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G Saggese - One of the best experts on this subject based on the ideXlab platform.
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assessment of bone quality by quantitative ultrasound of proximal phalanges of the hand and fracture rate in children and adolescents with bone and mineral disorders
Pediatric Research, 2003Co-Authors: G I Baroncelli, S Bertelloni, Giovanni Federico, F Sodini, Francesca De Terlizzi, Ruggero Cadossi, G SaggeseAbstract:Bone quality by quantitative ultrasound and fracture rate were assessed in 135 (64 males) children and adolescents aged 3-21 y with bone and mineral disorders such as chronic anticonvulsants or glucocorticoids treatment, Juvenile rheumatoid arthritis, celiac disease, paucity of intrahepatic bile ducts, autoimmune hepatitis, genetic diseases, idiopathic Juvenile Osteoporosis, disuse Osteoporosis, beta-thalassemia major, survivors of acute lymphoblastic leukemia, liver transplantation, calcium deficiency, and nutritional or X-linked hypophosphatemic rickets. Amplitude-dependent speed of sound through the distal end of the first phalangeal diaphysis of the last four fingers of the hand was measured by an ultrasound device. In the majority of patients cortical area to total area ratio by metacarpal radiogrammetry (n = 120) and lumbar bone mineral density (BMD) by dual-energy x-ray absorptiometry (n = 99) were also assessed. In patients with X-linked hypophosphatemic rickets radial BMD by single-photon absorptiometry instead of lumbar BMD was measured. Mean values of amplitude-dependent speed of sound, cortical area to total area ratio, lumbar BMDarea, or lumbar BMD corrected for bone sizes estimated by a mathematical model (BMDvolume), as well as mean values of radial BMD in patients with X-linked hypophosphatemic rickets, expressed as z score, were significantly reduced (p < 0.0001) in comparison with their reference values (-1.7 +/- 1.0, -2.0 +/- 0.9, -3.0 +/- 1.3, -1.9 +/- 1.0, -2.7 +/- 0.7, respectively). A positive relationship was found between amplitude-dependent speed of sound and cortical area to total area ratio (r = 0.90, p < 0.0001), lumbar BMDarea (r = 0.62, p < 0.0001), or lumbar BMDvolume (r = 0.66, p < 0.0001). Fifty-two patients (38.5%) had suffered fractures in the 6 mo preceding the bone measurements, the radial distal metaphysis being the most frequent fracture site (28.8%). Mean values of amplitude-dependent speed of sound, cortical area to total area ratio, lumbar BMDarea, or lumbar BMDvolume, expressed as z score, of fractured patients were significantly lower (p < 0.0001) than those of fracture-free patients (-2.2 +/- 1.0 and -1.4 +/- 0.8, -2.6 +/- 0.9 and -1.7 +/- 0.7, -3.5 +/- 1.2 and -2.5 +/- 1.0, -2.5 +/- 1.0 and -1.3 +/- 0.7, respectively). Phalangeal quantitative ultrasound may be a useful method to assess bone quality and fracture risk in children and adolescents with bone and mineral disorders.
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assessment of bone quality by quantitative ultrasound of proximal phalanges of the hand and fracture rate in children and adolescents with bone and mineral disorders
Pediatric Research, 2003Co-Authors: G I Baroncelli, S Bertelloni, Giovanni Federico, F Sodini, Francesca De Terlizzi, Ruggero Cadossi, G SaggeseAbstract:Bone quality by quantitative ultrasound and fracture rate were assessed in 135 (64 males) children and adolescents aged 3-21 y with bone and mineral disorders such as chronic anticonvulsants or glucocorticoids treatment, Juvenile rheumatoid arthritis, celiac disease, paucity of intrahepatic bile ducts, autoimmune hepatitis, genetic diseases, idiopathic Juvenile Osteoporosis, disuse Osteoporosis, β-thalassemia major, survivors of acute lymphoblastic leukemia, liver transplantation, calcium deficiency, and nutritional or X-linked hypophosphatemic rickets. Amplitude-dependent speed of sound through the distal end of the first phalangeal diaphysis of the last four fingers of the hand was measured by an ultrasound device. In the majority of patients cortical area to total area ratio by metacarpal radiogrammetry (n=120) and lumbar bone mineral density (BMD) by dual-energy x-ray absorptiometry (n=99) were also assessed. In patients with X-linked hypophosphatemic rickets radial BMD by single-photon absorptiometry instead of lumbar BMD was measured. Mean values of amplitude-dependent speed of sound, cortical area to total area ratio, lumbar BMDarea, or lumbar BMD corrected for bone sizes estimated by a mathematical model (BMDvolume), as well as mean values of radial BMD in patients with X-linked hypophosphatemic rickets, expressed as z score, were significantly reduced (p < 0.0001) in comparison with their reference values (−1.7 ± 1.0, −2.0 ± 0.9, −3.0 ± 1.3, −1.9 ± 1.0, −2.7 ± 0.7, respectively). A positive relationship was found between amplitudedependent speed of sound and cortical area to total area ratio (r = 0.90, p < 0.0001), lumbar BMDarea (r = 0.62, p < 0.0001), or lumbar BMDvolume (r = 0.66, p < 0.0001). Fifty-two patients (38.5%) had suffered fractures in the 6 mo preceding the bone measurements, the radial distal metaphysis being the most frequent fracture site (28.8%). Mean values of amplitude-dependent speed of sound, cortical area to total area ratio, lumbar BMDarea, or lumbar BMDvolume, expressed as z score, of fractured patients were significantly lower (p < 0.0001) than those of fracture-free patients (−2.2 ± 1.0 and −1.4 ± 0.8, −2.6 ± 0.9 and −1.7 ± 0.7, −3.5 ± 1.2 and −2.5 ± 1.0, −2.5 ± 1.0 and −1.3 ± 0.7, respectively). Phalangeal quantitative ultrasound may be a useful method to assess bone quality and fracture risk in children and adolescents with bone and mineral disorders.
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idiopathic Juvenile Osteoporosis evidence of normal osteoblast function by 1 25 dihydroxyvitamin d3 stimulation test
Calcified Tissue International, 1992Co-Authors: S Bertelloni, G I Baroncelli, G Di Nero, G SaggeseAbstract:Idiopathic Juvenile Osteoporosis (IJO) is a rare form of bone demineralization that occurs during childhood. The mechanism of bone loss is unclear. Some bone hystomorphometric studies have found osteoblast failure and decreased bone formation in the affected patients whereas others have reported increased bone resorption. To elucidate this issue, we studied osteoblast function in six patients with IJO (five males, one female; aged 2.3–14.6 years) and five healthy sex- and age-matched subjects (four males, one female; aged 2.0–15.1 years) measuring serum values of osteocalcin under basal condition and during an osteoblast stimulation test performed by oral 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] administration (1.8 μg/1.73 m2/daily). After a baseline day (day 0), all the subjects (patients and controls) received 1,25(OH)2D3 in four divided doses for 6 days (days 1–6). Fasting blood samples were obtained every morning (0800 h) for the determination of serum osteocalcin. Baseline osteocalcin levels were not significantly different between IJO and controls (13.58±6.05 ng/ml versus 16.04±5.09 ng/ml, respectively) even if two patients had low osteocalcin values. During 1,25(OH)2D3 administration, serum osteocalcin values significantly increased (P<0.001) from baseline in both children with IJO and controls, reaching peak values not significantly different in the two groups. Our results do not support the hypothesis that defective osteoblast function is the primary factor of bone demineralization in IJO.
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mineral metabolism and calcitriol therapy in idiopathic Juvenile Osteoporosis
JAMA Pediatrics, 1991Co-Authors: G Saggese, Giuseppe Perri, S Bertelloni, G I Baroncelli, A CalderazziAbstract:• Idiopathic Juvenile Osteoporosis is a rare cause of Osteoporosis during childhood. We examined four children (three boys and one girl, ranging in age from 2.3 to 12.6 years) with idiopathic Juvenile Osteoporosis. All of these patients had normal serum calcium, ionized calcium, phosphate, magnesium, 25-hydroxyvitamin D, intact parathyroid hormone, and total and extractable calcitonin levels. 1,25-Dihydroxyvitamin D values were low in three patients and slightly decreased in one. Three children were treated with calcitriol (1,25 - dihydroxycholecalciferol) (0.50 μg/d in two and 0.25 μg/d in the other). The fourth patient was not treated because of parental refusal. Therapy reduced the fracture rate. Follow-up at 6 and 12 months showed a significant increase in bone mineralization, which reached normal values in two children after 12 months of treatment. No side effects of calcitriol therapy were observed. The untreated patient did not show an improvement of bone mineralization in the same time. (AJDC. 1991;145:457-462)
G I Baroncelli - One of the best experts on this subject based on the ideXlab platform.
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pamidronate treatment stimulates the onset of recovery phase reducing fracture rate and skeletal deformities in patients with idiopathic Juvenile Osteoporosis comparison with untreated patients
Journal of Bone and Mineral Metabolism, 2013Co-Authors: G I Baroncelli, S Bertelloni, F Vierucci, Paola Erba, E Zampollo, Maria Rita GiucaAbstract:Although spontaneous remission occurs in patients with idiopathic Juvenile Osteoporosis (IJO), permanent bone deformities may occur. The effects of long-term pamidronate treatment on clinical findings, bone mineral status, and fracture rate were evaluated. Nine patients (age 9.8 ± 1.1 years, 7 males) with IJO were randomized to intravenous pamidronate (0.8 ± 0.1 mg/kg per day for 3 days; cycles per year 2.0 ± 0.1; duration 7.3 ± 1.1 years; n = 5) or no treatment (n = 4). Fracture rate, phalangeal quantitative ultrasound, and lumbar bone mineral density (BMD) by dual energy X-ray absorptiometry at entry and during follow-up (range 6.3–9.4 years) were assessed. Bone pain improved in treated patients. Difficulty walking continued for 3–5 years in untreated patients, and vertebral collapses occurred in three of them. During follow-up, phalangeal amplitude-dependent speed of sound (AD-SoS), bone transmission time (BTT), and lumbar BMDarea and BMDvolume progressively increased in treated patients (P < 0.05–P < 0.0001). In untreated patients AD-SoS and BTT decreased during the first 2–4 years of follow-up (P < 0.05–P < 0.01); lumbar BMDarea increased after 6 years (P < 0.001) whereas BTT and lumbar BMDvolume increased after 7 years of follow-up (P < 0.05 and P < 0.001, respectively). At the end of follow-up, AD-SoS, BTT, lumbar BMDarea, and BMDvolume Z-scores were lower in untreated patients than in treated patients (−2.2 ± 0.3 and −0.5 ± 0.2; −1.9 ± 0.2 and −0.6 ± 0.2; −2.3 ± 0.3 and −0.7 ± 0.3; −2.4 ± 0.2 and −0.7 ± 0.3, P < 0.0001, respectively). Fracture rate was higher in untreated patients than in treated patients during the first 3 years of follow-up (P < 0.02). Our study showed that spontaneous recovery of bone mineral status is unsatisfactory in patients with IJO. Pamidronate treatment stimulated the onset of recovery phase reducing fracture rate and permanent disabilities without evidence of side-effects.
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assessment of bone quality by quantitative ultrasound of proximal phalanges of the hand and fracture rate in children and adolescents with bone and mineral disorders
Pediatric Research, 2003Co-Authors: G I Baroncelli, S Bertelloni, Giovanni Federico, F Sodini, Francesca De Terlizzi, Ruggero Cadossi, G SaggeseAbstract:Bone quality by quantitative ultrasound and fracture rate were assessed in 135 (64 males) children and adolescents aged 3-21 y with bone and mineral disorders such as chronic anticonvulsants or glucocorticoids treatment, Juvenile rheumatoid arthritis, celiac disease, paucity of intrahepatic bile ducts, autoimmune hepatitis, genetic diseases, idiopathic Juvenile Osteoporosis, disuse Osteoporosis, beta-thalassemia major, survivors of acute lymphoblastic leukemia, liver transplantation, calcium deficiency, and nutritional or X-linked hypophosphatemic rickets. Amplitude-dependent speed of sound through the distal end of the first phalangeal diaphysis of the last four fingers of the hand was measured by an ultrasound device. In the majority of patients cortical area to total area ratio by metacarpal radiogrammetry (n = 120) and lumbar bone mineral density (BMD) by dual-energy x-ray absorptiometry (n = 99) were also assessed. In patients with X-linked hypophosphatemic rickets radial BMD by single-photon absorptiometry instead of lumbar BMD was measured. Mean values of amplitude-dependent speed of sound, cortical area to total area ratio, lumbar BMDarea, or lumbar BMD corrected for bone sizes estimated by a mathematical model (BMDvolume), as well as mean values of radial BMD in patients with X-linked hypophosphatemic rickets, expressed as z score, were significantly reduced (p < 0.0001) in comparison with their reference values (-1.7 +/- 1.0, -2.0 +/- 0.9, -3.0 +/- 1.3, -1.9 +/- 1.0, -2.7 +/- 0.7, respectively). A positive relationship was found between amplitude-dependent speed of sound and cortical area to total area ratio (r = 0.90, p < 0.0001), lumbar BMDarea (r = 0.62, p < 0.0001), or lumbar BMDvolume (r = 0.66, p < 0.0001). Fifty-two patients (38.5%) had suffered fractures in the 6 mo preceding the bone measurements, the radial distal metaphysis being the most frequent fracture site (28.8%). Mean values of amplitude-dependent speed of sound, cortical area to total area ratio, lumbar BMDarea, or lumbar BMDvolume, expressed as z score, of fractured patients were significantly lower (p < 0.0001) than those of fracture-free patients (-2.2 +/- 1.0 and -1.4 +/- 0.8, -2.6 +/- 0.9 and -1.7 +/- 0.7, -3.5 +/- 1.2 and -2.5 +/- 1.0, -2.5 +/- 1.0 and -1.3 +/- 0.7, respectively). Phalangeal quantitative ultrasound may be a useful method to assess bone quality and fracture risk in children and adolescents with bone and mineral disorders.
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assessment of bone quality by quantitative ultrasound of proximal phalanges of the hand and fracture rate in children and adolescents with bone and mineral disorders
Pediatric Research, 2003Co-Authors: G I Baroncelli, S Bertelloni, Giovanni Federico, F Sodini, Francesca De Terlizzi, Ruggero Cadossi, G SaggeseAbstract:Bone quality by quantitative ultrasound and fracture rate were assessed in 135 (64 males) children and adolescents aged 3-21 y with bone and mineral disorders such as chronic anticonvulsants or glucocorticoids treatment, Juvenile rheumatoid arthritis, celiac disease, paucity of intrahepatic bile ducts, autoimmune hepatitis, genetic diseases, idiopathic Juvenile Osteoporosis, disuse Osteoporosis, β-thalassemia major, survivors of acute lymphoblastic leukemia, liver transplantation, calcium deficiency, and nutritional or X-linked hypophosphatemic rickets. Amplitude-dependent speed of sound through the distal end of the first phalangeal diaphysis of the last four fingers of the hand was measured by an ultrasound device. In the majority of patients cortical area to total area ratio by metacarpal radiogrammetry (n=120) and lumbar bone mineral density (BMD) by dual-energy x-ray absorptiometry (n=99) were also assessed. In patients with X-linked hypophosphatemic rickets radial BMD by single-photon absorptiometry instead of lumbar BMD was measured. Mean values of amplitude-dependent speed of sound, cortical area to total area ratio, lumbar BMDarea, or lumbar BMD corrected for bone sizes estimated by a mathematical model (BMDvolume), as well as mean values of radial BMD in patients with X-linked hypophosphatemic rickets, expressed as z score, were significantly reduced (p < 0.0001) in comparison with their reference values (−1.7 ± 1.0, −2.0 ± 0.9, −3.0 ± 1.3, −1.9 ± 1.0, −2.7 ± 0.7, respectively). A positive relationship was found between amplitudedependent speed of sound and cortical area to total area ratio (r = 0.90, p < 0.0001), lumbar BMDarea (r = 0.62, p < 0.0001), or lumbar BMDvolume (r = 0.66, p < 0.0001). Fifty-two patients (38.5%) had suffered fractures in the 6 mo preceding the bone measurements, the radial distal metaphysis being the most frequent fracture site (28.8%). Mean values of amplitude-dependent speed of sound, cortical area to total area ratio, lumbar BMDarea, or lumbar BMDvolume, expressed as z score, of fractured patients were significantly lower (p < 0.0001) than those of fracture-free patients (−2.2 ± 1.0 and −1.4 ± 0.8, −2.6 ± 0.9 and −1.7 ± 0.7, −3.5 ± 1.2 and −2.5 ± 1.0, −2.5 ± 1.0 and −1.3 ± 0.7, respectively). Phalangeal quantitative ultrasound may be a useful method to assess bone quality and fracture risk in children and adolescents with bone and mineral disorders.
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idiopathic Juvenile Osteoporosis evidence of normal osteoblast function by 1 25 dihydroxyvitamin d3 stimulation test
Calcified Tissue International, 1992Co-Authors: S Bertelloni, G I Baroncelli, G Di Nero, G SaggeseAbstract:Idiopathic Juvenile Osteoporosis (IJO) is a rare form of bone demineralization that occurs during childhood. The mechanism of bone loss is unclear. Some bone hystomorphometric studies have found osteoblast failure and decreased bone formation in the affected patients whereas others have reported increased bone resorption. To elucidate this issue, we studied osteoblast function in six patients with IJO (five males, one female; aged 2.3–14.6 years) and five healthy sex- and age-matched subjects (four males, one female; aged 2.0–15.1 years) measuring serum values of osteocalcin under basal condition and during an osteoblast stimulation test performed by oral 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] administration (1.8 μg/1.73 m2/daily). After a baseline day (day 0), all the subjects (patients and controls) received 1,25(OH)2D3 in four divided doses for 6 days (days 1–6). Fasting blood samples were obtained every morning (0800 h) for the determination of serum osteocalcin. Baseline osteocalcin levels were not significantly different between IJO and controls (13.58±6.05 ng/ml versus 16.04±5.09 ng/ml, respectively) even if two patients had low osteocalcin values. During 1,25(OH)2D3 administration, serum osteocalcin values significantly increased (P<0.001) from baseline in both children with IJO and controls, reaching peak values not significantly different in the two groups. Our results do not support the hypothesis that defective osteoblast function is the primary factor of bone demineralization in IJO.
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mineral metabolism and calcitriol therapy in idiopathic Juvenile Osteoporosis
JAMA Pediatrics, 1991Co-Authors: G Saggese, Giuseppe Perri, S Bertelloni, G I Baroncelli, A CalderazziAbstract:• Idiopathic Juvenile Osteoporosis is a rare cause of Osteoporosis during childhood. We examined four children (three boys and one girl, ranging in age from 2.3 to 12.6 years) with idiopathic Juvenile Osteoporosis. All of these patients had normal serum calcium, ionized calcium, phosphate, magnesium, 25-hydroxyvitamin D, intact parathyroid hormone, and total and extractable calcitonin levels. 1,25-Dihydroxyvitamin D values were low in three patients and slightly decreased in one. Three children were treated with calcitriol (1,25 - dihydroxycholecalciferol) (0.50 μg/d in two and 0.25 μg/d in the other). The fourth patient was not treated because of parental refusal. Therapy reduced the fracture rate. Follow-up at 6 and 12 months showed a significant increase in bone mineralization, which reached normal values in two children after 12 months of treatment. No side effects of calcitriol therapy were observed. The untreated patient did not show an improvement of bone mineralization in the same time. (AJDC. 1991;145:457-462)
S Bertelloni - One of the best experts on this subject based on the ideXlab platform.
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pamidronate treatment stimulates the onset of recovery phase reducing fracture rate and skeletal deformities in patients with idiopathic Juvenile Osteoporosis comparison with untreated patients
Journal of Bone and Mineral Metabolism, 2013Co-Authors: G I Baroncelli, S Bertelloni, F Vierucci, Paola Erba, E Zampollo, Maria Rita GiucaAbstract:Although spontaneous remission occurs in patients with idiopathic Juvenile Osteoporosis (IJO), permanent bone deformities may occur. The effects of long-term pamidronate treatment on clinical findings, bone mineral status, and fracture rate were evaluated. Nine patients (age 9.8 ± 1.1 years, 7 males) with IJO were randomized to intravenous pamidronate (0.8 ± 0.1 mg/kg per day for 3 days; cycles per year 2.0 ± 0.1; duration 7.3 ± 1.1 years; n = 5) or no treatment (n = 4). Fracture rate, phalangeal quantitative ultrasound, and lumbar bone mineral density (BMD) by dual energy X-ray absorptiometry at entry and during follow-up (range 6.3–9.4 years) were assessed. Bone pain improved in treated patients. Difficulty walking continued for 3–5 years in untreated patients, and vertebral collapses occurred in three of them. During follow-up, phalangeal amplitude-dependent speed of sound (AD-SoS), bone transmission time (BTT), and lumbar BMDarea and BMDvolume progressively increased in treated patients (P < 0.05–P < 0.0001). In untreated patients AD-SoS and BTT decreased during the first 2–4 years of follow-up (P < 0.05–P < 0.01); lumbar BMDarea increased after 6 years (P < 0.001) whereas BTT and lumbar BMDvolume increased after 7 years of follow-up (P < 0.05 and P < 0.001, respectively). At the end of follow-up, AD-SoS, BTT, lumbar BMDarea, and BMDvolume Z-scores were lower in untreated patients than in treated patients (−2.2 ± 0.3 and −0.5 ± 0.2; −1.9 ± 0.2 and −0.6 ± 0.2; −2.3 ± 0.3 and −0.7 ± 0.3; −2.4 ± 0.2 and −0.7 ± 0.3, P < 0.0001, respectively). Fracture rate was higher in untreated patients than in treated patients during the first 3 years of follow-up (P < 0.02). Our study showed that spontaneous recovery of bone mineral status is unsatisfactory in patients with IJO. Pamidronate treatment stimulated the onset of recovery phase reducing fracture rate and permanent disabilities without evidence of side-effects.
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assessment of bone quality by quantitative ultrasound of proximal phalanges of the hand and fracture rate in children and adolescents with bone and mineral disorders
Pediatric Research, 2003Co-Authors: G I Baroncelli, S Bertelloni, Giovanni Federico, F Sodini, Francesca De Terlizzi, Ruggero Cadossi, G SaggeseAbstract:Bone quality by quantitative ultrasound and fracture rate were assessed in 135 (64 males) children and adolescents aged 3-21 y with bone and mineral disorders such as chronic anticonvulsants or glucocorticoids treatment, Juvenile rheumatoid arthritis, celiac disease, paucity of intrahepatic bile ducts, autoimmune hepatitis, genetic diseases, idiopathic Juvenile Osteoporosis, disuse Osteoporosis, beta-thalassemia major, survivors of acute lymphoblastic leukemia, liver transplantation, calcium deficiency, and nutritional or X-linked hypophosphatemic rickets. Amplitude-dependent speed of sound through the distal end of the first phalangeal diaphysis of the last four fingers of the hand was measured by an ultrasound device. In the majority of patients cortical area to total area ratio by metacarpal radiogrammetry (n = 120) and lumbar bone mineral density (BMD) by dual-energy x-ray absorptiometry (n = 99) were also assessed. In patients with X-linked hypophosphatemic rickets radial BMD by single-photon absorptiometry instead of lumbar BMD was measured. Mean values of amplitude-dependent speed of sound, cortical area to total area ratio, lumbar BMDarea, or lumbar BMD corrected for bone sizes estimated by a mathematical model (BMDvolume), as well as mean values of radial BMD in patients with X-linked hypophosphatemic rickets, expressed as z score, were significantly reduced (p < 0.0001) in comparison with their reference values (-1.7 +/- 1.0, -2.0 +/- 0.9, -3.0 +/- 1.3, -1.9 +/- 1.0, -2.7 +/- 0.7, respectively). A positive relationship was found between amplitude-dependent speed of sound and cortical area to total area ratio (r = 0.90, p < 0.0001), lumbar BMDarea (r = 0.62, p < 0.0001), or lumbar BMDvolume (r = 0.66, p < 0.0001). Fifty-two patients (38.5%) had suffered fractures in the 6 mo preceding the bone measurements, the radial distal metaphysis being the most frequent fracture site (28.8%). Mean values of amplitude-dependent speed of sound, cortical area to total area ratio, lumbar BMDarea, or lumbar BMDvolume, expressed as z score, of fractured patients were significantly lower (p < 0.0001) than those of fracture-free patients (-2.2 +/- 1.0 and -1.4 +/- 0.8, -2.6 +/- 0.9 and -1.7 +/- 0.7, -3.5 +/- 1.2 and -2.5 +/- 1.0, -2.5 +/- 1.0 and -1.3 +/- 0.7, respectively). Phalangeal quantitative ultrasound may be a useful method to assess bone quality and fracture risk in children and adolescents with bone and mineral disorders.
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assessment of bone quality by quantitative ultrasound of proximal phalanges of the hand and fracture rate in children and adolescents with bone and mineral disorders
Pediatric Research, 2003Co-Authors: G I Baroncelli, S Bertelloni, Giovanni Federico, F Sodini, Francesca De Terlizzi, Ruggero Cadossi, G SaggeseAbstract:Bone quality by quantitative ultrasound and fracture rate were assessed in 135 (64 males) children and adolescents aged 3-21 y with bone and mineral disorders such as chronic anticonvulsants or glucocorticoids treatment, Juvenile rheumatoid arthritis, celiac disease, paucity of intrahepatic bile ducts, autoimmune hepatitis, genetic diseases, idiopathic Juvenile Osteoporosis, disuse Osteoporosis, β-thalassemia major, survivors of acute lymphoblastic leukemia, liver transplantation, calcium deficiency, and nutritional or X-linked hypophosphatemic rickets. Amplitude-dependent speed of sound through the distal end of the first phalangeal diaphysis of the last four fingers of the hand was measured by an ultrasound device. In the majority of patients cortical area to total area ratio by metacarpal radiogrammetry (n=120) and lumbar bone mineral density (BMD) by dual-energy x-ray absorptiometry (n=99) were also assessed. In patients with X-linked hypophosphatemic rickets radial BMD by single-photon absorptiometry instead of lumbar BMD was measured. Mean values of amplitude-dependent speed of sound, cortical area to total area ratio, lumbar BMDarea, or lumbar BMD corrected for bone sizes estimated by a mathematical model (BMDvolume), as well as mean values of radial BMD in patients with X-linked hypophosphatemic rickets, expressed as z score, were significantly reduced (p < 0.0001) in comparison with their reference values (−1.7 ± 1.0, −2.0 ± 0.9, −3.0 ± 1.3, −1.9 ± 1.0, −2.7 ± 0.7, respectively). A positive relationship was found between amplitudedependent speed of sound and cortical area to total area ratio (r = 0.90, p < 0.0001), lumbar BMDarea (r = 0.62, p < 0.0001), or lumbar BMDvolume (r = 0.66, p < 0.0001). Fifty-two patients (38.5%) had suffered fractures in the 6 mo preceding the bone measurements, the radial distal metaphysis being the most frequent fracture site (28.8%). Mean values of amplitude-dependent speed of sound, cortical area to total area ratio, lumbar BMDarea, or lumbar BMDvolume, expressed as z score, of fractured patients were significantly lower (p < 0.0001) than those of fracture-free patients (−2.2 ± 1.0 and −1.4 ± 0.8, −2.6 ± 0.9 and −1.7 ± 0.7, −3.5 ± 1.2 and −2.5 ± 1.0, −2.5 ± 1.0 and −1.3 ± 0.7, respectively). Phalangeal quantitative ultrasound may be a useful method to assess bone quality and fracture risk in children and adolescents with bone and mineral disorders.
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idiopathic Juvenile Osteoporosis evidence of normal osteoblast function by 1 25 dihydroxyvitamin d3 stimulation test
Calcified Tissue International, 1992Co-Authors: S Bertelloni, G I Baroncelli, G Di Nero, G SaggeseAbstract:Idiopathic Juvenile Osteoporosis (IJO) is a rare form of bone demineralization that occurs during childhood. The mechanism of bone loss is unclear. Some bone hystomorphometric studies have found osteoblast failure and decreased bone formation in the affected patients whereas others have reported increased bone resorption. To elucidate this issue, we studied osteoblast function in six patients with IJO (five males, one female; aged 2.3–14.6 years) and five healthy sex- and age-matched subjects (four males, one female; aged 2.0–15.1 years) measuring serum values of osteocalcin under basal condition and during an osteoblast stimulation test performed by oral 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] administration (1.8 μg/1.73 m2/daily). After a baseline day (day 0), all the subjects (patients and controls) received 1,25(OH)2D3 in four divided doses for 6 days (days 1–6). Fasting blood samples were obtained every morning (0800 h) for the determination of serum osteocalcin. Baseline osteocalcin levels were not significantly different between IJO and controls (13.58±6.05 ng/ml versus 16.04±5.09 ng/ml, respectively) even if two patients had low osteocalcin values. During 1,25(OH)2D3 administration, serum osteocalcin values significantly increased (P<0.001) from baseline in both children with IJO and controls, reaching peak values not significantly different in the two groups. Our results do not support the hypothesis that defective osteoblast function is the primary factor of bone demineralization in IJO.
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mineral metabolism and calcitriol therapy in idiopathic Juvenile Osteoporosis
JAMA Pediatrics, 1991Co-Authors: G Saggese, Giuseppe Perri, S Bertelloni, G I Baroncelli, A CalderazziAbstract:• Idiopathic Juvenile Osteoporosis is a rare cause of Osteoporosis during childhood. We examined four children (three boys and one girl, ranging in age from 2.3 to 12.6 years) with idiopathic Juvenile Osteoporosis. All of these patients had normal serum calcium, ionized calcium, phosphate, magnesium, 25-hydroxyvitamin D, intact parathyroid hormone, and total and extractable calcitonin levels. 1,25-Dihydroxyvitamin D values were low in three patients and slightly decreased in one. Three children were treated with calcitriol (1,25 - dihydroxycholecalciferol) (0.50 μg/d in two and 0.25 μg/d in the other). The fourth patient was not treated because of parental refusal. Therapy reduced the fracture rate. Follow-up at 6 and 12 months showed a significant increase in bone mineralization, which reached normal values in two children after 12 months of treatment. No side effects of calcitriol therapy were observed. The untreated patient did not show an improvement of bone mineralization in the same time. (AJDC. 1991;145:457-462)
Joan C Marini - One of the best experts on this subject based on the ideXlab platform.
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extension of phenotype associated with structural mutations in type i collagen siblings with Juvenile Osteoporosis have an α2 i gly436 arg substitution
Journal of Bone and Mineral Research, 1999Co-Authors: Paul A Dawson, Thaddeus E Kelly, Joan C MariniAbstract:Mutations in the type I collagen genes have been identified as the cause of all four types of osteogenesis imperfecta (OI). We now report a mutation that extends the phenotype associated with structural abnormalities in type I collagen. Two siblings presented with a history of back pain and were diagnosed with Juvenile Osteoporosis, based on clinical and radiological examination. Radiographs showed decreased lumbar bone density and multiple compression fractures throughout the thoracic and lumbar spines of both patients. One child has moderate short stature and mild neurosensory hearing loss. However, neither child has incurred the long bone fractures characteristic of OI. Protein studies demonstrated electrophoretically abnormal type I collagen in samples from both children. Enzymatic cleavage of RNA:RNA hybrids identified a mismatch in type I collagen α2 (COL1A2) mRNA. DNA sequencing of COL1A2 cDNA subclones defined the mismatch as a single-base mutation (1715G → A) in both children. This mutation predicts the substitution of arginine for glycine at position 436 (G436R) in the helical domain of the α2(I) chain. Analysis of genomic DNA identified the mutation in the asymptomatic father, who is presumably a germ-line mosaic carrier. The presence of the same heterozygous mutation in two siblings strongly suggests that the probands display the full phenotype. Taken together, the clinical, biochemical, and molecular findings of this study extend the phenotype associated with type I collagen mutations to cases with only spine manifestations and variable short stature into adolescence.
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extension of phenotype associated with structural mutations in type i collagen siblings with Juvenile Osteoporosis have anα2 i gly436 arg substitution 597
Pediatric Research, 1997Co-Authors: Paul A Dawson, Thaddeus E Kelly, Joan C MariniAbstract:Over 150 structural defects in the helical region of either of the two type I collagen chains have been described. These defects are associated with the full clinical range of osteogenesis imperfecta (OI), from lethal to mild. We report here the biochemical and molecular characteristics of type I collagen from two siblings referred for assessment of Juvenile Osteoporosis.
R Smith - One of the best experts on this subject based on the ideXlab platform.
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type i collagen biosynthesis by skin fibroblasts from patients with idiopathic Juvenile Osteoporosis
Clinical Science, 1995Co-Authors: Andrew E Pocock, Martin J O Francis, R SmithAbstract:1.Skin fibroblast lines were cultured from nine patients who had the features of idiopathic Juvenile Osteoporosis, six relatives, five unrelated control subjects and three unrelated patients with osteogenesis imperfecta type I. Some patients with idiopathic Juvenile Osteoporosis were adults whose previous Osteoporosis was in remission. Two patients with idiopathic Juvenile Osteoporosis were siblings and one patient with idiopathic Juvenile Osteoporosis had a daughter with severe osteogenesis imperfecta (type III). 2. The ratio of type III to type I collagen, synthesized by fibroblasts, was increased in two of the patients with osteogenesis imperfecta type I and in the daughter with osteogenesis imperfecta type III, but was normal in all the other patients with idiopathic Juvenile Osteoporosis and the other relatives. 3. Radiolabelled collagen was digested by cyanogen bromide and separated on SDS-PAGE. Unreduced collagen peptides migrated normally, except those from both the two siblings with idiopathic Juvenile Osteoporosis. In these two lines, abnormal migration suggested the presence of collagen I mutations. 4. The secretion of synthesized collagen by these two idiopathic Juvenile Osteoporosis lines and two others was reduced to only 43-45% as compared with a line from a 13-year-old control subject, which was defined as 100%. The three osteogenesis imperfecta type I lines secreted 18-37%, the other five idiopathic Juvenile Osteoporosis lines secreted 57-75%, the relatives (including the daughter with severe osteogenesis imperfecta) secreted 49-115% and the controls secreted 69-102%. 5. We conclude that qualitative abnormalities of type I collagen associated with a reduction in total secreted collagen synthesis may occur in a minority of patients with idiopathic Juvenile Osteoporosis ; these patients could represent a subset of patients with this disorder.
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idiopathic Juvenile Osteoporosis experience of twenty one patients
Rheumatology, 1995Co-Authors: R SmithAbstract:The features and outcome of 21 children (12 boys, nine girls) with idopathic Juvenile Osteoporosis (IJO) followed for up to 23 yr are described. The mean age of onset was 7 yr (range 1-13 yr) with no sex difference; the main presenting symptoms were long bone fractures, pain in the back and difficulty in walking. Typically, radiographs demonstrated compression of the vertebrae and metaphyses of the long bones; bone histology sometimes showed an excess of osteocytes associated with woven bone; routine biochemistry was normal for age; and with three exceptions no abnormalities of extracted dermal collagen or collagen synthesized by fibroblasts were detected. Where circulating vitamin D metabolites were measured they were within the normal range; and hip and spine bone mineral density (measured by DXA) was strikingly low. Five patients are still growing and two are currently untraceable. Of the remaining 14 who are now adults, 11 have substantially or completely recovered and three are disabled. Since spontaneous recovery occurs it remains impossible to assess the many forms of treatment given.
