Case Report: The Role of Molecular Analysis of the Gene in Asymptomatic Individuals.

-associated polyposis (MAP) is a rare hereditary condition caused by the biallelic mutation in the gene encoding MUTYH glycosylase. This enzyme is a key member of the base excision repair (BER) pathway responsible for the repair of DNA lesions formed by reactive oxygen species (ROS). We report two cases of MAP.

Molecular biomarkers in the diagnostic of patients with colorectal cancer.

Colorectal cancer (CRC) is currently a well-known and studied issue in experimental research. Worldwide it is the third most common cancer in men and the second most common cancer in women. 70-80% of cases occur sporadically.

Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.

Autosomal recessive forms of Charcot-Marie-Tooth disease (CMT) account for less than 10 % of all CMT cases, but are more frequent in the populations with a high rate of consanguinity. Roma (Gypsies) are a transnational minority with an estimated population of 10 to 14 million, in which a high degree of consanguineous marriages is a generally known fact. Similar to the other genetically isolated founder populations, the Roma harbour a number of unique or rare autosomal recessive disorders, caused by "private" founder mutations.

The frequency of factor V Leiden and prothrombin G20210A mutations in Slovak and Roma (Gypsy) ethnic group of Eastern Slovakia.

Factor V Leiden and prothrombin G20210A are the two most prevalent causes of inherited thrombophilia. The prevalence of these mutations varies widely in healthy Caucasian population. The aim of our study was to determine the frequency of factor V Leiden and prothrombin G20210A mutations in Slovak and Roma ethnic group from Eastern Slovakia.

Unique frequencies of HFE gene variants in Roma/Gypsies.

The aim of this study was to assess the frequencies of three hemochromatosis gene (HFE) mutations in ethnic Roma/Gypsies in Slovakia. A cohort of 367 individuals representing general population and not preselected for health status was genotyped by TaqMan real-time PCR assay for C282Y, H63D and S65C mutations in HFE gene. A unique genetic profile was revealed: C282Y is found in the highest frequency of all Central European countries (4.

Association of the FTO rs9939609 polymorphism with obesity in Roma/Gypsy population.

The rs9939609 SNP located in the first intron of the fat mass and obesity associated gene (FTO) has been found to be associated with common obesity mainly in populations of European descent. The Roma/Gypsy population as an ethnic minority of Asian Indian origin is well known for its adverse health status with a high prevalence of obesity. The main aim of this study was to examine the contribution of the rs9939609 FTO polymorphism to the high prevalence of obesity in the Roma/Gypsy population.

Use of direct sequencing for detection of mutations in the BCR-ABL kinase domain in Slovak patients with chronic myeloid leukemia.

The presence of BCR-ABL oncogene mutations in patients with chronic myeloid leukemia (CML) may be responsible for the failure of tyrosine kinase inhibitor (TKI) treatment. The aim of the study was to evaluate the frequency of BCR-ABL gene mutations in patients with CML treated with tyrosine kinase inhibitors. Our lab received 64 samples (34 women, 30 men) from patients with CML who failed or had suboptimal response to TKI treatment.

DNA analysis of Y chromosomal AZF region in Slovak population with fertility disorders.

Background: The Y chromosome is characterized by a low number of functional genes, relatively high number of repetitive sequences and the ability of recombination purely by short arms of telomeres PAR1 and PAR2. The long arm contains an AZF region with genes participating in spermatogenesis. Microdeletions of three subregions, namely AZFa,b,c and their mutual combinations are responsible for male infertility and the resulting azoospermia and oligospermia.

Incidence of microdeletions in the AZF region of the Y chromosome in Slovak patients with azoospermia.

Aims: The Y chromosome accumulates male-related genes including sex-determining region of Y-chromosome (SRY) and several spermatogenesis-related genes. The long arm contains azoospermia factor (AZF) region (including sub-regions AZFa, AZFb and AZFc). Microdeletions in this region are responsible for azoospermia and oligospermia and result in the male infertility.

[DNA analysis on Y chromosomal AZF region deletions in Slovak population].

Objective: Study on Y chromosomal AZF region deletions in Slovak population, application of DNA technique.

Design: Genetic-prospective study.

Setting: Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava.

Genetic analysis of KRAS mutation status in metastatic colorectal cancer patients.

Colorectal carcinoma (CRC) represents a serious problem worldwide: in the Slovak republic are diagnosed about 2600 new CRC cases annually and its incidence is increasing. Colorectal cancer patients may succumb to the disease because of local recurrence or local formation of metastasis. Therefore, it is necessary to modulate therapeutic algorithm with new methods, leading to early diagnostic of CRC or changing the existing therapeutic procedures.

Identification of a novel mutations BRCA1*c.80 + 3del4 and BRCA2*c.6589delA in Slovak HBOC families.

Mutations in the BRCA1 and BRCA2 genes account for the majority of hereditary breast ovarian cancer (HBOC) cases. However, after BRCA1 and BRCA2 screening still the most HBOC cases remain negative for any mutational event. Accordingly, in these cases raises the relevance to analyze the unusual BRCA1/2 variants of uncertain clinical significance.

Evolution of ventricular function during permanent pacing from either right ventricular apex or outflow tract following AV-junctional ablation for atrial fibrillation.

Aims: To compare acute and chronic ventricular function between patients, without cardiac failure, paced at either right ventricular apex or outflow tract.

Methods: Twenty patients. 10 paced apically and 10 in the outflow tract, underwent two radionuclide ventriculograms.

Reduction of symptoms from LVOT tachycardia following inadvertent fast pathway ablation.

VT was mapped to above the aortic valve in a young patient with troublesome palpitations. A single 15-second RF application was inadvertently delivered to a reference His catheter producing permanent first-degree heart block. The patient has been completely asymptomatic since.

Radiofrequency ablation of haemodynamically unstable ventricular tachycardia after myocardial infarction.

Objective: To determine whether radiofrequency (RF) ablation might have a role in haemodynamically unstable ventricular tachycardia.

Methods: 10 patients with a history of ventricular tachycardia producing haemodynamic collapse in whom drug treatment had failed and device therapy was rejected underwent RF ablation of ventricular tachycardia in sinus rhythm. The arrhythmogenic zone was defined on the basis of abnormal systolic movement, the presence of fragmentation (low amplitude, prolonged multiphasic electrograms), and pace mapping.

PCR based diagnosis of 21-hydroxylase gene defects in Slovak patients with congenital adrenal hyperplasia.

Objective: To analyse 21-hydroxylase gene for 8 most common mutations in patients with salt-wasting type of congenital adrenal hyperplasia.

Methods: Allele specific PCR performed on 8 salt-wasting CAH patients and their 23 healthy relatives.

Results: Two patients were homozygous for 8 bp deletion in exon 3, while 6 patients were homozygous for intron 2 splice mutation.

[Indirect diagnosis of type I neurofibromatosis using RFLP in Slovak families].

Neurofibromatosis type I clinical diagnosis confirmation as well as antenatal diagnostics of the disease are recently provided by molecular genetics. The authors analyze 17 Slovak families with multiple NFI incidence, in whom the detection of mutated gene transfer was performed using indirect diagnostics-bound with of restrictive fragments length polymorphism RFLP. With the help of PCR 7 polymorphic sequencies were amplified and subsequently broken with restrictive endonucleases localized close to the neurofibrin gene.

[Detection and diagnosis of hereditary monogenic neurologic diseases in Slovakia].

Authors present a clinical symptoms recapitulation of the most important monogenic hereditary neuromuscular diseases, their molecular-genetic causes and the possibilities of diagnostic on the level of DNA analysis. Low detectability of these pathologic states in Slovak republic is stressed and possible causes of this state are analyzed. (Ref.

[Diagnosis of Duchenne and Becker muscular dystrophy in Slovak patients using multiplex polymerase chain reaction].

The authors of the paper describe the diagnostic method of deletion in the dystrophin gene by means of an improved variant of the polymerase chain reaction--so called multiplex PCR. The authors analyzed a group of 66 patients with developed clinical symptoms of the disease. The deletion screening included 22 exones of the dystrophine gene and it was performed in 5 multiplex PCR reactions.

[Arrhythmogenic right ventricular dysplasia].

Arrhythmogenic dysplasia of the right ventricle as a nosological entity was described relatively recently. However, at present, it is gradually being diagnosed more frequently. The authors describe the typical clinical picture of this disease in one of several patients with this disease, who were hospitalised at SUSCH.

[Diagnostic and therapeutic potential of transesophageal cardiac pacing in the management of patients with arrhythmias].

Background: Transoesophageal cardiostimulation is a semiinvasive method of stimulation of atrii enabling the performance of the programmed atrial stimulation without the inevitability of an invasive vascular approach. This method was used in 124 patients with the following indication spectrum. Diagnostic indications: total 82%, paroxysmal supraventricular tachycardia (SVT), and WPW sy-22%, tachycardia with wide QRS-complex-8%.

[Electrophysiologic and electrocardiographic aspects of the transplanted heart].

Specific electrophysiological properties of transplanted heart are caused mainly by complex surgery, suppression of autonomic innervation, and allograft rejection. Interpretation of ECG may be difficult because of two P waves. The other most prevalent ECG abnormalities are: incomplete or complete right bundle branch block, shift of QRS axis to the left, shorter QT interval, decreased precordial voltage.