Rare Association Between Osteogenesis Imperfecta and Chondrosarcoma: Could a Pathogenic Variant in the Gene SERPINF1 Explain It?

Osteogenesis imperfecta (OI) type VI is a rare inherited disorder of the connective tissue caused by pathogenic variants in SERPINF1 gene, which encodes the pigment epithelium-derived factor (PEDF). PEDF is implicated in many biologic processes, including an anti-cancer role. This information is supported by in vitro and in vivo studies that evidenced its anti-angiogenic, anti-tumorigenic, and anti-metastatic properties. Although OI is related to skeletal changes such as bone fragility and deformities, as well as to other connective tissue defects, it does not represent a greater predisposition to the development of skeletal tumors. Here, we report on an adult with OI in which a deletion in exon 8 of the SERPINF1 gene (c.1152_1170del; p.384_390del) was identified. The patient presented popcorn calcification in both femoral epiphyses, but one of them presented radiological characteristics and evolution suspected of malignancy. Later, it was diagnosed as chondrosarcoma. This paper discusses that OI type VI patients may be at risk of developing some types of cancer.

Reasons to avoid vitamin D deficiency during COVID-19 pandemic.

The effects of vitamin D on the musculoskeletal system are well established. Its deficiency causes osteomalacia, secondary hyperparathyroidism, and an increased risk for fractures and falls. However, clinical and experimental evidence points to extra-skeletal actions of vitamin D, including on immune and respiratory systems. Thus, during this COVID-19 pandemic, a possible deleterious role of vitamin D deficiency has been questioned. This paper aims to present a brief review of the literature and discuss, based on evidence, the role of vitamin D in the lung function and in the prevention of respiratory infections. Relevant articles were searched in the databases MEDLINE/PubMed and SciELO/LILACS. The mechanisms of vitamin D action in the immune system response will be discussed. Clinical data from systematic reviews and meta-analyses show benefits in the prevention of respiratory infections and improvement of pulmonary function when vitamin D-deficient patients are supplemented. At the time of writing this paper, no published data on vitamin D supplementation for patients with COVID-19 have been found. Vitamin D supplementation is recommended during this period of social isolation to avoid any deficiency, especially in the context of bone outcomes, aiming to achieve normal values of 25(OH)D. The prevention of respiratory infections and improvement of pulmonary function are additional benefits observed when vitamin D deficiency is treated. Thus far, any protective effect of vitamin D specifically against severe COVID-19 remains unclear. We also emphasize avoiding bolus or extremely high doses of vitamin D, which can increase the risk of intoxication without evidence of benefits.

A High-Intensity Jump-Based Aquatic Exercise Program Improves Bone Mineral Density and Functional Fitness in Postmenopausal Women.

The aim of this study was to verify the effects of a high-intensity jump-based aquatic exercise (HIIAE) program on bone mass and functional fitness in postmenopausal women. We randomly assigned 25 women (65 ± 7 years) into two groups: Training group (T, n = 15) and Untrained group (Un, n = 10). The T group was submitted to 24 weeks of HIIAE program, where each session lasted for 30 minutes. The following parameters were assessed before and 6 months following the intervention: bone and physical fitness; lumbar spine (LS), total femur (TF), and whole body (WB) bone mineral density (BMD); agility (time up-and-go, TUG); and leg strength (chair stand test, CS). We observed a significant increase (p < 0.01) in LS, (Un: -0.88 ± 3.55, T: 3.71 ± 3.68; %), TF (Un: -1.38 ± 17.76, T: 6.52 ± 2.71; %), and WB (Un: 2.09 ± 3.17, T: 3.23 ± 4.18) BMD in the T group. Regarding functional fitness, the T group showed improvements in both TUG (before: 6.86 ± 1.24 vs. after: 6.22 ± 1.13 seconds; p < 0.05) and CS (before: 16 ± 4 vs. after: 19 ± 5 repetitions; p > 0.05) tests when compared with the U group's TUG (before: 5 ± 1, after: 6 ± 1 seconds; p < 0.05) and CS (before: 20 ± 2, after: 19 ± 2 repetitions; p > 0.05) scores. Our data suggest that a high-intensity, jump-based interval aquatic exercise program is able to improve BMD and functional fitness parameters in postmenopausal women.

The benefits of a high-intensity aquatic exercise program (HydrOS) for bone metabolism and bone mass of postmenopausal women.

This study aimed to evaluate the 24-week effects of a high-intensity aquatic exercise program on bone remodeling markers and bone mass of postmenopausal women. In this randomized, controlled trial we studied 108 women (58.8 ± 6.4 years), randomized into Aquatic Exercise Group (AEG), n = 64, performing 24 weeks of aquatic exercises, and Control Group (CG), n = 44, sedentary. They had their fasting morning blood sample collected for the measures of intact parathyroid hormone (iPTH), procollagen type 1 amino-terminal propeptide (P1NP) and carboxy-terminal cross-linking telopeptide of type I collagen (CTx). Bone mass was measured by dual-energy X-ray absorptiometry before and after the intervention. Participants of both groups received a daily supplementation of 500 mg of elementary calcium and 1,000 IU of vitamin D (cholecalciferol). Results showed an augment in bone formation marker (P1NP) only in the AEG (15.8 %; p = 0.001), and although both groups experienced significant enhancements in bone resorption marker (CTx), this increase was less considerable in the AEG (15 % in the AEG and 29 % in the CG). IPTH was increased by 19 % in the CG (p = 0.003) at the end. The femoral trochanter BMD presented a 1.2 % reduction in the CG (p = 0.009), whereas in the AEG no change was observed (p = 0.069). The proposed aquatic exercise program was efficient in attenuating bone resorption raise and enhancing bone formation, which prevented the participants in the AEG from reducing the femoral trochanter BMD, as happened in the CG.

High-intensity aquatic exercises (HydrOS) improve physical function and reduce falls among postmenopausal women.

OBJECTIVE: This study aims to investigate the effects of an aquatic exercise program (HydrOS) on neuromuscular function and falls among postmenopausal women. METHODS: One hundred eight postmenopausal women (mean [SD] age, 58.8 [6.4] y) were randomly divided into the control group (CG; n = 44) and the aquatic exercise group (AEG; n = 64). Both groups received elementary calcium 500 mg/day and cholecalciferol 1,000 IU/day. For 24 weeks, the AEG participated in the aquatic exercise program, whereas the CG remained sedentary. The following variables were measured before and after the program: number of falls and fallers (7 mo before and after the intervention); flexibility, using Wells' Sit-and-Reach Test (FLEX); static balance, using the Unipedal Stance Test (UST); mobility, using the Timed-Up-and-Go test (TUG); handgrip strength of the dominant hand (HGS); and maximal isometric strength of back extensor muscles (SBE), strength of hip flexor muscles (SHF), and strength of knee extensor muscles (SKE). The muscle strength tests were considered the primary outcome, whereas the other neuromuscular tests, together with falls, were considered secondary outcomes. Results were significant when P ≤ 0.05. RESULTS: Serum 25-hydroxyvitamin D significantly increased by 21% in the CG and by 23% in the AEG (P < 0.001). The number of falls and fallers after the program remained unchanged in the CG; in the AEG, the mean number of falls decreased from 2.00 to 0.29 (P < 0.0001), and the number of fallers decreased by 44% (P < 0.0001). All neuromuscular variables significantly improved in the AEG: FLEX (26.6%; P < 0.0001), UST (14.1%; P < 0.001), TUG (23.7%; P < 0.001), HGS (13.4%; P < 0.001), SBE (26.2%; P < 0.001), SHF (18.5%; P = 0.039), and SKE (7.7%; P < 0.001). In the CG, significant improvements in FLEX (12.2%; P = 0.009), UST (4.5%; P < 0.001), TUG (10%; P < 0.001), and SHF (5.7%; P = 0.039) were observed and could be explained by increasing serum 25-hydroxyvitamin D level attributable to supplementation. CONCLUSIONS: The aquatic exercise program HydrOS is a safe and efficient way to improve physical function and to reduce falls among postmenopausal women.

Effects of circuit-based exercise programs on the body composition of elderly obese women.

AIM: The aim of this study was to investigate the impact of circuit-based exercise on the body composition in obese older women by focusing on physical exercise and body weight (BW) gain control in older people. METHODS: Seventy older women (>60 years old) voluntarily took part in the study. Participants were randomized into six different groups according to body mass index (BMI): appropriate weight (AW) control (AWC) and trained (AWT) groups, overweight (OW) control (OWC) and trained (OWT) groups, and obesity (O) control (OC) and trained (OT) groups. The exercise program consisted of 50 minutes of exercise three times per week for 12 weeks. The exercises were alternated between upper and lower body using rest between sets for 40 seconds with intensity controlled by heart rate (70% of work). The contraction time established was 5 seconds to eccentric and concentric muscular action phase. The following anthropometric parameters were evaluated: height (m), body weight (BW, kg), body fat (BF, %), fat mass (FM, kg), lean mass (LM, kg), and BMI (kg/m(2)). RESULTS: The values (mean ± standard deviation [SD]) of relative changes to BW (-8.0% ± 0.8%), BF (-21.4% ± 2.1%), LM (3.0% ± 0.3%), and FM (-31.2% ± 3.0%) to the OT group were higher (P < 0.05) than in the AWT (BW: -2.0% ± 1.1%; BF: -4.6% ± 1.8%; FM: -7.0% ± 2.8%; LM: 0.2% ± 1.1%) and OWT (BW: -4.5% ± 1.0%; BF: -11.0% ± 2.2%; FM: -16.1% ± 3.2%; LM: -0.2% ± 1.0%) groups; additionally, no differences were found for C groups. While reduction (P < 0.03) in BMI according to absolute values was observed for all trained groups (AWT: 22 ± 1 versus 21 ± 1; OWT: 27 ± 1 versus 25 ± 1, OT: 34 ± 1 versus 30 ± 1) after training, no differences were found for C groups. CONCLUSION: In summary, circuit-based exercise is an effective method for promoting reduction in anthropometrics parameters in obese older women.