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        Deduction and exploration of the evolution and function of vertebrate GFPT family

        Wei Si-ang,Xu Ran,Ji Yu-yao,Ding Zhi-wen,Ding Zhi-wen 한국유전학회 2022 Genes & Genomics Vol.44 No.2

        Background: Glutamine-fructose-6-phosphate aminotransferase (GFPT) is a key factor in the hexosamine metabolism pathway. It regulates the downstream factor O-GlcNAc to change cell function and plays an important role in the metabolism and immune process of tissues and organs. However, the evolutionary relationship of GFPT family proteins in vertebrates has not been elucidated. Objective: To deduce and explore the evolution and function of vertebrate GFPT family. Methods: 18 GFPT sequences were obtained from Homo sapiens (H. sapiens), Trachypithecus francoisi (T. francoisi), Mus musculus (M. musculus), Rattus norvegicus (R. norvegicus), Gallus gallus (G. gallus), Zootoca vivipara (Z. vivipara), Xenopus tropicalis (X. tropicalis), Danio rerio (D. rerio), Rhincodon typus (R. typus), Plasmodium relictum from National Center for Biotechnology Information (NCBI). The physical and chemical characteristics and molecular evolution of GFPT family proteins and nucleic acid sequences were analyzed by ClustalX2, Gene Doc, MEGA-X, SMART, Datamonkey, R etc. RESULTS: Based on the neighbor-joining (NJ) phylogenetic tree and evolution fingerprints, GFPT family members of vertebrates can be divided into two groups: the GFPT1 group and the GFPT2 group. Seven positive selection sites were identified by IFEL and integrated methods mixed effects model of evolution (MEME) and fixed effects likelihood (REL). Finally, we predicted 28 phosphorylation sites and 18 ubiquitousness sites in the human GFPT1 sequence, 10 phosphorylation sites, and five ubiquitousness sites in GFPT2. Gene ontology (GO) analyzes the protein molecules and KEGG signaling pathways of vertebrates interacting with GFPT family proteins. Conclusions: Our work confirmed that higher animals GFPT family may have differentiated GFPT1 and GFPT2, which meets their own functional needs. This knowledge answers the question what the origin and evolution of GFPT family in vertebrates and provided the basis for disease treatment and function research of GFPT protein.

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        Early Recognition of Pediatric Strokes in the Emergency Department: Epidemiology, Clinical Presentation, and Factors Impeding Stroke Diagnosis in Children

        Si Qi Tan(Si Qi Tan),Wen Qi Cher(Wen Qi Cher),Shu-Ling Chong(Shu-Ling Chong),Angelina Su Yin Ang(Angelina Su Yin Ang ),Sashikumar Ganapathy(Sashikumar Ganapathy ),Derrick Wei Shih Chan(Derrick Wei Shi 대한소아신경학회 2022 대한소아신경학회지 Vol.31 No.1

        Purpose: Strokes are challenging to diagnose in pediatric emergency departments (EDs) as level of suspicion is low and atypical presentations are common. We analyzed clinical features, epidemiology and factors of delayed identification in arterial ischemic strokes (AIS) and hemorrhagic strokes (HS). Methods: Single-center retrospective cohort study of children aged between 29 days and 18 years old diagnosed with stroke between July 2016 to June 2021. Results: Among 36 children, 11 (30.5%) had AIS, 25 (69.4%) had HS. Median age for AIS was 9 years (interquartile range [IQR], 2 to 9) and HS 9 years (IQR, 1 to 11.5) (P=0.715). Focal neurological deficit was seen in 72.7% of AIS and 20% of HS (P=0.006). Only 18.2% of AIS and 52.0% of HS presented within 6 hours of symptoms. Median time from symptom onset to ED presentation was 24 hours (IQR, 12 to 28) for AIS and 7 hours (IQR, 1.8 to 48) for HS (P=0.595). Most (85.6%) arrived by own transport. Median time from presentation to neuroimaging was 7 hours (IQR, 0.9 to 7) for AIS and 4.8 (IQR, 1.3 to 16.8) hours for HS (P=0.376). Eleven patients, 9/25 (36.0%) HS and 2/11 (18.2%) AIS, did not have stroke as differential diagnosis at ED (P=0.714). Common initial diagnoses were viral illness or headaches. On univariate analysis, age <1 (odds ratio [OR], 17.5; 95% confidence interval [CI], 1.2 to 250.4; P=0.035) and absence of focal neurological deficit (OR, 13.091; 95% CI, 1.5 to 117.9; P=0.022) were significant factors for delayed identification. Conclusion: Index of suspicion for pediatric strokes among caregivers and clinicians should be increased. Public awareness campaigns are recommended.

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