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  • Wiley  (4)
  • 2020-2024  (4)
  • 2024  (4)
  • 1
    In: Arthritis & Rheumatology, Wiley
    Abstract: To assess the clinical characteristics of patients with cryopyrin‐associated periodic syndrome (CAPS) in Japan and evaluate the real‐world efficacy and safety of interleukin (IL)‐1 inhibitors, primarily canakinumab. Methods Clinical information was collected retrospectively, and serum concentrations of canakinumab and cytokines were analyzed. Results One‐hundred‐and‐one patients were included, with 86 and 15 carrying heterozygous germline and somatic mosaic mutations, respectively. We identified 39 mutation types, and the common CAPS‐associated symptoms corresponded with those in previous reports. Six patients (5.9% of all patients) died, with four of the deaths caused by CAPS‐associated symptoms. Notably, 73.7% of patients (100, 79.6, and 44.4% of familial cold autoinflammatory syndrome: FCAS, Muckle–Wells syndrome (MWS), and chronic infantile neurological cutaneous articular syndrome/neonatal onset multisystem inflammatory disease (CINCA/NOMID), respectively) achieved complete remission with canakinumab, and early therapeutic intervention was associated with better auditory outcomes. In some patients, canakinumab treatment stabilized the progression of epiphysial overgrowth and improved height gain, visual acuity, and renal function. However, 23.7% of patients did not achieve inflammatory remission with crucial deterioration of organ damage, with two dying while receiving high‐dose canakinumab treatment. Serological analysis of canakinumab and cytokine concentrations revealed that the poor response was not related to canakinumab shortage. Four inflammatory non‐remitters developed inflammatory bowel disease unclassified during canakinumab treatment. Dual biologic therapy with canakinumab and anti‐ tumor necrosis factor‐α agents was effective for IBD‐ and CAPS‐associated symptoms not resolved by canakinumab monotherapy. Conclusions This study provides one of the largest epidemiologic datasets for CAPS. While early initiation of anti‐IL‐1 treatment with canakinumab is beneficial for improving disease prognosis, some patients do not achieve remission despite a high serum concentration of canakinumab. Moreover, IBD may develop in CAPS following canakinumab treatment. image
    Type of Medium: Online Resource
    ISSN: 2326-5191 , 2326-5205
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    Language: English
    Publisher: Wiley
    Publication Date: 2024
    detail.hit.zdb_id: 2754614-7
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  • 2
    In: DEN Open, Wiley, Vol. 4, No. 1 ( 2024-04)
    Abstract: Adequate biliary decompression is important in treating bile leaks, and endoscopic transpapillary drainage is widely used for this purpose. As an indicator to evaluate the usefulness of endoscopic drainage for postoperative biliary leakage, we focused on external drain removability, which affects quality of life, after endoscopic treatment. Our aim was to clarify the success rate of external tube removal after endoscopic drainage for postoperative biliary leakage and to examine associated factors. Methods This was a multicenter retrospective study; 99 patients with biliary leakage at 13 institutions were enrolled between April 2014 and March 2019. Among these patients, 66 who were initially treated with endoscopic interventions for biliary leakage after cholecystectomy ( n = 17) or hepatectomy ( n = 49) were reviewed. Results In post‐cholecystectomy biliary leakage, the external‐drain‐free rate at first endoscopic intervention was 100%, and the drains, including transpapillary stents, were successfully removed in almost all cases (16/17). In contrast, in post‐hepatectomy biliary leakage, the external‐drain‐free rate was 44.9% (22/49), with all 22 of those patients eventually becoming entirely drain‐free. A lower body mass index was the only significant factor associated with freedom from external drainage in post‐hepatectomy biliary leakage (odds ratio 0.18, 95% confidence interval 0.05–0.65). Conclusions Initial endoscopic treatment was effective for post‐cholecystectomy biliary leakage, while approximately half of the patients with post‐hepatectomy biliary leakage required multidisciplinary management. Achieving freedom from external drainage contributes to patients’ quality of life and may be a predictor of treatment response after endoscopic therapy for postoperative biliary leakage.
    Type of Medium: Online Resource
    ISSN: 2692-4609 , 2692-4609
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2024
    detail.hit.zdb_id: 3045363-X
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  • 3
    In: IJU Case Reports, Wiley
    Abstract: CHARGE syndrome is a rare disorder that causes congenital abnormalities in multiple organs, including secondary hypogonadism. We report, herein, a unique case of CHARGE syndrome with both primary and secondary hypogonadism and discuss the possible causes and pathogenesis in this patient. Case presentation A 15‐year‐old boy with delayed secondary sexual characteristics and non‐palpable testes was referred to our hospital. Physical examination and detection of a chromodomain‐helicase‐deoxyribonucleic acid‐binding protein 7 gene mutation confirmed CHARGE syndrome. Hormone stimulation tests suggested both primary and secondary hypogonadism. Laparoscopic bilateral orchiectomy was performed because of decreased testosterone production and atrophy in both testes. Pathological examination of the testes revealed maturation arrest, germ cell neoplasm in situ, and decreased expression of steroid synthase. Conclusion This appears to be the first report of CHARGE syndrome with both primary and secondary hypogonadism demonstrated in endocrinological and histological examinations.
    Type of Medium: Online Resource
    ISSN: 2577-171X , 2577-171X
    Language: English
    Publisher: Wiley
    Publication Date: 2024
    detail.hit.zdb_id: 2971934-3
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  • 4
    In: ESC Heart Failure, Wiley
    Abstract: In recent years, there has been remarkable development in machine learning (ML) models, showing a trend towards high prediction performance. ML models with high prediction performance often become structurally complex and are frequently perceived as black boxes, hindering intuitive interpretation of the prediction results. We aimed to develop ML models with high prediction performance, interpretability, and superior risk stratification to predict in‐hospital mortality and worsening heart failure (WHF) in patients with acute heart failure (AHF). Methods and results Based on the Kyoto Congestive Heart Failure registry, which enrolled 4056 patients with AHF, we developed prediction models for in‐hospital mortality and WHF using information obtained on the first day of admission (demographics, physical examination, blood test results, etc.). After excluding 16 patients who died on the first or second day of admission, the original dataset ( n  = 4040) was split 4:1 into training ( n  = 3232) and test datasets ( n  = 808). Based on the training dataset, we developed three types of prediction models: (i) the classification and regression trees (CART) model; (ii) the random forest (RF) model; and (iii) the extreme gradient boosting (XGBoost) model. The performance of each model was evaluated using the test dataset, based on metrics including sensitivity, specificity, area under the receiver operating characteristic curve (AUC), Brier score, and calibration slope. For the complex structure of the XGBoost model, we performed SHapley Additive exPlanations (SHAP) analysis, classifying patients into interpretable clusters. In the original dataset, the proportion of females was 44.8% (1809/4040), and the average age was 77.9 ± 12.0. The in‐hospital mortality rate was 6.3% (255/4040) and the WHF rate was 22.3% (900/4040) in the total study population. In the in‐hospital mortality prediction, the AUC for the XGBoost model was 0.816 [95% confidence interval (CI): 0.815–0.818], surpassing the AUC values for the CART model (0.683, 95% CI: 0.680–0.685) and the RF model (0.755, 95% CI: 0.753–0.757). Similarly, in the WHF prediction, the AUC for the XGBoost model was 0.766 (95% CI: 0.765–0.768), outperforming the AUC values for the CART model (0.688, 95% CI: 0.686–0.689) and the RF model (0.713, 95% CI: 0.711–0.714). In the XGBoost model, interpretable clusters were formed, and the rates of in‐hospital mortality and WHF were similar among each cluster in both the training and test datasets. Conclusions The XGBoost models with SHAP analysis provide high prediction performance, interpretability, and reproducible risk stratification for in‐hospital mortality and WHF for patients with AHF.
    Type of Medium: Online Resource
    ISSN: 2055-5822 , 2055-5822
    Language: English
    Publisher: Wiley
    Publication Date: 2024
    detail.hit.zdb_id: 2814355-3
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