Mikobakteriyel hastalıklara mendel duyarlılığı hastalarının genetik ve klinik profili; tek merkez deneyimi

Objective: Mendelian susceptibility to mycobacterial disease (MSMD) is a subgroup of primary immunodeficiencies which develops with the Bacille Calmette–Guérin (BCG) vaccine or non-tuberculous mycobacterial infections. The clinical symptoms have a broad spectrum, from localized to disseminated infections. Materials and Methods: Herein, we performed whole-exome sequencing (WES) on 13 patients with MSMD phenotype. All variants were confirmed by Sanger sequencing. The mean age was 8.41 years (min 3 – max 14 years), and the mean age of symptom onset was 4.6 years in our cohort. Results: We found previously identified IFNGR1 (n=1), IFNGR2 (n=1), TYK2 (n=1), IL12RB1 (n=1), and CYBB (n=1) gene variants in nine patients. Our patients mostly suffered from lymphadenitis (61.5%), osteomyelitis (38%), and miliary tuberculosis (31%). All patients except one had had the BCG vaccination. Two patients developed BCGitis after vaccination. Three patients suffered from disseminated BCG infection (BCGosis). Conclusion: Our findings show the importance of molecular diagnosis in patients with severe infections as an approach for understanding the genetic basis of infectious diseases and deciding on treatment options. The deficiency of IFN-mediated immunity genes plays a crucial role in the pathogenesis of MSMD and must be considered in pediatric patients with BCGitis.Amaç: Mikobakteriyel hastalığa (MSMD) Mendel duyarlılığı, Bacille Calmette-Guérin (BCG) aşısı veya tüberküloz dışı mikobakteriyel enfeksiyonlarla gelişen primer immün yetmezliklerin bir alt grubudur. Klinik semptomlar, lokalize enfeksiyondan yayılmış enfeksiyona kadar geniş bir spektruma sahiptir. Gereç ve Yöntem: Bu çalışmada; MSMD fenotipli 13 hastada tüm ekzom dizileme (WES) yaptık. Tüm varyantlar Sanger dizileme ile doğrulandı. Bizim kohortumuzda ortalama yaş 8.41 yıl (en az 3 – en fazla 14 yıl) ve ortalama semptom başlangıç yaşı 4.6 idi. Bulgular: Dokuz hastada; IFNGR1 (n=2), IFNGR2 (n=1), TYK2 (n=1), IL12RB1 (n=1) ve CYBB (n=1) gen varyantları bulduk. Hastalarımızda en çok lenfadenit (%61,5), osteomiyelit (%38) ve miliyer tüberküloz (%31) mevcuttu. Biri hariç tüm hastalara BCG aşısı yapıldı. İki hastada aşılamadan sonra BCGitis gelişti. Üç hasta, yayılmış BCG enfeksiyonundan (BCGosis) muzdaripti. Sonuç: Bulgularımız, enfeksiyon hastalıklarının genetik temelinin anlaşılmasında ve tedavi seçeneklerine karar verilmesinde bir yaklaşım olarak ağır enfeksiyonlu hastalarda moleküler tanının önemini göstermektedir. IFN aracılı bağışıklık genlerinin eksikliği, MSMD’nin patogenezinde çok önemli bir rol oynar ve BCGitis’li pediatrik hastalarda düşünülmelidir

Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis

Objectİive: In this study, we sought to describe the clinical, laboratory, and genetic characteristics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis and appropriate treatment options for pediatric hemophagocytic lymphohistiocytosis patients. Materials and Methods: Medical records of 9 patients diagnosed with primary hemophagocytic lymphohistiocytosis between November 2013 and December 2019 were analyzed retrospectively. Clinical, genetic, and laboratory characteristics, family histories, initial complaints, physical examination findings, age at diagnosis, treatment choices, and clinical follow-up of all patients were investigated. Results: The mean age at diagnosis was 11 months (range: 1.5 months to 17 years). Genetic analysis was performed in all patients, and a disease-related mutation was detected in 8 (89%) of them. Among clinical features, 6 (66%) patients had fever, 5 (56%) had splenomegaly, 4 (44%) had lymphadenopathy, 4 (44%) had skin rash, and 4 (44%) had neurological findings. Hemophagocytosis was observed in the bone marrow samples of 6 (66%) patients. Disease remission was achieved in 7 (78%) patients. Hematopoietic stem cell transplantation was performed in 7 (78%) patients. Conclusion: Hemophagocytic lymphohistiocytosis may present with different clinical symptoms that can cause a significant diagnostic delay. The only curative treatment option in primary hemophagocytic lymphohistiocytosis patients is hematopoietic stem cell transplantation. The chemotherapy should be started as early as possible, in order to achieve a disease remission. Patients should be referred to the appropriate bone marrow transplant center for hematopoietic stem cell transplantation as soon as they reach the disease remission

A genomic snapshot of demographic and cultural dynamism in Upper Mesopotamia during the Neolithic Transition

Upper Mesopotamia played a key role in the Neolithic Transition in Southwest Asia through marked innovations in symbolism, technology, and foodways. We present thirteen ancient genomes (c.8500-7500 calBCE) from Pre-Pottery Neolithic Çayönü in the Tigris basin together with bioarchaeological and material culture data. Our findings reveal that Çayönü was a genetically diverse population, carrying a mixed ancestry from western and eastern Fertile Crescent, and that the community received immigrants. Our results further suggest that the community was organised along biological family lines. We document bodily interventions such as head-shaping and cauterization among the individuals examined, reflecting Çayönü's cultural ingenuity. Finally, we identify Upper Mesopotamia as the likely source of eastern gene flow into Neolithic Anatolia, in line with material culture evidence. We hypothesise that Upper Mesopotamia's cultural dynamism during the Neolithic Transition was the product not only of its fertile lands but also of its interregional demographic connections

Mimar önderliğindeki yapım - tasarım sistemlerinin imkanları ve engelleri.

From past to today, technological developments have resulted in new systems in parallel with digital age. Innovations have been started to be replaced with the traditional solutions. Standardizations have also started to be renewed in accordance with the high technology and complexity of the projects. Under these circumstances, design and construction activities have been separated in the construction industry. As a result, alternative project delivery systems have been developed and selecting the right delivery system has gained importance depending upon the complexity of the projects The main objective of this study was to propose a model that supports architect’s leadership in design-build systems throughout an international airport project as a case study. Thus, construction industry will gain awareness for the organization structures in which architectural groups lead the other disciplines to achieve success in design-build systems considering time cost quality triangle. In this study, organization charts including project construction process and factors affecting design and construction activities were investigated. The matrix relationship in production level of the organization charts among the project disciplines has been analyzed. According to the evaluation of models reflecting the existing status, alternative models supporting architect’s leadership are proposed.M.S. - Master of Scienc

İkili sınıflandırma için çok amaçlı evrimsel öznitelik alt kümesi seçimi algoritması.

This thesis investigates the performance of multiobjective feature subset selection (FSS) algorithms combined with the state-of-the-art machine learning techniques for binary classification problem. Recent studies try to improve the accuracy of classification by including all of the features in the dataset, neglecting to determine the best performing subset of features. However, for some problems, the number of features may reach thousands, which will cause too much computation power to be consumed during the feature evaluation and classification phases, also possibly reducing the accuracy of the results. Therefore, selecting the minimum number of features while preserving the accuracy of the results at a high level becomes an important issue for achieving fast and accurate binary classification. The multiobjective algorithms implemented in this thesis include two phases, selecting feature subsets and applying supervised/unsupervised machine learning techniques to these selected subsets. For the FSS part of the algorithms, first a brute-force approach is implemented. Since exhaustively investigating all of the feature subsets is unfeasible when the number of features is larger than 20, secondly, a greedy algorithm implemented to find good-enough feature subsets. Finally, in order to select the most appropriate feature subsets intelligently, a genetic algorithm is proposed at the FSS part of the algorithms. Crossover and mutation operators are used to improve a population of individuals (each representing a selected feature subset) and obtain (near-)optimal solutions through generations. At the second phase of the algorithms, the performance of the selected feature subsets is evaluated by using five different machine learning techniques: Logistic Regression, Support Vector Machines, Extreme Learning Machine, K-means, and Affinity Propagation. The best performing multiobjective evolutionary algorithm is selected after comprehensive experiments and compared with the state-of-the-art algorithms in literature; Particle Swarm Optimization, Greedy Search, Tabu Search, and Scatter Search. 11 different datasets, mostly obtained from the well-known machine learning data repository of University of California UCI Machine Learning Repository, are used for the performance evaluation of the implemented algorithms. Experimental results show that the classification accuracy increases significantly with the most suitable subset of features and also execution time reduces greatly after applying proposed algorithm on the datasets.M.S. - Master of Scienc

A Comprehensive Survey on Recent Metaheuristics for Feature Selection

Feature selection has become an indispensable machine learning process for data preprocessing due to the ever-increasing sizes in actual data. There have been many solution methods proposed for feature selection since the 1970s. For the last two decades, we have witnessed the superiority of metaheuristic feature selection algorithms, and tens of new ones are being proposed every year. This survey focuses on the most outstanding recent metaheuristic feature selection algorithms of the last two decades in terms of their performance in exploration/exploitation operators, selection methods, transfer functions, fitness value evaluation, and parameter setting techniques. Current challenges of the metaheuristic feature selection algorithms and possible future research topics are examined and brought to the attention of the researchers as well. Keywords: Feature selection, Survey, Metaheuristic algorithms, Machine learning, Classification

Does social influence affect covid-19 vaccination intention among the unvaccinated ?

Conformist social influence is a double-edged sword when it comes to vaccine promotion. On the one hand, social influence may increase vaccine uptake by reassuring the hesitant about the safety and effectiveness of the vaccine; on the other, people may forgo the cost of vaccination when the majority is already vaccinated - giving rise to a public goods dilemma. Here, we examine whether available information on the percentage of double-vaccinated people affects COVID-19 vaccination intention among unvaccinated people in Turkey. In an online experiment, we divided participants (n = 1013) into low, intermediate, and high social influence conditions, reflecting the government's vaccine promotion messages. We found that social influence did not predict COVID-19 vaccination intention, but psychological reactance and collectivism did. People with higher reactance (intolerance of others telling one what to do and being sceptical of consensus views) had lower vaccination intention, whilst people with higher collectivism (how much a person considers group benefits over individual success) had higher vaccination intention. Our findings suggest that advertising the percentage of double-vaccinated people is not sufficient to trigger a cascade of others getting themselves vaccinated. Diverse promotion strategies reflecting the heterogeneity of individual attitudes could be more effective.Scopus - Affiliation ID: 60105072Temmu

Amelogenesis Imperfecta: Rehabilitation and Brainstorming on the Treatment Outcome after the First Year

Amelogenesis imperfecta (AI) affects enamel on primary and permanent dentition. This hereditary disorder is characterized by loss of enamel, poor esthetics, and hypersensitivity. Functional and cosmetic rehabilitation is challenging with variety of treatment options. This report presents the treatment of an AI patient using conventional fixed dentures and discusses issues related to posttreatment complications and prosthetic treatment outcome after 1 year of follow-up. A 19-year-old male AI patient with impaired self-esteem presented with hypersensitive, discolored, and mutilated teeth. Clinical examination revealed compromised occlusion and anterior open-bite. After hygiene maintenance full-coverage porcelain-fused-to-metal fixed restorations were indicated and applied. At the end of the treatment acceptable functional and esthetic results could be achieved. However, nearly a year after treatment a gingival inflammation in the esthetic zone complicated the outcome. Insufficient oral hygiene was to be blamed. Tooth sensitivity present from early childhood in these patients may prevent oral hygiene from becoming a habit. The relaxation due to relieve of hypersensitivity after treatment makes oral hygiene learning difficult. Continuous oral hygiene maintenance motivation may be crucial for the success of the treatment of AI patients. Treatment of AI patients should be carefully planned and an acceptable risk-benefit balance should be established

Retrospective study on the 7.5-year survival of resin-bonded dental prostheses in single missing second premolar cases

Purpose: The purpose of this study is to report retrospectively the clinical results of cast metal slot-retained resin-bonded fixed dental prostheses (RBFDPs) used in the restoration of single missing second premolar teeth, as this kind of prostheses provides acceptable clinical outcomes in a minimally invasive and esthetic treatment for the average patient requiring cheaper and faster treatment alternative for a single missing posterior tooth. However, the data present in the literature are scarce. Materials and Methods: Clinical follow-up was reported up to 7.5 years in nine different cast metal slot-retained RBFDPs patients of both genders between 21 and 49 years of age. Routine clinical controls were performed 6 and 12 months after treatment, followed by regular intervals every year afterward. The Kaplan–Meier survival estimation method was used to determine the overall and functional survival rates and times of the RBFDPs at the end of the observation period. Results: At the end of the follow-up, all of the RBFDPs were still functional with a mean follow-up of 6.7 years. The Kaplan–Meier estimation for the overall survival was calculated as 89% for up to 7.5 years with one failure due to debonding. The functional survival rate was 100% with the lowest and highest observation periods being 5.8 and 7.5 years, respectively. Conclusions: Within the limitations of this retrospective clinical study, it seems that the design and cementation regimen used for the RBFDPs presented can guarantee clinical success in the restoration of single missing second premolar teeth

Middle-school students’ journey from stage to science: science on stage

This study investigated whether the Science on Stage, a theatre and drama project, taught middle-school students more about the lives and discoveries of great scientists and whether it helped them develop positive views and attitudes towards the science course and scientists. This 8-month study employed an embedded design. The sample consisted of 20 eight graders. Quantitative data were collected using a Scientists Success Test, a Scale of Attitude towards the Science Course, and a Questionnaire of Views on Scientists, and then, were analysed using a one-sample t-test and Wilcoxon signed ranks test. Qualitative data were collected through interviews with a semi-structured interview form developed by the researchers, and then, were analysed using inductive content analysis. The Science on Stage helped participants learn more about the lives and discoveries of great scientists but had no impact on their attitudes towards the science course and scientists. It contributed not only to the history of science but also to academic and personal development. It helped participants recognise scientific facts and develop social and academic skills and made them more curious and motivated about science and art. The study discussed the results with reference to the literature and made suggestions for future research. © 2021 Informa UK Limited, trading as Taylor & Francis Group