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1

Manifestations of ageing at the cytogenetic level

100%
Wojda A., Witt M.
Journal of Applied Genetics
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2003
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vol. 44
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issue 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

Mechanism, detection and significance of some chromosomal rearrangements in chronic myeloid leukaemia (CML) and acute lymphoblastic leukaemia (ALL)

100%
Ladon D., Witt M.
Journal of Applied Genetics
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2000
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vol. 41
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issue 3
187-197
EN
Fluorescence in situ hybridization (FISH) allows detection of specific chromosomal aberrations in abnormal cells. In chronic myeloid leukaemia (CML) and acute lymphoblastic leukaemia (ALL), chromosomal abnormalities have been found in the bone marrow of children and adults. Detection of a number of malignant cells carrying specific aberrations after bone marrow transplantation is of great importance. FISH techniques with the use of specific probes for CML and ALL could detect a minimal residual disease and mixed chimerism after bone marrow transplantation.
3

Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions

100%
Geremek M., Witt M.
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issue 3
347-361
EN
Primary ciliary dyskinesia (PCD) is a multisystem disease characterized by recurrent respiratory tract infections, sinusitis, bronchiectasis and male subfertility, associated in about 50% patients with situs inversus totalis (the Kartagener syndrome). The disease phenotype is caused by ultrastructural defects of respiratory cilia and sperm tails. PCD is a heterogenetic disorder, usually inherited as an autosomal recessive trait. So far, mutations in two human genes have been proved to cause the disease. However, the pathogenetics of most PCD cases remains unsolved. In this review, the disease pathomechanism is discussed along with the genes that are or may be involved in the pathogenesis of primary ciliary dyskinesia and the Kartagener syndrome.
4

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

81%
Jolkowska J., Ladon D., Wachowiak J., Witt M.
Journal of Applied Genetics
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2000
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vol. 41
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issue 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.
5

Cytogenetic perspective of ageing and longevity in men and women

81%
Zietkiewicz E., Wojda A., Witt M.
Journal of Applied Genetics
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2009
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vol. 50
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issue 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.
6

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

81%
Krawczynski M. R., Dmenska H., Witt M.
Journal of Applied Genetics
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2004
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vol. 45
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issue 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.
7

Cystic fibrosis ? a probable cause of Frederic Chopin?s suffering and death

81%
Majka L., Gozdzik J., Witt M.
|
EN
Frederic Chopin ? a great Polish composer and pianist ? suffered from a chronic disease. Both during his life and after death physicians disagreed on the subject of Chopin?s diagnosis. His contemporaries accepted the diagnosis of a disease common in the 18th century ? tuberculosis. Description of new clinical entities provoked new dilemmas in the 20th century. In our opinion the most tenable seems to be the diagnosis of cystic fibrosis. In this work we present F. Chopin?s case history and discuss cons and pron for cystic fibrosis as the cause of F. Chopin?s suffering and death.
8

Haplotypes of microsatellite markers of the CFTR gene in Polish and German CF chromosomes suggest an ancient origin of the most frequent cystic fibrosis mutations

81%
Witt M., Varon M. R., Reis A., Rutkiewicz E.
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vol. 38
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issue 3
329-334
EN
In this study we have analysed haplotypes of microsatellite markers of the CFTR gene: IVS8CA, IVS17BTA, IVS17BCA in 17 CF chromosomes of Polish origin and in 19 chromosomes of German origin bearing CF mutations other than DF508. In the Polish population, the G542X mutation is connected with haplotypes 16/17 28/32/38 13; in the German population, a more diverse haplotype association has been detected (23 33 13 and 16 32 13). The 1717 1G >A mutation is associated with the 15/16 7 13 haplotype in the Polish population, like the G551D mutation in Germany. The only analysed case of N1303K of Polish origin is connected with the 23 30 13 haplotype, like in the German population. One N1303K chromosome of an entirely different haplotype (16 29 17) turned out to be of Greek origin. These data suggest an ancient, Palaeolithic or Neolithic origin of these mutations in the territory of current Northern Europe.
9

Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype

71%
Skrzypczak U., Rutkiewicz E., Pogorzelski A., Witt M., Zietkiewicz E.
Journal of Applied Genetics
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2007
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vol. 48
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issue 3
85-88
EN
We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of the CFTR mutations that are most frequently found in the Polish population: the severe F508del and 2,3del21kb, and the mild 3849+10kbC > T. No statistically significant increase in the frequency of these mutations was found in the studied group, as compared with the general population. This is consistent with an earlier observation in another population and indicates that the status of being a carrier of any of these CFTR mutations should not be considered as an important risk factor in PCD/KS pathogenesis.
10

Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype

71%
Skrzypczak U., Rutkiewicz E., Pogorzelski A., Witt M., Zietkiewicz E.
Journal of Applied Genetics
|
2007
|
vol. 48
|
issue 1
85-88
EN
We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of the CFTR mutations that are most frequently found in the Polish population: the severe F508del and 2,3del21kb, and the mild 3849+10kbC > T. No statistically significant increase in the frequency of these mutations was found in the studied group, as compared with the general population. This is consistent with an earlier observation in another population and indicates that the status of being a carrier of any of these CFTR mutations should not be considered as an important risk factor in PCD/KS pathogenesis.
11

The 102-year old woman with translocation (7;12) and infertility in anamnesis

71%
Wojda A., Wolnik-Brzozowska D., Lubka M., Mossakowska M., Witt M.
Journal of Applied Genetics
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2003
|
vol. 44
|
issue 3
425-427
EN
In this study we present a 102-year old woman carrying a (7;12)(q11.3;q14) translocation. A woman displays a normal phenotype and infertility in anamnesis. This is the first report linking t(7;12) and infertility.
12

Implementation of the standard strategy for identification of Ig/TCR targets for minimal residual disease diagnostics in B-cell precursor ALL pediatric patients: Polish experience

62%
Dawidowska M., Jolkowska J., Szczepanski T., Derwich K., Wachowiak J., Witt M.
Archivum Immunologiae et Therapiae Experimentalis
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2008
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vol. 56
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issue 6
409-418
EN
Introduction: Minimal residual disease (MRD), detected based on immunoglobulin and T-cell receptor (Ig/TCR) gene rearrangements as markers of residual leukemic cells, is currently the most reliable prognostic factor in acute lymphoblastic leukemia (ALL). A feasibility study is presented of the standard strategy for the identification of Ig/TCR targets for MRD diagnostics in Polish ALL patients by identifying Ig/TCR gene rearrangement pattern using standard primer sets and protocols. Materials and Methods: The PCR-heteroduplex approach based on BIOMED-1 and BIOMED-2 protocols (recommended as the European standard) was used to detect IGH, IGK-Kde, TCRD, TCRG, and TCRB rearrangements in 58 Polish B-cell precursor ALL patients. Sequencing and homology analysis between the obtained and germline Ig/TCR sequences enabled identification of the rearrangements.The U-Gauss test was used for statistical analysis of the Ig/TCR rearrangement pattern in Polish patients compared with relevant data on other nationalities. Results: The following pattern was identified: IGH: 83% (VH-JH: 74%, DH-JH: 9%), IGK-Kde: 41%, TCRD: 78% (incomplete TCRD: 55%, Vdelta2-Ddelta3: 45%, Ddelta2-Ddelta3: 21%, Vdelta2-Jalpha: 35%), TCRG: 50%, and TCRB: 13%. Considerable convergence of the Ig/TCR pattern in Polish patients and those of other nationalities (mainly West Europeans) was demonstrated. Statistically relevant differences were only found between the incidence of DH-JH in Polish (9%) and Dutch patients (24%; p<0.05) and Polish and Italian patients (19%; p<0.05), VH-JH in Polish (74%) and Chilean patients (100%; p<0.05), and TCRG in Polish (50%) and Brazilian patients (69%; p<0.05). Conclusions: The convergence of Ig/TCR patterns in Polish and European patients indicates that the strategy for Ig/TCR target identification based on standard primers and protocols might be directly used for the construction of Polish standards and recommendations for MRD diagnostics.
13

Effect of genotype on selected clinical features of Polish cystic fibrosis adults

42%
Majka L., Pogorzelski P. A., Pogorzelski A., Mlynarczyk M. W., Mlynarczyk W., Zebrak Z. J., Zebrak J., Rutkiewicz R. E., Rutkiewicz E., Nowicka N. A., Nowicka A., Witt W. M., Witt M.
Journal of Applied Genetics
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2001
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vol. 42
|
issue 3
367-377
EN
Cystic fibrosis (CF), the most common autosomal recessive disorder of Caucasians, is caused by the mutations in the gene encoding CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein. Until now, approximately 1000 mutations of the CFTR gene have been described. The genotype-phenotype relationships in CF are still not completely understood. This study was undertaken in an attempt to characterise the distribution of CFTR mutations and their effect on selected clinical parameters in a group of Polish CF adults. A total number of 38 adult CF patients (mean age 21.6 ? 6.8); 18 females and 20 males were enrolled in the study. The CFTR gene identification was conducted with the use of PCR and InnoLipa-CF set. The assessed clinical parameters included: age at diagnosis, age, lung function test, X-ray scored in Brasfield score, weight & height. We found that: (1) the genotypes of the studied population were unevenly distributed (65.8% ? genotype deltaF508/M), (2) a high percentage of 3849+10kbC.T was noted, (3) patients homozygous for the deltaF508 mutation were diagnosed significantly earlier and had a lower body mass index, (4) no differences were observed in the patients? length of life or the progression of lung disease. Conclusions: 1. In comparison to other populations, Polish adult CF patients display a relatively higher frequency of mild mutations. 2. Late diagnosis of CF in the studied group may be partially caused by a high percentage of CFTR mutations connected with the mild course of the disease that are difficult to identify. 3. Cystic fibrosis should be more commonly taken into consideration in the differential diagnosis in adult patiens with milder symptoms.
14

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

42%
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.
Archivum Immunologiae et Therapiae Experimentalis
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2005
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vol. 53
|
issue 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.
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