Autoimmune hemolytic anemia (AIHA) is a rare immune-mediated disorder in children that can present as primary or secondary to other diseases. Here, we report an unusual case of steroid-refractory warm AIHA in an 11-year-old girl whose condition was ultimately cured after removal of a benign ovarian tumor. Despite receiving multiple lines of therapy—including corticosteroids, rituximab, cyclosporine, sirolimus, and mycophenolate mofetil—the patient experienced recurrent hemolysis and steroid dependence for nearly four years. Abdominopelvic imaging performed to evaluate fever revealed bilateral ovarian cystic lesions, including a left-sided dermoid cyst. Surgical resection of the tumor led to complete and sustained hematologic remission, with normalization of hemoglobin, bilirubin, and reticulocyte counts, allowing discontinuation of all immunosuppressive agents. No recurrence of hemolysis was observed during 18 months of follow-up. This case highlights the potential for benign ovarian tumors to act as a rare secondary cause of AIHA through paraneoplastic or immune cross-reactive mechanisms. Awareness of such associations is crucial when evaluating pediatric patients with refractory or relapsing AIHA, as identification and removal of an occult tumor may achieve definitive resolution of hemolysis and avoid long-term immunosuppression.

Secondary rhabdoid tumors (RTs) with atypical teratoid/rhabdoid tumor-like features rarely arise from, or coexist with, pleomorphic xanthoastrocytomas (PXAs), and their clinicopathological and molecular characteristics remain poorly understood. We report a 17-year-old girl with a temporal lobe mass that, upon gross total resection, pathologically contained both RT and PXA components. Immunohistochemistry revealed loss of INI1 expression restricted to the RT component, while the PXA area retained INI1. Next-generation sequencing identified a shared BRAF::TRIM24 fusion and homozygous deletion of CDKN2A/2B in both components, indicating a shared clonal origin. Additionally, a germline ATM frameshift mutation (c.5288_5289insGA) was identified in both tumor components, making the first such report in central nervous system tumors. SMARCB1 loss was confined to the RT component, further supporting the hypotheses of clonal evolution and secondary transformation. Despite gross total resection, craniospinal irradiation, and chemotherapy, the patient developed rapid leptomeningeal dissemination and died 5 months after surgery. This case provides clinicopathological and molecular evidence for clonal evolution and secondary transformation of PXA into an RT. The presence of germline ATM mutation may have therapeutic and biological relevance. Further studies are required to clarify the pathogenesis and optimal management of these rare and aggressive tumors.

Background: The Dejour classification is widely accepted for grading the severity of trochlear dysplasia. However, whether it serves as a reliable prognostic marker for patellar instability surgery or a guide for clinical decision-making has yet to be established. Medial patellofemoral ligament (MPFL) reconstruction, with or without tibial tubercle osteotomy (TTO), yields comparable outcomes across Dejour grades. Nonetheless, we hypothesized that specific trochlear parameters would be more significant predictors of surgical results. Methods: This study included patients who underwent MPFL reconstruction, with or without TTO, for recurrent patellar dislocation at a single institution between 2010 and 2023. Patients with at least 1 year of follow-up were included. Preoperative demographics, radiographic measurements such as sulcus angle, lateral trochlear inclination (LTI), and trochlear depth, patient-reported outcome measures (PROMs), and intraoperative findings including cartilage status were analyzed. Severe trochlear dysplasia (STD) was categorized as Dejour B/D, while non-STD encompassed all other cases, and these 2 groups were compared. Postoperative PROMs were assessed at 1 year postoperatively and at the final follow-up. A noninferiority test was performed using Kujala, Lysholm, and International Knee Documentation Committee (IKDC) scores, with the inferiority margin defined by the minimal clinically important difference (MCID). Linear relationships between LTI, a widely used indicator of trochleoplasty, and PROMs were evaluated. Additionally, differences in the proportion of patients achieving MCID, substantial clinical benefit, and patient-acceptable symptom state were analyzed using odds ratios. Results: Forty-two knees (41 patients) were finally enrolled. Radiographic measurements, except for LTI at the most proximal trochlea, showed no significant differences between the STD and non-STD groups. Clinical outcomes also demonstrated no significant differences between the 2 groups, and noninferiority was confirmed. When analyzed based on LTI, no differences in PROMs were observed at the postoperative 1 year. However, at the final follow-up (mean, 37.27 months), the most proximal trochlear LTI showed significant correlations with both Kujala and Knee Injury and Osteoarthritis Outcome Score over the follow-up period. Conclusions MPFL reconstruction, with or without TTO, leads to similar clinical improvements for STD classified by Dejour criteria. However, when assessed using proximal LTI, dysplasia’s role as a prognostic factor should be considered.

Background/Aims: Chronic kidney disease (CKD) is a significant health problem worldwide, and identifying risk factors for CKD is crucial. We investigated the association between steatotic liver disease (SLD) and the incidence of CKD. Methods: This longitudinal cohort study involved 70,361 adults who did not have CKD at baseline and who underwent at least two health checkups. SLD status was assessed via ultrasonography. The severity of SLD was determined using the Fibrosis-4 score. CKD was defined as an estimated glomerular filtration rate <60 mL/min/1.73 m 2 . Results: Over 475,835 person-years (mean 6.8 years), 2,723 participants developed CKD.The adjusted hazard ratio (aHR) for development of CKD in participants with SLD compared to those without SLD was 1.17 (95% confidence interval [CI], 1.08 to 1.27), with the risk increasing with SLD severity. The aHR (95% CI) for incident CKD was 0.84 (0.51 to 1.37) for cryptogenic SLD, 1.25 (1.16 to 1.36) for metabolic dysfunction-associated SLD (MASLD), and 1.32 (1.01 to 1.73) for metabolic dysfunction-associated alcoholic liver disease (MetALD) compared with participants without SLD. Within these SLD subclassifications, the risk of CKD development was increased as disease severity advanced. Conclusions SLD was linked to a higher incidence of CKD, with the CKD risk increasing sequentially from cryptogenic SLD to MASLD and MetALD. Advanced fibrosis in each SLD subclassification further increases the risk of CKD. Stratifying SLD according to metabolic dysfunction, significant alcohol intake, and fibrosis severity may help identify and monitor individuals at high risk of developing CKD.

Janus kinase (JAK) inhibitors are an important treatment option for ulcerative colitis, providing rapid onset of action, oral administration, and efficacy even after biologic failure. The 3 approved agents—tofacitinib, filgotinib, and upadacitinib—differ in JAK isoform selectivity, leading to clinically meaningful differences in efficacy and safety. Evidence from network meta-analyses, clinical trials, and real-world studies consistently shows that upadacitinib provides the highest efficacy for induction and maintenance of remission, whereas filgotinib demonstrates the most favorable safety profile. The strong efficacy of upadacitinib and tofacitinib is particularly relevant in patients with severe disease, including acute severe ulcerative colitis, and upadacitinib maintains high efficacy regardless of prior advanced therapy exposure. JAK inhibitors also benefit extraintestinal manifestations. Although risks such as herpes zoster, serious infection, thromboembolism, and major cardiovascular events differ among agents, long-term data suggest generally acceptable safety when used appropriately. Intraclass JAK-to-JAK cycling is feasible, with about half of patients achieving steroid-free clinical remission in retrospective cohorts. Based on mechanistic, clinical, and real-world evidence, filgotinib may be a first-line option for patients with lower disease activity or when safety is a priority, whereas upadacitinib or tofacitinib may be preferred in higher disease activity. Strategically selecting agents may improve durability and outcomes.

Background: and Purpose Criteria for amyloid-related imaging abnormalities in anti-amyloid therapy are based on T2* gradient-recalled echo (GRE), but susceptibility-weighted imaging (SWI) is widely used, creating uncertainty. This study quantitatively compared the detectability of SWI and GRE for cerebral microbleeds and established evidence supporting distinct microbleed criteria for each. Methods: A systematic review and meta-analysis were conducted following PRISMA guidelines. PubMed and Embase were searched for studies directly comparing SWI and GRE up to August 8, 2024. Study quality was assessed with QUADAS-2. The pooled proportion of microbleed detection and detection ratio were calculated. Subgroup analyses were performed based on magnetic field strength (1.5 T vs. 3 T) and SWI slice thickness (<2 mm vs. ≥2 mm), equipment vendor, and study quality. Results: Thirteen studies were included. SWI detected cerebral microbleeds approximately 1.6times more effectively than GRE. At 3.0 T and 1.5 T, SWI exhibited 1.7-fold and 1.5-fold greater detectability, respectively. SWI with thinner slices (<2 mm) showed a 1.9-fold improvement, while thicker slices (≥2 mm) showed a 1.3-fold improvement. Subgroup analyses revealed no significant differences between vendors (0.61 vs. 0.60, p=0.89), or by study quality (0.61 vs. 0.59,p=0.89). Conclusions SWI detects cerebral microbleeds about 1.6 times more effectively than GRE, highlighting important differences between the two techniques. Cautious exploration of adjusted thresholds may be needed, and prospective validation in therapy-specific cohorts will be essential before clinical application.

Background: and Purpose Whole-exome sequencing (WES) is a valuable tool for identifying causative mutations in adult moyamoya disease (MMD), thereby advancing our understanding of the genetic mechanisms underlying this condition. Here, we conducted the first WESbased association study aimed at identifying genetic modifiers implicated in MMD. Methods: This WES study involved 160 patients with MMD and 189 controls from a multicenter hospital-based biobank, and evaluated combined annotation-dependent depletion (CADD) scores. Mutant-allele frequencies were compared in 369,121 individuals derived from the UK Biobank (UKB) WES. Mutant-allele risk scores (MARSs) were created based on WESidentified mutations. Gene-based association analyses and pooled analyses in East-Asian populations were further performed. Results: Fourteen mutations reached the genome-wide significance criterion (p<5×10-8 ), among which the p.R4810K mutation in the ring finger protein 213 gene (RNF213) showed the strongest significance (odds ratio=117.4, p=8.54×10-24 ). Notably, two mutations—p.G576S (alpha-glucosidase [GAA]) and p.D54N (charged multivesicular body protein 6 [CHMP6])— exhibited high CADD scores of 32 and 25, respectively, whereas the RNF213 p.R4810K mutation demonstrated a moderate deleteriousness score of 10.63. Fourteen mutations exhibited significant differences in allele frequencies between patients and UKB controlled data (p<1×10-8 ).The MARS9 model (incorporating nine missense mutations) showed better predictability for MMD (90.89%). The analysis of gene-based associations revealed four candidate genes: GAA, RNF213, CHMP6, and CARD14 (p=5×10-19 to 4×10-7 ). The subsequent pooled analyses validated four mutations in East Asian populations: p.V1195M, p.D1331G, p.S2334N, and p.R4810K (p<3×10-8 ). Conclusions This pioneering study has corroborated the significance of p.R4810K and identified several causative mutations predisposing patients to MMD, which helps to improve the understanding of its polygenetic nature.

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.

Background/Aims: Gastric antral vascular ectasia (GAVE) is a rare but important cause of gastrointestinal (GI) bleeding. The clinical course of GAVE is not well-known, and recurrent bleeding from GAVE is a therapeutic challenge. Therefore, we investigated the clinical course of GAVE and identified the risk factors for bleeding from it. Methods: We retrospectively reviewed the records of patients diagnosed with GAVE using upper GI endoscopy at Asan Medical Center between January 2004 and December 2019 and evaluated the clinical course and risk factors for bleeding from GAVE. Results: Of the 348 patients (mean age, 62.3 ± 10.7 years; male, 62%), bleeding from GAVE occurred in 123 (35%) patients during follow-up (median, 17.3 months; interquartile range [IQR], 4.2–46.6). GI bleeding from GAVE was significantly associated with Child–Pugh class B or C liver cirrhosis (odds ratio [OR], 2.55; 95% confidence interval [CI], 1.57–4.16), chronic kidney disease (CKD) (OR, 2.77; 95% CI, 1.52–5.07), use of antithrombotic agents (OR, 2.34; 95% CI, 1.13–4.82), and involvement of the duodenal bulb (OR, 3.21; 95% CI, 1.76–5.86). Rebleeding occurred in 39 of 123 patients (32%), in whom CKD (OR, 2.55; 95% CI, 1.12–5.81) was significantly associated with rebleeding. Endoscopic hemostasis was most commonly performed using argon plasma coagulation, and the median number of endoscopic hemostasis performed was 2 (IQR, 1–3). Conclusions A careful follow-up for bleeding is needed in GAVE patients with liver cirrhosis, CKD, use of antithrombotic agents, and duodenal bulb involvement.

Background: Enzyme immunoassays (EIAs), which detect glutamate dehydrogenase (GDH) and toxin A/B, are widely used to screen for Clostridioides difficile infection (CDI); however, their sensitivity is lower than that of molecular assays. This study aimed to evaluate the performance of two EIAs, C. Diff Quik Chek Complete (QCC) and RIDASCREEN (RIDA), and investigate the cycle threshold (Ct) values from two real-time polymerase chain reaction (PCR) assays (Allplex GI–Bacteria(I) and Xpert C. difficile) in EIA-discordant samples. Methods: A total of 180 clinical stool samples were tested using QCC, RIDA, and Allplex GI– Bacteria(I) PCR assays. The Xpert C. difficile assay was used to analyze discordant results. Results: QCC and RIDA showed high sensitivities for GDH detection, 100.0% and 94.4%, respectively. QCC was significantly more sensitive than RIDA for toxin detection (51.4% vs. 28.6%, p = 0.007). In 25 EIA-discordant, Xpert positive samples, the Ct values of the toxin B gene ranged from 31.5 to 44.8 (mean, 38.1) for Allplex PCR and from 23.7 to 36.3 (mean, 30.4) for Xpert PCR. The Ct values of the two PCR assays were not significantly correlated (r = 0.201, p = 0.324). Conclusion QCC is a suitable initial immunological test for diagnosing CDI. The lack of correlation in the Ct values between the two real-time PCR assays suggests that assay-specific validation is necessary for cutoff level interpretation.