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Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations:a single-center single-arm retrospective study

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World Journal of Pediatrics 2024年第5期20卷 517-524页

作者： Ying-Yan Wang Yun-Qing Zhou Li-Juan Luo Cui-Jin Wang Nan Shen Hao Li Ji-Wen Wang Department of Neurology Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina Department of Infectious Diseases Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina Clinical Research Ward Clinical Research CenterShanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina

Background This retrospective study assessed the efficacy and safety of ketogenic diet therapies in children with epilepsy caused by SLC2A1 genetic mutations and glucose transporter type 1 deficiency *** Pediatric patients with epilepsy symptoms admitted to our medical center between January 2017 and October 2021 were included if they presented with an SLC2A1 genetic mutation on whole-exome *** analyzed the patients’convulsions and treatment with antiepileptic *** patients were followed up at different time periods after ketogenic diet *** Six patients with SLC2A1 mutations were included in this *** patients had seizures of different types and frequencies,and they took antiepileptic drugs to relieve their *** were then treated with a ketogenic diet for at least four *** analyzed epilepsy control rates at 1,2,3,6,and 12 months after ketogenic diet *** patients were seizure-free within a month of receiving the diet *** patients were followed up for six months,three were followed up for 12 months after the treatment,and there was no recurrence of epilepsy during this *** antiepileptic drug withdrawal,none of the patients experienced seizure relapse when receiving ketogenic diet treatment *** severe adverse events occurred during the *** Ketogenic diet therapy is very effective and safe for the treatment of epilepsy caused by SLC2A1 ***,patients with glucose transporter type 1 deficiency syndrome caused by SLC2A1 mutations should begin ketogenic diet treatment as soon as possible.

关键词： Epilepsy glucose transporter type 1 Ketogenic diet SLC2A1

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Arginine ADP-ribosyltransferase 1 Regulates Glycolysis in Colorectal Cancer via the PI3K/AKT/HIF1αPathway

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Current Medical Science 2022年第4期42卷 733-741页

作者： Wen-bo LONG Xia PU Yi TANG Ming LI Yun LIU Qin SHE Ya-lan WANG Qin-xi GUO Department of Pathology Affiliated Hospital of Southwest Medical UniversityLuzhou 646099China Clinical Skills Center of Affiliated Hospital of Southwest Medical University Luzhou 646099China Department of Pathology School of Basic MedicineChongqing Medical UniversityChongqing 400016China

Objective:Arginine ADP-ribosyltransferase 1(ART1)is involved in the regulation of a diverse array of pathophysiological processes,including proliferation,invasion,apoptosis,autophagy and angiogenesis of colorectal cancer(CRC)***,how ART1 regulates glycolysis in CRC remains ***:To elucidate the role of ART1 in glycolysis in CRC,we assessed the protein level of ART1,hypoxia-inducible factor 1α(HIF1α),and glucose transporter type 1(GLUT1)in 61 CRC tumor tissue specimens obtained from patients with different 2-[^(18)F]fluoro-2-deoxy-D-glucose(^(18)F-FDG)uptake as analyzed by PET/CT before *** adenocarcinoma CT26 cells with ART1 knockdown and overexpression were established,respectively,and the molecular mechanism underlying the effect of ART1 on glycolysis in CRC was determined both in vivo and in ***:The expression of ART1 and GLUT1 was significantly associated with FDG uptake(P=0.037 and P=0.022,respectively)in CRC ***,the expression of hexokinase 2(HK2)and lactate dehydrogenase(LDH)was upregulated in ART1-overexpressed CT26 cells,but was downregulated in ART1-knockdown CT26 *** volume and weight of subcutaneously transplanted tumors were markedly increased in the ART1-overexpressed BALB/c mice group and decreased in the ART1-knockdown *** CT26 cells,the overexpression of ART1 promoted the expression levels of HK2 and LDH,and knockdown of ART1 suppressed them in the CT26 *** both normal and hypoxic conditions,ART1 expression was associated with the protein level of phospho-serine/threonine kinase(p-AKT),HIF1α,and GLUT1 but not with that of AKT in CT26 cells and subcutaneous transplanted ***:ART1 plays a crucial role in the elevation of glucose consumption in CT26 cells and may regulate GLUT1-dependent glycolysis in CRC via the PI3K/AKT/HIF1αpathway.

关键词： arginine ADP-ribosyltransferases 1 colorectal cancer Warburg effect hypoxiainducible factor glucose transporter type 1

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Value of glucose transport protein 1 expression in detecting lymph node metastasis in patients with colorectal cancer

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World Journal of Clinical Cases 2024年第5期12卷 931-941页

作者： Hongsik Kim Song-Yi Choi Tae-Young Heo Kyeong-Rok Kim Jisun Lee Min Young Yoo Taek-Gu Lee Joung-Ho Han Department of Internal Medicine Chungbuk National University HospitalCheongju 28644South Korea Department of Pathology Chungnam National University College of MedicineDaejeon 35015South Korea Information and Statistics Chungbuk National UniversityCheongju 28644South Korea Department of Radiology College of MedicineChungbuk National UniversityChungbuk National University HospitalCheongju-si 28644South Korea Department of Nuclear Medicine School of MedicineInha UniversityIncheon 22332South Korea Department of Surgery Chungbuk National UniversityCollege of MedicineCheongju-si 28644South Korea Department of Internal Medicen Chungbuk National UniversityCollege of medicineCheongju-si 28644South Korea

BACKGROUND There are limited data on the use of glucose transport protein 1(GLUT-1)expre-ssion as a biomarker for predicting lymph node metastasis in patients with colorectal ***-1 and GLUT-3,hexokinase(HK)-II,and hypoxia-induced factor(HIF)-1 expressions may be useful biomarkers for detecting primary tumors and lymph node metastasis when combined with fluorodeoxyglucose(FDG)uptake on positron emission tomography/computed tomography(PET/CT).AIM To evaluate GLUT-1,GLUT-3,HK-II,and HIF-1 expressions as biomarkers for detecting primary tumors and lymph node metastasis with 18F-FDG-PET/*** This retrospective study included 169 patients with colorectal cancer who underwent colectomy and preoperative 18F-FDG-PET/CT at Chungbuk National University Hospital between January 2009 and May *** tissue cores from the central and peripheral areas of the tumors were obtained and were examined by a dedicated pathologist,and the expressions of GLUT-1,GLUT-3,HK-II,and HIF-1 were determined using immunohisto-chemical *** analyzed the correlations among their expressions,various clinicopathological factors,and the maximum standardized uptake value(SUVmax)of PET/*** GLUT-1 was found at the center or periphery of the tumors in 109(64.5%)of the 169 ***-1 positivity was significantly correlated with the SUVmax of the primary tumor and lymph nodes,regardless of the biopsy site(tumor center,P1 and P=0.012;tumor periphery,P=0.030 and P=0.010,respectively).GLUT-1 positivity and negativity were associated with higher and lower sensitivities of PET/CT,respectively,for the detection of lymph node metastasis,regardless of the biopsy ***3,HK-II,and HIF-1 expressions were not significantly correlated with the SUVmax of the primary tumor and lymph *** GLUT-1 expression was significantly correlated with the SUVmax of 18F-FDG-PET/CT for primary tumors and lymph *** should consider GLUT-1 expression in preoperative endoscop

关键词： 18F-FDG-PET-CT Biomarker Colorectal neoplasms glucose transporter type 1 Lymph node

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