Seventy-four patients with β-thalassemia major were studied to test the hypothesis that a deficiency of protein C (PC) and antithrombin III (AT III), both antithrombotic proteins, could contribute to the pathogenesis of CNS thromboembolic lesions. In 70 patients, PC levels were found to be significantly lower than normal, whereas AT III activity was found to be lower only in 41 patients. The lowest values of PC and AT III were found in older splenectomized patients, a low PC value only was found in chronic hepatitis patients. Prothrombin time and fibrinogen were found to be particularly abnormal in patients with chronic hepatitis and without spleen. A relatively poor correlation was observed between PC and AT III (p < 0.02). PC correlated with age (p < 0.001), transfusional iron (p < 0.001) and ferritin (p < 0.001). It also correlated with serum albumin (p < 0.001), prothrombin time (p < 0.001) and fibrinogen (p < 0.02) and with serum transaminases (GPT) (p < 0.001). The same indexes correlated less significantly with AT III activity. Nevertheless, only 2 of our patients had CNS thromboembolic complications. It is probable that low clotting factors, hyperfibrinolysis and thrombocytopenia (which are common in chronic liver disease) could have the opposite effect on hemostasis from that of low levels of anticoagulant proteins such as PC and AT III.
Objective: To assess the plasma levels and action of arginine vasopressin (AVP) in patients with Cushing's disease. There are many reports that patients with Addison's disease have increased AVP levels associated with hyponatraemia and hypoosmolality, but none on the dynamics of secretion of this neurohormone during osmolality-based stimulation in patients with chronic hypercortisolism. Design and subjects: The plasma AVP concentration and the urinary and plasma osmolality after a 7.5-h water deprivation test (WDT) were evaluated in 13 patients with Cushing's disease and 15 normal (control) individuals. In patients with Cushing's disease we also assessed the urinary osmolality in response to 10 mg i.v. desmopressin (DDAVP) administered at the end of the WDT. Results: At the end of the WDT, urinary osmolality was significantly lower in patients with Cushing's disease (511.5Ϯ148.5 mOsm/l) than in the normal subjects (981.1Ϯ107.1 mOsm/l, P<0.001), whereas plasma osmolality did not differ between the two groups. Consequently, the urine/plasma osmolality ratio (U osm /P osm ) was lower in patients with Cushing's disease than in normal individuals (1.8Ϯ0.5 compared with 3.4Ϯ0.4, P<0.001). The AVP concentration also was greater (7.3Ϯ3.1 pmol/l) in those with Cushing's disease than in the controls (3.9Ϯ2.3 pmol/l, P<0.005). After administration of DDAVP to the hypercortisolaemic patients, the urinary osmolality attained (718.0Ϯ200.0 mOsm/l) was still lower than that in the normal group at the end of WDT (P<0.005). Conclusions: Patients with Cushing's disease presented higher AVP levels and smaller U osm /P osm ratios than normal subjects. After DDAVP, the patients with Cushing's disease were unable to concentrate the urine adequately. These data suggest that the kidney shows resistance to the action of both endogenous and exogenous AVP in patients with Cushing's disease.
We report on a 10-year-old boy with generalized deficiency of both NADH-methemoglobin reductase and aspartylglucosaminidase. Although the two enzymatic defects, both autosomal recessive traits, are associated with severe mental retardation, the patient was less retarded than his sister who had only aspartylglucosaminuria.
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