İstanbul Üniversitesi Açık Erişim Sistemi
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Sinema Filmlerinde Kurt İmgesi - Modern Dünya Halklarının Kültüründe 'Kurt' İmgesinin Rolü ve İşlevi
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Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
No full textNeurodevelopmental disorders (NDDs) have broad heterogeneity both clinically and genetically. Inborn errors of metabolism can be one of the reasons of neurodevelopmental disruption causing specific NDDs. Although there is tremendous advance in molecular identification via next-generation sequencing (NGS), there are still many unsolved patients with NDD. Rea- nalysis of NGS data with different pipelines can at least partially accomplish this challenge. Herein, we report clinic and genetic components of an adult sib-pair with an undiagnosed NDD condition, which has been solved through reanalysis of whole-exome sequencing (WES). Parallel analysis of SNP-based genotyping and WES was performed to focus on variants only in loci with positive logarithm of the odds scores. WES data was analyzed through three different pipelines with two distinct bed files. Reanalysis of WES data led us to detect a homozygous FOLR1 variant (ENST00000393676.5:c.610C > T, p.(Arg204Ter), rs952165627) in the affected sib-pair. Surprisingly, the variant could not be detected in the first analysis as the variant region is not included in the first bed file which may frequently be used. Biochemical tests of CSF have confirmed the genetic analysis, CSF folic acid levels were detected low in sib-pair, and intravenous folinic acid treatment improved the disease course for the first 6 months of follow-up even at late diagnosis age. Although combined analysis of SNP-based genotyping and WES is a powerful tool to reveal the genetic components of heterogeneous diseases, reanalysis of genome data still should be considered in unsolved patients. Also, biochemical screening helps us to decipher undiagnosed NDD that may be a treatable neurometabolic condition
Assessment of the content and quality of YouTube videos related zygomatic implants: A content–quality analysis
No full textIntroduction: This study aimed to evaluate the content and quality of YouTube videos of zygomatic implants. Methods: According to Google Trends (2021), “zygomatic implant” was the most preferred keyword related to the topic. Therefore, in this study “zygomatic implant” was used as a keyword for the video search. Demographic characteristics such as the number of views, likes/dislikes, comments, video duration, number of days after upload, uploaders, and target audiences of the videos were evaluated. To evaluate the accuracy and content quality of videos (available from YouTube), the video information and quality index (VIQI) and global quality scale (GQS) were used. Statistical analyses were performed using the Kruskal–Wallis test, Mann–Whitney U test, chi-square test, Fisher's exact chi-square test, Yates continuity correction, and Spearman correlation analysis (p 0.001). Conversely, information flow, accuracy of information, video quality and precision, and total VIQI scores were statistically different between the groups. The moderate-content group had a higher GQS score than the low-content group (p < 0.001). The videos were mainly uploaded (40%) from hospitals and universities. Most videos were targeted toward professionals (46.75%). Low-content videos had higher ratings than the moderate- and high-content videos. Conclusions: Most YouTube videos on zygomatic implants showed low-content quality. This implies that YouTube is not a reliable source of information on zygomatic implants. Dentists, prosthodontists, and oral and maxillofacial surgeons should be aware of the content of video-sharing platforms and take responsibility for enriching video content
Erken Evre Glottik Larenks Kanserinde Karotis Koruyucu Dinamik Çok Alan ve Volümetrik Ark Planlarının Dozimetrik Karşılaştırılması
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A COMPARISON OF THE TURKISH AND GERMAN CINEMA INDUSTRIES THROUGH THE ANALYSIS OF THE FILM ADAPTATIONS “ÖTEKİ TARAF” & “THE HIDDEN FACE”
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