Osteogenesis Imperfecta: Bone Turnover, Bone Density, and Ultrasound Parameters

1999 ◽  
Vol 65 (2) ◽  
pp. 129-132 ◽  
Author(s):  
C. Cepollaro ◽  
S. Gonnelli ◽  
C. Pondrelli ◽  
A. Montagnani ◽  
S. Martini ◽  
...  
2012 ◽  
Vol 4 (3) ◽  
pp. 29 ◽  
Author(s):  
Ingmar Ipach ◽  
Torsten Kluba ◽  
Petra Wolf ◽  
Bertram Pontz ◽  
Falk Mittag

Osteogenesis imperfecta (OI) is characterized by different signs including increased bone fragility, short stature, blue sclera, abnormal tooth growth and often secondary immobility. No curative therapy has been found for this rare disease up to now, and different pharmacological substances have been tried as treatment for severe forms of OI. Promising results were seen with intravenous bisphosphonates in the treatment of patients with OI. The aim of present study was to show the effect of intravenous ibandronate therapy on bone density and bone metabolism markers. We analyzed the data of 27 patients with the diagnosis of OI who were treated off-label with intravenous ibandronate. Ibandronate was administered by intravenous infusion every three months at a dosage of 0.3-2 mg. Bone turnover markers and bone density were measured before starting therapy and every three months during treatment. Bone density was measured by using an ultrasound imaging system providing an accurate image of the calcaneus and by evaluating broadband ultrasound attenuation (BUA). Twenty-seven patients were treated with intravenous iban- dronate during the observation period. 18 were female. The mean age of all patients was 23.9 years ± 19.6 (range 4-63). Seventeen patients were categorized to have OI Type I, 5 patients to have OI Type III and 5 patients to have OI Type IV. There was a statistically significant decrease in total alkaline phosphatase (P<0.0001). We detected also a statistically significant decrease in the ratio urinary deoxypyridinoline/urinary creatinine (P=0.0048) and the ratio urinary pyridinoline/urinary creatinine (P<0.0001) respectively. There was also a statistically significant increase in serum magnesium (P=0.034) and BUA (P=0.0071). No statistically significant changes were seen for total serum calcium (P=0.16), the ratio of urine calcium/urine creatinine (P=0.29), alkaline phosphatase (isoform bone) (P=0.3), procollagen-I-peptide (P=0.5), osteocalcin (P=0.9), serum phosphatase (P=0.71), parathormone (P=0.11) and the ratio urine phosphatase/urine creatinine (P=0.58) Therapy with ibandronate in patients with OI leads to a normalisation of bone turnover markers and increasing bone density. Therefore serum alkaline phosphatase and bone density are possible parameters to monitor bisphosphonate treatment in patients with OI.


Nutrients ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 2075
Author(s):  
Anne Daly ◽  
Wolfgang Högler ◽  
Nicola Crabtree ◽  
Nick Shaw ◽  
Sharon Evans ◽  
...  

In patients with phenylketonuria (PKU), treated by diet therapy only, evidence suggests that areal bone mineral density (BMDa) is within the normal clinical reference range but is below the population norm. Aims: To study longitudinal bone density, mass, and geometry over 36 months in children with PKU taking either amino acid (L-AA) or casein glycomacropeptide substitutes (CGMP-AA) as their main protein source. Methodology: A total of 48 subjects completed the study, 19 subjects in the L-AA group (median age 11.1, range 5–6 years) and 29 subjects in the CGMP-AA group (median age 8.3, range 5–16years). The CGMP-AA was further divided into two groups, CGMP100 (median age 9.2, range 5–16years) (n = 13), children taking CGMP-AA only and CGMP50 (median age 7.3, range 5–15years) (n = 16), children taking a combination of CGMP-AA and L-AA. Dual X-ray absorptiometry (DXA) was measured at enrolment and 36 months, peripheral quantitative computer tomography (pQCT) at 36 months only, and serum blood and urine bone turnover markers (BTM) and blood bone biochemistry at enrolment, 6, 12, and 36 months. Results: No statistically significant differences were found between the three groups for DXA outcome parameters, i.e., BMDa (L2–L4 BMDa g/cm2), bone mineral apparent density (L2–L4 BMAD g/cm3) and total body less head BMDa (TBLH g/cm2). All blood biochemistry markers were within the reference ranges, and BTM showed active bone turnover with a trend for BTM to decrease with increasing age. Conclusions: Bone density was clinically normal, although the median z scores were below the population mean. BTM showed active bone turnover and blood biochemistry was within the reference ranges. There appeared to be no advantage to bone density, mass, or geometry from taking a macropeptide-based protein substitute as compared with L-AAs.


2014 ◽  
Vol 17 ◽  
pp. 19568 ◽  
Author(s):  
Amanda Samarawickrama ◽  
Sophie Jose ◽  
Caroline Sabin ◽  
Karen Walker-Bone ◽  
Martin Fisher ◽  
...  

2019 ◽  
Vol 3 (Supplement_1) ◽  
Author(s):  
Nadia Merchant ◽  
Nishitha Pillai ◽  
Chase Miller ◽  
Trevor Hadley ◽  
Lefkothea Karaviti ◽  
...  

2010 ◽  
Vol 162 (1) ◽  
pp. 183-189 ◽  
Author(s):  
Tuula Pekkarinen ◽  
Ursula Turpeinen ◽  
Esa Hämäläinen ◽  
Eliisa Löyttyniemi ◽  
Henrik Alfthan ◽  
...  

ObjectiveConcentrations of 50 and 75 nmol/l are proposed as serum 25-hydroxyvitamin D (25(OH)D) target for older people from the view of bone health. We evaluated vitamin D status of elderly Finnish women in light of these definitions, its relationship to bone mineral density (BMD) and turnover, and improvement by summer sunshine.DesignPopulation-based study.MethodsA total of 1604 ambulatory women aged 62–79 years were studied; 66% used vitamin D supplements. Serum 25(OH)D3was measured with HPLC before and after summer, and heel BMD in spring. In subgroups, serum parathyroid hormone (PTH) and type I procollagen aminoterminal propeptide (PINP) were analyzed.ResultsIn spring, 60.3% of the women had 25(OH)D3≤50 nmol/l, and the target of 75 nmol/l was reached by 9.1%. For supplement users, the respective numbers were 52.1 and 11.9%. Serum 25(OH)D3did not determine BMD or bone turnover measured by serum PINP. Summer sunshine increased serum 25(OH)D3by 17.4% (P<0.0001), but in autumn 84% of the subjects remained under the target of 75 nmol/l. In supplement users, PTH remained stable but decreased in others during summer (P=0.025).ConclusionsVitamin D status of elderly Finnish women is suboptimal if 25(OH)D3levels of 50 or 75 nmol/l are used as a threshold. It is moderately increased by supplement intake and summer sunshine. However, 25(OH)D3concentrations did not influence bone density in terms of serum PINP and bone turnover rate.


2006 ◽  
Vol 88 (6) ◽  
pp. 1324-1330 ◽  
Author(s):  
ROBERT P. HUANG ◽  
CATHERINE G. AMBROSE ◽  
ELROY SULLIVAN ◽  
RICHARD J. HAYNES

2019 ◽  
Vol 3 (Supplement_1) ◽  
Author(s):  
Marise Crivelli ◽  
Amina Chain ◽  
Flavia Bezerra

Abstract Objectives The study aim was to assess bone mineral density (BMD) and bone turnover in pre- and postmenopausal women with severe obesity. Additionally, we explored the association between soft tissue body composition and BMD according to menopausal status. Methods This is a cross-sectional study conducted in pre- (n = 37) and postmenopausal (n = 22) morbid obese (BMI >40 kg/cm2) women. Body composition and BMD at different sites (lumbar spine, proximal femur and forearm) were assessed by dual energy X-ray absorptiometry (DXA). Biochemical markers of bone metabolism (serum CTX and osteocalcin) and serum 25(OH)D were also measured. Differences between pre- and postmenopausal women were analyzed by Student´s t-test. Body composition [lean mass, visceral (VAT) and subcutaneous (SAT) adipose tissue] and other potential factors associated with BMD were investigated by multiple regression. Results BMD at all sites evaluated was similar in pre- and postmenopausal women (P > 0.05). Also, no differences between groups were observed for bone turnover markers (P > 0.05). In postmenopausal women, years after menopause was inversely associated with BMD at total body (β = −0.010, P < 0.01) and total femur (β = −0.009, P < 0.05). Serum 25(OH)D was also associated with total femur BMD (β = 0.008, P < 0.01) in postmenopausal women. Lean mass was not associated with BMD in both groups. VAT was directly associated with lumbar spine BMD in postmenopausal women (β = 0.135, P < 0.05). Conclusions Our results suggest that severe obesity may weaken the impact of menopause on bone mass and turnover. Also, soft tissue body composition appears to poorly influence bone density in these women. Funding Sources Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro (FAPERJ, Grant number E26/110.764/2013 for FFB).


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