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DNA Bank for Polish Patients with a Predisposition for Intestinal Polyposis

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Pławski A., Podralska M., Cichy W., Drews M., Krokowicz P., Słomski R.
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issue 10
465-473
EN
Intestinal polyposis syndromes include a group of diseases conditioned by the occurrence of hereditary mutations. The current paper presents a collection of DNA samples derived from persons from families with a diagnosed adenomatous polyposes which comprise: familial polyposis coli together with its recessive form, Turcot's syndrome, inherited mixed polyposis as well as persons with recognised hamartomatous polyposes: juvenile polyposis, Peutz-Jeghers syndrome, Cowden syndrome and Proteus syndrome.The aim of the study was to present current achievements associated with the establishment of the DNA Bank for intestinal polyposis.Material and methods. Investigations were conducted on DNA isolated from cells of the peripheral blood. The search for mutations in APC, MUTYH, PTEN, BMPR1A, SMAD4 and STK11 genes preconditioning the occurrence of individual diseases was performed employing PCR-SSCP, PCR-HD, DHPLC as well as RFLP techniques and DNA sequencing.Results. At the present time, the DNA Bank comprises the total of 1097 DNA samples derived from 449 families with intestinal polyposis of which 945 samples come from persons in whose families Familial Adenomatous Polyposis (FAP) occurred. In addition, the collected data also contain material for analyses derived from 25 families with Peutz-Jeghers syndrome and 20 families with juvenile polyposis as well as single cases with the Cowden syndrome, Proteus syndrome and desmoid tumors. The performed molecular investigations allowed identification of mutations ranging from 44 to 50%.Conclusions. With regard to the quantity of the material collected for analyses and the efficacy level of the employed molecular methods, the obtained results are in keeping with the results found in the literature from the field of genetics and medicine and do not differ from world standards. The collection of data and materials for investigations in the case of rare diseases allows qualitative, organisational and economic optimisation of the performed investigations.
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Conflicting results of non-invasive methods for detection of Helicobacter pylori infection in children with celiac disease - a preliminary study

84%
Józefczuk J., Mądry E., Nowak J., Walkowiak M., Łochocka K., Banasiewicz T., Pławski A., Kwiecień J., Walkowiak J.
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2016
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vol. 63
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issue 1
127-130
EN
Background: There are no data addressing the usefulness of non-invasive tests for the detection of Helicobacter pylori (HP) infection in celiac disease (CD). Aim: The aim of this study was to compare two most sensitive and specific tests - urea breath test (UBT) and fecal antigen test (FAT) in HP diagnosis in CD patients. Materials and Methods: The study comprised of 76 CD patients, 49 healthy subjects (HS) and 35 patients who underwent differential diagnosis due to abdominal pain (AP patients). The presence of HP infection was evaluated using the 13C isotope-labeled UBT and FAT (ELISA). Results: HP infection was diagnosed based on UBT and FAT in 8 (16.3%) and 7 (14.3%) HS, and in 8 (10.5%) CD patients and 12 (34.3%) AP patients, respectively, using both tests. The prevalence of conflicting results in comparison with positive results (obtained with any of the two tests) was distinctly higher (54.5%) in CD group than in other subjects (23.3%); however, due to low HP prevalence, it did not reach the level of significance (p<0.1759). Conclusion: CD may increase the risk of divergent results of non-invasive tests used for the detection of HP infection in children. Since UBT is the most reliable test, we suggest its standard use as a method of choice in pediatric CD - at least until new evidence emerges supporting a different approach.
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