Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1)

Filopanti, Marcello; Verga, Uberta; Ulivieri, Fabio Massimo; Giavoli, Claudia; Rodari, Giulia; Arosio, Maura; Natacci, Federica; Spada, Anna

doi:10.1007/s00223-018-0488-z

Cited by 15 publications

(20 citation statements)

References 25 publications

(45 reference statements)

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“…TBS was found lower in NF1 individuals without differences between sexes. As expected, 25(OH)D levels and BMD in hip and spine were also lower in NF1 subjects compared to healthy controls [ 423 ]. In the NF1 group, there was an evident association between serum vitamin D concentrations and the number of dermal neurofibromas, confirming previously reported data [ 417 ].…”

Section: Vitamin D and Neurofibromatosissupporting

confidence: 75%

“…In a recent investigation, Filopanti and colleagues proposed the trabecular bone score (TBS) as a tool for the measurement of bone microarchitecture and fracture risk in people with NF1 [ 423 ]. The authors determined vitamin D levels, vertebral and femoral BMD and TBS in 74 Italians with NF1 (26 males and 48 females) using a cohort of 61 voluntary healthy subjects (16 males and 45 females) as control group [ 423 ]. TBS was found lower in NF1 individuals without differences between sexes.…”

Section: Vitamin D and Neurofibromatosismentioning

confidence: 99%

“…In the NF1 group, there was an evident association between serum vitamin D concentrations and the number of dermal neurofibromas, confirming previously reported data [ 417 ]. On the contrary, no correlations between TBS and 25(OH)D or the number of cutaneous neurofibromas were found [ 423 ].…”

Section: Vitamin D and Neurofibromatosismentioning

confidence: 99%

See 2 more Smart Citations

Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design

Riccardi

Perrone

Napolitano

et al. 2020

Cancers

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Vitamin D is a fat-soluble steroid hormone playing a pivotal role in calcium and phosphate homeostasis as well as in bone health. Vitamin D levels are not exclusively dependent on food intake. Indeed, the endogenous production—occurring in the skin and dependent on sun exposure—contributes to the majority amount of vitamin D present in the body. Since vitamin D receptors (VDRs) are ubiquitous and drive the expression of hundreds of genes, the interest in vitamin D has tremendously grown and its role in different diseases has been extensively studied. Several investigations indicated that vitamin D action extends far beyond bone health and calcium metabolism, showing broad effects on a variety of critical illnesses, including cancer, infections, cardiovascular and autoimmune diseases. Epidemiological studies indicated that low circulating vitamin D levels inversely correlate with cutaneous manifestations and bone abnormalities, clinical hallmarks of neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant tumour predisposition syndrome causing significant pain and morbidity, for which limited treatment options are available. In this context, vitamin D or its analogues have been used to treat both skin and bone lesions in NF1 patients, alone or combined with other therapeutic agents. Here we provide an overview of vitamin D, its characteristic nutritional properties relevant for health benefits and its role in NF1 disorder. We focus on preclinical and clinical studies that demonstrated the clinical correlation between vitamin D status and NF1 disease, thus providing important insights into disease pathogenesis and new opportunities for targeted therapy.

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Section: Vitamin D and Neurofibromatosissupporting

confidence: 75%

Section: Vitamin D and Neurofibromatosismentioning

confidence: 99%

See 1 more Smart Citation

Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design

Riccardi

Perrone

Napolitano

et al. 2020

Cancers

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“…Indeed, NF1 patients reported a signi cant reduction in sun exposure compared to control subjects in the current study. Nonetheless, in vitro studies on skin samples might investigate the presence of a derangement of vitamin D production and metabolism in NF1 patients [35].…”

Section: Discussionmentioning

confidence: 99%

Bone Metabolism In Patients With Type 1 Neurofibromatosis: Key Role of Sun Exposure and Physical Activity

Ferrara

Tortora

et al. 2021

Preprint

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Bone metabolism has been rarely investigated in children affected by Neurofibromatosis (NF1). Aim of the present study was to assess bone mineral metabolism in children and adults NF1 patients, to determine the relevant factors potentially involved in the development of reduced bone mineral density (BMD), and provide possible therapeutic intervention in NF1 patients. 114 NF1 patients and sex and age matched controls were enrolled into the study. Clinical and biochemical factors reflecting bone metabolism were evaluated. Factors potentially affecting BMD were also investigated including: physical activity, sun exposure, vitamin D intake. Whenever the presence of vitamin D deficiency was recorded, cholecalciferol supplementation was started and BMD data obtained during supplementation were compared with previous ones. NF1 patients showed lower Z-scores at Dual-Energy X-ray Absorptiometry (DXA) than controls. Physical activity was significantly reduced in NF1 patients than in controls. Sun exposure was significantly lower in NF1 compared to control subjects. At linear regression analysis vitamin D was the most predictive factor of reduced BMD (p = 0.0001). Cholecalciferol supplementation significantly increased BMD z.score (p = 0.000). We speculated that a combination of different factors, including reduced sun exposure, possibly associated with reduced serum vitamin D levels, and poor physical activity, concur to the impaired bone status in NF1 patients. We also demonstrated that treatment with vitamin D can be effective in improving BMD in NF1 patients, including children. In conclusion, the findings of the current study are expected to have important implications for the follow-up and prevention of osteopenia/osteoporosis in this common genetic disease.

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“…Studies have shown that children with CPT are usually associated with neuro bromatosis type 1 (NF1), a disorder in which there is a loss of function of the NF1 gene, and CPT is also a rare manifestation of NF1 [8,9]. During skeletal development, the deletion of the NF1 gene decreases the level of bone metabolism, and children's bones exhibit excessive catabolic and anabolic de ciencies with a decreased level of 25-hydroxyvitamin D3 .…”

Section: Introductionmentioning

confidence: 99%

Are Children Suffering From Congenital Pseudarthrosis of the Tibia Associated With Bone Quality Decreased?

Yang

Tan

et al. 2021

Preprint

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Background: Congenital pseudarthrosis of the tibia (CPT) is a rare and difficult to treat congenital disease in neonates. Our team's previous study found that exosomes derived from serum of children with CPT can reduce the effect of bone formation. In this study, we used ultrasound bone densitometry to detect the bone quality between children with CPT and those non-metabolic disease children, to determine the bone strength of children with CPT. Methods: A total of 37 CPT children and 40 children without the bone metabolic disease (control group) were recruited in our hospital. The ultrasonic bone densitometer was used to examine the bilateral calcaneus of the subjects. According to the measurement results, we collected the broadband ultrasonic attenuation (BUA), sound transmission velocity (SOS), quantitative ultrasound index (QUI), bone strength index(STI) and bone mineral density estimation(BMDe) values. For the intergroup analysis, t test was used to determine the differences of various quantitative measurements. Multivariable regression was used to examine the associations between quantitive ultrasound measurements differences and age, body mass index (BMI), neurofibromatosis type 1 (NF1) and CPT Crawford type. Intra-class correlation coefficient (ICC) was calculated to estimate intra- and inter-rater agreements. Results: Seventy-four calcaneus scans from CPT patients (23 boys and 14 girls) and 80 calcaneus scans (24 boys and 16 girls) from the control. The CPT patients exhibited significantly lower SOS (1368.75±136.78 m/s), STI (7.2319±38.6525), QUI (8.2532±56.1720) and BMDe (-0.0241±0.3552 g/cm3) than the control (SOS: 1416.02±66.15 m/s, STI: 7.96±16.884, QUI: 28.8299±25.461, BMDe: 0.0180±0.1610 g/cm3). Multiple linear regression revealed that SOS, STI, QUI was statistically significant and negatively correlated with CPT Crawford classification.Conclusions: We found the incidence of decreased bone quality in CPT group was higher than that in the non-bone metabolic disease group. This phenomenon was not related to NF1 while related to CPT Crawford classification, which suggested that the higher grade of the CPT Crawford classification, the lower the bone strength and the higher the risk of fracture.

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Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1)

Cited by 15 publications

References 25 publications

Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design

Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design

Bone Metabolism In Patients With Type 1 Neurofibromatosis: Key Role of Sun Exposure and Physical Activity

Are Children Suffering From Congenital Pseudarthrosis of the Tibia Associated With Bone Quality Decreased?

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