Bone mineral changes in 43 children with osteogenesis imperfecta treated by pamidronate

2019 ◽  
Author(s):  
Mikhail Kostik ◽  
Rena Idrisova ◽  
Dmitry Buklaev ◽  
Arthur Bergaliev ◽  
Eugenia Isupova ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Bone Mineral ◽  
Mineral Changes

scholarly journals Craniofacial Bone Mineral Density in Mice with Osteogenesis Imperfecta (OI)

2019 ◽  
Vol 33 (S1) ◽  
Author(s):  
Alexandra H McBride ◽  
Summer H Ladd ◽  
Jason M Organ ◽  
Rachel A Menegaz
Keyword(s):  
Bone Mineral Density ◽  
Osteogenesis Imperfecta ◽  
Bone Mineral ◽  
Mineral Density ◽  
Craniofacial Bone

scholarly journals Bone Mineral Changes and Cardiovascular Effects among Female Athletes with Chronic Menstrual Dysfunction

2012 ◽  
Vol 3 (1) ◽  
Author(s):  
Ghazaleh Soleimany ◽  
Haleh Dadgostar ◽  
Sara Lotfian ◽  
Mazyar Moradi-Lakeh ◽  
Elham Dadgostar ◽  
...  
Keyword(s):  
Bone Mineral ◽  
Female Athletes ◽  
Cardiovascular Effects ◽  
Menstrual Dysfunction ◽  
Mineral Changes

Vitamin D and Estrogen Receptor Polymorphisms and Bone Mineral Changes in Postpartum Women

2000 ◽  
Vol 66 (3) ◽  
pp. 184-189 ◽  
Author(s):  
D. Holmberg-Marttila ◽  
H. Sievänen ◽  
T. L. N. Järvinen ◽  
T. A. H. Järvinen
Keyword(s):  
Vitamin D ◽  
Estrogen Receptor ◽  
Bone Mineral ◽  
Postpartum Women ◽  
Mineral Changes

scholarly journals Bone mineral density in developing children with osteogenesis imperfecta

2013 ◽  
Vol 84 (4) ◽  
pp. 431-436 ◽  
Author(s):  
Dieke H J Kok ◽  
Ralph J B Sakkers ◽  
Hans E H Pruijs ◽  
Pieter Joosse ◽  
René M Castelein
Keyword(s):  
Bone Mineral Density ◽  
Osteogenesis Imperfecta ◽  
Bone Mineral ◽  
Mineral Density

scholarly journals Serum Calcitonin and Bone Mineral Content in Patients with Osteogenesis Imperfecta

1979 ◽  
Vol 50 (6) ◽  
pp. 639-643 ◽  
Author(s):  
H. E. Nielsen ◽  
U. Pedersen ◽  
H. Hvid Hansen ◽  
O. Elbrønd
Keyword(s):  
Osteogenesis Imperfecta ◽  
Bone Mineral Content ◽  
Bone Mineral ◽  
Mineral Content ◽  
Serum Calcitonin

High Bone Mineral Density Osteogenesis Imperfecta in a Family with a Novel Pathogenic Variant in COL1A2

2020 ◽  
Vol 93 (4) ◽  
pp. 263-271
Author(s):  
Lara E. Graves ◽  
Christie-Lee Wall ◽  
Julie N. Briody ◽  
Bruce Bennetts ◽  
Karen Wong ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Mass ◽  
Osteogenesis Imperfecta ◽  
Bone Mineral ◽  
Quantitative Computed Tomography ◽  
Diagnostic Process ◽  
Low Bone Mass ◽  
Mineral Density ◽  
Pathogenic Variants ◽  
Minimal Trauma

Osteogenesis imperfecta (OI) is a heterogenous group of heritable bone dysplasias characterized by bone fragility, typically low bone mass, joint laxity, easy bruising, and variable short stature. Classical OI is caused by autosomal dominant pathogenic variants in <i>COL1A1</i> or <i>COL1A2</i> that result in either reduced production of normal type 1 collagen or structurally abnormal collagen molecules. Pathogenic variants in these genes generally result in low bone mass. Here, we report a family that had 2 affected individuals who presented with minimal trauma fractures and were found to have elevated bone mineral density (BMD) and a previously unreported variant in <i>COL1A2</i> c.3356C&#x3e;T p.(Ala1119Val). We report the change in BMD using dual-energy X-ray and peripheral quantitative computed tomography over a 2.3-year period in the proband. This case report highlights the importance of BMD studies and genetic testing in the diagnostic process for brittle bone disorders.

Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta

Blood ◽  
2001 ◽  
Vol 97 (5) ◽  
pp. 1227-1231 ◽  
Author(s):  
Edwin M. Horwitz ◽  
Darwin J. Prockop ◽  
Patricia L. Gordon ◽  
Winston W. K. Koo ◽  
Lorraine A. Fitzpatrick ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Osteogenesis Imperfecta ◽  
Bone Mineral Content ◽  
Bone Mineral ◽  
Growth Rates ◽  
Marrow Transplantation ◽  
Mineral Content ◽  
Type I ◽  
Clinical Responses

Preclinical models have shown that transplantation of marrow mesenchymal cells has the potential to correct inherited disorders of bone, cartilage, and muscle. The report describes clinical responses of the first children to undergo allogeneic bone marrow transplantation (BMT) for severe osteogenesis imperfecta (OI), a genetic disorder characterized by defective type I collagen, osteopenia, bone fragility, severe bony deformities, and growth retardation. Five children with severe OI were enrolled in a study of BMT from human leukocyte antigen (HLA)–compatible sibling donors. Linear growth, bone mineralization, and fracture rate were taken as measures of treatment response. The 3 children with documented donor osteoblast engraftment had a median 7.5-cm increase in body length (range, 6.5-8.0 cm) 6 months after transplantation compared with 1.25 cm (range, 1.0-1.5 cm) for age-matched control patients. These patients gained 21.0 to 65.3 g total body bone mineral content by 3 months after treatment or 45% to 77% of their baseline values. With extended follow-up, the patients' growth rates either slowed or reached a plateau phase. Bone mineral content continued to increase at a rate similar to that for weight-matched healthy children, even as growth rates declined. These results suggest that BMT from HLA-compatible donors may benefit children with severe OI. Further studies are needed to determine the full potential of this strategy.

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