[Primary myelodysplastic syndrome in children]. / Sindrom primarne mijelodisplazije kod dece.

Primary MDS is a group of heterogenous clonal haematopoetic disorders. In a third of patients MDS terminates as acute myeloid leukaemia, usually resisitant to treatment, while the others succumb due to infections and haemorrhage. Conservative managements of MDS (chemotherapy, haematopoetic growth factors, modulation of cytokine network) are unsuccessful, while the bone marrow transplantation is the only definite treatment. We reviewed clinical and haematological presentations, frequency of dysplastic features, histological and cytogenetic findings in 29 children with primary MDS. Indications for haematological evaluation in our patients were symptoms and signs of isolated or combined cytopenias, fever of unknown origin and frequent infections. Hepatosplenomegaly was found in 19 (65%) patients, while this pattern was found in 10% of adult patients. Normochromic anaemia was found in 25 (86%) patients and thrombocytopenia in 23 (76%). Patients presenting pancytopenia had the lowest probability of survival. Degree of dysplasia, histology and kariotype of bone marrow had no influence on survival rates. Prognostic factors in paediatric MDS are of limited significance, as MDS in children is an absolute indication for bone marrow transplantation.

Non-Hodgkin's lymphoma of the uterus and CNS.

We report a case of a non-Hodgkin's lymphoma of the uterus and central nervous system in an 8-year-old female. The neurologic signs included blurred vision, neck stiffness, and walking difficulties but no abdominal problems. She deteriorated further, and repeated lumbar punctures revealed the presence of malignant cells in the cerebrospinal fluid. A repeated ultrasound scan of the abdomen demonstrated a markedly enlarged uterus. Biopsy revealed B-cell non-Hodgkin's lymphoma. Treatment according to the Berlin-Frankfurt-Münster protocol was initiated, but she developed hyperventilation syndrome and required mechanical ventilation. Her condition improved after 1 week but then deteriorated again, and despite additional chemotherapy she developed myelosuppression and septicemia with multiresistant Klebsiella pneumoniae and eventually died 13 months after her first admission to the hospital. No clinical or laboratory signs of relapse were evident at the time of death.

Hb Volga [beta 27(B9)Ala-->Asp]: detection of a de novo mutation by Ava II digestion of PCR-amplified DNA.

Hb Volga was observed as a de novo mutation in a 5-year-old boy from Tuzla, Bosnia and Hercegovina, who exhibited severe Heinz body hemolytic anemia. The variant was detected and quantitated at 10.6% by a reversed phase high performance liquid chromatography (HPLC) procedure. Structural characterization was done by HPLC analysis. An easier approach for the detection of Hb Volga by Ava II digestion of polymerase chain reaction-amplified DNA is described.

A specific, fluorescent activity staining procedure applied to plasma and red blood cells in congenital factor XIII deficiency.

The activity staining procedure introduced by Stenberg & Stenflo (1979) has been applied to studies on human blood transamidases (transglutaminases; endo-gamma-glutamine:epsilon-lysine transferases; e.g. factor XIII). The technique combines agarose gel electrophoresis with activity staining based on the transamidase catalysed incorporation of monodansylthiacadaverine (N-(5-amino-3-thiapentyl)-5-dimethylamino-1-naphtalenesulfonamide) into casein. The method permits detection of plasma factor XIII activity down to 1% of the normal adult standard. The technique was used on plasma from two patients with tentative congenital plasma factor XIII deficiency (based on clot solubility). No activity was found in platelet poor as well as in platelet rich plasma which confirmed the diagnosis. In the erythrocytes studied in genetic determinations of the plasma and red blood cell transamidases. Using immunoelectrophoresis, the plasma factor XIII b subunit was found to be 43% and 44% of the concentration in normal standard plasma.

[Immunoelectrophoretic method for the determination of factor VIII-related antigens]. / Imunoelektroforetska metoda u odredivanju F. VIII srodnog antigena.

Immunological examination of F VIII related antigen gave some new information on the nature of congenital defects of F VIII, in haemophilia A and von Willenrand's disease. Besides classic method in diagnostics of von Willebrand's disease, the determination of F VIII related antigen can be used as a diagnostic criterium in distinguishing von Willebrand's disease from some mild forms of haemophilis, as well as in detection of haemophilia carrier. In addition, the study on the relationship of immunological value of F VIII related antigen and biological activity of F VIII offers more data on the possibility of detection of so-called "hypercoagulability" and states proceeding thrombosis. The method for determination of F VIII related antigen (Rocket electrophoresis--Laurel) as well as the values of F VIII in health persons of our population is described in this paper.

[Diagnosis of von Willebrand's disease]. / Danasnje mogucnosti dijagnostike von Willebrand-ovog oboljenja.

Diagnosis and differential diagnosis of von Willebrand's disease was a special problem. Criteria up to date: prolonged bleeding time, reduced platelet adhesiveness, decreased F. VIII coagulant activity, as well as a particularly behaviour after the infusion of F. VIII, were not sufficient to differentiatie this disease from other congenital disorder of F. VIII. Recent investigations, introducing the immunological methods for determination of F. VIII--related antigen, as well as the investigation of ristocetin induced platelet aggregation, give the new approach in the diagnosis of von Willebrand's disease. Authors presented preliminary results of investigations of F. VIII--related antigen in the patients with von Willebrand's disease, as well as the results of investigation of the patients with hemophilia A and normal subjects, as a control group.