Bone Disease Associated with Inactivating Aromatase Mutations and its Management [0.03%]
芳香酶失活突变相关的骨病及其管理措施
G Cavati,D Merlotti,P Cardamone et al.
G Cavati et al.
Aromatase deficiency (ORPHA:91; OMIM: 613,546) is a rare, autosomal recessive disorder due to loss of function mutations in the CYP19A1 gene, described in both genders with an estimated incidence below 1/1000000. While in female the clinica...
Carla Caffarelli,Stefano Gonnelli
Carla Caffarelli
Rett syndrome (RS) is a rare neurodevelopmental disorder primarily caused by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene, responsible for encoding MECP2 which plays a pivotal role in regulating gene expression. The n...
Chika Akabane,Mitsuo Kimura,Yukio Yamamoto et al.
Chika Akabane et al.
Human dentin performs its function throughout life, even though it is not remodeled like bone. Therefore, dentin must have extreme durability against daily repetitive loading. Elucidating its durability requires a comprehensive understandin...
Conflating the Operational Definition of Osteoporosis with Intervention Thresholds [0.03%]
将骨质疏松症的操作定义与其干预阈值相混淆
J A Kanis,H Johansson,M Lorentzon et al.
J A Kanis et al.
Low Bone Turnover, Mineralization Impairment, and Cortical Alterations in Patients with Axial Spondyloarthritis: A Histomorphometric Study [0.03%]
轴向脊柱关节炎患者骨转换低下、矿化障碍和皮质骨改变：组织形态计量学研究
Natalia P Machado,Marcelo M Pinheiro,Domingos C Chula et al.
Natalia P Machado et al.
Patients with radiographic axial spondyloarthritis (r-axSpA) experience a higher prevalence of fragility fractures, though the pathophysiology of osteoporosis associated with this disease remains poorly understood. The objective of this stu...
Multi-trait Genome-Wide Analysis Identified 20 Novel Loci for Sarcopenia-Related Traits in UK Biobank [0.03%]
多性状全基因组分析在UK生物银行中鉴定出与 sarcopenia 相关的20个新位点
Shu Ran,XiTong Lin,SiQi Wang et al.
Shu Ran et al.
This study aims to identify novel loci associated with sarcopenia-related traits in UK Biobank (UKB) through multi-trait genome-wide analysis. To identify novel loci associated with sarcopenia, we integrated the genome-wide association stud...
Long-Term Natural Hydroxyapatite and Synthetic Collagen Hydroxyapatite Enhance Bone Regeneration and Implant Fixation Similar to Allograft in a Sheep Model of Implant Integration [0.03%]
长期天然羟基磷灰石和合成胶原羟基磷灰石与羊模型中同种异体移植类似可增强骨再生和植入物固定的效果
Emma-Emilie Knudsen,Chris H Dreyer,Søren Overgaard et al.
Emma-Emilie Knudsen et al.
There is an increasing demand for a suitable bone substitute to replace current clinical gold standard autografts or allografts. Majority of previous studies have focused on the early effects of substitutes on bone formation, while informat...
Characterization of a Novel Col1a1G643S/+ Osteogenesis Imperfecta Mouse Model with Insights into Skeletal Phenotype, Fragility, and Therapeutic Evaluations [0.03%]
一种新型Col1a1G643S/+成骨不全小鼠模型的特征研究及对骨骼表型、易碎性和治疗评估的见解
Hiroyuki Saitou,Yasuhisa Ohata,Shinji Takeyari et al.
Hiroyuki Saitou et al.
Osteogenesis imperfecta (OI) is an inheritable skeletal disorder characterized by bone fragility often caused by pathogenic variants in the COL1A1 gene. Current OI mouse models with a glycine substitution in Col1a1 exhibit excessive severit...
Helicobacter pylori-Related Chronic Gastritis as a Risk Factor for Lower Bone Mineral Density [0.03%]
幽门螺旋杆菌相关慢性胃炎会增加低骨密度风险
Izumi Inoue,Noriko Yoshimura,Toshiko Iidaka et al.
Izumi Inoue et al.
We evaluated the role of Helicobacter pylori (H. pylori)-related chronic gastritis in the development of osteoporosis in a population-based study. A total of 1690 subjects in the cohort of the Research on Osteoarthritis/ osteoporosis Agains...
Osteomalacia: A Challenging Diagnosis Adverse Event Associated with Intravenous Ferric Carboxymaltose-A Case Report [0.03%]
静脉注射含羧基麦芽糖铁致骨软化症不良反应一例报告
Mauro Ferre-Sanfrancisco,Iván Del Bosque Granero,Marta Valero Expósito et al.
Mauro Ferre-Sanfrancisco et al.
Hypophosphatemia resulting from intravenous iron treatment has become an increasingly concerning syndrome in recent years. We report the case of a 66-year-old male patient with a medical history of ankylosing spondylitis (AS), Crohn's disea...