General Skeletal Disorders

2014 ◽  
pp. 335-347
Author(s):  
Jennifer W. Lisle ◽  
Alex C. Lesiak ◽  
Lauren E. Fonseca
Keyword(s):  
Skeletal Disorders

Comparison of zoledronate and pamidronate in children with skeletal disorders: Short term safety experience from a single institution

2019 ◽  
Author(s):  
Laura Tosi ◽  
Andrea Estrada ◽  
Marianne Floor ◽  
Mirini Kim ◽  
Lindsay Weigley ◽  
...  
Keyword(s):  
Single Institution ◽  
Short Term ◽  
Skeletal Disorders

scholarly journals Skeletal disorders in the fowl: A review

1994 ◽  
Vol 23 (2) ◽  
pp. 203-236 ◽  
Author(s):  
Barry H. Thorp
Keyword(s):  
Skeletal Disorders

scholarly journals Rare skeletal disorders: a multidisciplinary postnatal approach to diagnosis and management

2021 ◽  
Vol 171 (5-6) ◽  
pp. 94-101
Author(s):  
Nina-Katharina Walleczek ◽  
Kristina Förster ◽  
Martina Seyr ◽  
Nadja Kadrnoska ◽  
Jennifer Kolar ◽  
...  
Keyword(s):  
Management Approach ◽  
Healthcare Team ◽  
Inherited Disorders ◽  
Skeletal Involvement ◽  
Diagnosis And Management ◽  
Huge Impact ◽  
Growth Center ◽  
Genetic Techniques ◽  
Skeletal Disorders ◽  
Diagnostic Flowchart

SummarySkeletal disorders are inherited disorders with significant skeletal involvement and most of them are rare or extremely rare. Based on the clinical, radiological and genetic phenotype, the group of skeletal disorder comprises more than 450 different and highly heterogeneous disorders. In skeletal disorders rapid and precise diagnoses are urgently needed for patient care and are based on the combination of clinical, radiological and genetic analysis. Novel genetic techniques have revolutionized diagnostics and have a huge impact on counseling of patients and families. Disease-specific long-term management in a multidisciplinary healthcare team in highly specialized centers is recommended to optimize care for these patients. Here we describe a multidisciplinary postnatal approach for the diagnosis and management of patients and families with rare skeletal disorders at the Vienna Bone and Growth Center. We discuss the value of a multidisciplinary diagnostic and management approach in the postnatal setting and provide a diagnostic flowchart for rare skeletal disorders.

scholarly journals A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012

2012 ◽  
Vol 7 (1) ◽  
pp. 55 ◽  
Author(s):  
Yazhou Cui ◽  
Heng Zhao ◽  
Zhenxing Liu ◽  
Chao Liu ◽  
Jing Luan ◽  
...  
Keyword(s):  
Systematic Review ◽  
Biomedical Journals ◽  
Skeletal Disorders

scholarly journals From disease to treatment: from rare skeletal disorders to treatments for osteoporosis

Endocrine ◽  
2016 ◽  
Vol 52 (3) ◽  
pp. 414-426 ◽  
Author(s):  
Natasha M. Appelman-Dijkstra ◽  
Socrates E. Papapoulos
Keyword(s):  
Skeletal Disorders

scholarly journals Targeted Delivery Systems for Molecular Therapy in Skeletal Disorders

2016 ◽  
Vol 17 (3) ◽  
pp. 428 ◽  
Author(s):  
Lei Dang ◽  
Jin Liu ◽  
Fangfei Li ◽  
Luyao Wang ◽  
Defang Li ◽  
...  
Keyword(s):  
Targeted Delivery ◽  
Delivery Systems ◽  
Molecular Therapy ◽  
Skeletal Disorders ◽  
Targeted Delivery Systems

scholarly journals The Regulation of Bone Metabolism and Disorders by Wnt Signaling

2019 ◽  
Vol 20 (22) ◽  
pp. 5525 ◽  
Author(s):  
Kazuhiro Maeda ◽  
Yasuhiro Kobayashi ◽  
Masanori Koide ◽  
Shunsuke Uehara ◽  
Masanori Okamoto ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Wnt Signaling ◽  
Bone Metabolism ◽  
Signaling Pathway ◽  
Wnt Signaling Pathway ◽  
Osteoporosis Treatment ◽  
Biological Phenomena ◽  
Approximate Molecular Weight ◽  
Skeletal Disorders ◽  
Canonical Wnt

Wnt, a secreted glycoprotein, has an approximate molecular weight of 40 kDa, and it is a cytokine involved in various biological phenomena including ontogeny, morphogenesis, carcinogenesis, and maintenance of stem cells. The Wnt signaling pathway can be classified into two main pathways: canonical and non-canonical. Of these, the canonical Wnt signaling pathway promotes osteogenesis. Sclerostin produced by osteocytes is an inhibitor of this pathway, thereby inhibiting osteogenesis. Recently, osteoporosis treatment using an anti-sclerostin therapy has been introduced. In this review, the basics of Wnt signaling, its role in bone metabolism and its involvement in skeletal disorders have been covered. Furthermore, the clinical significance and future scopes of Wnt signaling in osteoporosis, osteoarthritis, rheumatoid arthritis and neoplasia are discussed.

scholarly journals Inhibiting the integrated stress response pathway prevents aberrant chondrocyte differentiation thereby alleviating chondrodysplasia

eLife ◽  
2018 ◽  
Vol 7 ◽  
Author(s):  
Cheng Wang ◽  
Zhijia Tan ◽  
Ben Niu ◽  
Kwok Yeung Tsang ◽  
Andrew Tai ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Stress Response ◽  
Cell Fate ◽  
Therapeutic Strategy ◽  
Chondrocyte Differentiation ◽  
Integrated Stress Response ◽  
Stress Response Pathway ◽  
Skeletal Disorders ◽  
The Impact ◽  
Insight Into

The integrated stress response (ISR) is activated by diverse forms of cellular stress, including endoplasmic reticulum (ER) stress, and is associated with diseases. However, the molecular mechanism(s) whereby the ISR impacts on differentiation is incompletely understood. Here, we exploited a mouse model of Metaphyseal Chondrodysplasia type Schmid (MCDS) to provide insight into the impact of the ISR on cell fate. We show the protein kinase RNA-like ER kinase (PERK) pathway that mediates preferential synthesis of ATF4 and CHOP, dominates in causing dysplasia by reverting chondrocyte differentiation via ATF4-directed transactivation of Sox9. Chondrocyte survival is enabled, cell autonomously, by CHOP and dual CHOP-ATF4 transactivation of Fgf21. Treatment of mutant mice with a chemical inhibitor of PERK signaling prevents the differentiation defects and ameliorates chondrodysplasia. By preventing aberrant differentiation, titrated inhibition of the ISR emerges as a rationale therapeutic strategy for stress-induced skeletal disorders.

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