Abstract Introduction The aim of the study was to analyse the deviations of the body posture and to assess the occurrence of spine deformities. Additionally, Body Mass Index in school children was related to the trend in postural deformities for different age groups (5-8 years old, n=112; 9-11 years old, n=205; 12-14 years old, n=212) as part of the project “Spine Lab”, granted from the European Commission IPA founds, investigating the importance of public health issues. Methods Body posture was measured using Contemplas 3D software analyser, based on video image trajectory and BIA weight scale (Tanita BC 420). Overall, 17 variables were assessed, and differences were confirmed using MANOVA analysis. Results The results showed that there is a significant difference between age groups for the measured variables (F=9.27; p<0.01; η2=0.26), suggesting a moderate difference across the age span. Conclusion The study results showed that there is a negative trend of increasing Body Mass Index within the first and youngest age group. The fact is that the trend of increasing deformity of the shoulder belt has been noted, often inclining towards the formation of milder forms of kyphotic posture. Other forms of deformity that are accentuated in the survey results are the negative trend of increasing pelvic rotation and pelvis rotation which inclines towards the formation of lordotic posture for all three age groups.

Abstract Background This article summarizes the European Renal Association – European Dialysis and Transplant Association (ERA-EDTA) Registry’s 2015 Annual Report. It describes the epidemiology of renal replacement therapy (RRT) for end-stage renal disease (ESRD) in 2015 within 36 countries. Methods In 2016 and 2017, the ERA-EDTA Registry received data on patients who were undergoing RRT for ESRD in 2015, from 52 national or regional renal registries. Thirty-two registries provided individual patient-level data and 20 provided aggregated-level data. The incidence, prevalence and survival probabilities of these patients were determined. Results In 2015, 81 373 individuals commenced RRT for ESRD, equating to an overall unadjusted incidence rate of 119 per million population (pmp). The incidence ranged by 10-fold, from 24 pmp in Ukraine to 232 pmp in the Czech Republic. Of the patients commencing RRT, almost two-thirds were men, over half were aged ≥65 years and a quarter had diabetes mellitus as their primary renal diagnosis. Treatment modality at the start of RRT was haemodialysis for 85% of the patients, peritoneal dialysis for 11% and a kidney transplant for 4%. By Day 91 of commencing RRT, 82% of patients were receiving haemodialysis, 13% peritoneal dialysis and 5% had a kidney transplant. On 31 December 2015, 546 783 individuals were receiving RRT for ESRD, corresponding to an unadjusted prevalence of 801 pmp. This ranged throughout Europe by more than 10-fold, from 178 pmp in Ukraine to 1824 pmp in Portugal. In 2015, 21 056 kidney transplantations were performed, equating to an overall unadjusted transplant rate of 31 pmp. This varied from 2 pmp in Ukraine to 94 pmp in the Spanish region of Cantabria. For patients commencing RRT during 2006–10, the 5-year unadjusted patient survival probabilities on all RRT modalities combined was 50.0% (95% confidence interval 49.9–50.1).

Hereditary hearing loss (HL) is a common sensory disorder, with an incidence of 1–2 per 1000 newborns, and has a genetic etiology in over 50% of cases. It occurs either as part of a syndrome or in isolation and is genetically very heterogeneous which poses a challenge for clinical and molecular diagnosis. We used exome sequencing to seek a genetic cause in a group of 56 subjects (49 probands) with HL: 32 with non-syndromic non-GJB2 HL and 17 with syndromic HL. Following clinical examination and clinical exome sequencing, an etiological diagnosis was established in 15 probands (15/49; 30%); eight (8/17;47%) from the syndromic group and seven (7/32; 21%) from the non-syndromic non-GJB2 subgroup. Fourteen different (half of them novel) non-GJB2 variants causing HL were found in 10 genes (CHD7, HDAC8, MITF, NEFL, OTOF, SF3B4, SLC26A4, TECTA, TMPRSS3, USH2A) among 13 probands, confirming the genetic heterogeneity of hereditary HL. Different genetic causes for HL were found in a single family while three probands with apparent syndromic HL were found to have HL as a separate clinical feature, distinct from the complex phenotype. Clinical exome sequencing proved to be an effective tool used to comprehensively address the genetic heterogeneity of HL, to detect clinically unrecognized HL syndromes, and to decipher complex phenotypes in which HL is a separate feature and not part of a syndrome.

Ten biologically active 2,2,5,5-tetramethyl-9-aryl-3,4,5,6,7,9-hexahydro-1H-xanthene-1,8(2H)-dione derivatives were synthesized and their structures were confirmed by IR, 1H and 13C NMR spectroscopy and mass spectrometry. Synthesized compounds were scanned for their antioxidant, antimicrobial and antiproliferative activity. Antibacterial activity was tested by the diffusion and dilution method against Bacillus subtilis, Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa, while antifungal activity was tested against Candida albicans and Saccharomyces cerevisiae. Antiproliferative activity was tested against HeLa (cervical carcinoma), SW620 (colorectal adenocarcinoma, metastatic), hepatocellular carcinoma (HEpG2), lung carcinoma cells (A549) and mouse embryo fibroblast cell line (3T3). The best antioxidant activity showed compound 2 with two hydroxy groups substituted on phenyl ring in positions 2' and 3'. The best antimicrobial activity of all synthesized compounds showed compound 8, while the best antiproliferative activity showed compound 6. Results signify the importance of xanthene-1,8-dione derivatives as potential antioxidant and antiproliferative agents.

BackgroundChildren’s exposure to violence is a major public health issue. The Balkan epidemiological study on Child Abuse and Neglect project aimed to collect internationally comparable data on violence exposures in childhood.MethodsA three stage stratified random sample of 42,194 school-attending children (response rate: 66.7%) in three grades (aged 11, 13 and 16 years) was drawn from schools in Albania, Bosnia and Herzegovina, Bulgaria, Croatia, Former Yugoslavian Republic of Macedonia (FYROM), Greece, Romania, Serbia and Turkey. Children completed the ICAST-C questionnaire, which measures children’s exposure to violence by any perpetrator.ResultsExposure rates for psychological violence were between 64.6% (FYROM) and 83.2% (Greece) for lifetime and 59.62% (Serbia) and 70.0% (Greece) for past-year prevalence. Physical violence exposure varied between 50.6% (FYROM) and 76.3% (Greece) for lifetime and 42.5% (FYROM) and 51.0% (Bosnia) for past-year prevalence. Sexual violence figures were highest for lifetime prevalence in Bosnia (18.6%) and lowest in FYROM (7.6%). Lifetime contact sexual violence was highest in Bosnia (9.8%) and lowest in Romania (3.6%). Past-year sexual violence and contact sexual violence prevalence was lowest in Romania (5.0 and 2.1%) and highest in Bosnia (13.6 and 7.7% respectively). Self-reported neglect was highest for both past-year and lifetime prevalence in Bosnia (48.0 and 20.3%) and lowest in Romania (22.6 and 16.7%). Experiences of positive parental practices were reported by most participating children in all countries.ConclusionsWhere significant differences in violence exposure by sex were observed, males reported higher exposure to past-year and lifetime sexual violence and females higher exposure to neglect. Children in Balkan countries experience a high burden of violence victimization and national-level programming and child protection policy making is urgently needed to address this.

Abstract There are many determinants of vancomycin clearance, but these have not been analyzed separately in populations with different levels of renal function, which could be why some important factors have been missed. The aim of our study was to compare the pharmacokinetic parameters and factors that may affect vancomycin pharmacokinetics in groups of patients with normal renal function and in those with chronic kidney failure. The study used a population pharmacokinetic modeling approach, based on plasma vancomycin concentrations and other data from 78 patients with chronic kidney failure and 32 patients with normal renal function. The model was developed using NONMEM software and validated by bootstrapping. The final model for patients with impaired kidney function was described by the following equation: CL (L/h) = 0.284 + 0.000596 x DD + 0.00194 x AST, and that for the patients with normal kidney function by: CL (L/h) = 0.0727 + 0.205 x FIB. If our results are confirmed by new studies on two similar populations, these factors could be considered when dosing vancomycin in patients with chronically damaged kidneys, as well as in patients with normal kidneys who frequently require high doses of vancomycin.

The aim of this research is to automate an analysis of the EGFR gene as a whole, and especially an analysis of those exons with clinically identified microdeletion mutations which are recorded with non-mutated nucleotides in a long chains of a, c, t, g nucleotides, and “-” (microdeletion) in the NCBI database or other sites. In addition, the developed system can analyze data resulting from EGFR gene DNA sequencing or DNA extraction for a new patient and identify regions potential microdeletion mutations that clinicians need to develop new treatments. Classifiers, trained using limited set of known mutated samples, are not capable of exact identification of mutations and their distribution within the sample, especially for previously unknown mutations. Consequently, results obtained by classification, are not reliable to select therapy in personalized medicine. Personalized medicine demands exact therapy, which can be designated only if all combinations of EGFR gene exon mutations are known. We propose computing system/model based on two modules: The first module includes training of knowledge based radial basis (RADBAS) neural network using training set generated with combinatorial microdeletion mutations generator. The second module has two modes of operation: the first mode is offline simulation including testing of the RADBAS neural network with randomly generated microdeletion mutations on exons 18th, 19th, and 20th; and the second mode is intended for application in real time using sample patients’ data with microdeletion mutations extracted online from EGFR mutation database. Both modes include preprocessing of data (extraction, encoding, and masking), identification of distributed mutations (RBNN encoding, counting of exon mutations distribution and counting of EGFR gene mutation distribution), and standard reporting. The system has been implemented in MATLAB/SIMULINK environment.

Abstract Epigenetic variation in natural populations with contrasting habitats might be an important element, in addition to the genetic variation, in plant adaptation to environmental stress. Here, we assessed genetic, epigenetic, and cytogenetic structure of the three Lilium bosniacum populations growing on distinct habitats. One population was growing under habitual ecological conditions for this species and the other two were growing under stress associated with high altitude and serpentine soil. Amplified fragment length polymorphism and methylation-sensitive amplification polymorphism analyses revealed that the three populations did not differentiate genetically, but were clearly separated in three distinct clusters according to DNA methylation profiles. Principal coordinate analysis showed that overall epigenetic variation was closely related to habitat conditions. A new methylation-sensitive amplification polymorphism scoring approach allowed identification of mainly unmethylated (φST = 0.190) and fully CpG methylated (φST = 0.118) subepiloci playing a role in overall population differentiation, in comparison with hemimethylated sites (φST = 0.073). In addition, unusual rDNA repatterning and the presence of B chromosomes bearing 5S rDNA loci were recorded in the population growing on serpentine soil, suggesting dynamic chromosome rearrangements probably linked to global genome demethylation, which might have reactivated some mobile elements. We discuss our results considering our earlier data on morphology and leaf anatomy of several L. bosniacum populations, and suggest a possible role of epigenetics as a key element in population differentiation associated with environmental stress in these particular lily populations.