Acute complete splenic infarction in a patient with Hirschsprung's disease and literature review of complete splenic infarction.

Here we report a case of Hirschsprung's disease presenting with acute complete splenic infarction due to thrombus in the splenic vena. MTHFR C677T (methylenetetrahydrofolate) gene homozygote mutation was a risk factor for thrombosis. According to our knowledge, this is the first report for a Hirschsprung's disease patient with acute complete splenic infarct due to isolated splenic vein thrombosis accompanied by MTHFR C677T gene homozygote mutation.

Rational use of the PFA-100 device for screening of platelet function disorders and von Willebrand disease.

Two hundred and five patients referred for evaluation of platelet functions and 126 healthy controls were tested with the PFA-100 instrument. A cut-off value of 150 s for collagen/epinephrine (CEPI) closure time (CT) produced most acceptable sensitivity (90%), specificity (85.2%), and positive (82.6%) and negative (91.6%) predictivity values for screening of platelet function disorders and von Willebrand disease (vWD). All patients with vWD and Glanzmann thrombasthenia could be detected by PFA-100. Both CEPI and collagen/adenosine diphosphate (CADP) CTs were elevated in all of these cases. Sensitivity of the device was 81.6% for patients with platelet secretion defects. CADP CT was normal in 63.9% of the patients in this subgroup. Specificity (47%) and positive predictivity (57%) of the instrument were diminished in patients with low hemoglobin concentrations. Depending on the results, an algorithm was developed for screening of platelet function disorders and vWD with PFA-100.

Is activated factor VII associated with retinal vein occlusion?

AIM: To determine whether a newly identified thrombophilia factor, activated factor VII (FVIIa), is associated with retinal vein occlusion (RVO). METHODS: 54 consecutive cases with RVO seen between March and September 1999 were included in the study. 22 cases had central retinal vein occlusion (CRVO) and 32 had branch retinal vein occlusion (BRVO). Ophthalmoscopic examination with detailed medical history was followed by blood analyses for liver and renal functions, cholesterol, triglycerides, complete blood count, and coagulation factors including protein C activity, free protein S, antithrombin III, fibrinogen, and factor VIIa (FVIIa). Data were compared with those of the control group, composed of 19 cases under ophthalmological follow up for refractive errors, presbyopia, or senile cataract. RESULTS: Hypertension was highly prevalent in cases with BRVO. Complete blood count, and liver and kidney function tests were within normal limits in the study group. Two cases had low protein C activity, and one had low free protein S. FVIIa levels were significantly higher in the RVO group than in the control group (p=0.0004). There was no significant difference in FVIIa levels between the CRVO and BRVO groups (p=0.51). CONCLUSION: No haematological parameter except FVIIa differed significantly from that of the control group. Elevation of FVIIa level may play a part in the pathophysiology of both CRVO and BRVO.

Cytokines, endothelium, and adhesive molecules in pathologic thrombopoiesis.

Clonal thrombocytosis (CT) associated with myeloproliferative disorders (MPD) is believed to be secondary to autonomous unregulated platelet production. Secondary or reactive thrombocytosis (RT) can be observed in a number of clinical circumstances and may be related to persistent production of some thrombopoietic factors acting on megakaryocytes (MK). The goal of this study is to assess the serum concentrations of these cytokines in control subjects and patients with MPD associated with thrombocythemia, RT, and autoimmune thrombocytopenic purpura (ATP). Eleven patients with MPD, five with chronic myeloid leukemia (CML), three with polycythemia vera (PCV), two with essential thrombocythemia (ET), one with myelofibrosis, 15 with RT, eight with ATP, and 12 healthy volunteers were enrolled in the study. Serum interleukin (IL)-1beta, IL-6, tumor necrosis factor-alpha (TNF), fibronectin, intracellular adhesion molecule-1 (ICAM-1), and thrombomodulin (TM) were measured in these groups. Interleukin- 1beta, IL-6, and TNF levels were high in patients with RT and ATP, suggesting that these cytokines act on early uncommitted progenitors, promoting commitment along the MK lineage and leading to thrombocytosis or compensation for thrombocytopenia. TM was significantly increased in patients with MPD compared to all other groups, probably indicating the presence of subclinical endothelial damage. Fibronectin levels were high in MPD and RT patients. This finding can be secondary to high platelet turnover in these patients. We found that ICAM-1 levels were high in patients with clonal thrombocytosis. ICAM-1 can be one of the factors initiating the events ultimately leading to clonal thrombocytosis. Thrombocythemia associated with MPD is an autonomous phenomenon not regulated by cytokines.

Cardiac and great vessel thrombosis in Behçet's disease.

Behçet's disease (BD) is a chronic relapsing systemic vasculitis in which orogenital ulceration is a prominent feature. The disease affects many systems and causes hypercoagulability. We present a 27-year-old male patient who exhibited widespread great vessel thrombosis including right atrial and ventricular thrombi in the setting of right-sided infectious endocarditis and orogenital aphthous ulcerations and erythema nodosum due to BD. We reviewed the enigmatic prothrombotic state of BD, and discuss our prior experiences in this field.

Mature ovarian teratoma as a possible cause of fever and clinical exacerbation in Behçet's disease: a case report.

Abstract Behçet's disease (BD) is a chronic relapsing systemic vasculitis of unknown etiology. BD is very rarely associated with neoplastic diseases. We report the case of a 39-year-old woman who had been treated for BD for 3 years. She presented with relapsing oral and genital lesions and persistent high-grade fever which had lasted for 1 month. The possible cause of the exacerbation of BD and fever in this patient was a mature ovarian teratoma. To our knowledge this is the first report of a patient with BD associated with a ovarian teratoma.

Circulating thrombomodulin, thrombospondin, and fibronectin in acute myeloblastic leukemias.

In this study, soluble thrombomodulin (TM) was measured as an indicator of endothelial injury in acute myelocytic leukemia (AML) together with fibronectin (FN) and thrombospondin (TS). The study group comprised of 17 (6 men, 11 women; aged 34 +/- 10 years; range 21-61 years) newly diagnosed AML patients. There was infection in 6 patients. Twelve (4 men, 8 women; aged 31 +/- 11 years; range 18-55 years) healthy subjects were studied as the control group. Plasma soluble TM levels were significantly higher in AML patients than in the healthy control group (116.6 +/- 13.7 vs 37.2 +/- 1.75 ng/ml, respectively (mean +/- SEM), p < 0.01). Plasma FN levels were found to be significantly higher in AML patients compared to the control group (15.9 +/- 2.69 vs 8.1 +/- 2.46 ng/ml, respectively (mean +/- SEM). p < 0.01 ). Plasma FN levels in infected patients were significantly lower than in non-infected patients (6.47 +/- 1.3 vs 21.0 +/- 3.1 ng/ml, respectively (mean +/- SD), p < 0.01). Plasma TS levels in the patient group were significantly lower than in the control group (20.6 +/- 1.45 vs 120.8 +/- 18.2 ng/ml, respectively (mean +/- SEM), p < 0.01). In one patient with M7 megakaryoblastic leukemia who also had a high platelet count, plasma TS levels were significantly higher than that in other patients.

Evaluation of the haemostatic system during ketoacidotic deterioration of diabetes mellitus.

Clinical observations have indicated the frequent development of thrombotic complications during diabetic ketoacidosis (DKA). This study aimed to examine whether haemostatic changes that could lead to a thrombotic tendency occur during ketoacidosis. Plasma levels of in vivo haemostatic markers reflecting activation degrees of the coagulation system, fibrinolytic system, platelets and endothelium were assayed in 34 patients with DKA, both at diagnosis and 1 week after recovery. We found coagulation system and platelet activation and endothelial injury/activation in the patients at diagnosis of DKA. Although significant improvements were observed after recovery, only platelet activity was completely normalized. Fibrinolytic activity was also increased, both at diagnosis and after recovery, compared to the control group. However, although coagulation activity was prominently increased at diagnosis compared to the recovery period, there was no change in fibrinolytic activity in the same periods; on the contrary, the fibrinolytic capacity of the endothelium was diminished at diagnosis of DKA compared to the recovery period, suggesting the presence of relative hypofibrinolysis during DKA. Indications for a role of hyperglycaemia in the emergence of haemostatic disturbances during DKA were observed.