Background: Chromosomal alterations serve as diagnostic and prognostic markers in acute leukemia. Given the evolving landscape of chromosomal abnormalities in acute leukemia, we previously studied these over two periods. In this study, we investigated the frequency of these abnormalities and clinical trends in acute leukemia in Korea across three time periods. Methods: We retrospectively analyzed data from 1,787 patients with acute leukemia (319 children and 1,468 adults) diagnosed between 2006 and 2020. Conventional cytogenetics, FISH, and multiplex quantitative PCR were used for analysis. The patient groups were divided according to the following three study periods: 2006–2009 (I), 2010–2015 (II), and 2016–2020 (III). Results: Chromosomal aberrations were detected in 92% of patients. The PML::RARA translocation was the most frequent. Over the 15-yr period, chromosomal aberrations showed minimal changes, with specific fusion transcripts being common among patients.ALL was more prevalent in children than in adults and correlated significantly with the ETV6::RUNX1 and RUNX1::RUNX1T1 aberrations. The incidence of ALL increased during the three periods, with PML::RARA remaining common. Conclusions The frequency of chromosomal abnormalities in acute leukemia has changed subtly over time. Notably, the age of onset of adult AML has continuously increased. Our results may help in establishing diagnoses and clinical treatment strategies and developing various molecular diagnostic platforms.

Background: Various molecular methods are used to rapidly detect gastrointestinal pathogens, highlighting the importance of understanding the performance of the associated kits in detail. We comprehensively assessed the performance of Kogene PowerChek multiplex real-time PCR kits (PowerChek Bacterial/Viral Kits) with the FilmArray GI Panel. Methods: Residual stool specimens (N = 246), initially tested utilizing the FilmArray GI Panel (May 2023–Jan 2024), were reanalyzed using PowerChek Bacterial/Viral Kits. Discrepancies were resolved by performing additional molecular assays and reviewing culture results when available. True positives (TPs)/true negatives were defined by concordant results in at least two assays. We determined cycle threshold (Ct)/crossing point (Cp) distributions between the TP and false positive (FP) groups and analyzed melting curves for the FilmArray GI Panel FPs. Results: The positive-percent agreement (PPA) of the PowerChek Bacterial/Viral Kits was 50–100%, with lower values for Salmonella spp., rotavirus, and astrovirus, whereas the FilmArray GI Panel showed 100% PPA across all targets. Both platforms demonstrated > 99% negative-percent agreement, except for enteropathogenic Escherichia coli (EPEC) and adenovirus (PowerChek Bacterial/Viral Kits) or EPEC, enteroaggregative E. coli, norovirus, and Salmonella spp. (FilmArray GI Panel). The FPs showed higher Ct/Cp values with both kits, and these values were significantly higher for adenovirus (PowerChek Viral Kit), EPEC, and norovirus (FilmArray GI Panel). Melting curve analysis of four norovirus FPs (FilmArray GI Panel) revealed atypical patterns in three cases. Conclusions The FilmArray GI Panel demonstrated higher sensitivity than the PowerChek Kits. For norovirus, melting curve analysis will help avoid FPs.

Objectives: Depression and anxiety are emotional difficulties that are common among adolescents. Adolescents suffering from depression and anxiety can exhibit problems such as antisocial behavior, aggression, and academic slump. This study aimed to explore the factors influencing adolescents’ depression and anxiety during the coronavirus disease 2019 (COVID-19) pandemic. Methods: This study examined the data from an online student health survey conducted by the Ministry of Education in 2022. The survey participants were 131194 students ranging from the first grade of middle school to the third grade of high school. The influence of each variable on depression and anxiety was examined. Results: Factors that predicted depression and anxiety were sex (female), grade level (higher), financial difficulties (existing or unknown), physical activity (higher), sleep time (shorter), media usage time (higher), family/friends relationship (worse), and change in the health status of family, friends, and oneself due to COVID-19 (worse). Conclusion These results may help identify patterns of depression and anxiety among adolescents caused by COVID-19 and maximize the intervention effect.

Objective: The aim of this study was to investigate the association between blood levels of tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6) and cognitive impairments among elderly individuals. Methods: Peripheral concentration of TNF-α and IL-6 were measured in all subjects. To assess individual cognitive function, the Consortium to Establish a Registry for Alzheimer’s Disease Neuropsychological Assessment Battery (CERAD-NP) was used, and standardized scores (z-scores) were calculated for each test. Cytokine levels were compared between the diagnostic groups, and correlations between blood inflammatory factor levels and z-scores were analyzed. Results: The 37 participants included 8 patients with Alzheimer’s disease (AD), 15 subjects with mild cognitive impairment (MCI), and 14 cognitively healthy controls. TNF-α and IL-6 levels were higher in patients with AD than in healthy controls. TNF-α levels were higher in the AD group than in the MCI group. However, after adjusting for age, the associations between diagnosis and TNF-α and IL-6 were not significant. The higher the plasma IL-6 level, the lower the z-scores on the Boston Naming Test, Word List Learning, Word List Recognition, and Constructional Recall. The higher the serum TNF-α level, the lower the z-scores on the Word List Learning and Constructional Recall. Negative correlation between serum TNF-α level and the z-score on Word List Learning remained significant when age was adjusted. Conclusion The difference in the blood levels of TNF-α and IL-6 between the diagnostic groups may be associated with aging. However, elevated TNF-α levels were associated with worse immediate memory performance, even after adjusting for age.

Purpose: Renal tumors account for approximately 7% of all childhood cancers. These include Wilms tumor (WT), clear cell sarcoma of the kidney (CCSK), malignant rhabdoid tumor of the kidney (MRTK), renal cell carcinoma (RCC), congenital mesoblastic nephroma (CMN) and other rare tumors. We investigated the epidemiology of pediatric renal tumors in Korea. Materials and Methods: From January 2001 to December 2015, data of pediatric patients (0–18 years) newly-diagnosed with renal tumors at 26 hospitals were retrospectively analyzed. Results: Among 439 patients (male, 240), the most common tumor was WT (n=342, 77.9%), followed by RCC (n=36, 8.2%), CCSK (n=24, 5.5%), MRTK (n=16, 3.6%), CMN (n=12, 2.7%), and others (n=9, 2.1%). Median age at diagnosis was 27.1 months (range 0-225.5) and median follow-up duration was 88.5 months (range 0-211.6). Overall, 32 patients died, of whom 17, 11, 1, and 3 died of relapse, progressive disease, second malignant neoplasm, and treatment-related mortality. Five-year overall survival and event free survival were 97.2% and 84.8% in WT, 90.6% and 82.1% in RCC, 81.1% and 63.6% in CCSK, 60.3% and 56.2% in MRTK, and 100% and 91.7% in CMN, respectively (p < 0.001). Conclusion The pediatric renal tumor types in Korea are similar to those previously reported in other countries. WT accounted for a large proportion and survival was excellent. Non-Wilms renal tumors included a variety of tumors and showed inferior outcome, especially MRTK. Further efforts are necessary to optimize the treatment and analyze the genetic characteristics of pediatric renal tumors in Korea.

Background: This study aimed to differentiate video nystagmography (VNG) characteristics, including the video head impulse test (vHIT), in patients with idiopathic rapid eye movement behavior disorder (RBD) from healthy controls, which is considered a precursor to degenerative diseases. Methods: One hundred eighty-five patients underwent overnight polysomnography (PSG) and VNG. Based on overnight PSG, 27 patients with RBD or REM sleep without atonia (RWA) and AHI<15 were categorized into the RBD group, 34 patients with RBD/RWA and AHI≥15 were grouped into the combined group. Sixty patients with AHI≥15 and no RBD/RWA were included in the obstructive sleep apnea (OSA) group, and 64 negative participants were assigned to the control group. In VNG, we measured the gain of vHIT in each canal, with the latency, amplitude, and velocity of horizontal saccades and smooth pursuit. We compared the results between groups using ANOVA, after normalization and adjustment for age and sex. Results: The gain of vHIT in the left horizontal canal was decreased in the RBD group, but it was more pronounced in the OSA group. Elevated gain of the left posterior canal was seen in the RBD group, but technical errors were attributable. The RBD group displayed prolonged latency of saccade on the left side and slowed saccade on the right side, but these were statistically insignificant. Conclusions The VNG study revealed differences between the sleep disorders, potentially reflecting brainstem function in each disorder. However, these differences lacked statistical significance. We anticipate that significant results could be obtained with more controlled conditions.

Background: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematologic disorder characterized by uncontrolled terminal complement activation. Eculizumab, a monoclonal antibody C5 inhibitor was introduced in Korea in 2009 and has been the standard treatment option for PNH. Methods: This study assessed the long-term efficacy/safety of eculizumab in PNH using real-world data from the Korean Health Insurance Review and Assessment Service. Eighty patients who initiated eculizumab from 2009–2020 were enrolled. Results: At eculizumab initiation, the median age was 51.5 years, lactate dehydrogenase (LDH) 6.8 × upper limit of normal, and granulocyte clone size 93.0%. All patients had at least one PNH-related complication before eculizumab initiation, including renal failure (n = 36), smooth muscle spasm (n = 24), thromboembolism (n = 20), and pulmonary hypertension (n = 15). The median (range) duration of eculizumab treatment was 52.7 (1.0, 127.3) months (338.6 total treated patient-years). Despite high disease activity in the study population before treatment initiation, overall survival was 96.2% and LDH levels were stabilized in most patients during treatment. PNH-related complications at treatment initiation were resolved in 44.4% of patients with renal failure, 95.8% with smooth muscle spasm, 70.0% with thromboembolism, and 26.7% with pulmonary hypertension. Extravascular hemolysis occurred in 28.8% of patients (n = 23; 0.09 per patient-year) and breakthrough hemolysis in 18.8% (n = 15; 0.06 per patient-year). No treatment discontinuation cases related to eculizumab were observed. Conclusion These data provided evidence for the long-term efficacy and safety of eculizumab in Korean PNH patients with high disease burdens.

Objectives: The aim of this study was to evaluate dizziness in patients with sleep disorders, objectively identify vestibular function through the vestibulo-ocular reflex (VOR) using the video Head Impulse Test (vHIT), and evaluate the association between these findings. Methods: Among the patients who visited the sleep clinic from June to October 2021, 69 who underwent both polysomnography (PSG) and vHIT were included. Participants completed questionnaires including the Dizziness Handicap Inventory (DHI), Beck Anxiety Inventory, Korean-Beck Depression Inventory-II, Epworth Sleepiness Scale, Insomnia Severity Index (ISI), and Pittsburgh Sleep Quality Index (PSQI). The subjects were classified into four groups: insomnia (n=4), rapid eye movement sleep behavior disorder (RBD) (n=13), obstructive sleep apnea syndrome (OSAS) (n=34), and RBD and OSAS (n=18). Moderate to severe OSAS (n=49) was compared with no OSAS and mild OSAS (n=20). Results: In comparison of the four groups according to sleep disorders, the OSAS patients showed the highest DHI scores and the lowest VOR gain, but statistical significance was not found. Although all VOR gains were within the normal range, the VOR gain of the left posterior semicircular canal was significantly lower in the moderate to severe OSA group than in the no OSA and mild OSA groups (1.02±0.18 vs. 0.94±0.10, p=0.019). DHI total scores showed no correlation with VOR gain but showed a positive correlation with ISI (r=0.422, p=0.001) and PSQI (r=0.287, p=0.022). Among PSG parameters, lowest oxygen saturation (SaO2) and percentage of time with SaO2 less than 90% were correlated with the emotional score of DHI (r=-0.245, p=0.043 and r=0.311, p=0.010, respectively). Conclusions Although our study could not objectively confirm vestibular dysfunction in patients with sleep disorders, we found that subjective sleep complaints were associated with dizziness and hypoxic conditions during sleep were associated with emotional aspects of dizziness. This suggests that the treatment of concomitant sleep disorders may improve dizziness.

Background: Gaucher disease (GD) is an autosomal recessive disorder characterized by excessive accumulation of glucosylceramide in multiple organs. This study was performed to determine the detection rate of GD in a selected patient population with unexplained splenomegaly in Korea. Methods: This was a multicenter, observational study conducted at 18 sites in Korea between December 2016 and February 2020. Adult patients with unexplained splenomegaly were enrolled and tested for β-glucosidase enzyme activity on dried blood spots (DBS) and in peripheral blood leukocytes. Mutation analysis was performed if the test was positive or indeterminate for the enzyme assay. The primary endpoint was the percentage of patients with GD in patients with unexplained splenomegaly. Results: A total of 352 patients were enrolled in this study (male patients, 199; mean age, 48.42 yr). Amongst them, 14.77% of patients had concomitant hepatomegaly. The most common sign related to GD was splenomegaly (100%), followed by thrombocytopenia (44.32%) and, anemia (40.91%). The β-glucosidase activity assay on DBS and peripheral leukocytes showed abnormal results in sixteen and six patients, respectively. Eight patients were tested for the mutation, seven of whom were negative and one patient showed a positive mutation analysis result. One female patient who presented with splenomegaly and thrombocytopenia was diagnosed with type 1 GD. The detection rate of GD was 0.2841% (exact 95% CI, 0.0072‒). Conclusion The detection rate of GD in probable high-risk patients in Korea was lower than expected.However, the role of hemato-oncologists is still important in the diagnosis of GD.