Scoliosis and cardiopulmonary outcomes in adults with osteogenesis imperfecta: a pilot study

2019 ◽  
Author(s):  
Sobiah Khan ◽  
Elizabeth Yonko ◽  
Erin Carter ◽  
Robert Sandhaus ◽  
Cathleen Raggio
Keyword(s):  
Pilot Study ◽  
Osteogenesis Imperfecta ◽  
Cardiopulmonary Outcomes

scholarly journals A THIRD GENERATION BISPHOSPHONATE IN MURINE OSTEOGENESIS IMPERFECTA; A PILOT STUDY † 856

1996 ◽  
Vol 39 ◽  
pp. 145-145
Author(s):  
Joseph Gertner ◽  
Kwadwo Boachie-Adjei ◽  
Adele Boskey ◽  
Corey Brayton ◽  
Nancy Camacho ◽  
...  
Keyword(s):  
Pilot Study ◽  
Osteogenesis Imperfecta ◽  
Third Generation

Scoliosis and Cardiopulmonary Outcomes in Osteogenesis Imperfecta Patients

Spine ◽  
2019 ◽  
Vol 44 (15) ◽  
pp. 1057-1063
Author(s):  
Rachel Bronheim ◽  
Sobiah Khan ◽  
Erin Carter ◽  
Robert A. Sandhaus ◽  
Cathleen Raggio
Keyword(s):  
Osteogenesis Imperfecta ◽  
Cardiopulmonary Outcomes

scholarly journals RNA sequencing analysis reveals increased expression of interferon signaling genes and dysregulation of bone metabolism affecting pathways in the whole blood of patients with osteogenesis imperfecta

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Lidiia Zhytnik ◽  
Katre Maasalu ◽  
Ene Reimann ◽  
Aare Märtson ◽  
Sulev Kõks
Keyword(s):  
Pilot Study ◽  
Osteogenesis Imperfecta ◽  
Bone Metabolism ◽  
Rna Sequencing ◽  
Whole Blood ◽  
Genetic Disorder ◽  
Future Research ◽  
Sequencing Analysis ◽  
Interferon Signaling ◽  
Differently Expressed Genes

Abstract Background Osteogenesis imperfecta (OI) is a rare genetic disorder in which the patients suffer from numerous fractures, skeletal deformities and bluish sclera. The disorder ranges from a mild form to severe and lethal cases. The main objective of this pilot study was to compare the blood transcriptional landscape of OI patients with COL1A1 pathogenic variants and their healthy relatives, in order to find out different gene expression and dysregulated molecular pathways in OI. Methods We performed RNA sequencing analysis of whole blood in seven individuals affected with different OI severity and their five unaffected relatives from the three families. The data was analyzed using edgeR package of R Bioconductor. Functional profiling and pathway analysis of the identified differently expressed genes was performed with g:GOSt and MinePath web-based tools. Results We identified 114 differently expressed genes. The expression of 79 genes was up-regulated, while 35 genes were down-regulated. The functional analysis identified a presence of dysregulated interferon signaling pathways (IFI27, IFITM3, RSAD12, GBP7). Additionally, the expressions of the genes related to extracellular matrix organization, Wnt signaling, vitamin D metabolism and MAPK-ERK 1/2 pathways were also altered. Conclusions The current pilot study successfully captured the differential expression of inflammation and bone metabolism pathways in OI patients. This work can contribute to future research of transcriptional bloodomics in OI. Transcriptional bloodomics has a strong potential to become a major contributor to the understanding of OI pathological mechanisms, the discovery of phenotype modifying factors, and the identification of new therapeutic targets. However, further studies in bigger cohorts of OI patients are needed to confirm the findings of the current work.

scholarly journals Bisphosphonate treatment alters the skeletal response to mechanical stimulation in children with osteogenesis imperfecta; a pilot study

JBMR Plus ◽  
2021 ◽  
Author(s):  
Siva Sithambaran ◽  
Rachel Harrison ◽  
Sujatha Gopal‐Kothandapandi ◽  
Alan Rigby ◽  
Nick Bishop
Keyword(s):  
Pilot Study ◽  
Osteogenesis Imperfecta ◽  
Mechanical Stimulation ◽  
Bisphosphonate Treatment

Pilot study on criteria in cavity preparation-facts or artifacts?

1973 ◽  
Vol 37 (11) ◽  
pp. 27-31 ◽  
Author(s):  
G Salvendy ◽  
WM Hinton ◽  
GW Ferguson ◽  
PR Cunningham
Keyword(s):  
Pilot Study ◽  
Cavity Preparation
Sign in / Sign up

Export Citation Format

Share Document