-
European Journal of Medical Genetics Apr 2024Osteogenesis imperfecta (OI) is a rare phenotypically and genetically heterogeneous group of inherited skeletal dysplasias. The hallmark features of OI include bone...
Osteogenesis imperfecta (OI) is a rare phenotypically and genetically heterogeneous group of inherited skeletal dysplasias. The hallmark features of OI include bone fragility and susceptibility to fractures, bone deformity, and diminished growth, along with a plethora of associated secondary features (both skeletal and extraskeletal). The diagnosis of OI is currently made on clinical grounds and may be confirmed by genetic testing. However, imaging remains pivotal in the evaluation of this disease. The aim of this article is to review the current role played by the various radiologic techniques in the diagnosis and monitoring of OI in the postnatal setting as well as to discuss recent advances and future perspectives in OI imaging. Conventional Radiography and Dual-energy X-ray Absorptiometry (DXA) are currently the two most used imaging modalities in OI. The cardinal radiographic features of OI include generalized osteopenia/osteoporosis, bone deformities, and fractures. DXA is currently the most available technique to assess Bone Mineral Density (BMD), specifically areal BMD (aBMD). However, DXA has important limitations and cannot fully characterize bone fragility in OI based on aBMD. Novel DXA-derived parameters, such as Trabecular Bone Score (TBS), may provide further insight into skeletal changes induced by OI, but evidence is still limited. Techniques like Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) can be useful as problem-solvers or in specific settings, including the evaluation of cranio-cervical abnormalities. Recent evidence supports the use of High-Resolution peripheral Quantitative Computed Tomography (HR-pQCT) as a promising tool to improve the characterization of bone fragility in OI. However, HR-pQCT remains a primarily research technique at present. Quantitative Computed Tomography (QCT) is an alternative to DXA for the determination of BMD at central sites, with distinct advantages but considerably higher radiation exposure. Quantitative Ultrasound (QUS) is a portable, inexpensive, and radiation-free modality that may complement DXA evaluation, providing information on bone quality. However, evidence of usefulness of QUS in OI is poor. Radiofrequency Echographic Multi Spectrometry (REMS) is an emerging non-ionizing imaging method that holds promise for the diagnosis of low BMD and for the prediction of fracture risk, but so far only one published study has investigated its role in OI. To conclude, several different radiologic techniques have proven to be effective in the diagnosis and monitoring of OI, each with their own specificities and peculiarities. Clinicians should be aware of the strategic role of the various modalities in the different phases of the patient care process. In this scenario, the development of international guidelines including recommendations on the role of imaging in the diagnosis and monitoring of OI, accompanied by continuous active research in the field, could significantly improve the standardization of patient care.
Topics: Humans; Osteogenesis Imperfecta; Bone Density; Osteoporosis; Absorptiometry, Photon; Fractures, Bone
PubMed: 38369057
DOI: 10.1016/j.ejmg.2024.104926 -
Anales de Pediatria Sep 2023Nutritional status assessment in anorexia nervosa (AN) includes the evaluation and monitoring of body composition throughout the treatment period. The gold standard for...
INTRODUCTION
Nutritional status assessment in anorexia nervosa (AN) includes the evaluation and monitoring of body composition throughout the treatment period. The gold standard for the study of body composition is dual-energy X-ray absorptiometry (DEXA), although electrical bioimpedance (BIA) is a more accessible, cheaper and faster method that does not involve exposure to radiation.
MATERIAL AND METHODS
We recruited 33 female adolescents with AN (age, 11.7-16.3 years) by consecutive sampling. We collected data on clinical, anthropometric and laboratory variables. Patients were assessed with BIA and DEXA at inclusion in the study and at the end of the study, with a mean duration of follow-up of 1 year, during the nutritional rehabilitation phase.
RESULTS
There was significant improvement in nutritional status, reflected by the body composition obtained by anthropometric measurements and BIA. The phase angle increased significantly during the follow-up. Greater weight loss was associated with the presence of secondary amenorrhoea and decreased bone mineral density in the spine.
CONCLUSIONS
Electrical BIA is a useful tool for assessment and monitoring of nutritional status in paediatric patients with AN. Dual-energy X-ray absorptiometry continues to be essential to assess bone mineral density. The role of hormones such as leptin remains to be elucidated.
Topics: Humans; Female; Adolescent; Child; Nutritional Status; Body Mass Index; Anorexia Nervosa; Body Composition; Bone Density
PubMed: 37563070
DOI: 10.1016/j.anpede.2023.06.015 -
Journal of Visualized Experiments : JoVE Sep 2023An X-ray computed tomography (CT) toolchain is presented to obtain tree-ring width (TRW), maximum latewood density (MXD), other density parameters, and quantitative wood...
An X-ray computed tomography (CT) toolchain is presented to obtain tree-ring width (TRW), maximum latewood density (MXD), other density parameters, and quantitative wood anatomy (QWA) data without the need for labor-intensive surface treatment or any physical sample preparation. The focus here is on increment cores and scanning procedures at resolutions ranging from 60 µm down to 4 µm. Three scales are defined at which wood should be looked at: (i) inter-ring scale, (ii) ring scale, i.e., tree-ring analysis and densitometry scale, as well as (iii) anatomical scale, the latter approaching the conventional thin-section quality. Custom-designed sample holders for each of these scales enable high-throughput scanning of multiple increment cores. A series of software routines were specifically developed to efficiently treat three-dimensional X-ray CT images of the tree cores for TRW and densitometry. This work briefly explains the basic principles of CT, which are needed for a proper understanding of the protocol. The protocol is presented for some known species that are commonly used in dendrochronology. The combination of rough density estimates, TRW and MXD data, as well as quantitative anatomy data, allows us to broaden and deepen current analyses for climate reconstructions or tree response, as well as further develop the field of dendroecology/climatology and archeology.
Topics: Trees; Wood; Climate; Tomography, X-Ray Computed; Software
PubMed: 37811928
DOI: 10.3791/65208 -
The American Journal of Clinical... Oct 2023Body composition assessment aids evaluation of energy stores and the impact of diseases and interventions on child growth. Current United States pediatric reference... (Observational Study)
Observational Study
BACKGROUND
Body composition assessment aids evaluation of energy stores and the impact of diseases and interventions on child growth. Current United States pediatric reference ranges from the National Health and Nutrition Examination Survey (NHANES) include 20% of children with obesity, body mass index of ≥95th percentile.
OBJECTIVES
This study aimed to develop dual energy X-ray absorptiometry (DXA) based reference ranges in a diverse cohort with low-obesity prevalence from the Bone Mineral Density in Childhood Study (BMDCS).
METHODS
This is a secondary analysis of a longitudinal, prospective, observational cohort. Healthy children (height and BMI within 3rd to 97th percentiles, ages 5-19 y at enrollment), from 5 United States centers were measured annually for ≤7 visits. Whole body scans were acquired using Hologic scanners. A subsample underwent repeat measurements to determine precision. We generated reference ranges for appendicular and total lean soft tissue mass index (LSTM Index), fat mass index (FMI), and other body composition measures. Resulting curves were compared to NHANES and across subgroups. Sex and age-specific equations were developed to adjust body composition Z-scores for height Z score.
RESULTS
We obtained 9846 scans of 2011 participants (51% female, 22% Black, 17% Hispanic, 48% White, 7% Asian/Pacific Islander, and 6% with obesity). Precision (percent coefficient of variation) ranged from 0.7% to 1.96%. Median and-2 standard deviation curves for BMDCS and NHANES were similar, but NHANES +2 standard deviation LSTM Index and FMI curves were distinctly greater than the respective BMDCS curves. Subgroup differences were more extreme for appendicular LSTM Index-Z (mean ± SD: Asian -0.52 ± 0.93 compared with Black 0.77 ± 0.87) than for FMI-Z (Hispanic 0.29 ± 0.98 compared with Black -0.14 ± 1.1) and were smaller for Z-scores adjusted for height Z-score.
CONCLUSIONS
These reference ranges add to sparse normative data regarding body composition in children and adolescents and are based on a cohort with an obesity prevalence similar to current BMI charts. Awareness of subgroup differences aids in interpreting results.
Topics: Adolescent; Humans; Female; Child; United States; Male; Absorptiometry, Photon; Bone Density; Nutrition Surveys; Reference Values; Prospective Studies; Body Composition; Obesity; Body Mass Index
PubMed: 37598746
DOI: 10.1016/j.ajcnut.2023.08.006 -
Clinical Nutrition (Edinburgh, Scotland) Jul 2023Lean mass is considered the best predictor of bone mass, as it is an excellent marker of bone mechanical stimulation, and changes in lean mass are highly correlated with...
BACKGROUND AND AIMS
Lean mass is considered the best predictor of bone mass, as it is an excellent marker of bone mechanical stimulation, and changes in lean mass are highly correlated with bone outcomes in young adults. The aim of this study was to use cluster analysis to examine phenotype categories of body composition assessed by lean and fat mass in young adults and to assess how these body composition categories are associated with bone health outcomes.
METHODS
Cluster cross-sectional analyses of data from 719 young adults (526 women) aged 18-30 years from Cuenca and Toledo, Spain, were conducted. Lean mass index (lean mass (kg)/height (m)), fat mass index (fat mass (kg)/height (m)), bone mineral content (BMC) and areal bone mineral density (aBMD) were assessed by dual-energy X-ray absorptiometry.
RESULTS
A cluster analysis of lean mass and fat mass index z scores resulted in a classification of a five-category cluster solution that could be interpreted according to the body composition phenotypes of individuals as follows: high adiposity-high lean mass (n = 98), average adiposity-high lean mass (n = 113), high adiposity-average lean mass (n = 213), low adiposity-average lean mass (n = 142), and average adiposity-low lean mass (n = 153). ANCOVA models showed that individuals in clusters with a higher lean mass had significantly better bone health (z score: 0.764, se: 0.090) than their peers in other cluster categories (z score: -0.529, se: 0.074) after controlling for sex, age, and cardiorespiratory fitness (p < 0.05). Additionally, subjects belonging to the categories with a similar average lean mass index but with high or low-adiposity levels (z score: 0.289, se: 0.111; z score: 0.086, se: 0.076) showed better bone outcomes when the fat mass index was higher (p < 0.05).
CONCLUSIONS
This study confirms the validity of a body composition model using a cluster analysis to classify young adults according to their lean mass and fat mass indices. In addition, this model reinforces the main role of lean mass on bone health in this population and that in phenotypes with high-average lean mass, factors associated with fat mass may also have a positive effect on bone status.
Topics: Humans; Bone Density; Cross-Sectional Studies; Absorptiometry, Photon; Body Composition; Obesity; Adiposity; Phenotype; Cluster Analysis; Body Mass Index
PubMed: 37244756
DOI: 10.1016/j.clnu.2023.05.006 -
PloS One 2023A reliable, widely available method to detect osteoporosis prior to fracture is needed. Serum levels of C-reactive protein may independently predict low bone mineral...
A reliable, widely available method to detect osteoporosis prior to fracture is needed. Serum levels of C-reactive protein may independently predict low bone mineral density (BMD) and high fracture risk. Existing empirical data focus on sexually and/or racially homogenous populations. This study tests the hypotheses that: C-reactive protein (1) negatively correlates with BMD and (2) fracture history, and (3) independently predicts BMD and fracture history in a diverse population. NHANES 2017-2020 pre-pandemic cycle data were analyzed in R studio. Strength and direction of relationships (-1 to +1) between variables were determined using Kendall's rank correlation coefficient (τ). Linear models were optimized to predict femoral neck or lumbar spine BMD. C-reactive protein positively correlated with femoral (τ = 0.09, p<0.0001) and spine BMD (τ = 0.10, p<0.0001). Individuals identifying as female demonstrated more robust, but still weak, correlations between C-reactive protein and femoral neck (τ = 0.15, p<0.0001; male, τ = 0.06, p = 0.051) and spine BMD (τ = 0.16, p<0.0001; male, τ = 0.06, p = 0.04). C-reactive protein positively correlated with fracture history (τ = 0.083, p = 0.0009). C-reactive protein significantly predicted femoral neck (R2 = 0.022, p = 0.0001) and spine BMD (R2 = 0.028, p<0.0001) and fracture history (R2 = 0.015, p<0.0001). Exploratory analyses identified weight was the single best predictor for femoral neck (R2 = 0.24, p<0.0001) and spine BMD (R2 = 0.21, p<0.0001). In sum, C-reactive protein statistically correlates with and predicts femoral neck and spine BMD, but the magnitude is too low to be biologically meaningful. While weight is a more robust predictor, individuals who are overweight or obese account for nearly half of all osteoporotic fractures, limiting the predictive power of this variable at identifying individuals at risk for osteoporosis. Identification of a robust predictor of fracture risk in a diverse population and across of range of body weights and compositions is needed.
Topics: Male; Humans; Female; Bone Density; C-Reactive Protein; Absorptiometry, Photon; Nutrition Surveys; Osteoporosis; Femur Neck; Lumbar Vertebrae
PubMed: 37824509
DOI: 10.1371/journal.pone.0288212 -
The Journal of Nutrition Sep 2023The ratio of calcium-to-magnesium intake (Ca:Mg) may be important for bone due to their competitive absorption. The Ca:Mg ratio has been related to health outcomes, but...
BACKGROUND
The ratio of calcium-to-magnesium intake (Ca:Mg) may be important for bone due to their competitive absorption. The Ca:Mg ratio has been related to health outcomes, but few studies have related it to bone.
OBJECTIVES
The purpose of this analysis was to examine associations between the Ca:Mg intake with bone mineral density (BMD) and osteoporosis among Puerto Rican adults.
METHODS
Adults, aged 47-79 y, from the Boston Puerto Rican Osteoporosis Study, with complete BMD and dietary data (n = 955) were included. BMD was assessed with dual-energy X-ray absorptiometry and diet by a food frequency questionnaire. Calcium and magnesium intakes from food were energy adjusted, and the Ca:Mg was calculated. Adjusted linear and logistic regression models were utilized for testing associations between Ca:Mg and bone outcomes.
RESULTS
Calcium intake was greater in the highest compared with lowest tertile, whereas magnesium intake was similar across tertiles. Mean BMD at hip sites was higher in the middle, compared with the lowest, tertile. Higher odds of osteoporosis were observed for the highest and lowest tertiles, compared with the middle tertile, after adjustment (T3 compared with T2 OR: 2.79; 95% CI: 1.47, 5.3; T1 compared with T2 OR: 2.01; 95% CI: 1.03, 3.92). Repeated analyses without supplement users (n = 432) led to stronger differences and ORs, but lost significance for some comparisons.
CONCLUSIONS
Dietary calcium and magnesium are important for bone, perhaps not independently. The Ca:Mg intake ratio appeared most protective within a range of 2.2-3.2, suggesting that a balance of these nutrients may be considered in recommendations for osteoporosis..
Topics: Humans; Absorptiometry, Photon; Bone Density; Calcium, Dietary; Dietary Supplements; Hispanic or Latino; Magnesium; Osteoporosis; Middle Aged; Aged
PubMed: 37164266
DOI: 10.1016/j.tjnut.2023.05.009 -
Clinical Nutrition (Edinburgh, Scotland) Jul 2023Sarcopenia is primarily a disease in older people characterized by reduced muscle mass and strength. Nevertheless, sarcopenia may, at least partially, have pediatric...
BACKGROUND AND AIM
Sarcopenia is primarily a disease in older people characterized by reduced muscle mass and strength. Nevertheless, sarcopenia may, at least partially, have pediatric origins. The study aimed to identify risk phenotypes for sarcopenia in healthy young people using clustering analysis procedures based on body composition and musculoskeletal fitness.
METHODS
We conducted a cluster cross-sectional analysis of data from 529 youth aged 10-18 yr. Body composition was assessed using whole-body dual-energy x-ray absorptiometry (DXA), determining: lean body mass index (LBMI, kg/m), fat body mass index (FBMI, kg/m), abdominal FBMI (kg/m), and lean body mass/fat body mass ratio (LBM/FBM); body mass index was also calculated (BMI, kg/m). Musculoskeletal fitness was assessed using handgrip strength (kg) and vertical jump power (W) tests. Results were presented as absolute values and adjusted by body mass. Plank endurance (s) was also assessed. All variables were sex and age in years standardized (Z-score). LBMI or LBM/FBM ratio ≤ -1 SD were used to identify participants at risk for sarcopenia. Maturity was estimated as the years of distance from the peak height velocity (PHV) age.
RESULTS
Using the Z-score means for body composition and musculoskeletal fitness and having LBMI or LBM/FBM ratio as the categorical variables (at risk vs. not at risk), the cluster analyses indicated three homogeneous groups (phenotypes, P): P1, risk body composition and unfit; P2, non-risk body composition and non-fit, and P3, non-risk body composition and fit. With the LBMI as a categorical variable, the ANOVA models showed that the body composition and absolute values of musculoskeletal fitness were in P1 < P2 < P3 and the estimated PHV age of P1 > P3 in both sexes (p < 0.001). Having the LBM/FBM as a categorical variable, higher values of BMI, FBMI, and abdominal FBMI, and lower values of handgrip strength and vertical jump power both adjusted for body mass and plank endurance were observed in P1 than in P2 and/or P3 and the P2 than in the P3 in boys and girls (p < 0.001).
CONCLUSIONS
Two risk phenotypes for sarcopenia were identified in apparently healthy young people: I. a low LBMI phenotype with low BMI and II. a low LBM to FBM phenotype with high BMI and FBMI. In both risk phenotypes I and II, musculoskeletal fitness was low. For screening, we suggest using absolute measures of handgrip strength and vertical jump power in phenotype I and body mass adjusted measures of these markers, as well as the plank endurance time in phenotype II.
Topics: Male; Female; Animals; Sarcopenia; Hand Strength; Cross-Sectional Studies; Body Composition; Body Mass Index; Absorptiometry, Photon; Phenotype; Cluster Analysis
PubMed: 37244754
DOI: 10.1016/j.clnu.2023.05.008 -
JMIR Public Health and Surveillance Apr 2024Osteopenia and osteoporosis are posing a long-term influence on the aging population's health contributing to a higher risk of mortality, loss of autonomy,...
BACKGROUND
Osteopenia and osteoporosis are posing a long-term influence on the aging population's health contributing to a higher risk of mortality, loss of autonomy, hospitalization, and huge health system costs and social burden. Therefore, more pertinent data are needed to demonstrate the current state of osteoporosis.
OBJECTIVE
This sampling survey seeks to assess the trends in the prevalence of osteopenia and osteoporosis in a Chinese Han population.
METHODS
A community-based cross-sectional study involving 16,377 participants used a multistage sampling method. Bone mineral density was measured using the quantitative ultrasonic densitometry. Student t test and Mann-Whitney U test were used to test the difference between normally and nonnormally distributed quantitative variables between male and female participants. A chi-square (χ) test was used to compare categorized variables. Stratified analysis was conducted to describe the prevalence rates of osteoporosis (T score ≤-2.5) and osteopenia (T score -2.5 to -1.0) across age, sex, calcium intake, and menopause. A direct standardization method was used to calculate the age-standardized prevalence rates of osteoporosis and osteopenia. T-score was further categorized into quartiles (T1-T4) by age- and sex-specified groups.
RESULTS
The prevalence rates of osteopenia and osteoporosis were 40.5% (6633/16,377) and 7.93% (1299/16,377), respectively, and the age-standardized prevalence rates were 27.32% (287,877,129.4/1,053,861,940) and 3.51% (36,974,582.3/1,053,861,940), respectively. There was an increase in osteopenia and osteoporosis prevalence from 21.47% (120/559) to 56.23% (754/1341) and 0.89% (5/559) to 17.23% (231/1341), respectively, as age increased from 18 years to 75 years old. The prevalence rates of osteopenia and osteoporosis were significantly higher in female participants (4238/9645, 43.94% and 1130/9645, 11.72%) than in male participants (2395/6732, 35.58% and 169/6732, 2.51%; P<.001), and in postmenopausal female participants (3638/7493, 48.55% and 1053/7493, 14.05%) than in premenopausal female participants (538/2026, 26.55% and 53/2026, 2.62%; P<.001). In addition, female participants with a history of calcium intake had a lower osteoporosis prevalence rate than female participants without any history of calcium intake in all age groups (P=.004). From low quartile to high quartile of T-score, the prevalence of diabetes mellitus (752/4037, 18.63%; 779/4029, 19.33%; 769/3894, 19.75%; and 869/3879, 22.4%) and dyslipidemia (2228/4036, 55.2%; 2304/4027, 57.21%; 2306/3891, 59.26%; and 2379/3878, 61.35%) were linearly increased (P<.001), while the prevalence of cancer (112/4037, 2.77%; 110/4029, 2.73%; 103/3894, 2.65%; and 77/3879, 1.99%) was decreased (P=.03).
CONCLUSIONS
Our data imply that as people age, osteopenia and osteoporosis are more common in females than in males, particularly in postmenopausal females than in premenopausal females, and bone mineral density significantly affects the prevalence of chronic diseases. These findings offer information that can be applied to intervention programs meant to prevent or lessen the burden of osteoporosis in China.
Topics: Male; Female; Humans; Aged; Adolescent; Calcium; Cross-Sectional Studies; Prevalence; Osteoporosis; Bone Diseases, Metabolic; Age Factors
PubMed: 38578689
DOI: 10.2196/48947 -
BMC Chemistry Jul 2023Two Chromatographic methods have been established and optimized for simultaneous determination of serdexmethylphenidate (SER.DMP) and dexmethylphenidate (DMP) in the...
Chromatographic reversed HPLC and TLC-densitometry methods for simultaneous determination of serdexmethylphenidate and dexmethylphenidate in presence of their degradation products-with computational assessment.
Two Chromatographic methods have been established and optimized for simultaneous determination of serdexmethylphenidate (SER.DMP) and dexmethylphenidate (DMP) in the presence of their degradation products. The first method is a reversed phase high performance liquid chromatography with diode array detection (HPLC-DAD). Isocratic separation was carried out on Waters X-bridge Shield RP column (150×3.9×5 μm particle size) using a mixture of 5 mM phosphate buffer (pH 5.5): acetonitrile (40:60, v/v) as a mobile phase, flow rate 1 mL/min and detection at 220 nm. The second method is a thin-layer chromatography (TLC)-densitometry method using methanol: chloroform (70:30, v/v) as a mobile phase and UV scanning at 220 nm. In HPLC method, the linearity range of SER.DMP was (2.5-25 μg/mL); with LOD (0.051 μg/mL) and LOQ (0.165 μg/mL) while for DMP was (2.5-25 μg/mL); with LOD and LOQ of (0.098 μg/mL) and (0.186 μg/mL), respectively. For TLC method the sensitivity range of SER.DMP was (5-25 μg/mL), LOD was (0.184 μg/spot), while LOQ was (0.202 μg/ spot) whereas for DMP the sensitivity range was (5-25 μg/mL) with LOD of (0.115 μg/ spot) and LOQ of (0.237 μg/ spot), respectively. SER.DMP was found to be equally labile to acidic and alkaline hydrolysis, whereas DMP was sensitive to acidic hydrolysis only. Both drugs were successfully determined in presence of acidic and basic degradants by the two developed methods (stability indicating assay method). Chromatographic separation of the degradation products was carried out on TLC aluminum silica plates 60 F254, as a stationary phase, using methanol: dichloroethane: acetonitrile (60:20:20 v/v), as a mobile phase. The degradation pathway was confirmed using TLC, IR, H-NMR and mass spectroscopy; moreover, the separation power was correlated to the computational results by applying molecular dynamic simulation. The developed methods were validated according to the International Conference on Harmonization (ICH) guidelines demonstrating good accuracy and precision. They were successfully applied for quantitation of SER.DMP and DMP in pure and capsule forms. The results were statistically compared with those obtained by the reported method in terms of accuracy, precision and robustness, and no significant difference was found.
PubMed: 37454105
DOI: 10.1186/s13065-023-00986-3