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Biomedical subjects

J Musiał

Publications and source records attributed to J Musiał.

At least 19 recordsLinked to original sources
PubMed2006

Valine/Leucine247 polymorphism of beta2-glycoprotein I in patients with antiphospholipid syndrome: lack of association with anti-beta2-glycoprotein I antibodies.

In antiphospholipid syndrome (APS) the presence of anti-beta2-glycoprotein I (beta2GPI) antibodies is strongly associated with thromboembolic complications. It has been suggested that the common beta2GPI Valine/Leucine247 (Val/Leu247) polymorphism could be found more commonly in APS and might influence the generation of anti-beta2GPI antibodies. Therefore we studied beta2GPI Val/Leu247 single-nucleotide polymorphism (SNP) by PCR in 338 patients with various autoimmune diseases (46 with secondary and 84 with primary APS) and 147 sex and age-matched healthy controls. In all patients lupus anticoagulant, anticardiolipin and anti-beta2GPI antibodies (both IgG and IgM) were also determined. All patients and controls were Caucasians. Frequencies of the SNP genotypes in patients did not depart from genetic equilibrum and did not differ from those found in controls. There was also no association between the presence of beta2GPI Val/Leu247genotypes and the presence or absence of lupus anticoagulant, anticardiolipin antibodies, anti-beta2GPI antibodies or clinical APS symptoms in all patients studied. In conclusion, among the exclusively Caucasian, Polish population of autoimmune patients beta2GPI Val/Leu247SNP has the same distribution as in healthy subjects and does not influence the production of anti-beta2GPI antibodies.

Adult↗
PubMed2005

Aspirin resistance.

Treatment failures occur with any drug and aspirin is no exception. Evidence is growing to indicate that there are subpopulations that do not respond to antithrombotic action of aspirin. The term 'aspirin resistance' has been used to describe a number of different phenomena, including inability of aspirin to: (i) protect against cardiovascular events despite its regular intake; (ii) to affect various laboratory tests, reflecting platelet activity. Research on aspirin resistance yielded interesting results in clinical pharmacology and pharmacogenetics. Future studies will show whether genotyping for polymorphisms might be of value in everyday clinical use of aspirin. Present data indicate that in survivors of recent myocardial infarction or unstable angina, patients receiving coronary artery bypass grafts, as well as in subjects with hypercholesterolemia, aspirin resistance has to be considered when implementing antithrombotic therapy. However, in individual patients the available laboratory tests are of no particular use to predict reliably the clinical outcome or to guide in making therapeutic decision. Prospective clinical trials seem necessary to reach such conclusions.

Anti-Inflammatory Agents, Non-Steroidal↗
PubMed2004

[Hodgkin's disease as a cause of pyrexia in a patient with valvular heart disease and suspicion of infective endocarditis--a case report].

A case of a 75-year-old male with a history of aortic valve disease hospitalised due to pyrexia of unknown origin is reported. Initially the patient was diagnosed with infective endocarditis due to persistent pyrexia, history of valve disease, single positive blood culture and echocardiographic scan suggesting infective endocarditis. Treatment with two strong antibiotics did not bring expected amelioration. Patient's hemodynamic status remained unchanged. After several weeks of hospitalization X-ray scan revealed involved hilar lymph nodes, which was confirmed by CT scan of the chest. The patient was diagnosed with Hodgkin's disease. He died three months after initiation of chemotherapy.

Aged↗
PubMed2001

Mutation A1298C of methylenetetrahydrofolate reductase: risk for early coronary disease not associated with hyperhomocysteinemia.

Diminished activity of 5,10 methylenetetrahydrofolate reductase (MTHFR), a regulatory enzyme of homocysteine metabolism, may predispose to coronary artery disease (CAD). In a case-control study we determined the prevalence of two common MTHFR polymorphisms, C677T and A1298C, in 161 male patients under the age of 50 years with angiographically documented CAD and compared it to that in 211 healthy controls. Genotyping was also performed in a random population sample, consisting of 149 men and 121 women at an average age of 40 years. The studied group had classic risk factors of atherosclerosis but did not differ in fasting plasma homocysteine, folic acid, and vitamin B12 levels in either the control group or population sample. The frequency of the 1298C allele was significantly higher in CAD (0.304) than in controls (0.199) or the population sample (0.235). Allele 1298C showed a significant association with early-onset CAD both in homozygotes and in heterozygous carriers. These findings were further supported by comparisons with the population sample. Homozygosity for allele 677T showed a tendency to associate with CAD. Allele 1298C of MTHFR is associated with early-onset CAD (carriers- RR = 1.71, 95% CI: 1.13-2.59; homozygotes- RR = 3.09, 95% CI: 1.36-7.02), even when blood homocysteine levels are not elevated.

Adolescent↗
PubMed2001

Treatment with simvastatin and low-dose aspirin depresses thrombin generation in patients with coronary heart disease and borderline-high cholesterol levels.

Aspirin and statins are beneficial in coronary heart disease across a broad range of cholesterol levels. We assessed the effects of low-dose aspirin (75 mg daily) on thrombin generation in patients with coronary heart disease and average blood cholesterol levels. We also investigated whether in patients with borderline-high cholesterol level who have been already taking aspirin, additional treatment with simvastatin would affect thrombin generation. Seven-day treatment with low-dose aspirin decreased thrombin generation ex vivo only in patients with total cholesterol < or = 5.2 mmol/L. In patients with higher cholesterol levels aspirin had no effect. In these patients, already taking low-dose aspirin, additional three-month simvastatin treatment resulted in a reduction of thrombin generation. This demonstrates that low-dose aspirin depresses thrombin generation only in subjects with desirable blood cholesterol levels, while in others, with borderline-high cholesterol, thrombin formation is being reduced following the addition of simvastatin.

Adult↗
PubMed2001

[Reynolds syndrome: the combination of scleroderma and primary biliary cirrhosis. Case report].

A 57-year--woman with Reynolds syndrome (primary biliary cirrhosis and scleroderma) is reported. Diagnosis of primary biliary cirrhosis is based on clinical findings, laboratory tests results and histological result of liver biopsy. Scleroderma was confirmed by anticentromere antibodies presence, and typical skin lesions. Although, antimitochondrial antibodies are very typical for PBC (primary biliary cirrhosis), in this case the were not found.

Antibodies↗
PubMed2001

[Intraalveolar hemorrhage as a cause of acute respiratory failure in catastrophic antiphospholipid syndrome].

We report the case of a catastrophic antiphospholipid syndrome (CAPS), which developed without a known cause in a 38-year old man. Primary antiphospholipid syndrome was diagnosed one year earlier. Clinical manifestations of CAPS were dominated by diffuse intraalveolar haemorrhage leading to acute respiratory failure and renal failure. Syndrome of multiorgan failure developed despite the treatment with plasmapheresis, high doses of glycocorticosteroids, an intravenous gammaglobulins. The patient died 6 weeks after the admission.

Adult↗
PubMed2000

A low dose of aspirin (75 mg/day) lowers thrombin generation to a similar extent as a high dose of aspirin (300 mg/day).

This randomized, double-blind, parallel-group study was performed to assess the effect of 1-week treatment with 75 and 300 mg aspirin on thrombin generation. Eighteen healthy men, aged 20-25 years, entered the study. After 1 week of aspirin treatment with a daily dose of 75 mg, bleeding time became prolonged by 102 s (P = 0.02), and it was prolonged by 165 s with 300 mg (P = 0.0005). None of the doses of aspirin affected peripheral blood concentrations of prothrombin fragment 1+2 and fibrinopeptide A. At the site of microvascular injury, 75 mg aspirin led to a marked, about 60%, reduction in the total amount of thrombin generated (P = 0.04). A similar decrease was observed after 7-day treatment with 300 mg aspirin (P = 0.009). We conclude that the thrombin-lowering action of aspirin in the range between 75 and 300 mg daily given for 7 days is not dose dependent.

Adult↗
PubMed1999

Inhibition of thrombin generation by simvastatin and lack of additive effects of aspirin in patients with marked hypercholesterolemia.

OBJECTIVES: To assess the effects of aspirin compared with simvastatin on thrombin generation in hypercholesterolemic men, and to establish whether the reduction of elevated blood cholesterol by simvastatin would affect the action of aspirin on thrombin formation. BACKGROUND: Aspirin inhibits thrombin formation, but its performance is blunted in hypercholesterolemia. By virtue of altering lipid profile, statins could be expected to influence thrombin generation. METHODS: Thirty-three men, aged 34 to 61 years, with minimal or no clinical symptoms, serum total cholesterol >6.5 mmol/liter and serum triglycerides <4.6 mmol/liter, completed the study consisting of three treatment phases. First, they received 300 mg of aspirin daily for two weeks (phase I), which was then replaced by simvastatin at the average dose of 24 mg/d for three months (phase II). In phase III, aspirin, 300 mg/day, was added for two weeks to simvastatin, the dose of which remained unchanged. Thrombin generation was assessed: 1) in vivo, by measuring levels of fibrinopeptide A (FPA) and prothrombin fragment 1+2 (F1+2) in venous blood; and 2) ex vivo, by monitoring the rates of increase of FPA and F1+2 in blood emerging from standardized skin incisions of a forearm. A mathematical model was used to describe the kinetics of thrombin formation at the site of microvascular injury. RESULTS: Two-week treatment with aspirin had no effect on thrombin markers in vivo, while ex vivo it depressed the total amount of thrombin formed, though not the reaction rate. After simvastatin treatment, serum cholesterol decreased by 31% and LDL cholesterol by 42%, while thrombin generation became markedly depressed. In venous blood, FPA was significantly reduced. Concomitantly, the initial thrombin concentration and total amount of thrombin generated decreased significantly. Addition of aspirin to simvastatin (phase III) had no further effect on any of these parameters. CONCLUSIONS: In men with hypercholesterolemia, lowering serum cholesterol level by a three-month simvastatin treatment is accompanied by a marked reduction of thrombin generation both at basal conditions in venous blood and after activation of hemostasis by microvascular injury. Once blood cholesterol became reduced, adding aspirin to simvastatin did not enhance dampening of thrombin formation.

Adult↗
PubMed1999

[Factor V leiden and venous thromboembolism in a woman taking second generation oral contraceptives: a case report].

The most common cause of thrombophilia is a point mutation in factor V gene (G1691A), leading to factor V Leiden synthesis, which is resistant to the inhibition by activated protein C. Administration of oral contraceptives is associated with an increased risk of venous thromboembolism in carriers of factor V Leiden mutation. We describe here a case of 44-year-old woman who developed right popliteal and superficial deep vein thrombosis after a 2-month use of a contraceptive which consists of 0.15 mg levonorgestrel and 0.03 mg ethynylestradiol. The mutation G1691A of factor V gene was detected with the polymerase chain reaction. No other inherited or acquired risk factors for thrombosis was found in this patient. Treatment with low molecular weight heparin and subsequently, oral anticoagulation was effective. Women with factor V Leiden should be discouraged from taking oral contraceptives. Screening for factor V Leiden in these women appears to be useful and contribute to the prevention of thrombosis in risk situations.

Adult↗
PubMed1999

[Diagnostic difficulties in cases with spurious thrombocytopenia].

Pseudothrombocytopenia (PTP) is a rare laboratory phenomenon of falsely low platelet count in the presence of anticoagulant, most often EDTA. It may be confused with true thrombocytopenia, leading to the refusal of further invasive procedures and inappropriate diagnosis and treatment. PTP is due to presence of antiplatelet antibodies--agglutinins--usually temperature dependent. Here we present two cases of such spurious thrombocytopenia and discuss the differential diagnosis.

Adolescent↗
PubMed1999

[Fabry's disease--late diagnosis in men with chronic nephropathy and skin changes].

We report a case of Fabry's disease, diagnosed in a 39-year-old patient treated for 4 years because of glomerulonephritis. The disease manifested itself by the presence of typical petechiae-like skin lesions in the bathing trunk area (angiokeratoma), eye changes, paresthesia, and--in additional investigations--mild proteinuria, lowered creatinine clearance, along with changes in the central nervous system. A biopsy of the kidney revealed the presence of foamy cells in all glomeruli, and in electron microscopy multilamellar bodies (zebra bodies). The diagnose of the disease was confirmed by a marked decrease in leucocyte alpha-galactosidase activity. An early diagnosis of non-inflammatory character of Fabry's disease allows to avoid an unnecessary immunosuppressive treatment.

Adult↗