Osteogenesis Imperfecta: A Translational Approach to Brittle Bone DiseaseJavaid Kassim, Paul Sponseller Osteogenesis Imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Although several reviews of the field have been published in various journals, there is no other single source for a compendium of current information. Separate chapters discuss each of the several clinical features of OI. Ethical issues related to OI are discussed, as is the importance of nutrition in managing the OI child and the OI adult. The role of physical medicine and rehabilitation for OI patients is also presented, along with the current status of OI medical treatment and the prospects for genetic engineering in the future. The text also provides the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI. - Incorporates chapters and information on the ethical issues related to osteogenesis imperfecta (OI) as will the importance of nutrition in managing the OI child and the OI adult - Offers new insights into the underlying mechanisms of collagen biochemistry as related to OI as well as a presentation of intracellular collagen processing and the expanded role of protein chaperones in OI - Discusses the role of physical medicine and rehabilitation for OI patients and the current status of OI medical treatment as well as prospects for genetic engineering in the future - Provides a unique overview for the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI |
Contents
| 29 | |
CLINICAL AND MOLECULAR GENETICS OF OSTEOGENESIS IMPERFECTA | 97 |
COL1A1 AND COL1A2 MUTATIONS | 113 |
ANIMAL MODELS OF OSTEOGENESIS IMPERFECTA | 195 |
BRITTLE BONE OVERLAP PHENOTYPES TGFBETA MUTATIONS AND BONE | 209 |
CLINICAL ASPECTS OF OSTEOGENESIS IMPERFECTA | 229 |
ORGAN INVOLVEMENT IN OSTEOGENESIS IMPERFECTA | 281 |
Other editions - View all
Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease Javaid Kassim,Paul Sponseller No preview available - 2013 |
Common terms and phrases
3-hydroxylation abnormal activity amino acid associated autosomal Biochem Biol Chem bisphosphonates Bone Miner Res Bruck syndrome C-propeptide cause cells chains chaperone children with OI children with osteogenesis Clin clinical CRTAP cyclophilin decreased defect deformity density diagnosis disease disorder domain effects Ehlers-Danlos syndrome exon extracellular matrix fecta femur fibroblasts Figure folding forms of OI fractures function gene Glorieux FH growth hormone Hum Genet human implant increased intramedullary intravenous LEPRE1 lethal long bones Marini JC mice missense mutation molecular molecules mouse model muscle muta normal OI patients OI type Orthop osteo osteoblast osteogenesis imper osteogenesis imperfecta osteogenesis imperfecta type osteoporosis osteotomy pamidronate patients with OI patients with osteogenesis PEDF Pediatr peptide phenotype procollagen prolyl protein proteoglycans radiographs Rauch F reported result sclera scoliosis sequence Sillence skeletal skin spine spondylolisthesis structure syndrome therapy tion treatment triple helix type I collagen type I procollagen variants vitamin vitamin D