<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml">Chronic lymphocytic leukemia (CLL) is the most frequent type of adult leukemia in Western countries. Recently, new molecular prognostic markers like 17p deletion, 11q deletion, 13q deletion, trisomy 12, the mutational status of the immunoglobulin variable heavy chain genes (<italic>IGHV</italic>) genes, expression of ZAP-70 and CD38 were identified as prognostically significant. The CLL patients with mutated IGHV have a more favorable prognosis while non-mutated cases with the mutation's number less than 2% compared to the germline sequence suffer from more aggressive diseases. Here, we describe a clinical laboratory method for the detection of the mutation status of IGHV in patients with CLL using reverse transcription PCR and dideoxysequencing, and the evaluation using two immunoglobulin databases IMGT/V-QUEST and IgBLAST. We analyzed 37 different clonal rearrangements in 35 patients. Using two different databases, we identified 13 mutated and 24 non-mutated clones. The most preferred subfamilies were VH1, VH3, and VH4. The CLLs using the subfamily 1-69 were all non-mutated. Unlike previous reports, there were no significant differences between the used databases observed. The clinical trials are already incorporating new prognostic molecular markers such IGHV mutational status, so it is important to use standardized clinical laboratory methods and databases for a reliable identification of the mutation status in CLL.</abstract>

Department of Molecular Biology, Comenius University, University Hospital in Martin

Department of Pathological Anatomy, Comenius University, University Hospital in Martin

Department of Hematology and Transfusiology, Jessenius Faculty of Medicine, Comenius University, University Hospital in Martin

National Cancer Institute in Bratislava, Slovak Republic

Clinical Laboratory Method for Detection of IGHV Mutation Status in Patients with CLL Validated by Igblast and IMGT/V-QUEST

<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml">Aim: Time factor in the treatment of advanced head and neck tumors undoubtedly affects local tumor control and overall survival of treated patients. The aim of this work was to analyse individual time periods of radiation therapy, emphasising the role of enteral nutrition via gastrostomy tube (GT).Methods: Patients with cancer of head and neck region are in 70-80% cases diagnosed in locally advanced stage; the majority of cases are complicated by various degrees of malnutrition. Radiation therapy of malignancies in the head and neck region is accompanied by considerable acute toxicity, manifested by severe odynophagia, dysphagia, xerostomia and/or dysgeusia. Toxicity of chemoradiotherapy worsens the unfavourable nutritional state of patients and it often causes unplanned treatment gaps. Prophylactic GT placement effectively mitigates adverse effects of radiation therapy. In the retrospective analysis of 83 patients, the effect of GT on individual intervals of concomitant chemo-radiotherapy was evaluated. We focused on the time interval between diagnosis and the beginning of the treatment. Next, the length of treatment gaps, caused by acute toxicity, was compared between the two groups of patients - without GT and with GT. Finally, body weight loss during the treatment and overall survival were compared in these two groups of patients.Results: The time interval diagnosis-chemoradiotherapy for patients diagnosed and treated in University Hospital Martin (UNM) was on average 35.1 days, compared to 49.6 days for patients who were diagnosed in other hospitals and treated in UNM. Toxicity of radiotherapy in the treatment of patients with malignancies in the head and neck region is associated with a high risk of treatment interruptions. Treatment gaps caused by acute radiotoxicity were on average 4.1 days for patients with inserted GT, compared to 6.8 days for patients without GT. Weight loss was on average 4.4 kg for patients with GT, compared to 7.0 kg in the reference group of patients without GT. Median survival in the group of patients with GT and without GT was 787 and 366 days, respectively.Conclusion: The results of retrospective study confirm that gastrostomy tube placed before the start of radiotherapy treatment markedly affects the time intervals in the treatment of head and neck cancers. It reduces undesired gaps in concomitant chemoradiotherapy and consequently it improves overall survival. Gastrostomy tube nutrition is an established method to provide patients with enteral nutrition and hydratation during manifestations of chemoradiotherapy toxicity, which means reduction of weight loss during the treatment, improvement of morbidity, less frequent need for parenteral support treatment - so that the majority of patients can undergo an outpatient treatment and retain an adequate quality of life.</abstract>

Oncology Center, University Hospital Martin

Department of Otorhinolaryngology, Head and Neck Surgery, Comenius University and University Hospital Martin

Department of Biology, Jessenius Faculty of Medicine, Comenius University and University Hospital Martin

Healthcare Surveillance Authority, Martin, Slovak Republic

Time Factor and the Role of Gastrostomy Tube Placement in the Treatment of Advanced Head and Neck Tumors

<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml">Presence of fetal cells and circulating free fetal DNA and RNA in maternal circulation represents the basic concept in developement of non-invasive prenatal diagnostic methods based on molecular biology and genetics. We introduced new methods for free fetal DNA isolation and detection in maternal circulation via DNA isolation from maternal plasma using real-time PCR SYBRGreen targeting and newly designed primers focused in SRY sequence. We determined gender in 46 singleton pregnancies, 22 boys and 24 girls and assessed the analytical and clinical validity. We reached 95.45% sensitivity and 95.83% specificity. We suggest improvements in molecular-biological procedures in the discussion, which could be used in studies of clinical utility of non-invasive prenatal diagnosis (NIPD) in decreasing amount of invasive procedures unnecessarily performed.</abstract>

Clinic of Gynecology and Obstetrics, Comenius University and University Hospital, Martin, Slovak Republic

Department of Molecular Biology, Jessenius Faculty of Medicine, Comenius University and University Hospital, Martin, Slovak Republic

Non-Invasive Fetal Sex Determination Using SRY Specific Primers and Sybrgreen Real Time PCR

<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml">This paper presents an overview of cardiac chronotropic regulation determinants in newborns, which are reflected in mean heart rate (HR) and heart rate variability (HRV). Heart rate and heart rate variability in newborns are determined by many factors. Heritability and maturation play major role. Factor of the maturation can be seen in HR and HRV differences between healthy full term and preterm newborns as well as in changes over early postnatal time. These parameters in newborns are influenced also by many other factors as gender, nutrition, sleep, breathing pattern/ventilation, etc.Autoregulation and extrinsic regulation of cardiac activity has its own specificities in newborns. Homeometric mechanism (depended on HR) is dominant and baroreflex sensitivity is reduced, mainly in premature newborns. Complex cardiac regulation can be studied and evaluated by cardiac reflexes. Examination of the reflexes in newborns is limited. Therefore, new approaches for the study of maturation cardiac control are developed taking into consideration all cardiac activity in newborns determinants.</abstract>

Determinants of Heart Rate in Newborns

<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml">Lyme borreliosis is the most frequent anthropozoonosis in the Northern Hemisphere. The primary vector of disease transmission is the tick Ixodes ricinus (in Europe), and given its seasonal activity, the highest incidence of the disease early stages is in summer. People professionally exposed to a tick and other insect bite have a higher prevalence of positive serum antibody levels compared to the general population. The aim of this prospective study was to determine the levels of positive antibodies in professional soldiers after a tick bite, and also to determine the risk of occupational infection - Lyme disease.We analyzed the serum samples taken from 95 professional soldiers, who were exposed to ticks in July 2010. The sera were taken 6 weeks after the exposure to ticks (Ixodes) in the mountains of Javorie. The ELISA method was used to examine the sera at the Institute of Microbiology in Ruzomberok, General Military Hospital. In the case of positive antibodies against Borrelia burgdorferi, the Western blot method was used. The risk of infection was 6.31 %.</abstract>

Lyme Borreliosis - Risk of Occupational Infection

AHEAD OF PRINT

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Acta Medica Martiniana

 Acta Medica Martiniana is a medical scientific journal, first published in print form in December 2001. It is a continuation of the journal / almanac Folia Medica Martiniana (1971 - 1996). The journal‘s owner is the Jessenius Faculty of Medicine, Comenius University, Slovakia. The aims and scope of the AMM:   Dissemination of research results and scientific knowledge from all areas of medicine and nursing.  Stimulation, facilitation and supporting of publication activity for the young medical research and clinical generation. The contributions of young novice authors (PhD students and post-doctorials) are particularly welcome.   Acta Medica Martiniana (AMM) publishes, and here only in English, high quality original papers (in extenso and short-rapid communications), case reports as well as review articles.  Acta Medica Martiniana is an open-access journal, with a periodicity of publishing three times per year (Apr/Aug/Dec). It covers a wide range of basic medical disciplines, such as anatomy, histology, biochemistry, human physiology, pharmacology, etc., as well as all clinical areas incl. preventive medicine, public health and nursing. Interdisciplinary and multidisciplinary manuscripts, including papers from all areas of biomedical research, are welcome.  All articles are submitted to a peer-review process. They are peer-reviewed anonymously (double blind) by external experts pursuant to the standard evaluation criteria. Based on the reviewers opinions, the Editorial Board will decide whether a paper is to be included in the journal.  Rejection Rate:   15-30%   Archiving  Sciendo archives the contents of this journal in Portico - digital long-term preservation service of scholarly books, journals and collections.  Plagiarism Policy  The editorial board is participating in a growing community of Similarity Check System's users in order to ensure that the content published is original and trustworthy. Similarity Check is a medium that allows for comprehensive manuscripts screening, aimed to eliminate plagiarism and provide a high standard and quality peer-review process. 