scholarly journals Characterization of Mineral and Bone Metabolism Biomarkers in a Chinese Consanguineous Twin Family with Primary Hypertrophic Osteoarthropathy

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Na Li ◽  
Yuhang Ma ◽  
Yun Jiang ◽  
Li You ◽  
Yunhong Huang ◽  
...  

Purpose. Primary hypertrophic osteoarthropathy (PHO) is a rare, autosomal, recessive genetic disease characterized by digital clubbing, periostosis, and pachydermia. The underlying cause for the pathogenesis of this disease is a defect in prostaglandin E2 (PGE2) degradation, caused by mutations in HPGD or SLCO2A1. In this study, we describe the clinical characteristics, SLCO2A1 mutations, and bone metabolic markers of a PHO pedigree from a Chinese consanguineous twin family. Methods. Whole blood and urine samples were collected from all the family members. All the exons and exon-intron boundaries of the HPGD and SLCO2A1 genes were amplified using polymerase chain reaction (PCR) and sequenced. The biomarkers of mineral and bone metabolism, including calcium, phosphorus, parathyroid hormone (PTH), 25-hydroxyvitamin D (25(OH)D), bone Gla-protein (BGP), C-terminal telopeptide of type I collagen (β-CTX), and urinary calcium/creatinine ratio (Uca/Ucr) were detected. Results. A homozygous (nonsense) mutation in the SLCO2A1 gene (c.1807C >T/p.R603 ∗ ) was detected in the proband. Five heterozygous carriers were also identified among his relatives, including his twin brother. The serum BGP (225.5 ng/ml), β-CTX (4112 pg/ml), and Uca/Ucr (0.63) levels were significantly elevated, while the 25(OH)D (37.1 nmol/L) level was reduced in the proband. The proband’s twin brother displayed increased levels of β-CTX (901 pg/ml) and insufficiency of 25(OH)D (67.29 nmol/L), while the other heterozygous carriers only displayed 25(OH)D insufficiency. Conclusion. The patients with PHO displayed an active state of bone reconstruction. There may be a lack of vitamin D, accompanied by an increase in BGP and β-CTX levels. Heterozygous mutations of SLCO2A1 might lead to mild PHO.

Author(s):  
Elżbieta Skowrońska-Jóźwiak ◽  
Piotr Gałecki ◽  
Ewa Głowacka ◽  
Cezary Wojtyła ◽  
Przemysław Biliński ◽  
...  

Background: Depression and osteoporosis are severe public health problems. There are conflicting findings regarding the influence of depression on bone metabolism. The aim of the presented study was to compare bone turnover markers and vitamin D levels between patients treated for depression and healthy controls. Patients and Methods: We determined a concentration of osteocalcin, carboxy-terminal telopeptide of type I collagen (β-CTX), 25-hydroxyvitamin D (25OHD) and 1,25(OH)2D3 in 99 patients, aged 46.9 ± 11 years, treated for depression, as well as in 45 healthy subjects. Depressive status was determined with the Hamilton Depression Scale (HDRS). Results: In patients treated for depression, we demonstrated significantly lower osteocalcin concentrations (p < 0.03) and higher concentration of β-CTX (result on the border of significance; p = 0.08). Those relationship were stronger in women. The level of 25OHD and 1,25(OH)2D3 did not differ significantly between the examined groups. We observed a negative correlation between the 25OHD and HDRS score after treatment in all patients treated for depression and in subgroups of women and subjects with recurrent depression. Conclusions: Our results indicate that depression is related to disturbances in bone metabolism, especially in women and patients with recurrent depression, suggesting its role in context of osteoporosis development.


Author(s):  
Patrick Lau ◽  
Åsa Beijer ◽  
André Rosenberger ◽  
Eckhard Schoenau ◽  
Christoph Stephan Clemen ◽  
...  

Acute and protracted effects of resistive exercise (RE) and resistive exercise with whole-body vibration (RVE) on metabolic markers of bone metabolism were investigated. Twenty-six men participated in a randomized training program including RE (n = 13; age = 23.4 ± 1.4 years) or RVE (n = 13; age = 24.3 ± 3.3 years). During the first session, acute C-terminal telopeptide of type I collagen (CTX) responses decreased by 12.9% (standard deviation, SD 13.7%) after 2 min, followed by a 15.5% (SD 36.0%) increase at 75 min after exercise (both p < 0.001). Procollagen type I amino terminal propeptide (P1NP) increased by 12.9% (SD 9.1%) at 2 min (p < 0.001) but no change occurred at 75 min. Sclerostin showed prolonged responses from 2 to 75 min post-exercise in the first session (p < 0.001). Acute responses at the first session were comparable between groups for CTX and P1NP, acute sclerostin responses were substantially greater in RE than in RVE (p = 0.003). No significant differences were noted in the resting baseline levels of CTX, P1NP, or sclerostin from the beginning to the end of the six-week progressive training. The present study therefore did not demonstrate any sizeable enhancement of bone turnover that could match the effects that have been repeatably made in response to countermeasure exercise during bed rest.


2016 ◽  
Vol 101 (8) ◽  
pp. 3222-3230 ◽  
Author(s):  
Jean Redmond ◽  
Anthony J. Fulford ◽  
Landing Jarjou ◽  
Bo Zhou ◽  
Ann Prentice ◽  
...  

Context: Ethnic groups differ in fragility fracture risk and bone metabolism. Differences in diurnal rhythms (DRs) of bone turnover and PTH may play a role. Objective: We investigated the DRs of plasma bone turnover markers (BTMs), PTH, and 1,25(OH)2D in three groups with pronounced differences in bone metabolism and plasma PTH. Participants: Healthy Gambian, Chinese, and white British adults (ages 60–75 years; 30 per country). Interventions: Observational study with sample collection every 4 hours for 24 hours. Main Outcomes: Levels of plasma C-terminal telopeptide of type I collagen, procollagen type-1 N-propeptide, N-mid osteocalcin, bone alkaline phosphatase, PTH, and 1,25-dihydroxyvitamin D were measured. DRs were analyzed with random-effects Fourier regression and cross-correlation and regression analyses to assess associations between DRs and fasting and 24-hour means of BTMs and PTH. Results: Concentrations of BTMs, PTH, and 1,25-dihydroxyvitamin D were higher in Gambians compared to other groups (P &lt; .05). The DRs were significant for all variables and groups (P &lt; .03) and were unimodal, with a nocturnal peak and a daytime nadir for BTMs, whereas PTH had two peaks. The DRs of BTMs and PTH were significantly cross-correlated for all groups (P &lt; .05). There was a significant positive association between C-terminal telopeptide of type I collagen and PTH in the British and Gambian groups (P = .03), but not the Chinese group. Conclusions: Despite ethnic differences in plasma BTMs and PTH, DRs were similar. This indicates that alteration of rhythmicity and loss of coupling of bone resorption and formation associated with an elevated PTH in other studies may not uniformly occur across different populations and needs to be considered in the interpretation of PTH as a risk factor of increased bone loss.


2012 ◽  
Vol 56 (4) ◽  
pp. 259-264 ◽  
Author(s):  
Claudia Cardoso Netto ◽  
Vivian Cristine Correia Vieira ◽  
Lizanka Paola Figueiredo Marinheiro ◽  
Sherry Agellon ◽  
Hope Weiler ◽  
...  

OBJECTIVE: To analyze if female Wistar rats at 56 weeks of age are a suitable model to study osteoporosis. MATERIALS AND METHODS: Female rats with 6 and 36 weeks of age (n = 8 per group) were kept over a 20-week period and fed a diet for mature rodents complete in terms of Ca, phosphorous, and vitamin D. Excised femurs were measured for bone mass using dual-energy x-ray absorptiometry, morphometry, and biomechanical properties. The following serum mar-kers of bone metabolism were analyzed: parathyroid hormone (PTH), osteocalcin (OC), osteoprotegerin (OPG), receptor activator of nuclear factor Κappa B ligand (RANKL), C-terminal peptides of type I collagen (CTX-I), total calcium, and alkaline phosphatase (ALP) activity. RESULTS: Rats at 56 weeks of age showed important bone metabolism differences when compared with the younger group, such as, highest diaphysis energy to failure, lowest levels of OC, CTX-I, and ALP, and elevated PTH, even with adequate dietary Ca. CONCLUSION: Rats at 26-week-old rats may be too young to study age-related bone loss, whereas the 56-week-old rats may be good models to represent the early stages of age-related changes in bone metabolism.


2021 ◽  
Vol 8 ◽  
Author(s):  
Julia Mentzel ◽  
Tabea Kynast ◽  
Johannes Kohlmann ◽  
Holger Kirsten ◽  
Matthias Blüher ◽  
...  

Psoriasis is a chronic inflammatory disease of the skin and joints. More recent data emphasize an association with dysregulated glucose and fatty acid metabolism, obesity, elevated blood pressure and cardiac disease, summarized as metabolic syndrome. TNF-α and IL-17, central players in the pathogenesis of psoriasis, are known to impair bone formation. Therefore, the relation between psoriasis and bone metabolism parameters was investigated. Two serum markers of either bone formation—N-terminal propeptide of type I procollagen (P1NP) or bone resorption—C-terminal telopeptide of type I collagen (CTX-I)—were analyzed in a cohort of patients with psoriasis vulgaris. In patients with psoriasis, P1NP serum levels were reduced compared to gender-, age-, and body mass index-matched healthy controls. CTX-I levels were indistinguishable between patients with psoriasis and controls. Consistently, induction of psoriasis-like skin inflammation in mice decreases bone volume and activity of osteoblasts. Moreover, efficient anti-psoriatic treatment improved psoriasis severity, but did not reverse decreased P1NP level suggesting that independent of efficient skin treatment psoriasis did affect bone metabolism and might favor the development of osteoporosis. Taken together, evidence is provided that bone metabolism might be affected by psoriatic inflammation, which may have consequences for future patient counseling and disease monitoring.


2006 ◽  
Vol 91 (11) ◽  
pp. 4453-4458 ◽  
Author(s):  
Mariateresa Sciannamblo ◽  
Gianni Russo ◽  
Debora Cuccato ◽  
Giuseppe Chiumello ◽  
Stefano Mora

Abstract Context: Patients with congenital adrenal hyperplasia (CAH) receive glucocorticoids as replacement therapy. Glucocorticoid therapy is the most frequent cause of drug-induced osteoporosis. Objective: The objective of the study was to evaluate bone mineral density (BMD) and bone metabolism in CAH patients. Design: This was a cross-sectional observational study. Setting: The study was conducted at a referral center for pediatric endocrinology. Patients and Other Participants: Thirty young patients with the classical form of CAH (aged 16.4–29.7 yr) treated with glucocorticoid from diagnosis (duration of treatment 16.4–29.5 yr) and 138 healthy controls (aged 16.0–30.0 yr) were enrolled. Main Outcome Measures: BMD was measured in the lumbar spine and whole body by dual-energy x-ray absorptiometry. Bone formation and resorption rates were estimated by serum measurements of bone-specific alkaline phosphatase and C-terminal telopeptide of type I collagen, respectively. Results: CAH patients were shorter than controls (women −6.8 and men −13.3 cm). Therefore, several methods were used to account for the effect of this difference on bone measurements. Whole-body BMD measurements were significantly lower, compared with controls (P &lt; 0.03), after controlling for height (on average −2.5% in females and −9.3% in male patients). No differences were found in lumbar spine measurements. Bone-specific alkaline phosphatase and C-terminal telopeptide of type I collagen serum concentrations were higher in CAH patients than control subjects (P &lt; 0.04). BMD measurements and bone metabolism markers did not correlate with the actual glucocorticoid dose or mean dose over the previous 7 yr. Conclusions: Young adult patients with the classical form of CAH have decreased bone density values, compared with healthy controls. This may put them at risk of developing osteoporosis early in life.


2020 ◽  
Vol 59 (8) ◽  
pp. 3527-3535
Author(s):  
David J. Clayton ◽  
Lewis J. James ◽  
Craig Sale ◽  
Iain Templeman ◽  
James A. Betts ◽  
...  

Abstract Purpose Intermittent energy restriction commonly refers to ad libitum energy intake punctuated with 24 h periods of severe energy restriction. This can improve markers of metabolic health but the effects on bone metabolism are unknown. This study assessed how 24 h severe energy restriction and subsequent refeeding affected markers of bone turnover. Methods In a randomised order, 16 lean men and women completed 2, 48 h trials over 3 days. On day 1, participants consumed a 24 h diet providing 100% [EB: 9.27 (1.43) MJ] or 25% [ER: 2.33 (0.34) MJ] of estimated energy requirements. On day 2, participants consumed a standardised breakfast (08:00), followed by an ad libitum lunch (12:00) and dinner (19:30). Participants then fasted overnight, returning on day 3. Plasma concentrations of C-terminal telopeptide of type I collagen (CTX), procollagen type 1 N-terminal propeptide (P1NP) and parathyroid hormone (PTH) were assessed as indices of bone metabolism after an overnight fast on days 1–3, and for 4 h after breakfast on day 2. Results There were no differences between trials in fasting concentrations of CTX, P1NP or PTH on days 1–3 (P > 0.512). During both trials, consuming breakfast reduced CTX between 1 and 4 h (P < 0.001) and PTH between 1 and 2 h (P < 0.05), but did not affect P1NP (P = 0.773) Postprandial responses for CTX (P = 0.157), P1NP (P = 0.148) and PTH (P = 0.575) were not different between trials. Ad libitum energy intake on day 2 was greater on ER [12.62 (2.46) MJ] than EB [11.91 (2.49) MJ]. Conclusions Twenty-four hour severe energy restriction does not affect markers of bone metabolism.


2021 ◽  
Vol 20 (6) ◽  
pp. 103-110
Author(s):  
Natalya A. Natalya A. Druzhinina ◽  
Dinara R. Merzlyakova ◽  
Gulnaz A. Vakhitova ◽  
Zilia А. Shangareeva ◽  
Aliya R. Khabibullina ◽  
...  

Aim. To study the indicators of bone metabolism in premature babies born naturally and children born with IVF. Material and methods. The premature babies’ study was conducted, they were divided into 4 groups: depending on the method of birth and weight: 1st-children born with IVF, with very low weight; the second group – similar to the first, but children with extremely low weight; the third – children with very low weight, born naturally, with ; the fourth – similar to the 3rd, but with extremely low weight. The level of calcium, parathyroid hormone, calcitonin and C-terminal telopeptides of type I collagen was determined. Results and discussion. Diagnosis of vitamin D deficiency is possible only by measuring certain biochemical parameters, primarily the levels of its metabolites in the blood. Clinical symptoms of vitamin D deficiency in the form of rickets, osteomalacia, osteoporosis and extra-skeletal manifestations as a result of this vitamin deficiency occur over a long period of time. The most informative indicator of the body’s vitamin D supply is the content of calcidiol [25 (OH)D] in both serum and blood plasma. Vitamin D deficiency was detected in more than half (67.7±4.8%) of premature newborns in the first year of life. It seemed that in premature babies born in different ways, vitamin D deficiency was noted in 8 %, insufficiency – in 67.7 %, and the normal content in 27.5 %. In children at an early age, there is a violation of bone metabolism (an increase in the level of calcium, parathyroid hormone, calcitonin, on the one hand, and a decrease in the C-terminal telopeptides of type I collagen, on the other). These changes were associated with the weight of children, while aggressive disorders were noted in children with extremely low weight. In premature infants (with a body weight of less than 1500 g), monitoring of the level of vitamin D in the blood and C-terminal telopeptides of type 1 collagen should be recommended. Conclusion. Bone modeling has a great advantage due to the analysis of the blood serum biomarkers levels in premature infants, it enables to establish the features of osteogenesis.


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