Background: and Purpose The risk factors for developing epilepsy following febrile convulsion (FC) have been studied extensively, but the underlying genetic components remain largely unexplored. Our objective here was to identify the risk loci related to FC through a genomewide association study of Korean epilepsy patients. Methods: We examined associations between a history of FC and single-nucleotide polymorphisms (SNPs) in data obtained from 125 patients with focal epilepsy: 28 with an FC history and 97 without an FC history. Results: Among 288,394 SNPs, 5 candidate SNPs showed p<1×10-4 . Regional association plots of these SNPs identified a novel locus adjacent to PROX1 that is implicated in hippocampal neurogenesis and epileptogenesis. The allele frequencies of the SNPs upstream of PROX1 including two candidate SNPs (rs1159179 and rs7554295 on chromosome 1) differed significantly between the groups with and without an FC history. In contrast, the allele frequencies of the SNPs inside PROX1 showed no differences, indicating dysregulated expression of PROX1 rather than a functional alteration in the PROX1 protein. Conclusions This novel discovery of SNPs upstream of PROX1 suggests that the dysregulated expression of PROX1 contributes to the development of focal epilepsy following FC. We propose that these SNPs are potential genetic markers for focal epilepsy following FC, and that PROX1 represents a potential therapeutic target of antiseizure medications.

Purpose: This multicenter, open-label, phase II trial evaluated the efficacy and safety of bortezomib combined with dexamethasone for the treatment of relapsed/refractory cutaneous T-cell lymphoma (CTCL) in previously treated patients across 14 institutions in South Korea. Materials and Methods: Between September 2017 and July 2020, 29 patients with histologically confirmed CTCL received treatment, consisting of eight 4-week cycles of induction therapy followed by maintenance therapy, contingent upon response, for up to one year. The primary endpoint was the proportion of patients achieving an objective global response. Results: Thirteen of the 29 patients (44.8%) achieved an objective global response, including two complete responses. The median progression-free survival (PFS) was 5.8 months, with responders showing a median PFS of 14.0 months. Treatment-emergent adverse events were generally mild, with a low incidence of peripheral neuropathy and hematologic toxicities. Despite the trend toward shorter PFS in patients with higher mutation burdens, genomic profiling before and after treatment showed no significant emergence of new mutations indicative of disease progression. Conclusion This study supports the use of bortezomib and dexamethasone as a viable and safe treatment option for previously treated CTCL, demonstrating substantial efficacy and manageability in adverse effects. Further research with a larger cohort is suggested to validate these findings and explore the prognostic value of mutation profiles.

Purpose: This multicenter, open-label, phase II trial evaluated the efficacy and safety of bortezomib combined with dexamethasone for the treatment of relapsed/refractory cutaneous T-cell lymphoma (CTCL) in previously treated patients across 14 institutions in South Korea. Materials and Methods: Between September 2017 and July 2020, 29 patients with histologically confirmed CTCL received treatment, consisting of eight 4-week cycles of induction therapy followed by maintenance therapy, contingent upon response, for up to one year. The primary endpoint was the proportion of patients achieving an objective global response. Results: Thirteen of the 29 patients (44.8%) achieved an objective global response, including two complete responses. The median progression-free survival (PFS) was 5.8 months, with responders showing a median PFS of 14.0 months. Treatment-emergent adverse events were generally mild, with a low incidence of peripheral neuropathy and hematologic toxicities. Despite the trend toward shorter PFS in patients with higher mutation burdens, genomic profiling before and after treatment showed no significant emergence of new mutations indicative of disease progression. Conclusion This study supports the use of bortezomib and dexamethasone as a viable and safe treatment option for previously treated CTCL, demonstrating substantial efficacy and manageability in adverse effects. Further research with a larger cohort is suggested to validate these findings and explore the prognostic value of mutation profiles.

Background: and Purpose The risk factors for developing epilepsy following febrile convulsion (FC) have been studied extensively, but the underlying genetic components remain largely unexplored. Our objective here was to identify the risk loci related to FC through a genomewide association study of Korean epilepsy patients. Methods: We examined associations between a history of FC and single-nucleotide polymorphisms (SNPs) in data obtained from 125 patients with focal epilepsy: 28 with an FC history and 97 without an FC history. Results: Among 288,394 SNPs, 5 candidate SNPs showed p<1×10-4 . Regional association plots of these SNPs identified a novel locus adjacent to PROX1 that is implicated in hippocampal neurogenesis and epileptogenesis. The allele frequencies of the SNPs upstream of PROX1 including two candidate SNPs (rs1159179 and rs7554295 on chromosome 1) differed significantly between the groups with and without an FC history. In contrast, the allele frequencies of the SNPs inside PROX1 showed no differences, indicating dysregulated expression of PROX1 rather than a functional alteration in the PROX1 protein. Conclusions This novel discovery of SNPs upstream of PROX1 suggests that the dysregulated expression of PROX1 contributes to the development of focal epilepsy following FC. We propose that these SNPs are potential genetic markers for focal epilepsy following FC, and that PROX1 represents a potential therapeutic target of antiseizure medications.

Background: and Purpose The risk factors for developing epilepsy following febrile convulsion (FC) have been studied extensively, but the underlying genetic components remain largely unexplored. Our objective here was to identify the risk loci related to FC through a genomewide association study of Korean epilepsy patients. Methods: We examined associations between a history of FC and single-nucleotide polymorphisms (SNPs) in data obtained from 125 patients with focal epilepsy: 28 with an FC history and 97 without an FC history. Results: Among 288,394 SNPs, 5 candidate SNPs showed p<1×10-4 . Regional association plots of these SNPs identified a novel locus adjacent to PROX1 that is implicated in hippocampal neurogenesis and epileptogenesis. The allele frequencies of the SNPs upstream of PROX1 including two candidate SNPs (rs1159179 and rs7554295 on chromosome 1) differed significantly between the groups with and without an FC history. In contrast, the allele frequencies of the SNPs inside PROX1 showed no differences, indicating dysregulated expression of PROX1 rather than a functional alteration in the PROX1 protein. Conclusions This novel discovery of SNPs upstream of PROX1 suggests that the dysregulated expression of PROX1 contributes to the development of focal epilepsy following FC. We propose that these SNPs are potential genetic markers for focal epilepsy following FC, and that PROX1 represents a potential therapeutic target of antiseizure medications.

Purpose: This multicenter, open-label, phase II trial evaluated the efficacy and safety of bortezomib combined with dexamethasone for the treatment of relapsed/refractory cutaneous T-cell lymphoma (CTCL) in previously treated patients across 14 institutions in South Korea. Materials and Methods: Between September 2017 and July 2020, 29 patients with histologically confirmed CTCL received treatment, consisting of eight 4-week cycles of induction therapy followed by maintenance therapy, contingent upon response, for up to one year. The primary endpoint was the proportion of patients achieving an objective global response. Results: Thirteen of the 29 patients (44.8%) achieved an objective global response, including two complete responses. The median progression-free survival (PFS) was 5.8 months, with responders showing a median PFS of 14.0 months. Treatment-emergent adverse events were generally mild, with a low incidence of peripheral neuropathy and hematologic toxicities. Despite the trend toward shorter PFS in patients with higher mutation burdens, genomic profiling before and after treatment showed no significant emergence of new mutations indicative of disease progression. Conclusion This study supports the use of bortezomib and dexamethasone as a viable and safe treatment option for previously treated CTCL, demonstrating substantial efficacy and manageability in adverse effects. Further research with a larger cohort is suggested to validate these findings and explore the prognostic value of mutation profiles.

Background: Endocrine-disrupting chemicals (EDCs) are environmental pollutants that may impair maternal and fetal health by disrupting hormonal systems, including the thyroid. Both iodine deficiency and excess are associated with thyroid dysfunction and adverse obstetrical outcomes. However, the combined impacts of EDCs and iodine exposure on maternal-fetal thyroid homeostasis remain undetermined. We established the Investigating Birth and Thyroid Outcomes of Maternal-Fetal Environmental Exposures (IBM-E) cohort to prospectively assess the effects of maternal exposures to dietary iodine and EDCs on thyroid function, pregnancy complications, and offspring growth and development. Methods: In this prospective observational study, we aim to enroll 556 pregnant women between 2024 and 2027 at a tertiary hospital in Korea. Maternal blood and urine samples will be collected at six time points, spanning from early pregnancy through 15 months postpartum, with infant samples collected at three time points. EDCs will be quantified using ultra-high performance liquid chromatography-tandem mass spectrometry. Thyroid function and urinary iodine concentration will be measured in both mothers and infants. Results: As of the current interim analyses of 193 mothers and 229 neonates, 15.0% of mothers had thyroid dysfunction and 11.4% developed preeclampsia. Preterm birth occurred in 23.8% of cases, and 16.6% of neonates were small for gestational age. Conclusion The IBM-E cohort is designed to enable the longitudinal assessment of gestational environmental exposures and their potential impacts on maternal and fetal thyroid function, as well as pregnancy and neonatal outcomes. The findings of this study may inform preventive strategies and guide policy development in perinatal environmental health.

Hypervirulent Klebsiella pneumoniae (hvKp) infections are being increasingly reported globally, and cause severe central nervous system (CNS) and multiorgan infections even in immunocompetent individuals. The recent emergence of hvKp antibiotic resistance has generated escalating concern about effective infection control for this potentially neuroinvasive pathogen. Herein, we report two cases of Klebsiella pneumoniae-related CNS infection, including one patient with antimicrobial-resistant hvKp, confirmed by string test that demonstrated a hypermucoviscous phenotype.

Background/Aims: Coronavirus 2019 (COVID-19) accelerated the importance of online learning in the field of medical education.This study compared the impact of online lectures on abdominal ultrasonography (USG) with that of offline lectures and assessed the efficacy of abdominal USG lectures for internal medicine (IM) residents and gastroenterology (GI) fellows. Methods: A 30-minute lecture on upper abdominal USG was delivered online or offline, and a test with 39 short-answer questions was conducted before and after the lecture. Results: The study population included 25 physicians (13 IM residents and 12 GI fellows) in the online group and 23 (20 IM residents, three GI fellows) in the offline group. The rates of USG education experience for online and offline groups were 64.0% and 69.6%, respectively (p=0.919). A significant increase in the test scores was observed after a one-time USG lecture in IM residents in both the online and offline, as well as GI fellows in the online (p<0.0001, <0.0001, and p=0.004, respectively). In addition, the delta scores were similar in the online and offline after a one-time lecture (8.8±4.3 vs. 7.8±3.7, respectively; p=0.406). A comparison of the delta-scores of the IM resident and GI fellow showed no significant difference within either the online or offline (9.0±4.5 vs. 8.4±3.6, p=0.927; 7.3±3.8 vs. 7.3±3.0, p=0.985). Conclusions The effectiveness of online USG lectures was comparable to that of offline lectures. In addition, a 30-minute, one-time abdominal USG lecture provided value to IM residents and GI fellows.

Background/Aims: Coronavirus 2019 (COVID-19) accelerated the importance of online learning in the field of medical education.This study compared the impact of online lectures on abdominal ultrasonography (USG) with that of offline lectures and assessed the efficacy of abdominal USG lectures for internal medicine (IM) residents and gastroenterology (GI) fellows. Methods: A 30-minute lecture on upper abdominal USG was delivered online or offline, and a test with 39 short-answer questions was conducted before and after the lecture. Results: The study population included 25 physicians (13 IM residents and 12 GI fellows) in the online group and 23 (20 IM residents, three GI fellows) in the offline group. The rates of USG education experience for online and offline groups were 64.0% and 69.6%, respectively (p=0.919). A significant increase in the test scores was observed after a one-time USG lecture in IM residents in both the online and offline, as well as GI fellows in the online (p<0.0001, <0.0001, and p=0.004, respectively). In addition, the delta scores were similar in the online and offline after a one-time lecture (8.8±4.3 vs. 7.8±3.7, respectively; p=0.406). A comparison of the delta-scores of the IM resident and GI fellow showed no significant difference within either the online or offline (9.0±4.5 vs. 8.4±3.6, p=0.927; 7.3±3.8 vs. 7.3±3.0, p=0.985). Conclusions The effectiveness of online USG lectures was comparable to that of offline lectures. In addition, a 30-minute, one-time abdominal USG lecture provided value to IM residents and GI fellows.