The aims of the study were to evaluate the clinical, radiological and ultrasonographical images of knee joints in children with severe haemophilia and von Willebrand's disease, to determine the correlation between these images and to assess the usefulness of ultrasonography (USG) in evaluating the intensity of haemophilic arthropathy. Thirty-nine boys were included in the study, all of them with a past history of knee bleeds. The average age of the children was 10.02 +/- 3.01 years. In patients with slight (1-3 points) and moderate (4-7 points) radiological changes in knee joint bones, an increase in synovial fluid, considerable hypertrophy and inflammation of the synovium were observed in USG. In haemophilic patients with severe (8-13 points) bone changes, the amount of fluid was usually normal and there was slight inflammation but considerable hypertrophy of the synovium. Radiological evaluation of haemophilic arthropathy was made according to the Pettersson classification. A good correlation between the degree of cartilage damage in USG and the progression of bone changes in radiographs was found. Cartilage and bone damage progressed with the increase in the number of intra-articular haemorrhages into the knee joint. In our opinion USG is useful in evaluating the fluid, synovium and cartilage of joints in haemophiliacs.

SummaryThe genetic basis of Diamond-Blackfan anaemia (DBA), a congenital erythroid hypoplasia that shows marked clinical heterogeneity, remains obscure. However, the fact that nearly one-quarter of patients harbour a variety of mutations in RPS19, a ribosomal protein gene, provides an opportunity to examine whether haplo-insufficiency of RPS19 protein can be demonstrated in certain cases. To that end, we identified 19 of 81 DBA index cases, both familial and sporadic, with RPS19 mutations. We found 14 distinct insertions, deletions, missense, nonsense and splice site mutations in the 19 probands, and studied mutations in 10 patients at the RNA level and in three patients at the protein level. Characterization of the mutations in 10 probands, including six with novel insertions, nonsense and splice site mutations, showed that the abnormal transcript was detectable in nine cases. The RPS19 mRNA and protein in CD34 + bone marrow cells identified haploinsufficiency in three cases predicted to have one functional allele. Our data support the notion that, in addition to rare DBA patients with the deletion of one allele, the disease in certain other RPS19 mutant patients is because of RPS19 protein haplo-insufficiency.

Until 1983, results of treatment of acute myelogenous leukemia (AML) in Poland with different regimens were very poor. In 1983, the Polish Pediatric Leukemia/Lymphoma Study Group introduced a unified treatment protocol -a modified version of BFM-83 protocol. This led to an increase in the curability of AML from 15% to approximately 32%. In 1994, a modification was made: the high-risk patients (45% blasts in bone marrow on day 15 of therapy and all M5 cases) received two additional cycles with intermediate-dose cytarabine (ID-ARAC). This led to a nonsignificant improvement in the 5-year event-free survival (EFS) rate from 32 to 36%. A new treatment protocol employing idarubicin in place of daunorubicin was introduced in 1998 and produced better initial responses, increase in the number of patients attaining remission after induction therapy and proportional increase of standard-risk patients.The probability of 5-year EFS (pEFS) for the whole group of patients increased from 36 to 47%. In standard-and high-risk groups, the 5-year pEFS was 62 and 33%, respectively. The probability of 5-year disease-free survival was 58% in the whole group, and there were no differences between risk groups. Unsatisfactory treatment results in children classified into the high-risk group are principally due to the low remission rate.

Forty-four children with autoimmune haemolytic anaemia (AIHA) are described: 31 had acute, subacute or chronic disease with warm autoantibodies and 13 had acute or chronic anaemia with cold autoantibodies. The commonest forms were the acute and subacute types with warm autoantibodies and these were more frequent in young children, while chronic AIHA occurred mainly among children at puberty. In about 16% the anaemia was accompanied by a chronic disorder but in over 50% the anaemia was preceded by an acute infection or immunization. The former gave rise mainly to chronic anaemia, but the latter was associated with the acute and subacute forms. In general the prognosis was good and death was never caused by anaemia per se. The prognosis was worse in patientw with clinical features of thrombocytopenia and bleeding and with the immunological findings of free autoantibodies in the serum and a positive direct antiglobulin test. In acute and subacute forms, treatment with corticosteroids and sometimes with blood transfusions was effective. In chronic forms of the disease it was often necessary to give additional immunosuppressive drugs or/and to perform a splenectomy.

These data demonstrate that anti-D infusion caused changes in the cytokine network and raises the question of whether the therapeutic effectiveness of anti-D is related to its immunomodulating properties.