Developing a Standardised Dataset for Natural History Studies in Fibrous Dysplasia/McCune-Albright Syndrome [0.03%]
纤维发育不良/McCune-Albright综合征自然史研究的标准数据集的建立
Ana Luisa Priego Zurita,Oana O Bulaicon,Jillian Bryce et al.
Ana Luisa Priego Zurita et al.
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare and complex condition caused by somatic variants in the GNAS gene that lead to a wide clinical spectrum. The diagnostic process and therapeutic pathway vary per centre and theref...
Accuracy of Low-Dose Chest CT-Based Artificial Intelligence Models in Osteoporosis Detection: A Systematic Review and Meta-analysis [0.03%]
基于低剂量胸部CT的AI模型在骨质疏松症检测中的准确性系统评价和 meta 分析
Huang Ya&#x;nan,Zhou Jianfeng,Tang Wei et al.
Huang Ya&#x;nan et al.
The purpose of this study is to systematically review and evaluate the accuracy of low-dose chest CT-based artificial intelligence in osteoporosis screening. A systematic literature search for relevant studies up to 13th December 2024 was p...
A Child with Cutaneous-Skeletal Hypophosphatemia Syndrome Caused by a Mosaic HRAS Mutation: Outcome of Treatment with Anti-FGF23 Antibody [0.03%]
抗FGF23抗体治疗HRAS嵌合体突变儿童低磷血症综合征的疗效分析
Jing Wu,Qiaoyu Cao,Wei Lu et al.
Jing Wu et al.
Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare mosaic disorder that causes bone abnormalities due to hypophosphatemic rickets and skeletal dysplasia and is a significant health comorbidity. Conventional therapy involving mult...
Ineke Böckmann,Dieter Haffner
Ineke Böckmann
X-linked hypophosphatemia is a rare genetic disease caused by pathogenic variants in the PHEX (phosphate-regulating endopeptidase homolog X-linked) gene with X-linked dominant inheritance that causes metabolic bone disease and other severe ...
Investigation of Osteoporosis in Persons Living with Human Immunodeficiency Virus: The HOST Study [0.03%]
HIV患者骨质疏松症的调查：HOST研究
Simone Bruhn Rosendahl,Jakob Starup-Linde,Merete Storgaard et al.
Simone Bruhn Rosendahl et al.
Bone health is an emerging concern in the aging human immunodeficiency virus (HIV)-infected population. We aimed to investigate bone mineral density (BMD) and bone microarchitecture in persons living with HIV (PLHIV). The study was a cross-...
Keto Acids Attenuate Skeletal Muscle Atrophy in Chronic Kidney Disease via Inhibiting Pyroptosis and Upregulating Irisin Precursor FNDC5 Expression [0.03%]
酮酸通过抑制吡罗素并上调FNDC5前体蛋白的表达来缓解慢性肾脏病小鼠骨骼肌萎缩
Peixin Wang,Qi Pang,Aihua Zhang
Peixin Wang
It is widely accepted that keto acids supplementation can protect skeletal muscle from atrophy. Pyroptosis has been considered to be one of the new mechanisms of muscle atrophy. This study aimed to explore the effects and mechanisms of keto...
Lothar Seefried,Dominik Rak,Franca Genest
Lothar Seefried
Pseudofractures are atraumatic radiolucencies resulting from compromised bone mineralization and are often associated with poor clinical outcomes in patients with skeletal disorders. The incidence, clinical course of healing, and the risk o...
Roles of Insulin-Like Growth Factor-1 in Muscle Wasting and Osteopenia in Mice with Hyponatremia [0.03%]
IGF-1在低钠血症小鼠肌肉萎缩和骨质疏松中的作用研究
Naoyuki Kawao,Akihito Nishikawa,Daichi Matsumura et al.
Naoyuki Kawao et al.
Hyponatremia is associated with sarcopenia and osteoporosis in elderly individuals. Skeletal muscle releases myokines, which affect distant organs, including bone. However, the detailed mechanisms by which hyponatremia influences muscle and...
Long-Term Denosumab Treatment in Adults with Juvenile Paget Disease [0.03%]
成人特发性幼年Paget病患者长期接受地诺单抗治疗
Stergios A Polyzos,Konstantinos Anastasilakis,Tim Cundy et al.
Stergios A Polyzos et al.
Juvenile Paget disease (JPD) is a very rare disease, mainly caused by biallelic inactivating mutations in the TNFRSF11B gene that encodes osteoprotegerin. Owing to its rarity, the treatment of JPD is largely empirical. Accelerated bone turn...
Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders [0.03%]
大骨骼硬化障碍队列的自然史、表型和分子特征研究新见解
Dilek Uludağ Alkaya,Esra Usluer,Zeynep Alp Ünkar et al.
Dilek Uludağ Alkaya et al.
Osteosclerotic bone diseases include more than 30 rare diseases characterized by excessive bone formation. The aim of this study is to compare the molecular pathogenesis and prognostic features of 12 different osteosclerotic diseases. Thirt...