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: Commutability refers to the consistency of results from different measurement procedures in regards to a reference material (RM) and representative samples. In this study, we evaluated the commutability of laboratory-prepared pooled sera and commercial quality control materials in the thyroid-stimulating hormone (TSH) proficiency testing program of the Korean Association of External Quality Assessment Service. Methods: Serum TSH from 30 patients was measured in triplicate. Two levels of lab-prepared pooled sera and three levels of commercial materials (Bio-Rad Liquichek Immunoassay Plus) were tested in triplicate at five positions per immunoassay platform (Beckman Coulter UniCel DxI 800, Abbott Alinity i, Roche Cobas e801, Siemens Atellica IM 1600). Commutability was assessed by comparing method differences in patient samples to RMs using the ‘International Federation of Clinical Chemistry and Laboratory Medicine’ protocol with a desirable bias of 10% based on biological variation. Results: The median TSH level for the 30 patient samples was 2.51–3.07 μIU/mL, with a coefficient of variation ranging from 1.51% to 4.32%.The median TSH levels of the in-house prepared materials were 0.912– 1.01 μIU/mL for RM2 and 9.10–10.9 μIU/mL for RM4. The median TSH levels of the commercial materials were 0.391–0.464 μIU/mL for RM1, 4.39–5.24 μIU/mL for RM3, and 28.2–35.5 μIU/mL for RM5. The in-house prepared materials (RM2, RM4) demonstrated commutability across all six method combinations. Among the commercial materials, RM1 and RM3 showed commutability in four method combinations, while RM5 showed commutability in three method combinations. Conclusions The evaluation results for the TSH proficiency testing materials showed that the in-house prepared materials had higher commutability than the commercial materials.

Background: The preanalytical phase is more vulnerable to errors. This study aimed to establish preanalytical quality indicators (QIs) suitable for Korean clinical laboratories and investigate the current status of preanalytical phase performance monitoring in Korea using these QIs. Methods: We reviewed previous studies investigating preanalytical QIs including the International Federation of Clinical Chemistry (IFCC) model of QIs, to establish a set of QIs for Korean clinical laboratories. An e-mail survey consisting of this QI set was sent to 90 clinical laboratories. The collected data were analyzed, and performance measures were evaluated according to the quality specifications defined by the IFCC and the sigmascale method. Results: A model consisting of 23 preanalytical phase QIs was established.Approximately 47% (42/90) of clinical laboratories responded to the survey.The average result submission rate for each QI was 56% (standard deviation, 26%). The QIs with the highest and lowest result submission rates were “rejected samples due to hemolysis” (95%) and “recollected sample due to errors caused outside the laboratory” (17%). The QIs with the highest and lowest error rates were “hemolyzed sample detected by hemolytic index” (median, 0.546%; sigma performance level, “good”) and “samples not received” (median, 0.001%; sigma performance level, “very good”), respectively. Conclusions This survey findings on preanalytical phase QIs could serve as a foundation for developing an external quality assessment program for clinical laboratories in Korea.

In the rapidly evolving healthcare environment, radiologists strive to establish their rightful place.Thus, there is a need for enhanced outpatient and clinical education within the Department of Radiology and exploration of its methodologies. Accordingly, the Korean Society of Radiology established a task force to investigate the clinical and outpatient practice status of radiologists overseas, current state of related education, involvement of other specialties in radiologic practices and education in Korea, and clinical and outpatient practice status among Korean radiologists. Furthermore, a survey on clinical competency enhancement was conducted among the members of the Korean Society of Radiology. These findings suggest the need for visibility and clinical competency enhancement in radiologists and methodologies for strengthening clinical competencies.

Background: It is well known that a large number of patients with diabetes also have dyslipidemia, which significantly increases the risk of cardiovascular disease (CVD). This study aimed to evaluate the efficacy and safety of combination drugs consisting of metformin and atorvastatin, widely used as therapeutic agents for diabetes and dyslipidemia. Methods: This randomized, double-blind, placebo-controlled, parallel-group and phase III multicenter study included adults with glycosylated hemoglobin (HbA1c) levels >7.0% and <10.0%, low-density lipoprotein cholesterol (LDL-C) >100 and <250 mg/dL. One hundred eighty-five eligible subjects were randomized to the combination group (metformin+atorvastatin), metformin group (metformin+atorvastatin placebo), and atorvastatin group (atorvastatin+metformin placebo). The primary efficacy endpoints were the percent changes in HbA1c and LDL-C levels from baseline at the end of the treatment. Results: After 16 weeks of treatment compared to baseline, HbA1c showed a significant difference of 0.94% compared to the atorvastatin group in the combination group (0.35% vs. −0.58%, respectively; P<0.0001), whereas the proportion of patients with increased HbA1c was also 62% and 15%, respectively, showing a significant difference (P<0.001). The combination group also showed a significant decrease in LDL-C levels compared to the metformin group (−55.20% vs. −7.69%, P<0.001) without previously unknown adverse drug events. Conclusion The addition of atorvastatin to metformin improved HbA1c and LDL-C levels to a significant extent compared to metformin or atorvastatin alone in diabetes and dyslipidemia patients. This study also suggested metformin’s preventive effect on the glucose-elevating potential of atorvastatin in patients with type 2 diabetes mellitus and dyslipidemia, insufficiently controlled with exercise and diet. Metformin and atorvastatin combination might be an effective treatment in reducing the CVD risk in patients with both diabetes and dyslipidemia because of its lowering effect on LDL-C and glucose.

Background: Thyroid-stimulating hormone (TSH)-secreting pituitary neuroendocrine tumor (TSH PitNET) is a rare subtype of PitNET. We investigated the comprehensive characteristics and outcomes of TSH PitNET cases from a single medical center. Also, we compared diagnostic methods to determine which showed superior sensitivity. Methods: A total of 17 patients diagnosed with TSH PitNET after surgery between 2002 and 2022 in Samsung Medical Center was retrospectively reviewed. Data on comprehensive characteristics and treatment outcomes were collected. The sensitivities of diagnostic methods were compared. Results: Seven were male (41%), and the median age at diagnosis was 42 years (range, 21 to 65); the median follow-up duration was 37.4 months. The most common (59%) initial presentation was hyperthyroidism-related symptoms. Hormonal co-secretion was present in four (23%) patients. Elevated serum alpha-subunit (α-SU) showed the greatest diagnostic sensitivity (91%), followed by blunted response at thyrotropin-releasing hormone (TRH) stimulation (80%) and elevated sex hormone binding globulin (63%). Fourteen (82%) patients had macroadenoma, and a specimen of one patient with heavy calcification was negative for TSH. Among 15 patients who were followed up for more than 6 months, 10 (67%) achieved hormonal and structural remission within 6 months postoperatively. A case of growth hormone (GH)/TSH/prolactin (PRL) co-secreting mixed gangliocytoma-pituitary adenoma (MGPA) was discovered. Conclusion The majority of the TSH PitNET cases was macroadenoma, and 23% showed hormone co-secretion. A rare case of GH/TSH/PRL co-secreting MGPA was discovered. Serum α-SU and TRH stimulation tests showed great diagnostic sensitivity. Careful consideration is needed in diagnosing TSH PitNET. Achieving remission requires complete tumor resection. In case of nonremission, radiotherapy or medical therapy can improve the long-term remission rate.

The estimated global prevalence of diabetes is similar for women and men (8.4% vs. 8.9%). Even among people with type 2 diabetes (T2D), there are known gender differences in the impact of the disease. The relative risk of cardiovascular (CV) complications between people with and without T2D is higher in women than in men. In contrast, lifestyle interventions and bariatric surgery appear to have similar effects regardless of gender. Importantly, not only is the excess risk of coronary artery disease associated disproportionately highly with diabetes, but the clinical presentation of coronary artery disease differs between women and men. Women more often present with atypical symptoms of angina, which can hinder accurate diagnosis and early treatment, potentially leading to disease progression and subsequent myocardial infarction. Whether these gender differences also exist in CV disease remains uncertain. Evidence that men and women experience diabetes-related conditions differently suggests that further research is needed to clarify the biological, behavioral, or social mechanisms involved. Meanwhile, the menopausal transition in women is a time of accelerated cardiovascular disease risk. Endocrine and metabolic changes are closely linked during the menopausal transition. This review highlights key differences in diabetes-related CV complications by gender.