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Recent Topics in Fibrodysplasia Ossificans Progressiva
Takenobu Katagiri,Sho Tsukamoto,Yutaka Nakachi,Mai Kuratani 대한내분비학회 2018 Endocrinology and metabolism Vol.33 No.3
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease that is characterized by the formation of heterotopic bone tissuesin soft tissues, such as skeletal muscle, ligament, and tendon. It is difficult to remove such heterotopic bones via internal medicineor invasive procedures. The identification of activin A receptor, type I (ACVR1)/ALK2 gene mutations associated with FOP hasallowed the genetic diagnosis of FOP. The ACVR1/ALK2 gene encodes the ALK2 protein, which is a transmembrane kinase receptorin the transforming growth factor-β family. The relevant mutations activate intracellular signaling in vitro and induce heterotopicbone formation in vivo. Activin A is a potential ligand that activates mutant ALK2 but not wild-type ALK2. Various types of smallchemical and biological inhibitors of ALK2 signaling have been developed to establish treatments for FOP. Some of these are inclinical trials in patients with FOP.
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Norifumi Fujii,Nobukazu Okimoto,Manabu Tsukamoto,Norimitsu Fujii,Kei Asano,Yoshiaki Ikejiri,Toru Yoshioka,Takafumi Tajima,Yoshiaki Yamanaka,Yukichi Zenke,Makoto Kawasaki,Junya Ozawa,Takuya Umehara,Sho 대한골다공증학회 2021 Osteoporosis and Sarcopenia Vol.7 No.4
Objectives: Physical activity to maintain bone mass and strength is important for hip fracture prevention. We aim to investigate the relationship between physical performance/activity status and bone mineral density (BMD)/hip structural analysis (HSA) parameters among postmenopausal women in Japan. Methods: Sixty-two postmenopausal women diagnosed with osteoporosis (mean age: 72.61 ± 7.43 years) were enrolled in this cross-sectional observational study. They were evaluated for BMD and HSA in the proximal femur by dual-energy X-ray absorptiometry and underwent several physical performance tests, the Geriatric Locomotive Function Scale of 25 questions (GLFS-25). Principal component analysis (PCA) was used to summarize data on the BMD/HSA parameters. Partial correlation analysis, multiple regression analysis, and structural equation modeling (SEM) were performed to investigate the relationship between physical performance/activity status and BMD/HSA parameters of the proximal femur. Results: In a partial correlation analysis adjusted for age and body mass index (BMI), GLFS-25 scores were correlated with HSA parameter (|r| = 0.260-0.396, P < 0.05). Principal component 1 (PC1) calculated by PCA was interpreted as more reflective of bone strength based on the value of BMD/HSA parameters. The SEM results showed that the model created by the 3 questions (Q13, brisk walking; Q15, keep walking without rest; Q20, load-bearing tasks and housework) of the GLFS-25 had the best fit and was associated with the PC1 score (β = -0.444, P = 0.001). Conclusions: The GLFS-25 score was associated with the BMD/HSA parameter, which may reflect the bone strength of the proximal femur as calculated by PCA.
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