نتایج جستجو برای: maccune albright syndrome
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BACKGROUND McCune Albright syndrome (MAS) is a rare disorder characterized by precocious puberty, café-au-lait spots, and fibrous dysplasia. Its cause is an activating mutation in the GNAS gene, encoding a subunit of the stimulatory G protein, Gsalpha (Gsα). The action of any mediator that signals via Gsα and cyclic AMP can be up regulated in MAS. We had observed gastritis, gastroesophageal ref...
UNLABELLED BACKGROUND McCune-Albright Syndrome (MAS) is usually characterized by the triad of precocious puberty (PP), fibrous dysplasia, and café au lait spots. Previous treatments investigated for PP have included aromatase inhibitors and the estrogen receptor modulator, tamoxifen. Although some agents have been partially effective, the optimal pharmacologic treatment of PP in girls with M...
Pseudohypoparathyroidism due to deficient end organ response to parathyroid hormone (PTH) is characterized by hypocalcemia, hyperphosphatemia and increased serum PTH. We report a case of an 8-year-old girl with pseudohypoparathyroidism without features of Albright's hereditary osteodystrophy. The case is of interest as the child on serial follow-up over a period of 2 years developed hypothyroid...
Vitamin D-resistant rickets (R.R.) is a genetically transmitted form of rickets that fails to respond to treatment with nutritional doses of vitamin D. I,t is characterized by a low serum phosphorus, a normal serum calcium, and an elevated serum alkaline phosphatase, and is transmitted by a sex-linked dominant inheritance pattern (2). In the first detailed study of R.R., Albright, Butler and Bl...
The decrease in the incidence of MAS in the period of a decade has been attributed to the reduction in post-term delivery, aggressive management of abnormal heart rate monitoring, and decreased number of infants with a low Apgar score. [4]Elective induction of labour for pregnancies at or beyond 41 weeks has been shown to be associated with significant reduction in the incidence of MAS and fewe...
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