Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0153690 (bone metastases)
 6,382 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Data from a series of 45 internal fixations for malignant secondary tumors of the humerus are analyzed. The tumors occurred late in the evolution of the cancer, and represented 24% of appendicular bone metastases for which operations were performed. Statistics of the patients, fractures, treatment, and results are presented and conclusions drawn. Prognosis should be related to the types of primary tumor. Blind nailing or pinning is recommended, and indications for preventive osteosynthesis are discussed.
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PMID:Surgical treatment of malignant secondary tumors of the humerus: report of 45 cases. 50 69

The LDL receptor-related protein 5 (LRP5) is a member of the LDL receptor family, which also includes the VLDL receptor and the apolipoprotein E receptor 2. The LRP5 is a co-receptor of Wnt located on the osteoblast membrane between two other receptors, Frizzled and Kremen. Frizzled and LRP5 bind to Wnt, thereby stabilizing beta-catenin and activating bone formation. When the dickkopf protein (Dkk) binds to Kremen and LRP5, this last undergoes internalization and therefore becomes unable to bind Wnt; this leads to degradation of beta-catenin and to inhibition of bone formation. In humans, loss of LRP5 function causes osteoporosis-pseudoglioma syndrome, which is characterized by congenital blindness and extremely severe childhood-onset osteoporosis (lumbar spine Z-score often < -4) with fractures. The G171V mutation prevents Dkk from binding to LRP5, thereby increasing LRP5 function; the result is high bone mass due to uncoupling of bone formation and resorption. The Z-scores in this condition can exceed +6 at the hip and spine. The LRP5 and Wnt/beta-catenin reflect the level of bone formation and play a central role in bone mass accrual and normal distribution. Furthermore, LRP5 may contribute to mediate mechanical loads within bone tissue. Identification of the Wnt/beta-catenin pathway is a breakthrough in the elucidation of pathophysiological mechanisms affecting bone tissue and suggests new treatment targets for patients with osteoporosis or specific malignant conditions such as myeloma and sclerotic bone metastases.
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PMID:LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. 1585 Sep 91

Esthesioneuroblastoma (ENB) is a rare malignant tumor accounting for 3% of all sinonasal cancers. It arises from the olfactory epithelium and usually affects subjects aged 30-50 years. It is uncommon in children. It is often diagnosed late because tumor remains confined to its original site for long and prognosis depends on locoregional extension (in particular to the brain and the orbital regions). We report the case of a 3-year old child with sphenoidal esthesioneuroblastoma discovered after early onset blindness. This study aims to highlight the clinical, radiological, anatomopathological, therapeutic and prognostic peculiarities of this disease while insisting on the importance of early diagnosis affecting prognosis. Unfortunately, diagnosis is still pejorative due to high recidivism rates as well as to the occurrence of distant metastases (in particular lung and bone metastases).
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PMID:[Pediatric esthesioneuroblastoma: an exceptional malignant lesion (a case study and literature review)]. 3103 4