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Biomedical subjects

R Lintula

Publications and source records attributed to R Lintula.

9 recordsLinked to original sources

A new congenital dyserythropoietic anaemia.

A new dominantly inherited dyserythropoietic anaemia is described. In the bone marrow, many of the nonspecific morphological characteristics described in congenital dyserythropoietic anaemias were seen; however, dysmorphic cells were rare. The acidified serum test was positive with one out of 17 sera tested; the negative sera included two that had haemolysed HEMPAS erythrocytes in the acid Ham test. Anti-i-agglutination was negative. No aberrations of red cell membrane protein glycosylation were observed. Serum cholesterol was low. Bilirubin conjugation was deficient but icterus was resolved by treatment with phenobarbital.

Adult

Correlation between bone marrow karyotype and the occurrence of erythroblast micronuclei and nuclear budding in patients with myelodysplastic syndromes.

147 patients with myelodysplastic syndromes were investigated for the presence of micronuclei and nuclear budding in bone marrow erythroblasts. The patients were divided into subgroups on the basis of bone marrow karyotype, 31 healthy bone marrow donors constituted a control group. Patients with monosomy 7 or 7q- and patients with major karyotypic abnormalities (MAKA) had significantly more erythroblasts with micronuclei and nuclear budding than the control group. Patients with a 5q- chromosome as the sole karyotypic aberration had more micronuclei than the controls. For other patients with MDS the differences were statistically nonsignificant.

Adolescent

Erythroid and granulocyte-macrophage colony formation in myelodysplastic syndromes.

Colony formation by haematopoietic progenitors from the bone marrow was studied in 44 patients with a myelodysplastic syndrome. Erythroid progenitors BFU-E and CFU-E were cultured in methyl cellulose, and granulocyte-macrophage precursors CFU-GM in agar. 3 of 32 patients showed normal numbers of BFU-E colonies; in all the other cases the number of these colonies was below the normal range. CFU-E colony formation was subnormal in all cases. 23 of 44 patients grew normal numbers of colonies and clusters in CFU-GM cultures. These patients had refractory anaemia with ring sideroblasts (FAB-classification) or 5q-karyotype anomaly in the marrow. Patients lacking both of these findings exhibited reduced colony formation or excessive growth of colonies and/or clusters, with few exceptions. In conclusion, we found that erythroid colony formation was defective in all cases. Normal granulocyte-macrophage colony formation was associated with refractory anaemia with ring sideroblasts or the presence of 5q- karyotype anomaly.

Adult

The 5q- chromosome in preleukaemia and acute leukaemia.

13 patients with the 5q- chromosome are described. In 6 patients the 5q- chromosome was the sole aberration. 10 patients had preleukaemia, 1 a preleukaemia-like syndrome after treatment of polycythaemia vera, a 2 acute myeloid leukaemia. The prognosis was especially poor in terms of survival in preleukaemic patients with 3 or more affected chromosomes: none of these 6 patients survived for more than 6 months. In 4 patients the haematological picture resembled 'the 5q- syndrome'. In the long arm of chromosome No 5 deletions of 3 different kinds were detected. They were named according to the size of the 5q- marker: the short type (10 patients), the intermediate type (1 patient) and the long type (2 patients). There was no clear correlation between the clinical picture and the type of deletion. While the break points cannot always be exactly defined, our data and those reviewed from the literature suggest that the loss of a segment of regions 5q2 or 5q3 is common to all or most deletions.

Acute Disease

Platelet function in preleukaemia.

Platelet function was studied in 17 patients with preleukaemia and the results were compared with those of 28 patients with other chronic myeloproliferative disorders. The test pattern included bleeding time (Ivy), platelet retention (Hellem II), PF-3 activity and availability after exposure to ADP and kaolin, and ADP-, epinephrine-, collagen- and ristocetin-induced aggregations. Platelet function was frequently impaired in patients with preleukemia. The defects were similar to those found in other myeloproliferative disorders. The most consistent finding was defective aggregation. Patients with thrombocytosis and/or with increased amounts of megakaryocytes in the bone marrow had fewer defects in platelet function. Retention defect was more common in patients with hypolobulated megakaryocytes, especially in those having a specific marker, the 5q- chromosome, in their bone marrow cells.

Adult