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Bioactive Glass Coatings Synthesized by Pulsed Laser Deposition Technique

100%
Kwiatkowska J., Suchanek K., Rajchel B.
Acta Physica Polonica A
|
2012
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vol. 121
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issue 2
502-505
EN
Surface modification of medical implants is often required to improve their biocompatibility or, through bioactive properties of the surface material, facilitate its intergrowth with the living tissue. Bioactive-glass coatings can serve that purpose for the bone implants. We report a successful preparation of silicate-phosphate bioactive-glass coating on titanium substrate using the pulsed laser deposition method and present the coating characterization in terms of bonding configuration and chemical activity. The former was studied with high-resolution Raman microspectroscopy and revealed the presence of structural units responsible for the material's bioactivity. The bioactivity was also tested directly, in vitro, by soaking the samples in the simulated body fluid and examining the result with the Raman spectroscopy. The Raman spectrum, typical of hydroxyapatite was observed proving that the bone-like-material formed on the coating's surface.
2

DNA polymorphism in locus D1S80 in Poland. DNA profiling and detection of new alleles by heteroduplex formation between alleles of the same size

100%
Kwiatkowska J., Dziechciowska K., Lisiecka D., Slomski R.
Journal of Applied Genetics
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1997
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vol. 38
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issue 3
335-341
EN
We have analysed allele distribution at the highly polymorphic variable number of tandem repeats (VNTR) locus D1S80 (pMCT118) in the Polish population using the polymerase chain reaction (PCR) technique. Characteristics of the D1S80 locus makes it a very useful marker for population genetic research, genetic linkage studies and forensic identification of individuals. During our routine application of the D1S80 marker to paternity testing in several cases of homozygosity detected by polyacrylamide gel electrophoresis, heteroduplex formation for alleles 18 and 24 was also observed. Direct sequencing of PCR products revealed that alleles 18 and 24 of locus D1S80 actually represent a mixture composed of different sequences. Our observations indicate that identification of some 18 and 24 VNTR alleles based only on size estimated in electrophoretic analyses could lead to errors in paternity testing and DNA profiling.
3

Application of some molecular biology techniques in diagnosis of human genetic diseases

100%
Slomski R., Kwiatkowska J., Chlebowska H.
Biotechnologia
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1993
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issue 4
125-131
EN
Following the initial reports of the cloning of a DNA fragment, modern molecular genetics found immediate practical application in molecular analysis and diagnosis of human diseases.Genomic DNA, RNA, nucleic acids from archival specimen or cloned DNA may be starting materials for gene analysis.In extrame cases complete analysis can be performed on the DNA from a single cell or a few microdissected chromosome fragments, or on RNA from only few cells. Many variations of the basic analytical procedures have nov been described and applied to a range of medical disciplines. These include, the polymerase chain reaction (PCR), which rapid detection of fast or slow growing microorganisms and viruses, such as mycobacteria and HIV, the detection of minimal residual diseases in leukaemia and in HLA typing. The analysis of archival and forensic material has applications in forensic pathology and evolutionary biology. PCR technique has also established a central role in the human genome project.
4

Familial polyposiscoli inducing mutatios in APC gene in Poland

76%
Pawlak A. L., Plawski A., Smoczkiewicz P., Kwiatkowska J., Meissner W., Krokiewicz P., West S. P.
Journal of Applied Genetics
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1997
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vol. 38
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issue 1
77-85
EN
Screening for molecular changes within the adenomatous polyposis coli (APC) gene, exons 11 14 and the 5' half of exon 15, encompassing the mutation cluster region within exon 15, was performed in 30 patients with Familial Polyposis Coli (FAP). All patients were studied by heteroduplex analysis (HA) and single strand conformation polymorphism (SSCP) and molecular changes were found in 7 cases. Protein truncation test (PTT) has been performed in 17 cases in which mutations have not been found earlier, and shortening of protein product was noted in 2 cases. In three cases common deletion of 5 bp at codon 1309 and in one 5 bp deletion at codon 1061 were found. In other cases the molecular changes were demonstrated as heteroduplexes in exon 14 (1 patient), in segments E and F (one patient each) of exon 15, and in two cases the heteroduplexes were within the overlapping sequences of segments E/F and F/G of exon 15, respectively. In families where the molecular changes were found by HA, 7 persons at high risk for FAP were found and advised to undergo regular endoscopic examinations. In three persons at risk the transfer of mutation was excluded.
5

Analysis of candidate genes for genotypic diagnosis in the long QT syndrome

64%
Haack B., Kupka S., Ebauer M., Siemiatkowska A., Pfister M., Kwiatkowska J., Erecinski J., Limon J., Ochman K., Blin N.
Journal of Applied Genetics
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2004
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vol. 45
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issue 3
375-381
EN
Patients with the long QT syndrome (LQTS) suffer from cardiac arrhythmias that can lead to abrupt loss of consciousness and sudden death, already in young individuals. Thus, an early diagnosis of LQTS is essential for patients and their family members. So far, six genes (KCNQ1, HERG, SCN5A, ANK2, KCNE1, KCNE2) have been demonstrated to be involved in the development of LQTS. Since this syndrome is genetically heterogeneous and large-sized families are often not available for linkage analysis, alternative tools are required for a genetic diagnosis. To investigate genes with numerous exons, like KCNQ1, HERG, SCN5A and ANK2, segregation analysis of a Polish Romano-Ward family with eight members was performed as a reliable method faster than linkage analysis or direct sequencing. To test these four LQT loci, an appropriate selection of microsatellite markers covering different chromosomal regions was applied. Furthermore, two small genes KCNE1 and KCNE2 (at the LQT5 and LQT6 loci), and the SGK1 gene (encoding a kinase regulating KCNE1 and SCN5A channels) were sequenced. All six LQT loci and the SGK1 gene were excluded by these analyses, thus a different pathogenic mechanism of LQT syndromes can be presumed.
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