Literature DB >> 24463444

Osteogenesis imperfecta in adults.

Nick J Bishop, Jennifer S Walsh.   

Abstract

A 42-year-old premenopausal woman with osteogenesis imperfecta presents to the metabolic bone clinic. She has a daughter with osteogenesis imperfecta who is seen regularly in a specialist pediatric clinic, but the patient herself hasn't had a clinical consultation in years. She has pain and stiffness in her back and is worried for her future bone health. The patient asks, "Am I going to fall apart?" She had numerous fractures in childhood, including fractures of her femur and wrist; fractured her ankles several times in her late teens; and had occasional fractures in adulthood. Her last fracture was a comminuted fracture of her humerus three years ago, when she stumbled and fell forward onto her hands and knees. The woman is hyperextensible and thinks her ankles feel weak. Her bone mineral density T scores are -2.6 at the lumbar spine and -1.9 at the total hip, and spine imaging shows several vertebral endplate deformities, but overall preservation of vertebral height. What are the available pharmacological and nonpharmacological strategies to preserve her skeletal health and function?

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Year:  2014        PMID: 24463444      PMCID: PMC3904636          DOI: 10.1172/JCI74230

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  8 in total

Review 1.  Recessively inherited forms of osteogenesis imperfecta.

Authors:  Peter H Byers; Shawna M Pyott
Journal:  Annu Rev Genet       Date:  2012       Impact factor: 16.830

2.  Bone mineral density and fracture rate in response to intravenous and oral bisphosphonates in adult osteogenesis imperfecta.

Authors:  Jay R Shapiro; Carol B Thompson; Yimei Wu; Martin Nunes; Carolynn Gillen
Journal:  Calcif Tissue Int       Date:  2010-06-11       Impact factor: 4.333

3.  Teriparatide treatment in adult patients with osteogenesis imperfecta type I.

Authors:  Davide Gatti; Maurizio Rossini; Ombretta Viapiana; Maria Rosaria Povino; Saverio Liuzza; Elena Fracassi; Luca Idolazzi; Silvano Adami
Journal:  Calcif Tissue Int       Date:  2013-08-02       Impact factor: 4.333

Review 4.  Osteogenesis imperfecta:epidemiology and pathophysiology.

Authors:  Elizabeth Martin; Jay R Shapiro
Journal:  Curr Osteoporos Rep       Date:  2007-09       Impact factor: 5.096

Review 5.  Bisphosphonate therapy for osteogenesis imperfecta.

Authors:  Carrie A Phillipi; Tracey Remmington; Robert D Steiner
Journal:  Cochrane Database Syst Rev       Date:  2008-10-08

6.  Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial.

Authors:  Nick Bishop; Silvano Adami; S Faisal Ahmed; Jordi Antón; Paul Arundel; Christine P Burren; Jean-Pierre Devogelaer; Thomas Hangartner; Eva Hosszú; Joseph M Lane; Roman Lorenc; Outi Mäkitie; Craig F Munns; Ana Paredes; Helene Pavlov; Horacio Plotkin; Cathleen L Raggio; Maria Loreto Reyes; Eckhard Schoenau; Oliver Semler; David O Sillence; Robert D Steiner
Journal:  Lancet       Date:  2013-08-06       Impact factor: 79.321

7.  The paradox of prevention--bilateral atypical subtrochanteric fractures due to bisphosphonates in osteogenesis imperfecta.

Authors:  Konstantinos N Manolopoulos; Andrew West; Neil Gittoes
Journal:  J Clin Endocrinol Metab       Date:  2013-02-05       Impact factor: 5.958

8.  Evaluation of teriparatide treatment in adults with osteogenesis imperfecta.

Authors:  Eric S Orwoll; Jay Shapiro; Sandra Veith; Ying Wang; Jodi Lapidus; Chaim Vanek; Jan L Reeder; Tony M Keaveny; David C Lee; Mary A Mullins; Sandesh C S Nagamani; Brendan Lee
Journal:  J Clin Invest       Date:  2014-01-27       Impact factor: 14.808

  8 in total
  5 in total

Review 1.  When Low Bone Mineral Density and Fractures Is Not Osteoporosis.

Authors:  Smita Jha; Marquis Chapman; Kelly Roszko
Journal:  Curr Osteoporos Rep       Date:  2019-10       Impact factor: 5.096

2.  Radiation exposure in adult and pediatric patients with osteogenesis imperfecta.

Authors:  Jordan D Perchik; Ryan P Murphy; Derek M Kelly; Jeffrey R Sawyer
Journal:  J Orthop       Date:  2019-03-22

Review 3.  Challenges of total knee arthroplasty in osteogenesis imperfecta: case report and literature review.

Authors:  Pavel Sponer; Martin Korbel; Tomas Kucera
Journal:  J Int Med Res       Date:  2022-05       Impact factor: 1.573

4.  Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure.

Authors:  J D Hald; L Folkestad; T Harsløf; A M Lund; M Duno; J B Jensen; S Neghabat; K Brixen; B Langdahl
Journal:  Osteoporos Int       Date:  2016-06-02       Impact factor: 4.507

5.  Temporomandibular disorders and psychosocial status in osteogenesis imperfecta - a cross-sectional study.

Authors:  K H Bendixen; H Gjørup; L Baad-Hansen; J Dahl Hald; T Harsløf; M H Schmidt; B L Langdahl; D Haubek
Journal:  BMC Oral Health       Date:  2018-03-07       Impact factor: 2.757

  5 in total

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