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 2026;34(1):108-108
2.The Korean Rectal Cancer Multidisciplinary Committee Clinical Practice Guidelines for Rectal Cancer version 2.0
Hyo Seon RYU ; Hyun Jung KIM ; Dong Hyun KANG ; Yoo-Kang KWAK ; Han Deok KWAK ; Yoon-Hye KWON ; Dalyon KIM ; Baek-Hui KIM ; Jae Hyun KIM ; Ji Hun KIM ; Jin Won KIM ; Tae Hyung KIM ; Hae Young KIM ; Soo Min NAM ; Gyoung Tae NOH ; Jun Woo BONG ; Nak Song SUNG ; Seon Hui SHIN ; Kil-Yong LEE ; Sung Chul LEE ; Sea-Won LEE ; Jung Won LEE ; Jong Min LEE ; Myung Hoon IHN ; Joo Han LIM ; Woong Bae JI ; Dae Hee PYO ; Young Ki HONG ; Jung-Myun KWAK ;
Annals of Coloproctology 2026;42(1):4-33
Rectal cancer, which accounts for approximately 40% of colorectal cancers, remains a major clinical concern. Recent advances in diagnostic imaging, surgical techniques, radiotherapy, and systemic treatment have steadily improved rectal cancer outcomes. Considering this, the Korean Rectal Cancer Multidisciplinary (KRCM) Committee has aimed to provide clinicians and policymakers with up-to-date, evidence-based clinical practice guidelines to support optimal decision-making, reflecting current evidence, the Korean healthcare context, and patient values and preferences. The Clinical Practice Guidelines for Rectal Cancer version 2.0 were developed through multidisciplinary collaboration with related academic societies, building upon and updating the KRCM Clinical Practice Guidelines version 1.0 (titled “Multidisciplinary guidelines for the management of rectal cancer”). These consensus guidelines of the KRCM were established based on a comprehensive literature review, evidence synthesis, with recommendation development guided by the GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology, and consideration of applicability in real-world clinical practice under the national health insurance system. Each recommendation has been presented with its strength and level of evidence.
3.Efficacy and Safety of Novel Botulinum Toxin Type A (Protoxin) in the Treatment of Moderate to Severe Glabellar Lines: A Multicenter, Randomized, Double-Blind, Active-Controlled Phase III Study
Hyung Seok SON ; Min Kyung SHIN ; Jong Hun LEE ; Moon Bum KIM ; Kwang Ho YOO ; Sun Young CHOI ; Hye Sung HAN ; Joon SEOK ; Beom Joon KIM ; Yang Won LEE
Annals of Dermatology 2026;38(1):33-41
Background:
A novel botulinum toxin type A (Protoxin; Protox Inc.) has been developed.
Objective:
To evaluate the efficacy and safety of the newly developed Protoxin compared to the approved drug onabotulinumtoxinA (OBoNT) in moderate to severe glabellar lines.
Methods:
Adults with a glabellar line Facial Wrinkle Scale (FWS) score of 2 (moderate) or 3 (severe) were enrolled in the study. Subjects were randomized in a 1:1 ratio to receive either Protoxin or OBoNT. A total of 20 units of botulinum toxin was injected at five sites in the glabellar region (4 units at each site). FWS scores were assessed at baseline and at weeks 4, 8, 12, and 16 post-injection. The primary endpoint was the proportion of subjects at week 4 who had a reduction of 2 or more points in FWS and a final score of 0 (none) or 1 (mild).
Results:
A total of 274 subjects were randomized, of whom 78.1% were female. At week 4 post-treatment, the improvement rate of glabellar lines was 62.22% in the Protoxin group and 62.96% in the OBoNT group. The lower limit of the two-sided 95% confidence interval (−12.24%) exceeded the −15% margin, confirming the non-inferiority of the new drug. Safety profiles were comparable between the two groups.
Conclusion
Protoxin demonstrated efficacy and safety profiles comparable to those of OBoNT in the treatment of moderate to severe glabellar lines.
4.Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia
Hyun-Young KIM ; Boram KIM ; Min-Seung PARK ; Jong-Ho PARK ; Hee Young JU ; Keon Hee YOO ; Jun Ho JANG ; Chul Won JUNG ; Hee-Jin KIM
Annals of Laboratory Medicine 2026;46(3):257-269
Background:
Fusion genes are major drivers of acute leukemia. Conventional diagnostics are limited in detecting the diverse fusions included in recently updated acute leukemia classifications. We evaluated the fusion detection performance of RNA sequencing (RNAseq) compared with that of conventional diagnostics in patients with acute leukemia.
Methods:
We retrospectively obtained the data of 101 patients with acute leukemia who underwent conventional diagnostics (i.e., karyotyping, FISH, or multiplex reverse transcription PCR) at diagnosis at Samsung Medical Center, Seoul, Korea, between September 2022 and September 2023. Whole RNA-seq was performed using the Illumina Stranded mRNA Prep kit (Illumina, San Diego, CA, USA). The concordance, sensitivity, and specificity of RNA-seq for fusion gene detection were compared with those of conventional diagnostics.
Results:
RNA-seq helped identify 52 fusion genes in 51 (50.5%) of 101 patients, with detection rates of 40.7%, 70.3%, 37.5%, and 50% in acute myeloid leukemia, B-cell acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemia, and mixed-phenotype acute leukemia, respectively. RNA-seq showed 83.3% sensitivity and 80.8% concordance with conventional diagnostics; it missed eight fusions, likely because of low transcript abundance or enhancer hijacking. RNA-seq also helped clarify three previously unspecified rearrangements and detected 12 fusions (21.4%) in 56 cases that tested negative with conventional diagnostics, including four novel (KMT2A::THAP12 , RUNX1::PRPF19 , MLLT10::UBE2L6, and FUS::ZNF362) and three rare (HNRNPH1::ERG, RUNX1::USP42, and ETV6::NCOA2) fusions.
Conclusions
This was the first study to evaluate the performance of whole RNA-seq in fusion detection in patients with acute leukemia in Korea. Incorporating RNA-seq into diagnostic workflows may facilitate earlier and more precise therapeutic decisions and improve prognostic assessment in patients with acute leukemia.
5.Accuracy of Two Direct Antibiotic-Susceptibility Tests and Their Impact on the Optimal Treatment of Enterobacterales-Associated Bloodstream Infection:Comparison of the QMAC-dRAST V2.5 and BD Phoenix M50 Systems
Ji Sang YOON ; Joo An KWON ; Jeong Seob SHIN ; Hyun Soo SEOK ; In Young YOO ; Yeon-Joon PARK
Annals of Laboratory Medicine 2026;46(3):279-288
Background:
Rapid pathogen identification and antibiotic-susceptibility tests (ASTs) are important for treating bloodstream infections. We compared the performance of the QMAC-dRAST and BD Phoenix M50 direct AST (dPhoenix) systems using bacterial pellets prepared from positive blood culture broth and evaluated their impact on treatment modification.
Methods:
Direct AST results for 106 Enterobacterales isolates were retrospectively reviewed. Conventional broth microdilution was used to calculate categorical agreement (CA), very major error (VME), major error (ME), and minor error (mE). For isolates showing high VMEs in both methods, supplementary tests were performed. Clinical impact was evaluated by calculating the time required to obtain AST results (time-to-result) and observing changes in antibiotics prescribed after performing ASTs.
Results:
Both systems showed acceptable overall CA, VME, ME, and mE values (QMACdRAST: 93.6%, 1.6%, 0.9%, and 5.3%, respectively; dPhoenix: 93.1%, 0.9%, 0.6%, and 6.2%, respectively). Piperacillin–tazobactam showed high VMEs with QMAC-dRAST (4/20, 20.0%) and dPhoenix (3/20, 15.0%). Colony AST on 13 isolates revealed that QMACdRAST testing yielded lower minimal inhibitory concentrations (MICs) for piperacillin–tazobactam with three isolates, whereas dPhoenix testing yielded higher MICs with two isolates and lower MICs with two isolates. The average time-to-result was 20.8 hr and 30.1 hr for QMAC-dRAST and dPhoenix, respectively (P < 0.001). After AST, the number of optimal treatments increased from 43 (46.7%) to 72 (78.3%) (P < 0.001).
Conclusions
The QMAC-dRAST and dPhoenix systems provided reliable AST results with a short time-to-result. However, we recommend performing complementary tests, such as the disk diffusion test, for piperacillin–tazobactam.
6.Association between initial mental health status and glycemic control in pediatric diabetes
Jeongho HAN ; Mi YANG ; Hakyung LEE ; Dong Jun HA ; Hwa Young KIM ; Hee Jeong YOO ; Jae Hyun HAN ; Jaehyun KIM
Annals of Pediatric Endocrinology & Metabolism 2026;31(2):101-109
Purpose:
Psychiatric conditions are common in children and adolescents with diabetes and can hinder disease management. In this study, we examined whether mental health status at diagnosis predicts glycemic control at 1 year.
Methods:
We included 57 patients aged 6–18 years diagnosed with type 1 or type 2 diabetes between 2019 and 2023 at Seoul National University Bundang Hospital. Mental health was assessed within 3 months of diagnosis using the Eating Disorder Inventory-2, Children’s Depression Inventory, and Child Behavior Checklist (CBCL) for ages 6–18. Poor glycemic control was defined as glycated hemoglobin >6.5% at 1 year. Associations between screening results and glycemic control were analyzed using Fisher exact test and multivariate logistic regression.
Results:
Of the 57 patients, 32 (56.1%) had type 1 diabetes, and the mean age at diagnosis was 12.9±3.1 years; 31 (54.4%) were male. Poor glycemic control at 1 year was observed in 16 patients (28.1%). Although individual subscale positivity was not significantly associated with glycemic control, borderline somatic complaints on the CBCL were significantly associated with poor control (p=0.022). In multivariate analysis, having 2 or more positive CBCL subscales showed a trend toward association with poor glycemic control (adjusted odds ratio=21.47, p=0.054).
Conclusion
Early psychological screening, especially for somatic symptoms or multiple psychological problems, may help identify those at risk for poor glycemic control in pediatric diabetes. These findings underscore the importance of early detection and intervention in optimizing diabetes management.
7.Outcomes in youth-onset type 2 diabetes during the transition period: glycemic control, microvascular complications, and effects of second-line agents
Jeesun YOO ; Yun Jeong LEE ; Choong Ho SHIN ; Young Ah LEE
Annals of Pediatric Endocrinology & Metabolism 2026;31(1):45-54
Purpose:
Despite the global paradigm emphasizing earlier and more aggressive intervention for youth-onset type 2 diabetes mellitus (T2DM), metformin and insulin are the only drugs approved for Korean adolescents. We investigated the incidence of complications, changes in glycemic control during the transition period, the effect of second-line antidiabetic agents on glycemic control in young adults with youth-onset T2DM.
Methods:
Eighty-four patients diagnosed with T2DM at Seoul National University Children's Hospital between January 2001 and July 2023, before age 18 (47 males; mean age, 14 years) with available glycated hemoglobin (HbA1c) data from at least 2 distinct ages between 19 and 22 years old were retrospectively enrolled.
Results:
At the last follow-up (mean age, 24.9 years; median follow-up, 9.6 years), complications were found in 33.7% (nephropathy, 25.3%; eye disease, 20.6%), and 83% required insulin or second-line agents. During the transition period, HbA1c levels decreased from 8.2% at age 19 to 7.7% at age 22 (P<0.01), with greater improvements in females, those diagnosed before age 15, and those with HbA1c levels ≥7% at age 19. HbA1c level decreased significantly at 1 year after the addition of second-line medications (P=0.03) and at the last visit (P=0.03) compared with baseline.
Conclusion
Glycemic control improved during the transition period among youth-onset T2DM patients. Given the high incidence of complications and the beneficial effects of second-line agents on glycemic control, there is an urgent need to expand the range of approved second-line agents, along with broader insurance coverage in adolescence.
8.Early prediction of transient versus permanent congenital hypothyroidism: a retrospective cohort study
Myung Ji YOO ; Ji-Eun LEE ; Eun Young JOO ; Jisun PARK ; Young Ju SUH ; Su Jin KIM
Annals of Pediatric Endocrinology & Metabolism 2026;31(1):38-44
Purpose:
Early differentiation between transient congenital hypothyroidism (TCH) and permanent congenital hypothyroidism (PCH) is crucial for optimizing the duration of treatment. This retrospective cohort study aimed to evaluate whether levothyroxine (LT4) dose requirements over time can predict TCH and guide earlier discontinuation of treatment.
Methods:
We retrospectively analyzed 105 infants with congenital hypothyroidism and normal thyroid glands confirmed by imaging at a single tertiary care center (Inha University Hospital) between January 2013 and December 2022. Patients were classified into TCH (n=70) or PCH (n=35) based on thyroid function after LT4 withdrawal at 3 years of age. LT4 dose/kg at 6, 12, and 24 months, along with clinical and biochemical parameters, were compared between the 2 groups. Receiver operating characteristic (ROC) curve analysis was used to assess the predictive performance of LT4 dose thresholds.
Results:
The LT4 dose was significantly lower in the TCH group at 6 (3.16±0.83 μg/kg vs. 3.75±0.99 μg/kg, P=0.005), 12 (2.51±0.82 μg/kg vs. 3.37±1.17 μg/kg, P<0.001), and 24 months (2.02±0.61 μg/kg vs. 3.09±1.19 μg/kg, P<0.001). ROC curve analysis showed an area under the curve (AUC) of 0.649, 0.746, and 0.794 at 6, 12, and 24 months, respectively. A logistic regression model incorporating LT4 dose, birth weight, and thyroid-stimulating hormone (TSH) levels improved prediction accuracy (AUC: 0.740, 0.782, 0.833 at 6, 12, and 24 months, respectively).
Conclusion
LT4 dose requirements at 6, 12, and 24 months serve as useful indicators for differentiating TCH from PCH. A combined predictive model incorporating LT4 dose, birth weight, and TSH levels may improve diagnostic accuracy, supporting earlier discontinuation of treatment.
9.Final adult height in male patients with central precocious puberty after gonadotropin-releasing hormone agonist treatment
Kyoung Won CHO ; Youn Kyoung KIM ; Ji Eun YOO ; Joon Young KIM ; Seo Jung KIM ; Sujin KIM ; Youngha CHOI ; Kyungchul SONG ; Eun Byeol LEE ; Hyun Wook CHAE ; Junghwan SUH
Annals of Pediatric Endocrinology & Metabolism 2026;31(1):30-37
Purpose:
We aimed to compare the final adult height (FAH) of male patients with central precocious puberty (CPP) after treatment with a gonadotropin-releasing hormone agonist (GnRHa). Specifically, we compared FAH with the target height (TH) and the predicted adult height (PAH) before and after GnRHa treatment to quantify height gain and identify predictive factors.
Methods:
We retrospectively reviewed the medical records of 92 male patients with CPP and known FAH after GnRHa treatment at the Department of Pediatrics of Severance Children’s Hospital between January 2000 and June 2024.
Results:
The mean duration of GnRHa treatment was 2.7±1.3 years. A significant 1.1±0.9 years narrowing was observed in the difference between bone age (BA) and chronological age (CA) during treatment (P<0.001). TH was 172.4±3.4 cm. FAH was 173.6±6.4 cm. FAH was greater than TH by 1.2±5.9 cm (P=0.047). PAH before and after treatment was 179.9±8.1 and 181.2±7.4 cm, respectively. PAH was increased by 1.3±4.9 cm (P=0.012) after treatment. As the PAH standard deviation score (SDS) before GnRHa treatment increased, FAH tended to exceed TH. In contrast, higher testosterone levels before treatment are associated with FAH falling below TH. A longer duration of treatment and taller TH are associated with an FAH SDS greater than height SDS before treatment. Conversely, a greater weight SDS, BA–CA difference, and testis size before treatment are associated with FAH SDS being less than height SDS before GnRHa treatment.
Conclusion
GnRHa treatment improved FAH and inhibited bone maturation in male patients with CPP.
10.Comparative perioperative outcomes of single-port laparoscopic ArtiSential versus da Vinci SP platform for totally extraperitoneal inguinal hernia repair:a multi-institutional, propensity score-matched analysis in Korea
In Kyeong KIM ; Moonjin KIM ; Ji-Yeon MOON ; Ri Na YOO ; Jumyeong SONG ; Chaedong LIM ; Choon Sik CHUNG ; Gwan Cheol LEE ; Tae Gyu KIM ; Young Sun CHOI ; Dong Geun LEE ; Chul Seung LEE
Journal of Minimally Invasive Surgery 2026;29(1):3-10
Purpose:
This study aimed to compare perioperative and postoperative outcomes of single-port laparoscopic articulated instrument-assisted versus da Vinci SP-assisted totally extraperitoneal (TEP) inguinal hernia repair using a propensity score-matched multi-institutional cohort.
Methods:
Between April 2022 and July 2025, 221 patients underwent TEP unilateral inguinal hernia repair at four institutions. Among them, 33 patients underwent da Vinci SP-assisted repair (Intuitive Surgical) and 188 underwent single-port laparoscopy using the articulated instrument, ArtiSential (LivsMed). Propensity score matching was performed in a 1:1 ratio based on demographic and clinical variables, resulting in 30 matched patients in each group. Perioperative outcomes and postoperative complications were analyzed.
Results:
After matching, baseline characteristics were well balanced between the groups.Operative time was significantly longer in the da Vinci SP group than in the ArtiSential group (median [interquartile range], 82.0 [67.5–105.0] vs. 35.0 [28.5–47.5] minutes; p < 0.001). No open conversions occurred, and conversions to transabdominal preperitoneal repair were rare and comparable. Mesh size selection differed significantly, with smaller meshes more frequently used in the da Vinci SP group (p < 0.001). Postoperative outcomes, including length of hospital stay, overall complication rates, chronic pain, and recurrence, were similar between the groups. No major complications, readmissions, or reoperations were observed.
Conclusion
Articulated instrument-assisted TEP inguinal hernia repair demonstrated a significantly shorter operative time than da Vinci SP-assisted repair, while perioperative safety and postoperative outcomes were comparable.

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