Skeletal disorders

The elevation of serum alkaline phosphatase in skeletal disorders such as Paget s disease and various types of rickets was described by Kay (Kll, 

CuNiCAL Data of Five Patients with Transient Hyperphosphatasemia of Infancy  

Initials Age (months) Sex Clinical feature Highest serum alkaline phosphatase Tissue of origin as determined by isoenzymic studies Time until normal value recorded (weeks) 

18 F Irritable behavior. Had received pipenzolate bromide, promezathine hydrochloride, and dicylcomine intermittently. Urinary catecholamines transiently increased. 3830 U/liter Bone 6 

14 M Abdominal distension. Bilateral hydroceles. Distension disappeared spontaneously. 2800 U/liter Bone 5 

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Obtain a thorough history and physical examination that may indicate the possible presence of GH deficiency. Exclude other identifiable causes of growth failure, such as hypothyroidism, chronic illness, malnutrition, genetic syndromes, and skeletal disorders. 

Osteoporosis is the most common skeletal disorder, and approximately one in five Caucasian women in the United States has the disease. The prevalence of vertebral fracture in postmenopausal women is greater than 20%.2 Only one in three patients with osteoporosis has been diagnosed, and only one in seven will receive treatment.2... 

Osteoporosis is a skeletal disorder characterized by compromised bone strength predisposing individuals to an increased fracture risk. 

Osteoporosis is currently defined as a skeletal disorder characterized by compromised bone strength predisposing to an increased risk of fracture. Bone strength reflects the integration of two main features bone density and bone quality (NIH Consensus 2001). Thus, osteoporosis is a debilitating condition of the skeleton that propends to fractures and is associated with advanced age. The disease has a high prevalence in western countries, as it is a condition associated with advanced age, and it is on the rise since fife expectancy has risen dramatically in the last several decades. It is, therefore, a major public health problem because it not only induces morbidity (fractures and chronic sequelae) with a substantial impact on health-related quality of life, but is also associated with increased mortality (Badia et al. 2001, 2004). 

Goltzman D. Discoveries, drugs and skeletal disorders. Nat Rev Drug Discov 2002 1 784-96. 

IR imaging has also been used to investigate mouse models of human disease, including Fabry disease (a Upid storage disease) [50] and skeletal disorders. Gamacho et al. characterized bone mineraUzation in a mouse model of osteogenesis imperfecta (OI) after treatment with the bisphosphonate alendronate (ALN) [51]. The treatment of OI mouse models with ALN led to improved mechanical... 

However, there is only an indirect correlation between bone resorption and serum alkaline phosphatase activity. Patients with predominantly lytic lesions of the skeleton, as in multiple myeloma, have alkaline phosphatase values that are within reference limits or are only slightly elevated (S17). In addition, no correlation has been demonstrated between serum alkaline phosphatase and bone accretion rates as measured by bone-seeking isotopes (S36), which has prompted the suggestion that elevated serum alkaline phosphatase values in skeletal disorders might reflect the formation of bone matrix rather than bone (S36). 

The Prevalence of Serum Alkaline Phosphatase Elevation in Some Skeletal Disorders... 

Patients with this disorder, which is probably inherited as an autosomal recessive trait, suffer from marked skeletal deformities due to rapid turnover of lamellar bone with failure to lay down compact cortical bone (E19, T4). Abnormal amino acids are excreted in the urine and serum alkaline phosphatase, which is indistinguishable from that circulating in patients with other skeletal disorders (E19), is spectacularly elevated. 

Several bisphosphonates are available in the United States. Etidronate sodium (Didronel) is used for treatment of Paget s disease and may be used parenterally to treat hypercalcemia. Because etidronate is the only bisphospho-nate that inhibits mineralization, it has been supplanted largely by pamidronate and zoledronate for treating hypercalcemia. Pamidronate (Aredia) is approved for management of hypercalcemia but also is effective in other skeletal disorders. Pamidronate is available in the United States only for parenteral administration. For treatment of hypercalcemia, it may be given as an intravenous infusion of 60 to 90 mg over 4 to 24 hours. 

It is a metabolite of phenylbutazone and possesses the same antipyretie, analgesic, anti-inflammatory and mild urieosuric notions as the parent compound. It also finds its use in rheumatic and other musculo-skeletal disorders. It has also been recommended in the management of thrombophlebits. 

Laboratory for Skeletal Disorders and Rehabilitation, Harvard Medical School and Children s Hospital Medical Center, Boston, MA 02115... 

Acetonitrile is a teratomer. Pregnant hamsters were exposed to this compound by inhalation, ingestion, or injection during the early stage of embryogenesis. Severe axial skeletal disorders resulted in the offspring... 

Barrett IR, Papadimitriou DG (1996) Skeletal disorders in children with renal failure. J Pediatric Orthop 16 264-272... 

Pulmonary COPD, skeletal disorders which may restrict respiratory function Endocrine Addison s disease, thyroid dysfunction Gastrointestinal hepatic impairment, biliary tract impairment... 

The neonatal form presents as a skeletal disorder with bent bones, soft, undermineralized skull, and respiratory distress because of soft and dysplastic ribs. The infantile form can present unspecifically as poor feeding, failure to thrive, signs of rickets, flail chest and - most importantly - signs of elevated intracranial pressure. Apparently, the mineralization defect results in growth arrest of the cranial sutures ( functional craniosynostosis). In adults, mild hypophosphatasia may present as recurrent stress fractures and so-called pseudofractures (looser zones). In both children and adults, premature loss of teeth may be a sign of hypophosphatasia. 

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