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      Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research

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          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          ABSTRACT

          Osteogenesis imperfecta (OI) is a monogenic bone fragility disorder that usually is caused by mutations in one of the two genes coding for collagen type I alpha chains, COL1A1 or COL1A2. Mutations in at least 18 other genes can also lead to an OI phenotype. As genetic testing is more widely used, mutations in these genes are also more frequently discovered in individuals who have a propensity for fractures, but who do not have other typical clinical characteristics of OI. Intravenous bisphosphonate therapy is still the most widely used drug treatment approach. Preclinical studies in OI mouse models have shown encouraging effects when the antiresorptive effect of a bisphosphonate was combined with bone anabolic therapy using a sclerostin antibody. Other novel experimental treatment approaches include inhibition of transforming growth factor beta signaling with a neutralizing antibody and the inhibition of myostatin and activin A by a soluble activin receptor 2B. © 2019 The Authors. JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research

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          Atypical subtrochanteric and diaphyseal femoral fractures: second report of a task force of the American Society for Bone and Mineral Research.

          Elizabeth Shane, David Burr, Bo Abrahamsen … (2014)
          Bisphosphonates (BPs) and denosumab reduce the risk of spine and nonspine fractures. Atypical femur fractures (AFFs) located in the subtrochanteric region and diaphysis of the femur have been reported in patients taking BPs and in patients on denosumab, but they also occur in patients with no exposure to these drugs. In this report, we review studies on the epidemiology, pathogenesis, and medical management of AFFs, published since 2010. This newer evidence suggests that AFFs are stress or insufficiency fractures. The original case definition was revised to highlight radiographic features that distinguish AFFs from ordinary osteoporotic femoral diaphyseal fractures and to provide guidance on the importance of their transverse orientation. The requirement that fractures be noncomminuted was relaxed to include minimal comminution. The periosteal stress reaction at the fracture site was changed from a minor to a major feature. The association with specific diseases and drug exposures was removed from the minor features, because it was considered that these associations should be sought rather than be included in the case definition. Studies with radiographic review consistently report significant associations between AFFs and BP use, although the strength of associations and magnitude of effect vary. Although the relative risk of patients with AFFs taking BPs is high, the absolute risk of AFFs in patients on BPs is low, ranging from 3.2 to 50 cases per 100,000 person-years. However, long-term use may be associated with higher risk (∼100 per 100,000 person-years). BPs localize in areas that are developing stress fractures; suppression of targeted intracortical remodeling at the site of an AFF could impair the processes by which stress fractures normally heal. When BPs are stopped, risk of an AFF may decline. Lower limb geometry and Asian ethnicity may contribute to the risk of AFFs. There is inconsistent evidence that teriparatide may advance healing of AFFs.
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            Osteoporosis treatment: recent developments and ongoing challenges.

            Sundeep Khosla, Lorenz Hofbauer (2017)
            Osteoporosis is an enormous and growing public health problem. Once considered an inevitable consequence of ageing, it is now eminently preventable and treatable. Ironically, despite tremendous therapeutic advances, there is an increasing treatment gap for patients at high fracture risk. In this Series paper, we trace the evolution of drug therapy for osteoporosis, which began in the 1940s with the demonstration by Fuller Albright that treatment with oestrogen could reverse the negative calcium balance that developed in women after menopause or oophorectomy. We note a watershed in osteoporosis drug discovery around the year 2000, when the approach to developing novel therapeutics shifted from one driven by discoveries in animal studies and clinical observations (eg, oestrogen, calcitonin, and teriparatide) or opportunistic repurposing of existing compounds (eg, bisphosphonates) to one driven by advances in fundamental bone biology (eg, denosumab) coupled with clues from patients with rare bone diseases (eg, romosozumab, odanacatib). Despite these remarkable advances, concerns about rare side-effects of anti-resorptive drugs, particularly bisphosphonates, and the absence of clear evidence in support of their long-term efficacy is leading many patients who could benefit from drug therapy to not take these drugs. As such, there remains an important clinical need to develop ways to enhance patient acceptance and compliance with these effective drugs, and to continue to develop new drugs that do not cause these side-effects and have prolonged anabolic effects on bone. Such changes could lead to a true reversal of this potentially devastating disease of ageing.
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              Obstructive sleep apnoea syndrome.

              Patrick Levy, Malcolm Kohler, Walter McNicholas … (2015)
              Obstructive sleep apnoea syndrome (OSAS) is a common clinical condition in which the throat narrows or collapses repeatedly during sleep, causing obstructive sleep apnoea events. The syndrome is particularly prevalent in middle-aged and older adults. The mechanism by which the upper airway collapses is not fully understood but is multifactorial and includes obesity, craniofacial changes, alteration in upper airway muscle function, pharyngeal neuropathy and fluid shift towards the neck. The direct consequences of the collapse are intermittent hypoxia and hypercapnia, recurrent arousals and increase in respiratory efforts, leading to secondary sympathetic activation, oxidative stress and systemic inflammation. Excessive daytime sleepiness is a burden for the majority of patients. OSAS is also associated with cardiovascular co-morbidities, including hypertension, arrhythmias, stroke, coronary heart disease, atherosclerosis and overall increased cardiovascular mortality, as well as metabolic dysfunction. Whether treating sleep apnoea can fully reverse its chronic consequences remains to be established in adequately designed studies. Continuous positive airway pressure (CPAP) is the primary treatment modality in patients with severe OSAS, whereas oral appliances are also widely used in mild to moderate forms. Finally, combining different treatment modalities such as CPAP and weight control is beneficial, but need to be evaluated in randomized controlled trials. For an illustrated summary of this Primer, visit: http://go.nature.com/Lwc6te.
              Article 0 comments Cited 278 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Frank Rauch: frauch@shriners.mcgill.ca
                Journal
                Journal ID (nlm-ta): JBMR Plus
                Journal ID (iso-abbrev): JBMR Plus
                Journal ID (doi): 10.1002/(ISSN)2473-4039
                Journal ID (publisher-id): JBM4
                Title: JBMR Plus
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2473-4039
                Publication date (Electronic): 20 February 2019
                Publication date Collection: August 2019
                Volume: 3
                Issue: 8 , Special Issue on Rare Bone Diseases ( doiID: 10.1002/jbm4.v3.8 )
                Electronic Location Identifier: e10174
                Affiliations
                [ 1 ] Shriners Hospital for Children Montreal Quebec Canada
                Author notes
                [*] [* ] Address correspondence to: Frank Rauch, Shriners Hospital for Children, 1003 Decarie, Montreal, Quebec, Canada H4A 0A9. E‐mail: frauch@ 123456shriners.mcgill.ca

                Article
                Publisher ID: JBM410174
                DOI: 10.1002/jbm4.10174
                PMC ID: 6715783
                PubMed ID: 31485550
                SO-VID: c7f5fca0-3459-48a4-bbd2-04f9c46ce2a4
                Copyright © © 2019 The Authors. JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 19 October 2018
                Date revision received : 04 January 2019
                Date accepted : 16 January 2019
                Page count
                Figures: 3, Tables: 1, Pages: 10, Words: 8079
                Funding
                Funded by: Shriners of North America
                Funded by: Fonds de recherche du Québec–Santé
                Funded by: PreciThera Inc
                Categories
                Subject: Special Issue
                Subject: Special Issue
                Custom metadata
                source-schema-version-number 2.0
                component-id jbm410174
                cover-date August 2019
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_NLMPMC version:5.6.8 mode:remove_FC converted:29.08.2019

                Keywords: collagen type i,fractures,muscle,osteoblast,osteogenesis imperfecta,sequencing
                Data availability:
                Keywords: collagen type i, fractures, muscle, osteoblast, osteogenesis imperfecta, sequencing

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