Search for CP violation in τ±â†’K(S)0π±ντ decays at Belle.

We report on a search for CP violation in τ(±)→K(S)(0)π(±)ν(τ) decays using a data sample of 699 fb(-1) collected by the Belle experiment at the KEKB electron-positron asymmetric-energy collider. The CP asymmetry is measured in four bins of the invariant mass of the K(S)(0)π(±) system and found to be compatible with zero with a precision of O(10(-3)) in each mass bin. Limits for the CP violation parameter Im(η(S)) are given at the 90% confidence level. These limits are |Im(η(S))| < 0.026 or better, depending on the parametrization used to describe the hadronic form factors, and improve upon previous limits by 1 order of magnitude.

Search for CP violation in the decays D(s)+ --> KS0pi+ and D(s)+ --> KS0K+.

We have searched for CP violation in the charmed meson decays D((s))(+) --> K(S)(0)pi(+) and D((s))(+) --> K(S)(0)K(+) using 673 fb(-1) of data collected with the Belle detector at the KEKB asymmetric-energy e(+)e(-) collider. No evidence for CP violation is observed. We report the most sensitive CP asymmetry measurements to date for these decays: A(CP)(D(+)-->K(S)(0)pi(+)) = (-0.71 +/- 0.19 +/- 0.20)%, A(CP)(D(s)(+) --> K(S)(0)pi(+)) = (+5.45 +/- 2.50 +/- 0.33)%, A(CP)(D(+) --> K(S)(0)K(+)) = (-0.16 +/- 0.58 +/- 0.25)%, and A(CP)(D(s)(+) --> K(S)(0)K(+)) = (+0.12 +/- 0.36 +/- 0.22)%, where the first uncertainties are statistical and the second are systematic.

Observation of a charmoniumlike enhancement in the gammagamma-->omega(J)/psi process.

We report the results of a search for a charmoniumlike state produced in the process gammagamma-->omegaJ/psi in the 3.9-4.2 GeV/c{2} mass region. We observe a significant enhancement, which is well described by a resonant shape with mass M=(3915+/-3+/-2) MeV/c{2} and total width Gamma=(17+/-10+/-3) MeV. This enhancement may be related to one or more of the three charmoniumlike states so far reported in the 3.90-3.95 GeV/c{2} mass region.

Measurement of inclusive radiative B-meson decays with a photon energy threshold of 1.7 GeV.

Using 605 fb(-1) of data collected at the Upsilon(4S) resonance we present a measurement of the inclusive radiative B-meson decay channel, B-->X(s)gamma. For the lower photon energy thresholds of 1.7, 1.8, 1.9, and 2.0 GeV, as defined in the rest frame of the B meson, we measure the partial branching fraction and the mean and variance of the photon energy spectrum. At the 1.7 GeV threshold we obtain the partial branching fraction BF(B-->X(s)}gamma)=(3.45+/-0.15+/-0.40)x10(-4), where the errors are statistical and systematic.

Measurement of the time-dependent CP asymmetries in B0-->K(S)(0)rho(0)gamma decays.

We report the first measurement of time-dependent CP asymmetry in B(0)-->K(S)(0)rho(0)gamma decays based on 657 x 10(6) BB pairs collected with the Belle detector at the KEKB asymmetric-energy collider. We measure the CP-violating parameter S_{K_{S};{0}rho;{0}gamma}=0.11+/-0.33(stat)-0.09+0.05(syst) from a signal of 212+/-17 events. We also obtain the effective direct CP-violating parameter A{eff}=0.05+/-0.18(stat)+/-0.06(syst) for mK(S)0pi+pi- <1.8 GeV/c(2) and 0.6 GeV/c(2)

Approaches to identification of HNPCC suspected patients in Slovak population.

Patients with hereditary non-polyposis colorectal cancer (HNPCC) have a DNA mismatch repair defect (MMR) in their tumor tissue that results in instability of microsatellite DNA sequences (MSI). Thus, MSI analysis may effectively indicate this form of cancer that should be then proved by analysis of germline mutations in MMR genes. The aim of this study was to identify HNPCC suspected patients in the Slovak population by investigating microsatellite instability in colorectal tumor tissues. MSI was studied at 5-11 loci in matched tumor and normal DNA using radioactively labeled PCR products separated on sequencing gels. High microsatellite instability (MSI-H) was present only in patients younger than 50 years, in 100% of patients having two affected relatives by colorectal cancer and in 67% of patients with only one affected relative. In both groups of patients colorectal cancer was present in two successive generations. No MSI-H was found in the group of patients older than 50 years, even if they had positive family history for colorectal cancer. Among all markers used, the BAT26 mononucleotide repeat (100%), DI0S197 and D13S175 (62.5%) dinucleotide repeats were the most frequently altered in the tumor tissues. Retrospective analysis revealed that some of the patients having MSI-H tumors have had clinicopathological characteristics frequently reported to HNPCC. The family members of those patients with MSI-H are enrolled in preventive health care program until mutational analyses will enable to select carriers from non-carriers of mutated MMR 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.

Identification of APC exon 15 mutations in families suspected of familial adenomatous polyposis (FAP).

Patients with familial adenomatous polyposis coli (FAP) reveal numerous colorectal adenomas as well as benign and malignant extracolonic lesions. Adenomatous polyposis coli (APC) gene mutations are the crucial genetic defect in FAP. The APC mutation molecular analysis of 20 FAP families was performed using the novel and effective method of the heteroduplex analysis (HDA). All of these families were screened for mutations in APC exon 15. APC mutations were identified in 4 individuals of two families. These two families were also screened by the protein truncation test (PTT). The PTT results confirmed previous findings obtained by HDA. The results of molecular analysis were correlated with the clinical manifestations of extracolonic lesions and congenital hypertrophy of retinal pigment epithelium (CHRPE). Positive correlation of all clinical examinations and mutations of APC gene was observed in all 4 FAP patients.

Variant forms of Philadelphia translocation in two patients with chronic myeloid leukemia.

During a 4-year period (December 1990-December 1994), among other diagnoses one hundred cases of chronic myeloid leukemia (CML) were analyzed in our department. We focused our attention on two cases with a variant form of Philadelphia translocation. Cytogenetic and molecular genetic studies were performed to resolve the status of BCR and ABL in the bone marrow or peripheral blood cells of the two CML patients with complex translocations involving chromosomes 3, 9, 22 and 9, 12, 22 respectively. In the first case the presence of Ph chromosome was detected cytogenetically, BCR-ABL translocation was detected by Southern hybridization. In the second case, only the PCR method showed BCR-ABL rearrangement. The second case, with a random variant form of Ph translocation, could be detected using different methods of clinical molecular genetics.

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.

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. Five weeks before death a variable hypodiploidy was found in more than 50% mitoses. The patient died 47 months after the establishment of CML and seven months after the onset of the blastic phase.