Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease?

Objective: The study aimed to investigate the polymorphism of fibrillin-2 (FBN2) and elastin genes in patients with Achilles tendon rupture and to compare the results with a control group of participants who did not experience such an injury.

Methods: In this prospective study, 106 consecutive patients in whom traumatic Achilles tendon rupture was diagnosed and treated were included. The control group consisted of randomly selected 92 athletes (10 women and 82 men) 85 of whom had practiced sports in the past, aged 40-76 years, who during their sports career did not experience Achilles tendon ruptures.

Cases of tetrasomy 9p and trisomy 9p in prenatal diagnosis-Analysis of noninvasive and invasive test results.

Tetrasomy 9p and trisomy 9p are rare chromosomal aberrations. The phenotypes of tetrasomy 9p and trisomy 9p are variable. Most cases are diagnosed in the postnatal period.

Prenatal Sonographic Features of Rare Chromosome 13 Aberrations.

Objective: Trisomy 13 is one of the most common chromosome aberrations diagnosed in the prenatal period, and is associated with some specific dysmorphic features. Rare chromosome 13 aberrations other than trisomy 13 may cause other fetal abnormalities. The aim of the study was to analyze cases with those rare chromosome 13 aberrations.

Genetic Factors of Idiopathic Gigantomastia: Clinical Implications of Aromatase and Progesterone Receptor Polymorphisms.

The role of estrogen, progesterone, their receptors and aromatase in the development of the breast is well documented. In this study we examined the association of genetic variants of progesterone receptor (PGR) and aromatase (CYP19A1) genes with gigantomastia risk. We conducted a case-control study among 124 women: 60 with gigantomastia and 64 controls.

Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage.

Introduction: Recurrent miscarriage is a serious clinical problem that affects 1-5 % of all couples trying to conceive. Although the incidence of Smith-Lemli-Opitz Syndrome (SLOS, OMIM #270400), an autosomal recessive condition caused by variants in the DHCR7 gene, is very low, (1:83 000), the observed carrier frequency of DHCR7 gene variants in the Polish population is high, ranging from 1:24 to 1:31. It is possible that this carriage may be responsible for early pregnancy loss.

MicroRNAs Which Can Prognosticate Aggressiveness of Bladder Cancer.

Bladder cancer (BC) is still characterized by a very high death rate in patients with this disease. One of the reasons for this is the lack of adequate markers which could help determine the biological potential of the tumor to develop into its invasive stage. It has been found that some microRNAs (miRNAs) correlate with disease progression.

Usefulness of droplet digital PCR and Sanger sequencing for detection of FGFR3 mutation in bladder cancer.

Objective: The purpose of our research was to determine the usefulness of different methods for detecting Y373C mutation of gene FGFR3.

Patients And Methods Total: 138 primary bladder cancer patients (71cases G1 and 67 cases G2-G3) were included in the study. Tumor tissue and urine samples were collected and kept frozen until the isolation of DNA.

Collagen type III and elastin genes polymorphism and the risk of nonsyndromic striae.

Background: Striae have been reported to be one of the most common skin lesions and a commonly encountered esthetic problem.

Objectives: The aim of this research was to examine elastin gene polymorphism (rs7787362, ELN) and collagen type III alpha 1 polymorphism (rs1800255, COL3A1) among polish woman population with SD in comparison with women without the lesions and to verify these polymorphisms as risk factors for SD.

Methods: Seventy female students (35 with striae (the mean age 23.

Detection of bladder cancer in urine sediments by a hypermethylation panel of selected tumor suppressor genes.

Background: Promoter hypermethylation can be a useful biomarker for early detection and prognosis of bladder cancer, monitoring response to treatment and complement classical diagnostic procedures.

Objective: The molecular test was performed on DNA from bladder cancer cells in voided urine samples, tumor tissue DNA and normal control DNAs. We aimed to assess the diagnostic potential of epigenetic changes in urine DNA from bladder cancer cases at various clinico-pathological stages of the disease.

Molecular subtyping of bladder cancer using Kohonen self-organizing maps.

Kohonen self-organizing maps (SOMs) are unsupervised Artificial Neural Networks (ANNs) that are good for low-density data visualization. They easily deal with complex and nonlinear relationships between variables. We evaluated molecular events that characterize high- and low-grade BC pathways in the tumors from 104 patients.

Concomitance of oncogenic HPV types, CHEK2 gene mutations, and CYP1B1 gene polymorphism as an increased risk factor for malignancy.

Introduction: Urinary bladder carcinoma ranks the fourth position in malignancy incidence rates in men (6.1%) and the 17th position in women (1.6%).

A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome.

Introduction: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD), and are associated with a variety of phenotypes ranging from phenotypic women (Complete Androgen Insensitivity Syndrome or CAIS) to milder degrees of undervirilisation (Partial Androgen Insensitivity Syndrome or PAIS) or men with infertility only (Mild Androgen Insensitivity Syndrome or MAIS). In this paper, we present the results of clinical, endocrine and molecular trials in a patient hospitalised because of primary amenorrhoea with typical phenotype of CAIS.

Material And Methods: The main objective of this study was to determine the molecular cause of androgen insensitivity syndrome in a 46,XY female patient.

Polymorphic variants of H-RAS protooncogene and their possible role in bladder cancer etiology.

Introduction: H-RAS gene is a protooncogene encoding p21ras, a small protein with GTPase activity. This protein is a component of many signaling cascades, while mutations in H-RAS gene are often found in urinary bladder cancer and leads to continuous transmission of signals stimulating cancer cell growth and proliferation. The T81C polymorphism of H-RAS gene is a SNP, which, although does not seem to impair p21ras protein structure and function, may contribute to the development of bladder cancer.

Significance of CDKN2A gene A148T variant in patients with bladder cancer.

Objectives: The A148T polymorphism of CDKN2A gene is observed in various neoplasms with the incidence rate of 3-35%, however, rather little is known either about the frequency of its occurrence or of its significance in urinary bladder carcinoma.

Materials And Methods: DNA was isolated from blood of 156 patients with urinary bladder carcinoma (130 men). In histopathology, 84 cases were classified as G1, 42 as G2, and 30 as G3.

Detection of loss of heterozygosity in patients with urinary bladder carcinoma: neoplastic tissue vs. urine sediment cells.

Introduction: Loss of heterozygosity (LOH) is frequently observed in urinary bladder neoplasms. In the reported study, an attempt was undertaken to determine the loss of heterozygosity of TP53(17p13), RB1(13q14), CDKN2A/ ARF(9p21) genes in DNA from neoplastic tissue, collected from patients with diagnosed urinary bladder carcinoma, and to compare the results with those of LOH evaluation in DNA isolated from urine sediment cells.

Material And Methods: After isolation, DNA was amplified (PCR) by means of primers to five polymorphic microsatellite markers, the products being then separated on agarose gel.

[Bacterial type II topoisomerases as targets for antibacterial drugs].

Bacterial type II DNA topoisomerases are essential enzymes for correct genome functioning and cell growth. Gyrase is responsible for maintaining negative supercoiling of bacterial chromosome, whereas topoisomerase IV acts in disentangling daughter chromosomes following replication. Type II DNA topoisomerases possess an ATP binding site, which can be treated as a target for antibacterial drugs.