Evaluation of Paraoxonase-1 and Pentraxin-3 in the Diagnosis and Prognosis of Endometrial Cancer.

It is relevant to find new prognostic and diagnostic biomarkers for endometrial cancer. The study group consisted of 94 cases of endometrial cancer, the control group of 65 cases of normal endometrium. We evaluated PON1 and PTX3 serum levels.

Etiological agents of bacterial meningitis in adults and antibiotic susceptibility of Streptococcus pneumoniae isolated between 2009-2016 from patients of Regional Specialist Hospital of Dr Wł. Biegański in Lódź.

Introduction: Bacterial meningitis (BM) is one of the most severe clinical form of infections, which is well known for an acute course and high mortality. Therefore, it is crucial to establish the etiology and antibiotic susceptibility of frequently isolated microorganisms.

Aim: The aim of this study was to present the etiological agents of BM in adults and antibiotic susceptibility of Streptococcus pneumoniae.

Clostridium difficile infection a current therapeutic and epidemiological problem.

Clostridium difficile (CD) is the most common etiologic agent of antibiotic-associated diarrhea. The number of infections has increased dramatically in the last decade. Although the diseases caused by CD are mostly related to health care and antibiotic therapy, some are community-acquired cases.

Genetic Polymorphism of SUMO-Specific Cysteine Proteases - SENP1 and SENP2 in Breast Cancer.

SENP proteases take part in post-translational modification of proteins known as sumoylation. They catalyze three distinct processes during sumoylation: processing of SUMO protein, deconjugation of SUMO from the target protein, and chain editing which mentions to the dismantling of SUMO chain. Many proteins that are involved in the basic processes of cells, such as regulation of transcription, DNA repair or cell cycle control, are sumoylated.

Common variants of xeroderma pigmentosum genes and prostate cancer risk.

The genetic basis of prostate cancer (PC) is complex and appears to involve multiple susceptibility genes. A number of studies have evaluated a possible correlation between several NER gene polymorphisms and PC risk, but most of them evaluated only single SNPs among XP genes and the results remain inconsistent. Out of 94 SNPs located in seven XP genes (XPA-XPG) a total of 15 SNPs were assayed in 720 unselected patients with PC and compared to 1121 healthy adults.

Common variants of ZNF750, RPTOR and TRAF3IP2 genes and psoriasis risk.

Psoriasis vulgaris is a genetically heterogenous disease with unclear molecular background. We assessed the association of psoriasis and its main clinical phenotypes with common variants of three potential psoriasis susceptibility genes: ZNF750, RPTOR and TRAF31P2. We genotyped 10 common variants in a cohort of 1,034 case-control individuals using Taqman genotyping assays and sequencing.

Comparison of whole genome amplification and nested-PCR methods for preimplantation genetic diagnosis for BRCA1 gene mutation on unfertilized oocytes-a pilot study.

Background: Preimplantation genetic diagnosis (PGD) remains nowadays a valid alternative for couples at high-risk of having a child with a genetic disease and for women older than 37-40 years with the high risk of chromosomal aneuploidies in the embryos. However the use of PGD for high penetrance recessive, dominant and X-liked disorders occurring in early life is documented, debate exists regarding its appropriateness in lower penetrance and late-onset cancer susceptibility syndromes. The data regarding the efficacy of different molecular techniques used in PGD are still lacking.

Psoriasis vulgaris and familial cancer risk- a population-based study.

Background: Follow-up studies of psoriasis patients indicate an increased risk in the occurrence of malignancies at different sites of origin. Population stratification and/or complicated interpretation of evidence on the risk of cancer (due to the small number of patients included in most series) lead to inconsistent data. Herein we investigated the risk of occurrence of malignancies at different sites of origin in a series of 517 psoriasis patients and their 1st degree relatives.

Xeroderma pigmentosum genes and melanoma risk.

Xeroderma pigmentosum is a rare autosomal recessive disease that is associated with a severe deficiency in nucleotide excision repair. The presence of a distinct the nucleotide excision repair (NER) mutation signature in melanoma suggests that perturbations in this critical repair process are likely to be involved with disease risk. We hypothesized that persons with polymorphic NER gene(s) are likely to have reduced NER activity and are consequently at an increased risk of melanoma development.

[Preimplantaion genetic diagnosis of hearing loss with 35delG mutation in GJB2 gene - preliminary report].

Introduction: 35delG mutation in GJB2 gene is the most frequent mutation in genetic hearing loss. The carrier screening for 35delG mutation to identify affected newborns is at the moment relatively inexpensive method for deafness diagnosis. The casual treatment of DFNB1 is impossible.

Vitamin D receptor variants and the malignant melanoma risk: a population-based study.

Background: There is continuing interest in identifying low-penetrance genes which are associated with an increased susceptibility to common types of cancer, including malignant melanoma.

Methods: We sought to examine the association between four VDR common variants (rs1544410, rs731236, rs10735810, rs4516035) and the risk of melanoma in the Polish population. We also determined the prevalence of compound carriers of VDR and known MM genetic risk factors MC1R and CDKN2A (A148T) variants.