ISI Master Journal List

This paper presents a comprehensive Y-chromosomal STR haplotype analysis in the Lithuanian population in order to evaluate Lithuanians’ Y chromosome diversity, to infer genetic relations between Lithuanian and other European neighbouring populations and to introduce population reference data for generation of reliable Y-STR haplotype frequency estimates to be used in the quantitative assessment of Y-STR haplotype match in the forensic casework Data were collected from the peripheral blood samples of 194 unrelated males throughout various regions of Lithuania. The amplification of 17 Y-STRs was carried out in one multiplex PCR using an AmpFZSTR® Yfiler™ PCR Amplication Kit according to the suppliers protocol. The results indicated that the Y-chromosomal haplotype diversity in the Lithuanian population rises as the number of the analyzed Y-STRs is increased. However, all additional Y-STR loci are not hypervariable and only their whole makes a large diversity of Y-STR haplotypes in Lithuanian males. The analysis of molecular variance revealed low but significant interpopulation differences except the pair of Lithuanian and Latvian populations. The phylogenetic analysis showed that the clustered Y chromosome gene pool of Lithuanians and Latvians has a closer phylogenetic relation to Russian and Estonian populations and is less genetically related to other neighbouring populations of Belarus and Poland. Yet Y-STRs alleles and haplotypes differentiate effectively inside the Lithuanian population and between Lithuanians and its geographical neighbours excluding the Latvian population. [...]

Background. An increased incidence of serum alpha1-antitrypsin deficiency has been reported in patients with chronic obstructive pulmonary disease but has not been well proven in association with spontaneous pneumothorax. The aim of our study was to evaluate frequency of alpha-1 antitrypsin deficiency in subjects with spontaneous pneumothorax. Methods. 39 patients with the diagnosis of spontaneous pneumothorax and 100 age- and sex-matched control subjects were included in the study. Alpha-1 antitrypsin concentrations were determined by nephelometry, Serum qualitative Z antitrypsin variant was analyzed using commercial ELISA kits and alpha-1 antitrypsin phenotyping was carried out by means of isoelectric focusing. Results. AAT deficiency phenotypes were detected in 3 (7.7%) patients with spontaneous pneumothorax, and only in 1 (1%) case in the control group. However, the observed differences did not reach statistical significance due to the considerable size disproportion between groups. The mean serum alpha-1 antitrypsin level was significantly higher in patients with spontaneous pneumothorax (1.53±0.23 g/l) than controls (1.34±0.31 g/l) (p=0.03). Conclusions. Preliminary data confirm the clinical importance of alpha-1 antitrypsin deficiency genotypes in patients with spontaneous pneumothorax and the need to screen them for alpha1-antitrypsin deficiency.

Genetic science related to the individual as the main subject of the research is exposed to a wide range of ethical and legal issues. From the developments in genetic science other science have evolved, thanks to which the modern world is able to protect the genetic information of data, and to receive the sanction while ignoring the laws of such data. However, there are still many problems related to the protection of personal genetic information, such Regulatory standards, the inviolability of an individual, the assurance of freedom and privacy of information. Genetic discrimination is strictly forbidden by international conventions and declarations (Convention on Human Rights and Biomedicine, Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Biomedical Research, Directive 95/46/EC of the European Parliament), which means that discrimination on grounds of personal genetic information (diseases, abnormalities) is not available in all areas, including employment and insurance. However, individuals face some problems unable to get a job due to the publicity and information disclosure to their employers, or increasing the amount of insurance premiums. It is essential to protect genetic rights, because of that any form of discrimination against a person on grounds of his genetic heritage is prohibited and intervetion in the health field or disclosure of such information may only be carried out after the person concerned has given free and informed consent to it.

Epigenetic modifications of DNA might be crucial for understanding the molecular basis of mood disorders. One reason for this is that epigenetic factors are sometimes plastic enough to react the external and internal environments. New scientific studies suggest, that these environmental factors can be not only food or chemicals, but also spiritual: positive emotional state, optimism, reaction to stress. The aim of this manuscript is to provide a conceptual background for studies by reviewing key findings from different forms of investigation. In order to provide an understanding the role of genetic and environmental (spiritual) factors in the causation of mental disorders here is a simplified account of some of the key features of how genes ‘work’. Results of that review indicate that of particular interest, traumatic events or negative mind content may potentially alter our DNA methylation pattern and induce abnormal brain gene expression and ultimately depression, and other mood disorders. In summary, this review demonstrates that an epigenetic state of a genes responsible for mental health can be established through life experience and thinking manner and is potentially reversible.

Kartagener’s syndrome is an autosomal recessive disorder primarily manifesting as ciliary movement disorder. Kartagener’s syndrome is part of the larger group of disorders referred to as primary ciliary dyskinesias (PCD). Although the condition is usually inherited in an autosomal recessive pattern, and some specific gene defects have been recognized, it is clear that the syndrome shows substantial genetic heterogeneity. The incidence of this genetic disorder is estimated to be between 1 and 2 per 30 000 births. Symptoms result from defective cilia motility in the airways. The recurrent pulmonary infections are caused by the grossly impaired mucociliary transport in the respiratory tract causing stasis of the mucus within the bronchi. Progressive and significant lung damage occurs up to the time of diagnosis. Although the management of patients with Kartagener’s syndrome remains uncertain and evidence is limited, it is important to follow up these patients with an adequate and shared care system. This report presents a clinical case of Kartagener’s syndrome in a 25-year-old woman. Computed tomography showed dextrocardia and bronchiectasis. After 7 years, good treatment results were achieved: radiological findings and lung function were improved. The present clinical case demonstrated reversibility of bronchiectasis even in congenital Kartagener’s syndrome, thus indicating, that bronchiectasis progression is a complex interrelationship among genetic variation and a proper nonspecific management.

Holt-Oram syndrome (HOS) is caused by TBX5 gene mutation and it is estimated to affect 1 of 100 000 individuals. This condition is inherited in an autosomal dominant pattern, but most cases result from new mutations in the gene. HOS is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. The diagnosis of HOS can be established clinically. Clinical signs include upper limbs malformations, anomalous heart structure (eg. atrioseptal and ventriculoseptal defects or Fallot tetrada) and cardiac conduction disease, which can cause bradycardia or tachycardia. HOS can be confirmed through TBX5 gene mutation molecular genetic testing - DNA sequence analysis or array comparative genomic hybridization (array CGH). A case report of Holt-Oram syndrome in 6 month girl is represented from Kaunas hospital of LUHS, when mother has been taking a valproic acid 500mg/day during pregnancy for epilepsy treatment. The antiepileptic drug valproic acid has teratogenic side effect and is a potent inducer of neural tube defects and other abnormalities, such as cardiac, skeletal and limb deffects. When valproic acid cannot be avoidened in pregnancy, the lowest possible effective dose should be prescribed. Also it is recommended to use folic acid to 5 mg/day. A usage of folic acid should be started before pregnancy, so family planning and prenatal consultation is recommended for women with epilepsy.

The following objectives have been set: to frame the concept and the requirements for informed consent, to analyse the legal acts of the Republic of Lithuania covering the issues regarding informed consent, to analyse types of and indications for paternity testing and to name legal and ethical problems arising from application of the informed consent. The concept of informed consent is based on the principle of autonomy. The obligation of doctors to inform patients is inseparable from the requirement to receive informed consent. The two parts are mandatory for any medical procedures and interventions. The main requirements for the informed consent include rationality, sufficient and clear information, free will and the form of consent conforming to the legal acts. However, the informed consent is not an absolute requirement as the patient has a right to remain uninformed. Additionally, under certain circumstances it might be impossible to inform patients or to receive consent from patients or their duly authorised representatives. The main problems of the informed consent in paternity testing, by outlining two stages of the process: conveyance before testing and interpretation of the results with it’s effectivenes.

Backround: Pregnant women are referred to genetic counselling when there are increased risk factors to a fetus. Often this is associated with increased stress or lack of information. The aim of the study was to identify the reasons why women attend genetic counselling, and their actions if a genetic disease would be found in their fetus. Methods: A prospective analysis was based on original genetic questionnaire given to 277 pregnant women who were attending genetic counselling in LSMU central policlinic. The gathered data was analyzed using statistic program SPSS 17. The results‘ significance were assessed by Chi square test, with the level of confidence at 95% Results and conclusions: 1. Most women attend genetic counselling due the older age, family history with hereditary disease. 2. Half of the patients would choose amniocentesis if there is found an increased risk for genetic disease. One third would choose amniocentesis because of the genetic decision. 3. Women, who do not agree with abortion, would like to get more information about keeping pregnancy before conception. 4. Most women (52%) would consult firstly with their husbands about the keeping the pregnancy. 16% would choose pregnancy termination, 10% would keep pregnancy. 5. More than half of women would choose termination of pregnancy when fetus is diagnosed with disease incompatible with life. Other would choose to give birth and leave everything to natural course.

Backround: The effect of psychoactive substances on fetal developement has recently become a great concern. There‘s not enough data regarding this subject. Methods: A retrospective study of cases from year 2009-2010 included 20 cases of pregnant women who were exposed to psychoactive drugs during their pregnancy. A control group of 30 cases of pregnant women who were not exposed to any psychoactive substances was randomly selected. Out of these cases the data of the use of drugs during pregnancy, prenatal utrasound evaluation (nuchal translucency thickness, morpho-pathologic alterations of organs), biochemical prenatal tests (markers indicating the risk of Down‘s syndrome and spina bifida) was collected. Results and conclusions: No pathologic fetal ultrasound findings were observed in the control group of 30 pregnant women who didn‘t use antipsychotic drugs during pregnancy. Pathological fetal ultrasound findings (minor) were observed in 3 out of 20 pregnant women treated with psychoactive substances. The strongest associacion was observed between neuroleptics and ultrasound changes, p<0.01. Pathological fetal ultrasound findings were observed in 3 out of 13 pregnant women exposed to neuroleptics during pregnancy. The relationship between exposure to antidepressants and pathological ultrasound findings was statistically significant, p<0.038. Pathological fetal ultrasound findings were observed in 2 out of 8 cases of antidepressant treatment during pregnancy. The relationship between exposure to psychoactive substances during pregnancy and biochemical markers indicating the risk of Down‘s and Edward‘s syndromes and spina bifida was statistically insignificant. No increased risk of spina bifida was observed in any group of patients.