Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker.

The frequency of small supernumerary marker chromosomes has been estimated to approximately 0.45 per 1000 newborns. They are usually seen as single marker chromosomes in a mosaic state. Two cytogenetically identical markers have been observed only occasionally. We report on a boy, with congenital heart defect, neonatal hypotonia, hypogenitalism, delayed psychomotor development and mild dysmorphic facial features. The GTG karyotype performed on peripheral blood lymphocytes revealed a mosaic male karyotype with three cell lines. One cell line had a normal karyotype. In the other two either single or double chromosome 6 derived supernumerary markers were present, leading to partial trisomy or partial tetrasomy of chromosome 6, respectively.

[Calcifications visible in mammographic examination as a diagnostic problem]. / Zwapnienia uwidocznione w badaniu mammograficznym jako problem diagnostyczny.

Mammography can detect various types of calcification in the breast. Their correct estimation enables detection of the breast cancer in situ. In our research there have been analyzed various types of calcification available on radiograms, which have been placed in publications. The aim was to find out which of them could be characteristic for cancer. Calcifications that are seen in mammography can be divided into: microcalcifications, macrocalcifications in galactophorous ducts, in blood and sympatic vessels. Pathogenesis of microcalcifications is not explained. There exist hypotheses which claim that they are caused by focuses of necrosis, changes in acid mucopolysaccharides in the midst of galactophorous ducts or in mitochondria. Differentiation between microcalcifications and macrocalcifications is based on variations in size, shape and radiological changes which they accompany.

[Effect of various cadmium doses in the diet on the body of growing rats]. / Wplyw róznych dawek kadmu w diecie na organizm rosnacych szczurow.

Studies were carried out on the effect of various cadmium doses, which were given to growing rats in diet. A 42-day biological experiment was carried out on male growing Wistar rats. The animals divided into groups were given diets containing cadmium in amounts of 50, 100 and 200 ppm and diet with no adding cadmium. The diets contained 20% of protein in equal amounts from wheat gluten and casein. It was demonstrated that cadmium had a significant influence on diet intake and growth of rats. The absorption from diets containing 50, 100 and 200 ppm of cadmium was about 30 to 48%. The more cadmium was absorbed, the most was in blood and rat liver. Anaemia was noted in animals, which were given diets with cadmium. Rats had a low level of haematocrit and haemoglobin in plasma. It was shown that cadmium intake caused a significant decrease in plasma albumin concentration and increase of plasma alanine aminotransferase and aspartate aminotransferase activity.

[Harmful elements versus iron, zinc and copper: their interactions in animals and humans. I. Mercury, tin, nickel, selenium, fluorine and aluminum]. / Pier wiastki szkodliwe a zelazo, czynk i miedz: interakcje w organizmie zwierzat i ludzi. Cz. I. Rtec, cyna, nikiel, selen, fluor, glin.

A literature survey was made of the interactions--in the organism--between some food contaminating elements (mercury, tin, nickel, selenium, fluorine, aluminium) and iron, zinc and copper. The harmful elements may disturb the mineral metabolism already at the stage of intestinal absorption. Moreover, they bring about changes in microelement distribution in the tissues and cells. On account of their approximately similar chemical structure, they compete for the sites of binding to some proteins, including enzymic ones. In this respect a special role is played by ++metallothionein, a protein with the ability of regulating free metal contents in the tissues and thus possibly displaying some detoxifying properties. Many mechanisms and relationships determining the interactions between the surveyed food contaminants and iron, zinc and copper remain, however, not elucidated.

[Cytogenetic examination of children with acute leukemia]. / Badania cytogenetyczne w ostrych bialaczkach u dzieci.

Cytogenetic examinations were carried out in 40 children with acute leukaemia. In 18 cases karyotype changes were demonstrated, in 8 cases the karyotype was normal, in 14 cases no cell division was obtained and these patients were excluded from further analysis. In the group with karyotype changes in most cases poor prognosis indices were found, including high number of blasts, extramedullary presence of leukaemic infiltrations and FAB L2 or L3. Chromosomal abnormalities included presence of aberrations in the form of translocation, mosaicism of karyotypes with nearly tetraploidy line, accessory marker chromosomes and other anomalies. In this group 8 children died (30% of all observed cases), while in the group without karyotype changes 2 children died (about 8%). In summary the authors stress the correlation between the presence of clinical prognostic factors (risk factors) and karyotype changes and worse prognosis in cases with chromosomal abnormalities. Attention is called to the great usefulness of cytogenetic examinations in the prognosis and treatment of leukaemias in children.

[Further steps in regional localization of the gene coding for human arylsulfatase B (ARSB): gene assignment to the section q11-qter of chromosome 5]. / Dalsze badania nad lokalizacja genu strukturalnego arylosulfatazy B (ARSB) czlowieka: przypisanie genu do odcinka q11-qter chromosomu 5.

The structural gene coding for human arylsulfatase B (ARSB) has been assigned to chromosome 5 and then to 5p11-5qter by means of somatic cell hybridization. The somatic cell hybrids used in the present studies were derived from fusion experiments between Chinese hamster, a3 line (TK-) and human leukocytes from a patient carrying the reciprocal balanced translocation t (5;21) (q11;q22) according to the method described previously. About 90 independent hybrid clones were selected for further analysis. They were tested for the presence of human markers employing the methods routinely used. ARSB activity was checked upon as previously. Giemsa banding technique was used to identify human and hamster chromosomes in the hybrid cells. Human ARSB activity was detected in 12 hybrid clones; 6 of them appeared to be informative. Out of 78 clones negative for human ARSB, 3 containing the product of translocation, 5pter-5q11: 21q22-21qter were found. Human superoxide dismutase-1 (SOD1) activity, a marker for chromosome 21, was found in 27 clones. The informative hybrid clones both positive and negative for ARSB are presented in table I. Six informative clones retained the region 5q11-5qter as the only portion of chromosome 5 and they expressed the activity of human ARSB and hexosaminidase B (HEXB), a marker for 15q13. It seems worth-while to point out that human ARSB activity was found only in the hybrids which retained the product of the translocation carrying 5q11-5qter in high percentage of the cells.(ABSTRACT TRUNCATED AT 250 WORDS)

[Chronic eosinophilic leukemia]. / Przewlekla bialaczka eozynofilowa.

In this research one case of chronic myelogenous eosinophilic leukemia (pbe) transformed into myeloblastic crisis in male patient aged 24, efficiently treated chemotherapy with following performing allogenic bone marrow transplantation was represented. The patients was admitted to the Department of Hematology with the cause of increased leucocytosis (up to 19.9 x 10(9)/l), eosinophilia (up to 15.3 x 10(9)/l), enlarged percentage of eosinophillic granulocytes in bone marrow, splenomegaly, anaemia and thrombocytopenia. Cytogenetic tests did not reveal any chromosomal disturbances, and PCR test did not detect bcr/abl rearanzation. After 7 monthly period of chronic phase of disease there was appeared symptoms of blastic acceleration myelogenous disease i.e. enlargement of splenomegaly, intensification of anaemia and thrombocytopenia, very fast increasing leucocytosis in short time together with presence of myeloblasts in blood and bone marrow smear tests. Blastic acceleration pbe with eosinophils dominant in bone marrow was confirmed by flow cytometry. Induction chemotherapy according to schedule HAR (Hydroxyurea--H, Arabinoside Cytosine--A, Doxorubicin--R), consolidation and irradiation of spleen allowed to receive complete remission. The patients was undergone allogenic bone marrow transplantation (allo-BMT) from related donor (younger brother). The follow-up with the period 18 months after allo-BMT has not revealed the relapse of disease.