Disease relevance of Osteosclerosis

• A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS; OMIM 244460) [1].
• We performed mutation analysis of the LRP5 gene in 10 families or isolated patients with different conditions with an increased bone density, including endosteal hyperostosis, Van Buchem disease, autosomal dominant osteosclerosis, and osteopetrosis type I. Direct sequencing of the LRP5 gene revealed 19 sequence variants [2].
• Myelofibrosis and osteosclerosis are prominent features arising in mice overexpressing thrombopoietin (TPO) [3].
• The osteosclerotic process in one patient stabilized after successful treatment of her hairy cell leukemia with interferon alpha and deoxycoformycin suggesting that the osteosclerosis observed was related to the underlying malignant disease [4].
• Gene knockout experiments using such animal models have suggested the essential role of hematopoietic cell-derived transforming growth factor beta1 in inducing bone marrow fibrosis and stromal cell-derived osteoprotegerin in promoting osteosclerosis [5].

Psychiatry related information on Osteosclerosis

• We report a boy with trichothiodystrophy, ichthyotic skin changes, onychodystrophy, chronic neutropenia, osteosclerosis, hypothyroidism, nystagmus, growth and mental retardation, and microcephaly, who developed a progressive encephalopathy with ataxia and optic atrophy at 2.5 years of age [6].

High impact information on Osteosclerosis

• Increased bone formation and osteosclerosis in mice overexpressing the transcription factor Fra-1 [7].
• Subsequent investigation disclosed the cause of her osteosclerosis to be fluorosis secondary to the ingestion of well water containing 429 mumol/L of fluoride (recommended levels, 11 to 58 mumol/L) [8].
• Furthermore, the closely related integrin, alphavbeta5, does not substitute for alphavbeta3 during cytokine stimulation or authentic osteoclastogenesis. beta3 knockout mice, but not their heterozygous littermates, develop histologically and radiographically evident osteosclerosis with age [9].
• Since studies in animals and humans have shown that parathyroid hormone can stimulate bone formation and increase trabecular bone, and patients with primary and secondary hyperparathyroidism may exhibit osteosclerosis, we evaluated the effect of short-term administration of human parathyroid hormone, hPTH-(1--34), in patients with osteoporosis [10].
• These findings suggest that osteosclerosis in mice with TPO overexpression occurs predominantly via an up-regulation of OPG in host stromal cells leading to disruption of osteoclastogenesis [3].

Chemical compound and disease context of Osteosclerosis

• The loss of natural killing may reflect a loss of bone marrow secondary to estrogen-induced osteosclerosis [11].
• Moreover, calcitriol produced hyperosteoidosis and osteosclerosis in the same rats [12].
• We report serum biochemistry, noninvasive markers of bone turnover, tetracycline-labeled bone histomorphometry, and bone densitometry (DXA) data of four men presenting with newly diagnosed biopsy-proven MF and osteosclerosis [13].
• Because the pathogenesis of osteosclerosis in hypervitaminosis D is still not well elucidated, the authors experimentally studied hypervitaminosis D3 in 66 rabbits by injecting different doses of vitamin D3 [14].
• The mean serum aluminium (AL) level was 25.4 +/- 17.7 micrograms/l, while that of 1,25 vitamin D3 was 8.1 +/- 4.2 ng/l and of fluoride was 92.2 +/- 31.4 micrograms/l. The major radiological finding was osteosclerosis (70%) [15].

Biological context of Osteosclerosis

• We conclude that osteosclerosis in IMF is associated with increased endothelial OPG expression without concomitant RANKL downregulation [16].

Anatomical context of Osteosclerosis

• Here we show that transgenic mice overexpressing Fra-1 in various organs develop a progressive increase in bone mass leading to osteosclerosis of the entire skeleton, which is due to a cell-autonomous increase in the number of mature osteoblasts [7].
• We report a case of spinal cord compression in a Mexican immigrant due to vertebral osteosclerosis from chronic fluoride intoxication [17].
• Skeletal changes of hyperparathyroidism included (a) subperiosteal bone resorption, (b) radiolucent lesions, caused by either brown tumors or bone cysts, (c) slipped capital femoral epiphyses, (d) focal areas of osteosclerosis, (e) periosteal neostosis, and (f) osteopenia with reduced cortical and trabecular bone volume [18].
• She was subsequently found to have fluorosis as shown by radiological osteosclerosis in vertebrae and pelvis with histological changes of osteomalacia on bone biopsy and a high bone fluoride content [19].

Gene context of Osteosclerosis

• We tested the hypothesis that BMP-6 contributes to prostate cancer-induced osteosclerosis at bone metastatic sites [20].
• CONCLUSIONS: These data suggest that reduced expression of thrombospondins in Fra1 Tg mice underlies craniofacial dysmorphism, independent of osteosclerosis [21].
• INTRODUCTION: Tg mice overexpressing Fra1, a component of the transcription factor activator protein-1 (AP-1), show progressive osteosclerosis caused by cell autonomous abnormalities in osteoblasts [21].
• CONCLUSIONS: The regulated expression of BMP-7 mRNA in the prostate suggests that BMP-7 may explain in part the stimulation of bone formation and osteosclerosis by metastatic prostate adenocarcinoma [22].
• Interleukin-11 as an osteoprotegerin-inducing factor in culture medium of blastic cells from a patient with acute megakaryocytic leukemia complicated with osteosclerosis [23].

References