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As the utilization of electrical energy has continued to rise, energy efficiency and management has become an increasingly significant issue on the global stage. In this context, the objective of this study was to identify the most efficient and cost-effective production methods by examining the potential for upgrading a single-phase induction motor from the IE1 to the IE2 efficiency class, in accordance with the standards established by IEC 60034–30-1, while minimizing the cost differential. The lamination of the existing motor (IE1) was used in this study, and the impact of the main and auxiliary windings and capacitors on the performance of the motor was analyzed. The reduction of losses was achieved through the optimization of winding, and a finite element method (FEM) was employed in the modeling process. Furthermore, parametric analyses were conducted to identify the optimal capacitors for the selected parameters, resulting in enhanced efficiency. The final results of the parametric analyses were validated by comparing them with the prototype motor produced.

Background: Hearing loss is a widespread condition throughout the world. It may affect patients from newborns to the elderly. There are too many reasons for hearing loss, including congenital hearing loss, virus infections, age-related situations, and traumatic situations, which may be related to the immune-mediated system. Fifty percent of hearing loss is related to genetic mutations and defects; genetic causes are highly heterogeneous, so the analysis of new variants are important for diagnosis. We aimed to describe the importance of detected gene variations by using targeted gene panels in the Next-Generation-Sequencing (NGS) platform. Methods: Eighty-one hearing loss targeted genes were investigated using Illumina NextSeq550 technology in 100 participants with hearing loss between 2017 and 2022 in our Genetic Diseases Evaluation Center. Results: Targeted genes were performed on 100 patients with hearing loss diagnosis. The total number of detected variants was 77. Forty-seven cases have likely pathogenic/pathogenic variants. Thirty of them have uncertain clinical significance variants, and from the detected variants, 8 are novel. Conclusion: In this research, we highlighted that earlier detection of hearing loss using molecular genetic methods may help us understand the etiology and orient for a better prognosis. Results detected by using the NGS platform can assist and improve the diagnosis. In this study, the diagnostic rate with targeted genes was detected as 35.29%. It has an important role in clinical practice as the recommendation of cochlear implants. Clarifying the genotype and phenotype correlation helps us figure out the etiology of hearing loss and also the worth of genetic counseling in hereditary hearing loss.

Acute pancreatitis (AP) is a clinical condition that arises acutely in the pancreas through various inflammatory pathways due to multiple causes. Turkish Society of Gastroenterology Pancreas Working Group developed comprehensive guidance statements regarding the management of AP that include its epidemiology, etiology, clinical presentation, diagnostic criteria, disease severity, treatment, prognosis, local and systemic complications. The statements were developed through literature review, deliberation, and consensus opinion. These statements were ultimately used to develop a conceptual framework for the multidisciplinary management of AP.

Abstract Some individuals who go to fitness centers for various purposes perform resistance exercise (RE) alone, while others engage in combined exercise (CE) by including cardio exercises along with RE. Studying the effects of these two different training methods on left ventricular (LV) systolic and diastolic parameters and left atrial mechanical function is an important step toward understanding the effects of different types of exercise on cardiac function. This knowledge has significant implications for public health, as it can inform the development of targeted and effective exercise programs that prioritize cardiovascular health and reduce the risk of adverse outcomes. Therefore, the primary aim of this study is to comprehensively investigate the LV systolic and diastolic parameters of athletes who engage in RE and CE using ECHO, to contribute to the growing body of literature on the cardiovascular effects of different types of exercise. Forty-two amateur athletes aged between 17 and 52 were included in our study. The participants consisted of the RE (n = 26) group who did only resistance exercise during the weekly exercise period, and the CE group (n = 16) who also did cardio exercise with resistance exercises. After determining sports age (year), weekly exercise frequency (day), and training volume (min) in addition to demographic information of RE and CE groups, left ventricular systolic and diastolic parameters and left atrial functions were determined by ECHO. Findings from our study revealed that parameters including the left ventricular end-diastolic diameter (LVEDD) (p = .008), left ventricular end-diastolic volume (LVEDV) (p = .020), stroke volume index (SV-I) (p = .048), conduit volume (CV-I) (p = .001), and aortic strain (AS) (p = .017) were notably higher in the RE group compared to the CE group. Also left atrial active emptying volüme (LAAEV) of CE was higher than the RE group (p = .031). In conclusion, the cardiac parameters of the RE group showed more athlete’s heart characteristics than the CE group. These results may help to optimize the cardiovascular benefits of exercise routines while minimizing the potential risks associated with improper training.

Objective: Our aim was to present the results of endoscopic retrograde cholangiopancreatography (ERCP) after living donor liver transplantation (LDLT) between February 2015 and June 2021. Methods: Clinical data included LDLT indications, time to perform ERCP after LDLT, number of ERCP procedures, indications for ERCP, and all treatment outcomes, including ERCP, percutaneous, and surgical interventions. We compared the obtained data with our previous study published by our team in 2018, which included 446 patients who underwent ERCP for biliary complications after LDLT between 2005 and 2015. Results: We performed ERCP in 283 of 1506 patients with LDLT who underwent duct-to-duct anastomosis during transplantation and then developed biliary complications. Our endoscopic success rates were 60.9% and 71.0% in the previous and present studies, respectively. Conclusions: Our findings suggest that the success rate of endoscopic treatment of biliary complications in patients with LDLT increases in correlation with the increasing experience of clinicians treating these patients.

Araştırmanın amacı öğrencileri ilkokula devam eden öğrenci velilerinin okuldan ve öğretmenden beklentilerini incelemektir. Araştırma nitel araştırma yöntemlerine uygun olarak doküman analizi modeli ile yürütülmüştür. Araştırmanın veri kaynağını 1999-2021 yılları arasında “Velilerin okuldan ve öğretmenlerden beklentileri” yönünde Google Akademik, Ulakbim, ve Dergipark’ta yayınlanmış 50 makaleden oluşturmaktadır. Araştırma konusuyla alakalı materyallere ve bilgilere erişilerek alan taraması gerçekleştirilmiştir. Araştırmada velilerin okuldan beklentileri, velilerin öğretmenlerden beklentileri ve okul aile işbirliği içerikli dokümanlar seçilerek incelenmiş ve analiz edilmiştir. Velilerin okuldan beklentilerine yönelik olarak işbirliği ve etkili iletişim, akademik başarı, okulun öğrenciler için sunmuş olduğu imkânlar, okulda yapılan sosyal faaliyetler, öğrencileri hayata hazırlama kural ve davranışları öğrenme, milli değerlerine ve dini inanışlarına uygun eğitim verilmesi yönünde veli beklentilerinin olduğu görülmektedir. Velilerin öğretmenlerden beklentileri ayrımcılık yapmama, öğrencilere rehberlik yapma, doğru örneklik gösterme, öğretmenlerin kendini geliştirmesi ve etkili öğretim yöntemlerini kullanma yönünde beklentileri olduğu görülmektedir. Eğitimin en temel paydaşı olan veliler okul ile etkili bir işbirliği beklentisi içerisinde olduklarını yüksek oranda dile getirmektedir. Akademik çalışma bulguları velilerle etkili işbirliği noktasında ciddi eksiklikler olduğunu göstermektedir.

Background/Aims: Pancreatic steatosis (PS) is a pathology associated with metabolic syndrome (MS), endocrin and exocrine disfunctions of the pancreas, and fatty liver. The data on the frequency of PS are very limited. We aimed to evaluate the frequency of PS detected by transabdominal ultrasonography (TAU) in gastroenterology clinics located in different geographical regions of Turkey and the factors associated with it. Materials and Methods: Volunteers were evaluated by TAU for PS and hepatosteatosis (HS), and its degree. Pancreatic stiffness was evaluated by ultrasonographic shear wave elastography (SWE). All demographic, physical, and biochemical parametres were measured. Results: A total of 1700 volunteers from 14 centers throughout Turkey were included in the study. Mean age was 48.03 ± 20.86 years (56.9% female). Prevalance of PS was detected in 68.9%. In the PS group, age, body mass index (BMI), waist circumference, systolic blood pressure, fasting blood glucose (FBG), lipid levels, insulin resistance, diabetes mellitus, hypertension, MS frequency, and pancreatic SWE score were increasing, and fecal elastase level was decreasing in correlation with the degree of PS. The frequency of HS was 55.5%. Hepatosteatosis [odds ratio (OR): 9.472], increased age (OR: 1.02), and BMI (OR: 1.089) were independent risk factors for the occurrence of PS. Lean-PS rate was 11.8%. The lean-PS group was predominantly female and younger than non-lean PS. Also it has lower blood pressure, FBG, liver enzymes, lipid levels, and HS rates. Conclusion: The frequency of PS was found 68.9% in Turkey. Its relationship was determined with age, BMI, HS, MS (and its components), pancreatic stiffness, and fecal elastase level. Keywords: Elastography, exocrine pancreatic insufficiency, lean steatosis, pancreas stiffness, pancreatic steatosis, ultrasonography

Abstract Respiratory health is a critical determinant of athletic performance, and the utilization of restorative strategies, such as strategic napping, may offer a competitive edge to athletes. This study investigates the effects of nap duration on the respiratory function of young elite athletes who have achieved top rankings national competitions. Participants engage in three test sessions with varying nap durations: no nap (N0), a 25-minute nap (N25), and a 45-minute nap (N45), with a minimum 72-hour interval between sessions. Respiratory parameters including Forced Vital Capacity (FVC), Forced Expiratory Volume in one second (FEV1), FEV1/FVC ratio, Peak Expiratory Flow rate (PEF), Forced Expiratory Flow at 25–75% of FVC (FEF25-75%), and Forced Expiratory Time (FET) are assessed. Results reveal a significant enhancement in PEF values following a 45-minute nap (N45) compared to the no-nap control (N0) [F1 − 11=7.356, p =.004, ηp 2 = 0.401, (95% CI for difference: -1.56 to − 0.056)], indicating a potential positive influence of napping on maximum expiratory flow rate and, consequently, athletes’ respiratory performance. While no significant changes are observed in other respiratory parameters across different nap durations, these findings underscore the potential benefits of strategic napping in optimizing respiratory health in young elite athletes.

The aim of the study is to present a multi-leveled comparative evaluation approach for structural characteristics of historic masonry monuments so that the consciousness in their authentic designs is comprehended, and the optimum structural performance is clarified. A case study approach is preferred by the examination of the Bedesten (15th‒16th centuries) located in Bergama, İzmir, Turkey. The structure is documented through tacheometric techniques. The construction techniques of structural elements are mapped. These documented qualities are compared with similar period and/or function structures in order to rank the frequency of construction details. The geometrical factor of safety state is defined theoretically for domes and arches. Finite element macro model of the Bedesten is generated in ANSYS software and overall structural analysis of the structure is made to evaluate the safety level of historic building by the limit states through self-weight analysis. The presented study shows that the rare structural characteristics can both contribute to structural safety and cause vulnerability. Therefore, total consciousness in structural design cannot be stated for the studied Bedesten, but the structural designs that are often preferred in the monuments built at the same period in the proximity to each other have low vulnerability, yielding to conscious preferences.

Abstract There are several overlapping clinical practice guidelines in acute pancreatitis (AP), however, none of them contains suggestions on patient discharge. The Hungarian Pancreatic Study Group (HPSG) has recently developed a laboratory data and symptom-based discharge protocol which needs to be validated. (1) A survey was conducted involving all members of the International Association of Pancreatology (IAP) to understand the characteristics of international discharge protocols. (2) We investigated the safety and effectiveness of the HPSG-discharge protocol. According to our international survey, 87.5% (49/56) of the centres had no discharge protocol. Patients discharged based on protocols have a significantly shorter median length of hospitalization (LOH) (7 (5;10) days vs. 8 (5;12) days) p

Compression therapy is an important method for treating venous diseases such as venous edema and venous hypertension. Regular compression therapy's main objective is to diminish leg swelling by controlling blood flow and avoiding the recurrence of reversible blood flow. Compression socks are often recommended as therapeutic garments. In this study, a seamed compression sock was developed using fabric with an interlock knit structure. Three other sock samples were produced by using circular knitting MERZ CC4 model machine for comparison. The results demonstrate that the developed sock meets all the requirements of compression class I. Statistical analysis reveals that fabric parameters, particularly fabric weight, effectively explain compression pressure intensity according to the values of coefficient of determination, coefficient of correlation (r), and means sum of square errors (MSE). In this work, Laplace's Law and a few preexisting mathematical models were used to calculate the compression pressure of both standard compression socks and socks with seams, with results that were essentially similar. The points of data are tightly clustered around line of regression, showing that there is little variation in the compression pressure for socks with seams.

Photo-transferred thermoluminescence (PTTL) is defined as the transfer of electrons from deep traps into shallow traps via optical stimulation. The importance of PTTL is that it allows for a second measurement of dose assessments for accuracy in cases such as an erroneous dose evaluation. In this study, the PTTL signal of TLD-100 was investigated in detail for a wide dose range from mGy to Gy. The investigation of PTTL signals in the order of Gy is the main innovation of this study. Based on the results of the low dose measurement (mGy), the PTTL dose-response curve has a significant sublinear characteristic in the order of mGy for the total area condition. Additionally, PTTL signals could not be distinguished from the background signal up to 5mGy. Therefore, the PTTL method can be used by taking into account the sublinear function obtained after 5mGy for the total area. On the other hand, it can be applied to TLD-100 between 0.5mGy and 50mGy using ROI. Based on the high dose measurement results (Gy), the PTTL method can be applied up to 10Gy regardless of the total area and ROI. Therefore, the dose reassessment can be performed with PTTL signal in high dose measurements (Gy) such as in the radiotherapy field. Furthermore, in future studies, heating the dosimeters during UV exposure, predose effect, or subjecting the dosimeters to fast cooling following the annealing process may provide important outputs to obtaining higher PTTL intensity, thus, it may allow measuring lower radiation doses.

Abstract Aim This study aimed to compare the left ventricular (LV) systolic and diastolic parameters and left atrial (LA) mechanical functions of individuals engaging in recreational sports and resistance exercises on a weekly basis. Methods A total of 43 male amateur athletes were included in this study, of which 24 performed resistance exercises (REs) (29.70 ± 8.74 year, weight: 81.70 ± 12.64 kg, height: 176.05 ± 7.73 cm, BMI: 27.64 ± 4.97 kg/m2), and 19 participated in recreational football training and were included in the recreational sports group (31.73 ± 6.82 year, weight: 86.00 ± 18.52 kg, height: 178.62 ± 4.95 cm, BMI: 25.55 ± 3.42 kg/m2). The exercises were standardized according to the weekly exercise frequency and volume. After recording the participants’ demographic information, the LV systolic and diastolic parameters and LA mechanical functions were measured using echocardiography (ECHO) and Tissue Doppler Imaging. Results Significant differences were observed in various cardiac parameters between the recreational sports group (REG) and resistance exercise Group (RSG). Specifically, the left ventricular (LV) diastolic diameter, LV end diastolic volume index (LVEDVi), and stroke volume index were notably higher in the REG compared to the RSG (t = 2.804, p = .010, effect size (ES) = 2.10; t = 3.174, p = .003, ES = 0.98; t = 3.36, p = .002, ES = 1.02, respectively). Notably, the RSG exhibited higher values for LV mass index (LVMi) and isovolumic relaxation time (IVRT) than the REG (t = 2.843, p = .007, ES = 0.87; t = 2.517, p = .016, ES = 0.76) in terms of LV systolic and diastolic parameters. Regarding left atrial (LA) mechanics, the REG demonstrated increased LA total emptying volume index, LA maximum volume index, LA volume before systole measured at the onset of the p-wave index, and conduit volume index compared to RSG (t = 2.419, p = .020, ES = 0.75; t = 2.669, p = .011, ES = 0.81; t = 2.111, p = .041, ES = 0.64; t = 2.757, p = .009, ES = 0.84, respectively). Conclusion Our study revealed significant variations in LV and LA functions between REG and RSG. Our data suggest that REs led to substantial cardiac remodeling, altering myocardial structure and function. In contrast, the effect of recreational exercise on cardiac adaptation was less pronounced than that of resistance exercise. Consequently, we propose that individuals engaging in recreational exercise should consider modalities that impose higher cardiovascular demand for more effective cardiac conditioning.

Objective:In our study, we aimed to investigate the long-term effects of the acute phase parameters of C-reactive protein, procalcitonin, D-dimer, lymphocyte, thrombocyte and ferritin on the respiratory function parameters in patients hospitalized due to Coronavirus disease-2019 (COVID-19) pneumonia.Method:The present study was carried out with the retrospective evaluation of patients with COVID-19 pneumonia, who were hospitalized in Medipol University Hospital between March 2020 and June 2021, and who were 6 months to 1 year after discharge. The relationship between pulmonary function test results and acute period laboratory findings of 52 patients who applied for control purposes 6 months after discharge was examined.Results:Diffusing capacity for carbon monoxide (DLCO) (pred) value in 26 patients (50%), total lung capacity (TLC) value in 9 patients (17.3%), and residual volume (RV) (pred) value in 10 patients (19.2%) were below 80%. As a result of multiple linear regression analysis in our study, the maximum D-dimer level and maximum procalcitonin level were determined by DLCO (% pred) (adjusted R2 =0.645; p

This study aimed to define the copy numbers of SMN1 and SMN2 genes and the diagnosis rate and carrier frequency of spinal muscular atrophy (SMA) in the Thrace region of Turkey. In this study, the frequency of deletions in exons 7 and 8 in the SMN1 gene and SMN2 copy numbers were investigated. A total of 133 cases with the preliminary diagnosis of SMA and 113 cases with the suspicion of being an SMA carrier from independent families were analyzed by multiplex ligation-dependent probe amplification method for SMN1 and SMN2 gene copy numbers. SMN1 homozygous deletions were detected in 34 patients (25.5%) of 133 cases with the suspicion of SMA. Cases diagnosed with SMA type I was 41.17% (14/34), 29.4% (10/34) with type II, 26.4% (9/34) with type III, and 2.94% (1/34) with type IV. The SMA carrier rate was 46.01% in 113 cases. In 34 SMA cases, SMN2 copy numbers were: two copies – 28 cases (82.3%), three copies – 6 cases (17.6%). SMN2 homozygous deletions were detected in 15% (17/113) of carrier analysis cases. The consanguinity rate of the parents was 23.5% in SMA diagnosed cases. In this study, we had a 25.5% of SMA diagnosis rate and 46% SMA carrier frequency. The current study also showed the relatively low consanguinity rate of the Thrace region, with 23.5% according to the east of Turkey.

Pulmonary embolism (PE) is an important cause of sudden death and is difficult to diagnose. Therefore unnecessary radiological investigations are often resorted to. Although some inflammatory parameters in the hemogram have been found to play a role in the diagnosis of PE, many parameters have not been adequately investigated. We aimed to evaluate potential inflammatory parameters in hemogram in the diagnosis of PE and to determine the parameters with the highest diagnostic value. This single-center, retrospective study was performed by evaluating 114 cases with suspected PE admitted to the emergency department between January 2017 and June 2022. Among 114 cases, 62 cases with a definitive diagnosis of PE by pulmonary computed tomography angiography served as the PE group and 52 cases without PE served as the control group. Admission hemogram parameters of both groups were recorded. Potential chronic diseases and acute conditions affecting hemogram were excluded from the study . In the multivariate model; immature granulocyte (IG), neutrophil/lymphocyte ratio (NLR), monocyte % and platelet large cell ratio (P-LCR) were found to be significantly and independently effective in differentiating cases with and without PE ( P ˂.05). Our findings suggest that high IG, high NLR, high monocyte %, and low P-LCR values have diagnostic value in cases with suspected PE. However the usability of IGs in the diagnosis of PE is a new finding. Hemogram is cheap, easily accessible, and potential inflammatory biomarkers in hemograms may increase physicians’ awareness in the diagnosis of PE.

Background: Idiopathic generalized epilepsy is the most common group of epilepsy disorders in children and adolescents. Various types of genetic abnormality were identified among the hereditary factors that explain epilepsy. Aims: To determine the variations in the etiopathogenesis, treatment protocol planning, and prognosis of idiopathic generalized epilepsy using the next-generation sequencing method. Study Design: A cross-sectional study. Methods: This study included 32 patients with idiopathic generalized epilepsy. Genomic DNA was obtained from peripheral venous blood samples taken from the patients. A total of 18 genes encoding ion channel subunits that are involved in monogenic disorders and are associated with idiopathic generalized epilepsy were included. The targeted custom next-generation sequencing panel was designed to cover all coding exons and all exon/intron splice site regions of 18 genes. Results: We detected 9 (28%) variations, including 1 likely pathogenic (a variant in the SCN1A gene) and 8 of unknown clinical significance (2 in the CLCN2 genes, GABBR2, SCN1B, SLC2A1, SLC4A10 genes, and 2 in the TBC1D24 gene). Conclusion: Study results should be supported by functional advanced studies, with increased existing knowledge in the relevant variations.

A novel coronavirus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), emerged in the sprawling capital of Central China’s Hubei province Wuhan in 2019. Since late 2019, SARS-CoV-2 has been responsible for a global pandemic that has resulted in 405,961,201 confirmed cases of infection and 5,789,567 deaths as of February 11, 2022, according to the World Health Organization (WHO). Here we report the development of an inactivated SARS-CoV-2 vaccine candidate and show that its efficacy and safety in preclinical studies warrant further clinical evaluation. Efficiency and possible side effects of vaccine candidate on different doses were evaluated using histopathology, K18 hACE2 transgenic mice challenge, T-cell response, and serum neutralization test in Balb/c mice. All pilot production and propagation experiments of SARS-CoV-2 were performed in the Level 3 Negative Pressure Biosafety Facility (BSL3/ABSL-3) according to COVID-19 interim guidance of WHO. All analytical studies have shown that the quality control parameters of the vaccine candidate meet the requirements for inactivated viral vaccines according to European Pharmacopeia. The vaccine candidate (KOCAK-19) has been authorized by the Turkish Medicines and Medical Devices Agency and has now entered phase 2 clinical development (NCT04838080). Abbreviations: SARS-CoV-2: Severe Acute Respiratory Syndrome Coronavirus 2.; MERS-CoV: Middle East Respiratory Syndrome Coronavirus.; qRT-PCR: Quantitative Real-Time Polymerase Chain Reaction.; TEM: Transmissible Electron Microscopy.; SEC: Size Exclusion.; AEX: Anion exchange.; BPL: β-Propiolactone.; CPE: Cytopathic Effect.; TCID50: 50% Tissue Culture Infectious Dose.; hACE-2: Human Angiotensin-Converting Enzyme 2.; mRNA: Messenger RNA.; RBD: Receptor binding domain.; Nab: Neutralizing antibody.; MOI: Multiply of Infection. HIGHLIGHTS A new inactivated vaccine candidate to protect against COVID −19 SARS-CoV-2 inactive vaccine development in disposable wave bioreactor systems with microcarrier technologies and analytical analysis Preclinical toxicity and immunity trials for COVID-19 inactive vaccine candidate in Balb/c mice, K18 transgenic mice and, ferrets.

Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the degeneration of motor neurons, muscle weakness, and atrophy that leads to infant's death. The duplication of exon 7/8 in the SMN2 gene reduces the clinical severity of disease, and it is defined as modifying effect. In this study, we aim to investigate the expression of modifying genes related to the prognosis of SMA like PLS3, PFN2, ZPR1, CORO1C, GTF2H2, NRN1, SERF1A, NCALD, NAIP, and TIA1. Methods Seventeen patients, who came to Trakya University, Faculty of Medicine, Medical Genetics Department, with a preliminary diagnosis of SMA disease, and eight healthy controls were included in this study after multiplex ligation-dependent probe amplification analysis. Gene expression levels were determined by real-time reverse transcription polymerase chain reaction and delta–delta CT method by the isolation of RNA from peripheral blood of patients and controls. Results SERF1A and NAIP genes compared between A group and B + C + D groups, and A group of healthy controls, showed statistically significant differences (p = 0.037, p = 0.001). Discussion PLS3, NAIP, and NRN1 gene expressions related to SMA disease have been reported before in the literature. In our study, the expression levels of SERF1A, GTF2H2, NCALD, ZPR1, TIA1, PFN2, and CORO1C genes have been studied for the first time in SMA patients.

Background Hypotonia occurs as a result of neurological dysfunction in the brain, brainstem, spinal cord, motor neurons, anterior horn cells, peripheral nerves, and muscles. Although the genotype–phenotype correlation can be established in 15 to 30% of patients, it is difficult to obtain a correlation in most cases. Aims This study was aimed to investigate the genetic etiology in cases of peripheral hypotonia that could not be diagnosed using conventional methods. Methods A total of 18 pediatric patients with peripheral hypotonia were included. They were referred to our genetic disorders diagnosis center from the Pediatric Neurology Department with a prediagnosis of hypotonia. A custom designed multigene panel, including ACTA1, CCDC78, DYNC1H1, GARS, RYR1, COL6A1, COL6A2, COL6A3, FKRP, FKTN, IGHMBP2, LMNA, LAMA2, LARGE1, MTM1, NEM, POMGnT1, POMT1, POMT2, and SEPN1, was used for genetic analysis using next-generation sequencing (NGS). Results In our study, we found 13 variants including pathogenic (two variants in LAMA2) and likely pathogenic variants (three variants in RYR1 and POMGnT1) and variants of uncertain clinical significance (eight variants in RYR1, COL6A3, COL6A2, POMGnT1 and POMT1) in 11 (61%) out of 18 patients. In one of our patients, a homozygous, likely pathogenic c.1649G > A, p.(Ser550Asn) variant was defined in the POMGnT1 gene which was associated with a muscle–eye–brain disease phenotype. Conclusion The contribution of an in-house designed gene panel in the etiology of peripheral hypotonia with a clinical diagnosis was 5.5%. An important contribution with the clinical diagnosis can be made using the targeted multigene panels in larger samples.

Abstract Background Peripheral arterial disease (PAD) causes significant morbidity today. Atherosclerosis is evident in the pathophysiological process in most patients, so PAD has similar risk factors as coronary artery disease. Platelet-Hemoglobin ratio (PHR) has been proven to predict mortality in atherosclerotic heart disease. We aimed to determine the relationship between PHR and below-knee amputation. Methods The study is a single-center retrospective study. Platelet count/hemoglobin amount formula was used for PHR. Only PAD patients with below-knee critical extremity ischemia and unsuitable for revascularization were included in the study. Results 235 patients were included in the study retrospectively. The mean age was 65.7 ± 9.9 years and 175(74.5%) of them were male. In the amputated group, white blood cell, neutrophil, platelet, creatinine, glucose, and PHR were higher (p = .031, p = .045, p = .011, p = .048 p = .018, p = .004, respectively). Only hemoglobin values were lower (p = .003). Multivariable regression analysis showed; age, albumin and PHR were determined as independent risk factors for amputation (Age; OR (95%CI): (1.094(1.040–1.152), p = .001) (Albumin; OR (95% CI): 1.950(1.623–1.799), p = .001) (PHR; OR (95% CI): 1.872(1.246–2.812), p = .003). Receiver operating characteristics analysis performed to determine the optimal cut-off value of PHR for amputation, the optimal value was found 2.08 (65.8% sensitivity, 67.5% specificity, p

Objective: The 18q terminal deletion with inverted duplication is an extremely rare abnormality, with only three confirmed cases in Europe to date. Here, we report, for the first time, a case of de novo 18q inv-dup-del in a Turkish pregnant woman. Case report: A 30-year-old pregnant woman was referred for genetic analysis at her 25th gestational week due to foetal diaphragmatic hernia and rocker bottom feet. Cytogenetic analysis of the parents revealed a karyotype of 46,XX,inv(18) (p11.3q21.3) of the mother and a normal karyotype of the father. The foetal karyotype was defined as 46,XX,rec(18)del(18q)inv(18) (p11.3q21.3)mat. Conclusion: To our knowledge, this is the first report of a prenatal diagnosis. Genetic counselling issues for this family, particularly affected individuals, include an increased likelihood of reduced fertility and a risk of recurrence of parental inversion equal to 1/2 in surviving offspring.

Objective A significant number of genetic variations have been identified in chromosome 22, using molecular genetic techniques. Various genomic disorders on chromosome 22, including cat's eye syndrome caused by extra copies of the proximal region of the 22q chromosome, are now well-defined. Our aim in the study was to show phenotypic variability associated with rearrangements of the 22q chromosomal region. Methods We focused our study on clinical aspects of these disorders, including genetic testing, genotype-phenotype correlation, and potential treatments. A total of 998 patients were referred for genetic analysis (Karyotyping, MLPA, array-CGH) during January 2015 to February 2020 because of intellectual deficiency, behavior issues, and/or multiple congenital abnormalities in several genetics departments. Informed consent was obtained from all the patients and/or their parents. Results 22q11.21 or 22q13.33 microdeletions and 22q11.22-q11.23 microduplication were identified in 31 patients out of referrals. The 22q aberrations were detected in 31/998 patients, giving a prevalence of 3.1%. In this study, 18 patients with 22q11.2 (LCR22A-H) deletion, three patients with 22q13.31 deletion, 9 patients with 22q11.2 duplication and one patient with 22q13.31 duplication were identified. We report on the clinical and molecular characterization of 31 individuals with distal deletions and duplications of chromosome 22q. Conclusions The current study demonstrated in the largest postnatal case series reporting the whole spectrum of atypical phenotypic and genotypic variations at 22q. We believe that when all the phenotypic differences are taken into account, various anomalies including developmental delay and intellectual disability might be considered as an indication to search for aberrations of 22q along with congenital heart diseases.

The prenatal diagnosis of congenital heart disease (CHD) is important because of mortality risk. The onset of CHD varies, and depending on the malformation type, the risk of aneuploidy is changed. To identify possible genetic alterations in CHD, G-banding, chromosomal microarray or if needed DNA mutation analysis and direct sequence analysis should be planned. In present study, to identify genetic alterations, cell culture, karyotype analysis, and single nucleotide polymorphism, array analyses were conducted on a total 950 samples. Interventional prenatal genetic examination was performed on 23 (2, 4%, 23/950) fetal CHD cases. Chromosomal abnormalities were detected in 5 out of 23 cases (21, 7%). Detected chromosomal abnormalities were 10q23.2 deletion, trisomy 18, 8p22.3-p23.2 deletion, 8q21.3-q24.3 duplication, 11q24.2q24.5 (9 Mb) deletion, and 8p22p12 (16.8 Mb) deletion. Our study highlights the importance of genetic testing in CHD.

Retrospektif (geriye dönük) dozimetri, doz ölçümünün planlanmadığı durumlarda doz hesabı için kaza dozimetresinin önemli araçlarından biridir. Kaza dozimetrisi, radyasyon kazası sonucu dışarıdan/ içten maruz kalan insanların radyasyon dozunun çeşitli dozimetri yöntemleri ile değerlendirilmesidir. Kaza bölgesindeki herhangi bir obje doğal dozimetre olarak değerlendirilebilmektedir. Şimdiye kadar seramik ya da porselen ürünleri, yapı malzemeleri, elektronik bileşenler (IC parçaları, sim kart, transistörler), saat camı ve telefon ekranı gibi birçok malzeme bu amaçla incelenmiştir. Bu çalışmada çevrede yaygın şekilde bulunan çeşitli porselen ve kil bazlı malzemelerin (şekerlik, kül tablası, sigorta porseleni, cila maddesi içerikli ve içeriksiz yapay diş porseleni, seramik tırnak törpüsü, namaz mühürü ve kumbara) retrospektif dozimetri amaçlı kullanımı için numune hazırlanma sürecinin TL sinyalinin üzerinde etkisi, radyasyon kazasından önce malzemenin maruz kalmış olduğu sıcaklığın (örneğin yangın) OSL sinyali üzerinde etkisi, termal sönümlenme, farklı uyarma modlarında OSL lüminesans sinyalinin değişimi gibi özellikleri de araştırılmıştır. Ayrıca bir radyasyon kazası senaryosu gerçekleştirilerek araştırılan materyaller ile TL ve OSL tekniğini kullanılarak kaza dozu hesaplanmıştır. Elde edilen sonuçlara göre incelenen bütün numunelerin radyasyon kazası durumunda retrospektif doz hesaplaması için birer dozimetrik malzeme olarak kullanılabilirliği ortaya çıkmaktadır. Kaza senaryosu sonucunda numunelerden TL yöntemi ile hesaplanan kaza doz değerlerini kaza mahallinde konulmuş TLD100’ler ile elde edilen değerlerle kıyasladığımız zaman kumbara ve yapay diş porseleni numunelerinden

3,4-dihydroxy-L-phenylalanine (L-DOPA) is one of the precursor molecules for the biosynthesis of neurotransmitters in the brain. Monitoring of L-DOPA levels as a drug or biomolecule in biological fluids is crucial for the treatment of patients suffering from Parkinson’s Disease. This study aimed to construct a cloud funnel mushroom (Clitocybe nebularis (Batsch), P. Kumm.) tissue homogenate-based biosensor for precise and sensitive detection of L-DOPA in artificial plasma and urine. For this purpose, in the fabrication of the biosensor, tissue homogenate of C. nebularis was immobilized into a carbon paste electrode by using graphite, mineral oil, gelatine and glutaraldehyde. The amperometric signals corresponding to 600 s were recorded as response current for each L-DOPA concentration. All amperometric measurements were carried out at ⁻700 mV (versus Ag|AgCl). The present biosensor successfully detected L-DOPA with a linear dynamic range at 2.5-100 µM and Limit of Detection (LOD) value as 0.76 µM, as well as standard deviation as ±0.41 µM and coefficient of variation as 0.82% (n=16). Additionally, the determination of L-DOPA spiked in artificial plasma and urine was carried out successfully. The present work would be the first study that utilized C. nebularis tissue as a biosensor component.

Objective:The aim of this study was to investigate the molecular basis of maturity-onset diabetes of the young (MODY) by targeted-gene sequencing of 20 genes related to monogenic diabetes, estimate the frequency and describe the clinical characteristics of monogenic diabetes and MODY in the Trakya Region of Turkey.Methods:A panel of 20 monogenic diabetes related genes were screened in 61 cases. Illumina NextSeq550 system was used for sequencing. Pathogenicity of the variants were assessed by bioinformatics prediction software programs and segregation analyses.Results:In 29 (47.5%) cases, 31 pathogenic/likely pathogenic variants in the GCK, ABCC8, KCNJ11, HNF1A, HNF4A genes and in 11 (18%) cases, 14 variants of uncertain significance (VUS) in the GCK, RFX6, CEL, PDX1, KCNJ11, HNF1A, G6PC2, GLIS3 and KLF11 genes were identified. There were six different pathogenic/likely pathogenic variants and six different VUS which were novel.Conclusion:This is the first study including molecular studies of twenty monogenic diabetes genes in Turkish cases in the Trakya Region. The results showed that pathogenic variants in the GCK gene are the leading cause of MODY in our population. A high frequency of novel variants (32.4%-12/37) in the current study, suggests that multiple gene analysis provides accurate genetic diagnosis in MODY.

The teaching profession is a profession that must be practiced at a professional level as predicted by new education and training technologies and human psychology. It is necessary to look at the competency areas that make the teaching profession different from other professional fields. These competence areas are: 1- It must be top-level and updatable field information. As it is known, humanity has not yet reached the knowledge of the immutable absolute truth of yesterday, today and tomorrow in the name of positive sciences. Knowledge is relative and constantly changing. 2- Teaching profession knowledge: Pedagogical formation knowledge is meant here. 3- Knowledge of general and local culture: The teacher must be a communication expert at a professional level. For this purpose, healthy communication with the student is expected. The tool to be used here is knowledge of general and local culture. Guidance to students depends on this. 4- Teachers must devote themselves to their work and develop a sense of belonging, and they must enjoy and be satisfied with this professional process. Here is this dimension; It is essentially the spirit of amateurism, aspiring to burn in order to enlighten. In this study, teachers' opinions on the current situation regarding the teaching profession were evaluated within the framework of these competencies. For this purpose, this study was designed descriptively; the "Teacher Self-Evaluation Survey" was used as a data collection tool. This survey; in the annex of the MEB Teacher Performance Evaluation and Candidate Teacher Work and Procedures Regulation (Draft) is a "Teacher Self-Evaluation Survey" and was used because it is available for public use. The survey consists of 50 items and options such as 1- Very little, 2- Little, 3- Medium, 4- Good and 5- Very good. The same survey was also used by teachers to evaluate teachers by adapting the expressions and comparisons were made. The data obtained through the survey was evaluated with arithmetic mean, standard deviation and "t" test for independent samples, and generalizations and appropriate comments were made.

Initiatives to build research universities to have world-class universities, the creator and the disseminator of scientific knowledge in knowledge-based economies, are among the most important policy reactions in higher education systems. With an increase in demands on greater accountability, transparency, and efficiency, studies investigating the excellence initiatives of different countries are growing in number. However, the literature on the Research University Project of Turkey is still in the infancy stage. We, therefore, conducted a quasi-experimental study to evaluate the effect of research university project using six-year panel data between 2015 and 2020. Results from the difference-in-differences analysis showed that the research university initiative of Turkey was not successful in differentiating research universities from non-research universities even if the research universities have not lost the quantitative superiority over non-research universities. However, the result also revealed a possible spillover effect of the initiative on non-research universities by the policy intervention that may have created institutional competition and an isomorphic science production pattern to become a research university.

Introduction:Colon polyps are proliferative and neoplastic lesions which originate from the mucosa, submucosa and protrude into the lumen. With this study, we aimed to reveal the demographic data, histopathological features, malignant potential and characteristics of patients with colonic polyp in our region by evaluating the results of 4-year colononoscopic polypectomy in our tertiary university clinic.Methods:The records of patients over 18 years of age with polyps detected during colonoscopy and removed by polypectomy between 2014 and 2019 in our hospital were retrospectively analyzed. The demographic characteristics of the patients, localization, size, number and histopathological features of the polyps, and control colonoscopy results were evaluated.Results:During this period, data of 240 polyps of 180 patients who underwent polypectomy in our clinic were analyzed. 125 (69%) of the patients were male and 55 (31%) were female. The average age of men was 59.2±14.4, and the mean age of women was 57.2±11.3. One hundred and thirty-seven people had a single polyp, 43 people had multiple polyps. When polyps are examined according to their localization; 27% was in the sigmoid colon, 24% in the rectum and 15% in the ascending colon. 82% of polyps were adenomatous polyp, 10% hyperplastic polyps, 3% adenocarcinoma, 3% inflammatory polyp. 67% of adenomatous polyps were tubular adenoma, 27% tubulovillous adenoma, 0.5% villous adenoma. 71% of adenomatous polyps had low grade dysplasia, 23% had high grade dysplasia. Adenocarcinoma was detected in 8 of the cases and intramucosal carcinoma was detected in 6% of the patients with adenomatous polyp. Colonoscopy controls were performed periodically in the cases, and recurrent polyps were detected in 52% and adenocarcinoma development in 2 patients.Conclusion:The colon polyps were observed in our study were more frequently in the 5th and 6th decades, and more frequently in men, as single or multiple neoplastic formations. It is most commonly located in the left colon and were found to be malign at a rate of 9%. Detection of cancer precursor polyps and their removal by polypectomy show the importance of colon cancer screening programs and colonoscopy.

Background/Aims Endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) has been accepted as a reliable tool in diagnosing and staging intra-abdominal tumors. In this study, we aimed to investigate the performance of EUS-FNA in the evaluation of liver masses and its impact on patient management and procedure-related complications retrospectively. Methods Data of patients who underwent EUS-FNA biopsies due to liver masses between November 2017 and July 2018 were retrieved retrospectively. Biopsies were performed using 22-G needles. The demographics, EUS-FNA results, sensitivity and specificity of the procedure, negative predictive value, positive predictive value, and specimen sufficiency rates were assessed. Results A total of 25 patients (10 females) were included in the study. The mean age was 62.73±15.2 years. The mean size of the masses was 34.50±16.04 mm. The technical success rate was 88%. During the EUS-FNA procedure, each patient had only one pass with 94.45% of aspirate sufficiency rate and 86.3% of biopsy sufficiency rate. The diagnostic accuracy rate was 86.3%. There were no complications. Conclusions For the evaluation of liver masses, EUS-FNA using a 22-G needle with even one pass had high aspiration and biopsy success rates accompanied with high diagnostic accuracy rates.

Objective: The objective of this study was to report the first case of prenatal diagnosis of the fetal 20p13 microdeletion syndrome in the literature. Case report: The mother was 31 years old and had a first trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound at 23 weeks of gestation showed mild ventriculomegaly (10.2 mm) and absent septum pellucidum. She underwent amniocentesis because of the abnormal imaging results. Karyotype analysis revealed normal results. Chromosome microarray analysis (CMA) was then performed to provide genetic analysis of the fetus and parents. CMA detected 317.902 kb deletion of 20p13 in fetus. Finally, pregnancy was terminated at 32 weeks of gestation. Conclusion: This study is the first to report the prenatal diagnosis of a 20p13 microdeletion syndrome. Our results further confirmed that genes in this region, including SOX12, NRSN2 are essential for normal fetal growth and TBC1D20 for normal brain development.

Aim:Percutaneous endoscopic gastrostomy (PEG) is a method that can be applied for nutritional purposes in patients who cannot be fed orally for various reasons but whose gastrointestinal system functions are normal. In this study, we aimed to determine the etiological causes and long-term outcomes (efficacy, safety, lifespan) of PEG in patients over 65 years of age.Methods:The data of patients aged 65 years or older who had PEG in our unit between 2015 and 2019 were analyzed retrospectively. The demographic information of the patients, the units they are being followed in, the underlying diseases, additional diseases, if any, complications-related to the procedure and the average life span were evaluated.Results:During this period, 140 patients had been PEG inserted. 51% of patients were male and the average age was 73.7±9.2 years, and the average age of women was 76±7.2 years. The most frequent cause of PEG insertion is a neurological disease. PEG insertion was the most common in cerebrovascular events, with a rate of 39%. PEG was implanted in 30% for Alzheimer’s disease, and 14% for malignant reasons. 28% of the patients lived less than a month. In total, 76% of patients died. The average life expectancy of patients who died after PEG was 221.3±330.7 days.Conclusion:PEG is the gold standard in patients with normal gastrointestinal system functions in long-term enteral nutrition. However, in patients with a life expectancy of less than 1 month, the decision to place PEG or not should be made carefully.