Wyniki wyszukiwania - Biblioteka Nauki

1

The problems in donor - recipient matching in kidney and bone marrow transplantation

100%

Nowakowska B.

Postępy Higieny i Medycyny Doświadczalnej

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1995

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tom 49

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nr 1

107-115

2

Pregnancy, microchimerism, and autoimmune disease

100%

Nowakowska B.

Postępy Higieny i Medycyny Doświadczalnej

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2002

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tom 56

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nr 2

123-126

EN

Microchimerism is defined by the presence within an individual of a low level of cells derived from a different individual. The main, natural source of microchimerism is pregnancy. The migration of fetal cells into maternal blood during pregnancy has become an accepted fact. The maternal cells can also be found in the fetal circulation. Recent studies indicate that cells can persist in the maternal circulation for years after pregnancy. Maternal cells can also persist in het progeny. The autoimmune diseases are a diverse group of disorders. Many of them are of unknown etiology. Women are disproportionately affected by autoimmune disease and the incidence of some autoimmune disease in women peak following childbearing years. The integration of observation from differing fields of medicine has led to the consideration that microchimerism may be involved in the pathogenesis of some autoimmune diseases. Early results offer support for a potential role of microchimerism in SSc. The aim of this paper is to present current knowledge about this problem.

3

Influence of genetic factors on the susceptibility to HBV infection, its clinical pictures, and responsiveness to HBV vaccination

63%

Kacprzak-Bergman I. , Nowakowska B.

Archivum Immunologiae et Therapiae Experimentalis

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2005

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tom 53

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nr 2

139-142

EN

The association of genetic factors with hepatitis B virus (HBV) infection susceptibility, its different manifestations, and the different responses to hepatitis B antigen vaccination have been described by several authors. With regard to HLA class I molecules, association with HLA-B was especially observed. HLA-B35 and -B8 correlated with chronic active hepatitis (CAH) and with hepatitis B carriers. Correlation between HBV infection and HLA class II (loci DR and DQ) was also indicated, but results are not clear regarding the clinical pictures of the disease nor vaccination response. HLA class III (fourth complement component ? C4, third complement component ? C3, and properdin factor ? BF) are associated with various manifestations of this disease. The gammaglobulin phenotype Gm(1, 2, 3, 10, 21) was more frequent in CAH. However, in only three publications was the impact of HLA on the efficacy of interferon therapy taken into account.

4

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(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

109-114

EN

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.

5

Is p53 intronic variant G13964C associated with predisposition to cancer?

38%

Fiszer-Maliszewska L. , Kazanowska B. , Kusnierczyk P. , Manczak M. , Niepieklo W. , Pochron-Zeman B. , Nowakowska B.

Journal of Applied Genetics

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2003

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tom 44

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nr 4

547-552

EN

Germline mutations of the p53 gene confer a high risk of diverse malignancies. The highest frequency of inherited p53 defects was noted in Li-Fraumeni syndrome (LFS), but almost half of the mutations were found in families with incomplete Li-Fraumeni-like syndrome (LFL), including familial breast cancer cases. Recently, a germline intronic G13964C base change of the p53 was reported as a high-risk mutation associated with familial breast cancer (Lehman et al. 2000). We genotyped Polish cancer patients and healthy control individuals for the G13964C variant. Patients were chosen from cancer families with phenotypes typical for germline mutations of p53 (LFS, LFL), BRCA1 [hereditary breast (ovarian) cancer, HB(O)C] or a complex consistent with both LFL and HB(O)C. Children with leukemia were included in the study as another high risk group (Felix et al. 1992). The G13964C variant was detected in six of 87 (6.9%) cancer patients (including two ALL children), but also in eight of 96 (8.3%) control individuals (p > 0.4). Thus we found no evidence of the variant?s association with a high risk of cancer.