia manifest in adult patients? How to differentiate hypophosphatasia from classic osteoporosis? What to do with an undiagnosed adult patient with low alkaline phosphatase? What are the treatment modalities for adult patients with this rare disease? How important are expert centers for the care of these patients?
Professor Christian Roux, rheumatologist, university professor, head of the rheumatology department at Cochin Hospital in Paris and head of the reference center for constitutional bone diseases in adults, answers questions.
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What are the treatment modalities for patients with hypophosphatasia? How is care organized for this pathology in France? What are the genetic procedures to be carried out? What are the prospects for research in this rare disease?
Dr Geneviève Baujat, pediatrician, clinical geneticist, hospital practitioner in the medical genetics department of the Necker-Enfants malades hospital in Paris and member of the HPP France consortium, answers questions
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How do the first symptoms of the disease arise? How to confirm the diagnosis? What care for young patients with hypophosphatasia? What genetic counseling for family members? What are the objectives of the hypophosphatasia Europe patient association?
Mrs. Rallu-Planchais, mother of a young patient with hypophosphatasia and president of the hypophosphatasia Europe patient association, answers questions.
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What are the specificities of Osteogenesis Imperfecta in children? What are the challenges of treating this disease in children? What is the importance of care within expert centers and coordinated follow-up by the various specialists? How to improve the quality of life of children with Osteogenesis Imperfecta?
Dr. Zagorka Pejin, orthopedic surgeon involved in the care of children with Osteogenesis Imperfecta and hospital practitioner in the pediatric orthopedic surgery and traumatology department of the Necker-Enfants malades hospital in Paris, answers questions.
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What is osteogenesis imperfecta or brittle bone disease? What is the mechanism of occurrence of this rare disease? What are the main suggestive symptoms? How to diagnose patients with osteogenesis imperfecta? What are the differential diagnoses to rule out?
Pr Valérie Cormier-Daire, clinical geneticist, university professor at Paris-Descartes University and hospital practitioner, head of the clinical genetics department at the Necker-Enfants malades hospital in Paris, coordinator of the reference center for constitutional bone diseases from the OSCAR network and an Inserm research group at the Imagine Institute, answers the questions.
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How do the first symptoms of the disease arise? How is the diagnosis made? How is the management of Osteogenesis Imperfecta evolving? What is the importance of maintaining a professional activity? Why join a patient association? What are the objectives of the Osteogenesis Imperfecta Association?
Mrs Alliot, patient with Osteogenesis Imperfecta and president of the AOI – Association de l’Ostéogenesis Imparfaite patient association, answers questions.
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What are the treatment challenges for adult patients with Osteogenesis Imperfecta? What is the benefit of regular rheumatological follow-up in adulthood? What are the main symptoms to watch out for? What is the importance of coordinated follow-up between the different specialists involved in care? How is the child-adult transition a key moment? What are the current avenues of research in Osteogenesis Imperfecta?
Dr Eugénie Koumakis, rheumatologist, hospital practitioner in the rheumatology department of the Cochin hospital in Paris and member of the OSCAR network, the healthcare network dedicated to rare diseases of bone, calcium and cartilage, answers questions.
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