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Osteoporosis: HELP
Articles from Paris
Based on 218 articles published since 2008

These are the 218 published articles about Osteoporosis that originated from Paris during 2008-2019.
+ Citations + Abstracts
Pages: 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9
1 Guideline The First European Evidence-based Consensus on Extra-intestinal Manifestations in Inflammatory Bowel Disease. 2016

Harbord, Marcus / Annese, Vito / Vavricka, Stephan R / Allez, Matthieu / Barreiro-de Acosta, Manuel / Boberg, Kirsten Muri / Burisch, Johan / De Vos, Martine / De Vries, Anne-Marie / Dick, Andrew D / Juillerat, Pascal / Karlsen, Tom H / Koutroubakis, Ioannis / Lakatos, Peter L / Orchard, Tim / Papay, Pavol / Raine, Tim / Reinshagen, Max / Thaci, Diamant / Tilg, Herbert / Carbonnel, Franck / Anonymous3360850. ·Department of Gastroenterology, Chelsea and Westminster NHS Foundation Trust, London, UK. · Department of Emergency, University Hospital Careggi, Florence, Italy. · Division of Gastroenterology and Hepatology, Triemli Hospital, Zurich, Switzerland. · Department of Gastroenterology, Hôpital Saint Louis, Sorbonne Paris-Cité University, Paris, France. · Department of Gastroenterology, University Hospital Santiago De Compostela, A Coruña, Spain. · Department of Transplantation Medicine, Division of Cancer Medicine, Surgery and Transplantation, Oslo University Hospital, Oslo, Norway Institute of Clinical Medicine, University of Oslo, Oslo, Norway. · Gastro Unit, Hvidovre University Hospital, Hvidovre, and Danish Centre for eHealth & Epidemiology, North Zealand University Hospital, Copenhagen, Denmark. · Department of Gastroenterology, University Hospital Ghent , Ghent, Belgium. · Department of Gastroenterology and Hepatology, University Medical Center Rotterdam, Rotterdam, The Netherlands. · Academic Unit of Ophthalmology, School of Clinical Sciences, Bristol, and National Institute for Health Research, Moorfield's Eye Hospital and UCL Institute of Ophthalmology, London, UK. · Clinic for Visceral Surgery and Medicine, University Hospital Bern, Bern, Switzerland. · Department of Gastroenterology, University Hospital Heraklion, Heraklion, Greece. · Department of Medicine I, Semmelweis University, Budapest, Hungary. · Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK. · Department of Internal Medicine, Hartmannspital Vienna, Vienna, Austria. · Department of Gastroenterology, Addenbrooke's Hospital, Cambridge, UK. · Medizinische Klinik I, Klinikum Braunschweig, Germany. · Comprehensive Center of Inflammation Medicine, University Hospital Schleswig Holstein, Lubeck, Germany. · Department of Internal Medicine, University Hospital Innsbruck, Innsbruck, Austria. · Service de Gastroentérologie CHU de Bicêtre, Université Paris Sud, Paris, France. ·J Crohns Colitis · Pubmed #26614685.

ABSTRACT: -- No abstract --

2 Editorial Oxysterols and phytosterols in human health. 2017

Massaad, Charbel / Iuliano, Luigi / Lizard, Gérard. ·Toxicology, Pharmacology and Cell Signalisation, UMR-S 1124, Université Paris Descartes, 45 rue des Saints Pères, 75270 Paris, France. Electronic address: charbel.massaad@parisdescartes.fr. · Vascular Biology & Mass Spectrometry Laboratory, Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Latina, Italy. Electronic address: luigi.iuliano@uniroma1.it. · 'Biochemistry of the Peroxisome, Inflammation and Lipid Metabolism' EA 7270, University Bourgogne Franche-Comté, Inserm, Dijon, France, France. Electronic address: gerard.lizard@u-bourgogne.fr. ·Chem Phys Lipids · Pubmed #28800872.

ABSTRACT: -- No abstract --

3 Editorial Updated recommendations on the management of glucocorticoid-induced osteoporosis. 2014

Orcel, Philippe. ·Service de Rhumatologie, Pôle Appareil Locomoteur, Hôpitaux Universitaires Saint-Louis, Lariboisière, Fernand-Widal (AP-HP), Université Paris-Diderot, Paris 7, Centre de référence Maladies Osseuses Constitutionnelles, 2, rue Ambroise-Paré, 75010 Paris, France. Electronic address: philippe.orcel@lrb.aphp.fr. ·Joint Bone Spine · Pubmed #25238949.

ABSTRACT: -- No abstract --

4 Review Muscle and Bone Health in Postmenopausal Women: Role of Protein and Vitamin D Supplementation Combined with Exercise Training. 2018

Agostini, Deborah / Zeppa Donati, Sabrina / Lucertini, Francesco / Annibalini, Giosuè / Gervasi, Marco / Ferri Marini, Carlo / Piccoli, Giovanni / Stocchi, Vilberto / Barbieri, Elena / Sestili, Piero. ·Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino 61029 (PU), Italy. deborah.agostini@uniurb.it. · Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino 61029 (PU), Italy. sabrina.zeppa@uniurb.it. · Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino 61029 (PU), Italy. francesco.lucertini@uniurb.it. · Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino 61029 (PU), Italy. giosue.annibalini@uniurb.it. · Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino 61029 (PU), Italy. marco.gervasi@uniurb.it. · Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino 61029 (PU), Italy. carlo.ferrimarini@uniurb.it. · Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino 61029 (PU), Italy. giovanni.piccoli@uniurb.it. · Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino 61029 (PU), Italy. vilberto.stocchi@uniurb.it. · Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino 61029 (PU), Italy. elena.barbieri@uniurb.it. · Interuniversity Institute of Myology (IIM), University of Urbino Carlo Bo, Urbino 61029 (PU), Italy. elena.barbieri@uniurb.it. · Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino 61029 (PU), Italy. piero.sestili@uniurb.it. ·Nutrients · Pubmed #30115856.

ABSTRACT: Menopause is an age-dependent physiological condition associated with a natural decline in oestrogen levels, which causes a progressive decrease of muscle mass and strength and bone density. Sarcopenia and osteoporosis often coexist in elderly people, with a prevalence of the latter in elderly women. The profound interaction between muscle and bone induces a negative resonance between the two tissues affected by these disorders worsening the quality of life in the postmenopausal period. It has been estimated that at least 1 in 3 women over age 50 will experience osteoporotic fractures, often requiring hospitalisation and long-term care, causing a large financial burden to health insurance systems. Hormonal replacement therapy is effective in osteoporosis prevention, but concerns have been raised with regard to its safety. On the whole, the increase in life expectancy for postmenopausal women along with the need to improve their quality of life makes it necessary to develop specific and safe therapeutic strategies, alternative to hormonal replacement therapy, targeting both sarcopenia and osteoporosis progression. This review will examine the rationale and the effects of dietary protein, vitamin D and calcium supplementation combined with a specifically-designed exercise training prescription as a strategy to counteract these postmenopausal-associated disorders.

5 Review Bone and glucocorticoids. 2018

Briot, Karine. ·Rheumatology department, Cochin Hospital, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France. Electronic address: karine.briot@aphp.fr. ·Ann Endocrinol (Paris) · Pubmed #29685453.

ABSTRACT: Corticosteroid-induced osteoporosis is the most common form of secondary osteoporosis and the most frequent cause of osteoporosis in young people. Bone loss and fracture risk increase rapidly after the initiation of corticosteroid therapy and are proportional to dose and treatment duration. The increase in fracture risk is not fully assessed by bone mineral density measurement, as it is also related to impaired bone quality and increased risk of falls. Prevention should be considered in all patients beginning corticosteroid therapy, especially as the underlying inflammation in itself impairs bone quality. Bisphosphonates and teriparatide have shown efficacy in the treatment of corticosteroid-induced osteoporosis. Several national and international guidelines are available to improve management of corticosteroid-induced osteoporosis, which remains inadequate. Duration of anti-osteoporotic treatment should be discussed at the individual level, depending on the subject's characteristics and on the progression of the underlying inflammation.

6 Review G protein-coupled receptors as anabolic drug targets in osteoporosis. 2018

Diepenhorst, Natalie / Rueda, Patricia / Cook, Anna E / Pastoureau, Philippe / Sabatini, Massimo / Langmead, Christopher J. ·Monash Institute of Pharmaceutical Sciences, Monash University, 381 Royal Parade, VIC 3052, Australia. · Therapeutic Innovation Pole of Immuno-Inflammatory Diseases, Institut de Recherches Servier, Suresnes, France. · Monash Institute of Pharmaceutical Sciences, Monash University, 381 Royal Parade, VIC 3052, Australia. Electronic address: chris.langmead@monash.edu. ·Pharmacol Ther · Pubmed #29080701.

ABSTRACT: Osteoporosis is a progressive bone disorder characterised by imbalance between bone building (anabolism) and resorption (catabolism). Most therapeutics target inhibition of osteoclast-mediated bone resorption, but more recent attention in early drug discovery has focussed on anabolic targets in osteoblasts or their precursors. Two marketed agents that display anabolic properties, strontium ranelate and teriparatide, mediate their actions via the G protein-coupled calcium-sensing and parathyroid hormone-1 receptors, respectively. This review explores their activity, the potential for improved therapeutics targeting these receptors and other putative anabolic GPCR targets, including Smoothened, Wnt/Frizzled, relaxin family peptide, adenosine, cannabinoid, prostaglandin and sphingosine-1-phosphate receptors.

7 Review Inflammatory diseases and bone fragility. 2017

Briot, K / Geusens, P / Em Bultink, I / Lems, W F / Roux, C. ·Department of Rheumatology, Cochin Hospital, Assistance-Publique-Hôpitaux de Paris, Paris, France. karine.briot@aphp.fr. · Hôpital Cochin, Service de Rhumatologie, 27, Rue du Faubourg, St. Jacques, 75014, Paris, France. karine.briot@aphp.fr. · INSERM UMR 1153, Paris, France. karine.briot@aphp.fr. · Department of Internal Medicine, Subdivision of Rheumatology, Maastricht University Medical Center, Maastricht, The Netherlands. · Hasselt University, Hasselt, Belgium. · Department of Rheumatology, Amsterdam Rheumatology and Immunology Center, VU University Medical Center, Amsterdam, The Netherlands. · Department of Rheumatology, Cochin Hospital, Assistance-Publique-Hôpitaux de Paris, Paris, France. · Hôpital Cochin, Service de Rhumatologie, 27, Rue du Faubourg, St. Jacques, 75014, Paris, France. · INSERM UMR 1153, Paris, France. · Paris Descartes University, Paris, France. ·Osteoporos Int · Pubmed #28916915.

ABSTRACT: Systemic osteoporosis and increased fracture rates have been described in chronic inflammatory diseases such as rheumatoid arthritis, spondyloarthritis, systemic lupus erythematosus, inflammatory bowel diseases, and chronic obstructive pulmonary disease. Most of these patients receive glucocorticoids, which have their own deleterious effects on bone. However, the other main determinant of bone fragility is the inflammation itself, as shown by the interactions between the inflammatory mediators, the actors of the immune system, and the bone remodelling. The inflammatory disease activity is thus on top of the other well-known osteoporotic risk factors in these patients. Optimal control of inflammation is part of the prevention of osteoporosis, and potent anti-inflammatory drugs have positive effects on surrogate markers of bone fragility. More data are needed to assess the anti-fracture efficacy of a tight control of inflammation in patients with a chronic inflammatory disorder. This review aimed at presenting different clinical aspects of inflammatory diseases which illustrate the relationships between inflammation and bone fragility.

8 Review Pregnancy-related fractures: a retrospective study of a French cohort of 52 patients and review of the literature. 2017

Laroche, M / Talibart, M / Cormier, C / Roux, C / Guggenbuhl, P / Degboe, Y. ·Department of Rheumatology, Toulouse University Hospital, Toulouse, France. laroche.m@chu-toulouse.fr. · Centre de Rhumatologie, Hôpital Pierre Paul Riquet, CHU Purpan, 1 place du Dr Baylac, 31059, Toulouse Cedex, France. laroche.m@chu-toulouse.fr. · Department of Rheumatology, Toulouse University Hospital, Toulouse, France. · Department of Rheumatology, Cochin University Hospital, Paris, France. · Department of Rheumatology, Rennes University Hospital, Amiens, France. ·Osteoporos Int · Pubmed #28879474.

ABSTRACT: A retrospective, multicentre study involving 52 patients was carried out to define the causes and characteristics of pregnancy-related osteoporosis. The mean number of vertebral fractures occurring during the last trimester of pregnancy or at the time of delivery was 3.8. This is often promoted by risk factors before or during pregnancy. INTRODUCTION: In order to define the causes or predisposing factors of pregnancy-related osteoporosis and its clinical, radiological and bone density characteristics, laboratory findings, course and outcome, we carried out a retrospective multicentre study. METHODS: The records of 52 women hospitalised over the last 10 years in the rheumatology departments of six French university hospitals and with a diagnosis of pregnancy-related osteoporosis were examined. RESULTS: The patients' mean age at time of fracture was 32.1 years. In 10 patients, the fractures had occurred during the last trimester of pregnancy, and in 36 at the time of delivery or during the first 2 months post-partum. The mean number of vertebral fractures was 3.8 ± 2.0. Thirty three of the 52 patients had a risk factor of low bone mass before pregnancy. Twelve had disorders or treatments (heparin) that might promote osteoporosis during pregnancy, while 14 had no trigger factors before or during pregnancy. Overall, phosphate and calcium levels were normal, except for hyperphosphoraemia in lactating women (90%). On DXA scan, osteoporosis predominated in the trabecular bone (spinal T-score - 3.4, hip T-score - 2). Only 10 patients had a repeat fracture, and the increase in bone mineral density during follow-up was considerable, and improved by bisphosphonates (annual gain + 10% in the spine) or teriparatide (+ 15%). CONCLUSIONS: Pregnancy-related osteoporosis gives rise to multiple vertebral fractures. It is often promoted by risk factors before or during pregnancy. Its mechanism is still unknown. Treatment with bisphosphonates or teriparatide appears to improve the recovery of bone mineral density.

9 Review Discontinuation of Denosumab therapy for osteoporosis: A systematic review and position statement by ECTS. 2017

Tsourdi, Elena / Langdahl, Bente / Cohen-Solal, Martine / Aubry-Rozier, Bérengere / Eriksen, Erik Fink / Guañabens, Nuria / Obermayer-Pietsch, Barbara / Ralston, Stuart H / Eastell, Richard / Zillikens, M Carola. ·Department of Medicine III, Technische Universität Dresden, Dresden, Germany; Center for Healthy Aging, Technische Universität Dresden, Dresden, Germany. · Medical Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark. · Inserm U1132 and University Paris-Diderot, Department of Rheumatology, Lariboisière Hospital, Paris, France. · Centre of bone diseases, Lausanne University Hospital, Lausanne, Switzerland. · Department of Clinical Endocrinology, Morbid Obesity and Preventive Medicine, Oslo University Hospital, Institute of Clinical Medicine, Oslo University, Oslo, Norway. · Department of Rheumatology, Metabolic Bone Diseases Unit, Hospital Clínic, Barcelona, IDIBAPS, CIBERehd, University of Barcelona, Barcelona, Spain. · Department of Internal Medicine, Division of Endocrinology and Diabetology, Medical University Graz, Austria; Center for Biomarker Research in Medicine (CBmed), Graz, Austria. · Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK. · Mellanby Centre for Bone Research, University of Sheffield, UK. · Bone Center, Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands. Electronic address: m.c.zillikens@erasmusmc.nl. ·Bone · Pubmed #28789921.

ABSTRACT: INTRODUCTION: The optimal duration of osteoporosis treatment is controversial. As opposed to bisphosphonates, denosumab does not incorporate into bone matrix and bone turnover is not suppressed after its cessation. Recent reports imply that denosumab discontinuation may lead to an increased risk of multiple vertebral fractures. METHODS: The European Calcified Tissue Society (ECTS) formed a working group to perform a systematic review of existing literature on the effects of stopping denosumab and provide advice on management. RESULTS: Data from phase 2 and 3 clinical trials underscore a rapid decrease of bone mineral density (BMD) and a steep increase in bone turnover markers (BTMs) after discontinuation of denosumab. Clinical case series report multiple vertebral fractures after discontinuation of denosumab and a renewed analysis of FREEDOM and FREEDOM Extension Trial suggests, albeit does not prove, that the risk of multiple vertebral fractures may be increased when denosumab is stopped due to a rebound increase in bone resorption. CONCLUSION: There appears to be an increased risk of multiple vertebral fractures after discontinuation of denosumab although strong evidence for such an effect and for measures to prevent the occurring bone loss is lacking. Clinicians and patients should be aware of this potential risk. Based on available data, a re-evaluation should be performed after 5years of denosumab treatment. Patients considered at high fracture risk should either continue denosumab therapy for up to 10years or be switched to an alternative treatment. For patients at low risk, a decision to discontinue denosumab could be made after 5years, but bisphosphonate therapy should be considered to reduce or prevent the rebound increase in bone turnover. However, since the optimal bisphosphonate regimen post-denosumab is currently unknown continuation of denosumab can also be considered until results from ongoing trials become available. Based on current data, denosumab should not be stopped without considering alternative treatment in order to prevent rapid BMD loss and a potential rebound in vertebral fracture risk.

10 Review MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum. 2017

Buers, Insa / Rice, Gillian I / Crow, Yanick J / Rutsch, Frank. ·1 Department of General Pediatrics, Muenster University Children's Hospital , Muenster, Germany . · 2 Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester , Manchester, United Kingdom . · 3 Laboratory of Neurogenetics and Neuroinflammation , INSERM UMR 1163, Paris, France . · 4 Paris Descartes-Sorbonne Paris Cité University , Institute Imagine, Paris, France . ·J Interferon Cytokine Res · Pubmed #28475458.

ABSTRACT: In 1973, Singleton and Merten described a new syndrome in 2 female probands with aortic and cardiac valve calcifications, early loss of secondary dentition, and widened medullary cavities of the phalanges. In 1984, Aicardi and Goutières defined a phenotype resembling congenital viral infection with basal ganglia calcification and increased protein content in the cerebrospinal fluid. Between 2006 and 2012, mutations in 6 different genes were described to be associated with Aicardi-Goutières syndrome, specifically-TREX1, RNASEH2A, RNASEH2B, RNASEH2C, ADAR, and SAMHD1. More recently, mutations in IFIH1 were reported in a variety of neuroimmunological phenotypes, including Aicardi-Goutières syndrome, while a specific Arg822Gln mutation in IFIH1 was described in 3 discrete families with Singleton-Merten syndrome (SMS). IFIH1 encodes for melanoma differentiation-associated gene 5 (MDA5), and all mutations identified to date have been associated with an enhanced interferon response in affected individuals. In this study, we present a male child demonstrating recurrent febrile episodes, spasticity, and basal ganglia calcification suggestive of Aicardi-Goutières syndrome, who carries the same Arg822Gln mutation in IFIH1 previously associated with SMS. We conclude that both diseases are part of the interferonopathy grouping and that the Arg822Gln mutation in IFIH1 can cause a spectrum of disease, including neurological involvement.

11 Review Imminent fracture risk. 2017

Roux, C / Briot, K. ·Paris Descartes University, Paris, France. christian.roux@aphp.fr. · Epidemiology and Biostatistics Sorbonne Paris Cité Research Center, UMR U1153, Paris, France. christian.roux@aphp.fr. · Department of Rheumatology, Cochin Hospital, Assistance-Publique-Hôpitaux de Paris, Paris, France. christian.roux@aphp.fr. · Epidemiology and Biostatistics Sorbonne Paris Cité Research Center, UMR U1153, Paris, France. · Department of Rheumatology, Cochin Hospital, Assistance-Publique-Hôpitaux de Paris, Paris, France. ·Osteoporos Int · Pubmed #28236126.

ABSTRACT: The clinical significance of osteoporosis is in the occurrence of fractures and re-fractures. The main risk factor of sustaining a fracture is a previous one, but a recent fracture is a better fracture risk factor than fracture history. The role of the recency of fracture has been shown for both vertebral and non-vertebral fracture risk. This imminent risk is explained by both bone-related factors (underlying osteoporosis) and fall-related factors (including those related to postfracture care). Such a short-term increased risk has been shown also in patients initiating corticosteroids and in frail osteoporotic subjects with central nervous system (CNS) diseases or drugs targeting CNS, and thus a high risk of falls. Patients with an imminent (i.e. 2 years) risk of fracture or refracture should be identified in priority in order to receive an immediate treatment and a program of fall prevention.

12 Review Low-trauma fractures without osteoporosis. 2017

Lespessailles, E / Cortet, B / Legrand, E / Guggenbuhl, P / Roux, C. ·Laboratoire I3MTO, Université d'Orléans, 4708, 45067, Orléans, EA, France. eric.lespessailles@chr-orleans.fr. · Regional Hospital of Orleans, 14 avenue de l'hopital, 45067, Orleans, Cedex 2, France. eric.lespessailles@chr-orleans.fr. · EA 4490 PMOI-Physiopathologie des Maladies Osseuses Inflammatoires, Université de Lille, 59000, Lille, France. · Service de Rhumatologie, CHU Lille, 59000, Lille, France. · Service de Rhumatologie, CHU d'Angers, 49933, Angers, France. · Service de Rhumatologie, CHU Rennes, 35203, Rennes, France. · , INSERM UMR 991, 35000, Rennes, France. · Faculté de Médecine, Université Rennes 1, 35043, Rennes, France. · INSERM U 1153, hôpital Cochin, Université Paris Descartes, Paris, France. ·Osteoporos Int · Pubmed #28161747.

ABSTRACT: In clinical practice, areal bone mineral density (aBMD) is usually measured using dual-energy X-ray absorptiometry (DXA) to assess bone status in patients with or without osteoporotic fracture. As BMD has a Gaussian distribution, it is difficult to define a cutoff for osteoporosis diagnosis. Based on epidemiological considerations, WHO defined a DXA-based osteoporosis diagnosis with a T-score <-2.5. However, the majority of individuals who have low-trauma fractures do not have osteoporosis with DXA (i.e., T-score <-2.5), and some of them have no decreased BMD at all. Some medical conditions (spondyloarthropathies, chronic kidney disease and mineral bone disorder, diabetes, obesity) or drugs (glucocorticoids, aromatase inhibitors) are more prone to cause fractures with subnormal BMD. In the situation of fragility fractures with subnormal or normal BMD, clinicians face a difficulty as almost all the pharmacologic treatments have proved their efficacy in patients with low BMD. However, some data are available in post hoc analyses in patients with T score >-2. Overall, in patients with a previous fragility fracture (especially vertebra or hip), treatments appear to be effective. Thus, the authors recommend treating some patients with a major fragility fracture even if areal BMD T score is above -2.5.

13 Review Improving the Management of COPD in Women. 2017

Jenkins, Christine R / Chapman, Kenneth R / Donohue, James F / Roche, Nicolas / Tsiligianni, Ioanna / Han, MeiLan K. ·The George Institute for Global Health, Sydney, NSW, Australia. Electronic address: christine.jenkins@sydney.edu.au. · Asthma and Airway Centre, University Health Network, Toronto Western Hospital, Toronto, ON, Canada. · Department of Medicine, University of North Carolina School of Medicine, Chapel Hill, NC. · Respiratory and Intensive Care Medicine, Cochin Hospital Group, University Paris Descartes, Paris, France. · University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. · Division of Pulmonary and Critical Care, University of Michigan, Ann Arbor, MI. ·Chest · Pubmed #27816445.

ABSTRACT: COPD is a highly debilitating disease that represents a substantial and growing health burden in women. There is increasing evidence for sex-related differences in COPD risk, progression, and outcomes. However, the disease receives scant attention as a women's health issue. Thus, a multifaceted approach is required to address COPD in women, including greater awareness, minimization of risk, and further elucidation of the sex-specific factors (biological and cultural) that affect risk, disease progression, and treatment success. This article reviews the current literature on the topic and provides suggestions for achieving better outcomes for the millions of women with COPD worldwide.

14 Review Osteoporosis: Is milk a kindness or a curse? 2017

Fardellone, Patrice / Séjourné, Alice / Blain, Hubert / Cortet, Bernard / Thomas, Thierry / Anonymous3600884. ·Service de Rhumatologie, Hôpital Nord, Place Victor-Pauchet, 80054 Amiens Cedex 1, France; Inserm 1088, 80054 Amiens Cedex 1, France. Electronic address: fardellone.patrice@chu-amiens.fr. · Service de Rhumatologie, Hôpital Nord, Place Victor-Pauchet, 80054 Amiens Cedex 1, France; Inserm 1088, 80054 Amiens Cedex 1, France. · Centre de Prévention et de Traitement des Maladies du Vieillissement Antonin-Balmes, Centre Régional Equilibre et Prévention de la Chute du Languedoc-Roussillon, Centre Hospitalier Régional Universitaire de Montpellier, 39, avenue Charles-Flahault, 34295 Montpellier Cedex 5, France. · EA 4490, Service de Rhumatologie, Hôpital Roger-Salengro, CHU Lille, 59037 Lille Cedex, France. · Unité de Rhumatologie, CHU de Saint-Étienne, Hôpital de Bellevue, 42055 Saint-Étienne Cedex 2, France. · Centre d'Évaluation des Maladies Osseuses, Hôpital Cochin, 27, rue du Faubourg Saint Jacques, 75014 Paris, France. ·Joint Bone Spine · Pubmed #27726930.

ABSTRACT: Cow's milk is often severely criticized as a cause of multiple health problems, including an increased risk of fractures. A close look at the scientific literature shows a striking contradiction. On the one hand, experimental studies of surrogate markers (e.g., bone turnover markers and bone mineral density [BMD]) usually indicate benefits from drinking cow's milk. On the other, the findings from epidemiological studies are conflicting and disconcerting. In all age groups, including children and postmenopausal women, consuming cow's milk, powdered milk supplements, or whey protein is associated with a slower bone turnover and unchanged or higher BMD values. These benefits are particularly marked in populations where calcium deficiency is prevalent, for instance in Asian countries. No interventional studies have addressed the fracture risk potentially associated with drinking cow's milk. The only available data come from epidemiological observational studies, whose results are conflicting, with a lower fracture risk in some cases and no difference or a higher risk in others. Several hypotheses have been offered to explain these findings, such as a deleterious effect of D-galactose, lactose intolerance, and acid overload. Epidemiological studies face many obstacles when seeking to detect effects of a single food, particularly the multiplicity of interactions among foods. Furthermore, reliable dietary intake data must be collected over prolonged periods, often long before the occurrence of a fracture, and defective recall may therefore introduce a major yet often unrecognized bias, particularly in populations where calcium deficiency is uncommon. To date, there is no conclusive evidence that we should modify our currently high level of consumption of cow's milk.

15 Review Current role for bone absorptiometry. 2017

Roux, Christian / Briot, Karine. ·Inserm U1153, Université Paris Descartes, 75006 Paris, France; Département de Rhumatologie, Hôpital Cochin, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France. ·Joint Bone Spine · Pubmed #27282091.

ABSTRACT: Bone mineral density (BMD) measurement using dual-energy X-ray absorptiometry (DXA) is a key contributor to the management of bone fragility syndromes, most notably postmenopausal osteoporosis. Experimental studies of bone biomechanics have established that an accurate marker for mechanical strength is areal BMD (aBMD, g/cm

16 Review Unmet needs and current and future approaches for osteoporotic patients at high risk of hip fracture. 2016

Ferrari, Serge / Reginster, Jean-Yves / Brandi, Maria Luisa / Kanis, John A / Devogelaer, Jean-Pierre / Kaufman, Jean-Marc / Féron, Jean-Marc / Kurth, Andreas / Rizzoli, René. ·Service of Bone Diseases, Department of Internal Medicine Specialties, Geneva University Hospitals and Faculty of Medicine, 1211, Geneva 14, Switzerland. · Bone and Cartilage Metabolism Unit, University of Liège, Liège, Belgium. · Section of Endocrinology, Unit of Bone and Mineral Metabolism, Department of Surgery and Translational Medicine, Florence, Italy. · Institute for Health and Aging, Catholic University of Australia, Melbourne, Australia. · University of Sheffield Medical School, Sheffield, UK. · Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium. · Department of Endocrinology and Unit for Osteoporosis and Metabolic Bone Diseases, Ghent University Hospital, Ghent, Belgium. · Orthopaedic and Trauma Department, Saint Antoine Hospital, UPMC-Sorbonne Universities, Paris, France. · Department of Orthopaedic Surgery, Themistocles Gluck Hospital, Dusseldorf, Germany. · Service of Bone Diseases, Department of Internal Medicine Specialties, Geneva University Hospitals and Faculty of Medicine, 1211, Geneva 14, Switzerland. rene.rizzoli@unige.ch. ·Arch Osteoporos · Pubmed #27800591.

ABSTRACT: This review provides a critical analysis of currently available approaches to increase bone mass, structure and strength through drug therapy and of possible direct intra-osseous interventions for the management of patients at imminent risk of hip fracture. PURPOSE: Osteoporotic hip fractures represent a particularly high burden in morbidity-, mortality- and health care-related costs. There are challenges and unmet needs in the early prevention of hip fractures, opening the perspective of new developments for the management of osteoporotic patients at imminent and/or at very high risk of hip fracture. Amongst them, preventive surgical intervention needs to be considered. METHODS: A European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO)/International Osteoporosis Foundation (IOF) working group reviewed the presently available intervention modalities including preventive surgical options for hip fragility. This paper represents a summary of the discussions. RESULTS: Prevention of hip fracture is currently based on regular physical activity; prevention of falls; correction of nutritional deficiencies, including vitamin D repletion; and pharmacological intervention. However, efficacy of these various measures to reduce hip fractures is at most 50% and may need months or years before becoming effective. To face the challenges of early prevention of hip fractures for osteoporotic patients at imminent and/or at very high risk of hip fracture, preventive surgical intervention needs further investigation. CONCLUSION: Preventive surgical intervention needs to be appraised for osteoporotic patients at imminent and/or at very high risk of hip fracture.

17 Review The use of biomarkers in clinical osteoporosis. 2016

Cabral, Hebert Wilson Santos / Andolphi, Bruna Ferreira Galone / Ferreira, Brunna Vila Coutinho / Alves, Danielle Cristina Filgueira / Morelato, Renato Lírio / Chambo, Antônio / Borges, Lizânia Spinassé. ·Post-Doctoral degree in Neuroscience - Adjunct Professor of Medicine and Permanent Professor for the Masters Program in Public Policies and Local Development at Escola Superior de Ciências da Santa Casa de Misericórdia de Vitória (Emescam), Vitória, ES, Brazil. · MD at Emescam, Vitória, ES, Brazil. · PhD in Physiological Sciences - Head of the Geriatric Service and Adjunct Professor at Emescam, Vitória, ES, Brazil. · PhD in Medicine - Full Professor of Gynecology and Obstetrics, Emescam, Vitória, ES, Brazil. · PhD, degree in Sciences. Post-Doctoral research at Université Paris Sud 11, Paris, France. ·Rev Assoc Med Bras (1992) · Pubmed #27437684.

ABSTRACT: Osteoporosis is a disease of ascending character in the world population; in this context, bone biomarkers are being increasingly studied in order to aid in the diagnosis and monitoring of these patients. The main objective of this study was a literature review of articles whose main theme was the use of biomarkers for bone formation and degradation, and to evaluate their possible applicability in clinical practice. Literature review was performed through articles indexed and published in the last five years in the PubMed database. The findings of this study showed that most of the previously selected articles were published in the last two years, and the most cited markers were bone resorption, C-terminal collagen telopeptide (CTX), showing the highest correlation with the dynamics of bone, and the biomarker of bone formation, bone-specific alkaline phosphatase (BAP), which is increased in the event of fracture or may suggest another bone disease. There was an increase in published articles, associating different bone biomarkers and their clinical applicability, especially for treatment control. Our findings suggest that in recent years there has been significant increase in publications evaluating the use of bone turnover biomarkers for bone formation and resorption and their possible clinical applicability, especially in the monitoring of treatment. Still, we believe that further studies need to be conducted to confirm these findings, given the advantages that bone biomarkers can deliver in the clinical management of the disease.

18 Review Sclerostin and Bone Aging: A Mini-Review. 2016

Hay, Eric / Bouaziz, Wafa / Funck-Brentano, Thomas / Cohen-Solal, Martine. ·Department of Rheumatology, Inserm U1132 Research Unit, Hôpital Lariboisière, University Paris-Diderot, Paris, France. ·Gerontology · Pubmed #27177738.

ABSTRACT: Sclerostin, mainly produced by osteocytes, is now considered a major regulator of bone formation. Identified from patients with a low bone mass, sclerostin inhibits the Wnt pathway by binding to LRP5/6 and subsequently increases bone formation. Sclerostin may also play a role in the mediation of systemic and local factors such as calcitriol, PTH, glucocorticoids and tumor necrosis factor-alpha. Circulating sclerostin levels increase with age and with the decline of kidney function. However, they are surprisingly higher in patients with a high bone mineral density, suggesting that sclerostin may be a relevant marker of the pool of mature osteocytes. The anti-anabolic properties lead to the development of anti-sclerostin biotherapies that are under current evaluation. The results of these clinical trials will open new promising opportunities for the treatment of osteoporosis and bone fragility fractures.

19 Review Comorbidities in rheumatoid arthritis. 2016

Dougados, Maxime. ·Paris Descartes University, Department of Rheumatology - Hôpital Cochin. Assistance Publique - Hôpitaux de Paris, EULAR center of excellence, INSERM (U1153): Clinical epidemiology and biostatistics, PRES Sorbonne Paris-Cité, Paris, France. ·Curr Opin Rheumatol · Pubmed #27027814.

ABSTRACT: PURPOSE OF REVIEW: The aim of this study was to give an overview of recently published articles covering comorbidities in rheumatoid arthritis with a specific focus on their implications in daily practice and clinical research studies. RECENT FINDINGS: Recent studies have confirmed the higher incidence/prevalence of some comorbidities in rheumatoid arthritis such as atherosclerosis-related cardiovascular diseases, some cancers, infections and osteoporosis. Apart from the interest in the underlying pathophysiological pathway, such studies have pointed out the impact of comorbidities on the course of the disease and also on the efficacy and tolerability of frequently used antirheumatic drugs. Such findings have prompted the rheumatology community to propose a standardized way to collect and to prevent these comorbidities. SUMMARY: Several comorbidities are frequently observed in rheumatoid arthritis because of the persistent activity of the disease and/or because of the administered antirheumatic therapies. Programs to adequately collect these comorbidities and/or prevent them are resulting in a better outcome for rheumatoid arthritis patients.

20 Review [Epidemiology of vitamin-D deficiency]. 2016

Souberbielle, Jean-Claude. ·Service d'explorations fonctionnelles, Hôpital Necker-Enfants malades, AP-HP, Paris, France. ·Geriatr Psychol Neuropsychiatr Vieil · Pubmed #27005332.

ABSTRACT: The 25-hydroxyvitamin D (25OHD) serum concentration is the consensual marker of vitamin D status. In the general population, the Institute of Medicine considers that a 25OHD level >20 ng/mL is sufficient for bone health in most subjects. In osteoporosis patients, in those who have a pathology or who receive drugs that may increase the risk of osteoporosis, as well as in patients with chronic kidney disease, many experts think that an optimal vitamin D status is better defined by a 25OHD concentration >30 ng/mL. In the French general population, 43-50% of subjects have a 25OHD level <20 ng/mL and approximately 80% have a 25OHD <30 ng/mL. In chronic diseased patients, as well as in some categories of the general population such as elderly people, the percentage of subjects with a 25OHD level below 20 ng/mL is frequently well above 50%. Epidemiologic studies allow us to identify risk factors for vitamin D deficiency such as ageing, overweight, dark skin pigmentation, wearing covering clothes, or having a low level of outdoor activity. This will help to target vitamin D supplementation to "at-risk" subjects. However, discussions on means to improve the vitamin D status of the overall population such as allowing higher levels of food fortification, are needed.

21 Review Points to consider for reporting, screening for and preventing selected comorbidities in chronic inflammatory rheumatic diseases in daily practice: a EULAR initiative. 2016

Baillet, Athan / Gossec, Laure / Carmona, Loreto / Wit, Maarten de / van Eijk-Hustings, Yvonne / Bertheussen, Heidi / Alison, Kent / Toft, Mette / Kouloumas, Marios / Ferreira, Ricardo J O / Oliver, Susan / Rubbert-Roth, Andrea / van Assen, Sander / Dixon, William G / Finckh, Axel / Zink, Angela / Kremer, Joel / Kvien, Tore K / Nurmohamed, Michael / van der Heijde, Desirée / Dougados, Maxime. ·Department of Rheumatology, Université Joseph Fourier, GREPI-CNRS, Grenoble Hospital, France. · Department of Rheumatology, Sorbonne Universités, UPMC Univ Paris 06, Institut Pierre Louis d'Epidémiologie et de Santé Publique, GRC-UPMC 08 (EEMOIS); AP-HP, Pitié Salpêtrière Hospital, Paris, France. · Instituto de Salud Musculoesquelética, Madrid, Spain. · EULAR Standing Committee of People with Arthritis/Rheumatism in Europe (PARE), Zurich, Switzerland. · Integrated Care, Maastricht University Medical Centre, Maastricht, The Netherlands. · Salisbury NHS Foundation Trust Hospital, Salisbury, UK. · Cyprus League Against Rheumatism, Cyprus, Nikosia, Cyprus. · Department of Rheumatology, Centro Hospitalar e Universitário de Coimbra; Health Sciences Research Unit: Nursing (UICiSA:E), Coimbra, Portugal. · Independent Nurse Consultant, North Devon, UK. · Department of Internal Medicine, University of Cologne, Cologne, Germany. · Department of Internal Medicine, Division of Infectious Diseases, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands. · Arthritis Research UK Centre for Epidemiology, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK. · Division of Rheumatology, Geneva University Hospital, Geneva, Switzerland. · Epidemiology Unit, German Rheumatism Research Centre, and Rheumatology, Charité, University Medicine, Berlin, Germany. · Albany Medical College and The Center for Rheumatology, Albany, USA. · Department of Rheumatology, Diakonhjemmet Hospital, Oslo, Norway. · Amsterdam Rheumatology immunology Center | VUmc and Reade, The Netherlands. · Department of Rheumatology, Leiden University Medical Center, The Netherlands. · Department of Rheumatology, Paris Descartes University-Hôpital Cochin. Assistance Publique-Hôpitaux de Paris. INSERM (U1153): Clinical epidemiology and biostatistics, PRES Sorbonne Paris-Cité, Paris, France. ·Ann Rheum Dis · Pubmed #26984008.

ABSTRACT: In chronic inflammatory rheumatic diseases, comorbidities such as cardiovascular diseases and infections are suboptimally prevented, screened for and managed. The objective of this European League Against Rheumatism (EULAR) initiative was to propose points to consider to collect comorbidities in patients with chronic inflammatory rheumatic diseases. We also aimed to develop a pragmatic reporting form to foster the implementation of the points to consider. In accordance with the EULAR Standardised Operating Procedures, the process comprised (1) a systematic literature review of existing recommendations on reporting, screening for or preventing six selected comorbidities: ischaemic cardiovascular diseases, malignancies, infections, gastrointestinal diseases, osteoporosis and depression and (2) a consensus process involving 21 experts (ie, rheumatologists, patients, health professionals). Recommendations on how to treat the comorbidities were not included in the document as they vary across countries. The literature review retrieved 42 articles, most of which were recommendations for reporting or screening for comorbidities in the general population. The consensus process led to three overarching principles and 15 points to consider, related to the six comorbidities, with three sections: (1) reporting (ie, occurrence of the comorbidity and current treatments); (2) screening for disease (eg, mammography) or for risk factors (eg, smoking) and (3) prevention (eg, vaccination). A reporting form (93 questions) corresponding to a practical application of the points to consider was developed. Using an evidence-based approach followed by expert consensus, this EULAR initiative aims to improve the reporting and prevention of comorbidities in chronic inflammatory rheumatic diseases. Next steps include dissemination and implementation.

22 Review Fracture repair: general aspects and influence of osteoporosis and anti-osteoporosis treatment. 2016

Féron, Jean-Marc / Mauprivez, Raphaël. ·Professor of Orthopaedic Surgery, Chair of the Orthopaedic and Trauma Department, Saint Antoine Hospital. UPMC-Sorbonne Universities, Paris, France. Electronic address: jean-marc.feron@aphp.fr. · Senior lecturer, Orthopaedic and Trauma Department, Saint Antoine Hospital. UPMC-Sorbonne Universities, Paris, France. ·Injury · Pubmed #26768282.

ABSTRACT: Bone differs from other tissues in its capacity to self-repair after a fracture. The low bone mass and structural deterioration of bone associated with osteoporosis increases the risk of fragility fracture compared with healthy individuals. The intention of this article is to review the complex process of fracture repair and essential requirements for a successful fracture healing response summarized as the "diamond concept" in terms of aging and osteoporosis. The current preclinical and clinical evidence for a beneficial or harmful influence of anti-osteoporosis medications such as bisphosphonates, parathyroid hormone (PTH), strontium ranelate and antibodies of Wnt-inhibiting signaling proteins on bone healing is presented and discussed. Literature suggests that there are no detrimental consequences of such therapeutics on fracture repair processes. Following a fragility fracture, it seems that early start of preventive anti-osteoporotic treatment right after surgery does not delay the union of the fracture, except perhaps in the case of very rigidly fixed fracture requiring direct bone healing. There is some promising experimental and clinical evidence for possible enhancement of the bone repair process via administration of systemic agents. Further well designed studies in humans are necessary to accumulate more evidence on the positive effects and to translate this knowledge into valid therapeutic applications.

23 Review Balancing benefits and risks of glucocorticoids in rheumatic diseases and other inflammatory joint disorders: new insights from emerging data. An expert consensus paper from the European Society for Clinical and Economic Aspects of Osteoporosis and Osteoarthritis (ESCEO). 2016

Cooper, Cyrus / Bardin, Thomas / Brandi, Maria-Luisa / Cacoub, Patrice / Caminis, John / Civitelli, Roberto / Cutolo, Maurizio / Dere, Willard / Devogelaer, Jean-Pierre / Diez-Perez, Adolfo / Einhorn, Thomas A / Emonts, Patrick / Ethgen, Olivier / Kanis, John A / Kaufman, Jean-Marc / Kvien, Tore K / Lems, Willem F / McCloskey, Eugene / Miossec, Pierre / Reiter, Susanne / Ringe, Johann / Rizzoli, René / Saag, Kenneth / Reginster, Jean-Yves. ·MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK. cc@mrc.soton.ac.uk. · NIHR Musculoskeletal Biomedical Research Unit, University of Oxford, Oxford, UK. cc@mrc.soton.ac.uk. · Department of Rhumatologie, Hôpital Lariboisière Assistance Publique Hôpitaux de Paris, University Paris VII, Paris, France. · Department of Internal Medicine, University of Florence, Florence, Italy. · Department Hospitalo-Universitaire I2B, INSERM, UMR S 959, CNRS 7211, UPMC University of Paris 06, Paris, France. · Group Hospitalier Pitié-Salpêtrière, Department of Internal Medicine, Paris, France. · UCB Biosciences, 8010 Arco Corporate Drive, Raleigh, NC, USA. · Division of Bone and Mineral Diseases, Washington University, St. Louis, MO, USA. · Research Laboratories and Clinical Academic Division of Rheumatology, University Medical School of Genoa, Genoa, Italy. · Internal Medicine, University of Utah, Salt Lake City, UT, USA. · Rheumatology Department, Saint-Luc University Hospital, Louvain University in Brussels, Brussels, Belgium. · Servicio de Medicina Interna y Enfermedades Infecciosas, Hospital del Mar-IMIM and RETICEF, Barcelona, Spain. · Department of Orthopaedic Surgery, Boston University Medical Center, Boston, MA, USA. · Bone and Cartilage Metabolism Unit, Department of Public Health Sciences, University of Liege, Liège, Belgium. · Department of Public Health, Epidemiology and Health Economics, University of Liège, Liège, Belgium. · Centre for Metabolic Bone Diseases, Centre for Integrated Research in Musculoskeletal Ageing, University of Sheffield, Sheffield, UK. · Department of Endocrinology, Ghent University Hospital, Ghent, Belgium. · Department of Rheumatology, Diakonhjemmet Hospital, Oslo, Norway. · Department of Rheumatology, VU University Medical Hospital, Amsterdam, The Netherlands. · Immunogenomics and Inflammation Research Unit, Department of Immunology and Rheumatology, University of Lyon 1, Lyon, France. · , Bonn, Germany. · West German Osteoporosis Center (WOC), University of Cologne, Leverkusen, Germany. · Service of Bone Diseases, Faculty of Medicine, Geneva University Hospitals, Geneva, Switzerland. · Division of Clinical Immunology and Rheumatology, University of Alabama, Birmingham, AL, USA. · Department of Public Health, Epidemiology and Health Economics, University of Liege, Liège, Belgium. ·Aging Clin Exp Res · Pubmed #26746234.

ABSTRACT: PURPOSE: This consensus review article considers the question of whether glucocorticoid (GC) therapy is still relevant in the treatment of rheumatic diseases, with a particular focus on rheumatoid arthritis (RA), and whether its side effects can be adequately managed. Recent basic and clinical research on the molecular, cellular and clinical effects of GCs have considerably advanced our knowledge in this field. An overview of the subject seems appropriate. METHODS: This review is the result of a multidisciplinary expert working group, organised by European Society for Clinical and Economic Aspects of Osteoporosis and Osteoarthritis. The recent literature was surveyed and the salient evidence synthetized. RESULTS: The pathophysiological basis of RA (and other inflammatory rheumatic diseases) now strongly implicates the adaptive immune system in addition to innate mechanisms. The molecular effect of GCs and differential GC sensitivity is better understood, although exploiting this knowledge is still in its infancy. The newer treatment strategies of early and aggressive control of RA have gr eatly improved clinical outcomes, but improvements are still possible. Newer targeted anti-inflammatory drugs have made an important impact, yet they too are associated with numerous side effects. DISCUSSION: Short durations of moderate doses of GCs are generally well tolerated and have a positive benefit/risk ratio. Patients should be assessed for fracture risk and bone preserving agents and be prescribed calcium and vitamin D supplementation. CONCLUSIONS: Within a strategy of a disease modifying approach to inflammatory disease, combination therapy including a GC is effective approach.

24 Review Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay. 2015

Capo-Chichi, José-Mario / Mehawej, Cybel / Delague, Valerie / Caillaud, Catherine / Khneisser, Issam / Hamdan, Fadi F / Michaud, Jacques L / Kibar, Zoha / Mégarbané, André. ·CHU Sainte-Justine Research Center, Montreal H3T 1C5, Canada. Electronic address: jmcapochichi@yahoo.fr. · Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. Electronic address: cybel.mehawej@usj.edu.lb. · Inserm, UMR_S 910, 13385 Marseille, France; Aix Marseille Université, GMGF, 13385 Marseille, France. Electronic address: valerie.delague@univ-amu.fr. · Service de Biochimie Médicale, Hôpital Necker Enfants Malades, Paris 75015, France. Electronic address: catherine.caillaud@inserm.fr. · Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. Electronic address: issam.khneisser@usj.edu.lb. · CHU Sainte-Justine Research Center, Montreal H3T 1C5, Canada. Electronic address: fadi.hamdan@recherche-ste-justine.qc.ca. · CHU Sainte-Justine Research Center, Montreal H3T 1C5, Canada; Department of Pediatrics and Department of Neurosciences, Université de Montreal, Montreal, Canada. Electronic address: Jacques.Michaud@recherche-ste-justine.qc.ca. · CHU Sainte-Justine Research Center, Montreal H3T 1C5, Canada. Electronic address: zoha.kibar@recherche-ste-justine.qc.ca. · Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon; Institut Jérôme Lejeune, Paris, France. Electronic address: andre.megarbane@usj.edu.lb. ·Eur J Med Genet · Pubmed #26578240.

ABSTRACT: BACKGROUND: Recently, biallelic mutations in the Neuroblastoma Amplified Sequence NBAS gene have been identified in ten patients that present recurrent acute liver failure (RALF) in early infancy. In addition to severe liver dysfunction, some of these individuals also suffered from other comorbidities including cardiomyopathy, neurologic phenotypes and gastrointestinal immune defects. Here we report on a consanguineous Lebanese family with three siblings affected by RALF. Of note, neonatal spontaneous fractures, developmental delay, prominent eyes, generalized hirsutism, gum hypertrophy, and hepato-splenomegaly ​were also present. METHODS: Whole-genome SNP genotyping in all the patients, followed by exome sequencing was performed in one of the affected siblings. RESULTS: A homozygous c.409C > T (p.Arg137Trp) missense mutation in NBAS was identified in all patients. CONCLUSION: Overall, our findings confirm the involvement of NBAS in the pathogenesis of this condition characterized by severe liver dysfunction and help expand its phenotypical spectrum.

25 Review Choosing the tool for osteoporosis risk prediction. 2015

Cormier, Catherine / Koumakis, Eugenie / Souberbielle, Jean-Claude. ·aDepartment of Rheumatology A, Cochin Hospital bPhysiology Department, Necker-Enfants-Malades Hospital, Paris Descartes University, Paris, France. ·Curr Opin Clin Nutr Metab Care · Pubmed #26241819.

ABSTRACT: PURPOSE OF REVIEW: Predicting fracture risk is a major challenge because it allows the prevention of major osteoporotic fracture in high-risk populations. With the aging of the population, this matter will become of even greater importance. In recent years, novel clinical, biochemical, and imaging tools have been developed to improve the assessment of fracture risk. RECENT FINDINGS: The present review summarizes novel clinical strategies, Dual energy X-ray absorptiometry (DXA)-derived tools, imaging techniques, and biochemical markers that have been developed recently to improve fracture risk prediction. SUMMARY: DXA and clinical fracture risk prediction tools are preferential markers of fracture risk. Clinical fracture risk alone might be used if DXA facilities are unavailable. The fracture risk assessment tool may be used in osteoporosis consultation in many countries. Other tools may be used soon after more studies are performed, particularly trabecular bone score, quantitative ultrasound, bone turnover markers. Specific factors for example falls, hip axis length, vertebral fracture assessment could be used in individual patients. This may significantly improve the clinical decision-making.