scholarly journals Abnormal craniofacial and spinal bone development with col2a1a depletion in a zebrafish model of CHARGE syndrome

2020 ◽  
Author(s):  
Maximilian Breuer ◽  
Maximilian Rummler ◽  
Charlotte Zaouter ◽  
Bettina M. Willie ◽  
Shunmoogum A. Patten
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Bone Development ◽  
Morphological Changes ◽  
Charge Syndrome ◽  
Mineral Density ◽  
Zebrafish Model ◽  
Weberian Apparatus ◽  
Underlying Mechanisms ◽  
Osteoblast Markers

AbstractCHARGE syndrome patients commonly display craniofacial abnormalities. Furthermore, most patients show features of idiopathic scoliosis, reduced bone mineral density and in a few cases osteopenia. While several clinical cases and studies have documented the skeletal deformities in CHARGE syndrome bearing CHD7 mutations, the underlying mechanisms of the disorder remain elusive. Here, we detect and quantitatively analyze skeletal abnormalities in larval and adult chd7-/- zebrafish.We show that young chd7-/- larvae present with abnormal craniofacial development, especially related to cartilage. We also observe scoliosis-like spinal deformations at 9 dpf. Gene expression analysis confirmed the reduction of osteoblast markers and Pparγ targets. MicroCT analyses identified abnormal craniofacial structures, Weberian apparatus and vertebral body morphology in chd7-/- mutants, with highly mineralized inclusions, along with significant variances in bone mineral density and bone volume. Notably, we detect a specific depletion of Col2a1a in the cartilage of craniofacial regions and vertebrae, in line with a significantly reduced number of chondrocytes.Our study is the first to elucidate the mechanisms underlying morphological changes in craniofacial structure and vertebrae of adult chd7-/- zebrafish. The chd7-/- mutant zebrafish will be beneficial in future investigations of the underlying pathways of both craniofacial and spinal deformities commonly seen in CHARGE syndrome.

Correlation of quantitative ultrasound measurements with material properties and bone mineral density in the equine metacarpus

2004 ◽  
Vol 1 (1) ◽  
pp. 61-69
Author(s):  
G Whan ◽  
J Runciman ◽  
M Hurtig
Keyword(s):  
Bone Mineral Density ◽  
Tensile Strength ◽  
Ultimate Tensile Strength ◽  
Bone Mineral ◽  
Quantitative Ultrasound ◽  
Material Properties ◽  
Modulus Of Elasticity ◽  
Bone Development ◽  
Mineral Density ◽  
Metacarpal Bones

AbstractThis study explored the relationship between speed-of-sound (SOS) measurements and the material properties of metacarpal bones in order to validate a device that uses linear unicortical transmission of ultrasound. SOS, ultimate tensile strength and modulus of elasticity were determined at nine experimental sites. Measurements of SOS and bone mineral density were collected at three of the nine experimental sites. Twenty-five equine metacarpal (MC3) bones were used. Micro-computerized tomography was used to validate testing protocols. SOS measurements were highly site- and horse-dependent. One or more statistically significant correlations were found with ultimate tensile strength, modulus of elasticity and bone mineral density in four of the nine experimental sites. A previously described pattern of high lateral and medial cortical stiffness and SOS was found in the mid-diaphysis that correlated with bone mineral density (r2=0.25, P<0.01) and modulus of elasticity (r2=0.14, P<0.05). SOS and ultimate tensile strength correlated strongly in the distal dorsal metacarpus (r2=0.47, P<0.001). Lateral and medial distal-level sites just above the fetlock joint had a variable amount of cancellous bone, reducing the ultimate strength of these sites. The study indicates that quantitative ultrasound is sensitive to differences in the quality of equine metacarpal bone, so this technique may be useful for monitoring adaptation to exercise and bone development.

Morphological Changes of Lumbar Vertebral Bodies and Intervertebral Discs Associated With Decrease in Bone Mineral Density of the Spine

Spine ◽  
2012 ◽  
Vol 37 (23) ◽  
pp. E1415-E1421 ◽  
Author(s):  
Anthony W. L. Kwok ◽  
Yi-Xiang J. Wang ◽  
James F. Griffith ◽  
Min Deng ◽  
Jason C. S. Leung ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Morphological Changes ◽  
Intervertebral Discs ◽  
Mineral Density ◽  
Vertebral Bodies

scholarly journals Loss of PiT-2 results in abnormal bone development and decreased bone mineral density and length in mice

2018 ◽  
Vol 495 (1) ◽  
pp. 553-559 ◽  
Author(s):  
Shunsuke Yamada ◽  
Mary C. Wallingford ◽  
Suhaib Borgeia ◽  
Timothy C. Cox ◽  
Cecilia M. Giachelli
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Bone Development ◽  
Mineral Density

Gene polymorphisms, bone mineral density and bone mineral content in young children:the Iowa bone development study

2003 ◽  
Vol 14 (8) ◽  
pp. 650-658 ◽  
Author(s):  
Marcia C. Willing ◽  
James C. Torner ◽  
Trudy L. Burns ◽  
Kathleen F. Janz ◽  
Teresa Marshall ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral Content ◽  
Bone Mineral ◽  
Gene Polymorphisms ◽  
Mineral Content ◽  
Bone Development ◽  
Mineral Density ◽  
Development Study

Dose-dependent effects of probiotic supplementation on bone characteristics and mineralisation in meat-type female turkeys

2018 ◽  
Vol 58 (3) ◽  
pp. 507 ◽  
Author(s):  
E. Tomaszewska ◽  
M. Kwiecień ◽  
P. Dobrowolski ◽  
R. Klebaniuk ◽  
S. Muszyński ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Tissue ◽  
Bone Mineral ◽  
Bone Development ◽  
Dependent Manner ◽  
Mineral Density ◽  
Mineral Concentration ◽  
Probiotic Supplementation ◽  
Cross Sectional ◽  
Dose Dependent

To evaluate the influence of the probiotic on bone tissue in female turkeys, bone mineral density and geometrical and mechanical properties of the tibia and femur were determined in a dose-dependent manner (107 colony-forming units (cfu)/g, 108 cfu/g, 109 cfu/g). No effect of the treatments on bone mass and wall thickness of femur was observed, but the administration of the probiotic resulted in the elongation and the reduction of both strengths. The increase in the cross-sectional area of the femur was dose-dependent. Probiotic supplementation at a concentration of 108 cfu/g resulted in a reduction in ultimate strength, but at a concentration of 107 cfu/g, it resulted in the enhancement of the maximum elastic strength of the tibia compared with other groups. The influence of the probiotic administration on tibia geometry was dose-dependent. No effect of the treatments on the relative bone weight and the ratio of mass to length was observed. In general, the influence of the probiotic administration on bone mineral density, bone mineral concentration, bone tissue density, and bone ash, calcium and phosphorus concentrations was dose-dependent. The investigated properties of long bones in female turkeys are affected through probiotic-supplemented diets in a dose-dependent manner. However, on the basis of densitometry, it seems that the administration of the probiotic at a higher concentration of cells is more beneficial for bone development in turkeys.

Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin

2018 ◽  
Vol 31 (3) ◽  
pp. 361-367 ◽  
Author(s):  
Sara Vandewalle ◽  
Eva Van Caenegem ◽  
Margarita Craen ◽  
Youri Taes ◽  
Jean-Marc Kaufman ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Low Dose ◽  
Adult Height ◽  
Linear Growth ◽  
Bone Development ◽  
Pubertal Development ◽  
Mineral Density ◽  
Bone Parameters ◽  
Testosterone Substitution

Abstract Background: Sex steroids are essential for sexual maturation, linear growth and bone development. However, there is no consensus on the optimal timing, dosage and dosage interval of testosterone therapy to induce pubertal development and achieve a normal adult height and bone mass in children with hypogonadism. Case presentation: A monozygotic monochorial male twin pair, of which one boy was diagnosed with anorchia at birth due to testicular regression syndrome was followed from the age of 3 until the age of 18 years. Low dose testosterone substitution (testosterone esters 25 mg/2 weeks) was initiated in the affected twin based on the start of pubertal development in the healthy twin and then gradually increased accordingly. Both boys were followed until age 18 and were compared as regards to linear growth, sexual maturation, bone maturation and bone development. Before puberty induction both boys had a similar weight and height. During puberty, a slightly faster weight and height gain was observed in the affected twin. Both boys ended up however, with a similar and normal (near) adult height and weight and experienced a normal development of secondary sex characteristics. At the age of 17 and 18 years, bone mineral density, body composition and volumetric bone parameters at the forearm and calf were evaluated in both boys. The affected boy had a higher lean mass and muscle cross-sectional area. The bone mineral density at the lumbar spine and whole body was similar. Trabecular and cortical volumetric bone parameters were comparable. At one cortical site (proximal radius), however, the affected twin had a smaller periosteal and endosteal circumference with a thicker cortex. Conclusions: In conclusion, a low dose testosterone substitution in bilateral anorchia led to a normal onset of pubertal development and (near) adult height. Furthermore, there was no difference in bone mineral density at the age of 17 and 18 years.

scholarly journals Еffects of Antipsychotics on Bone Mineral Density in Schizophrenia

2018 ◽  
Vol 0 (0) ◽  
Author(s):  
Aleksandra Koricanac ◽  
Milica Milovana Borovcanin ◽  
Aleksandra Tomic Lucic
Keyword(s):  
Bone Mineral Density ◽  
Bone Metabolism ◽  
Bone Mineral ◽  
Life Quality ◽  
Mineral Density ◽  
Lipid Status ◽  
Increase Food Intake ◽  
Density Values ◽  
Underlying Mechanisms ◽  
Immune Changes

Abstract Previous researches have shown that patients with schizophrenia who were using antipsychotics in their treatment developed changes in Bone Mineral Density and body composition, leading to osteoporosis and modifications in weight, skeletal muscle mass index and percent of fat tissue. Results of many studies suggested that the use of antipsychotic causes hyperprolactinemia and consequently lower bone mineral density values were observed. Further, antipsychotics increase food intake and have possible effects on metabolism, causing changes in weight, glucose level and lipid status, all of which can be a risk for developing metabolic syndrome and result in changing of bone mineral density. Antipsychotics change cytokine profi les in patients with schizophrenia and on the other hand the influence of T cells, B cells and inflammatory cytokines on osteoclasts and on osteoblasts was also established. In assessing the effects of antipsychotic on bone metabolism very important is to consider the duration of the treatment and clinical course of the disease, but undeniable effect is careless life style and inadequate physical activity that patients with schizophrenia have. Our attempt is to give an overview of the newest findings in this field, regarding the direct effects of antipsychotics on the bone metabolism, but also through prolactine elevation, metabolic and immune changes. Better understanding of the underlying mechanisms of schizophrenia and changes in bone mineral density could improve our clinical practice: affect to choice of the individually most appropriate antipsychotic, point to the need to monitor possible immunmetabolic changes during the treatment and improvement of the life quality of this vulnerable population.

scholarly journals Underlying Mechanisms Between Diabetes Mellitus and Osteoporosis

2018 ◽  
Vol 14 (2) ◽  
pp. 65
Author(s):  
Oscar Rosero Olarte ◽  
Mauricio Alvarez Andrade ◽  
◽  
Keyword(s):  
Diabetes Mellitus ◽  
Bone Mineral Density ◽  
Bone Turnover ◽  
Bone Mineral ◽  
Bone Disease ◽  
Diagnostic Methods ◽  
Mineral Density ◽  
X Ray ◽  
Increased Risk ◽  
Underlying Mechanisms

Several studies have linked diabetes mellitus with an increased risk of bone fractures. Patients with type 1 diabetes have lower bone mineral density and patients with type 2 diabetes have an increased risk of fracture despite normal or high bone mineral density, measured by dual energy x-ray absorptiometry. Different mechanisms have been proposed in the pathophysiology of bone disease in diabetic patients. The mechanisms involved include microvasculature changes, advanced glycation end products accumulation, and altered osteoblast–osteoclast function with increased sclerostin, decreased insulin-like growth factor 1 (IGF1), decreased osteocalcin, and other molecular alterations, leading to a decrease in bone turnover and altered bone quality. Other factors, such as increased risk of falls related to diabetic neuropathy and diabetic retinopathy have also been proposed. Different diagnostic methods have been described for the study of bone disease in patients with diabetes, due to the lack of correlation between bone mineral density measured by dual x-ray absorptiometry and the fracture risk in this group of patients. These methods include the evaluation of bone turnover markers, the FRAX score, the trabecular bone score, and the evaluation of microarchitecture with high-resolution peripheral quantitative tomography. This editorial provides a short overview of the underlying mechanisms between diabetes mellitus and osteoporosis, and the diagnostic methods used to evaluate these patients.

scholarly journals SWIMMING AND BONE MINERAL DENSITY: A SPORT WITHOUT OSTEOGENIC STIMULATION?

2020 ◽  
Vol 26 (2) ◽  
pp. 113-116
Author(s):  
Rodrigo Barbosa de Albuquerque ◽  
Amandio Aristides Rihan Geraldes ◽  
Bruno Rangoussis ◽  
Fabiano de Souza Fonseca ◽  
Deocleciano de Carvalho Nascimento Neto ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Bone Development ◽  
Young Male ◽  
Control Group ◽  
Mineral Density ◽  
Level Of Evidence ◽  
Weekly Training ◽  
Opposite Sex ◽  
Retrospective Comparative Study

ABSTRACT Introduction: The osteogenic effects generated by different sports are the subject of a growing number of research projects. Regular physical activity is one of the main recommendations for the stimulation of bone mineral density (BMD). However, evidence has shown that not all physical activities promote similar effects. In this context, the osteogenic effects of swimming need to be clarified. Objective: To verify and compare total and regional BMD levels between male and female swimming athletes and university non-athletes. Methods: The sample, composed of 60 participants of both sexes, was divided into two groups: 30 swimming athletes (GA): 15 men (22.2 ± 3.92 years; 73.61 ± 16.55 kg; 1.76 ± 0.08 m) and 15 women (21.91 ± 2.21 years; 53.15 ± 8.36 kg; 1.64 ± 0.06 m) and a control group (CG): 30 university non-athletes: 15 men (20.73 ± 1.27 years; 74.4 ± 5.54 kg, 1.74 ± 0.04 m) and 15 women (19.93 ± 2.05 years; 59.72 ± 1.33 kg; 1.63 ± 0.004 m). BMD (total, arms, legs, pelvis and spine) was measured using dual energy X-ray absorptiometry (DXA). The results were compared with one-way ANOVA using Scheffé's post hoc test, when necessary. Results: When compared with the women, the men of both groups presented superior results for all BMD values analyzed. In addition, GA had higher BMD of arms and spine when compared to the CG, both for males (p = 0.016 and p = 0.001, respectively) and females (p = 0.0001 and p = 0.011, respectively). Conclusions: The results of this study demonstrate that young male adults, athletes and non-athletes, present higher levels of BMD than their peers of the opposite sex. In addition, the results suggest that when undertaken for competitive purposes and with a weekly training volume of 12 hours or more, swimming may be beneficial for the bone development of young athletes when compared to non-athlete controls. Level of evidence III; Retrospective comparative study.

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