Reference intervals in Danish children and adolescents for bone turnover markers carboxy-terminal cross-linked telopeptide of type I collagen (β-CTX), pro-collagen type I N-terminal propeptide (PINP), osteocalcin (OC) and bone-specific alkaline phosphatase (bone ALP)

Diemar, Sarah Seberg; Lylloff, Louise; Rønne, Maria Sode; Møllehave, Line Tang; Heidemann, Malene; Thuesen, Betina H.; Johannesen, Jesper; Schou, Anders; Husby, Steffen; Wedderkopp, Niels; Mølgaard, Christian; Jørgensen, Niklas Rye

doi:10.1016/j.bone.2021.115879

Cited by 20 publications

(22 citation statements)

References 46 publications

(51 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“… Notes : Values marked with asterisk (*) indicate the levels of markers were higher than the reference range; “–” means not available. RF: age‐specific and age‐specific reference range of markers (ALP, β‐CTX and OC) (Choi et al, 2019 ; Diemar et al, 2021 ; Hu et al, 2013 ; Zhang et al, 2019 ). Reference range: hsCRP: 0–10 mg/L; ESR: 0–24 mm/h; PTH: 15–65 pg/ml; 25(OHD): >20 ng/ml; Ca: 2.08–2.6 mmol/L; P: 0.8–1.6 mmol/L.…”

Section: Resultsmentioning

confidence: 99%

Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati‐Engelmann disease

Tao

Yang

Wang

et al. 2022

Molec Gen & Gen Med

View full text Add to dashboard Cite

Background To investigate the clinical characteristics and molecular diagnosis of Camurati‐Engelmann disease (CAEND) in Chinese individuals. Methods We recruited six patients aged 14 to 45 years in three unrelated families with CAEND, including five females and one male. Clinical manifestations, biochemical tests, and radiographic examinations were analyzed. The TGFB1 gene variants were further identified by Sanger sequencing. In addition, one female patient was followed up for 5 years. Results The onset age of the patients ranged from 1 to 6 years. All of them had family histories and consisted of an autosomal dominant inheritance pattern. Gait disturbance, fatigue, progressive bone pain, muscle atrophy, and weakness were the main complaints. Laboratory examinations revealed that the inflammatory markers were at high levels, in addition to the increased bone metabolism indicators. The thickened diaphysis of long bones and the narrowed medullary cavity was observed by radiography. Furthermore, bone scintigraphy detected abnormal symmetrical radioactive concentrations in the affected regions of bone. Sanger sequencing identified a missense heterozygous variant in exon 4 of the TGFB1 gene in families 1 and 2, resulting in Arg218Cys, which confirmed CAEND. Moreover, one novel variant c.669C > G in exon 4 of the TGFB1 gene harboring Cys223Trp was detected in family 3. Subsequent bioinformatics software predicted that the novel variant was pathogenic. Of interest, III:2 in family 3 experienced heart valve defects and tachycardia at birth, which had never been reported in CAEND patients before. Moreover, the response to drug treatment is also full of contradictions and is worthy of further study. Conclusion Besides the typical CAEND manifestations, the new phenotypic characteristics of tachycardia and heart valve defects were first reported in one woman carrying the novel variant p.Cys223Trp in TGFB1 the gene. In addition, we demonstrated that increased bone metabolism indicators and inflammatory markers may possess auxiliary diagnosis for CAEND.

show abstract

Section: Resultsmentioning

confidence: 99%

Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati‐Engelmann disease

Tao

Yang

Wang

et al. 2022

Molec Gen & Gen Med

View full text Add to dashboard Cite

show abstract

“…It is possible that another intervention with higher intensity of extra training and/or with more bone-strengthening exercises, such as jumps and resistance training, could also have resulted in group differences after Tanner stages 1–2. Another concern is the use of self-assessment in the Tanner evaluation, known to be less accurate compared with assessment by a trained nurse or physician ( Diemar et al, 2021 ). However, the use of self-assessment has been found acceptable in girls, while boys if anything overestimates their pubertal stage ( Duke et al, 1980 ).…”

Section: Discussionmentioning

confidence: 99%

Physical Activity in Late Prepuberty and Early Puberty Is Associated With High Bone Formation and Low Bone Resorption

et al. 2022

View full text Add to dashboard Cite

BackgroundPhysical activity (PA) increases bone mass, especially in late prepuberty and early puberty, but it remains unclear if and how PA affects both bone formation and bone resorption.Materials and MethodsWe included 191 boys and 158 girls aged 7.7 ± 0.6 (mean ± SD) in a population-based PA intervention study. The intervention group (123 boys and 94 girls) received daily physical education (PE) in school (40 min/day; 200 min/week) from study start and during the nine compulsory school years in Sweden. The controls (68 boys and 64 girls) received the national standard of 1–2 classes PE/week (60 min/week). During the intervention, blood samples were collected at ages 9.9 ± 0.6 (n = 172; all in Tanner stages 1–2) and 14.8 ± 0.8 (n = 146; all in Tanner stages 3–5) and after termination of the intervention at age 18.8 ± 0.3 (n = 93; all in Tanner stage 5) and 23.5 ± 0.7 (n = 152). In serum, we analyzed bone formation markers [bone-specific alkaline phosphatase (bALP), osteocalcin (OC), and N-terminal propeptide of collagen type 1 (PINP)] and bone resorption markers [C-terminal telopeptide cross links (CTX) and tartrate-resistant acid phosphatase (TRAcP 5b)]. Linear regression was used to compare age and sex-adjusted mean differences between intervention children and controls in these markers.ResultsTwo years after the intervention was initiated (at Tanner stages 1–2), we found higher serum levels of bALP and OC, and lower serum levels of TRAcP 5b in the intervention compared with the control group. The mean difference (95% CI) was for bALP: 13.7 (2.1, 25.3) μg/L, OC: 9.1 (0.1, 18.1) μg/L, and TRAcP 5b: −2.3 (−3.9, −0.7) U/L. At Tanner stages 3–5 and after the intervention was terminated, bone turnover markers were similar in the intervention and the control children.ConclusionDaily school PA in the late prepubertal and early pubertal periods is associated with higher bone formation and lower bone resorption than school PA 1–2 times/week. In late pubertal and postpubertal periods, bone formation and resorption were similar. Termination of the intervention is not associated with adverse bone turnover, indicating that PA-induced bone mass benefits gained during growth may remain in adulthood.

show abstract

“…Therefore, more studies in humans are needed and research is now moving in this direction. In fact, a very recent survey in Danish children and adolescents has shown that some markers, closely related to bone turnover and including TNAP (referred to as bone alkaline phosphatase), vary with age and sex and knowledge of their levels may be useful for determining any early bone disorders [ 101 ].…”

Section: Discussionmentioning

confidence: 99%

In Search of a Role for Extracellular Purine Enzymes in Bone Function

et al. 2021

View full text Add to dashboard Cite

Bone is one of the major tissues that undergoes continuous remodeling throughout life, thus ensuring both organic body growth during development and protection of internal organs as well as repair of trauma during adulthood. Many endogenous substances contribute to bone homeostasis, including purines. Their role has increasingly emerged in recent decades as compounds which, by interacting with specific receptors, can help determine adequate responses of bone cells to physiological or pathological stimuli. Equally, it is recognized that the activity of purines is closely dependent on their interconversion or metabolic degradation ensured by a series of enzymes present at extracellular level as predominantly bound to the cell membrane or, also, as soluble isoforms. While the effects of purines mediated by their receptor interactions have sufficiently, even though not entirely, been characterized in many tissues including bone, those promoted by the extracellular enzymes providing for purine metabolism have not been. In this review, we will try to circumstantiate the presence and the role of these enzymes in bone to define their close relationship with purine activities in maintaining bone homeostasis in normal or pathological conditions.

show abstract

Reference intervals in Danish children and adolescents for bone turnover markers carboxy-terminal cross-linked telopeptide of type I collagen (β-CTX), pro-collagen type I N-terminal propeptide (PINP), osteocalcin (OC) and bone-specific alkaline phosphatase (bone ALP)

Cited by 20 publications

References 46 publications

Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati‐Engelmann disease

Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati‐Engelmann disease

Physical Activity in Late Prepuberty and Early Puberty Is Associated With High Bone Formation and Low Bone Resorption

In Search of a Role for Extracellular Purine Enzymes in Bone Function

Contact Info

Product

Resources

About