PURPOSE: While treating 14 phenylketonuria(PKU) patients, we evaluated bone density, changes in bone age, andbony changes such as spiculation or metaphyseal widening. MATERIALS AND METHODS: A total of 14 PKU patients agedbetween 1 month and 14 years(mean, 6.4 years) were under dietary treatment. Eight and eleven patients underwentradiography of the left hand and wrist and bone densitometry(BMD) of the lumbar spine, respectively. The resultswere reviewed with regard to abnormal bony changes, delayed bone age, and osteopenia. Patients were assigned toeither the early or late treatment group, depending on whether or not dietary therapy was started before 3 monthsof age. Those in whom a blood phenylalanine level of under 10 mg/dl was maintained were assigned to the 'goodcontrol' group; others were classified as 'variable control'. The findings of radiographs of the left hand andlumbar BMD were evaluated in relation to the time of dietary therapy, and adequacy of treatment. RESULTS: Onlumbar BMD, four of 11 patients (36%) showed reduced bone density of more than 1 S.D. None of the 11 who underwentradiography of the left hand showed bony abnormalities such as spiculation or metaphyseal widening. In four of the11, bone age was less than chronological age by at least one year. According to Fisher's exact test there was norelation between delayed bone age , osteoporosis and the time and adequacy of dietary therapy (p >0.05). CONCLUSION: None of the 14 PKU patients who underwent dietary therapy had bony abnormalities such as spiculationor metaphyseal widening. In four of the 11, bone age was at least one year less than chronological age, and onlumbar BMD, osteoporosis was seen. For the evaluation of bone change in PKU patients, plain radiography and BMDare thus complementary.
Bone Density ; Bone Diseases, Metabolic ; Hand ; Humans ; Metabolism ; Osteoporosis ; Phenylalanine ; Phenylketonurias* ; Radiography ; Spine ; Wrist

OBJECTIVETo investigate the possible relationship between Runx2 and the low bone mass of adolescent idiopathic scoliosis(AIS) patients at the osteoblast level.

METHODSTwenty eight AIS patients (mean age 14.9 years, mean Cobb angle 57.3 degrees ) in experimental group, including 2 male and 26 female, underwent posterior instrumentation between March and December 2008. They were divided into two groups. Patients in group A maintained normal bone mineral density (BMD). Patients in group B sustained osteopenia. Normal group, including 8 patients (2 males and 6 females) with a mean age of 15.3 years, were age-matched non-scoliosis adolescents who underwent spinal surgery. BMD of the lumbar spine and proximal femur was measured by using dual energy X-ray absorptiometry in three groups. Small cancellous bone samples were harvested from the iliac crest during the operation. The chipped explants were cultured to obtained the osteoblasts. P2 generation osteoblasts were analyzed to confirm the cell phenotype. Expression of mRNA and protein of Runx2 were detected by using RT-PCR and Western blot in P2 generation osteoblasts from three groups.

RESULTSThe expression of Runx2 of osteoblasts had decreased obviously in group B compared with group A and group C (P < 0.05). However, there was no significant difference between group A and group C (P > 0.05).

CONCLUSIONSThe abnormal expression of Runx2 of osteoblasts may be responsible for the low bone mass in adolescent idiopathic scoliosis patients.

Absorptiometry, Photon ; Adolescent ; Bone Density ; Bone Diseases, Metabolic ; Humans ; Osteoblasts ; metabolism ; Scoliosis ; diagnostic imaging

OBJECTIVE: To investigate the effect of 275 nm and 310 nm ultraviolet irradiation on ovariectomized rats' bone metabolism. METHODS: Twenty four 3-month-old female Sprague-Dawley (SD) rat were randomly divided into control group, sham operated group, 275 nm ultraviolet (UV) irradiation group and 310 nm UV irradiation group. Each group contained 6 rats. The rats in the two irradiation groups were treated with bilateral ovariectomy. The rats in sham operated group received sham operation (They were given the same back incision and a bit of par-ovarian fat were removed). Control group received no disposition. About 24 weeks after operation, all the rats received detailed bone mineral density (BMD) detection again. Detection regions include cervical vertebra, lumbar vertebra, proximal femur, mid femur and distal femur. Next, osteopenia rats in 275 nm irradiation group were UV irradiated 275 nm with fixed illumination intensity (15 μW/cm²) everyday for 16 weeks. The osteopenia rats in 310 nm irradiation group were UV irradiated 310 nm with fixed illumination intensity (15 μW/cm²) everyday for 16 weeks. The backs of the rats were shaved regularly as irradiation area (6 cm×8 cm). After 16-week irradiation, all the rats' BMD of cervical vertebra, lumbar vertebra, proximal femur, mid femur and distal femur were measured. At the end of the trial, all the rats' blood specimens were obtained and serum 25(OH)D, procollagen type Ⅰ N-peptide (PINP) and osteocalcin (OC) were measured. RESULTS: Compared with control group [(238.78±26.74) mg/cm³], the BMD of the whole body were significantly lower in 275 nm [(193.34±13.28) mg/cm³] and 310 nm [(191.19±18.48) mg/cm³] irradiation groups (P=0.002, P=0.001). There were no significant difference between sham operated group [(227.20±14.32) mg/cm³] and control group. After 16-week ultraviolet irradiation, the BMD of the whole body were significantly increased in 275 nm [(193.34±13.28) mg/cm³ vs. (221.68±25.52) mg/cm³, P=0.005] and 310 nm groups [(191.19±18.48) mg/cm³ vs. (267.48±20.54) mg/cm³, P < 0.001] after corresponding irradiation. The BMD of the four body regions (lumbar vertebra, proximal femur, mid femur and distal femur) had significantly increased after irradiation in 275 nm irradiation group. For 310 nm irradiation group, the BMD in cervical vertebra, lumbar vertebra, proximal femur, mid femur and distal femur also had increased significantly after 310 nm ultraviolet irradiation. The concentration of serum 25(OH)D and OC was higher in 275 nm irradiation group than in control group [(46.78±5.59) μg/L vs. (21.32±6.65) μg/L, P=0.002;(2.05±0.53) U/L vs. (1.32±0.07) U/L, P=0.022]. Compared with the control, the concentration of serum 25(OH)D [(58.05±12.74) μg/L], OC [(2.04±0.53) U/L] and PINP [(176.16±24.18) U/L] was significantly higher (P < 0.001, P=0.015, P=0.005) in 310 nm irradiation group. However, there were no significantly difference between sham operated group and the control. CONCLUSION Both 275 nm and 310 nm ultraviolet could improve rats' vitamin D synthesis. Both 275 nm and 310 nm ultraviolet could improve osteopenia rats' bone condition. The irradiation of 310 nm might be more effective on bone condition improvement.
Animals ; Bone Density ; Bone Diseases, Metabolic/metabolism* ; Female ; Femur/metabolism* ; Humans ; Osteocalcin/metabolism* ; Ovariectomy ; Rats ; Rats, Sprague-Dawley

OBJECTIVE: To evaluate the effects of combined estrogen and fluocalcic therapy on the bone metabolism in the surgicalyl menopausal women with osteopenia. METHODS: This prospective randomized clinical trial examined the effects of conjugated equine estrogen and fluocalcic in combination and separately, on BMD in 200 women with low bone mass. Treatment included 0.3 mg conjugated equine estrogen (CEE) (Group I), 0.625 mg CEE (Group II), 0.3 mg CEE plus fluocalcic (Group III), and 0.625 mg CEE plus fluocalcic (Group IV) for 12 months. Biochemical markers of bone turnover were also measured every six months. RESULTS: Urinary deoxypyridinoline in Group III and Group IV decreased signifiantly at 12 months of treatment (p<0.005). Serum osteocalcin and total alkaline phosphatase decreased slightly during the treatment in all groups but statistical significance was not foundsignificantly. CONCLUSION: The combined treatment with conjugated equine estrogen and fluocalcic is more effective in surgically menopausal women with osteopenia by decreasing bone biochemical marker.
Alkaline Phosphatase ; Biomarkers ; Bone Diseases, Metabolic* ; Estrogens* ; Female ; Humans ; Metabolism* ; Osteocalcin ; Prospective Studies

BACKGROUND: There have been bone mass studies for the treatment of osteoporosis, nonetheless, little attention has been paid to the management of osteopenia. This study was to evaluate the effects of estrogen, alendronate and their combination on bone mineral density and bone metabolism in the postmenopausal women with osteopenia. METHODS: A total of 150 healthy regional patients with osteopenia from Busan were enrolled in prospective randomized clinical trial and randomly assigned to receive conjugated equine estrogen (group I), alendronate (group II), or combination of the two (group III). Assessments included BMD of L2-4 spines and femur neck by DEXA and markers of bone turnover including serum osteocalcin, total alkaline phosphatase and urine deoxydyridinoline (Dpd). BMD and markers of bone turnover were re-evaluated at 6 and 12 months after the treatment. RESULTS: BMD of the lumbar spines increased significantly at 12 months after treatment in the three groups (P<0.05). BMD of the femur neck increased at 12 months after treatment in the three groups, but significantly in group III (P<0.05). Serum osteocalcin decreased at 12 months after treatment in the three groups, but only significantly in group III. Urine Dpd decreased at 12 months after treatment in three groups, but significantly in group, II and III (P<0.05). Serum total alkaline phosphatase decreased at 12 months after treatment in only group III (P<0.05). There was more favorable benefit for group III in BMD of the lumbar spines and serum osteocalcin and urine Dpd at 12 months after treatment compared to group, II and III (P<0.05). CONCLUSION: These results indicated a favorable benefit of conjugated equine estrogen, alendronate, or combination of the two in BMD and important markers of bone turnover. The combined treatment with conjugated equine estrogen and alendronate was more effective in postmenopausal women with osteopenia. Long-term studies are required to confirm these results.
Alendronate ; Alkaline Phosphatase ; Bone Density* ; Bone Diseases, Metabolic* ; Busan ; Estrogens ; Female ; Femur Neck ; Humans ; Metabolism* ; Osteocalcin ; Osteoporosis ; Prospective Studies ; Spine

BACKGROUND: Osteoporosis or osteopenia has been reported in patients taking antiepileptic drugs, but the precise pathophysiological mechanisms of these abnormalities are unclear. The aim of this study was to assess the relationship of antiepileptic drugs on bone mass by analyzing bone mineral density (BMD). METHODS: We compared 62 epileptic women on long-term antiepileptic therapy the same number of age and weight matched healthy control subjects. We measured the serum calcium, phosphorus, protein, alkaline phosphatase and osteocalcin for analyzing factors, that have an influence on bone metabolism and BMD. BMD was measured on the lumbar spine by dual-energy X-ray absorptiometry. RESULTS: The serum level of calcium and osteocalcin were not different between the groups. The serum level of phosphorus and protein were significantly lower in the patient group compared to their controls. The serum level of alkaline phosphatase was significantly higher in the patient group than in their controls. The BMD was significantly lower in the patient group than in their controls. There was a significant correlation between the BMD and the duration of therapy in the patient group. CONCLUSION: The long-term use of antiepileptic drugs leads to a decreased BMD, and the degree of bone mineral density was related to the duration of the therapeutic use of antiepileptics.
Absorptiometry, Photon ; Alkaline Phosphatase ; Anticonvulsants* ; Bone Density* ; Bone Diseases, Metabolic ; Calcium ; Epilepsy* ; Female ; Humans ; Metabolism ; Osteocalcin ; Osteoporosis ; Phosphorus ; Spine

Spinal cord injury causes a decrease in bone mass, an osteopenia and an increased risk of fractures. In this condition, previous histomorphologic and biochemical reports have shown an uncoupling between bone formations and resorptions, however the exact sequence of events resulting in bone loss is still not fully understood. Since accurate and sensitive techniques have become available recently to assess bone metabolism, more informations are now available regarding the bone loss in paralysed or immobilized individuals. The purpose of this study is to clarify the changes of biochemical markers and bone densities. Ten complete and 10 incomplete spinal cord injury patients were enrolled for this study. The bone density of femur and lumbar vertebra, and the biochemical markers such as serum osteocalcin and urine deoxypyridinoline were measured. Results were analyzed by Mann-Whitney method and Pearson's correlation of SPSS PC program. Comparing with normal values, in the spinal cord injury groups, the values of serum osteocalcin were elevated (p>0.05), and also the values of urine deoxypyridinoline were significantly elevated(p<0.05). The duration after spinal cord injury and the bone density of femur and lumbar vertebra showed a moderate negative correlation (Pearson's R: +/-0.47, +/-0.43, respectively)(p<0.05). In conclusion, the results of increased values of biochemical markers in bone metabolism support that the bone turn-over rate increases after the spinal cord injury.
Biomarkers ; Bone Density ; Bone Diseases, Metabolic ; Femur ; Humans ; Metabolism* ; Osteocalcin ; Reference Values ; Spinal Cord Injuries ; Spinal Cord* ; Spine

Inherited metabolic disease is rare disorders that show symptoms mainly in pediatric age and early treatment is important for preventing complications of the disease. Recent development in molecular and biochemical techniques help clinicians with proper diagnosis of patients, however, many of the disease still remain lack of effective therapeutic strategies. Better understanding on biochemical and molecular basis of pathogenesis of the disease combined with advanced medical care would provide new sight on the disease that can also improve the quality of life and long-term prognosis of patients. Traditionally, there are several modalities in the treatment of metabolic diseases depend on the biochemical basis of the disease such as diet restriction, removing or blocking the production of toxic metabolites, and stimulating residual enzyme activity. The inherited metabolic disease is not familiar for many clinicians because the diagnosis is troublesome, treatment is complicated and prognosis may not as good as expected in other diseases. Recently, new therapeutic regimens have been introduced that can significantly improve the medical care of patients with metabolic disease. Enzyme replacement therapy has showed promising efficacy for lysosomal storage disease, bone marrow transplantation is effective in some disease and gene therapy has been trying for different diseases. The new trials for treatment of the disease will give us promising insight on the disease and most clinicians should have more interest in medical progress of the metabolic disease.
Bone Marrow Transplantation ; Diagnosis ; Diet ; Enzyme Replacement Therapy ; Genetic Therapy ; Humans ; Lysosomal Storage Diseases ; Metabolic Diseases* ; Metabolism ; Prognosis ; Quality of Life

From among the patients who visited the Dept. of Rehabilitation of West China Hospital for arthalgia in the period from Aug. 2003 to Dec. 2005, we recruited 566 male patients who were over 40 years of age and did not have hyperostosis in the lumbar spine, and whose T scores were each less than--1. Their ages ranged from 40 to 93 years, and the average age was 62.93 +/- 13.50. The dual-energy X-ray absorptiometry from DMS Company in France was used to measure the bone density of the L2-4 anterior-posterior. The basic data about the subjects, containing the age, height, weight, diabetes mellitus, exercise and smoking or not, were recorded. Then the body mass index were calculated. In accordance to the T score, the subjects were separated into two groups: osteopenia group and osteoporosis group. In comparison of the basic data between groups, BMI of osteoporosis group was significantly higher than that of the osteopenia group, but the number of the subjects who exercised was smaller (P < 0.05). Multiple linear regression analysis revealed that in the case BMI increased by 1 kg/m2, BMD significantly decreased by 0.003 g/cm2 (P = 0.002), and the age negatively correlated with BMD (B = -0.001, P = 0.035). "Exercise or not" was positively related to BMD (B = 0.028, P = 0.000). "Smoking or not" and BMD were not significantly correlated (P = 0.837). In conclusion, increase of BMI, or we may say, increase of fat, would decrease the lumbar spine average BMD in the patients of osteoporosis or osteopenia. Some reports have pointed out that only by increasing BMI with increased amount of muscles, but not with increased amount of fat, would be beneficial to the prevention of osteoporosis. So we concluded that the muscle amount in the subjects should be taken into account when we probe into the relation between BMI and BMD.
Adult ; Aged ; Aged, 80 and over ; Body Composition ; Body Mass Index ; Bone Density ; Bone Diseases, Metabolic ; metabolism ; Humans ; Lumbar Vertebrae ; metabolism ; Male ; Middle Aged ; Osteoporosis ; metabolism

OBJECTIVETo investigate the influencing factors and pathogenesis of osteopenia in the patients with hemophilia.

METHODSTwenty-three patients with hemophilia were admitted in the hospital affiliated to North China University of Science and technology from March to August 2015, including 13 severe cases, 10 mild and moderate cases. All the patients accepted the detection of serum I collagen cross-linking N terminal peptide (NTX I), osteoprotegerin (OPG), bone alkaline phosphatase (BALP), basic fibroblast growth factor (bFGF), insulin-like growth factor (IGF) and transforming growth factor-β1 (TGF-β1), the score scale of activity ability was recorded according to the criteria published by the U.S. Center for disease prevention and control in 2002, and 21 patients received the measurement of bone mineral density. According to the World Health Organization (WHO) definition, the clinical significance of bone mineral density (BMD) was assessed by measuring the Z level.

RESULTSZ level>-2 was recorded in 10 cases, Z≤-2 was recorded in 11 cases; the levels of body mass index (BMI) and human bone alkaline phosphatase (BALP) reflecting bone formation in 11 cases (Z≤-2) were lower than there in 10 cases (Z>-2) (P<0.05); the levels of BALP (r=0.489, P<0.05), IGF (r=0.538, P<0.05) and BMI (r=0.572, P<0.01) positively correlated significantly with BMD (P<0.05); the levels of bFGF (r=0.570, P<0.01) and OPG (r=0.505, P<0.05) positively correlated with NTX I, indicating bone destruction (P<0.05); the score of activity ability of severe patients was significantly lower than that of mild and moderate cases (P<0.05), BMD levels of these 2 groups were not statistically different (P>0.05).

CONCLUSIONThe BMD level does not correlate with the clinial grouping of hemophilia, the low body mass index may be a risk factor for bone lose; the mechanism of hemophilia patient's bone lose may be related with the decrease of osteogenic activity, the IGF can prevent bone lose in hemophilia, the bFGF and OPG can promote bone metabolism of the patients with hemophilia.

Alkaline Phosphatase ; metabolism ; Biomarkers ; Bone Density ; Bone Diseases, Metabolic ; pathology ; Bone and Bones ; pathology ; Collagen Type I ; metabolism ; Fibroblast Growth Factor 2 ; metabolism ; Hemophilia A ; pathology ; Humans ; Osteogenesis ; Osteoprotegerin ; metabolism ; Peptides ; metabolism ; Somatomedins ; metabolism ; Transforming Growth Factor beta1 ; metabolism