Acil servis tanilari ile paramediklerin ilk degerlendirme tanilarinin karsilastirilmasi.

BACKGROUND: This study aims to evaluate the accuracy and quality of prehospital assessments and preliminary diagnoses made by Emergency Medical Services (EMS) providers compared to the final diagnoses given by Emergency Department physicians in a metropolitan area. METHODS: This retrospective observational study utilized records from the Yenimahalle EMS Command Center in Ankara, Türkiye, from January 1, 2021, to December 31, 2022. Data were recorded as cases rather than individual patients, with repeated EMS admissions counted separately. Cases were categorized by EMS call time, reasons for EMS requests, age, gender, nationality, and weekday of hospital arrival to assess socioeconomic impacts and congestion patterns. The study included 2.528 pediatric cases, excluding patients aged 18 and older, those who refused EMS transfer, and cases resolved at the scene. Data analysis was conducted using IBM SPSS 27.0, with statistical significance set at p<0.05. RESULTS: The study included 2.528 cases. The data revealed that EMS providers had an average of 9.9±4.7 years of experience. In 1.839 cases (72.7%), the EMS provider was female, and in 689 cases (27.3%), the EMS provider was male. Patients had an average age of 9.2±5.8 years, with 1.173 (46.4%) being female and 1.355 (53.6%) being male. Preliminary diagnosis accuracy was higher in cases involving younger and male patients. Additionally, a lower preliminary diagnosis accuracy rate was observed during office hours (08: 00-15: 59) compared to non-office hours (16: 00-23: 59). The majority of EMS calls were for medical reasons (1,783 cases, 70.5%), followed by trauma-related calls (745 cases, 29.5%). CONCLUSION: This study highlights the need for improved on-field training for EMS providers to enhance the accuracy and quality of prehospital assessments and preliminary diagnoses. The findings suggest that younger and male patients have higher preliminary diagnosis accuracy rates, and there is a noticeable decrease in accuracy during office hours, indicating potential areas for targeted training and protocol adjustments.

Evaluation of Hemoglobin and Eosinophil Count in Patients Receiving Thrombolytic Treatment.

Background and aim Stroke ranks among the primary contributors to disability and mortality on a global scale. Recent advances in ischemic stroke pathophysiology emphasize the significant role of the immune system in both stroke-related damage and neuroprotection. This article investigates the relationship between hemoglobin level and white blood cell count. Materials and methods From January 1, 2019, to April 1, 2022, all patients aged 18 years and over who were diagnosed with acute ischemic stroke in the emergency department of Kanuni Sultan Süleyman Training and Research Hospital and treated with intravenous recombinant tissue plasminogen activator (r-tPA) within 4.5 hours of stroke onset were included in this cross-sectional retrospective study. Gender, age, onset of symptoms, complaints, National Institutes of Health Stroke Scale (NIHSS) score, stroke-affected area, as well as leukocyte, neutrophil, platelet, eosinophil, lymphocyte, and hemoglobin levels were recorded and compared between mortality and survivor groups. Results A total of 61 people, including 33 men and 28 women, were included in the study. Four patients died during follow-ups. The mean duration of symptoms upon admission was 86.23 ± 56.37 minutes. The mean NIHSS score of patients was found to be 9.16 ± 3.88 (minimum: 4, maximum: 18). There was a statistically significant positive correlation between age and symptom duration (p < 0.002, r: 0.391). A statistically significant negative correlation was found between eosinophil count and NIHSS score (p < 0.012, r: -0.321) and between eosinophil count and symptom duration (p < 0.042, r: -0.261). There was a negative correlation between hemoglobin levels and mortality (p < 0.013, r: -0.318). A statistically significant negative correlation was observed between the eosinophil-to-neutrophil ratio (ENR) and NIHSS score (p < 0.017, r: -0.305) as well as between ENR and symptom duration (p < 0.034, r: -0.271). Hemoglobin is a significant predictor of mortality in the logistic regression model (p < 0.05, CI: 0.253-0.942). For each one-unit increase in hemoglobin, the odds of mortality decrease by a factor of 0.488. Conclusion Certain blood cell types (neutrophils, eosinophils, and lymphocytes) play an active role in determining stroke prognosis. A detailed explanation of the role of leukocyte types lays the foundation for "immunomodulation," which could be a promising novel treatment modality for future stroke patients.

Loss of Dnajc21 leads to cytopenia and altered nucleotide metabolism in zebrafish.

Mutations in the DNAJC21 gene were recently described in Shwachman-Diamond syndrome (SDS), a bone marrow failure syndrome with high predisposition for myeloid malignancies. To study the underlying biology in hematopoiesis regulation and disease, we generated the first in vivo model of Dnajc21 deficiency using the zebrafish. Zebrafish dnajc21 mutants phenocopy key SDS patient phenotypes such as cytopenia, reduced growth, and defective protein synthesis. We show that cytopenia results from impaired hematopoietic differentiation, accumulation of DNA damage, and reduced cell proliferation. The introduction of a biallelic tp53 mutation in the dnajc21 mutants leads to the development of myelodysplastic neoplasia-like features defined by abnormal erythroid morphology and expansion of hematopoietic progenitors. Using transcriptomic and metabolomic analyses, we uncover a novel role for Dnajc21 in nucleotide metabolism. Exogenous nucleoside supplementation restores neutrophil counts, revealing an association between nucleotide imbalance and neutrophil differentiation, suggesting a novel mechanism in dnajc21-mutant SDS biology.

An Analysis of Referrals Done by Primary Care Centers to Tertiary Care Institutions.

Background and aim Primary care is an important element for every healthcare system around the world. Providing and optimizing the connection between the primary care centers and advanced clinical centers is a key concept for a well-functioning healthcare system. Our aim in this study was to analyze and review the referral data of primary care centers located in Ankara, Türkiye. Materials and methods We collected the entire referral data from the primary care centers, totaling 8,746 patients between January 1, 2019 and December 31, 2023 by using emergency medical services (EMS) transfer in Ankara. Demographic data, call reasons, transfer centers and transfer-related characteristics of the patients were recorded retrospectively, grouped by year, using EMS data. Results Our findings have shown that most of the referrals were made for Turkish citizens with 8,360 (95.6%) (p<0.001). Healthcare centers located in inner city had the most referrals made with 7,087 (81.0%) (p<0.001). Majority of the referrals were made by physicians in family healthcare centers with 6,583 (75.3%) (p<0.001) with chest pain being the most common diagnosis for referral initiation with 1,429 (16.3%) (p<0.001). This was followed by trauma, with 1,172 (13.4%) (p<0.001). Most common cause for trauma was falls with 613 (52.3%) (p<0.001). Conclusion Our data revealed important elements of local referral patterns. According to our data, majority of the referrals were made by inner city healthcare facilities. Family healthcare centers formed most of the referral requests. For this reason, strengthening these centers is important to prevent unnecessary resource use and delays.

Thiamine status and genes encoding intestinal thiamine transporters and transcription factors in obese subjects.

BACKGROUND AND AIMS: The inconsistent data on thiamine status in obese subjects necessitates an examination of genes associated with intestinal absorption of thiamine. We aimed to reveal thiamine status in obese subjects and examine the expression of SLC19A2/3 genes encoding thiamine transporters and Sp1 transcription factor. METHODS AND RESULTS: Thirty-five adult obese subjects and 11 healthy controls were included in this cross-sectional study. Small intestine epithelial cells were used for quantitative RT-PCR analysis of the gene expression. The daily thiamine and energy intake were assessed with a food frequency questionnaire. Thiamine phosphate esters were hydrolyzed to free thiamine, and liquid chromatography with a tandem mass spectrometry-based method was used to measure total thiamine in whole blood. Daily energy intake according to body weight and daily carbohydrate intake were not significantly different between groups after adjustment for sex. Although daily thiamine intake was significantly lower in the obesity group (p = 0.015), obese subjects had significantly higher whole blood thiamine levels than controls (44.96 ± 14.6 ng/mL and 33.05 ± 8.6 ng/mL, p = 0.002). There was a significant positive correlation between whole blood thiamine and BMI (r = 0.342, p = 0.020). SLC19A2 gene expression was lower in those with BMI ≥35 kg/m2 (p = 0.036). A significant positive correlation was found between SLC19A2 expression and whole blood thiamine level (r = 0.310, p = 0.038). CONCLUSION: A possible association between intestinal thiamine intake and total thiamine in whole blood was determined. The transcriptional changes of genes encoding the high-affinity membrane thiamine transporters, especially SLC19A2, probably play a role in this relationship.

An effective colorectal polyp classification for histopathological images based on supervised contrastive learning.

Early detection of colon adenomatous polyps is pivotal in reducing colon cancer risk. In this context, accurately distinguishing between adenomatous polyp subtypes, especially tubular and tubulovillous, from hyperplastic variants is crucial. This study introduces a cutting-edge computer-aided diagnosis system optimized for this task. Our system employs advanced Supervised Contrastive learning to ensure precise classification of colon histopathology images. Significantly, we have integrated the Big Transfer model, which has gained prominence for its exemplary adaptability to visual tasks in medical imaging. Our novel approach discerns between in-class and out-of-class images, thereby elevating its discriminatory power for polyp subtypes. We validated our system using two datasets: a specially curated one and the publicly accessible UniToPatho dataset. The results reveal that our model markedly surpasses traditional deep convolutional neural networks, registering classification accuracies of 87.1% and 70.3% for the custom and UniToPatho datasets, respectively. Such results emphasize the transformative potential of our model in polyp classification endeavors.

CDCA7-associated global aberrant DNA hypomethylation translates to localized, tissue-specific transcriptional responses.

Disruption of cell division cycle associated 7 (CDCA7) has been linked to aberrant DNA hypomethylation, but the impact of DNA methylation loss on transcription has not been investigated. Here, we show that CDCA7 is critical for maintaining global DNA methylation levels across multiple tissues in vivo. A pathogenic Cdca7 missense variant leads to the formation of large, aberrantly hypomethylated domains overlapping with the B genomic compartment but without affecting the deposition of H3K9 trimethylation (H3K9me3). CDCA7-associated aberrant DNA hypomethylation translated to localized, tissue-specific transcriptional dysregulation that affected large gene clusters. In the brain, we identify CDCA7 as a transcriptional repressor and epigenetic regulator of clustered protocadherin isoform choice. Increased protocadherin isoform expression frequency is accompanied by DNA methylation loss, gain of H3K4 trimethylation (H3K4me3), and increased binding of the transcriptional regulator CCCTC-binding factor (CTCF). Overall, our in vivo work identifies a key role for CDCA7 in safeguarding tissue-specific expression of gene clusters via the DNA methylation pathway.

Evaluation of the relationship between atherosclerosis and Helicobacter pylori infection with measurement of growth differentiation factor 15 and atherosclerosis indicators in adults with no comorbidity.

BACKGROUND: The aim of this study was to investigate presence of subclinical atherosclerosis by measuring carotid intima-media thickness (CIMT) in patients with Helicobacter pylori (HP) and to assess effects of HP on atherosclerosis by evaluating markers of atherosclerosis and blood growth differentiation factor (GDF-15) levels. MATERIALS AND METHODS: This cross-sectional study included 59 patients without comorbid disease who had HP and 30 healthy controls without HP in upper endoscopic biopsy. In order to assess atherosclerosis, the CIMT measurement was performed by sonography. Serum GDF-15 level was measured by ELISA method. In all patients, atherosclerosis markers were recorded. Atherogenic indices were calculated, including Castelli risk index I and II (TG/HDL-c and LDL-c/HDL-c, respectively), plasma atherogenic index (PAI; log TG/HDL-c), non-HDL-c (TH-HDL-c) and atherogenic coefficient (AC; non-HDL-HDL-c). RESULTS: The GDF-15 level and CIMT were significantly higher in HP-positive group when compared to HP-negative group (p≤0.001). There was a significant correlation between serum GDF-15 level and CIMT (r=0.445; p≤0.001). There was no correlation between other atherosclerosis markers and serum GDF-15 level or CIMT. The bacterial intensity on endoscopic specimen was only correlated with CIMT (p<0.001). Vitamin B12 and D levels were comparable among groups. CONCLUSION: This study suggested that there was a correlation between GDF-15 level and subclinical atherosclerosis development in patients with HP. However, GDF-15 level, which was found to be elevated while atherogenic indices were normal, can be an earlier marker for subclinical atherosclerosis.

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.

Is Penile Doppler Ultrasonography Overdiagnosed?

AIM: The objective of this study was to determine whether penile Doppler ultrasonography (USG) examinations, combined with the administration of intracavernosal vasoactive agents, were correctly performed as a second-line diagnostic method with the proper indications in a select patient group. METHODS: A total of 200 patients who underwent penile Doppler ultrasounds in our clinic were included in the study. Patients' demographic data were collected, information about their medical-sexual history was taken, physical examinations were performed, and laboratory analyses were conducted. Patients were informed in detail about the process, and their consent was given prior to the study. Procedure outcomes and complications were also recorded. The relationship of vasculogenic pathologies was analysed, and the rate of abnormal results and complications was compared with the existing literature. RESULTS: Following the investigations, abnormal results were found in 24.5% of patients, while this rate was 6.8% in patients under the age of 40. Arterial insufficiency was found in 31 patients and venous insufficiency in 18 patients. Five patients had both pathologic conditions. No statistically significant correlation was found between arterial insufficiency and age, while venous insufficiency was significantly correlated with age (p=0.006). CONCLUSION: Penile Doppler ultrasounds should only be ordered for a carefully selected patient group. Ordering ultrasounds without a proper indication can result in unnecessary labour and financial loss, as well as an increase in invasive procedures.

Improved classification of colorectal polyps on histopathological images with ensemble learning and stain normalization.

BACKGROUND AND OBJECTIVE: Early detection of colon adenomatous polyps is critically important because correct detection of it significantly reduces the potential of developing colon cancers in the future. The key challenge in the detection of adenomatous polyps is differentiating it from its visually similar counterpart, non-adenomatous tissues. Currently, it solely depends on the experience of the pathologist. To assist the pathologists, the objective of this work is to provide a novel non-knowledge-based Clinical Decision Support System (CDSS) for improved detection of adenomatous polyps on colon histopathology images. METHODS: The domain shift problem arises when the train and test data are coming from different distributions of diverse settings and unequal color levels. This problem, which can be tackled by stain normalization techniques, restricts the machine learning models to attain higher classification accuracies. In this work, the proposed method integrates stain normalization techniques with ensemble of competitively accurate, scalable and robust variants of CNNs, ConvNexts. The improvement is empirically analyzed for five widely employed stain normalization techniques. The classification performance of the proposed method is evaluated on three datasets comprising more than 10k colon histopathology images. RESULTS: The comprehensive experiments demonstrate that the proposed method outperforms the state-of-the-art deep convolutional neural network based models by attaining 95% classification accuracy on the curated dataset, and 91.1% and 90% on EBHI and UniToPatho public datasets, respectively. CONCLUSIONS: These results show that the proposed method can accurately classify colon adenomatous polyps on histopathology images. It retains remarkable performance scores even for different datasets coming from different distributions. This indicates that the model has a notable generalization ability.

Discrepancy between German S3 Guideline Recommendations and Daily Urologic Practice in the Management of Nonmuscle Invasive Bladder Cancer: Results of a Binational Survey.

INTRODUCTION: Guideline recommendations are meant to help minimize morbidity and to improve the care of nonmuscle invasive bladder cancer (NMIBC) patients but studies have suggested an underuse of guideline-recommended care. The aim of this study was to evaluate the level of adherence of German and Austrian urologists to German guideline recommendations. METHODS: A survey of 27 items evaluating diagnostic and therapeutic recommendations (15 cases of strong consensus and 6 cases of consensus) for NMIBC was administered among 14 urologic training courses. Survey construction and realization followed the checklist for reporting results of internet e-surveys and was approved by an internal review board. RESULTS: Between January 2018 and June 2019, a total of 307 urologists responded to the questionnaire, with a mean response rate of 71%. The data showed a weak role of urine cytology (54%) for initial diagnostics although it is strongly recommended by the guideline. The most frequently used supporting diagnostic tool during transurethral resection of the bladder was hexaminolevulinate (95%). Contrary to the guideline recommendation, 38% of the participants performed a second resection in the case of pTa low-grade NMIBC. Correct monitoring of Bacille Calmette-Guérin (BCG) response with cystoscopy and cytology was performed by only 34% of the urologists. CONCLUSIONS: We found a discrepancy between certain guideline recommendations and daily routine practice concerning the use of urine cytology for initial diagnostics, instillation therapy with a low monitoring rate of BCG response, and follow-up care with unnecessary second resection after pTa low-grade NMIBC in particular. Our survey showed a moderate overall adherence rate of 73%. These results demonstrate the need for sharpening awareness of German guideline recommendations by promoting more intense education of urologists to optimize NMIBC care thus decreasing morbidity and mortality rates.

Effect of Chemokine Gene Variants on Covid-19 Disease Severity.

Patients immune phenotype/genotype data may be useful to understand the molecular mechanisms involved in SARS-CoV-2 infection and can contribute to the identify the different levels of disease severity. The roles of chemokines have been reported in the coronavirus-related diseases SARS and MERS and they may likewise play a critical role in the development of the symptoms of COVID-19 disease. We analyzed the association of the MCP-1-A2518 G, SDF-1-3'A, CCR5-delta32, CCR5-A55029 G, CXCR4-C138T and CCR2-V64I gene polymorphisms with COVID-19 severity to further unveil the immunological pathways leading to disease severity and death. Polymerase chain reaction(PCR)/Sanger sequencing analysis was performed for detection of the variations in 60 asymptomatic and 119 severe COVID-19 patients. In our study, we found that the frequencies of MCP-1 of GA genotype and G allele carriers were significantly higher in severe COVID-19 patients than the asymptomatic COVID-19 patients (p < .0001 and p: .005, respectively). However, no significant association was found for any of the other polymorphisms with the severity of COVID-19. Our findings suggest that there is a positive association between MCP-1-A2518 G gene variants with the severity of COVID-19. However, larger studies in different population which will focus on gene expression levels will help us to understand the capability of the mechanism role.

Correlation between Academic Citations in Emergency Medicine Journals and Twitter mentions.

INTRODUCTION: Twitter may be used in disseminating scientific information that can be measured via citations by traditional systems. We aimed to investigate the relationship between Twitter mentions, traditional citations including Google Scholar and Scopus, and the metric value of Altmetric for articles published in emergency medicine journals. METHODS: Articles published in emergency medicine journals between January 2018 and June 2018 were retrospectively analyzed in February 2021. Journals included with an impact factor of >1 and indexed in Q1. Metric data about citations in Google Scholar and Scopus, the metric value of the Altmetric system, and Twitter mentions were obtained. RESULTS: There were 502 articles published in different seven emergency medicine journals. Fifty-four articles (10.8%) were never cited in Google Scholar or Scopus. There were 79 articles (15.7%) without Twitter mention. Twitter mentions as a tweet or no tweet impacted the number of articles with citation (p > 0.05). The number of citations per article was significantly higher in articles with Twitter mentions (p = 0.002 for Google Scholar citations, p = 0.005 for Scopus citations). Altmetric cited articles were significantly higher for articles with Twitter mentions (p < 0.001). There were significant positive correlations between the number of Twitter mentions and citations in Scopus (r = 0.30, p < 0.001), in both Google Scholar and Scopus (r = 0.19, p < 0.001), and in Altmetrics (r = 0.852, p < 0.001). CONCLUSION: There were positive correlations between numbers of Twitter mentions, traditional citations, including Google Scholar and Scopus, and metric values of the Altmetric system. This finding supports that increased social media citations are associated with increased dissemination and disclosure of publications.

Comparison of Autologous Rectus Fascia and Synthetic Sling Methods of Transobturator Mid-Urethral Sling in Urinary Stress Incontinence.

OBJECTIVE: This study aims to compare the efficacy and complications between mesh obtained from the autologous rectus fascia and synthetic mesh used in transobturator tape procedure in the surgical treatment of urinary stress incontinence. METHODS: A total of 62 female patients who underwent operation due to urinary stress incontinence were included in the study. From these, 31 patients underwent autologous rectus fascia with mid-urethral sling (Group 1), and the remaining 31 patients underwent the same operation using synthetic multilaminar propylene sling (Group 2). The groups were compared preoperative and postoperative according to results of Urogenital Distress Inventory-Short Form (UDI-6) and Incontinence Impact Questionnaire-Short Form (IIQ-7). Demographic characteristics, surgical features, and complications were also compared between the groups. P < 0.05 values were considered statistically significant. RESULTS: The mean age was found as 54.74 ± 0.87 in Group 1 and 55.58 ± 0.76 in Group 2. There was no significant difference between the groups in terms of the preoperative and postoperative UDI-6 results ​​(p=0.258, p=0.349). Similarly, the preoperative and postoperative IIQ-7 results did not show a significant difference between the groups (p=0,483, p=0,367). There was also no significant difference in demographic characteristics and complications between the groups. Only the mean operational time was significantly longer in Group 1 (p=0.029). CONCLUSION: Transobturator tape procedure with autologous rectus fascia is as effective and safe as synthetic mesh. This procedure provides an inexpensive and consumable option without posing a risk of mesh erosion and with low complication rates.

Utility of non-invasive synchronized intermittent mandatory ventilation in acute cardiogenic pulmonary edema.

BACKGROUNDS: Acute cardiogenic pulmonary edema (ACPE), one of the outcomes of acute heart failure (AHF), is a common reason in a critical condition with respiratory distress. Non-invasive synchronized intermittent mandatory ventilation(nSIMV) mode, which includes inspiratory pressure in addition to positive end expiratory pressure with/without pressure support provided in the non-invasive continuous positive airway pressure plus/pressure support(nCPAP/PS) mode can be effective in hypercarbia and the associated changes in consciousness. This study aimed to demonstrate the efficacy of nSIMV in ACPE. METHODS: Patients who presented with clinical acute respiratory failure and were admitted to the critical care unit of the emergency department with the diagnosis of ACPE were included. Patients were placed on non-invasive mechanical ventilators with an oronasal mask under the nCPAP/PS and nSIMV modes. Pulse and respiratory rate, systolic and diastolic blood pressure and Glasgow Coma Scores(GCS), HACOR(heart rate, acidosis, consciousness, oxygenation and respiratory rate) scores, pH, PaCO2, PaO2/FiO2 and lactate at the time of admission and at 30 and 60 min were evaluated. RESULTS: Twenty-two patients were recruited, nCPAP/PS mode was 10 and nSIMV mode was 12. Although there was no statistically significant difference between the two groups in terms of the change in the relevant parameters from admission to 60 min, the decreases in PaCO2 and lactate levels (31.4% vs. 21.2%, p = 0.383; 68.8% vs. 47.1%, p = 0.224; respectively) and the increase in PaO2 and PaO2/FiO2 values (34% vs. 14.2%, p = 0.710 and 132.1% vs. 52.7%, p = 0.073; respectively) were higher in the nSIMV group. CONCLUSION: The nSIMV mode is as effective as the nCPAP/PS mode in the treatment of patients with ACPE. We believe that the nSIMV mode can be preferable, particularly in patients with hypercarbia who have relatively lower GCS and oxygenation.

Comparison of Self-Conducted and Assistant-Supervised Uroflowmetry Methods.

Objective This study aims to compare the results and patient satisfaction scores between uroflowmetry performed under the patient's control and assistant-supervised conventional uroflowmetry. Methods A total of 120 patients who had previous experience with uroflowmetry were included in the study. Patients were evaluated in two even groups of 60 patients each - those not receiving medical treatment (group 1) and those receiving medical treatment (group 2). Maximum flow rate (Qmax), average flow rate (Qave), voided volume, voiding time, post-void residual volume (PVR), and patient satisfaction survey scores were compared between the two separate uroflowmetry methods. Results There was a significant difference between assistant-supervised and self-conducted uroflowmetry in terms of Qmax, Qave, voiding time, and patient satisfaction scores. While comparing all patients, no significant difference was found in terms of PVR and voiding volume values. There was a significant difference in Qave, Qmax, PVR, and voiding time in both assistant-supervised and self-conducted uroflowmetry. As for voided volume, there was no significant difference between the groups in either procedure. When groups were evaluated within themselves, in group 1, there was a significant difference in voided volume, Qave, and PVR, while there was no significant difference in Qmax and voiding time. In Group 2, there was a significant difference in voided volume, Qave, and PVR, although there was no significant difference in Qmax and voiding time. Conclusion Maximum urine flow rate and mean urine flow rate measured by self-conducted uroflowmetry are higher than assistant-supervised (conventional) uroflowmetry, which can ensure patient privacy.

Prevalence of rare F5 variants in general population from Bosnia and Herzegovina.

Human gene F5, encoding coagulation factor V, was previously reported to be highly polymorphic. Apart from FV Leiden, several other rare variants have been detected in clinical practice and associated with thrombotic events, especially in cases when patient's phenotype and FV Leiden genotype were not in agreement. In this study, the prevalence of 17 rare F5 variants has been studied on a sample of 130 healthy adult individuals from the general Bosnian-Herzegovinian population. DNA was isolated from buccal swab samples, while genotyping was performed using MALDI-TOF MS method. The results have shown that Asp2194Gly and Met2120Thr are polymorphic in the study population with minor allele frequencies of 0.077 and 0.073, respectively. Additionally, these two variants were mutually exclusive with FV Leiden and none of them was positively associated with participants' family history of cardiovascular or cerebrovascular diseases. While the obtained results are in agreement with previously reported data for the general Caucasian populations, it is worth noting that only two rare F5 variants were detected in the study population, albeit at considerable frequencies. Still, scientific information on rare F5 variants is rather scarce and further studies aiming to assess functional importance of these variants, as well as their role as prothrombotic factors are necessary.

Haplogroup Prediction Using Y-Chromosomal Short Tandem Repeats in the General Population of Bosnia and Herzegovina.

Human Y-chromosomal haplogroups are an important tool used in population genetics and forensic genetics. A conventional method used for Y haplogroup assignment is based on a set of Y-single nucleotide polymorphism (SNP) markers deployed, which exploits the low mutation rate nature of these markers. Y chromosome haplogroups can be successfully predicted from Y-short tandem repeat (STR) markers using different software packages, and this method gained much attention recently due to its labor-, time-, and cost-effectiveness. The present study was based on the analysis of a total of 480 adult male buccal swab samples collected from different regions of Bosnia and Herzegovina. Y haplogroup prediction was performed using Whit Athey's Haplogroup Predictor, based on haplotype data on 23 Y-STR markers contained within the PowerPlex® Y23 kit. The results revealed the existence of 14 different haplogroups, with I2a, R1a, and E1b1b being the most prevalent with frequencies of 43.13, 14.79, and 14.58%, respectively. Compared to the previously published studies on Bosnian-Herzegovinian population based on Y-SNP and Y-STR data, this study represents an upgrade of molecular genetic data with a significantly larger number of samples, thus offering more accurate results and higher probability of detecting rare haplogroups.

Genetic relationships of Southwest Asian and Mediterranean populations.

The Southwest Asian, circum-Mediterranean, and Southern European populations (collectively, SWAMSE) together with Northern European populations form one of five "continental" groups of global populations in many analyses of population relationships. This region is of great anthropologic and forensic interest but relationships of large numbers of populations within the region have not been able to be cleanly resolved with autosomal genetic markers. To examine the genetic boundaries to the SWAMSE region and whether internal structure can be detected we have assembled data for a total of 151 separate autosomal genetic markers on populations in this region and other parts of the world for a global set of 95 populations. The markers include 83 ancestry informative SNPs as singletons and 68 microhaplotype loci defined by 204 SNPs. The 151 loci are ancestry informative on a global scale, identifying at least five biogeographic clusters. One of those clusters is a clear grouping of 37 populations containing the SWAMSE plus northern European populations to the exclusion of populations in South Central Asia and populations from farther East. A refined analysis of the 37 populations shows the northern European populations clustering separately from the SWAMSE populations. Within Southwest Asia the Samaritans and Shabaks are distinct outliers. The Yemenite Jews, Saudi, Kuwaiti, Palestinian Arabs, and Southern Tunisians cluster together loosely while the remaining populations from Northern Iraq, Mediterranean Europe, the Caucasus region, and Iran cluster in a more complex graded fashion. The majority of the SWAMSE populations from the mainland of Southwest Asia form a cluster with little internal structure reflecting a very complex history of endogamy and migrations. The set of 151 DNA polymorphisms not only distinguishes major geographical regions globally but can distinguish ancestry to a small degree within geographical regions such as SWAMSE. We discuss forensic characteristics of the polymorphisms and also identify those that rank highest by Rosenberg's In measure for the SWAMSE region populations and for the global set of populations analyzed. DATA AVAILABILITY: Genotypes on all 151 markers for all 3790 individuals typed in the Kidd Lab on the 72 Kidd lab populations have been deposited in the Zenodo archive and can be freely accessed at https://doi.org/10.5281/zenodo.4658892. Some of the data has been made public previously as supplemental files appended to publications. Data for the additional individuals included in the analyses was taken from already public datasets as indicated in the text.