Comprehensive Evaluation of Bone and Muscle Health

Biochemical indices including complete blood count; levels of serum calcium (Ca), phosphonium (P), and alkaline phosphatase (ALP); liver and kidney functions; and levels of creatine kinase (CK) and its MB isoenzyme (CK-MB), 25-hydroxyvitamin D (25OHD), the intact parathyroid hormone (PTH) bone formation marker serum osteocalcin (OC), and the bone resorption marker serum beta cross-linked C-terminal telopeptide of type 1 collagen (β-CTX) were measured. Measurements of bone mineral density (BMD) of the lumbar spine and left femur neck were performed by dual-energy X-ray absorptiometry (Lunar iDXA, GE Healthcare, Madison, WI, USA). The results were transformed into age- and sex-specific Z-scores using reference data [13 (link)]. X-ray radiographs of thoracic and lumbar vertebrae, hips, knees, and ankles were obtained. The left leg muscle was examined by magnetic resonance imaging (MRI). Electromyography was performed and nerve conduction was analysed.

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Mei Y., Jiang Y., Zhang Z, & Zhang H. (2023). Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation. BMC Medical Genomics, 16, 47.

Publication 2023

Lunar iDXA

25 hydroxyvitamin d Alkaline phosphatase Ankles Bone formation Bone mineral density Bone resorption C terminal telopeptide of type 1 collagen Calcium Complete blood count Creatine kinase Creatine kinase mb Dual energy x ray absorptiometry Electromyography Femur neck Hips Isoenzyme Kidney Knees Liver Lumbar vertebrae Lunar Muscle Nerve conduction Osteocalcin Parathyroid hormone Serum Thoracic radiographs X ray

Corresponding Organization :

Other organizations : Shanghai Sixth People's Hospital, Shanghai Jiao Tong University, Shanghai Clinical Research Center

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Variable analysis

independent variables

Measurements of bone mineral density (BMD) of the lumbar spine and left femur neck were performed by dual-energy X-ray absorptiometry (Lunar iDXA, GE Healthcare, Madison, WI, USA)
X-ray radiographs of thoracic and lumbar vertebrae, hips, knees, and ankles were obtained
The left leg muscle was examined by magnetic resonance imaging (MRI)
Electromyography was performed and nerve conduction was analysed

dependent variables

Complete blood count
Levels of serum calcium (Ca), phosphonium (P), and alkaline phosphatase (ALP)
Liver and kidney functions
Levels of creatine kinase (CK) and its MB isoenzyme (CK-MB)
Levels of 25-hydroxyvitamin D (25OHD), the intact parathyroid hormone (PTH), bone formation marker serum osteocalcin (OC), and the bone resorption marker serum beta cross-linked C-terminal telopeptide of type 1 collagen (β-CTX)

control variables

The results were transformed into age- and sex-specific Z-scores using reference data [13 (link)]

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