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The aim of this research is to examine the difference in the contribution of the created multimedia models and the traditional teaching to the quality and durability of the students' knowledge of geographical content at all cognitive levels in the fourth grade of the primary school (10-11 years). This research included a sample of 142 students, divided into two groups: E (experimental) and C (control). The students in the C group were taught in the traditional way and the students of the E group taught using the created multimedia models. The quality of students' knowledge was examined by a post-test, while the durability of knowledge was examined by re-test. Variations in knowledge on post-test and re-test in both groups were observed at cognitive levels. At a higher cognitive level (analysis), students were better at retesting than at a post-test. In the application of geographic contents in the fourth grade, multimedia teaching (MT) should be given priority over traditional teaching (TT).

Myelodysplastic syndromes (MDS) are clonal hematologic stem cell disorders with an as yet unknown molecular pathology. Genetic instability has been proposed as a cause of MDS. Mutations in the NBS1 gene, whose product nibrin (p95) is involved in DNA damage repair and cell-cycle control, might be associated with an elevated predisposition to the development of MDS. The aim of the study was to examine truncating 5 bp deletion (657del5), the most frequent NBS1 gene mutation in Slavic populations, in MDS patients. Among 71 MDS patients, we found one case that was heterozygous for the NBS1 657del5 mutation. To the best of our knowledge, this is the first report of a NBS1 mutation in MDS. [Projekat Ministarstva nauke Republike Srbije, br. 175091]

The effect of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism on serum lipid profiles is controversial. We randomly selected 530 healthy schoolchildren that were included in the Yugoslav Study of the Precursors of Atherosclerosis in School Children (YUSAD). The detected frequencies of MTHFR 677TT genotypes and MTHFR 677T allele were 13.4% and 35.5%, respectively. The mean levels of total cholesterol, low-density lipoprotein cholesterol and triglycerides were higher and high-density lipoprotein cholesterol was lower in the group of children with TT genotype compared with remaining genotypes. All differences were without statistical significance. Our findings suggest that there is no influence of MTHFR C677T gene variants on the lipid parameters in the population of Serbian children. [Projekat Ministarstva nauke Republike Srbije, br. 175091]

Modern concepts of education include the continuous development of primary teachers in all areas of natural, social and mathematical sciences. The obtained results were selected and differentiated facilities for further education of teachers within the model of professional development. Analysis of teachers' knowledge was made on the basis of results obtained using surveys. The study involved 60 primary teachers from Serbia. A descriptive analytical method, as well as a method of modeling was used. Survey was the research technique used. Results show that teachers are not sufficiently connecting and jointly implementing the contents of natural sciences and mathematics, because they lack a sufficient level of knowledge. It is necessary for them to further educate in the field of integrating the content of natural sciences and mathematics, scientific method and its applications (particularly in mini-projects) as well as in the application of quantitative experiments. This would affect the quality of teaching, their professional competence, as well as it would affect their lifelong education.

The aim of this study was to examine the regional distribution of opiate alkaloids from seized heroin in experimental animals' brain regions and blood. Results could be used in the examination of opiate alkaloids' distribution in human biological samples in order to contribute to the solution of the causes of death due to heroin intake. Experimental animals (Wistar rats) were treated with seized heroin, and were sacrificed at different time periods: 5, 15, 45 and 120 min after treatment. Opiate alkaloids' (codeine, morphine, acetylcodeine, 6- acetylmorphine and 3,6-diacetylmorphine) content was determined in the brain regions (cortex, brainstem, amygdala and basal ganglia) and blood of animals using gas chromatography-mass spectrometry (GC-MS) method. The highest content of opiate alkaloids in the blood was measured 15 min, and in the brain tissue 45 min after the treatment with heroin. The maximal concentration of opiates was determined in the basal ganglia. The obtained results offer the possibility of selecting this part of the brain tissue as a representative sample for identifying and assessing the content of opiates.

Duchenne and Becker muscular dystrophy (DMD/BMD) are severe X-linked neuromuscular disorders caused by mutations in the dystrophin gene. Our aim was to optimize a quantitative real-time PCR method based on SYBR® Green I chemistry for routine diagnostics of DMD/BMD deletion carriers. Twenty female relatives of DMD/BMD patients with previously detected partial gene deletions were studied. The relative quantity of the target exons was calculated by a comparative threshold cycle method (ΔΔCt). The carrier status of all subjects was successfully determined. The gene dosage ratio for non-carriers was 1.07±0.20, and for carriers 0.56±0.11. This assay proved to be simple, rapid, reliable and cost-effective.

Roots of chemical engineering in Middle Europe lead to the first mining and metallurgy academies, established in VIII century in Upper Hungaria and in Bohemian Kingdom. Chemical engineering skills originate from ancient Egyptian handicraft, alchemy, technical chemistry, pneumochemistry and phlogiston chemistry. Development of mining and metallurgy coincided with great scientific discoveries and industrial revolution. In Middle Europe, the first such academies were opened in St. Joachimstahl and in Schemnitz, and the first Serbian mining engineers Djordje Branković, Vasilije Božić and Stevan Pavlović studied, as well as the first chemistry professor of the High School in Belgrade, Mihajlo Rašković. Eminent professors were employed by the Schemnitz academy, such as: Nicol Jacquin, Giovanni Scopoli, Ignaz von Born and Christian Doppler. It is important to emphasize that Shemnitz practiced the first modern, practical laboratory education. In VIII century, Schemnitz Mining and metallurgy academy was the most contemporary educational insistution for engineers. However, in XIX century, mining and metallurgy academies stagnated, due to the replacement of professional academies with polytechnic schools, technical universities and scientific research institutes.

In this paper a part of the model of the curriculum, which should improve chemical education in primary schools is presented. The implemented module refers to metals and non-metals in the fields of applied chemistry and chemical industry. Contents of the curriculum from 1974 to 2004 are considered. The quantity and quality of the pupils' knowledge are analyzed. The research showed that the pupils' knowledge is low. The module is implemented for the sake of overcoming the observed drawbacks in the curriculum, which should facilitate further chemical education, especially in the field of chemical technology. Contents of the curriculum, ways of implementation of the contents, and methods for evaluation of the pupils' knowledge are proposed considering the results of the research. For this purpose the method of descriptive analysis and statistical methods are used.

The new conjugates of selected bile acids (hyocholic (2), deoxycholic (3), hyodeoxycholic (4) and 12-ketocholic (5) acids) with ethyl 11-aminoundecanoate 7, 8, 11, and 13 were synthesized. The conjugation reaction was carried out in ethyl acetate in the presence of N-ethoxycarbonyl-2-ethoxy-1,2-dihydroquinoline (EEDQ) and triethylamine. Under the same experimental conditions, the conjugation reaction involving ethyl 6-aminohexanoate resulted in formation of a conjugate 9 only in the case of deoxycholic acid (3) in addition to the unexpected ethyl ester 10. In the case of the other bile acids (cholic (1), hyodeoxycholic (4) and 12-ketocholic (5) acids) only an unexpected ester formation took place giving esters 6, 12, and 14. Cytotoxic activity against four tumor cell lines (human breast adenocarcinoma ER-, MDA-MB-231; breast adenocarcinoma ER+, MCF-7; cervix epiteloid carcinoma, HeLa S-3; and prostate cancer, PC-3) was evaluated. Conjugate 8 showed strong activity against HeLa S-3 and conjugate 11 for PC-3. Ethyl ester of 12-ketocholic acid 14 showed very strong antiproliferative activity against MCF-7 and HeLa S-3.

INTRODUCTION Our study of genetic homozygosity degree includes an analysis of the presence, distribution and individual combination of 15 selected genetically controlled morphophysiological traits in the sample of patients with spinal dysraphia (N=35) and in the control-healthy group (N=50). OBJECTIVE Assuming that spinal dysraphia is a genetically controlled disease, we made a hypothesis that an increased homozygosity level, as well as the changed variability among patients, could be a population-genetic parameter for the prediction of the illness. METHOD Taking into consideration our experience, as well as the experience of numerous scientists who studied the nature of the inheritance of monoand oligo-genically controlled qualitative traits, we applied a methodology to estimate the proportion of such homozygously recessive characters (HRC-test,). RESULTS This population-genetic study did not only show a statistically significant difference of the mean values of genetic homozygosity (SD 4.8±0.3; control 3.5±0.3), but of the differences in the type of distribution too, as well as the differences in the presence of certain individual combinations of such traits. CONCLUSION Due to the fact that those genes which control such qualitative recessive traits are distributed in different human chromosomes, being their visible markers, this could indicate that degrees of genetic homozygosity are ostensibly greater in a sample of patients with spinal dysraphia compared to the control group of individuals.

The aim of this paper is selection and analysis of articles with chemistry content in selected Serbian journals in the second half of the 19th century, which were aimed towards general public, in order to get insight into the level and quality of additional chemistry informing of readers. Two journals were selected, that contained entertaining, literature and scientific content ('Sedmica' and 'Vila'), and two other, with entertainment and literature nature ('Danica' and 'Matica'). The analyzed journals primarily addressed the general public and played an important role in readers' information and education. Historical method was applied in this research. The above-mentioned journals were analyzed separately, with the short historical survey. Complete editions of these journals were analyzed, and the selection of articles was made according to the textual content or the title itself. The chemistry content presented in these journals is of the great variety. Among other things, interesting comments of the chemical schoolbooks are found, as well as lectures on science.

The level of environmental pollution is influenced by the knowledge, behavior and ecological engagement of both the individual and society. The mineral fertilizer industry represents a potential source of pollution. The issue examined in this study is the level of eco-chemical knowledge, behavior and ecological engagement of the workers employed in the mineral fertilizer industry in Novi Sad. We have concluded that the workers hover low level of knowledge, behavior and engagement. The results obtained could be used for the selection of methods to enhance the eco-chemical knowledge of the employees.

The multistage syntheses of the p-toluenesulphonyloxy esters (1-benzyloxy-4-p-toluenesulphonyloxybutane (3a) 1-benzyloxy-6-p-toluenesulphonyloxyhexane (3b) and 1-benzyloxy-10-p-toluenesulphonyloxydecane (3c)(, alkyl chlorides (1-benzyloxy-4-chlorobutane (4a), 1-benzyloxy-6-chlorohexane (4b) and 1-benzyloxy-10-chlorodecane (4c)(, as well as alkyl iodides (1-benzyloxy-4-iodobutane (5a), 1-benzyloxy-6-iodohexane (5b) and 1-benzyloxy-10-iododecane (5c)( with the terminal O-benzyl groups starting from 1,4-butanediol (1a), 1,6-hexanediol (1b) and 1,10-decanediol (1c) were carried out. The possibilities of formation and addition of the corresponding Grignard reagent to the C-17 carbonyl group of dehydroepiandrosterone were investigated.

Background: Aim of our study was to evaluate degree of genetic homozygosity in male and female gender of spina bifida (SB) occulta and SB aperta patients. Patients and Methods: We evaluated 95 patients with SB occulta and 51 with SB aperta. Degree of genetic homozygosity was evaluated by direct observation of 15 homozygously recessive characteristics (HRC) by HRC-test separately for SB occulta and SB aperta participants. Additionally 370 individuals without SB from Serbia were randomly selected and evaluated as control group. Male and female gender was separately evaluated for assessing degree of genetic homozygosity. Results: There was no significant difference in mean values of HRC between male and female gender in control group (male gender -3.9±1.2, female gender -4.0±1.4, z=0.39; p>0.05), SB occulta (male gender -4.1±1.5, female gender -4.7±1.4, z=1.87, p>0.05) and SB aperta patients (male gender -4.3±1.6, female gender -4.5±1.4, z=0.66, p>0.05), while there was significantly increased recessive homozygosity in female SB occulta group versus control female group (Females: SB occulta -4.7±1.4, Control group -4.0±1.4, z=3.16, p<0.01) and female SB aperta group versus control female group (Females: SB aperta -4.5±1.4, Control group -4.0±1.4, z=2.05, p<0.05). Conclusion: There is increased recessive homozygosity in tested female SB occulta and female SB aperta individuals versus SB male participants and significantly increased recessive homozygosity in female groups of SB patients versus control female group. These findings could lead to the possible assumption that different genes in different degree might be expressed in SB occulta and SB aperta patients. Hippokratia. 2012; 16 (1): 35-39 [ABSTRACT FROM AUTHOR]

Introduction: Febrile seizures (FS) are the most common neurological disease in childhood. The etiology of FS is the subject of numerous studies including studies regarding genetic predisposition. Aim: The aim of the study was to analyze the association of TRPV1 rs222747 and KCC2 rs2297201 gene polymorphisms with the occurrence of FS. Materials and Methods: The study included 112 patients diagnosed with FS classified as simple febrile seizures (SFS) or complex febrile seizures (CFS). We analyzed selected polymorphisms of KCC2 and TRPV1 genes using the Real-time PCR method. Results: The CT and TT genotypes of the rs2297201 polymorphism of the KCC2 gene are significantly more common in the group of children with FS than the control group ( p  = .002) as well as the allele T of this polymorphism ( p  = .045). Additionally, genotypes CT and TT of the rs2297201 polymorphism of the KCC2 gene were more frequent in the group of children with CFS compared to the control group ( p  < .001). Different genotypes and alleles of the rs222747 TRPV1 gene polymorphism were not associated with the occurrence of febrile seizures or epilepsy, nor were associated with the occurrence of a particular type of febrile seizure ( p  = .252). Conclusion: These results indicate that the CT and TT genotypes, as well as the T allele of rs2297201 polymorphism of the KCC2 gene, could be a predisposing factor for the FS, as well as the occurrence of CFS.

Aims: In this study we analyzed the degree of genetic homozygosity among spina bifida patients with different degrees of neurogenic lesion ( N = 82), as well as their clinical and neurological characteristics, compared to healthy control individuals ( N = 100)., Methods: According to clinical and electromyographic findings, we separately assessed the type of neurogenic lesion (paresis or paralysis). Regarding the degree of neurogenic lesion, patients were classified into three groups: mild, moderate and severe. We analyzed six muscles. For assessing the degree of individual genetic homozygosity, we tested the presence and distribution of 15 homozygous recessive characteristics (HRC)., Results: The predominant type of neurogenic lesion was paresis. Every third evaluated muscle was affected in the group with mild neurogenic lesion, while more than half were affected in the group with severe neurogenic lesion. The average values of HRCs among different groups of patients and the control showed the population-genetic differences that exist among them (control HRC/15 =3.0±0.2; mild HRC/15 =3.6±0.2; moderate HRC/15 =4.8±0.3; severe neurogenic lesion HRC/15 =5.0±0.3)., Conclusions: Spina bifida patients have a significant increase of recessive homozygosity and a decreased variability compared to the control group. As neurogenic lesions are more severe, more affected muscles are present, as well as the increase of individual recessive homozygosity., Competing Interests: The authors have no conflict of interest.

The aim of our study was to evaluate the role of morphogenetic variability in functional outcome of patients with ischemic stroke. The prospective study included 140 patients with acute ischemic stroke, all of whom were tested upon: admission; discharge; one month post-discharge; and three months post-discharge. The age was analyzed, as well. The Functional Independence Measure (FIM) test and the Barthel Index (BI) were used for the evaluation of functional outcomes for the eligible participants. We analyzed the presence of 19 homozygous recessive characteristics (HRC) in the studied individuals. There was a significant change in FIM values at discharge ( p = 0.033) and in BI values upon admission ( p = 0.012) with regards to the presence of different HRCs. Age significantly negatively correlated for the FIM score and BI values at discharge for the group with 5 HRCs ( p < 0.05), while for BI only, negative significant correlation was noticed for the group with 5 HRCs at three months post-discharge ( p < 0.05), and for the group with 3 HRCs at one month post-discharge ( p < 0.05) and three months post-discharge ( p < 0.05). Morphogenetic variability might be one among potentially numerous factors that could have an impact on the response to defined treatment protocols for neurologically-impaired individuals who suffered an ischemic stroke.

Background: The aim of our study was to evaluate the degree of genetic homozygosity in the group of patients with coronary artery disease (CAD), as well as to evaluate morphogenetic variability in CAD patients regarding the presence of investigated risk factors (RF) compared to a control sample of individuals. Additionally, we aimed to evaluate the distribution of ABO blood type frequencies between tested samples of individuals., Methods: This study analyzed individual phenotype and morphogenetic variability of 17 homozygously-recessive characteristics (HRC), by using HRC test in a sample of 148 individuals in CAD patients group and 156 individuals in the control group. The following RF were analyzed: hypertension, diabetes mellitus, hyperlipidemia, and smoking., Results: The mean value of HRC in CAD patients is significantly higher, while variability decreases compared to the control sample (CAD patients: 4.24 ± 1.59, control sample: 3.75 ± 1.69; V CAD-patients = 37.50%, V C = 45.07%). There is a significant difference in individual variations of 17 HRC between control sample and CAD patients ( χ ² = 169.144; p < 0.01), which points out to different variability for tested genes. Mean values of HRC significantly differed in CAD patients in regard to the number of RF present. A blood type (OR = 1.75) is significant predictor for CAD, while O blood type (OR = 0.43) was significantly associated with controls., Conclusion: There is a higher degree of recessive homozygosity in CAD patients versus individuals in the control sample, and the presence of significant variations in the degree of recessive homozygosity as the number of tested RF increases.

Febrile seizures (FS) are the most common neurological disorder in childhood and are a great stress for parents due to their dramatic clinical appearance. Using test for determination of homozygously recessive characteristics in humans (HRC test) we analyzed presence, distribution, and individual combination of 20 selected genetically controlled morphophysiological traits among FS patients (N=121) and control (N=121) to determine a possible deviation in the homozygosity level and genetic loads in the group of affected children and whether there is a predisposition to the occurrence of FS. The results of our study show a statistically significant difference in the mean values of the HRC tested ( x ¯ H R C / 20 CN = 3.2 ± 0.2; x ¯ H R C / 20 FS = 4.6 ± 0.2, t= 5.74 , p< 0.0001), as well as in the distribution and variability of two studied samples (V C =55,3%, V FS = 39,6%), which indicates a complex polygenic difference among the tested groups of subjects. The differences in the degree of genetic homozygosity and variability are also present between the genders (t Cf/FSf = 4.12; t Cm/FSm = 3.98; p <0.0001) (V Cf =56.9%, V FSf = 39.3%; V Cm =54.1%, V FSm =40.1%). Obtained results indicate the enlargement of recessively homozygous genetic loads in the group of children with FS which may represent some kind of predisposition for expressivity of this type of seizures.

In this study, we evaluated and compared the morphogenetic variability and the degree of recessive homozygosity in patients with manifested ischemic stroke compared to healthy controls. We have evaluated 120 patients with manifested ischemic stroke, of which 64 did not have hypertension and 56 have hypertension. For comparison, we additionally tested 194 healthy individuals without manifested ischemic stroke (controls). For the estimation of the degree of recessive homozygosity, we have performed the homozygously recessive characteristics (HRC) test and tested 19 HRCs. There was a significant difference in the individual variations of 19 HRCs between the controls and patients with manifested ischemic stroke (&sum;&chi;² = 60.162, p < 0.01). The mean values of the tested HRCs significantly differed between the controls and group with manifested ischemic stroke (Controls &minus; 5.71 ± 1.61, Ischemic stroke group &minus; 6.25 ± 1.54, p = 0.012). For the tested individuals with hypertension, the mean values of HRCs did not significantly differ between the controls and those that had manifested ischemic stroke (Controls &minus; 5.28 ± 1.75, Ischemic stroke group &minus; 5.64 ± 1.48, p = 0.435). We found a significant difference in the frequencies of HRCs between those with and without hypertension for controls ( p < 0.003) and for those with manifested ischemic stroke ( p < 0.001). There are increased degrees of recessive homozygosity along with decreased variability in patients with manifested ischemic stroke compared to controls.

We analyzed morphogenetic variability and degree of genetic homozygosity in male and female individuals with coronary artery disease (CAD) versus unaffected controls. We have tested 235 CAD patients; 109 were diagnosed also with diabetes mellitus (DM) and 126 with hypertension (HTN). We additionally evaluated 152 healthy individuals without manifested CAD. For the evaluation of the degree of recessive homozygosity, we have performed the homozygously recessive characteristics (HRC) test and tested 19 HRCs. In controls, the frequency of HRC for males was 2.88 ± 1.89, while for females, it was 3.65 ± 1.60. In the CAD group, the frequency of HRC for males was 4.21 ± 1.47, while for females, it was 4.73 ± 1.60. There is significant difference in HRC frequencies between controls and CAD separately for males ( p < 0.001) and females ( p < 0.001). The same applies between controls and CAD with DM (males: p < 0.001 and females: p = 0.004), and controls and CAD with HTN (males: p < 0.001 and females: p < 0.001). There is no significant difference in HRC frequencies between the group of CAD with DM and the group of CAD with HTN (males: p = 0.952 and females: p = 0.529). Our findings point to the increased degree of recessive homozygosity and decreased variability in both genders of CAD patients versus controls, indicating the potential genetic predisposition for CAD.

Introduction: Obesity is a complex condition with multifactorial origin. Assuming that such a state is genetically controlled, the aim of our study was to evaluate the degree of genetic homozygosity among overweight and obese individuals by the homozygously recessive characteristics (HRC) test., Material and Methods: We analysed the presence, distribution and individual combination of 15 selected genetically controlled recessive phenotype traits in a sample of 140 individuals with increased body mass index (overweight individuals n = 100 and obese individuals n = 40) and a control group of normal weight individuals (n = 300)., Results: OBESE INDIVIDUALS HAVE SIGNIFICANTLY HIGHER MEAN VALUES FOR GENETIC HOMOZYGOSITY THAN THOSE WITH NORMAL WEIGHT (NORMAL WEIGHT: 3.61 ±1.48; obese: 4.13 ±1.47, p < 0.05) and difference in the presence of certain individual combinations of evaluated phenotype traits (Σχ(2) = 76.9; p < 0.01). There was no difference in average homozygosity of such genetic markers between groups of normal weight and overweight individuals (normal weight: 3.61 ±1.48; overweight: 3.93 ±1.51, p > 0.05) and between groups of overweight and obese individuals (overweight: 3.93 ±1.51; obese: 4.13 ±1.47, p > 0.05). There is no difference in the presence of certain individual combinations of evaluated phenotype traits between overweight and obese individuals (Σχ(2) = 20.6; p > 0.05)., Conclusions: There is a populational genetic difference in the degree of genetic homozygosity and variability between the group of normal weight and group of obese individuals, indicating a possible genetic component. Overweight and obese individuals have a genetic predisposition, but different expression of genetic loads could be one of the possible explanations for different susceptibility to increase of fat mass and body mass index.

The present study examined regional distribution of opiate alkaloids from seized heroin in brain regions of experimental animals in order to select parts with the highest content of opiates. Their analysis should contribute to resolve causes of death due to heroin intake. The tests were performed at different time periods (5, 15, 45 and 120 min) after male and female Wistar rats were treated with seized heroin. Opiate alkaloids (codeine, morphine, acetylcodeine, 6-acetylmorphine and 3,6-diacetylmorphine) were quantitatively determined in brain regions known for their high concentration of µ-opiate receptors: cortex, brainstem, amygdala and basal ganglia, by using gas chromatography-mass spectrometry (GC-MS). The highest content of opiate alkaloids in the brain tissue of female animals was found 15 min and in male animals 45 min after treatment. The highest content of opiates was determined in the basal ganglia of the animals of both genders, indicating that this part of brain tissue presents a reliable sample for identifying and assessing contents of opiates after heroin intake.

Introduction: Patients with spina bifida in the lumbosacral region usually have various degrees of motor and sensory dysfunctions of the lower extremities and anal sphincter. The aim of our study was to evaluate the distribution and differences in frequencies of affected muscles, number of affected muscles and degree of neurogenic lesion between patients with spina bifida occulta (SBO) and spina bifida aperta (SBA)., Material and Methods: In 100 patients with SB, 6 muscles in the lower limbs were separately analysed. Due to the number of affected muscles, we evaluated 5 groups of patients: with 1 affected muscle, 2 affected muscles, 3 affected muscles, 4 affected muscles and 5 affected muscles. Three degrees of neurogenic lesions were assessed: mild, moderate and severe., Results: The tibialis anterior muscle was most frequently affected in SB patients. The outer anal sphincter was frequently affected in the group of SBA patients. Single muscle affection is frequent in the group of patients with SBO, while in the group of patients with SBA, 4 muscles were significantly frequently affected. The great majority of patients (45.46%) with affected outer anal sphincter (OAS) in the group of SBO were without affection of other muscles, while for the SBA group it was for every third patient. Mild neurogenic lesion was significantly frequent in SBO patients, while severe form was significantly frequent in SBA patients., Conclusions: Patients with SBO usually present with mild to moderate clinical presentation, while multiple root involvement and severe degree of neurogenic lesion is associated more frequently with SBA.

This study tries to establish correlations between the types of handedness and several morpho-physiological characteristics, controlled by one or a small number of genes with alternative dominant recessive manifestation. The population-genetic homozygosity degree study includes the analysis of the presence, distribution and individual traits combination in left-handed and right-handed persons. It was conducted at three localities in two states, Serbia (SRB) and Montenegro (MNE). Our hypothesis is that a possible genetic load due to increased recessive homozygosity, being a potential population-genetic parameter of left-handedness manifestation, may cause some change in other morpho-physiological characters. The average proportion of 23 studied homozygously-recessive characters (HRC's) was similar among observed left-handed individuals in the studied localities. It varied from 10.5 +/- 0.4 in Serbia to 10.7 +/- 0.3 in MNE. The differences were somewhat bigger among right-handed persons, varying from 8.7 +/- 0.3 in MNE to 9.1 +/- 0.3 HRC's in Serbia. However, in all localities the average homozygosity was significantly higher among left-handed school children. The number of HRC's among 400 individuals varied from 2 to 16 among right-handed and from 4 to 19 among left-handed persons. There were no differences in scholar scores between left-handed and right-handed children, although small differences were found between two state samples.

Introduction: Assuming that spina bifida (SB) is a genetically controlled disease, the aim of our study was to evaluate the degree of genetic homozygosity and the distribution of AB0 blood types among patients with SB occulta and SB aperta by the homozygously recessive characteristics (HRC) test., Material and Methods: Our study included an analysis of the presence, distribution and individual combination of 15 selected genetically controlled morpho-physiological traits in a sample of 100 patients with SB (SB occulta N = 50 and SB aperta N = 50) and a control group of individuals (N = 100)., Results: We found a statistically significant difference between the mean values for genetic homozygosity (SB 4.5 ±0.3; control 3.0 ±0.2, p < 0.001) and also differences in the presence of certain individual combinations of such traits. In 12 (80.0%) of the 15 observed characteristics, recessive homozygosity was expressed to a greater degree among the group of SB patients, while for 9 (60.0%) of the traits this level of difference was statistically significant (Σ(χ) (2) = 266.3, p < 0.001). There was no difference in average homozygosity of such genetic markers between groups of SB occulta and SB aperta patients, but the type of individual variation in the two studied groups significantly differed. In the group of patients with SB the frequency of 0 blood group was significantly increased while B blood group was significantly decreased., Conclusions: Our results clearly show that there is a populational genetic difference in the degree of genetic homozygosity and variability between the group of patients with SB and individuals without clinical manifestations, indicating a possible genetic component in the aetiopathogenesis of spina bifida.

In this population-genetic study, we compared morphological and genetic variability of a control group of individuals with that of developing and elite water polo players from Serbia, using a test of determination of homozygously recessive characteristics in humans (HRC-test). Comparisons of the frequencies of ABO and Rh blood types were also made for the groups examined. The degree of genetic homozygosity showed not only statistically significant differences in the mean values obtained for the studied samples (control group 5.1 +/- 0.2; emerging water polo players 3.5 +/- 0.1; elite water polo players 1.9 +/- 0.3 HRCs, out of 20 analysed characteristics), but also differences in the type of distribution, as well as the presence of specific combinations of such traits. During identification of swimming talents, the degree of genetic homozygosity showed a significant decrease, from 4.8 +/- 0.3 in the group of pre-competitive young boys, to 2.7 +/- 0.3 in selected adult team members, to only 1.9 +/- 0.3 in elite water polo players. In the group of pre-competitive young individuals, all characteristics tested also had homo-recessive combinations, while in the group of elite water polo players only 8 of 20 traits were expressed as homozygously recessive. In the group of elite water polo players, who were World and European champions as well as Olympic champions, the frequencies of the A and B blood types were low, AB was absent, and the frequency of the O blood type was high at 72.2% (i.e., almost twice the expected percentage).

The study of Balkan Endemic Nephropathy (BEN) in the affected localities of southern Serbia shows population-genetic difference between samples of BEN affected individuals and control group consisting of non-affected individuals from the same localities. Detailed population-genetic study in village Chepure, which includes 20 large families where BEN is present in 646 (from first to fourth degree) relatives of probants, shows familial character of disease as well as significant genetic influences in expression of the illness. Our study of genetic homozygosity degree includes an analysis of the presence, distribution and individual combination of 20 to 30 selected genetically controlled morpho-physiological traits in the sample of BEN patients and in the control-healthy group. Assuming that BEN is genetically controlled disease, we made a hypothesis that an increased homozygosity level, as well as the changed variability among the patients, could be population-genetic parameter for the prediction of the illness. Taking into consideration our experience, as well as the experience of numerous scientists who studied the nature of the inheritance of mono- and oligo-genically controlled qualitative traits, we applied a methodology to estimate the proportion of such homozygously recessive characters (HRC-test). This population-genetic study did not only show statistically significant difference of the mean values of genetic homozygosity (BEN - 8.7 +/- 0.3; control - 7.6 +/- 0.3), but of the differences in the type of distribution too, as well as the differences in the presence of certain individual combinations of such traits.

Myelodysplastic syndromes (MDS) are rare disorders in children. Molecular mechanisms underlying MDS in children are not yet completely understood. Considering the role of FMS and TP53 gene mutations in adult MDS patients, we analyzed mutations of these genes in a cohort of 35 children with MDS. Single-strand conformation polymorphism polymerase chain reaction analysis performed on FMS codon 969 and TP53 exons 5-9 showed no mutations in the analyzed sequences. Our results suggest that molecular mechanisms of MDS evolution in children are different from those in adults.

Our study of genetic homozygosity degree includes an analysis of the presence, distribution and individual combination of 20 selected genetically controlled morpho-physiological traits in the group of patients (N = 93) with congenital hip dislocation (CDH) and in control sample consisting of school children from Belgrade (N = 200). Assuming that CDH is genetically controlled disease, we made a hypothesis that an increased homozygosity level, as well as the changed variability among the patients, could be population-genetic parameter for the prediction of the illness. Taking into consideration our experience, as well as the experience of numerous scientists who studied the nature of the inheritance of mono- and oligo-genically controlled qualitative traits, we applied a methodology to estimate the proportion of such homozygously recessive characters (HRC-TEST). This population-genetic study did not only show statistically significant difference of the middle values of genetic homozygosity (CDH-7.1+/-0.2; control - 5.2+/-0.1), but of the differences in the type of distribution too, as well as the differences in the presence of certain individual combinations of such traits. The described methodology can be used in further analyses, with hope that it can be applied as an early prognosis for decreased resistance to different diseases. The frequencies of ABO blood types in the sample of CDH patients were similar to the average value of Serbian population, while the percentage of blood group A is slightly increased. Comparing frequencies of Rh blood groups, there is no difference between tested samples.