Osteogenesis imperfecta type 4

2020 ◽  
Author(s):  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type

A new start-codon in IFITM5 causes osteogenesis imperfecta type V

2013 ◽  
Author(s):  
Semler Oliver ◽  
Hoyer-Kuhn Heike ◽  
Garbes Lutz ◽  
Netzer Christian ◽  
Schoenau Eckhard
Keyword(s):  
Osteogenesis Imperfecta ◽  
Start Codon ◽  
Osteogenesis Imperfecta Type ◽  
Type V

Osteogenesis imperfecta type V due to a rare mutation c.119C> T in the IFITM5: A case report

2020 ◽  
Author(s):  
Tatiana Grebennikova ◽  
Alina Gavrilova ◽  
Anatoly Tiulpakov ◽  
Natalia Tarbaeva ◽  
Galina Melnichenko ◽  
...  
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Rare Mutation ◽  
Type V

NANOINDENTATION MEASUREMENT ON INTERSTITIAL AND OSTEON OF BONE WITH OSTEOGENESIS IMPERFECTA-TYPE III

2019 ◽  
Vol 42 (4) ◽  
pp. 168-171
Author(s):  
N. A. Azizan ◽  
K. S. Basaruddin ◽  
M. H. Mat Som ◽  
S. F. Khan ◽  
A. R. Sulaiman ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Type Iii ◽  
Nanoindentation Measurement

A novel transgenic murine model with persistently brittle bones simulating osteogenesis imperfecta type I

Bone ◽  
2019 ◽  
Vol 127 ◽  
pp. 646-655 ◽  
Author(s):  
Yi Liu ◽  
Jianhai Wang ◽  
Shuo Liu ◽  
Mingjie Kuang ◽  
Yaqing Jing ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Murine Model ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Transgenic Murine Model ◽  
Brittle Bones ◽  
Osteogenesis Imperfecta Type I

scholarly journals Functional outcomes of an adult with osteogenesis imperfecta after rehabilitation post bilateral Girdlestone procedure

2021 ◽  
Vol 14 (4) ◽  
pp. e239884
Author(s):  
Isabella Supnet ◽  
Joycie Eulah Abiera ◽  
Maria Melanie Liberty Alcausin ◽  
Carlo Emmanuel Sumpaico
Keyword(s):  
Osteogenesis Imperfecta ◽  
Functional Outcomes ◽  
Daily Living ◽  
Short Distance ◽  
Subtrochanteric Fracture ◽  
Osteogenesis Imperfecta Type ◽  
Postoperative Rehabilitation ◽  
Outpatient Settings ◽  
To Receive

This is a case of a 54-year-old woman managed as a case of osteogenesis imperfecta type 1 who sustained a left subtrochanteric fracture and eventual ankylosis of both hips after surgery and immobilisation. These injuries rendered her bedridden, maximally assisted in transitions and transfers, and unable to be positioned past 30° of backrest elevation. The patient underwent a bilateral Girdlestone procedure and had tailored progressive postoperative rehabilitation in both the inpatient and outpatient settings. The patient also continued to receive bisphosphonates during her preoperative and postoperative period, to improve bone stock and aid in relieving pain. Through the efforts of a team of physiatrists, geneticists and orthopaedic surgeons, the patient was able to achieve pain-free sitting, independent transitions and short-distance ambulation, which have allowed her to care for herself more effectively and return to her work and activities of daily living.

scholarly journals Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I

2014 ◽  
Vol 99 (2) ◽  
pp. E356-E362 ◽  
Author(s):  
Louis-Nicolas Veilleux ◽  
Martin Lemay ◽  
Annie Pouliot-Laforte ◽  
Moira S. Cheung ◽  
Francis H. Glorieux ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Muscle Function ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Osteogenesis Imperfecta Type I

Type I Collagen Biosynthesis by Skin Fibroblasts from Patients with Idiopathic Juvenile Osteoporosis

1995 ◽  
Vol 89 (1) ◽  
pp. 69-73 ◽  
Author(s):  
Andrew E. Pocock ◽  
Martin J. O. Francis ◽  
Roger Smith
Keyword(s):  
Osteogenesis Imperfecta ◽  
Type I Collagen ◽  
The Other ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Unrelated Control ◽  
Type Iii ◽  
Collagen Peptides ◽  
Idiopathic Juvenile Osteoporosis ◽  
Osteogenesis Imperfecta Type I

1. Skin fibroblast lines were cultured from nine patients who had the features of idiopathic juvenile osteoporosis, six relatives, five unrelated control subjects and three unrelated patients with osteogenesis imperfecta type I. Some patients with idiopathic juvenile osteoporosis were adults whose previous osteoporosis was in remission. Two patients with idiopathic juvenile osteoporosis were siblings and one patient with idiopathic juvenile osteoporosis had a daughter with severe osteogenesis imperfecta (type III). 2. The ratio of type III to type I collagen, synthesized by fibroblasts, was increased in two of the patients with osteogenesis imperfecta type I and in the daughter with osteogenesis imperfecta type III, but was normal in all the other patients with idiopathic juvenile osteoporosis and the other relatives. 3. Radiolabelled collagen was digested by cyanogen bromide and separated on SDS-PAGE. Unreduced collagen peptides migrated normally, except those from both the two siblings with idiopathic juvenile osteoporosis. In these two lines, abnormal migration suggested the presence of collagen I mutations. 4. The secretion of synthesized collagen by these two idiopathic juvenile osteoporosis lines and two others was reduced to only 43–45% as compared with a line from a 13-year-old control subject, which was defined as 100%. The three osteogenesis imperfecta type I lines secreted 18–37%, the other five idiopathic juvenile osteoporosis lines secreted 57–75%, the relatives (including the daughter with severe osteogenesis imperfecta) secreted 49–115% and the controls secreted 69–102%. 5. We conclude that qualitative abnormalities of type I collagen associated with a reduction in total secreted collagen synthesis may occur in a minority of patients with idiopathic juvenile osteoporosis; these patients could represent a subset of patients with this disorder.

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