Y chromosome haplogroups in the Bosnian-Herzegovinian population based on 23 Y-STR loci

In a study of the Bosnian-Herzegovinian (B&H) population, Y chromosome marker frequencies for 100 individuals, generated using PowerPlex® Y23 kit, were used to perform Y chromosome haplogroup assignment via Whit Athey’s Haplogroup Predictor. This Whit Athey’s algorithm determines Y chromosome haplogroups from Y chromosome short tandem repeat (Y-STR) data using Bayesian probability-based approach. According to the results of the present study, the most frequent haplogroup appears to be I2a, with a prevalence of 49%, followed by R1a and E1b1b, each accounting for 17% of all haplogroups within the population. Remaining haplogroups encountered in this study are J2a (5%), I1 (4%), R1b (4%), J2b (2%), G2a (1%) and N (1%). These results confirm previously published preliminary B&H population data published over 10 years ago, especially the prediction about B&H population being a part of the Western Balkan area, which served as the Last Glacial Maximum refuge for the Paleolithic human European population. Furthermore, the results corroborate the hypothesis that this area was a significant stopping point on the “Middle East-Europe highway” during the Neolithic farmer migrations. Finally, since these results are almost completely in accordance with previously published data on B&H and neighboring populations that were generated by Y chromosome single nucleotide polymorphism (Y-SNP) analysis, it can be concluded that in silico analysis of Y-STRs is a reliable method for approximation of the Y chromosome haplogroup diversity of an examined population

Genetic Polymorphisms of 15 STR Loci within Turkish Student Population Living in Sarajevo, Bosnia and Herzegovina

Allele frequencies of 15 STRs included in the PowerPlex 16 System (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, VWA, D8S1179, TPOX and FGA) were calculated from the referent sample of 100 unrelated individuals of both sexes from Turkish student population living in Sarajevo, Bosnia and Herzegovina. Buccal swab, as a source of DNA, was collected from the volunteers from whom the informed consent form was obtained. DNA extraction was performed using QIAamp DNA Micro kit by Qiagen. DNA template ranging from 0.5 to 2 ng was used to amplify 15 STR loci by PCR multiplex amplification which was performed by using the PowerPlex 16 kit (Promega Corp., Madison, WI, USA) according to the manufacturer’s protocol. The amplifications were carried out in a PE Gene Amp PCR System thermal cycler (Applied Biosystems) and capillary electrophoresis was car- ried out in an ABI PRISM 310 Genetic Analyzer (Applied Biosystems) in accordance with the manufacturer’s recommen- dations. The frequency of each locus was calculated from the numbers of each observed genotype. Deviation from Hardy- -Weinberg equilibrium and observed heterozygosity were calculated. Data were analyzed by using Microsoft Excel work- book template – Powerstats V12 and the power of discrimination (PD), power of exclusion (PE), as well as other popula- tion genetic indices for the 15 STR loci were calculated. Obtained results contribute to existing Turkish DNA database, as well as insight of differences and similarities in comparison to population of Bosnia and Herzegovina. In addition, 13 autosomal STR loci frequencies (D3S1358, TH01, D21S1 1, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSFIPO, Penta D, VWA, D8S1 179, TPOX, and FGA) were studied in 15 different worldwide populations (Turkish, Bosnian, Croatian, Serbian, Montenegrin, Macedonian, Albanian, Kosovan, Greek, Russian, Japanese, Korean, Lithua- nian, Iraqi, Belarusian). For the proof of corresponding data, two different Turkish population STR data obtained from previously published articles were compared with our data and this showed that our data correspond to these 2 previ- ously published data. Further, STR allele frequency data for 13 loci for each population were obtained from previous sci- entific articles and the allele frequencies and genetic diversity among the 15 sample populations were compared. In addi- tion, even though the populations are from different nationalities, the STR data are similar among the geographically close populations. The phylogenetic tree established among worldwide populations and genetic distance values show a great affinity among the 15 populations. Our data is useful for anthropological and further comparative genetic studies of populations

Minichromosome maintenance protein 10 (mcm10) regulates hematopoietic stem cell emergence in the zebrafish embryo

: Hematopoietic stem cells (HSCs) guarantee the continuous supply of all blood lineages during life. In response to stress, HSCs are capable of extensive proliferative expansion, whereas in steady state, HSCs largely remain in a quiescent state to prevent their exhaustion. DNA replication is a very complex process, where many factors need to exert their functions in a perfectly concerted manner. Mini-chromosome-maintenance protein 10 (Mcm10) is an important replication factor, required for proper assembly of the eukaryotic replication fork. In this report, we use zebrafish to study the role of mcm10 during embryonic development, and we show that mcm10 specifically regulates HSC emergence from the hemogenic endothelium. We demonstrate that mcm10-deficient embryos present an accumulation of DNA damages in nascent HSCs, inducing their apoptosis. This phenotype can be rescued by knocking down p53. Taken all together, our results show that mcm10 plays an important role in the emergence of definitive hematopoiesis

A Decade of the Common FTO Rs9939609 Polymorphism: A Systematic Review

Several association studies focusing on FTO gene polymorphisms have been published in the past years; however, the association between FTO-related conditions and FTO gene variants remains unexplained. Population genetics and association studies of different populations provide a valuable tool for further research. Thus, the aim of this systematic review is to summarize current knowledge on the FTO SNP rs9939609, and its association with presumably related conditions. The study included original research articles collected from PubMed and ResearchGate databases that were published in the period between 2007 and November 2017, and that provide information on rs9939609 mutant allele frequency and its probable association with any condition suspected of being related to the mutant allele. Genotype data was extracted and analyzed, and missing data was obtained from secondary sources. Short summaries of relevant studies from primary sources are organized in an overview table. The results of the systematic review suggest that mutant allele A is the most prevalent in European populations and least frequent on the Far East. In addition, it has been concluded that allele A is a good tool for the prediction of an increased risk of higher-than-normal BMI in a person carrying it, as well as that allele A should be further analyzed as a possible risk marker for type 2 diabetes mellitus and polycystic ovary syndrome development

How does mother's working status and number of siblings affect school age child trauma presenting to the emergency department

 Background: The aim of this study was to investigate the effects of mother working status and siblings on school-age child trauma admitted to the emergency department and to investigate school-age traumas.Methods: This prospective study was conducted with the approval of the ethics committee in the emergency department of a training and research hospital. All demographic data of the school-aged children (66 months-18 years) who applied to the emergency department, the location of the trauma, the mechanism of occurrence, the mother's working status, the presence and number of siblings, the duration of stay in the emergency department, clinical outcome and hospital service cost were recorded.Results: A total of 794 children were included in the study. 263(33.1%) were girls and 531(66.9%) were boys. Soft tissue trauma was the most common (94.3%). The place of the trauma was 62.7% out of school and 37.3% in school. When mother working conditions were analyzed, it was seen that 34.2% did not work. 97.1% of the children had one or more siblings. The most common trauma mechanism (65.6%) was collision and the second (60.6%) was falls. 99.1% of the patients were discharged. The length of stay in the emergency department of the Grade-schooler age group was higher than the Teen age group (p: 0,000). The length of stay in emergency department was higher in patients without siblings (p: 0.017). It was observed that those whose mothers did not work remained in the emergency room longer (p: 0,000). It was found that the ones whose mothers did not work mostly came with trauma mechanism as a result of falling (65.4%) (p: 0.044).Conclusions: Providing education for protection from accidents in schools and out of school to all people, especially children, parents and teachers, and making safe playgrounds with solid floors will minimize accident and injury rates and severity levels

COMPARATIVE ANALYSIS OF THE EFICENCY OF POWERPLEX 16 AND POWERPLEX FUSION MULTIPLEX STR KITS IN THE ANALYSIS OF THE CHALLENGING FORENSIC SAMPLES

Since the introduction of the term low copy number DNA, also referred as low template DNA, touch DNA or trace DNA analysis, it has quickly become focal point of forensic DNA testing as well as other DNA based studies. Low template DNA (ltDNA) samples can be described as the samples which involve single source samples with template DNA in concentrations below 100 picograms (pg). Due to sensitivity of ltDNA samples to contamination, it is of great importance to optimize performance of the multiplex STR systems and existing protocols to increase chance of successful analysis. The main objective of this study was analysis of 20 challenging samples (skeletal remains, cigarette buts, chewing gum, poorly collected buccal swabs etc.) mostly low template DNA samples, preliminarily profiled by PowerPlex® 16 multiplex STR systems and additionally processed with new generation multiplex STR kit PowerPlex® Fusion. Sample isolation was done using a standard phenol-chloroform method for bone samples and DNeasy® Blood and Tissue Kit for other forensic samples. PowerPlex® 16 (PP16), multiplex STR system and PowerPlex® Fusion (PP Fusion) were used for co-amplification of 15 and 24 autosomal STR loci respectively. Results of this preliminary study suggest that PP Fusion primer set is better optimized for the analysis of ltDNA samples, and it is more robust regarding presence of the potential PCR inhibitors

A Decade of the Common FTO Rs9939609 Polymorphism: A Systematic Review

Several association studies focusing on FTO gene polymorphisms have been published in the past years; however, the association between FTO-related conditions and FTO gene variants remains unexplained. Population genetics and association studies of different populations provide a valuable tool for further research. Thus, the aim of this systematic review is to summarize current knowledge on the FTO SNP rs9939609, and its association with presumably related conditions. The study included original research articles collected from PubMed and ResearchGate databases that were published in the period between 2007 and November 2017, and that provide information on rs9939609 mutant allele frequency and its probable association with any condition suspected of being related to the mutant allele. Genotype data was extracted and analyzed, and missing data was obtained from secondary sources. Short summaries of relevant studies from primary sources are organized in an overview table. The results of the systematic review suggest that mutant allele A is the most prevalent in European populations and least frequent on the Far East. In addition, it has been concluded that allele A is a good tool for the prediction of an increased risk of higher-than-normal BMI in a person carrying it, as well as that allele A should be further analyzed as a possible risk marker for type 2 diabetes mellitus and polycystic ovary syndrome development

Practical recommendations of the EAU-ESPU guidelines committee for monosymptomatic enuresis-Bedwetting

Background and Aims The objective of this update of the EAU-ESPU guidelines recommendations for nocturnal enuresis was to review the recent published literature of studies, reviews, guidelines regarding the etiology, diagnosis and treatment options of nocturnal enuresis and transform the information into a practical recommendation strategy for the general practitioner, pediatrician, pediatric urologist and urologist. Material and Methods Since 2012 a monthly literature search using Scopus (R) was performed and the relevant literature was reviewed and prospectively registered on the European Urology bedwetting enuresis resource center (). In addition, guideline papers and statements of the European Society for Paediatric Urology (ESPU), the European Association of Urology (EAU), the National Institute for Health and Care Excellence (NICE) and the International Children Continence Society (ICCS) were used to update the knowledge and evidence resulting in this practical recommendation strategy. Recommendations have been discussed and agreed within the working group of the EAU-ESPU guidelines committee members. Results The recommendations focus to place the child and his family in a control position. Pragmatic analysis is made of the bedwetting problem by collecting voiding and drinking habits during the day, measuring nighttime urine production and identification of possible risk factors such as high-volume evening drinking, nighttime overactive bladder, behavioral or psychological problems or sleep disordered breathing. A questionnaire will help to identify those risk factors. Conclusion Motivation of the child is important for success. Continuous involvement of the child and the family in the treatment will improve treatment compliance, success and patient satisfaction

Are there any benefits of using an inlay graft in the treatment of primary hypospadias in children?:A systematic review and metanalysis

INTRODUCTION: Dorsal inlay graft urethroplasty (DIGU) has been described as an effective method for hypospadias repair with the proposed advantage of reducing the risk of complications. We aimed to systematically assess whether DIGU has any additional advantages over standard tubularized incised plate urethroplasty (TIPU) repair in children with primary hypospadias. MATERIALS AND METHODS: This systematic review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Statement. The a priori protocol is available at the PROSPERO database (CRD42020168305). A literature search was conducted for relevant publications from 1946 until January 10, 2020 in seven different databases. Randomized controlled trials (RCTs), comparative studies (TIPU vs DIGU) and single arm case series (>20 cases) of DIGU were eligible for inclusion. Secondary hypospadias, two-stage repairs, disorders of sex development, significant curvature of >30°, and a mean or median follow-up of less than 12 months were excluded. DISCUSSION: A total of 499 articles were screened and 14 studies (3 RCTs, 5 non-randomized studies (NRSs), and 6 case series) with a total of 1753 children (distal: 1334 (76%) and proximal: 419 (24%)) were found eligible. Mean follow-up of the studies was between 16 and 77 months. DIGU was found superior to TIPU in decreasing meatal/neourethral stenosis (p = 0.02, 95% CI 0.02-0.78). All other parameters were found comparable including overall complications, fistula and glans dehiscence rates. Success rates were similar among the groups ranging between 48% and 96% for DIGU and 43-96% in the TIPU group. The lack of standardization in the definition of complications and success was the major limitation of this study. CONCLUSIONS: Using an inlay graft during primary hypospadias repair decreases the risk of meatal/neourethral stenosis. However, current evidence does not demonstrate superiority of DIGU over TIPU in terms of treatment success and overall complication rates