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: Humans are exposed to mercury primarily in its highly toxic form, methyl mercury, which is known to have adverse effects on various organs and systems. The negative impact of mercury exposure on the growth, development, and mental health of children, from infancy to adolescence, is well-documented. However, there are no internationally standardized safe limits for mercury exposure. This study investigated the impact of dietary habits and higher body mass index (BMI) on blood mercury levels in adolescents. Methods: This study analyzed the data from the 4th Korean National Environmental Health Survey (KoNEHS) 2018–2020. The focus was on 825 middle and high school students aged 13–18 years, whose blood mercury levels were measured. A survey on dietary and lifestyle habits was also conducted. Blood mercury levels were categorized by geometric median values, and associations with overweight status and seafood consumption were examined using a generalized linear model. Results: The geometric mean blood mercury level for the entire sample was 1.37 μg/L, with levels of 1.31 μg/L in normal-weight individuals and 1.43 μg/L in overweight individuals, showing a statistically significant difference between the two groups. After adjusting for other variables, blood mercury levels were significantly associated with overweight status (estimate: 0.084; p = 0.018; 95% confidence interval [CI]: 0.015–0.153), consumption of large fish and tuna more than once a week (estimate: 0.18; p = 0.001; 95% CI: 0.077–0.284), and consumption of fish once a week or more (estimate: 0.147; p = 0.004; 95% CI: 0.043–0.250). Conclusions In adolescents, a higher BMI and an increased consumption of large fish, tuna, and fish were associated with higher blood mercury levels. Notably, a stronger association was found between large fish consumption and blood mercury levels in the overweight group. These findings suggest the need to moderate seafood consumption and establish more proactive mercury exposure standards for adolescents.

Gastric cancer with peritoneal metastasis (GCPM) is a common and lethal manifestation of advanced gastric cancer, with a median survival of only 5-11 months. This consensus was developed by 30 experts from Asia (China, Japan, Korea, and Singapore) using the Delphi method and the GRADE evidence grading system. A total of 29 statements were formulated, covering the diagnosis and assessment of GCPM, indications for laparoscopic exploration and NIPS (normothermic intraperitoneal and systemic treatment), treatment regimens, prevention and management of complications, criteria for conversion surgery, and postoperative intraperitoneal therapy. The consensus aims to standardize clinical practice and improve the prognosis of patients with GCPM.

Background: Prevention of contrast-induced nephropathy (CIN) is crucial in acute myocardial infarction (AMI) patients undergoing coronary interventions. Previous studies suggest that high-dose statins may aid in CIN prevention, yet comparative studies among different statin types using cystatin C (cysC) as a biomarker for CIN are absent. This study evaluated the effectiveness of high-dose rosuvastatin versus atorvastatin in preventing cysC-based CIN (cysC-CIN) in AMI patients. Methods: This multicenter registry included 431 patients (rosuvastatin 20 mg: n = 231, atorvastatin 40 mg: n = 200). The primary endpoint was cysC-CIN incidence within 48 hours post contrast; the secondary endpoints were creatinine-based CIN (cr-CIN) incidence within 72 hours post contrast and post 30 days adverse events. Results: The incidences of cysC-CIN (12.1% vs. 7.5%, P = 0.103) and cr-CIN (6.2% vs. 3.5%, P = 0.103) were higher in the atorvastatin group without significant statistical differences.Multivariable regression analysis, which was adjusted for CIN risk factors and the variables with univariate association, showed no increased odds ratio (OR) (OR, 2.185; 95% confidence interval [CI], 0.899, 5.315; P = 0.085) for cysC-CIN in the atorvastatin group compared to the rosuvastatin group. However, statin-naïve atorvastatin subgroup had significantly increased odds of cysC-CIN compared to the rosuvastatin group (OR, 2.977; 95% CI, 1.057, 8.378; P = 0.039). At post 30 days renal, cardiovascular, and mortality event rates were both low and similar between the two groups. Conclusion No significant difference in cysC-CIN incidence was found between the highdose rosuvastatin and atorvastatin groups in AMI patients and cysC was more sensitive to the early detection of CIN than creatinine.

Background: The accuracy of Logical Observation Identifiers Names and Codes (LOINC) mappings is reportedly low, and the LOINC codes used for research purposes in Korea have not been validated for accuracy or usability. Our study aimed to evaluate the discrepancies and similarities in interoperability using existing LOINC mappings in actual patient care settings. Methods: We collected data on local test codes and their corresponding LOINC mappings from seven university hospitals. Our analysis focused on laboratory tests that are frequently requested, excluding clinical microbiology and molecular tests. Codes from nationwide proficiency tests served as intermediary benchmarks for comparison. A research team, comprising clinical pathologists and terminology experts, utilized the LOINC manual to reach a consensus on determining the most suitable LOINC codes. Results: A total of 235 LOINC codes were designated as optimal codes for 162 frequent tests.Among these, 51 test items, including 34 urine tests, required multiple optimal LOINC codes, primarily due to unnoted properties such as whether the test was quantitative or qualitative, or differences in measurement units. We analyzed 962 LOINC codes linked to 162 tests across seven institutions, discovering that 792 (82.3%) of these codes were consistent. Inconsistencies were most common in the analyte component (38 inconsistencies, 33.3%), followed by the method (33 inconsistencies, 28.9%), and properties (13 inconsistencies, 11.4%). Conclusion This study reveals a significant inconsistency rate of over 15% in LOINC mappings utilized for research purposes in university hospitals, underlining the necessity for expert verification to enhance interoperability in real patient care.

Background: Prevention of contrast-induced nephropathy (CIN) is crucial in acute myocardial infarction (AMI) patients undergoing coronary interventions. Previous studies suggest that high-dose statins may aid in CIN prevention, yet comparative studies among different statin types using cystatin C (cysC) as a biomarker for CIN are absent. This study evaluated the effectiveness of high-dose rosuvastatin versus atorvastatin in preventing cysC-based CIN (cysC-CIN) in AMI patients. Methods: This multicenter registry included 431 patients (rosuvastatin 20 mg: n = 231, atorvastatin 40 mg: n = 200). The primary endpoint was cysC-CIN incidence within 48 hours post contrast; the secondary endpoints were creatinine-based CIN (cr-CIN) incidence within 72 hours post contrast and post 30 days adverse events. Results: The incidences of cysC-CIN (12.1% vs. 7.5%, P = 0.103) and cr-CIN (6.2% vs. 3.5%, P = 0.103) were higher in the atorvastatin group without significant statistical differences.Multivariable regression analysis, which was adjusted for CIN risk factors and the variables with univariate association, showed no increased odds ratio (OR) (OR, 2.185; 95% confidence interval [CI], 0.899, 5.315; P = 0.085) for cysC-CIN in the atorvastatin group compared to the rosuvastatin group. However, statin-naïve atorvastatin subgroup had significantly increased odds of cysC-CIN compared to the rosuvastatin group (OR, 2.977; 95% CI, 1.057, 8.378; P = 0.039). At post 30 days renal, cardiovascular, and mortality event rates were both low and similar between the two groups. Conclusion No significant difference in cysC-CIN incidence was found between the highdose rosuvastatin and atorvastatin groups in AMI patients and cysC was more sensitive to the early detection of CIN than creatinine.

Background: The accuracy of Logical Observation Identifiers Names and Codes (LOINC) mappings is reportedly low, and the LOINC codes used for research purposes in Korea have not been validated for accuracy or usability. Our study aimed to evaluate the discrepancies and similarities in interoperability using existing LOINC mappings in actual patient care settings. Methods: We collected data on local test codes and their corresponding LOINC mappings from seven university hospitals. Our analysis focused on laboratory tests that are frequently requested, excluding clinical microbiology and molecular tests. Codes from nationwide proficiency tests served as intermediary benchmarks for comparison. A research team, comprising clinical pathologists and terminology experts, utilized the LOINC manual to reach a consensus on determining the most suitable LOINC codes. Results: A total of 235 LOINC codes were designated as optimal codes for 162 frequent tests.Among these, 51 test items, including 34 urine tests, required multiple optimal LOINC codes, primarily due to unnoted properties such as whether the test was quantitative or qualitative, or differences in measurement units. We analyzed 962 LOINC codes linked to 162 tests across seven institutions, discovering that 792 (82.3%) of these codes were consistent. Inconsistencies were most common in the analyte component (38 inconsistencies, 33.3%), followed by the method (33 inconsistencies, 28.9%), and properties (13 inconsistencies, 11.4%). Conclusion This study reveals a significant inconsistency rate of over 15% in LOINC mappings utilized for research purposes in university hospitals, underlining the necessity for expert verification to enhance interoperability in real patient care.

Purpose: This study evaluated the postoperative quality of life (QoL) after various types of gastrectomy for gastric cancer. Materials and Methods: A multicenter prospective observational study was conducted in Korea using the Korean Quality of Life in Stomach Cancer Patients Study (KOQUSS)-40, a new QoL assessment tool focusing on postgastrectomy syndrome. Overall, 496 patients with gastric cancer were enrolled, and QoL was assessed at 5 time points: preoperatively and at 1, 3, 6, and 12 months after surgery. Results: Distal gastrectomy (DG) and pylorus-preserving gastrectomy (PPG) showed significantly better outcomes than total gastrectomy (TG) and proximal gastrectomy (PG) with regard to total score, indigestion, and dysphagia. DG, PPG, and TG also showed significantly better outcomes than PG in terms of dumping syndrome and worry about cancer. Postoperative QoL did not differ significantly according to anastomosis type in DG, except for Billroth I anastomosis, which achieved better bowel habit change scores than the others. No domains differed significantly when comparing double tract reconstruction and esophagogastrostomy after PG. The total QoL score correlated significantly with postoperative body weight loss (more than 10%) and extent of resection (P<0.05 for both).Reflux as assessed by KOQUSS-40 did not correlate significantly with reflux observed on gastroscopy 1 year postoperatively (P=0.064). Conclusions Our prospective observation using KOQUSS-40 revealed that DG and PPG lead to better QoL than TG and PG. Further study is needed to compare postoperative QoL according to anastomosis type in DG and PG.