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.

Prototheca wickerhamii is an achlorophyllic algae that rarely acts as an opportunistic pathogen in humans. We report the case of a 66-year-old female patient with a history of diabetes mellitus who presented with a pus-like discharge from face, facial redness, and swelling. The patient was admitted to the emergency room with worsening facial pain. Gram staining from pus-like discharge revealed yeast like features; however, an isolated colony on a blood agar plate was not identified using VITEK 2 (Biomerieux) or matrix-assisted laser desorption/ionization time-of flight mass spectrometry (MALDI-TOF) using VITEK MS (Biomerieux). Lactophenol cotton blue staining of the colony revealed characteristic sporangia and endospore features. After performing the protein extraction procedure for filamentous fungi (mold) isolates using ethanol and formic acid, MALDI-TOF MS identified the colony as Prototheca wickerhamii, with 99.9% confidence. This case indicates that Prototheca spp.require specialized sample preparation steps, such as the ethanol/formic acid extraction procedure, for identification using MALDI-TOF MS.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Objective: Classification guides the surgical approach and predicts prognosis. However, existing classifications of spinal schwannomas often result in a high ‘unclassified’ rate. Here, we aim to develop a new comprehensive classification for spinal schwannomas based on their presumed origin. We compared the new classification with the existing classifications regarding the rate of ‘unclassified’. Finally, we assessed the surgical strategies, outcomes, and complications according to each type of the new classification. Methods: A new classification with 9 types was created by analyzing the anatomy of spinal nerves and the origin of significant tumor portions and cystic components in preoperative magnetic resonance images. A total of 482 patients with spinal schwannomas were analyzed to compare our new classification with the existing classifications. We defined ‘unclassified’ as the inability to classify a patient with spinal schwannoma using the classification criteria. Surgical approaches and outcomes were also aligned with our new classification. Results: Our classification uniquely reported no ‘unclassified’ cases, indicating full applicability. Also, the classification has demonstrated usefulness in predicting the surgical outcome with the approach planned. Gross total removal rates reached 88.0% overall, with type 1 and type 2 tumors at 95.3% and 96.0% respectively. The approach varied with tumor type, with laminectomy predominantly used for types 1, 2, and 9, and facetectomy with posterior fixation used for type 3 tumors. Conclusion The new classification for spinal schwannomas based on presumed origin is applicable to all spinal schwannomas. It could help plan a surgical approach and predict its outcome, compared with existing classifications.

Objective: Classification guides the surgical approach and predicts prognosis. However, existing classifications of spinal schwannomas often result in a high ‘unclassified’ rate. Here, we aim to develop a new comprehensive classification for spinal schwannomas based on their presumed origin. We compared the new classification with the existing classifications regarding the rate of ‘unclassified’. Finally, we assessed the surgical strategies, outcomes, and complications according to each type of the new classification. Methods: A new classification with 9 types was created by analyzing the anatomy of spinal nerves and the origin of significant tumor portions and cystic components in preoperative magnetic resonance images. A total of 482 patients with spinal schwannomas were analyzed to compare our new classification with the existing classifications. We defined ‘unclassified’ as the inability to classify a patient with spinal schwannoma using the classification criteria. Surgical approaches and outcomes were also aligned with our new classification. Results: Our classification uniquely reported no ‘unclassified’ cases, indicating full applicability. Also, the classification has demonstrated usefulness in predicting the surgical outcome with the approach planned. Gross total removal rates reached 88.0% overall, with type 1 and type 2 tumors at 95.3% and 96.0% respectively. The approach varied with tumor type, with laminectomy predominantly used for types 1, 2, and 9, and facetectomy with posterior fixation used for type 3 tumors. Conclusion The new classification for spinal schwannomas based on presumed origin is applicable to all spinal schwannomas. It could help plan a surgical approach and predict its outcome, compared with existing classifications.

Background: Tuberculosis (TB) survivors have an increased risk of developing chronic obstructive pulmonary disease (COPD). This study assessed the risk of COPD development and COPD-related hospitalization in TB survivors compared to controls. Methods: We conducted a population-based cohort study of TB survivors and 1:1 age- and sex-matched controls using data from the Korean National Health Insurance Service database collected from 2010 to 2017. We compared the risk of COPD development and COPD-related hospitalization between TB survivors and controls. Results: Of the subjects, 9.6% developed COPD, and 2.8% experienced COPD-related hospitalization. TB survivors had significantly higher COPD incidence rates (36.7/1,000 vs. 18.8/1,000 person-years, P < 0.001) and COPD-related hospitalization (10.7/1,000 vs.4.3/1,000 person-years, P < 0.001) than controls. Multivariable Cox regression analyses revealed higher risks of COPD development (adjusted hazard ratio [aHR], 1.63; 95% confidence interval [CI], 1.54–1.73) and COPD-related hospitalization (aHR, 2.03; 95% CI, 1.81–2.27) in TB survivors. Among those who developed COPD, the hospitalization rate was higher in individuals with post-TB COPD compared to those with non-TB COPD (10.7/1,000 vs. 4.9/1,000 person-years, P < 0.001), showing an increased risk of COPD-related hospitalization (aHR, 1.84; 95% CI, 1.17–2.92). Conclusion TB survivors had higher risks of incident COPD and COPD-related hospitalization compared to controls. These results suggest that previous TB is an important COPD etiology associated with COPD-related hospitalization.

Background and Objectives: Blood pressure (BP) measurement using an auscultatory sphygmomanometer is recommended for diagnosing hypertension in children. As mercury sphygmomanometers (MSs) are banned owing to environmental concerns, it is crucial to determine the accuracy of mercury-free sphygmomanometers to replace them. We analyzed the accuracy of these devices to guide the National Survey selection. Methods: BP was measured thrice each with MS, auscultatory device (AD), and oscillometric device (OD) in 104 participants aged 10–18 using the National Survey data. The difference in BP was defined as the difference between MS and other devices. The BP differences, correlations, and influencing factors were analyzed. The frequencies of hypertension were also compared. Results: Systolic BP (SBP) and diastolic BP (DBP) differences between MS and AD were 0.88±3.36 mmHg and 0.63±3.95 mmHg, and those between MS and OD were 0.43±5.83 mmHg and 4.57±6.89 mmHg, respectively. The absolute error of <10 mmHg for DBP between MS and OD was 76%. The concordance correlation coefficient between MS and AD was 0.94 for SBP and 0.90 for DBP, and 0.81 and 0.67, respectively for MS and OD. Arm circumference negatively correlated with BP differences except for SBP between the MS and OD. The frequency of hypertension was not different between MS and AD but was underestimated by OD. Conclusions AD correlated well with MS, while OD did not, especially for DBP. The superiority of AD over OD suggests AD as a possible alternative for MS in the National Survey.

We previously reported that leukotriene B4 (LTB4) contained in Trichomonas vaginalis-derived secretory products (TvSP) play an essential role in interleukin-8 (IL-8) production in human mast cell line (HMC-1 cells) via LTB4 receptor (BLT)-mediated Nuclear Factor-kappa B (NF-кB) activation. Dynamin, a GTPase, has been known to be involved in endocytosis of receptors for signaling of production of cytokine or chemokines. In the present study, we investigated the role of dynamin-mediated BLT1 endocytosis in TvSP-induced IL-8 production. When HMC-1 cells were transfected with BLT1 or BLT2 siRNA, TvSP-induced IL-8 production was significantly inhibited compared with that in cells transfected with control siRNA. In addition, pretreatment of HMC-1 cells with a dynamin inhibitor (Dynasore) reduced IL-8 production induced by TvSP or LTB4. TvSP- or LTB4- induced phosphorylation of NF-кB was also attenuated by pretreatment with Dynasore. After exposing HMC-1 cells to TvSP or LTB4, BLT1 was translocated from the intracellular compartments to the plasma membrane within 30 min. At 60 min after stimulation with TvSP or LTB4, BLT1 remigrated from the cell surface to intracellular areas. Pretreatment of HMC-1 cells with dynamin-2 siRNA blocked internalization of BLT1 induced by TvSP or LTB4. Co-immunoprecipitation experiments revealed that dynamin-2 strongly interacted with BLT1 60 min after stimulation with TvSP or LTB4. These results suggest that T. vaginalis-secreted LTB4 induces IL-8 production in HMC-1 cells via dynamin 2-mediated endocytosis of BLT1 and phosphorylation of NF-кB.

Trichomoniasis is caused by a sexually transmitted flagellate protozoan parasite Trichomonas vaginalis. T. vaginalis-derived secretory products (TvSP) contain lipid mediators such as leukotriene B4 (LTB4) and various cysteinyl leukotrienes (CysLTs) which included LTC4, LTD4, and LTE4. However, the signaling mechanisms by which T. vaginalis-induced CysLTs stimulate interleukin (IL)-8 production in human mast cells remain unclear. In this study, we investigated these mechanisms in human mast cells (HMC-1). Stimulation with TvSP resulted in increased intracellular reactive oxygen species (ROS) generation and NADPH oxidase 2 (NOX2) activation compared to unstimulated cells. Pre-treatment with NOX2 inhibitors such as diphenyleneiodonium chloride (DPI) or apocynin significantly reduced ROS production in TvSP-stimulated HMC-1 cells. Additionally, TvSP stimulation increased NOX2 protein expression and the translocation of p47phox from the cytosol to the membrane. Pretreatment of HMC-1 cells with PI3K or PKC inhibitors reduced TvSP-induced p47phox translocation and ROS generation. Furthermore, NOX2 inhibitors or NOX2 siRNA prevented CREB phosphorylation and IL-8 gene expression or protein secretion induced by TvSP. Pretreatment with a CysLTR antagonist significantly inhibited TvSP-induced ROS production, CREB phosphorylation, and IL-8 production. These results indicate that CysLT-mediated activation of NOX2 plays a crucial role in ROS-dependent IL-8 production in human mast cells stimulated by T. vaginalis-secreted CysLTs. These findings enhance our understanding of the inflammatory response in trichomoniasis and may inform the development of targeted therapies to mitigate this response.

Background/Aims: Epidermal growth factor receptor (EGFR) mutation is important in determining the treatment strategy for advanced lung cancer patients with malignant pleural effusion (MPE). Contrary to serum carcinoembryonic antigen (S-CEA) levels, the associations between pleural fluid CEA (PF-CEA) levels and EGFR mutation status as well as between PF-CEA levels and treatment efficacy have rarely been investigated in lung adenocarcinoma patients with MPE. Methods: This retrospective study enrolled lung adenocarcinoma patients with MPE and available PF-CEA levels and EGFR mutation results. The patients were categorized based on PF-CEA levels: < 10 ng/mL, 10–100 ng/mL, 100–500 ng/mL, and ≥ 500 ng/mL. The association between PF-CEA levels and EGFR mutation status as well as their therapeutic impact on overall survival was compared among the four groups. Results: This study included 188 patients. PF-CEA level was found to be an independent predictor of EGFR mutation but not S-CEA level. The EGFR mutation rates were higher as the PF-CEA levels increased, regardless of cytology results or sample types. Among EGFR-mutant lung adenocarcinoma patients receiving EGFR-tyrosine kinase inhibitor (TKI) treatment, those with high PF-CEA levels had significantly better survival outcomes than those with low PF-CEA levels. Conclusion High PF-CEA levels were associated with high EGFR mutation rate and may lead to a favorable clinical outcome of EGFR-TKI treatment in EGFR-mutant lung adenocarcinoma patients with MPE. These findings highlight the importance of actively investigating EGFR mutation detection in patients with suspected MPE and elevated PF-CEA levels despite negative cytology results.