Igor Veselinović

Bradykinin type 2 receptor -9/-9 genotype is associated with triceps brachii muscle hypertrophy following strength training in young healthy men

BackgroundBradykinin type 2 receptor (B2BRK) genotype was reported to be associated with changes in the left-ventricular mass as a response to aerobic training, as well as in the regulation of the skeletal muscle performance in both athletes and non-athletes. However, there are no reports on the effect of B2BRK 9-bp polymorphism on the response of the skeletal muscle to strength training, and our aim was to determine the relationship between the B2BRK SNP and triceps brachii functional and morphological adaptation to programmed physical activity in young adults.MethodsIn this 6-week pretest-posttest exercise intervention study, twenty nine healthy young men (21.5 ± 2.7 y, BMI 24.2 ± 3.5 kg/m2) were put on a 6-week exercise protocol using an isoacceleration dynamometer (5 times a week, 5 daily sets with 10 maximal elbow extensions, 1 minute rest between sets). Triceps brachii muscle volumes were assessed by using magnetic resonance imaging before and after the strength training. Bradykinin type 2 receptor 9 base pair polymorphism was determined for all participants.ResultsFollowing the elbow extensors training, an average increase in the volume of both triceps brachii was 5.4 ± 3.4% (from 929.5 ± 146.8 cm3 pre-training to 977.6 ± 140.9 cm3 after training, p<0.001). Triceps brachii volume increase was significantly larger in individuals homozygous for −9 allele compared to individuals with one or two +9 alleles (−9/-9, 8.5 ± 3.8%; vs. -9/+9 and +9/+9 combined, 4.7 ± 4.5%, p < 0.05). Mean increases in endurance strength in response to training were 48.4 ± 20.2%, but the increases were not dependent on B2BRK genotype (−9/-9, 50.2 ± 19.2%; vs. -9/+9 and +9/+9 combined, 46.8 ± 20.7%, p > 0.05).ConclusionsWe found that muscle morphological response to targeted training – hypertrophy – is related to polymorphisms of B2BRK. However, no significant influence of different B2BRK genotypes on functional muscle properties after strength training in young healthy non athletes was found. This finding could be relevant, not only in predicting individual muscle adaptation capacity to training or sarcopenia related to aging and inactivity, but also in determining new therapeutic strategies targeting genetic control of muscle function, especially for neuromuscular disorders that are characterized by progressive adverse changes in muscle quality, mass, strength and force production (e.g., muscular dystrophy, multiple sclerosis, Parkinson’s disease).

Genetic variation at 15 autosomal STR loci in the Hungarian population of Vojvodina Province, Republic of Serbia.

Vojvodina is a multi-ethnic province of Serbia with a population of approximately 2,000,000, including nearly 30 ethnic groups and six official languages. The Hungarian ethnic group falls under the major minority groups with a population of approximately 290,000. This study included 291 unrelated adult individuals of Hungarian origin living in Vojvodina, after obtaining their informed consent. DNA from blood samples and buccal swabs was isolated by the Chelex method [1]. The extracted DNA was quantified using the Biophotometer Plus (Eppendorf AG). PCR amplification of approximately 1 ng of target DNA for each sample was carried out on the GeneAmp PCR System 2700 (Applied Biosystems, USA) using the AmpFlSTR Identifiler PCR amplification kit (Applied Biosystems, USA), according to the manufacturer’s instructions. The amplified products were separated by capillary electrophoresis using ABI PRISM 310 Genetic Analyzer (Applied Biosystems, USA). Data

Genetic polymorphism of 17 Y chromosomal STRs in the Rusyn population sample from Vojvodina Province, Serbia

Seventeen short tandem repeats on the Y chromosome were analyzed in the sample of 200 males of Rusyn origin from the Vojvodina Province, Serbia. We observed 180 different haplotypes; 163 of which were unique and 17 occurred between two and four times. The haplotype diversity was 0.9988, and the discrimination capacity was 0.9. Data are available in the Y chromosome haplotype reference database under accession number YA003631. The obtained results were compared to haplotypes from geographically and linguistically close populations.

Death due to an unrecognized ascariasis infestation: two medicolegal autopsy cases.

Two unusual autopsy cases of fatal Ascaris infection have been presented. The first case presents lethal diffuse peritonitis due to duodenal rupture caused by the presence of parasitic Ascaris worm in gastrointestinal tract of 2.5-year-old child. The second one is a case of subacute asphyxia caused by obturation of upper respiratory tract by a large number of adult Ascaris roundworms. General economic crisis and inefficient medical service make possible spreading of almost eradicated disease, thus the possibility of the most serious complications of this helminthiasis must not be forgotten.

An Unusual Suicide Case by Combination of Choking and Hanging

A 40-year-old man was found dead in his prison cell, hanging on a twisted bandage tightened around his neck. His permanent metal tracheostomy tube was completely corked with a piece of paper wrapped with transparent cellophane from a cigarette case. After police investigation and complete autopsy, suicide was determined as the manner of death. Although suicides by 1 form of asphyxia are relatively common, combination of several different forms of asphyxia is far less frequent. We present this unusual and very rare case of suicide by combination of 2 forms of asphyxia, that is, choking and hanging, along with autopsy findings and discussion.

Relation of functional characteristics and serum alpha-1-antitrypsin (AAT) concentration in patients with PiMM phenotype and chronic obstructive pulmonary disease (COPD)

INTRODUCTION The relation of AAT phenotype and COPD still raises lots of controversy. In this study we aimed to investigate relation lung function characteristics, AAT serum level and COPD in smoking and non smoking population. PATIENTS AND METHODS This was a prospective non-randomized study in which we evaluated 45 patients with severe (stage IV) COPD. In all patients we determined AAT phenotype, serum AAT levels and lung function tests. We correlated findings in relation to the smoking status. RESULTS All patients were MM type homozygotes. Serum AAT concentrations were within the reference values, amounting to 1.66g/l in smokers and 1.80g/l in nonsmokers. There was no significant correlation between serum AAT concentrations and lung function parameters. We have observed the higher mean values of ITGV, RV, TLC and RV/TLC in smokers and a statistically significant difference only in ITGV. CONCLUSION All of the investigated patients with severe COPD were MM type homozygotes with normal plasma level of AAT. There was no significant correlation between the phenotype and severity of COPD. We did not find significant relation of plasma AAT level and lung function impairment.

Northern Slavs from Serbia do not show a founder effect at autosomal and Y-chromosomal STRs and retain their paternal genetic heritage.

Studies on Y-chromosomal markers revealed significant genetic differentiation between Southern and Northern (Western and Eastern) Slavic populations. The northern Serbian region of Vojvodina is inhabited by Southern Slavic Serbian majority and, inter alia, Western Slavic (Slovak) and Eastern Slavic (Ruthenian) minorities. In the study, 15 autosomal STR markers were analysed in unrelated Slovaks, Ruthenians and Serbs from northern Serbia and western Slovakia. Additionally, Slovak males from Serbia were genotyped for 17 Y-chromosomal STR loci. The results were compared to data available for other Slavic populations. Genetic distances for autosomal markers revealed homogeneity between Serbs from northern Serbia and Slovaks from western Slovakia and distinctiveness of Serbian Slovaks and Ruthenians. Y-STR variation showed a clear genetic departure of the Slovaks and Ruthenians inhabiting Vojvodina from their Serbian neighbours and genetic similarity to the Northern Slavic populations of Slovakia and Ukraine. Admixture estimates revealed negligible Serbian paternal ancestry in both Northern Slavic minorities of Vojvodina, providing evidence for their genetic isolation from the Serbian majority population. No reduction of genetic diversity at autosomal and Y-chromosomal markers was found, excluding genetic drift as a reason for differences observed at autosomal STRs. Analysis of molecular variance detected significant population stratification of autosomal and Y-chromosomal microsatellites in the three Slavic populations of northern Serbia, indicating necessity for separate databases used for estimations of frequencies of autosomal and Y-chromosomal STR profiles in forensic casework. Our results demonstrate that regarding Y-STR haplotypes, Serbian Slovaks and Ruthenians fit in the Eastern European metapopulation defined in the Y chromosome haplotype reference database.

Genetic analysis of 12 X-STR loci in the Serbian population from Vojvodina Province

The analysis of 12 X-STR loci included in the Investigator® Argus X-12 kit was performed on a sample of 325 unrelated persons from Vojvodina Province, Republic of Serbia. No significant differences were observed in the allele frequencies in males and females. Heterozygosity values among the studied loci ranged from 67.62 to 94.28%. All loci in female individuals were consistent with the Hardy-Weinberg equilibrium test. The combined power of discrimination values in male and female individuals was 0.9999999994 and 0.999999999999999, respectively. The combined mean exclusion chance was 0.999998 in deficiency cases, 0.9999999977 in normal trio cases, and 0.9999994 in duo cases. Loci DXS10135 and DXS10101 were found to be most polymorphic. The haplotype diversity was found to be greater than 0.993 for all linkage groups. The exact test for pairwise linkage disequilibrium for the 12 loci in the male samples showed significant linkage disequilibrium for the DXS10103-DXS10101 and DXS10134-DXS10146 pairs of loci. The results from the current study confirmed that the panel of 12 X-STR loci is highly polymorphic and informative and can be implemented as a powerful tool in deficient paternity testing and kinship analysis, as well as a useful complement tool of autosomal short tandem repeats (STRs) in forensic investigation. Population differentiation analyses indicated significant differences in genetic structure between the Serbian population and the geographically and ethno-linguistically distant populations, while genetic homogeneity was present in populations with similar geographic origin.

FV Leiden Mutation and Deep Venous Thrombosis in Vojvodina: A Case-Control Study

FV Leiden Mutation and Deep Venous Thrombosis in Vojvodina: A Case-Control Study Between September 2007 and February 2010, the occurrence of symptomatic deep venous thrombosis (DVT) was investigated in a cohort of 79 consecutive patients. A case-control study inclu ded 71 healthy controls matched with cases for sex and age. The prevalence of factor V G1691A mutation genotype was analyzed. Eighteen cases (22.79%; 95% confidence interval (CI) 13.53% to 32.03%) and four controls (5.63%; 95% CI 0.27% to 10.99%) were heterozygous carriers of FV Leiden (p= 0.025). The odds ratio for DVT was 4.94 (95% CI 1.58 to 15.42) and the relative risk 4.04 (95% CI 1.44-11.38) compared with FV 1691G carriers. Four cases were homozygous carriers of FV Leiden, giving a prevalence of 5.06% (95% CI 0.23 to 9.89%) and no controls, therefore OR and RR calculation was based on the prevalence of homozygotes in the general Caucasian population. The OR for DVT was 47.28 (95% CI 0.04 - 52167.3) and the RR 45.57 (95% CI 0.04 to 49540.77; p=0.025) compared with FV 1691 G carriers. Our study confirms that factor V Leiden carriers in Vojvodina, as in similar studies previously carried out in other populations, have an increased risk of developing DVT. The evaluated risk of DVT in heterozygous carriers of the mutation is four- to five-fold higher, whereas for homozygous carriers it is 45- to 48-fold higher than in non-carriers. These results confirm that patients with DVT and their relatives should undergo screening for FV Leiden mutation. FV Leiden Mutacija i Tromboza Dubokih Vena u Vojvodini: Studija Asocijacije U periodu od septembra 2007 do februara 2010. ispitana je pojava duboke venske tromboze u kohorti od 79 pacijenata. Prospektivna studija je obuhvatila kontrolnu grupu koja se po odnosu polova i starosti poklapa sa grupom pacijenata. Analizirano je prisustvo mutacije faktor V G1691A u grupi obolelih i kontrolnoj grupi. Osamnaest obolelih (22,79%; 95% interval poverenja (CI) 13,53% do 32,03%) i četiri kontrole (5,63%; 95% CI 0,27-10,99%) bili su nosioci FV Leiden mutacije u heterozigotnom stanju (p = 0,025). Odnos verovatnoća (OR) za nastanak DVT iznosio je 4,94 (95% CI 1,58-15,42) a relativni rizik (RR) 4,04 (95% CI 1,44-11,38) u poređenju sa nosiocima neizmenjenog gena. Četiri obolela bili su nosioci FV Leiden mutacije u heterozigotnom stanju a nijedna zdrava osoba i stoga su OR i RR računati na osnovu opšte učestalosti homozigota u beloj populaciji. OR za DVT bio je 47,28 (95% CI 0,04-52167,3) a RR 45,57 (95% CI 0,04-49540,77; p=0,025) Naša studija potvrđuje da nosioci FV Leiden mutacije u Vojvodini, kao u studijama rađenim na drugim populacijama, imaju povećan rizik za nastanak DVT. Procenjen rizik od nastanka DVT za nosioce faktor V Leiden mutacije u heterozigotnom stanju je četiri do pet puta veći a za homozigotne nosioce čak oko 45 do 48 puta veći u odnosu na nosioce neizmenjenog gena za FV. Ovi rezultati potvrđuju da kod pacijenata sa DVT, kao i njihovih rođaka, treba ispitati prisustvo FV Leiden mutacije.