Background: Genetic alterations play a pivotal role in multiple myeloma (MM) development and therapeutic resistance. Traditionally, the genetic profiling of MM requires invasive bone marrow (BM) procedures; however, these procedures are associated with patient discomfort and cannot fully capture the spatial and temporal heterogeneity of the disease.Therefore, we investigated the clinical implications of liquid biopsy using targeted deep sequencing. Methods: We analyzed the genetic profiles of circulating tumor DNA (ctDNA) by targeted deep sequencing from 102 patients, including those with monoclonal gammopathy of undetermined significance (MGUS, N = 7), smoldering MM (N = 6), and symptomatic MM (N = 89). Results: The number of ctDNA mutations increased with disease progression from MGUS to MM, with averages of 1.0 mutations in MGUS, 1.8 mutations in smoldering MM, and 1.9 mutations in MM, respectively. Shared mutations between BM and ctDNA were more prevalent in MM (68.9%) than in MGUS (25.0%). RAS/RAF and TP53 mutations were significantly enriched in MM ctDNA. Specific mutations were associated with clinical features in patients with MM: hypercalcemia and TET2 (P = 0.006), renal insufficiency and NRAS (P = 0.012), paramedullary myeloma and TP53(P = 0.02), and extramedullary myeloma and NRAS (P = 0.007). TET2 mutations significantly affected 2-yr progression-free survival (hazard ratio = 7.11, P = 0.003). Serial ctDNA profiling accurately predicted treatment response in patients with MM. Conclusions Our findings highlight the potential of liquid biopsy for understanding MM progression and prognosis utilizing a minimally invasive approach, paving the way for its integration into personalized treatment strategies and real-time disease monitoring.

Differentiated thyroid cancer demonstrates a wide range of clinical presentations, from very indolent cases to those with an aggressive prognosis. Therefore, diagnosing and treating each cancer appropriately based on its risk status is important. The Korean Thyroid Association (KTA) has provided and amended the clinical guidelines for thyroid cancer management since 2007. The main changes in this revised 2024 guideline include 1) individualization of surgical extent according to pathological tests and clinical findings, 2) application of active surveillance in low-risk papillary thyroid microcarcinoma, 3) indications for minimally invasive surgery, 4) adoption of World Health Organization pathological diagnostic criteria and definition of terminology in Korean, 5) update on literature evidence of recurrence risk for initial risk stratification, 6) addition of the role of molecular testing, 7) addition of definition of initial risk stratification and targeting thyroid stimulating hormone (TSH) concentrations according to ongoing risk stratification (ORS), 8) addition of treatment of perioperative hypoparathyroidism, 9) update on systemic chemotherapy, and 10) addition of treatment for pediatric patients with thyroid cancer.

Background: Topical corticosteroids (TCs) are available both as over-the-counter drugs and prescription medicines at pharmacies.Although they are generally safe drugs, inappropriate and excessive use could result in potential side effects. Thus, it is important to have appropriate knowledge regarding the use of TCs. We performed a cross-sectional survey to assess public knowledge and the potential misuse or overuse of TCs. Methods: A cross-sectional and nationwide online survey was conducted among participants who were aware of TCs. The survey items included sources of information, indications, potential side effects, and methods of application of TCs. A comparative analysis was conducted between those with (TC users) and without (TC non-users) an experience of using TCs. Results: Among 3,000 participants, 74.4% were TC users. The mass media was the most common information source of TCs, and only one-third of the surveyed people relied on pharmacists or doctors for information. Regarding indications and application methods, incorrect answer rate was high in some items, but respondents showed adequate knowledge. However, awareness of the safety of TCs was low. Overall, the TC users showed a higher knowledge of TCs than TC non-users. Conclusions Public knowledge of the use of TCs appears to be appropriate. However, we found potential misuse or overuse of some items and a lack of awareness of the side effects concerning TCs. Thus, healthcare professionals’ significant role is required.

Influenza A virus (IAV) is the most widespread pathogen causing human respiratory infections. Although polymerase chain reaction (PCR)–based methods are currently the mostcommonly used tools for IAV detection, PCR is not ideal for point-of-care testing. In thisstudy, we aimed to develop a more rapid and sensitive method than PCR-based tools todetect IAV using loop-mediated isothermal amplification (LAMP) technology. We designedreverse-transcriptional (RT)–LAMP primers targeting the hemagglutinin gene. RNAs fromreference H1N1 and H3N2 showed specific RT-LAMP signals with the designed primers.We optimized the reaction conditions and developed universal reaction conditions for bothLAMP assays. Under these conditions, the detection limit was 50 copies for both RT-LAMPassays. There was no non-specific signal to 19 non-IAV respiratory viruses, such as influenza B virus, coronaviruses, and respiratory syncytial viruses. Regarding the reaction time, apositive signal was detected within 25 min after starting the reaction. In conclusion, ourRT-LAMP assay has high sensitivity and specificity for the detection of the H1 and H3 subtypes, making it suitable for point-of-care IAV testing.

Background/Aims: To investigate if BK virus (BKV)-specific T cell immunity measured by an interferon-γ enzyme-linked immunospot (ELISPOT) assay can predict the outcome of BK virus infection in kidney transplant recipients (KTRs). Methods: We included 68 KTRs with different viremia status (no viremia [n = 17], BK viremia [n = 27], and cleared viremia [n = 24]) and 44 healthy controls (HCs). The BK viremia group was divided into controller (< 3 months) and noncontroller (> 3 months) according to sustained duration of BKV infection. We compared BKV-ELISPOT results against five BKV peptides (large tumor antigen [LT], St, VP1-3). Results: BKV-ELISPOT results were higher in three KTRs groups with different BKV infection status than the HCs group (p < 0.05). In KTR groups, they were higher in cleared viremia group than no viremia or BK viremia group. Within the BK viremia group, controller group had higher LT-ELISPOT results compared to noncontroller group (p = 0.032). Also, KTRs without BK virus-associated nephropathy (BKVN) had higher LT, St, VP1, and VP2-ELISPOT results than those with BKVN (p < 0.05). Conclusions BKV-ELISPOT assay may be effective in predicting clinical outcomes of BKV infection in terms of clearance of BK virus and development of BKVN.

Rituximab is a monoclonal antibody used for the treatment of B-cell malignancies, including diffuse large B-cell lymphoma. Infusion-related hypersensitivity reactions to rituximab is well known, and delayed hypersensitivity reactions to rituximab are also reported. Desensitization is commonly used to prevent immediate hypersensitivity reactions, but recently there have been cases of successful desensitization therapy for delayed hypersensitivity reactions. A 66-year-old patient who underwent rituximab treatment for diffuse large B-cell lymphoma showed repeated rituximab-induced delayed hypersensitivity reactions with whole body rashes. Intravenous rapid desensitization was performed by using a 1-bottle, 11-step protocol for 6 cycles and thereafter hypersensitivity reaction did not recur. We herein reported a case of delayed hypersensitivity reaction caused by rituximab, which was successfully desensitized using our 11-step protocol.
Aged ; B-Lymphocytes ; Desensitization, Immunologic ; Exanthema ; Humans ; Hypersensitivity ; Hypersensitivity, Delayed ; Hypersensitivity, Immediate ; Lymphoma, B-Cell ; Rituximab

Ceramide metabolism is known to be an essential etiology for various diseases, such as atopic dermatitis and Gaucher disease. Glucosylceramide synthase (GCS) is a key enzyme for the synthesis of glucosylceramide (GlcCer), which is a main ceramide metabolism pathway in mammalian cells. In this article, we developed a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method to determine GCS activity using synthetic non-natural sphingolipid C8-ceramide as a substrate. The reaction products, C8-GlcCer for GCS, could be separated on a C18 column by reverse-phase high-performance liquid chromatography (HPLC). Quantification was conducted using the multiple reaction monitoring (MRM) mode to monitor the precursor-to-product ion transitions of m/z 588.6 → 264.4 for C8-GlcCer at positive ionization mode. The calibration curve was established over the range of 0.625–160 ng/mL, and the correlation coefficient was larger than 0.999. This method was successfully applied to detect GCS in the human hepatocellular carcinoma cell line (HepG2 cells) and mouse peripheral blood mononuclear cells. We also evaluated the inhibition degree of a known GCS inhibitor 1-phenyl-2-decanoylamino-3-morpholino-1-propanol (PDMP) on GCS enzymatic activity and proved that this method could be successfully applied to GCS inhibitor screening of preventive and therapeutic drugs for ceramide metabolism diseases, such as atopic dermatitis and Gaucher disease.
Animals ; Calibration ; Carcinoma, Hepatocellular ; Cell Line ; Chromatography, Liquid ; Dermatitis, Atopic ; Gaucher Disease ; Humans ; Mass Screening ; Mass Spectrometry ; Metabolism ; Methods ; Mice

Lymphoproliferative disorder in a posttransplant setting has emerged as a difficult problem in kidney transplantation (KT). Lymphoma involving adnexa of the eye has rarely been reported due to scarcity of lymphoreticular tissue in the ocular area. This report presents a case of a 37-year-old KT recipient who was diagnosed with conjunctival mucosa-associated lymphoid tissue lymphoma with a chief complaint of seeing black spots. Unlike other post-transplant lymphoproliferative diseases associated with the Epstein-Barr virus (EBV) reactivation via immunosuppression, the lesion was not related to the virus. The patient received radiotherapy with concomitant conversion from the tacrolimus to the sirolimus. Overall, the results presented herein indicate lymphoma may be an important differential diagnosis when KT recipients complain of ocular discomfort.
Adult ; Diagnosis, Differential ; Herpesvirus 4, Human ; Humans ; Immunosuppression ; Kidney Transplantation ; Kidney* ; Lymphoid Tissue* ; Lymphoma* ; Lymphoma, B-Cell, Marginal Zone ; Lymphoproliferative Disorders ; Radiotherapy ; Sirolimus ; Tacrolimus ; Transplant Recipients*

No abstract available.
Herpesvirus 8, Human* ; Humans* ; Kidney Transplantation ; Lymphohistiocytosis, Hemophagocytic* ; Sarcoma, Kaposi* ; Transplant Recipients*

BACKGROUND: Successful pregnancy outcomes in patients with advanced chronic kidney disease (CKD) are increasingly common in Western countries. However, in Korea, the available literature addressing this clinical issue is scarce. METHODS: We reviewed 5 successful parturitions [1 patient with Stage 5 CKD and 4 with maintenance hemodialysis (HD)] at Seoul St. Mary's Hospital over 3 years and investigated changes in dialysis prescription, anemia management, and the incidence of maternal and neonatal complications. RESULTS: There were no maternal or neonatal deaths in this cohort. The mean age at the time of conception and delivery was 35.8 ± 3.7 and 36.2 ± 3.5 years, respectively. Dialysis patients received more frequent and intensified HD during pregnancy, 20.0 ± 5.7 h/wk of HD over 5 visits with the ultrafiltration dose maintained between 1 and 2 kg per session. All patients received erythropoietin-stimulating agents and iron replacement therapy during pregnancy. The mean hematocrit was 33.1 ± 1.9% before pregnancy and was well maintained during gestation (33.9 ± 3.8% at the first trimester, 29.2 ± 4.2% at the second trimester, and 33.6 ± 8.7% at delivery). The mean gestation period was 32.7 ± 4.7 weeks, with 60% of patients experiencing premature delivery. The primary maternal complication was pre-eclampsia; 3 women developed pre-eclampsia and underwent emergency cesarean sections. Most neonatal complications were related to preterm birth. CONCLUSION: Dialysis-related care and general clinical management improved the clinical outcome of pregnancy for patients with advanced CKD.
Anemia ; Cesarean Section ; Cohort Studies ; Dialysis ; Emergencies ; Female ; Fertilization ; Hematocrit ; Humans ; Incidence ; Iron ; Korea ; Parturition ; Perinatal Death ; Pre-Eclampsia ; Pregnancy ; Pregnancy Outcome ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Pregnant Women* ; Premature Birth ; Prescriptions ; Renal Dialysis ; Renal Insufficiency, Chronic* ; Seoul ; Ultrafiltration