1.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
2.Minimally invasive transanal excision for rectal tumors: technical feasibility compared to conventional approach
Ji Yeon MUN ; Gyu Sung GEONG ; Nina YOO ; Hyung Jin KIM ; Hyeon-Min CHO ; Bong-Hyeon KYE
Annals of Coloproctology 2025;41(2):162-168
Purpose:
The technique for transanal resection of rectal tumors has evolved from conventional methods to minimally invasive approaches. However, the research comparing long-term results between these approaches is limited.
Methods:
Between 2016 and 2022, a total of 133 patients who underwent transanal excision were analyzed. Patients were classified into 2 groups according to surgical approach: conventional transanal approach (CTA) and minimally invasive transanal approach (MTA). Medical records were analyzed to compare surgical and oncological outcomes between the 2 groups.
Results:
There were no significant differences observed in patient’s demographics and tumor characteristics, except the MTA group exhibited a statistically longer distance from the anal verge. Although statistical significance was not reached, the MTA group demonstrated a 100% margin-negative rate in contrast to the CTA group, which had worse outcomes for both margin status and fragmentation. Recurrence was observed only in the CTA group containing pT1 rectal cancer and grade 1 neuroendocrine tumor, with negative margins and no fragmentation.
Conclusion
The minimally invasive approach did not demonstrate statistical superiority but showed technical feasibility through the absence of margin-positive cases and the use of the clip handle method. Further studies are needed to validate these findings and assess broader applicability.
3.Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development
Heeyon YOON ; Dohyung KIM ; Ja Hye KIM ; Han-Wook YOO ; Jin-Ho CHOI
Annals of Pediatric Endocrinology & Metabolism 2025;30(2):77-85
Purpose:
46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD.
Methods:
The study included 34 patients with 46,XX DSD who presented with ambiguous genitalia or delayed puberty. Patients with congenital adrenal hyperplasia were excluded. Clinical phenotypes and overall outcomes were analyzed retrospectively.
Results:
Age at presentation ranged from birth to 40 years (median, 0.6 years), and the follow-up period ranged from 0.3 to 29.7 years (median, 8.8 years). Twenty patients were assigned female (58.8%). Etiologies included disorders of gonadal development (n=22), exogenous androgen exposure during pregnancy (n=5), association with syndromic disorders or genital anomalies (n=2), and unclassified causes (n=5). Ovotestis was the most frequent gonadal pathology (41.7%). Müllerian duct remnants were usually underdeveloped (52.9%) or absent (23.5%). Spontaneous puberty occurred in 17 of the 21 patients of pubertal age, while 9 patients required sex hormone replacement therapy. Gonadal complications were observed in 4 patients (gonadal tumors [n=3], and spontaneous gonadal rupture [n=1]), and gender dysphoria occurred in 1 patient who was assigned male.
Conclusion
This study described the wide phenotypic spectrum and pubertal outcome of patients with 46,XX DSD. Long-term multidisciplinary monitoring for pubertal development, fertility, gender identity, and gonadal complications is recommended.
6.Proposal of age definition for early-onset gastric cancer based on the Korean Gastric Cancer Association nationwide survey data: a retrospective observational study
Seong-A JEONG ; Ji Sung LEE ; Ba Ool SEONG ; Seul-gi OH ; Chang Seok KO ; Sa-Hong MIN ; Chung Sik GONG ; Beom Su KIM ; Moon-Won YOO ; Jeong Hwan YOOK ; In-Seob LEE ;
Annals of Surgical Treatment and Research 2025;108(4):245-255
Purpose:
This study aimed to define an optimal age cutoff for early-onset gastric cancer (EOGC) and compare its characteristics with those of late-onset gastric cancer (LOGC) using nationwide survey data.
Methods:
Using data from a nationwide survey, this comprehensive population-based study analyzed data spanning 3 years (2009, 2014, and 2019). The joinpoint analysis and interrupted time series (ITS) methodology were employed to identify age cutoffs for EOGC based on the sex ratio and tumor histology. Clinicopathologic characteristics and surgical outcomes were compared between the EOGC and LOGC groups.
Results:
The age cutoff for defining EOGC was suggested to be 50 years, supported by joinpoint and ITS analyses. Early gastric cancer was predominantly present in the EOGC and LOGC groups. Patients with EOGC comprised 20.3% of the total study cohort and demonstrated a more advanced disease stage compared to patients with LOGC. However, patients with EOGC underwent more minimally invasive surgeries, experienced shorter hospital stays, and had lower postoperative morbidity and mortality rates.
Conclusion
This study proposes an age of ≤50 years as a criterion for defining EOGC and highlights its features compared to LOGC. Further research using this criterion should guide tailored treatment strategies and improve outcomes for young patients with gastric cancer.
7.Appropriateness of multidisciplinary treatment related to the adequacy evaluation of gastric cancer from the surgeon’s point of view: a retrospective cohort study
Ba Ool SEONG ; Seul-Gi OH ; Chang Seok KO ; Sa-Hong MIN ; Chung Sik GONG ; In-Seob LEE ; Beom Su KIM ; Jeong Hwan YOOK ; Moon-Won YOO
Annals of Surgical Treatment and Research 2025;108(4):240-244
Purpose:
Multidisciplinary treatment (MDT) in gastric cancer is an effective approach for establishing treatment plans.However, the appropriateness of using “ratio of MDT” as an item for evaluating the adequacy of gastric cancer treatment in Korea has not been previously researched. The purpose of this study is to verify whether the “ratio of MDT” is appropriate as an item for gastric cancer adequacy evaluation from the surgeon’s perspective.
Methods:
This study involved 142 patients who received MDT at our hospital between December 2015 and January 2023.Patients were divided into 2 groups based on the date when gastric cancer adequacy evaluation was implemented; there were 71 patients before and after the evaluation was conducted, respectively. Based on electronic medical records, the initial plan prepared before the MDT clinic and the final plan prepared after the clinic were compared to determine whether the plan was changed.
Results:
The average age of patients who received MDT before and after the evaluation was 64.8 and 62.2 years, respectively. Overall, 50 and 21 patients were male (70.4%) and female (29.6%), respectively, in both groups. Before the evaluation, 26 patients (36.6%) who received MDT changed their treatment plans after visiting the clinic, and 15 patients (21.1%) who received MDT after the evaluation had their treatment plans modified. Groups who received MDT and changes in treatment plans were significantly correlated (P = 0.042).
Conclusion
Our findings suggest that including the “ratio of MDT” as an item of gastric cancer adequacy evaluation needs reassessment.
8.CORRIGENDUM: Proposal of age definition for early-onset gastric cancer based on the Korean Gastric Cancer Association nationwide survey data: a retrospective observational study
Seong-A JEONG ; Ji Sung LEE ; Ba Ool SEONG ; Seul-gi OH ; Chang Seok KO ; Sa-Hong MIN ; Chung Sik GONG ; Beom Su KIM ; Moon-Won YOO ; Jeong Hwan YOOK ; In-Seob LEE ;
Annals of Surgical Treatment and Research 2025;108(5):331-331
9.Allergy Inhibition Using Naturally Occurring Compounds Targeting Thymic Stromal Lymphopoietin Pathways: a Comprehensive Review
Le Ba VINH ; Kyeong Seon LEE ; Yoo Kyong HAN ; Young Jun KIM ; Suzy KIM ; Abdul Bari SHAH ; Youngjoo BYUN ; Ki Yong LEE
Biomolecules & Therapeutics 2025;33(2):249-267
Naturally occurring compounds have widely been applied to treat diverse pharmacological effects, including asthma, allergic diseases, antioxidants, inflammation, antibiotics, and cancer. Recent research has revealed the essential role of the thymic stromal lymphopoietin (TSLP) in regulating inflammatory responses at mucosal barriers and maintaining immune homeostasis. Asthma, inflammation, and chronic obstructive pulmonary disease are allergic disorders in which TSLP plays a significant role. Although TSLP’s role in type 2 immune responses has undergone comprehensive investigation, its involvement in inflammatory diseases and cancer has also been found to be expanding. However, investigating how to block the TSLP pathway using natural products has been limited. This paper summarizes the roles of various medicinal plants and their chemical components that effectively inhibit the TSLP pathway. In addition, we also highlight the contributions of several plant-derived compounds to treat allergic diseases via targeting TSLP. This review intends to offer innovative concepts to scientists investigating the use of naturally produced compounds and extracts for the treatment of allergic illnesses.
10.Stress Accelerates Depressive-Like Behavior through Increase of SPNS2 Expression in Tg2576 Mice
Seung Sik YOO ; Yuri KIM ; Dong Won LEE ; Hyeon Joo HAM ; Jung Ho PARK ; In Jun YEO ; Ju Young CHANG ; Jaesuk YUN ; Dong Ju SON ; Sang-Bae HAN ; Jin Tae HONG
Biomolecules & Therapeutics 2025;33(3):417-428
To investigate the relationship between depression and AD, water avoidance stress (WAS) was induced for 10 days in both Tg2576 mice and wild-type (WT) mice. After WAS, memory function and depressive-like behavior were investigated in Tg2576 mice. Tg2576 WAS mice exhibited more depressive-like behaviors than WT WAS and Tg2576 control (CON) mice. Strikingly, Tg2576 CON mice showed more depressive-like behaviors than WT mice. Moreover, corticosterone and phospho-glucocorticoid receptor (p-GR) levels were also higher in Tg2576 WAS mice in comparison to Tg2576 CON mice. Spinster homologue 2 (SPNS2) is a member of non-ATP-dependent transporter. The role of SPNS2 was widely known as a sphingosine-1-phosphate (S1P) transporter, which export intracellular S1P from cells. Using GEO database to analyze SPNS2 gene expression changes in patients with AD and depression, we show that SPNS2 gene expression correlates with AD and depression. Interestingly, Tg2576 WAS mice displayed significantly increased levels of SPNS2 w1hen compared to Tg2576 CON counterparts. SPNS2 levels were also higher in Tg2576 CON mice in comparison with WT CON mice. Remarkably, we found a decrease in S1P brain levels and an increase in S1P serum levels of Tg2576 WAS mice in comparison with Tg2576 CON mice. Accordingly, WAS induced group further decreased S1P levels in the brains. However, the level in the serum further increased in comparison with non-induced group. Therefore, these results suggest that AD and depression could be associated, and that Tg2576 transgenic mice are more susceptible to stress-induced depression through the release of S1P by SPNS2 up-regulation.

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