Loss of heterozygosity testing using real-time PCR analysis of single nucleotide polymorphisms

Purpose: Colon cancer is a genetic disease, caused by mutations in different oncogenes and tumor-suppressor genes. The aim of this study is to evaluate the usefulness of real-time PCR SNP analysis as a new technique in the loss of heterozygosity (LOH) analysis at the E-cadherin gene locus in sporadic colon cancer. Methods: One-hundred cases of human sporadic colon cancer and corresponding normal tissue samples were analyzed using two flanking polymorphic markers commonly used in the LOH analysis at the E-cadherin gene locus by conventional VNTR–LOH analysis. Two intragenic E-cadherin SNP markers were analyzed using real-time PCR SNP analysis. Results: LOH (17.6%) was detected using flanking markers, however, no LOH was detected when the intragenic E-cadherin SNP markers were introduced into our study. Since these markers are intragenic they more accurately represent the status of the E-cadherin gene than the previously used flanking markers. Conclusion: In conclusion, real-time PCR SNP analysis was found to be more accurate, faster, simpler, and a more high-throughput method than the conventional VNTR–LOH analysis.     

Correlations between electrophysiological parameters of the heart, blood gas composition and hemodynamics in patients with chronic obstructive bronchitis]

AIM: To elucidate correlations between gas composition of blood, hemodynamic and electrophysiological parameters of the heart and effect of these indices on arrhythmia onset in patients with chronic obstructive bronchitis (COB). MATERIAL AND METHODS: "Rhythm" ECG, 24-h ECG monitoring, transesophageal pacing, heart ultrasonography were performed in 160, 67, 160 of 160 patients with chronic obstructive bronchitis (COB), respectively. 76 patients suffered from respiratory insufficiency (RI) degree 1 and 84 of RI degree 2. 58 patients free of RI served control. Gas composition of the blood and acid-base balance of the capillary blood were examined in 50 patients. RESULTS: Shortening of effective refractory atrial period and prolongation of interatrial conduction predispose to emergence of suptaventricular arrhythmia in COB patients with RI. With the onset and development of RI in COB patients, heart chamber size and myocardial function become more and more essential for cardiac electrophysiological parameters. For COB patients free of RI, gas composition of capillary blood is of key importance in this respect. CONCLUSION: The proposed complex clinicofunctional method for assessment of electrophysiological condition of the heart with evaluation of intracardiac hemodynamics and gas composition of the capillary blood is recommended for registration of signs of the onset and unfavorable progress of cardiac arrhythmia in COB patients with RI as well as for objective and safe control over effectiveness of treatment of such patients.     

Improvement of postoperative radiotherapy in the complex treatment of stage II-III cervical cancer

Clinical data on the management of squamous-cell cervical carcinoma stage II-III FIGO are presented. At stage I, treatment included neoadjuvant polychemotherapy (NACT)--cisplatin 100 mg/m2, carboplatin 450 mg/m2 in conjunction with 5-FU 250 mg/m2 or paclitaxel 135 mg/m2. According to protocol, two identical courses of NACT were given, at 21-28 day interval, followed by extended extirpation of the uterus (Wertheim). Immediate results and complications caused by preoperative radiotherapy, important for postoperative one, were evaluated, concepts and strategies for postoperative intracavitary and distant radiotherapy worked out. To optimize radiotherapy, dosage was reduced by 10% or daily single target dose of intracavitary and distant irradiation split per 24 hrs, indications for preoperative radiotherapy variants were extended, and local dosage escalation in areas of lymphocyst or hematoma renounced. Overall survival was 85%, recurrence-free--77.5%.     

Molecular genetic haplotype segregation studies in three families with X-linked lymphoproliferative disease

Three families with X-linked lymphoproliferative disease were studied. Affected males clinically presented with severe or fatal infectious mononucleosis, acquired hypogammaglobulinaemia, hypergammaglobulinaemia M, and malignant lymphoma including Hodgkin disease. Haplotype analysis using various DNA markers from Xq25-q27 allowed the prediction of the carrier status in females and identification of the XLP status in asymptomatic males.     

Disrupted function of the cardiovascular system in fulgurant sepsis

The condition of cardiodynamics and the toxic properties of venous blood plasma in fulgurant staphylococcal sepsis were studied in 30 experiments on dogs. The values of myocardial contractile activity, the heart pumping function, and systemic hemodynamics were recorded. Blood plasma toxicity was determined according to the paramecium test and the content of medium-molecular peptides. A correlation between the degree of disorders of myocardial contractile activity and the degree of toxemia was revealed.     

The assessment of liver function in local suppurative processes (experimental research)]

The function of the liver was studied on an experimental model of a local purulent process in 40 rabbits. It is shown that a local purulent process may cause a hepatic damaging effect, the presence of which is confirmed by the active egress of the organ-specific enzymes histidase and urocaninase into the blood. Determination of these enzymes in blood serum is an authentic test which characterizes damage to the hepatic cells in a local purulent process. Appraisal of the functional condition of the liver in local purulent processes may be employed in clinical practice for early detection and timely treatment of possible hepatotoxic damage.     

Characteristics of immune complexes in myocardial infarct

Nonspecific circulating immune complexes (CIC), different in size and stability, are detectable in the blood sera of patients with myocardial infarction; changed concentration of these complexes appears to be a reflection of the defense response of the body, aimed at homeostasis maintenance. No relationship between cardiac glycosides and CIC levels was revealed in patients with myocardial infarction. A reduction of the level of 'large' CICs by days 21-30 of the condition was observed in the patients treated with anticoagulants from the first day of the disease. A low CIC level in the acute period of the disease is a prognostically unfavorable sign in respect of the outcome of the condition.     

Automated radiotherapy in the combined treatment of locally advanced and disseminated ovarian cancer

The paper deals with the results of treatment of 110 patients with advanced ovarian cancer showing signs of tumor progression following polychemotherapy with two regimens which included radiotherapy. Variants of distant and contact irradiation individually-tailored to suit the types of tumor are discussed. Details of single and repeated courses of chemoradiation are presented. Such beneficial effects as longer survival and better quality of life were registered in 76%.     

Unusual case of OHVIRA syndrome with a single uterus,unrecognized before labor and followed by an intrapartal rupture of obstructed hemivagina

Purpose

The acronym for obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) was created to describe patients with an obstructed hemivagina and ipsilateral renal anomaly and enables inclusion of other uterine anomalies except uterus didelphys. The main goal of this article is to present a rare case of OHVIRA syndrome with intrapartal rupture of obstructed hemivagina.

Methods

We present an unusual case of OHVIRA syndrome with single uterus, uterine septum (previously resected by hysteroscopy) and renal agenesis, unrecognized before labor and followed by an intrapartal rupture of obstructed hemivagina.

Results and conclusion

Various symptoms, included in OHVIRA acronym, are a result of different morphologic variants included in this syndrome. Most likely, in our case, the absence of communication between the cervical canal/patent vagina and the obstructed hemivagina prevented formation of mucocolpos or hematocolpos. This rare clinical variant made our MRI diagnosis of obstructed hemivagina, as well of the entire OHVIRA syndrome, ineffective. We did not find OHVIRA cases in the literature with a single septate uterus and single cervix, associated with obstructed hemivagina diagnosed during and after labor and presented with intrapartal rupture of hemivagina. Because of lack of guidelines, the final decision about management of the labor in such rare cases of OHVIRA syndrome is difficult.