2.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
3.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.
5.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.
7.Korean Translation and Psychometric Properties of Self-Report Instrument for Mobility Measuring for Adults With Lower Limb Amputation
Jin Hong KIM ; Sohye JO ; Gangpyo LEE
Annals of Rehabilitation Medicine 2025;49(2):72-80
Objective:
To assess mobility in prosthetic limb users, the Prosthetic Limb Users Survey of Mobility (PLUS-M) was developed as a brief item bank. The PLUS-M exhibits good reliability and has been translated into more than 15 languages; however, a Korean translation is not yet available. Therefore, this study translated the 44 items of PLUS-M into the Korean language and analysed the psychometric properties of the PLUS-M/Short Form 12 (PLUS-M/SF- 12) instrument through official procedures.
Methods:
The process of Korean translation began with a consultation with the developer of the PLUS-M and included the first and second compatibility verification, back-translation, back-translation verification by the developer, and the final approval of the Korean version. This study tested validity using different instruments such as Activities-specific Balance Confidence scale, 2-Minute Walk Test, Timed Up and Go Test to assess various characteristics related to mobility. The translated version PLUS-M was then sent to two physical therapists working at Incheon Hospital and one prosthetist working at a Rehabilitation Engineering Center for them to assess the appropriateness of term use and understanding of the instrument.
Results:
The study found excellent internal consistency and test-retest reliability of the PLUS-M/SF-12 Korean version questionnaire, indicating its reliability and predictability across repeated measurements.
Conclusion
This study provided a tool to assess the mobility of individuals with lower limb amputations.
8.Impact of portal/superior mesenteric vein abutment angle on prognosis in pancreatic cancer: a single-center retrospective cohort study
Hye Jeong JEONG ; DanHui HEO ; Soo Yeun LIM ; Hyeong Seok KIM ; Hochang CHAE ; So Jeong YOON ; Sang Hyun SHIN ; In Woong HAN ; Jin Seok HEO ; Ji Hye MIN ; Hongbeom KIM
Annals of Surgical Treatment and Research 2025;108(4):231-239
Purpose:
Pancreatic cancer has a poor prognosis; however, the implementation of neoadjuvant treatment enables borderline resectable cases to undergo curative resection and improves the overall survival rate. Attempts have been made to expand the eligibility criteria for neoadjuvant treatment, even in resectable cases. Some studies have suggested a correlation between vein abutment and poor prognosis or that the abutment angle may affect prognosis. This study investigated the anatomical factors affecting the vessel abutment angle and its prognostic value in pancreatic cancer.
Methods:
Patients with pancreatic ductal adenocarcinoma who underwent surgery between 2012 and 2017 were included in this study. Patients who underwent neoadjuvant treatment were excluded. Data from only the intent-to-treat pancreaticoduodenectomy group were included in the analysis. Clinicopathological characteristics; preoperative factors such as CA 19-9, preoperative biliary drainage, American Society of Anesthesiologists physical status classification, portal vein/superior mesenteric vein contact angle measured via CT scan; and intraoperative factors were collected for analysis.
Results:
A total of 365 patients were included in this study, and the abutment group included 92 patients (25.2%). The abutment and no-contact groups did not show any significant differences in terms of the overall survival or diseasefree survival rate. Among the abutment groups, patients with less than 90° and 90°–180° did not show any significant differences. In the multivariate analysis, the only preoperative factor that had a prognostic effect was CA 19-9, a biological factor.
Conclusion
When there is no vessel invasion in the abutment group, upfront surgery should be considered because the angle does not affect the overall prognosis.
9.Synergistic anticancer effects of mitochondria-targeting peptide combined with paclitaxel in breast cancer cells: a preclinical study
Juneyoung AHN ; Ok-Hee KIM ; Seongeon JIN ; Ja-Hyoung RYU ; Dosang LEE ; Woo-Chan PARK ; Say-June KIM
Annals of Surgical Treatment and Research 2025;108(2):108-123
Purpose:
Mitochondria-accumulating amphiphilic peptide (Mito-FF) was designed to selectively target mitochondria in cancer cells and enhance anticancer effects through its unique structure. Mito-FF consists of (1) diphenylalanine, a β-sheet-forming building block critical for self-assembly; (2) triphenylphosphonium, a mitochondrial targeting moiety guiding the peptide to mitochondria; and (3) pyrene, a fluorescent probe enabling visualization of its accumulation and selfassembly. This study evaluates the anticancer efficacy of Mito-FF in breast cancer cells and explores its combination with paclitaxel, a standard therapy for breast cancer, focusing on its modulation of the epithelial-mesenchymal transition (EMT) pathway.
Methods:
In vitro and in vivo experiments were performed using MCF-7 and MDA-MB-231 breast cancer cell lines and their respective xenograft models. Cell viability, migration, EMT marker expression, and apoptosis-related proteins were analyzed.
Results:
Mito-FF demonstrated superior inhibition of cell viability and migration compared to paclitaxel alone in both cell lines. Combination therapy with Mito-FF and paclitaxel resulted in enhanced reduction of cell viability and migration. EMT markers were significantly modulated, with decreased mesenchymal markers (Snail and vimentin) and increased epithelial marker (E-cadherin) following combination treatment. Furthermore, the combination therapy synergistically elevated proapoptotic markers such as poly (adenosine diphosphate-ribose) polymerase and reduced anti-apoptotic markers such as myeloid cell leukemia 1. In vivo experiments revealed a marked reduction in tumor volume with combination therapy, accompanied by the highest expression levels of E-cadherin and pro-apoptotic marker Bim.
Conclusion
Mito-FF, designed for mitochondrial targeting and visualization, exhibited potent anticancer effects when combined with paclitaxel, in the breast cancer cells.
10.Risk factors for recurrence in stage I colorectal cancer after curative resection: a systematic review and meta-analysis
Sung Hwan HWANG ; Seon-Hi SHIN ; Yun Jin KIM ; Jun Ho LEE
Annals of Surgical Treatment and Research 2025;108(1):39-48
Purpose:
Patients with stage I colorectal cancer (CRC) rarely experience recurrence after curative resection. Therefore, the risk factors for stage I CRC recurrence are yet to be established. We aimed to identify risk factors for stage I CRC recurrence.
Methods:
MEDLINE, Embase, and Cochrane Library were searched for articles published between 1990 and 2022. The pooled proportions and hazard ratios (HRs) were calculated. Fixed- or random-effect models were considered based on heterogeneity, using Cochran’s Q-statistic and the I2 -test.
Results:
Nine studies involving 19,440 patients were included. Nine analyzed risk factors were identified. T2 stage (pooled HR, 2.070; 95% confidence interval [CI], 1.758–2.438; P < 0.001; I2 =0.0%), lymphovascular invasion (HR, 1.685; 95% CI, 1.420–1.999; P < 0.001; I2 = 0.0%), venous invasion (HR, 1.794; 95% CI, 1.515–2.125; P < 0.001; I2 = 0.0%), CEA level (HR, 1.472; 95% CI, 1.093–1.983; P = 0.011; I2 = 1.8%) and rectal cancer (HR, 2.981; 95% CI, 2.378–3.735; P < 0.001; I2 = 0.0%) were risk factors for the recurrence. However, the risk of recurrence in right-sided colon cancer was lower than in leftsided colon cancer. (HR, 0.712; 95% CI, 0.537–0.944; P = 0.018; I2 = 0.0%). No statistically significant differences were observed in the number of harvested lymph nodes, age, and sex.
Conclusion
T2 stage, lymphovascular invasion, venous invasion, CEA level, rectal cancer, and left-sided colon cancer were risk factors for recurrence in stage I CRC. Intensive monitoring and surveillance are warranted for patients with high-risk features of recurrence.

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