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.

Background: Varus malalignment is a risk factor for nonunion and mechanical complications in subtrochanteric femoral fractures (SFFs). Although various reduction techniques have been reported to avoid varus malalignment in SFFs, achieving anatomic reduction remains challenging, often resulting in residual varus alignment (RVA) after reduction. This study aimed to investigate the radiographic and clinical outcomes of a novel method resolving RVA by abducting the ipsilateral hip after cephalomedullary fixation with an intramedullary nail and subsequently inserting distal interlocking screws. Methods: This retrospective study, conducted between March 2016 and March 2022, included patients who underwent hip abduction during intramedullary nailing due to RVA. Demographics and fracture patterns (Arbeitsgemeinschaft für Osteosynthesefragen/Orthopedic Trauma Association [AO/OTA]) and types (typical or atypical) were analyzed. Radiographic outcomes included Baumgaertner reduction quality criteria (BRQC), tip-apex distance (TAD), neck-shaft angle (NSA), lateral cortex residual gap, union, and time to union. Clinical outcomes included ambulatory level using the Palmer-Parker Mobility Score (PPM), complications, and reoperation. Results: This study included 45 patients (mean age, 65.8 years; mean follow-up period, 18.4 months). The most common fracture pattern was 32A2 in 15 patients and 29 were typical and 16 were atypical fractures. The BRQC was good in 36 patients, and TAD was < 25 mm in 43 patients. Pre-abduction NSA (126.0° ± 3.8°) was significantly smaller than post-abduction NSA (129.9° ± 3.4°, p < 0.001). Post-abduction NSA was comparable to contralateral NSA of 128.9° ± 2.8° (p = 0.155). Residual gap was significantly reduced from 6.1 ± 2.9 mm pre-abduction to 1.7 ± 1.0 mm post-abduction (p < 0.001). Union was achieved in 44 patients (97.8%;mean duration, 5.9 months). PPM decreased from 7.8 ± 2.0 pre-injury to 7.0 ± 2.1 1-year postoperatively. One nonunion case required reoperation. Radiographic outcomes did not significantly differ by fracture pattern (p = 0.470 for NSA and p = 0.334 for residual gap). Conclusions Hip abduction during intramedullary nailing corrects alignment and reduces the gap in SFFs with residual varus alignment. This method can be applied to various fracture patterns in a straightforward manner and considered valuable for managing SFFs.

Background: Allograft is predominantly used interbody spacers for anterior cervical discectomy and fusion (ACDF). The corticocancellous allograft has weaker mechanical strength as it is an artificial composite of the cancellous and cortical parts. Additionally, whether utilizing a firmer allograft, such as the cortical ring, leads to better outcomes is unclear. Therefore, we aimed to compare the surgical outcomes of cortical ring and cortico-cancellous allografts in ACDF. Methods: Patients who underwent ACDF using allograft and were followed up for > 1 year were retrospectively reviewed. Patient characteristics, including fusion rates (assessed by interspinous motion [ISM], intra-graft bone bridging, and extra-graft bone bridging), subsidence, allograft complications (e.g., allograft fracture and resorption), and patient-reported outcome measures (neck pain visual analog scale [VAS], arm pain VAS, and neck disability index), were assessed. Patients were divided into 2 groups based on the allograft used: cortical ring and cortico-cancellous allograft groups. Subgroup analysis was subsequently conducted in singleand multi-level operation groups. Results: A total of 227 patients were included. Of them, 134 (59.0%) and 93 (41.0%) underwent ACDF using cortical ring and corticocancellous allograft, respectively. In single-level operations, the cortico-cancellous allograft significantly frequented allograft resorption (24 / 66, 36.4%) than the cortical ring allograft (1 / 28, 3.7%) (p = 0.001). The cortico-cancellous allograft group demonstrated significantly greater subsidence. However, the fusion rates did not significantly differ between the 2 groups. In multi-level operations, the cortico-cancellous allograft (5 / 27, 18.5%) resulted in a significantly higher fracture rate than the cortical ring allograft (5 / 105, 4.7%) (p = 0.030). The fusion rate at 1-year postoperative assessed using ISM (63.2% vs. 55.5%) and intra-graft bone bridging (66.7% vs. 40.7%) was higher in the cortical ring group; however, the difference was not significant. The patient-reported outcomes at 1-year postoperative did not demonstrate significant intergroup differences both in single- and multi-level operations. Conclusions Allograft resorption or fracture occurs more frequently with cortico-cancellous than cortical ring allografts. Despite the frequent occurrence of allograft-related complications with cortico-cancellous allografts, the fusion rate was not significantly affected. Due to the higher rate of allograft resorption or fractures and greater subsidence with cortico-cancellous allografts, cortical ring allografts might yield more stable results in ACDF.

Background: A 24-item early-onset scoliosis questionnaire (EOSQ-24) has been developed as a valid tool for assessing the physical and emotional function of patients with early-onset scoliosis (EOS). Previous studies that conducted transcultural adaptation of the original EOSQ-24 into other languages have demonstrated the high reliability of the questionnaire. However, a Korean version of the EOSQ-24 is not available, limiting optimal patient assessment in this nation. Therefore, this study was conducted to develop and validate a Korean version of EOSQ-24. Methods: The original English version of the EOSQ-24 was cross-culturally adapted following standard guidelines. The final version of the Korean EOSQ-24 was prospectively applied to a group of patients who were native Korean speakers. Internal consistency was evaluated using the Cronbach α coefficient and item-total correlations. The mean, standard deviation, floor effect, and ceiling effect of each item were also assessed. Results: A total of 102 caregivers of patients with EOS (45 males and 57 females) completed the Korean EOSQ-24. The patients’ average age was 6.39 ± 2.16 years. The Cronbach α coefficient for the 24-item scale was 0.942, indicating excellent reliability. The corrected item-total correlation coefficients ranged between 0.449 and 0.788. The mean value of the EOSQ-24 questionnaire was 3.19. Floor and ceiling effects for all questionnaires were below 30%, which could be considered acceptable. Conclusions Our study successfully developed and validated the Korean version of the EOSQ-24, providing a reliable instrument for assessing the physical and emotional well-being of patients with EOS and their caregivers in the Korean context. The widespread adoption of the Korean EOSQ-24 in clinical practice and research settings can enhance the quality of care and improve outcomes for individuals affected by EOS in Korea.

Background: Strain elastography (SE) and shear wave elastography (SWE) are emerging techniques for evaluating the elasticity of soft tissue. This study aimed to determine interobserver and intraobserver reliability for elasticity measurements of different tissues and anatomic locations using SE and SWE. Methods: Ten healthy adult male individuals with 20 upper extremities participated in this study. The elasticities of the wrist extensor muscle, the common extensor tendon, and supraspinatus tendon were measured. Strain ratio and shear wave velocity were measured twice by 2 different examiners (examiner 1 with over 20 years of experience in musculoskeletal sonography and examiner 2 with 1 year of experience). Interobserver and intraobserver reliability was assessed using the intraclass correlation coefficient (ICC). Results: The 10 individuals’ age ranged from 28 to 35 years. In SE, interobserver reliabilities at the 3 anatomic locations (wrist extensor muscle, common extensor tendon, and supraspinatus tendon) showed fair to moderate agreement (ICC = 0.489, p = 0.076;ICC = 0.408, p = 0.131; and ICC = 0.296, p = 0.711, respectively). The intraobserver reliabilities of examiner 1 were moderate to substantial only at the wrist extensor muscle and the common extensor tendon (ICC = 0.563, p = 0.039 and ICC = 0.702, p = 0.006, respectively). In SWE, interobserver reliabilities for the wrist extensor muscle and the supraspinatus tendon were moderate to substantial (ICC = 0.756, p = 0.002 and ICC = 0.565, p = 0.039, respectively). The intraobserver reliabilities of examiner 1 at the 3 anatomic locations were almost perfect (ICC = 0.843, p = 0.001; ICC = 0.800, p = 0.001; and ICC = 0.825, p = 0.001, respectively).The results of examiner 2 showed almost perfect agreement at the wrist extensor muscle (ICC = 0.886, p = 0.001) and moderate to substantial agreement at the tendons of the common extensor and supraspinatus (ICC = 0.592, p = 0.029 and ICC = 0.682, p = 0.008, respectively). Conclusions SWE is a reliable method for assessing the flexibility of soft tissue, but it is affected by expertise and the specific anatomical site.

Background: The associations between thyroid cancer and skeletal outcomes have not been thoroughly investigated. We aimed to investigate the risk of osteoporotic fractures in patients with thyroid cancer compared to that in a matched control group. Methods: This retrospective cohort study included 2,514 patients with thyroid cancer and 75,420 matched controls from the Korean National Health Insurance Service-National Sample Cohort (NHIS-NSC, 2006–2019). The rates of osteoporotic fractures were analyzed, and associations with the levothyroxine dose were evaluated. Results: Patients with thyroid cancer had a significantly lower risk of fracture than did the control group (hazard ratio [HR], 0.81; 95% confidence interval [CI], 0.69 to 0.94; P=0.006). Patients diagnosed with thyroid cancer after the age of 50 years (older cancer group) had a significantly lower risk of fracture than did those in the control group (HR, 0.72; 95% CI, 0.6 to 0.85; P<0.001), especially those diagnosed with spinal fractures (HR, 0.66; 95% CI, 0.51 to 0.85; P=0.001). Patients in the older cancer group started osteoporosis treatment earlier than did those in the control group (65.5±7.5 years vs. 67.3±7.6 years, P<0.001). Additionally, a lower dose of levothyroxine was associated with a reduced risk of fractures. Conclusion In the clinical setting, the risk of fracture in women diagnosed with thyroid cancer after the age of 50 years was lower than that in the control group, which was caused by more proactive osteoporosis treatment in postmenopausal women with thyroid cancer.

Emerging evidence suggests that systemic inflammation may play a critical role in neurological disorders. Recent studies have shown the connection between inflammatory bowel diseases (IBD) and neurological disorders, revealing a bidirectional relationship through the gut-brain axis.Immunotherapies, such as Treg cells infusion, have been proposed for IBD. However, the role of adaptive immune cells in IBD-induced neuroinflammation remains unclear. In this study, we established an animal model for IBD in mice with severe combined immune-deficient (SCID), an adaptive immune deficiency, to investigate the role of adaptive immune cells in IBD-induced neuroinflammation. Mice were fed 1%, 3%, or 5% dextran sulfate sodium (DSS) for 5 days. We measured body weight, colon length, disease activity index (DAI), and crypt damage. Pro-inflammatory cytokines were measured in the colon, while microglial morphology, neuronal count, and inflammatory cytokines were analyzed in the brain. In the 3% DSS group, colitis symptoms appeared at day 7, with reduced colon length and increased crypt damage showing colitis-like symptoms. By day 21, colon length and crypt damage persisted, while DAI showed recovery. Although colonic inflammation peaked at day 7, no significant increase in inflammatory cytokines or microglial hyperactivation was observed in the brain. By day 21, neuroinflammation was detected, albeit with a slight delay, in the absence of adaptive immune cells. The colitis-induced neuroinflammation model provides insights into the fundamental immune mechanisms of the gut-brain axis and may contribute to developing immune cell therapies for IBD-induced neuroinflammation.

Background/Aims: Inaccurate prediction of lymph node metastasis (LNM) may lead to unnecessary surgery following endoscopic resection of T1 colorectal cancer (CRC). We aimed to validate the usefulness of artificial intelligence (AI) models for predicting LNM in patients with T1 CRC. Methods: We analyzed the clinical data, laboratory results, pathological reports, and endoscopic findings of patients who underwent radical surgery for T1 CRC. We developed AI models to predict LNM using four algorithms: regularized logistic regression classifier (RLRC), random forest classifier (RFC), CatBoost classifier (CBC), and the voting classifier (VC). Four histological factors and four endoscopic findings were included to develop AI models. Areas under the receiver operating characteristics curves (AUROCs) were measured to distinguish AI model performance in accordance with the Japanese Society for Cancer of the Colon and Rectum guidelines. Results: Among 1,386 patients with T1 CRC, 173 patients (12.5%) had LNM. The AUROC values of the RLRC, RFC, CBC, and VC models for LNM prediction were significantly higher (0.673, 0.640, 0.679, and 0.677, respectively) than the 0.525 suggested in accordance with the Japanese Society for Cancer of the Colon and Rectum guidelines (vs RLRC, p<0.001; vs RFC, p=0.001; vs CBC, p<0.001; vs VC, p<0.001). The AUROC value was similar between T1 colon versus T1 rectal cancers (0.718 vs 0.615, p=0.700). The AUROC value was also similar between the initial endoscopic resection and initial surgery groups (0.581 vs 0.746, p=0.845). Conclusions AI models trained on the basis of endoscopic findings and pathological features performed well in predicting LNM in patients with T1 CRC regardless of tumor location and initial treatment method.

Background/Aims: Early colorectal cancer (ECC) is commonly resected endoscopically. Perforation is a devastating complication of endoscopic resection. We aimed to identify the characteristics and predictive risk factors for perforation related to endoscopic resection of ECC. Methods: This nationwide retrospective multicenter study included patients with ECC who underwent endoscopic resection. We investigated the demographics, endoscopic findings at the time of treatment, and histopathological characteristics of the resected specimens. Logistic regression analysis was used to investigate the clinical factors associated with procedure-related perforations. Survival analysis was conducted to assess the impact of perforation on the overall survival of patients with ECC. Results: This study included 965 participants with a mean age of 63.4 years. The most common endoscopic treatment was conventional endoscopic mucosal resection (n=573, 59.4%), followed by conventional endoscopic submucosal dissection (n=259, 26.8%). Thirty-three patients (3.4%) experienced perforations, most of which were managed endoscopically (n=23/33, 69.7%). Patients who undergo endoscopic submucosal dissection-hybrid and precut endoscopic mucosal resection have a higher risk of perforation than those who undergo conventional endoscopic mucosal resection (odds ratio, 78.65 and 39.72, p<0.05). Procedure-related perforations were not associated with patient survival. Conclusions Perforation after endoscopic resection had no significant impact on the prognosis of ECC. The type of endoscopic resection was a crucial predictor of perforation. Large-scale prospective studies are needed to further investigate endoscopic resection of ECC.