Wyniki wyszukiwania

1

Dysomia jednorodzicielska [UPD] u czlowieka mechanizm powstania i skutki kliniczne.

100%

Bocian E.

Postępy Biologii Komórki

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2000

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tom 27

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nr 3

359-376

2

Artykuł dostępny w postaci pełnego tekstu - kliknij by otworzyć plik

Reduction of the neutralisation time during antimicrobial activity testing of disinfectants according to European standards

51%

Tyski S., Bocian E., Grzybowska W.

Roczniki Państwowego Zakładu Higieny

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2013

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tom 64

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nr 2

Background. Evaluation of the biocidal activity of chemical disinfectants and antiseptics according to European Standards (EN) is based on determination of the reduction of the number of viable test microorganisms under defined conditions. Objective. The objective of this study was to investigate whether reducing the neutralization time required following declared product contact times for the tested microorganisms yields method validations. Material and methods. This study was conducted on 14 products containing active substances from different chemical groups: alcohols, aldehydes, biguanides, quaternary ammonium compounds, phenols, amines derivatives, oxidizing agents. These products were tested according to phase 1 tests: EN 1040:2005 and EN 1275:2005 and then according to phase 2, step 1 tests: Draft EN 13727:2005 and EN 13624:2003. Biocidal activity was evaluated using the following test organisms: S. aureus ATCC 6538, P. aeruginosa ATCC 15442, E. coli NCTC 10538, E. coli ATCC 10536, E. hirae ATCC 10541, C. albicans ATCC 10231 and A. brasiliensis ATCC 16404. Results. Validation C results for all products and tested microorganism strains were at least half of the density of the suspension for validation (Nvo) after only 10 s of neutralization. Furthermore, results from test procedures performed in parallel were also positive except 5 products toward A. brasiliensis. Conclusions. The results of our study confirm that the contact time described in the European Standards phase 1: EN 1040 and EN 1275, as well as phase 2, step 1: Draft EN 13727 and EN 13624 can be precisely determined in spite of reducing the neutralization time from 5 minutes to even 10 seconds.

3

Ocena aktywnosci wybranych alkoholowych preparatow antyseptycznych w stosunku do klinicznych szczepow bakteryjnych

51%

Bocian E., Zareba T., Tyski S.

Medycyna Doświadczalna i Mikrobiologia

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2004

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tom 56

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nr 2

199-209

Określono przeciwbakteryjną aktywność alkoholowych preparatów antyseptycznych, niektórych o złożonym składzie, w stosunku do klinicznych szczepów bakterii, w tym również zależność aktywności preparatów od ich stężenia. Badanie przeprowadzono zgodnie z wymaganiami projektu normy prEN 12054. Potwierdzono istotność zaleceń producenta, aby nie stosować preparatów rozcieńczonych, zwłaszcza żeli.

4

Ocena jakości cytogenetycznych badań diagnostycznych według kryteriów brytyjskiego systemu kontroli UK NEQAS. Analiza wyników uzyskanych w latach 1996-1999

51%

Bocian E., Jakubow-Durska K., Mazurczak T.

Diagnostyka Laboratoryjna

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2000

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tom 36

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nr 3

5

Zastosowanie metody impedymetrii do badania aktywnosci bakteriobojczej srodkow antyseptycznych

51%

Zareba T., Bocian E., Tyski S.

Medycyna Doświadczalna i Mikrobiologia

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2003

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tom 55

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nr 1

97-104

Kontrola skuteczności działania środków antyseptycznych przebiega zgodnie z dokumentami normatywnymi. Zastosowanie automatycznych metod pozwala na skrócenie czasu oczekiwania na wynik. Jedną z takich technik jest impedymetria - oparta o zmianę przewodnictwa elektrycznego płynnego podłoża pod wpływem wzrostu drobnoustrojów. Porównanie wyników określania liczby drobnoustrojów przy użyciu metody impedymetrii z manualną metodą liczenia kolonii drobnoustrojów na płytkach agarowych, wykazało pełną przydatność pomiaru impedancji do tego rodzaju badań.

6

Metoda uzyskiwania zwiększonej rozdzielczości obrazu prążkowego ("HRT") w chromosomach komórek płynu owodniowego

51%

Jakubow K., Bocian E., Sosnowska K.

Diagnostyka Laboratoryjna

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1989

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tom 25

|

nr 6

7

Ozonoterapia oraz zastosowanie ozonu w dezynfekcji

51%

Bialoszewski D., Bocian E., Tyski S.

Postępy Mikrobiologii

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2012

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tom 51

|

nr 3

8

Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene

45%

Milewski M., Bal J., Bocian E., Obersztyn E., Mazurczak T.

Journal of Applied Genetics

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1996

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tom 37

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nr 2

Relationship between selected molecular, cytogenetic and clinical parameters was analysed in a group of 63 individuals (45 males and 18 females) with full fragile X mutation. Significant correlation between the size and somatic instability of fully mutated alleles in both males and females was found. Possible explanations of this result are discussed. With respect to the mutation size, an apparent difference was observed between males with different degree of mental retardation. No such difference appeared when affected and normal females with full mutation were compared. The proportion of mutated active X chromosome was significantly higher in mentally retarded females than in those without any mental impairment.

9

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion invInstitute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland[p15.33q35.3]

45%

Bocian E., Suchenek K., Obersztyn E., Nowakowska B., Mazurczak T.

Journal of Applied Genetics

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2005

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tom 46

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nr 1

We present a family with three cases of recombination aneusomy rec(5)dup(5q) originating from a large parental pericentric inversion of chromosome 5. The proband - a 6-year-old girl with mental retardation, speech delay, microcephaly, and slight facial dysmorphism - was referred for subtelomere testing. FISH with a Multiprobe Chromoprobe T System (CytoCell) and with several BAC clones mapping to both subtelomere regions of chromosome 5, revealed a recombinant chromosome rec(5)dup(5q) originating from a paternal pericentric inversion inv(5)(p15.33q35.3). The same inversion was present in the proband’s father’s twin-brother and rec(5)dup(5q) was also identified in his two mentally retarded daughters. The distance of breakpoints from the telomere was: 0.234-1.4 Mb for 5p and 4.1 —4.8 Mb for 5q. HR-CGH analysis confirmed the duplication of the 5q subtelomeric region but did not identify any concomitant deletion in the 5p subtelomere. Precise mapping of the aneusomic regions in the proband enabled mapping the cat cry and speech delay to 5p15.33, making the earlier localizations of these features more precise. Our family shows that the large pericentric inversion with both breakpoints at subtelomeric regions of chromosome 5 is associated with a high risk of rec(5)dup(5q) in the progeny.

10

Wrazliwosc wybranych szczepow bakterii Gram-ujemnych i Gram-dodatnich izolowanych z materialu klinicznego, lekow i srodowiska, na farmakopealne zwiazki dezynfekcyjne i antyseptyczne

39%

Grzybowska W., Mlynarczyk G., Mlynarczyk A., Bocian E., Luczak M., Tyski S.

Medycyna Doświadczalna i Mikrobiologia

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2007

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tom 59

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nr 1

65-73

11

Mikrobiologiczna charakterystyka wybranych płynnych produktów stosowanych do mycia rąk

39%

Tyski S., Bocian E., Zawistowska A., Mrowka A., Kruszewska H., Grzybowska W., Zareba T.

Medycyna Doświadczalna i Mikrobiologia

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2013

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tom 65

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nr 3

12

Indentification of three different chromosomal additions by chromosome painting using fluorescence in situ hybridization [FISH] technique

39%

Bocian E., Stankiewicz P., Stanczak H., Obersztyn E., Mazurczak T., Mazurczak T.

Journal of Applied Genetics

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1996

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tom 37

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nr 2

Fluorescence in situ hybridization (FISH) is a very useful method for assessing chromosome rearrangements. When neither banding pattern nor clinical symptoms are sufficient to determine the origin of additional chromosomal fragment, FISH with multiple chromosome-specific libraries (chromosome painting), allows to solve this diagnostic problem rapidly. Three chromosomal additions, 7q+, 13p+ and 22q+, found in routine cytogenetic studies performed in children with phenotypic abnormalities were analysed using FISH. This technique documented the origin of the extra material to be derived from chromosome 16[der(7)t(7; 16)(q36.3;p 13.11)], 18[der(13)t(13; 18)(p12;q 12.2)] and 22[dup(22)(q11.2q13.1)], respectively. In two cases the abnormality arose de novo, while in the third case the product of translocation t(13;18) was maternal by origin. It was present in 30% of mother's lymphocytes, and in 70% of them a balanced Robertsonian translocation t(13q;15q) was found. In the presented cases the chromosome analysis with both traditional banding and chromosome painting techniques, allowed to establish final clinical diagnosis.

13

Molecular versus classical cytogenetics - evaluation of 20 Prader-Willi syndrome patients

39%

Stankiewicz P., Lebiocka J., Szpecht-Potocka A., Bocian E., Stanczak H., Obersztyn E., Mazurczak T.

Journal of Applied Genetics

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1997

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tom 38

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nr 2

Prader-Willi syndrome (PWS) is a developmental disorder caused by a deficiency of paternal contribution of the chromosome region 15q11.2-q13 arising from differently sized deletions, maternal disomy, or rarely imprinting mutations. We have analyzed 20 PWS patients using combined cytogenetic high resolution technique (HRT), fluorescence in situ hybridization (FISH) and molecular studies to identify parental origin (uniparental disomy) or molecular defect (deletion) of the Prader-Willi region. Lack of a paternal copy of 15q11.2-q13 resulting from its deletion was found in 16 patients. Using high resolution GTG banding on prometaphase chromosomes, deletion in the 15q11.2-q13 region was detected in only 8 patients. Application of FISH with different sets of PWS specific unique sequence probes (D15S11, SNRPN, D15S10, GABRß3) revealed microdeletions in 12 patients. In 12 out of 20 cases FISH confirmed HRT studies, while in 8 cases inconsistent results were obtained. No discrepancies between results of FISH and molecular studies were found, although the latter had a higher sensitivity. We conclude that FISH appears to be a rapid and reliable method of microdeletion identification and should be performed as a method of choice in cytogenetic diagnosis of Prader-Willi syndrome.

14

Supernumerary marker chromosomes characterized by fluorescence in situ hybridization [FISH]

39%

Bocian E., Stankiewicz P., Stanczak H., Obersztyn E., Korniszewski L., Mazurczak T.

Journal of Applied Genetics

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1996

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tom 37

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nr 3

Until recently marker chromosomes have presented a difficult diagnostic problem for cytogeneticists as well as for clinicians. Introduction of FISH to cytogenetic analysis has enabled identification of their origin giving possibility to outline specific phenotypic effects of defined marker chromosomes. Nine marker chromosomes were analysed with FISH using centromeric probes, chromosome- specific libraries and unique DNA sequences probes for PWS/AS critical region. The origin from acrocentric chromosomes was established in 6 cases. One marker was a product of maternal 11;22 translocation and two others were pericentromeric regions of chromosome 2 and 4. Among 6 markers, derived from acrocentric chromosomes, 2 consisted of pericentromeric part of chromosome 15, one was identified as mar (21) and in 3 other cases the origin could not be differentiated between chromosomes 13 and 21 or 14 and 22. Clinical consequences of marker chromosomes including the risk for chromosomal nondisjunction and trisomy 21 as well as the risk for uniparental disomy (UPD) are discussed.

15

Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition

33%

Szczaluba K., Mierzewska H., Obersztyn E., Tryfon J., Bekiesinska-Figatowska M., Szczepanik E., Chrzanowska K., Bocian E.

Journal of Applied Genetics

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2012

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tom 53

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nr 2

16

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrom

33%

Milewski M., Zygulska M., Bal J., Deelen W. H., Obersztyn E., Bocian E., Halley D. J. J., Horst J., Mazurczak T.

Acta Biochimica Polonica

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1996

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tom 43

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nr 2

The unstable DNA sequence in the FMR1 gene was analyzed in 85 individuals from Polish families with fragile X syndrome in order to characterize mutations responsible for the disease in Poland. In all affected individuals classified on the basis of clinical features and expression of the fragile site at X(q27.3) a large expansion of the unstable sequence (full mutation) was detected. About 5% (2 of 43) of individuals with full mutation did not express the fragile site. Among normal alleles, ranging in size from 20 to 41 CGG repeats, allele with 29 repeats was the most frequent (37%). Transmission of premutated and fully mutated alleles to the offspring was always associated with size increase. No change in repeat number was found when normal alleles were transmitted.

17

Analysis of unstable DNA sequence in FRM1 gene in Polish families with fragile X syndrome

33%

Milewski M., Zygulska M., Bal J., Deelen W. H., Obersztyn E., Bocian E., Halley D. J. J., Horst J., Mazurczak T.

Acta Biochimica Polonica

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1996

|

tom 43

|

nr 2

18

Molecular cytogenic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients

27%

Pietrzak J., Mrasek K., Oberszyn E., Stankiewicz P., Kosyakova N., Weise A., Cheung W. W., von E. F., Mazurczak T., Bocian E., Liehr T., Cai W. W.

Journal of Applied Genetics

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2007

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tom 48

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nr 2

167-175

Small supernumerary marker chromosomes (sSMCs) are a morphologically heterogeneous group of additional structurally abnormal chromosomes that cannot be identified unambiguously by conventional banding techniques alone. Molecular cytogenetic methods enable detailed characterization of sSMCs; however, in many cases interpretation of their clinical significance is problematic. The aim of our study was to characterize precisely sSMCs identified in three patients with dysmorphic features, psychomotor retardation and multiple congenital anomalies. We also attempted to correlate the patients' genotypes with phenotypes by inclusion of data from the literature. The sSMCs were initially detected by G-banding analysis in peripheral blood lymphocytes in these patients and were subsequently characterized using multicolor fluorescence in situ hybridization (M-FISH), (sub)centromere-specific multicolor FISH (cenM-FISH, subcenM-FISH), and multicolor banding (MCB) techniques. Additionally, the sSMCs in two patients were also studied by hybridization to whole-genome bacterial artificial chromosome (BAC) arrays (array-CGH) to map the breakpoints on a single BAC clone level. In all three patients, the chromosome origin, structure, and euchromatin content of the sSMCs were determined. In patient RS, only a neocentric r(2)(q35q36) was identified. It is a second neocentric sSMC(2) in the literature and the first marker chromosome derived from the terminal part of 2q. In the other two patients, two sSMCs were found, as M-FISH detected additional sSMCs that could not be characterized in G-banding analysis. In patient MK, each of four cell lines contained der(4)(:p 11.1 →q 12:) accompanied by a sSMC( 18): r( 18)(:p 11,2→q 11.1::p 11,2→q 11.1:), inv dup( 18)(:p 11.1→ql 1.1::q 11.1→p 11.1:), or der( 18)(:p 11.2→q11.1::ql 1.1→p 11.1:). In patient NP, with clinical features of trisomy 8p, three sSMCs were characterized: r(8)(:p12→q11.1::q11.1→p21:) der(8) (:p11.22→q11.1::q11.1→p21::p21→p11.22:) and der(21)(:p11.1→q21.3:). The BAC array results confirmed the molecular cytogenetic results and refined the breakpoints to the single BAC clone resolution. However, the complex mosaic structure of the marker chromosomes derived from chromosomes 8 and 18 could only be identified by molecular cytogenetic methods. This study confirms the usefulness of multicolor FISH combined with whole-genome arrays for comprehensive analyses of marker chromosomes.

19

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

24%

Bartnik M., Nowakowska B., Derwinska K., Wisniowiecka-Kowalnik B., Kedzior M., Barnaciak J., Ziemkiewicz K., Gambin T., Sykulski M., Bezniakow N., Korniszewski L., Kutkowska-Kazmierczak A., Klapecki J., Szczaluba K., Shaw C. A., Mazurczak T., Gambin A., Obersztyn E., Bocian E., Stankiewicz P.

Journal of Applied Genetics

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2014

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tom 55

|

nr 1

Ograniczanie wyników

Dysomia jednorodzicielska [UPD] u czlowieka mechanizm powstania i skutki kliniczne.

Reduction of the neutralisation time during antimicrobial activity testing of disinfectants according to European standards

Ocena aktywnosci wybranych alkoholowych preparatow antyseptycznych w stosunku do klinicznych szczepow bakteryjnych

Ocena jakości cytogenetycznych badań diagnostycznych według kryteriów brytyjskiego systemu kontroli UK NEQAS. Analiza wyników uzyskanych w latach 1996-1999

Zastosowanie metody impedymetrii do badania aktywnosci bakteriobojczej srodkow antyseptycznych

Metoda uzyskiwania zwiększonej rozdzielczości obrazu prążkowego ("HRT") w chromosomach komórek płynu owodniowego

Ozonoterapia oraz zastosowanie ozonu w dezynfekcji

Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion invInstitute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland[p15.33q35.3]

Wrazliwosc wybranych szczepow bakterii Gram-ujemnych i Gram-dodatnich izolowanych z materialu klinicznego, lekow i srodowiska, na farmakopealne zwiazki dezynfekcyjne i antyseptyczne

Mikrobiologiczna charakterystyka wybranych płynnych produktów stosowanych do mycia rąk

Indentification of three different chromosomal additions by chromosome painting using fluorescence in situ hybridization [FISH] technique

Molecular versus classical cytogenetics - evaluation of 20 Prader-Willi syndrome patients

Supernumerary marker chromosomes characterized by fluorescence in situ hybridization [FISH]

Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrom

Analysis of unstable DNA sequence in FRM1 gene in Polish families with fragile X syndrome

Molecular cytogenic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability