7 research outputs found


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    The human is a social being and survives as the part of a group in every field of life from the birth. Group is a community consisting of one or more individuals who interact with each other in order to accomplish a certain goal. The groups are created formally and informally within the organization at different times and for different goals. Those groups have the negative and positive influences on the organization structure and function. In this work, the group concept in the organizations is studied and the influence of group behaviors within the organizations is discussed conceptually

    An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

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    There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. RESULTS: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. CONCLUSIONS: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups

    Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease

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    While somatic variants of TRAF7 (Tumor necrosis factor receptor-associated factor 7) underlie anterior skull-base meningiomas, here we report the inherited mutations of TRAF7 that cause congenital heart defects. We show that TRAF7 mutants operate in a dominant manner, inhibiting protein function via heterodimerization with wild-type protein. Further, the shared genetics of the two disparate pathologies can be traced to the common origin of forebrain meninges and cardiac outflow tract from the TRAF7-expressing neural crest. Somatic and inherited mutations disrupt TRAF7-IFT57 interactions leading to cilia degradation. TRAF7-mutant meningioma primary cultures lack cilia, and TRAF7 knockdown causes cardiac, craniofacial, and ciliary defects in Xenopus and zebrafish, suggesting a mechanistic convergence for TRAF7-driven meningiomas and developmental heart defects

    Push and Pull Factors of Why Medical Students Want to Leave TĂĽrkiye: A Countrywide Multicenter Study

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    Phenomenon: Physician immigration from other countries is increasing as developed countries continue to be desirable destinations for physicians; however, the determinants of Turkish physicians’ migration decisions are still unclear. Despite its wide coverage in the media and among physicians in Türkiye, and being the subject of much debate, there is insufficient data to justify this attention. With this study, we aimed to investigate the tendency of senior medical students in Türkiye to pursue their professional careers abroad and its related factors. Approach: This cross-sectional study involved 9881 senior medical students from 39 different medical schools in Türkiye in 2022. Besides participants’ migration decision, we evaluated the push and pull factors related to working, social environment and lifestyle in Türkiye and abroad, medical school education inadequacy, and personal insufficiencies, as well as the socioeconomic variables that may affect the decision to migrate abroad. The analyses were carried out with a participation rate of at least 50%. Findings: Of the medical students, 70.7% had emigration intentions. Approximately 60% of those want to stay abroad permanently, and 61.5% of them took initiatives such as learning a foreign language abroad (54.5%) and taking relevant exams (18.9%). Those who wanted to work in the field of Research & Development were 1.37 (95% CI: 1.22–1.54) times more likely to emigrate. The push factor that was related to emigration intention was the “working conditions in the country” (OR: 1.89, 95% CI: 1.56–2.28) whereas the “social environment/lifestyle abroad” was the mere pull factor for the tendency of emigration (OR: 1.73, 95% CI: 1.45–2.06). In addition, the quality problem in medical schools also had a significant impact on students’ decisions (OR: 2.20, 95% CI: 1.83–2.65). Insights: Although the percentage of those who want to emigrate “definitely” was at the same level as in the other developing countries, the tendency to migrate “permanently” was higher in Türkiye. Improving working conditions in the country and increasing the quality of medical faculties seem vital in preventing the migration of physicians