نتایج جستجو برای: maccune albright syndrome

تعداد نتایج: 622258  

2013
Jill D Jacobson Angela L Turpin Scott A Sands

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...

2012
Emily K Sims Sally Garnett Franco Guzman Françoise Paris Charles Sultan Erica A Eugster

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...

Journal: :Indian pediatrics 2012
Rajesh Joshi Muznah Kapdi

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...

Journal: :Indian Journal of Endocrinology and Metabolism 2013

Journal: :The Journal of clinical investigation 1960
M H FIELD E REISS

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...

Journal: :PS: Political Science & Politics 1983

2017

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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