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.

scholarly journals The Association between Bone Mineral Density and Periodontal Disease in Middle-Aged Adults

2021 ◽  
Vol 18 (6) ◽  
pp. 3321
Author(s):  
Hsin-Hua Chou ◽  
Sao-Lun Lu ◽  
Sen-Te Wang ◽  
Ting-Hsuan Huang ◽  
Sam Li-Sheng Chen
Keyword(s):  
Bone Mineral Density ◽  
Young Adults ◽  
Bone Mass ◽  
Periodontal Disease ◽  
Bone Mineral ◽  
Intervention Program ◽  
Past History ◽  
Low Bone Mass ◽  
Mineral Density ◽  
Periodontal Index

The association between osteoporosis and periodontal disease (PD) has been revealed by previous studies, but there have been few studies on the association in younger adults. We enrolled a total of 7298 adults aged 40 to 44 who underwent PD screening between 2003 and 2008. Data on quantitative ultrasound for the measurement of bone mineral density (BMD) were collected for the diagnostic criteria of osteopenia and osteoporosis. The Community Periodontal Index (CPI) was measured for defining PD. A multiple logistic regression model was used to assess the effect of low bone mass on the risk of PD. Of 7298 enrollees, 31% had periodontal pockets >3 mm, 36.2% had osteopenia, and 2.1% had osteoporosis. The 39.8% of PD prevalence was high in adults with osteoporosis, followed by 33.3% in osteopenia. A negative association was found between BMD and CPI value (p < 0.0001). Low bone mass was associated with the risk of PD (adjusted OR: 1.13; 95% CI:1.02–1.26) after adjusting the confounding factors, including age, gender, education level, overweight, smoking status, past history of osteoporosis, and diabetes mellitus. An association between BMD and PD among young adults was found. An intervention program for the prevention of PD and osteoporosis could be considered starting in young adults.

scholarly journals Serum sclerostin levels in men with idiopathic osteoporosis

2013 ◽  
Vol 168 (4) ◽  
pp. 615-620 ◽  
Author(s):  
B Lapauw ◽  
S Vandewalle ◽  
Y Taes ◽  
S Goemaere ◽  
H Zmierczak ◽  
...  
Keyword(s):  
Bone Mass ◽  
Bone Mineral ◽  
Quantitative Computed Tomography ◽  
Whole Body ◽  
Control Group ◽  
Volumetric Bone Mineral Density ◽  
Low Bone Mass ◽  
Mineral Density ◽  
Bone Parameters ◽  
Idiopathic Osteoporosis

ObjectiveSclerostin inhibits osteoblast differentiation and bone formation. If aberrant sclerostin action is involved in less efficient bone acquisition in men with idiopathic low bone mass, this might be reflected in higher serum sclerostin levels.MethodsIn 116 men with idiopathic osteoporosis (≤65 years old), 40 of their sons and healthy controls, areal bone parameters were measured using dual-energy X-ray absorptiometry, and volumetric and geometric bone parameters were measured using peripheral quantitative computed tomography. Serum analytes were measured using immunoassays and estradiol (E2) levels using liquid chromatography–tandem mass spectrometry.ResultsMen with idiopathic low bone mass had lower levels of sclerostin than the controls (0.54±0.17 vs 0.66±0.23 ng/ml;P<0.001). In both groups, sclerostin levels were strongly associated with age; when adjusting for age, no associations with anthropometrics were observed (P>0.14). In multivariate analyses, sclerostin levels displayed a positive association with whole-body bone mineral content (BMC) and areal BMD (aBMD), as well as with trabecular and cortical volumetric bone mineral density (vBMD) at the tibia in the probands. No clear associations were observed in the control group, neither were sclerostin levels associated with BMC at the radius or lumbar spine (allP>0.11). Testosterone, but not E2, was inversely related to sclerostin levels in the probands. No difference in sclerostin levels was found in their sons when compared with their controls.ConclusionLower rather than higher serum sclerostin levels in the probands with idiopathic low bone mass suggest that aberrant sclerostin secretion is not involved in the pathogenesis of low bone mass in these subjects.

scholarly journals Fat Mass Exerts a Greater Effect on Cortical Bone Mass in Girls than Boys

2010 ◽  
Vol 95 (2) ◽  
pp. 699-706 ◽  
Author(s):  
Adrian Sayers ◽  
Jonathan H. Tobias
Keyword(s):  
Bone Mineral Density ◽  
Bone Mass ◽  
Cortical Bone ◽  
Bone Mineral ◽  
Fat Mass ◽  
Quantitative Computed Tomography ◽  
Positive Association ◽  
Mineral Density ◽  
Cortical Bone Mineral Density ◽  
Cortical Bone Mass

Abstract Context: It is unclear whether fat mass (FM) and lean mass (LM) differ in the way they influence cortical bone development in boys and girls. Objective: The aim of the study was to investigate the contributions of total body FM and LM to parameters related to cortical bone mass and geometry. Design/Setting: We conducted a longitudinal birth cohort study, the Avon Longitudinal Study of Parents and Children. Participants: A total of 4005 boys and girls (mean age, 15.5 yr) participated in the study. Outcome Measures: We measured cortical bone mass, cortical bone mineral content (BMCC), cortical bone mineral density, periosteal circumference (PC), and endosteal circumference by tibial peripheral quantitative computed tomography. Results: LM had a similar positive association with BMCC in boys and girls [regression coefficients with 95% confidence interval (CI); P for gender interactions: boys/girls, 0.952 (0.908, 0.997); P = 0.85]. However, the mechanisms by which LM influenced bone mass differed according to gender because LM was positively associated with PC more strongly in girls [boys, 0.579 (0.522, 0.635); girls, 0.799 (0.722, 0.875); P &lt; 0.0001], but was only associated with cortical bone mineral density in boys [boys, 0.443 (0.382, 0.505); girls, 0.014 (−0.070, 0.097); P &lt; 0.0001]. There was a stronger positive association between FM and BMCC in girls [boys, 0.227 (0.185, 0.269); girls, 0.355 (0.319, 0.392); P &lt; 0.0001]. This reflected both a greater positive association of FM with PC in girls [boys, 0.213 (0.174, 0.253); girls, 0.312 (0.278, 0.347); P = 0.0002], and a stronger negative association with endosteal circumferencePC [boys, −0.059 (−0.096, 0.021); girls, −0.181 (−0.215, −0.146); P &lt; 0.0001]. Conclusions: Whereas LM stimulates the accrual of cortical bone mass to a similar extent in boys and girls, FM is a stronger stimulus for accrual of cortical bone mass in girls, reflecting a greater tendency in females for FM to stimulate periosteal growth and suppress endosteal expansion.

Bone mineral density and low bone mass in severely burned patients: A retrospective cohort study

Bone ◽  
2021 ◽  
Vol 143 ◽  
pp. 115782
Author(s):  
Salvador Israel Macías-Hernández ◽  
Rafael Zepeda-Mora ◽  
Laura Torres-Mondragón ◽  
Gerardo Martínez Morales ◽  
Karina Tolentino-Bazan ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Cohort Study ◽  
Bone Mass ◽  
Bone Mineral ◽  
Retrospective Cohort Study ◽  
Retrospective Cohort ◽  
Low Bone Mass ◽  
Mineral Density
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