38 research outputs found

    The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

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    IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

    Controversy and Consensus on Indications for Sperm DNA Fragmentation Testing in Male Infertility: A Global Survey, Current Guidelines, and Expert Recommendations

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    Purpose: Sperm DNA fragmentation (SDF) testing was recently added to the sixth edition of the World Health Organization laboratory manual for the examination and processing of human semen. Many conditions and risk factors have been associated with elevated SDF; therefore, it is important to identify the population of infertile men who might benefit from this test. The purpose of this study was to investigate global practices related to indications for SDF testing, compare the relevant professional society guideline recommendations, and provide expert recommendations. Materials and Methods: Clinicians managing male infertility were invited to take part in a global online survey on SDF clinical practices. This was conducted following the CHERRIES checklist criteria. The responses were compared to professional society guideline recommendations related to SDF and the appropriate available evidence. Expert recommendations on indications for SDF testing were then formulated, and the Delphi method was used to reach consensus. Results: The survey was completed by 436 experts from 55 countries. Almost 75% of respondents test for SDF in all or some men with unexplained or idiopathic infertility, 39% order it routinely in the work-up of recurrent pregnancy loss (RPL), and 62.2% investigate SDF in smokers. While 47% of reproductive urologists test SDF to support the decision for varicocele repair surgery when conventional semen parameters are normal, significantly fewer general urologists (23%; p=0.008) do the same. Nearly 70% would assess SDF before assisted reproductive technologies (ART), either always or for certain conditions. Recurrent ART failure is a common indication for SDF testing. Very few society recommendations were found regarding SDF testing. Conclusions: This article presents the largest global survey on the indications for SDF testing in infertile men, and demonstrates diverse practices. Furthermore, it highlights the paucity of professional society guideline recommendations. Expert recommendations are proposed to help guide clinicians

    Evaluation of the effect of hypervisor and container type virtualization on different workloads performance in cloud environments

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    Fiziksel kaynakların verimli kullanılabilmesini sağlayan sanallaştırma teknolojilerindeki ilerlemeler, bulut bilişim, nesnelerin interneti ve yazılım tanımlı ağ teknolojilerinin gelişiminde büyük pay sahibi olmuştur. Günümüzde hipervizör sanallaştırma çözümlerine alternatif olarak konteyner teknolojileri ortaya çıkmıştır. Bulut sağlayıcıları kullanıcılarına daha verimli ortamlar sunmak için hem hipervizör hem konteyner sanallaştırma çözümlerini destekleyen sistemleri tercih etmektedirler. Bu çalışmada, ‘Alan bilgisine dayalı’ metodoloji uygulanarak OpenStack bulut altyapısında işlemci, bellek, ağ ve disk yoğunluklu iş yüklerinin KVM hipervizör ve LXD konteyner sanallaştırma çözümleri üzerinde performans değerlendirmesi yapılmıştır. OpenStack bulut ortamında PerfKit Benchmarker ve Cloudbench kıyaslama otomasyon araçları vasıtasıyla ağ yoğunluklu iş yükü olarak Iperf, işlemci yoğunluklu iş yükü olarak HPL, bellek yoğunluklu iş yükü olarak Stream ve disk yoğunluklu iş yükü olarak Fio kıyaslama araçları kullanılarak performans testleri gerçekleştirilmiştir. Yapılan testler sonucunda OpenStack bulut altyapısında LXD sanallaştırma KVM sanallaştırmaya göre işlemci, ağ, sabit disk sürücüsünde sıralı okuma bant genişliği, saniyedeki giriş/çıkış sayısı ve sıralı yazma bant genişliği, saniyedeki giriş/çıkış sayısı iş yüklerinde daha iyi performans sergilemiştir. KVM sanallaştırma ise LXD sanallaştırmaya göre bellek, sabit disk sürücüsünde rasgele okuma bant genişliği, saniyedeki giriş/çıkış sayısında ve rasgele yazma bant genişliği, saniyedeki giriş/çıkış sayısında daha iyi performans sergilemiştir.Advances in virtualization technologies that provide efficient use of physical resources have played major role in development of technologies such as cloud computing, internet of things and software defined networks. Today, container technologies have emerged as alternative to hypervisor virtualization solutions. Cloud providers design a system that supports both hypervisor and container virtualization solutions to provide users with more efficient environments. In this study, performance evaluation of processor, memory, network and disk intensive workloads on KVM hypervisor and LXD container virtualization solutions in OpenStack cloud infrastructure has been performed by applying ‘Domain Knowledge-based Methodology’. Performance tests were performed with PerfKit Benchmarker and Cloudbench benchmark automation tools by using Iperf as a network-intensive workload, HPL as a processor-intensive workload, Stream as a memory-intensive workload and Fio as a disk-intensive workload in the OpenStack cloud environment. As a result, LXD virtualization in OpenStack infrastructure performed better than KVM in processor-intensive, network-intensive, sequential read bandwidth, sequential read input/output per second, sequential write bandwidth and sequential write input/output per second for HDD workloads. KVM virtualization in OpenStack infrastructure performed better than LXD in memory-intensive and random read bandwidth, random read input/output per second, random write bandwidth and random write input/output per second for HDD workloads

    Assessment of vehicular transportation quality via smartphones

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    Despite alternative transportation opportunities, road transportation still occupies an important part of our daily lives. Ever-advancing technological developments set high expectations of vehicular comfort and safety. Thus, it is necessary to develop systems that are able to detect and classify events related to the comfort and safety of vehicular transportation. Researchers have proposed several systems to monitor the quality of vehicular transportation. However, most of these systems are only capable of monitoring either road conditions or driving behaviors. Also, many of them are not easily applicable in real life because of special installation requirements and maintenance procedures with highly specialized and expensive hardware components. In the current paper we focus on the monitoring of vehicular transportation quality, including both road conditions and driving behaviors. Our proposed system, unlike existing solutions, is an inexpensive simple yet efficient solution that is able to monitor both driving and road quality. It is realized on Android smartphones and is highly portable and easy to maintain. Our tests show that our system is able to recognize and categorize driving events with an accuracy of 91%

    Driver Behavior Analysis for Safe Driving: A Survey

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    Driver drowsiness and distraction are two main reasons for traffic accidents and the related financial losses. Therefore, researchers have been working for more than a decade on designing driver inattention monitoring systems. As a result, several detection techniques for the detection of both drowsiness and distraction have been proposed in the literature. Some of these techniques were successfully adopted and implemented by the leading car companies. This paper discusses and provides a comprehensive insight into the well-established techniques for driver inattention monitoring and introduces the use of most recent and futuristic solutions exploiting mobile technologies such as smartphones and wearable devices. Then, a proposal is made for the active of such systems into car-to-car communication to support vehicular ad hoc network's (VANET's) primary aim of safe driving. We call this approach the dissemination of driver behavior via C2C communication. Throughout this paper, the most remarkable studies of the last five years were examined thoroughly in order to reveal the recent driver monitoring techniques and demonstrate the basic pros and cons. In addition, the studies were categorized into two groups: driver drowsiness and distraction. Then, research on the driver drowsiness was further divided into two main subgroups based on the exploitation of either visual features or nonvisual features. A comprehensive compilation, including used features, classification methods, accuracy rates, system parameters, and environmental details, was represented as tables to highlight the (dis) advantages and/or limitations of the aforementioned categories. A similar approach was also taken for the methods used for the detection of driver distraction

    Towards Secure E-Voting Using Ethereum Blockchain

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    There is no doubt that the revolutionary concept of the blockchain, which is the underlying technology behind the famous cryptocurrency Bitcoin and its successors, is triggering the start of a new era in the Internet and the online services. While most people focus only at cryptocurrencies; in fact, many administrative operations, fintech procedures, and everyday services that can only be done offline and/or in person, can now safely be moved to the Internet as online services. What makes it a powerful tool for digitalizing everyday services is the introduction of smart contracts, as in the Ethereum platform. Smart contracts are meaningful pieces of codes, to be integrated in the blockchain and executed as scheduled in every step of blockchain updates. E-voting on the other hand, is another trending, yet critical, topic related to the online services. The blockchain with the smart contracts, emerges as a good candidate to use in developments of safer, cheaper, more secure, more transparent, and easier-to-use e-voting systems. Ethereum and its network is one of the most suitable ones, due to its consistency, widespread use, and provision of smart contracts logic. An e-voting system must be secure, as it should not allow duplicated votes and be fully transparent, while protecting the privacy of the attendees. In this work, we have implemented and tested a sample e-voting application as a smart contract for the Ethereum network using the Ethereum wallets and the Solidity language. Android platform is also considered to allow voting for people who do not have an Ethereum wallet. After an election is held, eventually, the Ethereum blockchain will hold the records of ballots and votes. Users can submit their votes via an Android device or directly from their Ethereum wallets, and these transaction requests are handled with the consensus of every single Ethereum node. This consensus creates a transparent environment for e-voting. In addition to a broad discussion about reliability and efficiency of the blockchain-based e-voting systems, our application and its test results are presented in this paper, too

    External validation of the T.O.HO. score and derivation of the modified T.O.HO. score for predicting stone-free status after flexible ureteroscopy in ureteral and renal stones

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    Objective: The T.O.HO. scoring system was developed to predict stone-free status after flexible ureterenoscopy (fURS) lithotripsy applied for ureter and renal stones. This study aimed to perform the external validation of the T.O.HO. score in the Turkish population and propose a modification for this system. Material methods: Patients who underwent fURS for kidney and ureteral stones between January 2017 and January 2020 were retrospectively analysed. The patient and stone characteristics and perioperative findings were noted. The T.O.HO. score was externally validated and compared with the STONE score. Stone-free parameters were evaluated with the multivariate analysis. Based on the results of this analysis, the T.O.HO. score was modified and internally validated. Results: A total of 621 patients were included in the study. The stone-free rate was determined as 79.8% (496/621) after fURS. The regression analysis showed that stone area had better predictive power than stone diameter (P =.025). Lower pole (reference), middle pole [odds ratio (OR) = 0.492 P =.016] and middle ureteral (OR = 0.227, P =.024) localisations, stone density (OR = 1.001, P <.001), and stone volume (OR = 1.008, P <.001) were determined as independent predictive markers for stone-free status. Based on the effect size of the stone surface area in the nomogram, stone volume was divided into five categories, at 1-point intervals. The AUC values of the T.O.HO., STONE, and modified T.O.HO. score in predicting stone-free status were calculated as 0.758, 0.634, and 0.821, respectively. The modified T.O.HO. created by adding stone volume was statistically significantly superior to the original version (ROC curve comparison, P <.001). Conclusion: The T.O.HO. score effectively predicted stone-free status after fURS. However, modified T.O.HO. SS showed the best predictive performance compared with original T.O.HO. SS

    A nationwide survey on the impact of COVID-19 pandemic on minimal invasive surgery in urology practice

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    Objective: The beta-coronavirus (COVID-19) pandemic has changed the clinical approach of 93% of urologists worldwide, and this situation has affected the use of laparoscopic and robot-assisted laparoscopic methods, which are known as minimally invasive surgery (MIS). This study aimed to determine the effects of the COVID-19 pandemic on MIS in urology practice at national level. Design, setting and participants: A total of 234 urologists in Turkey participated in an online survey between August 22 and September 23, 2020. Outcome measurements and statistical analysis: Descriptive statistical analyses were conducted to determine the participants’ demographic characteristics and responses to multiple-choice questions. Results: While 54% of urologists stated that they were concerned about the possibility that the patients planned to undergo MIS were carrying COVID-19 or false-negative for the virus, 51% considered that open surgery was safer than MIS in this regard. The pandemic led to a difference in the preferences of 40% of the urologists in relation to open or MIS methods, and during the pandemic, 39% of the urologists always directed their patients to open surgery. It was determined that during the pandemic, there was a statistical decrease in the intensity and weekly application of MIS methods among all surgical procedures compared to the pre-pandemic (P <.001 and P <.001, respectively). MIS was preferred for oncological operations by 97.3% of the urologists during the pandemic, with the most performed operation being radical nephrectomy (90.7%). Among oncological operations, radical prostatectomy was most frequently postponed. To prevent virus transmission during MIS, 44% of the urologists reported that they always used an additional evacuation system and 52% took additional precautions. There were a total of 27 healthcare workers who took part in MIS and tested positive for COVID-19 after the operation. Conclusions: Although the number of operations has decreased during the ongoing pandemic, MIS is a method that can be preferred due to its limited contamination and mortality in urology practice provided that safety measures are taken and guideline recommendations are followed

    Tranexamic acid in total knee replacement Which protocol? Which application form? :A prospective randomised study

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    The aim of this study was to prospectively compare different doses and application forms of TXA for the reduction of blood loss in patients with TKR and evaluate the results. This study included patients who were unresponsive to conservative management and 168 patients met the inclusion criteria. They were divided into 5 groups randomly as, Control (1), Local (2), Systemic+short infusion (3), Systemic+long infusion (4) and Systemic+oral (5). When compared with the Control group, blood loss was significantly reduced in Groups 2, 3 and 4 (p=0.001,0.001,0.003) but when the TXA protocols were compared, no statistically significant difference was observed. It was determined that in comparison with the control group, all the protocols for the use of TXA reduced blood loss and the need for transfusion without any increase in the complication rate. TXA is considered to be more effective and reliable than systemic use
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