Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics

Abrasion Prediction at Kayraktepe Sediment Bypass Tunnel in Turkey

Sediment accumulation in reservoirs is a challenging issue that concerns most of the reservoirs worldwide. Use of sediment bypass tunnels is one of the potential solutions to reduce sediments deposited in reservoirs. However, the sediment bypass tunnels could face major invert abrasion problems due to intense bedload sediment transportation. Three existing abrasion prediction models are introduced developed respectively by Ishibashi (1983), Sklar and Dietrich (2004), and Auel et al. (2015). Those models are applied to estimate the abrasion of the Kayraktepe sediment bypass tunnels in Turkey. The Ishibashi (1983) model results reveal some discrepancies when compared to laboratory data, which reflects that its grinding stress term gives much higher values than its particle impact term does. However, when examining the effect of particle impact term by neglecting the grinding stress, the model predicts consistent results. The model by Auel at al. (2015) demonstrates reasonable predictions in case of regulated abrasion coefficient values are used. The model of Sklar and Dietrich (2004) predicts the lowest abrasion value due to its development according to the subcritical flow conditions. In Kayraktepe dam, the flow condition in sediment bypass tunnels are supercritical flow, thus the Sklar and Dietrich (2004) model does not fit for abrasion estimation. Modifications are made to the Sklar and Dietrich (2004) model are the revised model shows great improvement on the abrasion prediction. It is concluded that the estimation of sediment transport rate using commonly adapted theoretical or empirical formulations tends to be predicted more than the real transport rate and results in the over-estimation of the abrasion rate. It is recommended to modify the formulations and equation coefficients with the inputs of the field data on laboratory measurements for bettering the abrasion prediction.Civil and Environmental Engineering, Department o

Pathogens in Pediatric Septic Arthritis: A Multi-Center Study in Turkiye (PEDSART Study)

Objectives: Septic arthritis (SA) is a serious bacterial infection that must be treated efficiently and timely. The large number of culture-negative cases makes local epidemiological data important. Accordingly, this study aimed to evaluate the etiology, clinical characteristics, and therapeutic approach of SA in children in Turkiye, emphasizing the role of real-time polymerase chain reaction (PCR) techniques in the diagnosis. Methods: In this multi-center, prospective study, children hospitalized due to SA between February 2018 and July 2020 in 23 hospitals in 14 cities in Turkiye were included. Clinical, demographic, laboratory, and radiological findings were assessed, and real-time PCR was performed using synovial fluid samples. Results: Seventy-five children aged between 3 and 204 months diagnosed with acute SA were enrolled. Joint pain was the main complaint at admission, and the most commonly involved joints were the knees in 58 patients (77.4%). The combination of synovial fluid culture and real-time PCR detected causative bacteria in 33 patients (44%). In 14 (18.7%) patients, the etiological agent was demonstrated using only PCR. The most commonly isolated etiologic agent was Staphylococcus aureus, which was detected in 22 (29.3%) patients, while Streptococcus pyogenes was found in 4 (5.3%) patients and Kingella kingae in 3 (4%) patients. Streptococcus pyogenes and Kingella kingae were detected using only PCR. Most patients (81.3%) received combination therapy with multiple agents, and the most commonly used combination was glycopeptides plus third-generation cephalosporin. Conclusions: Staphylococcus aureus is the main pathogen in pediatric SA, and with the use of advanced diagnostic approaches, such as real-time PCR, the chance of diagnosis increases, especially in cases due to Kingella kingae and Streptococcus pyogenes

Prevalence of Anosmia in 10.157 Pediatric COVID-19 Cases: Multicenter Study from Turkey.

Introduction: COVID-19-related anosmia is a remarkable and disease-specific finding. With this multicenter cohort study, we aimed to determine the prevalence of anosmia in pediatric cases with COVID-19 from Turkey and make an objective assessment with a smell awareness questionnaire. Material and Methods: This multicenter prospective cohort study was conducted with pediatric infection clinics in 37 centers in 19 different cities of Turkey between October 2020 and March 2021. The symptoms of 10.157 COVID-19 cases 10-18 years old were examined. Age, gender, other accompanying symptoms, and clinical severity of the disease of cases with anosmia and ageusia included in the study were recorded. The cases were interviewed for the smell awareness questionnaire at admission and one month after the illness. Results: Anosmia was present in 12.5% (1.266/10.157) of COVID-19 cases 10-18 years of age. The complete records of 1053 patients followed during the study period were analyzed. The most common symptoms accompanying symptoms with anosmia were ageusia in 885 (84%) cases, fatigue in 534 cases (50.7%), and cough in 466 cases (44.3%). Anosmia was recorded as the only symptom in 84 (8%) of the cases. One month later, it was determined that anosmia persisted in 88 (8.4%) cases. In the smell awareness questionnaire, the score at admission was higher than the score one month later (P < 0.001). Discussion: With this study, we have provided the examination of a large case series across Turkey. Anosmia and ageusia are specific symptoms seen in cases of COVID-19. With the detection of these symptoms, it should be aimed to isolate COVID-19 cases in the early period and reduce the spread of the infection. Such studies are important because the course of COVID-19 in children differs from adults and there is limited data on the prevalence of anosmia