Background: Because of the low prevalence of inherited retinal diseases, reports on the distribution of retinitis pigmentosa (RP)-related genes in Korean patients are scarce. The aim of this study was to determine the mutation spectrum and allele frequency and observe the final diagnoses in a Korean cohort clinically diagnosed with RP. Methods: We used whole-exome sequencing (WES) to analyze a Korean cohort of 100 unrelated patients clinically diagnosed with RP. The possible pathogenicity of each variant was assessed based on the guidelines of the American College of Medical Genetics and Genomics and Association for Molecular Pathology, in-silico prediction tools, known clinical phenotypes, and inheritance patterns. Results: Definite causative genes were detected in 60/100 patients (60.0%). Of these 60 cases, USH2A was the most common causative gene (14/60, 23.3%), followed by EYS (13/60, 21.7%) and RP1 (6/60, 10.0%). The clinical diagnosis was redefined in 9 of the 60 probands (15.0%) with causative genes after WES. Five of the 60 patients (8.3%) carried a causative variant in CHM, and the clinical diagnosis was redefined as choroideremia. Leber congenital amaurosis was diagnosed in 2/60 probands (3.3%), and RDH12 and RPGRIP1 were the causative genes in each patient. One patient (1/60, 1.7%) was diagnosed with Bietti’s crystalline dystrophy, with CYP4V2 identified as the causative gene. In another patient (1/60, 1.7%), ABCA4 variants were detected with clinical findings suggestive of cone-rod dystrophy. Conclusion This study reports the mutational spectrum of a cohort of Korean patients with a clinical diagnosis of RP who were referred for genetic testing. This study adds valuable data regarding the frequency of genes as well as their relation to the age of symptom onset and relation to other inherited retinal degenerations.

Background: With growing elderly populations, management of patients with acute stroke is increasingly important. In South Korea, the Acute Stroke Quality Assessment Program (ASQAP) has contributed to improving the quality of stroke care and practice behavior in healthcare institutions. While the mortality of hemorrhagic stroke remains high, there are only a few assessment indices associated with hemorrhagic stroke. Considering the need to develop assessment indices to improve the actual quality of care in the field of acute stroke treatment, this study aims to investigate the current status of human resources and practices related to the treatment of patients with acute stroke through a nationwide survey. Methods: For the healthcare institutions included in the Ninth ASQAP of the Health Insurance Review and Assessment Service (HIRA), data from January 2022 to December 2022 were collected through a survey on the current status and practice of healthcare providers related to the treatment of patients with acute stroke. The questionnaire consisted of 19 items, including six items on healthcare providers involved in stroke care and 10 items on the care of patients with acute stroke. Results: In the treatment of patients with hemorrhagic stroke among patients with acute stroke, neurosurgeons were the most common providers. The contribution of neurosurgeons in the treatment of ischemic stroke has also been found to be equivalent to that of neurologists. However, a number of institutions were found to be devoid of healthcare providers who perform definitive treatments, such as intra-arterial thrombectomy for patients with ischemic stroke or cerebral aneurysm clipping for subarachnoid hemorrhage. The intensity of the workload of healthcare providers involved in the care of patients with acute stroke, especially those involved in definitive treatment, was also found to be quite high. Conclusion Currently, there are almost no assessment indices specific to hemorrhagic stroke in the ASQAP for acute stroke. Furthermore, it does not reflect the reality of the healthcare providers and practices that provide definitive treatment for acute stroke. The findings of this study suggest the need for the development of appropriate assessment indices that reflect the realities of acute stroke care.

Background: Children, adolescents, and young adults (CAYAs) with severe illnesses require intensive treatment, often relying on medical devices and advanced medical services.Modern medical technology has improved the lifespans of these patients. In addition, CAYAs represent a vulnerable group, resulting in a significant caregiving burden on the entire family.This study examined patterns of medical utilization following diagnosis of a life-limiting condition (LLC). Methods: We establish a cohort of 176,236 CAYAs who were first diagnosed with an LLC using National Health Insurance data between 2011 and 2013. Patients diagnosed with an LLC within the 3 years preceding this period and those who had died were excluded, and only those receiving care at a general medical hospital were included. In total, 25,410,411 claims for medical expenses, outpatient visits, and lengths of stay for medical utilization over the approximately 10 years up to 2020 were investigated (2.3% inpatients, 97.7% outpatients). Results: The average annual medical utilization per LLC patient among CAYAs following initial diagnosis included medical expenses of $1,163, 16.8 outpatient visits, and 18.7 days of admission. Among inpatients, cancer patients averaged $5,340 for total medical expenses and 21.0 days of admission, while non-cancer patients averaged $3,013 and 18.1 days, respectively. The overall average medical expenses during the first year following diagnosis of an LLC were $3,012, whereas for cancer patients they were $5,962. In addition, there was a sharp increase in total medical expenses as death approached, particularly in the last month of life, with a considerable proportion attributable to critical-care treatments. Conclusion Our investigation into medical utilization by CAYAs with an LLC in Korea provides a foundation for healthcare policy development. Timely treatment at each stage and tailored policies that take into account the heterogeneity among diseases are of paramount importance.

Background: Tinnitus is a multifactorial condition with no universally accepted assessment guidelines. The Korean Tinnitus Study Group previously established consensus statements on the definition, classification, and diagnostic tests for tinnitus. As a continuation of this effort, this study aims to establish expert consensus on tinnitus assessment and treatment outcome evaluation, specifically tailored to the Korean clinical context. Methods: A modified Delphi method involving 26 otology experts from across Korea was used. A two-round Delphi survey was conducted to evaluate statements related to tinnitus assessment before and after treatment. Statements were rated on a scale of 1 to 9 for the level of agreement. Consensus was defined as ≥ 70% agreement (score of 7–9) and ≤ 15% disagreement (score of 1–3). Statistical measures such as content validity ratio and Kendall’s coefficient of concordance (W) were calculated to assess agreement levels. Results: Of the 46 assessment-related statements, 17 (37%) reached consensus, though overall pre-treatment assessments showed weak agreement (Kendall’s W = 0.319). Key areas of agreement included the use of the visual analogue scale, numeric rating scale, and validated questionnaires for pre-treatment evaluation. Five statements, such as the use of computed tomography, magnetic resonance imaging, and angiography for diagnosing pulsatile tinnitus, achieved over 90% agreement. For treatment outcome measurements, 8 of 12 statements (67%) reached a consensus, with moderate agreement (Kendall’s W = 0.513). Validated questionnaires and psychoacoustic tests were recommended for evaluating treatment effects within 12 weeks. While standardized imaging for pulsatile tinnitus and additional clinical tests were strongly recommended, full consensus was not achieved across all imaging modalities. Conclusion This study provides actionable recommendations for tinnitus assessment and treatment evaluation, emphasizing the use of standardized tools and individualized approaches based on patient needs. These findings offer a practical framework to enhance consistency and effectiveness in tinnitus management within Korean clinical settings.

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: Shortage of organ donors in the Republic of Korea has become a major problem. To address this, it has been questioned whether heart transplant (HTx) allocation should be modified to reduce priority of older patients. We aimed to evaluate post-HTx outcomes according to recipient age and specific pre-HTx conditions using a nationwide prospective cohort. Methods: We analyzed clinical characteristics of 628 patients from the Korean Organ Transplant Registry who received HTx from January 2015 to December 2020. Enrolled recipients were divided into three groups according to age. We also included comorbidities including ambulatory status. Non-ambulatory status was defined as pre-HTx support with either extracorporeal membrane oxygenation, continuous renal replacement therapy, or mechanical ventilation. Results: Of the 628 patients, 195 were < 50 years, 322 were 50–64 years and 111 were ≥ 65years at transplant. Four hundred nine (65.1%) were ambulatory and 219 (34.9%) were nonambulatory. Older recipients tended to have more comorbidities, ischemic cardiomyopathy, and received older donors. Post-HTx survival was significantly lower in older recipients (P = 0.025) and recipients with non-ambulatory status (P < 0.001). However, in contrast to non-ambulatory recipients who showed significant survival differences according to the recipient’s age (P = 0.004), ambulatory recipients showed comparable outcomes (P = 0.465). Conclusion Our results do not support use of age alone as an allocation criterion. Transplant candidate age in combination with some comorbidities such as non-ambulatory status may identify patients at a sufficiently elevated risk at which suitability of HTx should be reconsidered.

Background: Hip fractures (HFs) are major osteoporotic injuries associated with morbidity, loss of independence, increased mortality, and an increased socioeconomic burden.The total number of HFs is increasing owing to an aging population. While studies have focused on 30-day or 1-year mortality after HF surgery, studies reporting long-term mortality are lacking. Our study bridges this knowledge gap by exploring the relationship between frailty, postoperative complications, and the 5-year mortality after HF surgery.This study aimed to identify the risk factors associated with 5-year mortality after HF surgery. The impact of the Hip-Multidimensional Frailty Score (Hip-MFS) and postoperative complications on 5-year mortality was compared. Methods: This retrospective study included 536 individuals aged 65 years and older with HFs who underwent surgery between 2009 and 2014. The Hip-MFS was calculated using the comprehensive geriatric assessment. Patients whose Hip-MFS score above 8 considered as frail. Postoperative complications included pneumonia, urinary tract infection, delirium, pulmonary thromboembolism, and unplanned intensive care unit admission after surgery.The primary outcome was 5-year mortality. Univariate and multivariate cox-regression, Kaplan–Meier analysis and log-rank tests were used to assess predictive value of frailty and postoperative complications on 5-year mortality. Results: The mean age was 80.5 ± 7.0 years and 71.3% (n = 382) were women. Overall, 48.3% (n = 259) were diagnosed with femoral neck fractures, and 51.7% (n = 277) were diagnosed with intertrochanteric fractures. A total of 223 (41.6%) patients experienced postoperative complications. The overall mortality rate was 60.4% (n = 324), with 1-year and 5-year mortality rates after HF surgery being 13.8% (n = 74) and 43.8% (n = 235), respectively. In the multivariate regression analysis, after adjusting for clinical and demographic factors, the high-risk Hip-MFS group and the group with postoperative complications had hazard ratios for 5-year survival of 1.513 (95% confidence interval [CI], 1.105–2.017; P = 0.010) and 1.470 (95% CI, 1.117–1.936;P = 0.006), respectively. Patients who had postoperative complications with a low Hip-MFS showed better 5-year survival than those without postoperative complications with a high Hip-MFS in the Kaplan–Meier curve (P = 0.013). Conclusion A high Hip-MFS risk and postoperative complications were associated with an increased 5-year mortality rate. In comparison to the occurrence of postoperative complications, the frailty status evaluated using the Hip-MFS had a more significant impact on long-term mortality after HF surgery.

Background: We evaluated severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2)-specific humoral and cellular responses for up to 6 months after the 3rd dose of ancestral coronavirus disease 2019 (COVID-19) vaccination in people living with HIV (PLWH) and healthy controls (HCs) who were not infected with COVID-19. Methods: Anti-spike receptor-binding domain IgG (anti-RBD IgG) concentrations using chemiluminescence immunoassay and neutralizing antibodies using focus reduction neutralization test (FRNT) were assessed at 1 week after each dose of vaccination, and 3 and 6 months after the 3rd dose in 62 PLWH and 25 HCs. T-cell responses using intracellular cytokine stain were evaluated at 1 week before, and 1 week and 6 months after the 3rd dose. Results: At 1 week after the 3rd dose, adequate anti-RBD IgG (> 300 binding antibody unit /mL) was elicited in all PLWH except for one patient with 36 CD4 T-cell count/mm3 . The geometric mean titers of 50% FRNT against wild type (WT) and omicron BA.5 strains of SARS-CoV-2 in PLWH with CD4 T-cell count ≥ 500 cells/mm3(high CD4 recovery, HCDR) were comparable to HC, but they were significantly decreased in PLWH with CD4 T-cell count < 500/mm3 (low CD4 recovery, LCDR). After adjusting for age, gender, viral suppression, and number of preexisting comorbidities, CD4 T-cell counts < 500/mm3 significantly predicted a poor magnitude of neutralizing antibodies against WT, omicron BA.5, and XBB 1.5 strains among PLWH. Multivariable linear regression adjusting for age and gender revealed that LCDR was associated with reduced neutralizing activity (P = 0.017) and interferon-γ-producing T-cell responses (P = 0.049 for CD T-cell; P = 0.014 for CD8 T-cell) against WT, and strongly associated with more decreased cross-neutralization against omicron BA.5 strains (P < 0.001). Conclusion HCDR demonstrated robust humoral and cell-mediated immune responses after a booster dose of ancestral SARS-CoV-2 vaccine, whereas LCDR showed diminished immune responses against WT virus and more impaired cross-neutralization against omicron BA.5 strain.

von Hippel-Lindau (VHL) disease is a genetic condition predisposing individuals to the development of benign and malignant tumors across various organs. This review explores the intricate genetic underpinnings of VHL disease, its clinical manifestations, and the associated malignancy risks. The latest diagnostic criteria, surveillance guidelines, and advancements in therapeutic strategies, including the Food and Drug Administration-approved hypoxia-inducible factor-2α inhibitor, belzutifan, are focused on. Through a multidisciplinary approach, tailored surveillance programs aim to improve patient outcomes while balancing intervention risks. Emerging technologies such as wholebody magnetic resonance imaging and liquid biopsies hold promises for enhancing non-invasive surveillance. This review underscores the significance of ongoing research and interdisciplinary care in managing this complex syndrome.

Background: s/Aims: Hepatocellular carcinoma (HCC) is the sixth most common cancer and second leading cause of cancer-related deaths in South Korea. This study evaluated the characteristics of Korean patients newly diagnosed with HCC in 2016-2018. Methods: Data from the Korean Primary Liver Cancer Registry (KPLCR), a representative database of patients newly diagnosed with HCC in South Korea, were analyzed. This study investigated 4,462 patients with HCC registered in the KPLCR in 2016-2018. Results: The median patient age was 63 years (interquartile range, 55-72). 79.7% of patients were male. Hepatitis B infection was the most common underlying liver disease (54.5%). The Barcelona Clinic Liver Cancer (BCLC) staging system classified patients as follows: stage 0 (14.9%), A (28.8%), B (7.5%), C (39.0%), and D (9.8%). The median overall survival was 3.72 years (95% confidence interval, 3.47-4.14), with 1-, 3-, and 5-year overall survival rates of 71.3%, 54.1%, and 44.3%, respectively. In 2016-2018, there was a significant shift toward BCLC stage 0-A and Child-Turcotte-Pugh liver function class A (P<0.05), although survival rates did not differ by diagnosis year. In the treatment group (n=4,389), the most common initial treatments were transarterial therapy (31.7%), surgical resection (24.9%), best supportive care (18.9%), and local ablation therapy (10.5%). Conclusions Between 2016 and 2018, HCC tended to be diagnosed at earlier stages, with better liver function in later years. However, since approximately half of the patients remained diagnosed at an advanced stage, more rigorous and optimized HCC screening strategies should be implemented.