Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Tracheomalacia is a condition characterized by weakness of the tracheal walls and supporting cartilage. It may be congenital, occurring in association with other lesions, such as vascular ring, tracheoesophageal fistula, dyschondroplasia, congenital cysts or tumors, or it may be acquired, most commonly as a result of protracted endotracheal intubation and less often of irradiation, trauma or neoplasm. We present a case of acquired tracheomalacia in a 15-year-old boy, a victim of Proteus syndrome (hemihypertrophy, subcutaneous tumors, and macrodactyly), who had congenital scoliosis with secondary chronic restrictive pulmonary disease, for which he was admitted to our hospital for surgical correction of the spine. Unfortunately, his conditions, particularly of respiratory, worsened after the operation, which called for an emergent tracheostomy. During the procedure, high airway pressure and CO2 retention developed, and an extreme narrowing of the tracheal lumen was revealed by fiberoptic bronchoscopy. Acquired tracheomalacia was diagnosed. The probable mechanisms, diagnostic tests, and treatments of tracheomalacia are hereunder discussed.
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PMID:Acquired tracheomalacia--a case report. 908 53

Parathyroid hormone (PTH)-related peptide (PTHrP) was determined to be a factor inducing malignancy-associated hypercalcemia by activating a common receptor (PTH/PTHrP receptor) with PTH. PTHrP gene "knock out" mice showed a form of dyschondroplasia due to reduced proliferation of chondrocytes. In addition, heterogenous populations of variously-differentiated chondrocytes were present in the hypertrophic zone of the mutant epiphyseal plate. Although the homozygotes die within several hours after birth, the adult mice, heterozygous for PTHrP gene deletion, showed a delayed skeletal abnormality at 3 month old, with a reduced amount of PTHrP transcript, therefore, PTHrP appears to modulate cell proliferation and differentiation at both fetal and adult stages. The co-localization of PTHrP and its receptor in osteoblastic cells and chondrocytes suggested a paracrine/autocine mode of action manner of these molecules. Recently, fibroblast growth factor receptor 3 (FGFR3) deficient mice demonstrated skeletal defects including kyphosis, scoliosis, crooked tails and curvature and overgrowth of long bones and vertebrae, which are caused by an increase in proliferation. Therefore, it seems that PTHrP and FGFR3 serve as positive and negative regulators on the chondrocyte proliferation, respectively. In this paper, we review our recent studies on the histological abnormality of long bone seen in PTHrP gene deficient- and FGFR3 gene deficient-mice.
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PMID:The biological action of parathyroid hormone-related peptide (PTHrP) and fibroblast growth factor receptor 3 (FGFR3) on bone and cartilage. 1115 87