1.Identification of de novo BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron Diseases
Hyunkee KIM ; Jung Hyun LEE ; Dongju WON ; Jong Rak CHOI ; Ha Young SHIN ; Seung Hyun KIM
Journal of the Korean Neurological Association 2025;43(1):35-39
Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.
2.Incidence of complicated appendicitis before and after the COVID-19 pandemic: a comparative analysis
Haksoo KIM ; Dongkil JEONG ; Young Soon CHO ; Geum Jong SONG ; Hyung Jun MOON ; Tae Yong SHIN ; Dong Wook LEE ; Hyun Joon KIM ; Hyun Jung LEE ; Sun In HONG
Journal of the Korean Society of Emergency Medicine 2025;36(1):12-19
Objective:
It has been 1 year since the start of the worldwide coronavirus disease-19 (COVID-19) pandemic. This study analyzed the indirect effects of COVID-19 on treating patients with non-infectious diseases by comparing the incidence of complicated appendicitis before and after the pandemic.
Methods:
The target group included patients aged at least 16 years diagnosed with acute appendicitis between February 23 and July 31, 2020. Patients diagnosed during the same period in 2019 were selected as the control group. The differences in the incidence of complicated appendicitis before and after COVID-19 were investigated, and the association with various variables was analyzed using the odds ratios and 95% confidence intervals (CIs).
Results:
The study included 120 subjects in 2019 (pre-COVID group) and 119 cases in 2020 (post-COVID group). The pre-COVID group included 25 cases (20.8%) of complicated appendicitis, while the post-COVID group included 48 cases (40.3%). The median time from symptom onset to visit (pre-hospital time) increased from 15 to 22 hours, and the median time from the visit to surgery (in-hospital time) increased from 7 to 11 hours. Multivariate regression analysis of the three variables revealed odds ratios (95% CIs) of pre-hospital time, erythrocyte sedimentation rate, and inclusion in the post-COVID group of 1.02 (1.01-1.02), 2.07 (1.11-3.86), and 2.15 (1.12-4.11), respectively.
Conclusion
The incidence of complicated appendicitis increased after the COVID-19 pandemic. Therefore, a healthcare system that can minimize the delay in treating non-infectious emergency patients is needed.
3.High-Dose Rifampicin for 3 Months after Culture Conversion for Drug-Susceptible Pulmonary Tuberculosis
Nakwon KWAK ; Joong-Yub KIM ; Hyung-Jun KIM ; Byoung-Soo KWON ; Jae Ho LEE ; Jeongha MOK ; Yong-Soo KWON ; Young Ae KANG ; Youngmok PARK ; Ji Yeon LEE ; Doosoo JEON ; Jung-Kyu LEE ; Jeong Seong YANG ; Jake WHANG ; Kyung Jong KIM ; Young Ran KIM ; Minkyoung CHEON ; Jiwon PARK ; Seokyung HAHN ; Jae-Joon YIM
Tuberculosis and Respiratory Diseases 2025;88(1):170-180
Background:
This study aimed to determine whether a shorter high-dose rifampicin regimen is non-inferior to the standard 6-month tuberculosis regimen.
Methods:
This multicenter, randomized, open-label, non-inferiority trial enrolled participants with respiratory specimen positivity by Xpert MTB/RIF assay or Mycobacterium tuberculosis culture without rifampicin-resistance. Participants were randomized at 1:1 to the investigational or control group. The investigational group received high-dose rifampicin (30 mg/kg/day), isoniazid, and pyrazinamide until culture conversion, followed by high-dose rifampicin and isoniazid for 12 weeks. The control group received the standard 6-month regimen. The primary outcome was the rate of unfavorable outcomes at 18 months post-randomization. The non-inferiority margin was set at <6% difference in unfavorable outcomes rates. The study is registered with ClinicalTrials.gov (NCT04485156)
Results:
Between 4 November 2020 and 3 January 2022, 76 participants were enrolled. Of these, 58 were included in the modified intention-to-treat analysis. Unfavorable outcomes occurred in 10 (31.3%) of 32 in the control group and 10 (38.5%) of 26 in the investigational group. The difference was 7.2% (95% confidence interval, ∞ to 31.9%), failing to prove non-inferiority. Serious adverse events and grade 3 or higher adverse events did not differ between the groups.
Conclusion
The shorter high-dose rifampicin regimen failed to demonstrate non-inferiority but had an acceptable safety profile.
4.Development of a Standardized Suicide Prevention Program for Gatekeeper Intervention in Korea (Suicide CARE Version 2.0) to Prevent Adolescent Suicide: Version for Teachers
Hyeon-Ah LEE ; Yeon Jung LEE ; Kyong Ah KIM ; Myungjae BAIK ; Jong-Woo PAIK ; Jinmi SEOL ; Sang Min LEE ; Eun-Jin LEE ; Haewoo LEE ; Meerae LIM ; Jin Yong JUN ; Seon Wan KI ; Hong Jin JEON ; Sun Jung KWON ; Hwa-Young LEE
Psychiatry Investigation 2025;22(1):117-117
5.High-Dose Rifampicin for 3 Months after Culture Conversion for Drug-Susceptible Pulmonary Tuberculosis
Nakwon KWAK ; Joong-Yub KIM ; Hyung-Jun KIM ; Byoung-Soo KWON ; Jae Ho LEE ; Jeongha MOK ; Yong-Soo KWON ; Young Ae KANG ; Youngmok PARK ; Ji Yeon LEE ; Doosoo JEON ; Jung-Kyu LEE ; Jeong Seong YANG ; Jake WHANG ; Kyung Jong KIM ; Young Ran KIM ; Minkyoung CHEON ; Jiwon PARK ; Seokyung HAHN ; Jae-Joon YIM
Tuberculosis and Respiratory Diseases 2025;88(1):170-180
Background:
This study aimed to determine whether a shorter high-dose rifampicin regimen is non-inferior to the standard 6-month tuberculosis regimen.
Methods:
This multicenter, randomized, open-label, non-inferiority trial enrolled participants with respiratory specimen positivity by Xpert MTB/RIF assay or Mycobacterium tuberculosis culture without rifampicin-resistance. Participants were randomized at 1:1 to the investigational or control group. The investigational group received high-dose rifampicin (30 mg/kg/day), isoniazid, and pyrazinamide until culture conversion, followed by high-dose rifampicin and isoniazid for 12 weeks. The control group received the standard 6-month regimen. The primary outcome was the rate of unfavorable outcomes at 18 months post-randomization. The non-inferiority margin was set at <6% difference in unfavorable outcomes rates. The study is registered with ClinicalTrials.gov (NCT04485156)
Results:
Between 4 November 2020 and 3 January 2022, 76 participants were enrolled. Of these, 58 were included in the modified intention-to-treat analysis. Unfavorable outcomes occurred in 10 (31.3%) of 32 in the control group and 10 (38.5%) of 26 in the investigational group. The difference was 7.2% (95% confidence interval, ∞ to 31.9%), failing to prove non-inferiority. Serious adverse events and grade 3 or higher adverse events did not differ between the groups.
Conclusion
The shorter high-dose rifampicin regimen failed to demonstrate non-inferiority but had an acceptable safety profile.
7.Switch to Rosuvastatin Plus Ezetimibe From Statin Monotherapy to Achieve Target LDL-Cholesterol Goal: A Multi-Center, Open-Label, Single-Arm Trial
Hong-Kyun PARK ; Jong-Ho PARK ; Hee-Kwon PARK ; Kyusik KANG ; Keun-Hwa JUNG ; Beom Joon KIM ; Jin-Man JUNG ; Young Seo KIM ; Yong-Seok LEE ; Hyo Suk NAM ; Yeonju YU ; Juneyoung LEE ; Keun-Sik HONG
Journal of Stroke 2025;27(2):275-278
8.Diagnosis of Pneumocystis jirovecii Pneumonia in Non-HIV Immunocompromised Patient in Korea: A Review and Algorithm Proposed by Expert Consensus Group
Raeseok LEE ; Kyungmin HUH ; Chang Kyung KANG ; Yong Chan KIM ; Jung Ho KIM ; Hyungjin KIM ; Jeong Su PARK ; Ji Young PARK ; Heungsup SUNG ; Jongtak JUNG ; Chung-Jong KIM ; Kyoung-Ho SONG
Infection and Chemotherapy 2025;57(1):45-62
Pneumocystis jirovecii pneumonia (PJP) is a life-threatening infection commonly observed in immunocompromised patients, necessitating prompt diagnosis and treatment. This review evaluates the diagnostic performance of various tests used for PJP diagnosis through a comprehensive literature review. Additionally, we propose a diagnostic algorithm tailored to non-human immunodeficiency virus immunocompromised patients, considering the specific characteristics of current medical resources in Korea.
9.Effectiveness of Buspirone in Alleviating Anxiety Symptoms in Patients with Depressive Disorder: A Multicenter Prospective Observational Study in Korea
Young Sup WOO ; Won-Seok CHOI ; Jong-Hyun JEONG ; Jonghun LEE ; Do-Hoon KIM ; Jong-Chul YANG ; Se-Hoon SHIM ; Seung-Gul KANG ; Young-Eun JUNG ; Won KIM ; Chi-Un PAE ; Won-Myong BAHK
Clinical Psychopharmacology and Neuroscience 2025;23(1):144-154
Objective:
We aimed to investigate the effectiveness of buspirone as an adjunctive therapy for alleviating anxiety symptoms in patients with depressive disorders who are already taking antidepressants.
Methods:
This was an open-label prospective multicenter non-interventional observational study conducted over 12 weeks. We enrolled 180 patients diagnosed with depressive disorders according to DSM-5 criteria and Hamilton Anxiety Rating Scale (HAMA) scores ≥ 18. Participants were already taking selective serotonin reuptake inhibitors or serotoninnorepinephrine reuptake inhibitors and were prescribed adjunctive buspirone. Efficacy was assessed using HAMA, Hamilton Depression Rating Scale (HAMD), Clinical Global Impression Scale-Improvement, Clinical Global Impression Scale-Severity, Sheehan Disability Scale (SDS), and WHO-5 Well-Being Index.
Results:
The efficacy analysis included 161 patients. HAMA scores decreased significantly from 25.2 ± 6.7 at baseline to 15.4 ± 8.6 at 12 weeks (p < 0.001), whereas HAMD scores decreased from 19.4 ± 4.6 to 12.7 ± 5.7 (p < 0.001).WHO-5 and SDS scores showed significant improvements. The HAMA response rate was 39.1% and the remission rate was 13.7% at 12 weeks. Adverse drug reactions were reported in 3.7% of participants. Subgroup analyses showed no significant differences in treatment response based on buspirone dosage, baseline anxiety/depression severity, or benzodiazepine use.
Conclusion
Adjunctive buspirone therapy effectively improved anxiety symptoms in depressed patients taking antidepressants, regardless of baseline symptom severity or buspirone dosage. The treatment was well-tolerated with few adverse events. Future studies using a control group are needed.
10.In Vivo Differentiation of Endogenous Bone Marrow-Derived Cells into Insulin-Producing Cells Using Four Soluble Factors
Seung-Ah LEE ; Subin KIM ; Seog-Young KIM ; Jong Yoen PARK ; Hye Seung JUNG ; Sung Soo CHUNG ; Kyong Soo PARK
Diabetes & Metabolism Journal 2025;49(1):150-159
Four soluble factors—putrescine, glucosamine, nicotinamide, and signal transducer and activator of transcription 3 (STAT3) inhibitor BP-1-102—were shown to differentiate bone marrow mononucleated cells (BMNCs) into functional insulin-producing cells (IPCs) in vitro. Transplantation of these IPCs improved hyperglycemia in diabetic mice. However, the role of endogenous BMNC regeneration in this effect was unclear. This study aimed to evaluate the effect of these factors on in vivo BMNC differentiation into IPCs in diabetic mice. Mice were orally administered the factors for 5 days, twice at 2-week intervals, and monitored for 45–55 days. Glucose tolerance, glucose-stimulated insulin secretion, and pancreatic insulin content were measured. Chimeric mice harboring BMNCs from insulin promoter luciferase/green fluorescent protein (GFP) transgenic mice were used to track endogenous BMNC fate. These factors lowered blood glucose levels, improved glucose tolerance, and enhanced insulin secretion. Immunostaining confirmed IPCs in the pancreas, showing the potential of these factors to induce β-cell regeneration and improve diabetes treatment.

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