Hereditary angioedema(HAE)is a rare autosomal dominant disorder characterized by recur-rent,unpredictable episodes of skin and mucosal edema,which may affect the face,extremities,respiratory tract,gastrointestinal tract,and genitals,with a global prevalence of approximately 1 in 50 000.This case re-port presents a young female patient with a history of recurrent abdominal pain and multisite edema.During an acute episode,laboratory tests revealed decreased complement C4 levels along with reduced concentration and function of C1 esterase inhibitor.Computed tomography(CT)demonstrated bowel wall edema and pelvic effu-sion.Previously undiagnosed,the patient was admitted for this acute attack and was ultimately diagnosed with HAE following a multidisciplinary treatment(MDT)team discussion at our hospital.The rapid diagnosis and treatment of this case highlight the critical role of MDT in the management of complex and rare diseases.

Hereditary angioedema(HAE)is a rare autosomal dominant disorder characterized by recur-rent,unpredictable episodes of skin and mucosal edema,which may affect the face,extremities,respiratory tract,gastrointestinal tract,and genitals,with a global prevalence of approximately 1 in 50 000.This case re-port presents a young female patient with a history of recurrent abdominal pain and multisite edema.During an acute episode,laboratory tests revealed decreased complement C4 levels along with reduced concentration and function of C1 esterase inhibitor.Computed tomography(CT)demonstrated bowel wall edema and pelvic effu-sion.Previously undiagnosed,the patient was admitted for this acute attack and was ultimately diagnosed with HAE following a multidisciplinary treatment(MDT)team discussion at our hospital.The rapid diagnosis and treatment of this case highlight the critical role of MDT in the management of complex and rare diseases.

Alcoholic steatohepatitis (ASH) is a liver disease characterized by steatosis, inflammation, and necrosis of the liver tissue as a result of excessive alcohol consumption. Pregnane X receptor (PXR) is a xenobiotic nuclear receptor best known for its function in the transcriptional regulation of drug metabolism and disposition. Clinical reports suggested that the antibiotic rifampicin, a potent human PXR activator, is a contraindication in alcoholics, but the mechanism was unclear. In this study, we showed that the hepatic expression of fatty acid binding protein 4 (FABP4) was uniquely elevated in ASH patients and a mouse model of ASH. Pharmacological inhibiting FABP4 attenuated ASH in mice. Furthermore, treatment of mice with the mouse PXR agonist pregnenolon-16α-carbonitrile (PCN) induced the hepatic and circulating levels of FABP4 and exacerbated ASH in a PXR-dependent manner. Our mechanism study established FABP4 as a transcriptional target of PXR. Treatment with andrographolide, a natural compound and dual inhibitor of PXR and FABP4, alleviated mice from ASH. In summary, our results showed that the PXR-FABP4 gene regulatory axis plays an important role in the progression of ASH, which may have accounted for the contraindication of rifampicin in patients of alcoholic liver disease. Pharmacological inhibition of PXR and/or FABP4 may have its promise in the clinical management of ASH.

Objective: To explore the activity of auranofin against ovarian cancer cells and its possible molecular mechanism． Methods : The dose-response survival curve and IC50 of auranofin on ovarian cancer cell lines ，SKOV3，Caov3 and SW626 cells and immortalized normal human embryonic kidney HEK-293T cells were determined by CCK-8 method．Cell cycle was determined by flow cytometry．The levels of total glutathione ( GSH) ，reduced GSH and glutathione disulfide ( GSSG) ，thioredoxin reductase (TrxR) and reactive oxygen species (ROS) in cells were determined by microplate reader，and the reduced GSH / GSSG ratio was calculated．Western blot was used to determine the expression of cyclin dependent kinases( CDK) 4，CDK6，Cyclin D1，P53，p-P53 and MDM2 in SKOV3 and Caov3 ovarian cancer cells. Results : Compared with HEK-293T cells，the dose-response survival curves and IC50 values of SKOV3，Caov3 and SW626 cells showed that ovarian cancer cells were more sensitive to auranofin (P＜0. 05) ．After SKOV3 and Caov3 cells were treated with the dose of respective IC50 concentrations of auranofin，compared with the untreated cells group，the Auranofin IC50 group cells' intracellular levels of GSH，the ratio of reduced GSH / GSSG and the activity of TrxR decreased (t = 25. 11 /31. 18，14. 72 /19. 92，43. 30 /10. 74， all P＜0. 05) ，and the levels of ROS increased (t = 23. 82 /27. 71，P＜0. 05) ; cells number at G0 / G1 phases increased，with cells number at S and G2 phases decreased (P＜0. 05) ; and the expression levels of cell cycle-related proteins CDK4，CDK6，Cyclin D1 and the P53-specific E3 ubiquitin ligase MDM2 were down-regulated (t = 7. 51 /15. 59，17. 32 /11. 26，20. 78 /20. 78，24. 25 /17. 32，all P＜0. 05) ，while the expression levels of P53 and p-P53 were up-regulated (t = 17. 32 /24. 25，12. 12 /10. 39，all P ＜0. 05) ． Conclusion Auranofin causes oxidative stress in ovarian cancer cells by inhibiting TrxR activity，and by partially degrading MDM2 to stabilize and acti- vate P53，so as to block the cancer cells in G0 / G1 phase，and exert anti-ovarian cancer activities.

Purpose: The gene expression test (GET) was used to predict the response to chemotherapy and the recurrence risk.Several randomized clinical trials have demonstrated that some patients with node-positive disease can achieve favorable survival outcomes even without adjuvant chemotherapy. This study aimed to predict the results of Oncotype DX (Genomic Health) and MammaPrint (Agendia) using traditional clinicopathological factors. Methods: We reviewed the records of 311 patients who underwent GET for hormone receptor-positive/human epidermal growth factor receptor 2 (HER2)-negative primary invasive breast cancer with node-positive disease between 2015 and 2022 at Severance Hospital and Gangneung Asan Medical Center. Univariate and multivariate logistic regression analyses assessed the relationships between clinicopathological variables and risk stratification using the GET results. Results: A simple scoring system was created by assigning integer values to each variable. A score of 3 was assigned for histological grade 3, a score of 2 for pathologic T2 or above, and a score of 1 for a lower progesterone receptor (1–20 or Alled score 3–6), HER2 2-positive, and high Ki-67 (>20). In the validation cohort, overall accuracy was 0.798 (95% confidence interval, 0.744–0.844). Conclusion The high GET risk results can be predicted using traditional clinicopathological factors: tumor size, progesterone receptor, histological grade, HER2, and Ki-67. These results will be useful for treatment decision-making among clinically high-risk patients with HR-positive/HER2-negative and node-positive disease, helping to identify patients to whom the GET assay may not apply.

This paper describes a community effort to improve earlier versions of the full-text corpus of Genomics & Informatics by semi-automatically detecting and correcting PDF-to-text conversion errors and optical character recognition errors during the first hackathon of Genomics & Informatics Annotation Hackathon (GIAH) event. Extracting text from multi-column biomedical documents such as Genomics & Informatics is known to be notoriously difficult. The hackathon was piloted as part of a coding competition of the ELTEC College of Engineering at Ewha Womans University in order to enable researchers and students to create or annotate their own versions of the Genomics & Informatics corpus, to gain and create knowledge about corpus linguistics, and simultaneously to acquire tangible and transferable skills. The proposed projects during the hackathon harness an internal database containing different versions of the corpus and annotations.

This paper describes a community effort to improve earlier versions of the full-text corpus of Genomics & Informatics by semi-automatically detecting and correcting PDF-to-text conversion errors and optical character recognition errors during the first hackathon of Genomics & Informatics Annotation Hackathon (GIAH) event. Extracting text from multi-column biomedical documents such as Genomics & Informatics is known to be notoriously difficult. The hackathon was piloted as part of a coding competition of the ELTEC College of Engineering at Ewha Womans University in order to enable researchers and students to create or annotate their own versions of the Genomics & Informatics corpus, to gain and create knowledge about corpus linguistics, and simultaneously to acquire tangible and transferable skills. The proposed projects during the hackathon harness an internal database containing different versions of the corpus and annotations.

Objective To evaluate the efficacy of etanercept in active ankylosing spondylitis (AS) pa-tient for 48 weeks by tapering the dosage of etanercept every 12 weeks. Methods 52 patients with active AS were enrolled in this study , and 47 patients finished 48 Weeks of observation. 50 mg etanercept was applied subcutaneously once a week for 12 weeks , and was tapered to 50 mg every two weeks for another 12 weeks , and then 25 mg every two weeks for another 24 weeks. BASDAI, BASFI, BASMI, ASDAS, as well as Serum levels of CRP and ESR were doaunented at week 0, 12, 24 and 48, respectively. Result Among the 47 active AS patients, 40 (85.1%) were male, with mean disease duration of 4.1 ± 3.8 years. After 12 -week treatment with 50 mg etanercept weekly, the scores of BASDAI, BASFI, BASMI, ASDAS, as well as levels of ESR and CRP, declined significantly compared to the baseline (P < 0.05, respectively). Despite of tapering the dosage of etan-ercept gradually, most of the patients (87.2%, 41/47) kept in ASAS 40 response during the following 36 weeks. No severe adverse events were observed during the treatment period. Conclusion This study demonstrat-ed the clinical efficacy of etanercept in patients with active AS. A dosage reduction strategy could maintain the clinical efficacy of etanercept during 48 weeks , which indicates that gradually tapering etanercept might be a po-tential effective, economic and safe way for active AS patients.

Endovascular aneurysm repair (EVAR) of combined abdominal and iliac aneurysm requires exclusion of the hypogastric artery for prevention of endoleak. However, exclusion of the hypogastric artery is often associated with significant ischemic complications such as hip or buttock claudication, gluteal necrosis and bowel ischemia. Several techniques have been introduced to preserve the flow of the hypogastric artery. We report a successful case of external iliac artery-to-hypogastric artery bypass with artificial graft combined with EVAR.
Aneurysm ; Aortic Aneurysm, Abdominal ; Arteries ; Buttocks ; Endoleak ; Hip ; Humans ; Iliac Aneurysm ; Ischemia ; Necrosis ; Transplants

Objective To explore the relationship between Adult-onset Still's disease (AOSD) and macrophage activation syndrome (MAS). Methods A total of 78 patients with AOSD who had completed medical information were included in this study. Eleven patients who were diagnosed as rheumatic disease associated hemophagocytic syndrome among 26 patients who had hemophagocytic syndrome with histological evidence consisted of the MAS group. Clinical and laboratory data were analyzed in 78 patients with AOSD and 11 patients with MAS. Results Among 78 cases of AOSD, 9 patients (12%) could be diagnosed as MAS but didn't have hemophagocytic histological evidence. In the 11 MAS cases with hemophagocytic phenomenon, 6 patients fulfilled the diagnostic criteria of AOSD, 2 cases with panniculitis, 1 case with SLE, 1 case of dermatomyositis and 1 case of systemic vasculitis. Logistic analysis showed that splenomegaly (OR =2.13, 95%CI=1.11-3.42), leukopenia (OR=3.57, 95%CI=2.30～4.86), anaemia (OR=0.85, 95%CI=1.03～2.76), thrombocytopenia (OR=2.98, 95%CI=1.17-4.30) and hypertriglyceridemia (OR=1.66, 95%CI=1.02～2.74) were associated with development of MAS in AOSD. Conclusion The development of MAS in AOSD patient is frequent and hemophagocytic histological evidence could be found in severe cases. When splenomegaly and hypocytomsis present in AOSD patients, bone marrow examination should be done and the level of triglyceride and fibrinogen and activity of NK cells should be measured for early diagnosis.