Biomedical subjects

J Pták

Publications and source records attributed to J Pták.

6 recordsLinked to original sources

PubMed2006

[Hereditary form of thrombotic thrombocytopenic purpura].

BACKGROUND: Thrombotic thrombocytopenic purpura is characterized by microvascular platelet clumping resulting in thrombocytopenia, microangiopathic hemolysis, neurological abnormality, and renal dysfunction. Similar manifestations also occur in patients with the hemolytic uremic syndrome or other types of disorders. Recent studies demonstrate that severe deficiency of the von Willebrand factor cleaving metalloprotease, ADAMTS 13, causes thrombotic thrombocytopenic purpura. Aim of our study was to characterize gene defects causing inherited type of disease. METHODS AND RESULTS: We investigated nine patients with recurrent type of disease with familiar origin and twelve relatives. Samples were taken in a remission of disease. We measured activity of ADAMTS13 (vWF-CP) with modified method of the quantitative immunoblotting of degraded vWF multimers. Mutation screening was carried out by sequencing all 29 exons and flanking intron regions of the ADAMTS13 gene. Five distinct mutations were found. Three of them are novel. CONCLUSIONS: Mutation analysis of the ADAMTS 13 gene brought interesting results in eight patients. We found a one single base frameshift insertion, 4143insA in 8 of 9 unrelated individuals. This investigation represents an advantage in the differential diagnosis of disease since the thrombotic thrombocytopenic purpura phenotype in childhood can be variable and rapid detection of mutation is helpful for the recurrence prevention.

ADAM Proteins↗

PubMed2005

Immunoadsorption therapy and complement activation.

Complement activation was studied in six patients treated with immunoadsorption columns Ig-ADSOPAK for myasthenia gravis. Mean therapy duration was 18.6 months (range 4-28 months). Prior and after each procedure, concentrations of C3 and C4 were examined, hemolytic activity of complement by a classic pathway (CH50) was determined, as well as terminal complement complex (TCC). After each immunoadsorption procedure, a decrease of C3 and C4 was noted (median 21.19% and 19.68%, respectively). The CH50 and TCC follow-up showed statistically significant complement activation. Median of TCC accrual was 60.21% and median of CH50 decrease was 23.24%. No clinical manifestations of complement activation were present. With increasing number of procedures a marked decrease of TCC activation was observed in five patients, which was statistically significant in three of them (p < 0.05). This finding may indicate an immunomodulating effect of long-term adsorption therapy. With increasing number of procedures, an inhibition in complement system reactivity occurs. This result, however, has to be confirmed on a larger group of patients.

Adult↗

PubMed2000

[Plasma pH and anticoagulant solutions used in the plasmapheresis method of blood collection from donors].

The resulting pH of fresh frozen plasma for clinical use, collected by plasmapheresis from blood donors is influenced by the type of anticoagulant solution and its ratio with the donor's blood. The authors describe the use of three anticoagulant solutions with a different sodium citrate concentration and different ratios of donor blood. As compared with the physiological range of pH of the blood, the resulting pH value of the collected plasma, when using ACD-A and AB-16 solutions, varies within the range classified as acidosis, i.e. less than 7.36. When using a 4% sodium citrate solution the plasma pH value is in the area evaluated as alkalosis. The authors discuss indications for administration of fresh frozen plasma in clinically serious diseases and the influence of administration of this transfusion preparation on the acid-base balance as the transfusion recipients are threatened by the development of metabolic acidosis. Maintaining the pH value of fresh frozen plasma slightly above the physiological range of blood pH prevents in particular during massive plasma transfusions the possibility of deterioration of acidosis or its development.

Anticoagulants↗

PubMed2000

[Thrombotic thrombocytopenic purpura--still a therapeutic problem. Case report of a patient on long-term therapy].

Thrombotic thromboctopenic purpura is a rare multisystemic life threatening disease the treatment of which is still a serious problem. The most successful therapy is plasmapheresis where the whole plasma volume of the patient is replaced by fresh frozen plasma or cryosupernatant. The authors describe a 34-year-old patient with the chronic relapsing form of the disease and repeated cerebrovascular attacks with an ischaemic genesis with developed organic psychosyndrome. The only effective treatment of the patient are exchange plasmaphereses replacing plasma by cryosupernatant after the patient became refractory to fresh frozen plasma. The authors describe the clinical development of the disease, its treatment by plasmaphereses and mention various ways of a venous approach and associated problems. Ensuring a venous approach in patients with this disease is of vital importance and in the terminal stage of the disease it is extremely difficult. A solution, though temporary, is implantation of a vascular prosthesis, Diastat. The functioning of the implant in this disease is however greatly threatened by the development of thrombotic occlusions.

Adult↗

PubMed1999

[Personal experience with therapeutic plasmapheresis using the AS.TEC 204 separator].

The authors experience with Fresenius AS.TEC 204 separator for therapeutic exchange plasmaphereses in patients with different diagnoses. The describe the technique of separation, evaluation of advantages of the apparatus. Minor modifications made by the author improve the process of separation. Although the apparatus does not make erythrophereses possible so far, it proved useful for exchange plasmaphereses.

Humans↗

PubMedDate not supplied

Evans' syndrome in a child with diabetes mellitus.

A patient suffering from infantile-onset insulin-dependent diabetes mellitus is reported in whom immune pancytopenia (Evans' syndrome) developed at the age of 2 1/2 years. Hepatosplenomegaly, chronic lymphadenopathy, and elevated levels of immunoglobulins G and M were also present. The course of Evans' syndrome was fatal in this patient. The association of Evans' syndrome with other immune disorders is discussed.

Anemia, Hemolytic, Autoimmune↗