Background: Citrin deficiency is an autosomal recessive disorder caused by pathogenic variants in SLC25A13, presenting with various age-dependent clinical phenotypes and a broad spectrum of severity. However, few studies have examined the frequency and prevalence of citrin deficiency. We aimed to analyze the carrier frequency and disease prevalence in East Asian populations and Koreans. Methods: We comprehensively reviewed the literature and conducted a cross-sectional study to analyze genomic databases, including the Genome Aggregation Database (gnomAD), Korean Variant Archive (KOVA), and Tohoku Medical Megabank Organization (ToMMo), to identify pathogenic SLC25A13 variants in East Asian populations. A founder 3-kilobase (kb) insertion in intron 16 of SLC25A13 was investigated using whole-genome sequencing data from 681 Koreans with the Linux grep command. Results: Twenty-three pathogenic SLC25A13 variants were identified, with c.852_855del being the most common. Analysis of data from 17,501 East Asian individuals in the gnomAD and ToMMo databases revealed a carrier frequency of 1 in 62 people. Analysis of data from 7,214 individuals in the gnomAD and KOVA databases revealed a carrier frequency of 1 in 86, corresponding to an estimated disease prevalence of 1 in 29,502.c.1177+1G > A was identified as the most prevalent pathogenic variant in Koreans. The 3 kb insertion in intron 16 was detected in three out of 681 individuals, indicating a carrier frequency of 1 in 228. Conclusions The high carrier frequency of citrin deficiency in East Asians highlights the need for enhanced genetic screening and counseling, particularly in Korea, providing a valuable reference for future studies on genetic diversity and pathogenic variants in this population.

Background and Objectives: Cigarette smoking is a major risk factor for atherosclerosis.Nicotine, a crucial constituent of tobacco, contributes to atherosclerosis development and progression. However, evidence of the association between nicotine and neointima formation is limited. We aimed to evaluate whether nicotine enhances neointimal hyperplasia in the native epicardial coronary arteries of pigs after percutaneous coronary intervention (PCI) with drug-eluting stents (DES). Methods: After coronary angiography (CAG) and quantitative coronary angiography (QCA), we implanted 20 DES into 20 pigs allocated to 2 groups: no-nicotine (n=10) and nicotine (n=10) groups. Post-PCI CAG and QCA were performed immediately. Follow-up CAG, QCA, optical coherence tomography (OCT), and histopathological analyses were performed 2 months post-PCI. Results: Despite intergroup similarities in the baseline QCA findings, OCT analysis showed that the nicotine group had a smaller mean stent and lumen areas, a larger mean neointimal area, greater percent area stenosis, and higher peri-strut fibrin and inflammation scores than the no-nicotine group. In immunofluorescence analysis, the nicotine group displayed higher expression of CD68 and α-smooth muscle actin but lower CD31 expression than the no-nicotine group. Conclusions Nicotine inhibited re-endothelialization and promoted inflammation and NIH after PCI with DES in a porcine model.

Background and Objectives: Cigarette smoking is a major risk factor for atherosclerosis.Nicotine, a crucial constituent of tobacco, contributes to atherosclerosis development and progression. However, evidence of the association between nicotine and neointima formation is limited. We aimed to evaluate whether nicotine enhances neointimal hyperplasia in the native epicardial coronary arteries of pigs after percutaneous coronary intervention (PCI) with drug-eluting stents (DES). Methods: After coronary angiography (CAG) and quantitative coronary angiography (QCA), we implanted 20 DES into 20 pigs allocated to 2 groups: no-nicotine (n=10) and nicotine (n=10) groups. Post-PCI CAG and QCA were performed immediately. Follow-up CAG, QCA, optical coherence tomography (OCT), and histopathological analyses were performed 2 months post-PCI. Results: Despite intergroup similarities in the baseline QCA findings, OCT analysis showed that the nicotine group had a smaller mean stent and lumen areas, a larger mean neointimal area, greater percent area stenosis, and higher peri-strut fibrin and inflammation scores than the no-nicotine group. In immunofluorescence analysis, the nicotine group displayed higher expression of CD68 and α-smooth muscle actin but lower CD31 expression than the no-nicotine group. Conclusions Nicotine inhibited re-endothelialization and promoted inflammation and NIH after PCI with DES in a porcine model.

Background and Objectives: Cigarette smoking is a major risk factor for atherosclerosis.Nicotine, a crucial constituent of tobacco, contributes to atherosclerosis development and progression. However, evidence of the association between nicotine and neointima formation is limited. We aimed to evaluate whether nicotine enhances neointimal hyperplasia in the native epicardial coronary arteries of pigs after percutaneous coronary intervention (PCI) with drug-eluting stents (DES). Methods: After coronary angiography (CAG) and quantitative coronary angiography (QCA), we implanted 20 DES into 20 pigs allocated to 2 groups: no-nicotine (n=10) and nicotine (n=10) groups. Post-PCI CAG and QCA were performed immediately. Follow-up CAG, QCA, optical coherence tomography (OCT), and histopathological analyses were performed 2 months post-PCI. Results: Despite intergroup similarities in the baseline QCA findings, OCT analysis showed that the nicotine group had a smaller mean stent and lumen areas, a larger mean neointimal area, greater percent area stenosis, and higher peri-strut fibrin and inflammation scores than the no-nicotine group. In immunofluorescence analysis, the nicotine group displayed higher expression of CD68 and α-smooth muscle actin but lower CD31 expression than the no-nicotine group. Conclusions Nicotine inhibited re-endothelialization and promoted inflammation and NIH after PCI with DES in a porcine model.

Background and Objectives: Cigarette smoking is a major risk factor for atherosclerosis.Nicotine, a crucial constituent of tobacco, contributes to atherosclerosis development and progression. However, evidence of the association between nicotine and neointima formation is limited. We aimed to evaluate whether nicotine enhances neointimal hyperplasia in the native epicardial coronary arteries of pigs after percutaneous coronary intervention (PCI) with drug-eluting stents (DES). Methods: After coronary angiography (CAG) and quantitative coronary angiography (QCA), we implanted 20 DES into 20 pigs allocated to 2 groups: no-nicotine (n=10) and nicotine (n=10) groups. Post-PCI CAG and QCA were performed immediately. Follow-up CAG, QCA, optical coherence tomography (OCT), and histopathological analyses were performed 2 months post-PCI. Results: Despite intergroup similarities in the baseline QCA findings, OCT analysis showed that the nicotine group had a smaller mean stent and lumen areas, a larger mean neointimal area, greater percent area stenosis, and higher peri-strut fibrin and inflammation scores than the no-nicotine group. In immunofluorescence analysis, the nicotine group displayed higher expression of CD68 and α-smooth muscle actin but lower CD31 expression than the no-nicotine group. Conclusions Nicotine inhibited re-endothelialization and promoted inflammation and NIH after PCI with DES in a porcine model.

Background and Objectives: Sinonasal malignant lymphoma is rare and aggressive. Its low incidence has made detailed studies on epidemiology, survival, and consensus treatment modalities a challenge, and also has limited developing standardized protocols for diagnosis and management. This study analyzes the clinical factors of patients diagnosed with sinonasal malignant lymphoma and their treatment modalities to understand therapeutic outcome and prognostic factors.Subjects and Method The medical records of patients diagnosed between 2011 and 2020 as sinonasal (SN) malignant lymphoma (extranodal NK/T cell lymphoma [ENKTL]/diffuse large B cell lymphoma [DLBCL]) in Seoul national university hospital were retrospectively reviewed. Results: A total 42 patients were included in the study. Of those, 30 patients were SN-ENKTL, 12 patients were SN-DLBCL. The mean age of SN-DLBCL and SN-DLBCL groups was 52.8±14.4, 60.8±12.4, respectively. The main chief complaint was nasal obstruction (54%). Approximately 75% were diagnosed as stage II (Ann-Arbor staging system) and most of the patients received multi-agent chemotherapy or chemoradiotherapy. The 3-year overall survival rate for SN-DLBCL and SN-DLBCL groups was roughly 90%, 88.9%, respectively and the average of disease-free survival period was approximately 41.1 and 22.1 months, respectively, after initiation of treatment. Conclusion We found that sinonasal malignant lymphoma is highly responsive to chemo or chemoradiotherapy. Early accurate diagnosis is important as early-stage patients receiving therapy may benefit from chemo or chemoradiotherapy. Our clinical data showed that in ambiguous situations, wide excision should be considered for diagnosis.

Background and Objectives: Sinonasal malignant lymphoma is rare and aggressive. Its low incidence has made detailed studies on epidemiology, survival, and consensus treatment modalities a challenge, and also has limited developing standardized protocols for diagnosis and management. This study analyzes the clinical factors of patients diagnosed with sinonasal malignant lymphoma and their treatment modalities to understand therapeutic outcome and prognostic factors.Subjects and Method The medical records of patients diagnosed between 2011 and 2020 as sinonasal (SN) malignant lymphoma (extranodal NK/T cell lymphoma [ENKTL]/diffuse large B cell lymphoma [DLBCL]) in Seoul national university hospital were retrospectively reviewed. Results: A total 42 patients were included in the study. Of those, 30 patients were SN-ENKTL, 12 patients were SN-DLBCL. The mean age of SN-DLBCL and SN-DLBCL groups was 52.8±14.4, 60.8±12.4, respectively. The main chief complaint was nasal obstruction (54%). Approximately 75% were diagnosed as stage II (Ann-Arbor staging system) and most of the patients received multi-agent chemotherapy or chemoradiotherapy. The 3-year overall survival rate for SN-DLBCL and SN-DLBCL groups was roughly 90%, 88.9%, respectively and the average of disease-free survival period was approximately 41.1 and 22.1 months, respectively, after initiation of treatment. Conclusion We found that sinonasal malignant lymphoma is highly responsive to chemo or chemoradiotherapy. Early accurate diagnosis is important as early-stage patients receiving therapy may benefit from chemo or chemoradiotherapy. Our clinical data showed that in ambiguous situations, wide excision should be considered for diagnosis.