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Czapczak D.,Pracownia Badan Predyspozycji Genetycznych | Markowska A.,University Medyczny Im rcinkowskiego | Piatkowska M.,Pracownia Badan Predyspozycji Genetycznych | Friebe Z.,University Medyczny Im rcinkowskiego znaniu | And 5 more authors.
Nowotwory | Year: 2011

Aim: Nijmegen breakage syndrome (NBS) is a rare autosomal recessive condition of chromosomal instability, caused by mutations in the NBS1 gene. The NBS1 product, nibrin, is involved in double-strand break DNA repair. Patients with NBS have high incidence rate of cancer. Heterozygotic carriers of NBS1 mutations are at increased risk of developing cancer. Uterine myomas are common, benign tumors of the smooth muscle cells of the myometrium. Uterine myomas are often found in family members of the patient. These benign tumours have been linked with chromosomal abnormalities, including chromosomes 7 and 14 affected in the NBS patients. We aimed to study the influence of heterozygous NBS1 mutations on the risk of developing uterine myomas. Material and methods: The heterozygous mutations in the exon 6 of the NBS1 gene, 657del5, R215W, V210F and G224E, were assessed by DHPLC (denaturing high-performance liquid chromatography) and sequencing in 570 patients with uterine myomas and in the geographically matched population control group of 1000 blood samples from newborns. The χ2 and Fisher tests were employed for the statistical analyses. Results: The carrier frequencies in patients with myoma and in the control population were 0.014 and 0.013, respectively. The R215W mutation was most frequent among myoma patients, and 3-times more frequent than in the control population. However, none of the differences in frequencies reached statistical significance. Conclusion: Mutations in the exon 6 of the NBS1 gene, 57del5, R215W, V210F and G224E, seem not to predispose to uterine myoma.

Romanowicz-Makowska H.,Pracownia Biologii Molekularnej | Smolarz B.,Pracownia Biologii Molekularnej | Houli A.,Oddzial Ginekologii | Goralczyk B.,Klinika Ginekologii Operacyjnej | And 2 more authors.
Przeglad Menopauzalny | Year: 2011

Background: Endometrial cancer is one of the most common malignant neoplasms which appear in the uterine body. X-ray repair cross-complementing 1 (XRCC1) protein can be involved in the repair of DNA lesions, which are known to contribute to endometrial cancer. Material and methods: The genotype analysis of XRCC1 Arg399Gln gene polymorphisms for 456 endometrial cancer patients and 300 controls of cancer-free subjects in the Polish population was performed using PCR-based restriction fragment length polymorphism (PCR-RFLP). Results: An association was found between endometrial cancer occurrence and the Gln/Gln genotype of the Arg399Gln polymorphism (odds ratio 2.22; 95% confidence interval 1.51-3.27, p < 0.0001). The Gln/Gln genotype of XRCC1 increased the risk of type I endometrial cancer occurrence (OR = 2.13, 95% CI = 2.02-2.75, p < 0.012). No statistically significant association was found between gene polymorphisms and endometrial cancer risk factors such as BMI, HRT, uterine bleeding, diabetes and hypertension. Conclusion: The results support the hypothesis that the Arg399Gln polymorphism of the XRCC1 gene may be associated with the development of sporadic endometrial cancer in Polish women.

Lauda-Swieciak A.,Oddzial Ginekologii | Szulczynski J.,Oddzial Noworodkow i Intensywnej Terapii | Moszczynska K.,Oddzial Ginekologii | Przybyl B.,Oddzial Noworodkow i Intensywnej Terapii | And 4 more authors.
Ginekologia Polska | Year: 2010

Holoprosencephaly is a brain malformation caused by abnormal division of the forebrain into two separate hemispheres. Abnormal structures of the central nervous system often occur with other midline forebrain and face failures. In this report we present a case of a prenatal diagnosis of holoprosencephaly. © Polskie Towarzystwo Ginekologiczne.

Kubik S.,Oddzial Ginekologii | Moszynska-Zielinska M.,Pracownia Radioterapii Ginekologicznej Zakladu Teleradioterapii Wojewodzkiego | Krzewinska-Czerniecka H.,Oddzial Ginekologii | Zytko L.,Pracownia Radioterapii Ginekologicznej Zakladu Teleradioterapii Wojewodzkiego | Gottwald L.,Pracownia Radioterapii Ginekologicznej Zakladu Teleradioterapii Wojewodzkiego
Ginekologia i Poloznictwo | Year: 2015

Five patients with a history of malignant neoplasms of the genital tract, treated between 1991 - 2006 in the Regional Cancer Centre of Łódź, who after oncologic treatment became spontaneously pregnant and delivered eight healthy children were described. A review of the literature concerning pregnancies after gynecologic malignancies was presented. © GinPolMedProject 2.

Malgorzata W.,Medical University of Bialystok | Ewelina T.,Medical University of Bialystok | Emilia B.-G.,Medical University of Bialystok | Maciej K.,Oddzial Ginekologii
Ginekologia Polska | Year: 2010

Objectives: The aim of the study was to evaluate the expression of tumor necrosis factors -α and β (TNF), their receptor and content in human uterine leiomyomas at various stages of tumor growth. Material and Methods: Studies were performed on human myometrium and uterine leiomyomas of various weights (small: less than 10g and large: more than 100g). Presence of both growth factors and their receptor was detected by Western Immunoblotting technique. The content of TNF-α was evaluated by immunoenzymatic method (ELISA). Results: Changes in the expression of tumor necrosis factors and their receptor and diference in content of TNF-α during the tumor growth were found. Conclusions: Myometrium conversion into leiomyoma and an increase in its mass is accompanied by changes in the expression and contents TNF and TNF RI. © Polskie Towarzystwo Ginekologiczne.

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