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A Zámecníková

Publications and source records attributed to A Zámecníková.

5 recordsLinked to original sources
PubMed2000

Chronic myelogenous leukemia as gene activation model in oncology minireview.

Many unique features of chronic myelogenous leukemia (CML) make it as a model for studying the development of leukemia in humans. Chronic myeloid leukemia is a disease of the hematopoietic stem cell that progress in a multistep fashion. The biphasic or triphasic clinical course of the disease exemplies the multistep process of tumor progression from the indolent chronic phase to a more aggressive and terminal blast crisis. CML was the first neoplastic disease shown to be associated with consistent karyotypic abnormality now known as the Philadelphia (Ph) chromosome. The result of the Philadelphia chromosome translocation t(9;22)(q34:q11) is the transposition of the c-abl oncogene from chromosome 9 to chromosome 22, where it is fused with part of the her gene. The translocation generates a new hybrid bcr-abl gene which plays a crucial role in the pathogenesis of CML. Presently, CML is perhaps the best understood cancer in humans and the model of oncogenesis mediated by the Ph chromosome translocation is one of the best-characterized example of gene activation in leukemia.

Chromosome Mapping↗
PubMed2000

Prognostic significance of genetic markers in chronic myelogenous leukemia patients after bone marrow transplantation.

Chronic myelogenous leukemia (CML) is a malignant disease of hematopoietic stem cell with a biphasic or triphasic clinical course and most often, with a fatal outcome. Significant progress in improving outcome for patients with CML has been achieved over past years. This can be attributed to marked improvement in therapeutic protocols and increased use of bone marrow transplantation (BMT) which remains the most effective option for long-term disease control of patient with CML. The residual leukemic activity in patients after BMT remains a central clinical question. To effectively monitor minimal residual disease leukemic activity after BMT, molecular genetic techniques are currently utilized in conjunction with cytogenetic assays. Because the clinical significance of detection minimal residual disease in CML remains to be determined, we performed cytogenetic analysis and PCR amplification technique in 37 Ph+ CML patients. All patients received transplants for CML in Bratislava between years 1992 and 1999. Our results suggest that PCR positivity after transplant is of limited prognostic significance for particular individuals and can be used to identified groups of individuals at elevated risk of relapse.

Bone Marrow↗
PubMed1996

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.

Adult↗
PubMed1989

[Pfeiffer's syndrome].

The authors examined a 2-month-old infant with clinical signs of Pfeiffer's syndrome (craniosynostosis, abnormalities of the extremities, normal psychomotor development). In the family other affected cases were revealed with a variable expressivity of the clinical signs. The authors draw attention to the importance of a detailed clinical, X-ray and anthropometric examination of different members of the family to detect carriership of the gene for ACS.

Acrocephalosyndactylia↗