Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure

2021 ◽  
Author(s):  
Kaitlin L Ballenger ◽  
Nicol Tugarinov ◽  
Sara K Talvacchio ◽  
Marianne M Knue ◽  
An N Dang Do ◽  
...  
Keyword(s):  
Energy Expenditure ◽  
Osteogenesis Imperfecta ◽  
Type I Collagen ◽  
Resting Energy Expenditure ◽  
Type I ◽  
Healthy Controls ◽  
Type Iv ◽  
Reduced Mobility ◽  
The Impact ◽  
Resting Energy

Abstract Context Mutations in type I collagen or collagen-related proteins cause Osteogenesis Imperfecta (OI). Energy expenditure and body composition in OI could reflect reduced mobility, or intrinsic defects in osteoblast differentiation increasing adipocyte development. Objective Compare adiposity and resting energy expenditure (REE) in OI and healthy controls (HC), for OI genotype- and Type-associated differences. Design/Setting/Participants We studied 90 participants, 30 with OI (13 COL1A1 Gly, 6 COL1A2 Gly, 3 COL1A1 non-Gly, 2 COL1A2 non-Gly, 6 non-COL; 8 Type III, 16 Type IV, 4 Type VI, 1 Type VII, 1 Type XIV) and 60 HC with sociodemographic characteristics/BMI/BMIz similar to the OI group. Participants underwent dual-energy X-ray absorptiometry to determine lean mass and fat mass percentage (FM%) and REE. FM% and REE were compared, adjusting for covariates to examine the relationship of OI genotypes and phenotypic Types. Results FM% did not differ significantly in all patients with OI versus HC (OI: 36.6±1.9%, HC: 32.7±1.2%, p =0.088). FM% was, however, greater than HC for those with non-COL variants (p=0.018). FM% did not differ from HC among OI Types (p’s>0.05). Overall, covariate-adjusted REE did not differ significantly between OI and HC (OI: 1376.5±44.7 kcal/d, healthy controls: 1377.0±96 kcal/d p=0.345). However, those with non-COL variants (p=0.034) and Type VI OI (p=0.04) had significantly lower REE than HC. Conclusions Overall, patients with OI did not significantly differ in either extra-marrow adiposity or REE from BMI-similar HC. However, reduced REE among those with non-COL variants may contribute to greater adiposity.

Resting energy expenditure in OSAS: the impact of a single CPAP application

2015 ◽  
Vol 20 (1) ◽  
pp. 121-128 ◽  
Author(s):  
Katalin Fekete ◽  
Afroditi K. Boutou ◽  
Georgia Pitsiou ◽  
Nikolaos Chavouzis ◽  
Athanasia Pataka ◽  
...  
Keyword(s):  
Energy Expenditure ◽  
Resting Energy Expenditure ◽  
The Impact ◽  
Resting Energy

Validity of Predictive Equations for Resting Energy Expenditure in Greek Adults

2018 ◽  
Vol 72 (2) ◽  
pp. 134-141 ◽  
Author(s):  
Maria I. Maraki ◽  
Demosthenes B. Panagiotakos ◽  
Lisa T. Jansen ◽  
Costas Anastasiou ◽  
Anastasios Papalazarou ◽  
...  
Keyword(s):  
Energy Expenditure ◽  
Age Groups ◽  
Resting Energy Expenditure ◽  
Type I ◽  
Group Level ◽  
Altman Analysis ◽  
Bland Altman Analysis ◽  
The Individual ◽  
Greek Adults ◽  
Resting Energy

Aim: To examine the validity of published resting energy expenditure (REE) equations in Greek adults, and if indicated, develop new cohort-specific predictive REE equations. Methods: Indirect calorimetry and anthropometric data were obtained from 226 adult volunteers of diverse age groups and body mass index ranges (18–60 years, 16.6–67.7 kg·m–2). Measured REE was compared to preexisting prediction equations via correlation, regression, and Bland-Altman analysis. Then, cohort-specific REE equations were developed using curve estimation and nonlinear regression. To reduce type I error, presently derived equations were validated by splitting the sample into a training and validation group. Results: Preexisting equations over-predicted in-cohort REE. Equations by Livigston and Kohlstadt were most accurate at the individual level (63% accuracy), while formulas by Owen and collaborators elicited highest accuracy at the group level (–1.8% bias). Bland-Altman analysis showed proportional bias for most equations. Currently developed equations showed highest overall accuracy with 70% at the individual and group level (1.0% bias), with small differences between measured and predicted REE values (mean, 95% CI 36 [–15 to 88] kcal·day–1). Conclusion: Data indicate currently developed equations to be the most accurate and valid for estimating REE in Greek adults. Further studies should examine the developed equations in an independent sample.

scholarly journals Collagen metabolism in cultured osteoblasts from osteogenesis imperfecta patients

1992 ◽  
Vol 286 (1) ◽  
pp. 73-77 ◽  
Author(s):  
M Mörike ◽  
R E Brenner ◽  
G B Bushart ◽  
W M Teller ◽  
U Vetter
Keyword(s):  
Osteogenesis Imperfecta ◽  
Type I Collagen ◽  
Collagen Type ◽  
Bone Cells ◽  
Collagen Type I ◽  
Collagen Metabolism ◽  
Type I ◽  
Type Iii ◽  
Type Iv

Collagen produced in vitro by bone cells isolated from 19 patients with different forms of osteogenesis imperfecta (OI) was analysed. Clinically, four patients were classified as OI type I, 10 patients as OI type III and five patients as OI type IV. Bone cells of 12 of the 19 OI patients produced structurally abnormal type I collagen. Electrophoretically uniformly slower migrating collagen type I alpha-chains were found in one case of OI type I, in seven cases of OI type III and in one case of OI type IV; two cultures of OI type III produced two different populations of collagen type I alpha-chains, and one culture of OI type IV showed reduction-sensitive dimer formation of alpha 1(I) chains, resulting from the inadequate incorporation of a cysteine residue into the triple helical domain of alpha 1(I). Quantitative analysis of collagen metabolism led to the distinction of two groups of cultured OI osteoblasts. In osteoblasts of OI type I, mainly production of collagen was decreased, whereas secretion, processing and pericellular accumulation of (pro)collagen type I was similar to that in control osteoblasts. In contrast, in osteoblasts of OI types III and IV, production as well as secretion, processing and pericellular accumulation of (pro)collagen type I were significantly decreased. Low levels of type I collagen were found irrespective of the presence or absence of structural abnormalities of collagen type I in all OI types.

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