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.Molecular phylogeny and morphometric divergence of native Korean wild mice (Musmusculus)
Daewoo KIM ; Jooseong OH ; Jang Geun OH ; Hee-Young YANG ; Geun-Joong KIM ; Tae-Hoon LEE ; Bae-Keun LEE ; Chungoo PARK ; Dong-Ha NAM
Laboratory Animal Research 2026;42(1):68-81
Background:
The taxonomic status of house mice (Mus musculus) on the Korean Peninsula has long been debated due to conflicting morphological classifications and limited genetic evidence. Historically, three subspecies (M. m.molossinus, M. m. utsuryonis, and M. m. yamashinai) have been proposed based on external traits, although the validity of these proposals remains uncertain. Thus, this study aimed to integrate genetic and morphological analyses to clarify the phylogenetic relationships of Korean mice relative to the well-known primary M. musculus subspecies and evaluate the taxonomic distinctiveness.
Results:
Genetic analysis of mitochondrial DNA (cytb gene) from mice across Korea, including islands, mountains, and agricultural fields, confirmed that these mice belong to the Eurasian M. m. musculus lineage. Morphologically, Korean mice exhibited tail ratios consistent with previously assigned subspecies, suggesting these traits represent intraspecific variation within M. m. musculus. Craniometric analyses revealed distinctive features, such as a shorter, narrower premaxillary tooth-patch width and a longer maxillary tooth-row length, thereby distinguishing these mice from laboratory strains derived from M. m. domesticus. These cranial configurations, visualized via three-dimensional micro-computed tomography scans, further supported the morphological divergence of these mice from other subspecies.
Conclusions
Our findings indicate that Korean house mice belong to a single subspecific group within M. m.musculus, with observed morphological variations reflecting local adaptation rather than distinct taxonomic divisions.The Korean Peninsula likely served as an ecological bridge, facilitating the spatiotemporal diversification of M. m.musculus across East Eurasia. This study resolves longstanding taxonomic ambiguities and underscores the subspecific status of Korean house mice within M. m. musculus. These insights provide a foundation for understanding the biogeographic history of human commensal species and future biomedical research utilizing wild-derived mouse models.
4.Pedicle screw insertion technique into a previously cement-augmented vertebral body: a technical note with a case series
Hee Jung SON ; Hyeongseok KIM ; Hyunjin NAM ; Chang-Nam KANG
Asian Spine Journal 2026;20(2):354-360
As the population ages, the incidence of osteoporotic vertebral compression fractures (OVCF) continues to rise, leading to an increased use of cement augmentation procedures. Consequently, clinicians are more frequently encountering patients with cement-augmented vertebrae who require additional spinal instrumentation. However, pedicle screw insertion into previously cement-augmented vertebral bodies remains technically challenging. This study aimed to describe a simple and reproducible technique for a safe and effective insertion of a pedicle screw into cement-augmented vertebral bodies. Ten patients with a history of cement augmentation for OVCF, who subsequently developed severe kyphotic deformity or degenerative spinal disease requiring posterior instrumentation, were treated using this technique. Pedicle screws were successfully inserted into all cement-augmented vertebrae without any intraoperative complications, including drill tip breakage, cement dislodgement, or anterior wall violation. In conclusion, pedicle screw insertion into cementaugmented vertebral bodies can be performed safely and reliably. This method may simplify a procedure that has traditionally been regarded as technically demanding.
5.Malignant Hepatocellular Neoplasm, Not Otherwise Specified, Displays Poorer Chemoresponsiveness and Postoperative Prognosis Than Hepatoblastoma
In Hye SONG ; Sujin GANG ; Hee Mang YOON ; Pyeong Hwa KIM ; Bokyung AHN ; Jihun KIM ; Deok Hoon KIM ; Jung-Man NAMGOONG ; Kyung-Nam KOH
Cancer Research and Treatment 2026;58(2):642-655
Purpose:
Malignant hepatocellular neoplasm, not otherwise specified (HCN-NOS) is a provisional diagnostic entity, characterised by intermediate or a combination of hepatoblastoma and pediatric hepatocellular carcinoma (p-HCC) features. We compared the characteristics of HCN-NOS with hepatoblastoma and p-HCC.
Materials and Methods:
The records of 148 pediatric patients diagnosed with hepatocellular malignancy after resection were retrieved from the institutional database. Clinical parameters and histopathology slides were reviewed to re-establish each patient’s diagnosis. Molecular analyses were conducted in 37 patients.
Results:
Patients were profiled as 21 (14.2%) with HCN-NOS, 109 (73.6%) with hepatoblastoma, and 18 (12.2%) with p-HCC. The median age was 8.6 years in HCN-NOS, 1.2 years in hepatoblastoma, and 7.9 years in p-HCC. Background liver disease was frequently observed in p-HCC (11/18, 61%) but infrequent in HCN-NOS (4/21, 19%) and hepatoblastoma (4/109, 3.7%). HCN-NOS presented with a more advanced PRETEXT stage (p=0.012), metastasis (p < 0.001), and lymphovascular invasion (p < 0.001) than hepatoblastoma and p-HCC. Patients with HCN-NOS received longer cycles of preoperative chemotherapy; however, they reported a lower decrease in serum alpha-fetoprotein and tumor size than hepatoblastoma (p=0.043, p=0.004, and p=0.044, respectively). HCN-NOS was an independent poor prognostic factor for event-free survival (hazard ratio, 4.968; 95% confidence interval, 2.004 to 12.32; p < 0.001).
Conclusion
The possibility of HCN-NOS should be considered in pediatric patients with liver cancer, especially those ≥ 5 years old with no background liver disease. Because HCN-NOS exhibits poor chemoresponsiveness and unfavourable postoperative prognosis, liver transplantation should be strongly considered.
6.Comparative Study of Mastectomy Using Conventional Techniques, Multiport and Single-Port Robotic Surgical Systems
Jeea LEE ; Jieon GO ; Suk Jun LEE ; Yonghan KWON ; Nam Hee KIM ; Jee Ye KIM ; Hyung Seok PARK
Cancer Research and Treatment 2026;58(2):492-500
Purpose:
Oncologic and surgical outcomes of robot-assisted nipple-sparing mastectomy (RNSM) compared to conventional nipple-sparing mastectomy (CNSM) is under investigation. This study compared the clinical outcomes of recurrence-free survival and postoperative complication after RNSM and CNSM.
Materials and Methods:
We retrospectively reviewed data of 401 patients who underwent da Vinci Si/Xi/SP-assisted RNSM or CNSM with immediate reconstruction between November 2016 and November 2020 at a single institute. Oncological outcomes were collected until March 2022. Primary endpoints were long-term outcomes, such as local recurrence, distant metastasis, disease-free survival, overall survival, and postoperative complications, while secondary endpoints were pathology results, and oncological outcomes.
Results:
Patients underwent RNSM (n=162) or CNSM (n=239). Of RNSM cases, 9 (5.6%) were performed using the da Vinci Si System, 96 (59.3%) using the da Vinci Xi System, and 57 (35.2%) using the da Vinci SP System. No significant difference in recurrence-free survival was found between the RNSM and CNSM group, and both groups had a median follow-up of 37 months. The recurrence rate in RNSM patients after a median follow-up of 24.5 months was 3.8%, compared with 5.9% in CNSM patients after a median follow-up of 42 months. No difference in recurrence was seen among RNSM patients with respect to surgical systems (multiport vs. SP, p =0.136). In addition, grade III postoperative complication rate was lower in patients with RNSM than in those with CNSM. Transfusion was only applied in 6.2% of patients.
Conclusion
Robot-assisted surgical systems can be safely used to perform nipple-sparing mastectomy in patients with early breast cancer.
7.Intraoperative Visual Evoked Potential Monitoring in Endoscopic Endonasal Surgery for Nonpituitary Adenoma Suprasellar Tumors
Young Nam KWON ; Hwa Reung LEE ; Myung Jae LEE ; Young Ung KIM ; Seung Woo KIM ; Ha Young SHIN ; Sung-Min KIM ; Ju Hyung MOON ; Jong Hee CHANG ; Eui Hyun KIM
Journal of Clinical Neurology 2026;22(2):221-228
Background:
and Purpose Intraoperative visual evoked potential (VEP) monitoring has been studied mainly in pituitary adenoma, while its role in nonpituitary suprasellar tumors has remained unclear. This study evaluated the predictive usefulness of intraoperative VEP monitoring during endoscopic endonasal surgery (EES) and aimed to identify optimal alarm criteria for visual outcomes.
Methods:
We retrospectively analyzed a cohort of 87 patients who underwent EES with intraoperative VEP monitoring between April 2021 and September 2023. Visual outcomes were evaluated preoperatively and at short-term (≤3 months) and long-term (12 months) followups, with visual deterioration at these time points defined as worsening of either visual acuity or the visual field. Reductions in the VEP amplitude were quantified using both the maximum intraoperative decrease and the final amplitude after recovery. Receiver operating characteristic (ROC) curve analyses were performed to identify the optimal alarm thresholds, and the sensitivity, specificity, positive predictive value, and negative predictive value were calculated for short-term and long-term visual deteriorations.
Results:
Short-term and long-term visual deteriorations were detected in 12 (9.2%) and 5 (3.8%) of the 130 analyzed eyes, respectively. ROC curve analyses identified ≥40% and ≥30% reductions in the N75–P100 amplitude as optimal alarm criteria for short-term and long-term visual deteriorations, respectively. A 30% reduction without intraoperative recovery demonstrated markedly higher sensitivity than the conventional 50% alarm threshold for short-term (58.3% vs. 33.3%) and long-term (80.0% vs. 20.0%) outcomes, while maintaining acceptable specificity (82.2% and 80.8%, respectively).
Conclusions
A 30% reduction in amplitude represents a more-sensitive and clinically relevant alarm threshold than a 50% reduction for intraoperative VEP monitoring during EES for nonpituitary suprasellar tumors. Incorporating both the magnitude and recovery pattern of VEP amplitude changes may improve the accuracy of predictions of long-term visual deterioration. However, the potential for false positives warrants cautious interpretation, and further studies are needed to validate the impact of intraoperative VEP monitoring on visual outcomes.
8.Bisphosphonates as a Tacrolimus-Sparing Strategy in Kidney Transplantation: Insights from a Retrospective Analysis
Hee Byung KOH ; Hyo Jeong KIM ; Ga Young HEO ; Namki HONG ; Yaeji LEE ; Seung Hwan SONG ; Hoon Young CHOI ; Chan-Young JUNG ; Hyung Woo KIM ; Jaeseok YANG ; Kyu Ha HUH ; Chung Mo NAM ; Beom Seok KIM
Yonsei Medical Journal 2026;67(1):17-26
Purpose:
Due to chronic toxicity, tacrolimus-sparing is an important issue in kidney transplant recipients (KTRs). Several studies have shown that bisphosphonate use is associated with favorable graft outcomes in KTRs. We investigated whether the association between tacrolimus trough levels (TTLs) and graft outcomes differed according to bisphosphonate use in KTRs.
Materials and Methods:
We conducted a retrospective study encompassing 1441 KTRs who were administered tacrolimus-based immunosuppressants. The primary exposure was a time-dependent cross-product of TTLs (low TTLs vs. normal-high TTLs with a reference of 6 ng/mL) and bisphosphonate use. Two primary outcomes were evaluated: overall graft loss (death or conversion to kidney replacement) and an estimated glomerular filtration rate (eGFR) <30 mL/min/1.73 m 2 .
Results:
During the median follow-up of 6.1 (3.4–9.7) years, overall graft loss occurred in 157 (10.9%) patients. Cox regression revealed that normal-high TTLs without bisphosphonate use were associated with a reduced risk of overall graft loss [adjusted hazard ratio (aHR), 0.65; 95% confidence interval (CI), 0.45–0.95] compared to low TTLs without bisphosphonate use. The use of bisphosphonate in conjunction with normal-high TTLs correlated with an even lower risk of overall graft loss (aHR, 0.25; 95% CI, 0.08–0.80) compared with low TTLs without bisphosphonate use. In patients with low TTLs, bisphosphonate use was associated with a reduced risk of overall graft loss compared with non-use (aHR, 0.20; 95% CI, 0.09–0.43). Similar trends were observed in the eGFR outcome.
Conclusion
The use of bisphosphonate was associated with favorable graft outcomes, even with low TTLs. Incorporating bisphosphonate into a conventional immunosuppressant regimen may potentially reduce tacrolimus requirement.
9.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
10.Lipohemarthrosis of the Hip Joint in Apparently Isolated Greater Trochanter Fractures
Hee Joong KIM ; Kyungpyo NAM ; Jeong Joon YOO ; Hong Seok KIM
Clinics in Orthopedic Surgery 2025;17(2):223-227
Background:
Lipohemarthrosis in the hip joint, a critical indicator for detecting occult femoral neck or acetabular fractures, has not been reported in cases of isolated greater trochanter (IGT) fractures. This study retrospectively reviewed 3-dimensional computed tomography (3D-CT) images of what appeared to be IGT fractures to find out the frequency of lipohemarthrosis and its implication for the necessity of internal fixation.
Methods:
From October 2004 to December 2019, 90 cases of suspected IGT fractures were evaluated using 3D-CT. After excluding 6 cases due to inadequate follow-up and 8 cases with poor imaging quality caused by metallic implants, 76 cases were included in the final analysis. The cohort consisted of 48 women and 28 men, with a mean age of 77 years (range, 39–97 years). The 3D-CT images were meticulously reviewed to identify lipohemarthrosis in the affected hip joints. Additionally, magnetic resonance (MR) images were available for 13 cases.
Results:
Sixty-three cases were IGT fractures; no cortical disruption was detected in the intertrochanteric area on CT images. Of these, 56 cases were successfully treated conservatively. Lipohemarthrosis was detected in 5 cases (7.9%), of which 2 were successfully managed with conservative treatment. The remaining 13 cases were classified as incomplete intertrochanteric fractures, with anterior cortical disruption identified in the intertrochanteric area on CT images. Lipohemarthrosis was observed in 3 of these cases (21.3%). In all cases evaluated with MR imaging (10 IGT fractures and 3 incomplete intertrochanteric fractures), varying degrees of intramedullary intertrochanteric extension were observed. Among these, lipohemarthrosis was detected in only 2 cases of IGT fracture, where the intramedullary extension did not cross the midline on mid-coronal images. One case was surgically fixed, but the other case was treated conservatively with success. Notably, 4 cases with intertrochanteric extension crossing the midline did not exhibit lipohemarthrosis.
Conclusions
Lipohemarthrosis was more frequently observed in incomplete intertrochanteric fractures than in IGT fractures.However, the presence of lipohemarthrosis alone should not be regarded as an indication for internal fixation.

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