The aetiology of atypical bone health in individuals with Down syndrome.

PURPOSE: Trisomy 21 (T21), more commonly known as Down syndrome (DS) is a genetic condition where every cell in the body has an additional copy of chromosome 21. Despite improvements in our management of DS-associated health risks, we still do not understand how T21 impacts human bone health. This is a critical area of research owing to increased life expectancy of people with DS, and the predisposition of individuals with DS to early-onset osteoporosis and osteopenia. METHODS: We have conducted a scoping review using the methodological framework of Arksey and O'Malley (2005) which analysed the existing data on bone growth, development, maintenance and repair in T21 using the Medical Subject Headings (MeSH) terms: Trisomy 21, Down syndrome, Down's syndrome, bone development, bone growth, bone maintenance, fracture risk, osteoporosis, bone mineral density, bone strength, bone mineral content, bone formation, bone repair, osteoblast, osteoclast, osteocyte, osteomacs. A total of 31 papers were identified. After screening, 16 articles were included in full-text review. RESULTS: There was a total of eleven in vivo animal model studies identified and included in the scoping review. Of those eleven, ten revealed a difference in bone growth and development in animal models of DS, and two found that bone maintenance and repair in animal models of DS is reduced with both studies reporting an osteoporotic bone phenotype in male and female mice. All five studies that included human participants reported impacts on bone growth and development with reduced bone growth rates and delayed bone maturation in individuals with DS. At the time of review, there were no human studies directly investigating bone maintenance and repair in individuals with DS. CONCLUSION: We found documented evidence that T21 impacts bone growth and development, maintenance and repair in both animal models and human studies.

Exercise Intervention for Bone Metastasis: Safety, Efficacy and Method of Delivery.

BACKGROUND: The benefits of exercise for patients with cancer are well-established, however, for patients with bone metastases, exercise as adjuvant therapy is underutilised due to concerns for safety, efficacy and other barriers such as the method of delivery. This scoping review explores these barriers by reviewing the results of clinical trials conducted on participants with bone metastases. METHODS: A thorough literature search was undertaken using PubMed, Scopus, NIH Clinical Trials and Google Scholar databases. Articles that involved an exercise intervention and patients with bone metastases were included. Data were pooled, charted, analysed and reported according to PRISMA-ScR standards. RESULTS: A total of 26 trials were reviewed with interventions that included aerobic and resistance training. Only three serious adverse events occurred, not likely related to bone metastases. Nine trials (34.6%) involved unsupervised exercise sessions. Remote exercise delivery had an average of 80.3% compliance, rivalling in-person and mixed supervision. The results of this review reaffirm that exercise helps improve functional capacity, muscle strength, lean mass and cardiovascular function, and is safe in patients with bone metastases irrespective of in-person or remote delivery. CONCLUSIONS: Exercise therapy, whether delivered in person or remotely, is safe and efficacious for patients with bone metastases.

Fracture risk in breast cancer: Does obesity have an effect? A scoping review.

Background: Metastasis from breast cancer (BC) has a predilection for the skeleton. Due to its osteolytic nature, breast cancer bone metastasis (BCBM) appears to increase fracture risk. The association between obesity and its effect on bone seems to be skeletal site-specific. The incidence of pathological fractures often involves the axial skeleton even though the most debilitating effects of fractures are caused in the appendicular skeleton. Whether obesity increases fracture risk in BCBM remains inconclusive, however. At present, there is no literature that examines the effects of obesity on BCBM, and fracture risk are as such we sought to determine the effect of obesity on fracture risk in BC. This is the focus of the review. Objectives: This scoping review aims to examine the link between fracture outcomes of women with BC and obesity as reported by Body Mass Index (BMI). The purpose of this study is to determine if current literature suggests obesity increases fracture risk in women with BC. Design: We conducted a comprehensive literature search for breast cancer bone metastasis, obesity, and fracture risk in PubMed, Cochrane Library, NIH Clinical Trials, and OpenGrey. Articles that included BC, obesity, and fracture risk were included for analysis. Data were pooled, charted, analysed, and reported according to PRISMA-ScR standards. Data synthesis and results: Each outcome was stratified by BMI (obese or non-obese) status in women with breast cancer. Five studies were eligible for analysis and relevant data was charted to allow results to be synthesised. We found four out of five studies reported a positive association between BMI and fracture risk in females with breast cancer. Conclusions: We found a potential association of obesity and fracture risk in breast cancer. However, as we conducted this study it was evident that there is limited literature available on this topic and none for breast cancer bone metastasis. This poses an important direction for future research. Larger and robust pre-clinical and clinical randomized control trials are needed to better understand the relation between obesity and metastatic breast cancer.