Haplotype analysis of the interleukin-18 gene in Czech patients with allergic disorders.

The interleukin-18 (IL-18) gene on chromosome 11q22 has been suggested as a susceptibility factor for allergies. To test for a possible role of IL-18 polymorphisms in Czech population, case-control study including 958 subjects (633 allergic patients and 325 healthy controls) was performed. An allele-specific polymerase chain reaction was used to analyze variants at positions -607 C/A (rs1946518) and -137 G/C (rs187238) in the promoter region together with the polymerase chain reaction-restriction fragment length polymorphism method for the detection of polymorphism at position -140 C/G (previously -133 C/G, rs360721) in intron 1 of the IL-18 gene.

The interaction of the polymorphisms in transporter of antigen peptides (TAP) and lymphotoxin alpha (LT-alpha) genes and atopic diseases in the Czech population.

Background: Transporter antigen peptide gene (TAP) products are involved in antigen processing. These genes, inducible by interferon gamma, as well as lymphotoxin alpha (LT-alpha), are located in the HLA region. Their involvement in immune response regulation makes them candidate atopy susceptibility genes.

Karyotypic and clinical progression of ANLL in a patient with constitutional der(15;21)(q10;q10).

A patient with a constitutional chromosomal abnormality who developed acute nonlymphocytic leukemia (ANLL-M4) at the age of 31 is presented. At the time of diagnosis the only acquired chromosomal change was the presence of a small marker chromosome. The patient was studied periodically for 11 years during his illness with no evidence of karyotypic progression, until the last study, when a deletion of the long arm of chromosome 7 was detected.

[2 cases of Robinow's syndrome with mental retardation].

The author describes two children, cousins, who have all signs typical for Robinow's syndrome; they are mentally retarded and of gipsy origin. The author assumes autosomal recessive heredity, suggested by the marked skeletal anomaly and consanguinity in the family.

Chronic lymphoproliferative disease of large granular lymphocytes.

An 80-year-old patient has been followed for hepato- and splenomegaly, hemolytic anemia, neutropenia with lymphocytosis with large granular lymphocyte predominance in his peripheral blood, with infiltration of bone marrow, liver and probably also spleen. Determination of surface markers of proliferating lymphocytes in peripheral blood showed a mixed phenotype of T suppressor/cytotoxic and natural killer cells (SIg-, E+, T3+, T8+, EAC+, Leu7-, N901+, NK9+, VIB C5 and VIB E3-, Ia-). An in vitro cytotoxic test showed the functional inactivity of the cells tested also after human leukocyte interferon stimulation.

Bovine superoxide dismutase in Fanconi anaemia. Therapeutic trial in two patients.

Bovine superoxide dismutase (SOD) (Peroxinorm, Grünenthal Stolberg) was injected intramuscularly or subcutaneously in a daily dose of 4 mg over a period of six weeks into two patients with Fanconi anaemia. The effects (measured by the decrease of chromosome aberrations in blood lymphocytes and the increase in blood cells in venous blood) were evident but temporary. The hypothetical mode of action of SOD and the failure of a prolonged therapeutic effect are discussed.

Homozygosity for fragile site at 17p12 in a 28-year-old healthy man.

In a family two heterozygous children and a homozygous phenotypically normal father with a fragile site at 17p12 were discovered. This observation confirms the opinion that even homozygosity for this fragile site is phenotypically harmless.

Clonal evolution of karyotype in blastic phase of CML.

A patient with chronic myelocytic leukemia (CML) had a Philadelphia chromosome--Ph1(t(9q +; 22q--)) in all evaluated bone marrow cells at the time of diagnosis. After 29 months of intermittent therapy (chemotherapy and immunotherapy) and 2 months before clinical signs of blastic phase developed, three additional cell lines in bone marrow and peripheral blood appeared: one line with extra chromosome Ph1, another one in which chromosome Y disappeared, and the third line with extra chromosome No. 13, evidently derived from the X-monosomie cell line.

[Diagnostic value of particular symptoms in monosomy X. Evaluated on the basis of experiences with 34 own cases (author's transl)].

Ten cases of monosomy X and caryotype 45,X, and 24 cases of the disorder with various forms of mosaicism are reported. The diagnostic significance of particular stigmata is underlined, and the possibility stressed to demonstrate a hidden pterygium colli by declining the patient's head laterally. Moreover, several peculiarities of individual cases are shown: In three girls with mosaicism, spontaneous puberty was observed, however, in two of them, it was followed by precocious menopause at the age of 14 and 18 years, respectively.

[Juvenile type of chronic myelogenous leukemia in a 3 6/12 year old boy with trisomy 21 mosaicism but no symptoms of Down's syndrome (author's transl)].

In a 3 6/12 year old boy, with the juvenile type of chronic myelogeneous leukemia cytogenetic examination of bone marrow and blood, performed two months before onset of the acute blastic crisis, showed two cell lines: the first one with a normal karyotype 46, XY and the second one with a trisomic karyotype 47, XY, +21. This finding of a mosaic trisomy 21 in a patient without symptoms of Down's syndrome allow to assume the trisomy cells to be malignant, and the type of mosaicism to be proliferative. This karyologic finding could be taken for an early prognostic, unfavourable sign of the disease.