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1

Manifestations of ageing at the cytogenetic level

100%

Wojda A. , Witt M.

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tom 44

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nr 3

383-399

EN

The effects of ageing in humans appear to be a combination of influence of genetically programmed phenomena and exogenous environmental factors, and take place at the cellular level (senescence), rather than at the level of the organism. There are many processes, which occur in somatic cells as a consequence of DNA replication (accumulation of DNA errors or mutations that outstrip repair processes, telomere shortening, deregulation of apoptosis, etc.) and which drive replicative senescence in human cells. DNA errors are considered to be critical primary lesions in the formation of chromosomal aberrations. It can be concluded that the chromosome aberrations are biomarkers of ageing in human cells. Studies of human metaphases, interphase nuclei and micronuclei showed the increase in loss of chromosomes and the increase in frequency of stable chromosome aberrations as a function of age.

2

Monitoring of cellular chimerism in patients after sex-mismatched bone marrow transplantation: technical report

80%

Jolkowska J. , Ladon D. , Wachowiak J. , Witt M.

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nr 3

209-212

EN

Numerous hematological diseases, in particular leukemias, can be treated successfully with allogeneic bone marrow transplantation (allo-BMT). Highly polymorphic microsatellite markers and X, Y-chromosome-specific sequences provide useful genetic markers for detection of complete or mixed chimerism in patients after allo-BMT. Chimerism can be monitored successfully using polymerase chain reaction technique (PCR) and cytogenetic analysis, especially fluorescent in situ hybridization (FISH). It is still unclear whether individuals with mixed chimerism after bone marrow transplantation have an increased risk of developing leukemic relapse or graft rejection. Molecular study of cellular chimerism can also be used for quantitative assessment of the amount of donor's cells in a recipient after bone marrow transplantation and for monitoring of minimal residual disease (MRD) or disease relapse. We report application of three different DNA-typing techniques: automated DNA sizing technology, fluorescent in situ hybridization and also Y-specific DNA probing for analysis of post-BMT chimerism in a case of sex-mismatched bone marrow transplantation. Key words: allo-BMT, chimerism, FISH, PCR.

3

Cytogenetic perspective of ageing and longevity in men and women

80%

Zietkiewicz E. , Wojda A. , Witt M.

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nr 3

261-273

EN

Analysis of relationships between the ageing cell phenotype and the age of cell donors is one of the ways towards understanding the link between cellular and organismal ageing. Cytogenetically, ageing is associated with a number of gross cellular changes, including altered size and morphology, genomic instability, and changes in expression and proliferation. Genomic instability can be easily assessed by analyzing the level of cytogenetic aberrations. In this review, we focus on the differences in the level and profile of cytogenetic aberrations observed in donors of different age and gender. Centenarians are a small fraction of the population at the extreme of human longevity. Their inclusion in such studies may shed light on one of the basic questions: whether genome stability is better maintained in successfully aged individuals compared to the rest of the population. At the same time, comparing the profile of age-related amount of chromosomal aberrations in men and women may help explaining the commonly observed gender differences in longevity.

4

Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss

80%

Krawczynski M. R. , Dmenska H. , Witt M.

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nr 1

107-110

EN

Three brothers, one 10-year-old and a pair of 14-year-old dizygotic twins ? expressed the classical, early-onset retinitis pigmentosa (RP) with typical ophthalmoscopic findings, night blindness, visual field constricted to 10o and flat ERG response. All three brothers were also diagnosed with primary ciliary dyskinesia (PCD) and had recurrent respiratory infections, chronic sinusitis and bronchiectasis. In all of them, resection of the middle lobe of the right lung was performed. A similar clinical picture of coexisting RP and PCD was noted in the brother of the probands? mother. All probands displayed situs solitus. Consistent with the X-linked mode of RP inheritance, there were also three obligatory female carriers of the disorder in this family: the mother of the affected boys, her mother and a daughter of her brother. In all of them, retinitis pigmentosa ?sine pigmento? was found with milder but clinically significant symptoms (mild night blindness, visual field constricted to 30o, and scotopic and photopic ERG responses reduced to 30-60%). No extraocular symptoms were detected in any of the heterozygous female carriers. This family presents an example of two rare phenomena: X-linked dominant retinitis pigmentosa (with milder expression in females) and a rare combination of RP with recurrent respiratory infections due to PCD.

5

Simultaneous transplantation of two allogeneic units of cord blood in an adult patient with acute myeloblastic leukemia. A case report

41%

Wiktor-Jedrzejczak W. , Rokicka M. , Urbanowska E. , Torosian T. , Graczyk-Pol E. , Tomaszewska A. , Krol M. , Paluszewska M. , Gronkowska A. , Ziarkiewicz-Wroblewska B. , Jolkowska J. , Witt M.

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nr 4

364-368

EN

The major obstacle to the therapeutic use of hematopoietic transplantation is the unavailability of matched, unrelated marrow donors for the large number of potential patients, although all of them have the chance to find sufficiently matched, unrelated cord blood units. However, the use of cord blood as a source of cells for transplantation is limited by its cell number, usually below 1 billion, which allows for routine transplantation only in children weighting less than 30 kg, while most potential recipients possess a higher body mass. This led to the idea of the simultaneous use of several units of cord blood which, combined, would fulfill the requirements for the necessary cell number for an adult recipient. We attempted to simultaneously transplant an adult patient with refractory acute myeloblastic leukemia utilizing two different cord blood units, one fully matched and one mismatched at one locus. The patient became reconstituted with only one unit, the mismatched, as determined using microsatellite markers, and had no signs of relapse of leukemia. Unfortunately, he died of persistent fungal (brain aspergilloma) infection on day +103. The successful engraftment may suggest that a method based on the principle of using more than one cord blood unit for transplantation is feasible in large adult patients and may reach routine application.