Identification of two novel mutations associated with combined protein C and protein S deficiency
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چکیده
منابع مشابه
Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations.
This study investigates type II protein C deficiency in a family with manifestations of both arterial and venous thrombosis. Of 64 members of the kindred, 14 have been tested and 7 have PC deficiency. Among affected individuals (n = 7), mean protein C levels by different assays were as follows: enzyme-linked immunosorbent assay (ELISA), 3.8 micrograms/mL (2.1 to 4.3 micrograms/mL); amidolytic w...
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BACKGROUND Only a few mutations associated with qualitative protein S deficiency have already been described. Sensitivity and specificity for type II PROS1 mutations of commercially available reagents for measuring Protein S (PS) activity are not well established. Whether these mutations are significant risk factors for thrombosis remains an unresolved question. METHODS In order to address th...
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The answers are a definite YES to (i, ii and iii) and a very clear NO to (iv). Regarding (v), for decades our obstetrician colleagues have been advising, that on which days and how frequently coitus is to be done, in the management of anovulatory infertility, with drugs like clomiphene. Moreover some sort of mental and physical relaxation/drugs before the act are also prescribed, with an advice...
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The pituitary gland produces hormones that play important roles in both the development and the homeostasis of the body. A deficiency of two or several of these pituitary hormones, known as combined pituitary hormone deficiency, may present in infants or children due to an unknown etiology and is considered congenital or idiopathic. Advancements in our understanding of pituitary development hav...
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BACKGROUND AND PURPOSE A deficiency of plasma protein C, both the hereditary and acquired types, is one cause of thromboembolic disease. Several antineoplastic agents have been reported to decrease the production of protein C in the liver by impairing either the absorption or metabolism of vitamin K, leading to acquired protein C deficiency. CASE DESCRIPTION We treated a young woman with prot...
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ژورنال
عنوان ژورنال: Vascular Diseases and Therapeutics
سال: 2017
ISSN: 2399-7400
DOI: 10.15761/vdt.1000108