Diminished adhesiveness of platelets to collagen in a patient with factor XII deficiency.
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Biomedical subjects
Publications and source records attributed to J Aznar.
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3 cases of Fletcher factor deficiency in a family not related to the 6 families already published (Hathaway et al 1965, Hattersley & Hayse 1970, Abildgaard & Harrison 1974) are studied. In the family described here, 3 of 4 siblings have a Fletcher factor level of less than 1% and the fourth has a level of 46%; the Fletcher factor level in the father is 48% and in the mother 38%. This suggests an autosomal recessive transmission. Clinically they do not present spontaneous bleedings and only one of the siblings required a unit of blood after an amygdalectomy. It is also of interest to emphasize that 3 of the siblings suffered from congenital multiple arthrogryposis and that 2 of them presented the arthrogryposis together with the Fletcher factor deficiency, a circumstance which could have been favored by the consanguinity of the parents. The fact that the family described here is white and of Mediterranean origin contradicts the idea that there exists a special predisposition among members of the black race for this disease.
The incubation of human fibrinogen with plasmin gives rise to an early degradation product with a molecular weight of 63,000, calculated by polyacrylamide-gel electrophoresis sodium dodecyl sulfate (PAGE-SDS); this product is resistant to the action of the plasmin for short incubation times and represents 1 +/- 0.2% of the original quantity of fibrinogen. The fragment was isolated from the incubated mixture by gel filtration and has a no-identity reaction with fibrinogen fragment D against fibrinogen fragments D antiserum. The reduction gives rise to three polypeptidic chains with molecular weights of 36,000, 17,000 and 10,000 (calculated by PAGE-SDS). Study of the carbohydrate content of these polypeptidic chains from the reduced 63,000 MW fragment indicates that there is only one electrophoretic region which contains periodic acid-Schiff (PAS) positive material. As the 63,000 MW fragment has a reaction against fibrinogen fragment D antiserum and also contains PAS positive material, according to Pepper and co-workers, it can be taken to arise from the HOOC-terminal region of fibrinogen.
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A patient with Urbach-Wiethe disease was studied, with special attention given to the analysis of the skin and mucosal lesions. An eosinophilia in the peripheral blood and a diabetic tendency were found. The skin papules and mucosal plaques contain abundant lipids, especially cholesterol (66 percent) and phospholipids (27 percent).
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It was observed that the acetylsalicylic acid "in vitro" (final concentration 10(-4) M) as well as "in vivo" (1 g of aspirin) caused a platelet phospholipids variation which basically consisted of: 1. A diminution of the phospholipids/proteins rate of 22%. 2. A reduction of sphingomyelin "in vivo" of 27.66% and "in vitro" of 16.82%. 3. An increase in phosphatidyl choline "in vivo" of 12.24% and "in vitro" 10.28%. The possible effects that these changes might have on the platelet function are evaluated.
The effect of dipyridamole on platelet phospholipids has been studied. After the platelet incubation with dipyridamole, a 38% reduction in the concentration of the sphingomyelin and a 21% increase in phosphatidyl choline were produced.
The amniotic fluid (AF) when incubated with the patient's own plasma diminishes the lytic activity of the plasma. It is suggested that this inhibition is due to the presence of fibrinolytic inhibitors in the AF. The inhibitors rate increases as pregnancy advances. Evaluating these inhibitors in a group of 65 women before and after the 38th week of pregnancy, a higher rate of fibrinolytic inhibitors is found after the 38th week. The said differences are statistically significant. For the moment it does not seem that the increasing of the inhibitors in the last part of pregnancy might be used as a fetal maturity test.
A streptokinase resistance test (SK-RT) was studied on a group of people from the Mediterranean coast of Spain. It was found that 87.5% of the studied population required a dose of 250,000 U or less to obtain an adequate neutralization of the circulating antibodies. In none of the cases was the required dose higher than 500,000 U. The average dose was of 132,969 U (SD = 102,269). No significant differences were found between the dose required for men and that required for women. A significantly inferior dose to the average was, however, required for people over 50 years old (x = 112,280, SD = 100,459).