İstanbul Üniversitesi Açık Erişim Sistemi
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New Coumarin Derivative with Potential Antioxidant Activity: Synthesis, DNA Binding and In Silico Studies (Docking, MD, ADMET)
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Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
No full text© 2022 Elsevier Inc.Background: Metaphyseal chondrodysplasias are a heterogeneous group of diseases characterized by short and bowed long bones and metaphyseal abnormality. The aim of this study is to investigate the genetic etiology and prognostic findings in patients with metaphyseal dysplasia. Methods: Twenty-four Turkish patients were included in this study and 13 of them were followed for 2–21 years. COL10A1, RMRP sequencing and whole exome sequencing were performed. Results: Results: Seven heterozygous pathogenic variants in COL10A1 were detected in 17 patients with Schmid type metaphyseal chondrodysplasia(MCDS). The phenotype was more severe in patients with heterozygous missense variants (one in signal peptide domain at the N-terminus of the protein, the other, class-1 group mutation at NC1 domain) compared to the patients with truncating variants. Short stature and coxa vara deformity appeared after 3 and 5 years of age, respectively, while large femoral head resolved after the age of 13 years in MCDS group. Interestingly, one patient with severe phenotype also had a biallelic missense variant in NC1 domain of COL10A1. Three patients with biallelic mutations in RMRP had prenatal onset short stature with short limb, and typical findings of cartilage hair hypoplasia (CHH). While immunodeficiency or recurrent infections were not observed, resistant congenital anemia was detected in one. Biallelic mutation in LBR was described in a patient with prenatal onset short stature, short and curved limb and metaphyseal abnormalities. Unlike previously reported patients, this patient had ectodermal findings, similar to CHH. A biallelic COL2A1 mutation was also found in the patient with lower limb deformities and metaphyseal involvement without vertebral and epiphyseal changes. Conclusion: Long-term clinical characteristics are presented in a metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. We also point out that the domains where mutations on COL10A1 take place are important in the genotype-phenotype relationship
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.
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Effects of Tourists’ Street Food Experience and Food Neophobia on Their Post-Travel Behaviors: The Roles of Destination Image and Corona-Phobia
No full text© 2022 Taylor & Francis Group, LLC.Food-neophobia is referred to as the reluctance to try unknown foods. This paper aims to demonstrate the relationships between street food experience, food destination image, food-neophobia, corona-phobia, and post-travel behaviors (e.g., intention to revisit and word-of-mouth) of international tourists visiting Istanbul, Türkiye. Based on the 210 valid questionnaires, Smart-PLS was applied to empirically test a structural equation model using PLS-Henseler’s multi-group analysis. The results demonstrated relationships between the effects of street food experience and food neophobia on tourists’ post-travel behaviors in terms of mediating effect of destination image and the moderating effect of corona-phobia. The result also showcased the moderated mediation role of corona-phobia in mediating role of food destination image between street food experience, revisit intention, and word-of-mouth. Despite existing generic tourists’ street food studies and the popularity of COVID-19-related studies in the destination-marketing context, there have been limited attempts to explore the consequences (e.g., tourists’ post-travel behavior) of the tourists’ street food experience with the possible psychological relationships (i.e., food destination image and food-neophobia) during the pandemic. Therefore, this is one of the first attempts to troubleshoot to fill this omitted gap. Several practical implications with suggestions for further studies were also discussed
