Modeling-based bone formation transforms trabeculae to cortical bone in the sclerotic areas in Buschke-Ollendorff syndrome. A case study of two females with LEMD3 variants

Abstract

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Interest of Bone Histomorphometry in Bone Pathophysiology Investigation: Foundation, Present, and Future

“…To date, these two phenomena were usually differentiated by the morphological aspect of these cement lines which, by definition, are crenated after remodeling and smooth after modeling. Recently, an immunostaining of osteopontin has been reported, which differentiates osteopontin-rich smooth cement lines formed by modeling from osteopontin-poor scalloped cement lines generated by remodeling process ( 59 ).…”

Diffuse Idiopathic Skeletal Hyperostosis of Cervical Spine with Dysphagia—Molecular and Clinical Aspects

“…Many cytokines, growth factors, hormones, and vitamins are involved in the bone-repair and -remodeling phases. Growth factors belonging to the TGF-β superfamily, bone morphogenetic proteins (BMP), or TGF-β1 act locally on bone formation by stimulating the proliferation and osteogenic differentiation of mesenchymal stem cells (MSC) [9]. Gorman et al described a family with a genetic predisposition to DISH of the cervical spine [10].…”

“…pathway involved in the differentiation of bone-forming osteoblasts, skeletal genesis, and bone homeostasis. In humans, heterozygous pathogenic changes in fibrillin 1 (FBN1), transforming growth factor beta receptor 1/2 (TGFBR1/2), or in TGF-β inhibit this signaling pathway, phenotypically causing skeletal-deformity diseases (Marfan, Loeys Dietz, and Camurati-Engelman syndrome) [9]. Many cytokines, growth factors, hormones, and vitamins are involved in the bone-repair and -remodeling phases.…”

Generation of Tubular and Membranous Shape Textures with Curvature Functionals

“…In cells, the endoplasmic reticulum, where proteins are synthesized, consists of an interconnected network [96] that undergoes sheets-to-tubules topological transformations [87]. Furthermore, trabecular bone is a combination of rods and platelets [76,93] that are optimally restructured under mechanical stress [1,90,92] or pathological conditions [40,81,103].…”