PDF(Pubmed)
Abstract：
UNASSIGNED: Progressive osseous heteroplasia (POH) is an ultrarare genetic disorder characterized by an inactivating mutation in the GNAS gene that causes heterotopic ossification. Inhibition of the mammalian target of the rapamycin (mTOR) signalling pathway has been proposed as a therapy for progressive bone fibrodysplasia and non-genetic forms of bone heteroplasia. Herein, we describe the impact of using Everolimus as a rescue therapy for an identical twin girl exhibiting an aggressive clinical phenotype of POH.
UNASSIGNED: Clinical evaluation of the progression of the disease during Everolimus treatment was performed periodically. Cytokine markers involved in bone metabolism and protein markers related to bone activity were analyzed to explore bone turnover activity.
UNASSIGNED: The patient received Everolimus therapy for 36 weeks. During treatment, no clinical improvement of the disease was perceived. Analysis of biochemical parameters, namely, β-CTX (r 2 = -0.576, P-value = 0.016) and PNIP (r 2 = -0.598, P-value = 0.011), indicated that bone turnover activity was significantly reduced. Additionally, bone metabolism-related biomarkers showed only a significant positive correlation with PTH levels.
UNASSIGNED: Everolimus treatment did not modify the clinical progression of the disease in an aggressive form of POH, although an impact on the protein markers studied was observed.
UNASSIGNED: Clinical evaluation of the progression of the disease during Everolimus treatment was performed periodically. Cytokine markers involved in bone metabolism and protein markers related to bone activity were analyzed to explore bone turnover activity.
UNASSIGNED: The patient received Everolimus therapy for 36 weeks. During treatment, no clinical improvement of the disease was perceived. Analysis of biochemical parameters, namely, β-CTX (r 2 = -0.576, P-value = 0.016) and PNIP (r 2 = -0.598, P-value = 0.011), indicated that bone turnover activity was significantly reduced. Additionally, bone metabolism-related biomarkers showed only a significant positive correlation with PTH levels.
UNASSIGNED: Everolimus treatment did not modify the clinical progression of the disease in an aggressive form of POH, although an impact on the protein markers studied was observed.
摘要：
未经证实：进行性骨性异型增生（POH）是一种以GNAS基因失活突变为特征的超遗传性疾病，可导致异位骨化。已经提出抑制哺乳动物雷帕霉素靶蛋白(mTOR)信号通路作为进行性骨纤维发育不良和非遗传形式的骨异型增生的疗法。在这里，我们描述了使用依维莫司作为抢救治疗对表现出POH侵袭性临床表型的同卵双胞胎女孩的影响.
未经证实：定期对依维莫司治疗期间疾病进展进行临床评估。分析参与骨代谢的细胞因子标志物和与骨活性相关的蛋白质标志物，以探索骨转换活性。
未经批准：患者接受依维莫司治疗36周。治疗期间,未发现该疾病的临床改善。生化参数分析，即,β-CTX（r2=-0.576，P值=0.016）和PNIP（r2=-0.598，P值=0.011），表明骨转换活性显著降低。此外,骨代谢相关生物标志物仅与PTH水平呈显著正相关.
未经证实：依维莫司治疗并未改变侵袭性POH的临床进展，尽管观察到对所研究的蛋白质标记的影响。
未经证实：定期对依维莫司治疗期间疾病进展进行临床评估。分析参与骨代谢的细胞因子标志物和与骨活性相关的蛋白质标志物，以探索骨转换活性。
未经批准：患者接受依维莫司治疗36周。治疗期间,未发现该疾病的临床改善。生化参数分析，即,β-CTX（r2=-0.576，P值=0.016）和PNIP（r2=-0.598，P值=0.011），表明骨转换活性显著降低。此外,骨代谢相关生物标志物仅与PTH水平呈显著正相关.
未经证实：依维莫司治疗并未改变侵袭性POH的临床进展，尽管观察到对所研究的蛋白质标记的影响。
