نتایج جستجو برای: familial hypophosphatemic rickets
تعداد نتایج: 58833 فیلتر نتایج به سال:
1. Carlsen NL, Krasilnikoff PA, Eiken M. Premature cranial synostosis in X-linked hypophosphatemic rickets: possible precipitation by 1-alpha-OH-cholecalciferol intoxication. Acta Paediatr Scand 73(1):149–54, 1984 2. Currarino G. Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases. Pediatr Radiol 37(8):805–12, 2007 3. Freudlsperger C, Hoffmann J, Castrillon-Oberndorfer...
Hereditary hypophosphatemic rickets represented by X-linked hypophosphatemic rickets (XLH) is a rare disorder characterized by hypophosphatemia, elevated alkaline phosphatase (ALP) and undermineralization of bone. Active vitamin D and phosphate are administered to correct hypophosphatemia and elevation of ALP. Overtreatment with phosphate leads to secondary hyperparathyroidism, and a large dose...
Rickets can manifest with a wide variety of rheumatic symptoms. In this paper, a fifteen year old female patient with hypophosphatemic rickets presenting with symptoms suggesting sacroiliitis at disease onset is reported. The sacroiliac joint involvement in this case was attributed to the subchondral bone fractures due to the secondary hyperparathyroidism. Her symptoms resolved completely after...
The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiologic mechanism: reduction in the phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of calcitriol, causing osteomalacia or ...
The nasal carriage of Staphylococcus aureus in 808 Australian medical students was studied. Five groups of students experienced varying degrees of clinical exposure in a hospital environment ranging from 0 to 42 months. The overall percentage of carriers among the five groups did not vary. However, with increasing clinical exposure there was a decrease in the percentage of isolates sensitive to...
4. Eisxnan JA, Hamstra Ad, Kream BE, DeLuca HF. A sensitive, precise and convenient method for the determination of 1,25thhydroxyvitainin D in human plasma. Arch Biochem Biophys 1976;176:235-43. 5 Reinhardt TA, Horst EL, OrfJW, Hollis BW. A microassay for 1,25-dihydroxyvitamin D not requiring high performance liquid chromatography: application to clinical studies. J Clin Endocrinol Metab 1984;5...
To evaluate levels and trends in drug-resistant tuberculosis (TB) in Zhejiang Province, China, we conducted 1 survey in each of 3 years (1999, 2004, and 2008). We found that <5% of new cases were multidrug-resistant TB. The prevalence of multidrug-resistant TB has not increased in new or re-treated cases in this province.
OBJECTIVE X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese families and 3 sporadic patients with hypophosphatemic rickets/osteomalacia. METHODS For this study, 45 individuals from 9 unrelated families of Ch...
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