نتایج جستجو برای: anesthesia in osteogenesis imperfecta
تعداد نتایج: 16986453 فیلتر نتایج به سال:
Osteogenesis imperfecta (OI) is mainly characterized by bone fragility but muscle abnormalities have been reported both in OI mouse models and in children with OI. Muscle mass is decreased in OI, even when short stature is taken into account. Dynamic muscle tests aiming at maximal eccentric force production reveal functional deficits that can not be explained by low muscle mass alone. However, ...
variety of biochemical defects in type I procollagen resulting in disruption of triple helical conformation and procollagen suicide are responsible for the clinical features(2). Some cases are autosomal recessivtf but many are new dominant mutations. A large majority of patients die in early neonatal period or infancy but the incidence in general population is kept constant as a result of new m...
Increased inorganic serum pyrophosphate in serum and urine of patients with osteogenesis imperfecta.
Inorganic pyrophosphate can be accurately determined in 2 to 4 ml of serum or urine by an ion-exchange method. Pyrophosphate degradation by serum alkaline phosphatase and pyrophosphatase is stopped by adding to the serum 0.1 mmol of dithiothreitol (Cleland’s reagent) per liter. This method is suitable for screening large numbers of patients. All of the patients studied who had classical symptom...
Osteogenesis imperfecta type I is a mild, dominantly inherited, connective tissue disorder characterized by bone fragility. Mutations in type I collagen account for all known cases. In Mov-13 mice, integration of a murine retrovirus within the first intron of the alpha 1(I) collagen gene results in a null allele blocked at the level of transcription. This study demonstrates that mutant mice het...
We evaluated the efficacy of a monthly infusion of pamidronate on the frequency of fractures, biochemical effects, and bone mineral density in children with osteogenesis imperfecta. Eleven patients from 0.9 to 13.8 yr of age were included in this study. The patients were administered pamidronate intravenously (30 mg/m(2)) over a 4-hr period monthly for a period ranging from 6 to 37 months. Heig...
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