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.

Anterior cruciate ligament (ACL) rupture leads to weakened quadriceps muscle strength and a decline in proprioception, impairing the neuromuscular control of the lower extremities. ACL reconstruction, aimed at addressing such structural and functional instability, has become a primary treatment method for young and active patients. Consequently, there have been significant advancements in surgical techniques, resulting in improved clinical outcomes. However, achieving successful outcomes after ACL reconstruction is not solely dependent on the surgery itself; pre- and postoperative rehabilitation and management are equally crucial. A well-designed functional recovery program based on medical evidence before and after ACL reconstruction plays a vital role in restoring function to preinjury levels. The process of the functional recovery program, from presurgery to sports return, should adhere to certain principles. These principles involve prompt and accurate clinical diagnosis and patient classification after injury, systematic programs addressing joint swelling and inflammation control, reduction of arthrogenic muscle inhibition, restoration of range of motion, muscle strength recovery, and proprioception restoration. Postoperatively, it is essential to go beyond traditional methods (such as range of motion restoration and muscle strengthening) by implementing a functional recovery program that includes enhancement of proprioception and neuromuscular control system from the early stages, considering the biological healing response of the graft. This comprehensive approach is vital for achieving optimal outcomes in the recovery of function after ACL reconstruction.

Purpose: Recent studies have demonstrated the usefulness of diffusion-weighted MR neurography (DW MRN) for assessing nerve roots. This study aimed to evaluate the utility of DW MRN with a unidirectional motion-probing gradient (MPG) for the lumbar nerve roots at 1.5T MR. Materials and Methods: Sixty-four lumbar spine MRI scans with DW MRN using anteroposterior unidirectional MPG were retrospectively analyzed. Any changes in the 512 lumbar spinal nerve roots from L3 to S1 were evaluated using T2-weighted imaging (T2WI), contrast-enhanced T1-weighted imaging (CE T1WI), and DW MRN, with agreement and correlation analysis. Results: T2WI revealed compression of 78 nerve roots, and CE T1WI revealed 52 instances of nerve root enhancement. Sixty-seven nerve roots showed swelling and hyperintensity on DW MRN. A total of 42 nerve roots showed changes in the CE T1WI and DW MRN sequences.Moderate to substantial agreement and moderate positive correlation were observed between DW MRN and CE T1WI, as well as DW MRN and T2WI (κ = 0.59–0.65, ρ = 0.600–0.653). Conclusion DW MRN with unidirectional anteroposterior MPG can help evaluate neuritisrelated changes in spinal nerve roots and could serve as a sequence capable of complementing or substituting gadolinium CE imaging.

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: 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.

The Weight Management Health Note application, developed by the Korean Society for the Study of Obesity (KSSO), was designed to assist individuals in weight management and enhance overall well-being. The Committee of IT-Convergence Treatment of Metabolic Syndrome of the KSSO designed this application. Committee members reviewed and supervised the application’s underlying driving algorithms and scientific rationale. A healthcare-specific application developer subsequently finalized the application. This application encompasses a myriad of features, including a comprehensive food diary, an exercise tracker, and tailor-made lifestyle recommendations aligned with individual needs and aspirations. Moreover, it facilitates connections within a community of like-minded individuals endeavoring to manage their weight, fostering mutual support and motivation. Importantly, the application is rich in evidence-based health content curated by the KSSO, ensuring users access accurate information for effective obesity management. Looking ahead, the KSSO is committed to orchestrating diverse academic research endeavors linked to this application and refining its functionalities through continuous feedback from users. The KSSO aspires for this application to serve as a valuable resource for individuals striving to manage their health and enhance their quality of life.