Joensenyilmaz5556

Objective Systemic autoinflammatory diseases (SAIDs) may not always present with typical clinical findings of a monogenic disease. We aimed to genetically screen and diagnose these clinically unclassified patients by next-generation sequencing (NGS) analysis. Method A total of 64 patients who had clinical findings of a periodic fever syndrome but did not meet the clinical diagnostic criteria for any SAID or had clinical findings for more than one monogenic SAID were identified as "clinically unclassified SAIDs." NGS panel analysis, including 16 genes, was performed in these patients. Patients, who could not be classified as one of the defined SAID after the result of the NGS gene analysis, were identified as "undefined SAID." Results The most common autoinflammatory symptoms in unclassified SAID patients were abdominal pain (60.9%), arthralgia (48.4%), urticarial rash (43.8%), myalgia (40.6%), oral aphthae (28.1%), and conjunctivitis (20.3%), respectively. In the result of the NGS gene panel screening, pathogagnostic tool in patients with clinically unclassified SAIDs.Introduction/objectives Lifelong urate-lowering therapy (ULT) with xanthine oxidase inhibitors (XOIs), such as allopurinol and febuxostat, is the cornerstone of gout treatment. This study aimed to compare drug persistence between allopurinol and febuxostat as first-line ULT in patients with gout in real practice. Method In this retrospective cohort study, we evaluated 602 patients with gout in whom allopurinol or febuxostat was newly initiated from December 2011 to November 2018 at a tertiary rheumatology centre. Persistence was defined as the duration from the first description date to the end of treatment with XOIs or the end of the study period (November 2019). Results Among the 602 gout patients, the mean age was 60.2 years and 234 (38.9%) patients had tophi. Allopurinol and febuxostat were started in 237 (39.3%) and 365 (60.6%) patients, respectively. During the study period, 282 (46.8%) patients stopped taking XOIs, and the most common reason for XOI withdrawal was poor health literacy (61.3%). The 1- aetter option for long-term ULT in light of medication adherence in a real-world setting.• Patients with gout with tophi and shorter symptom duration were found to be at high risk for poor persistence of XOIs.Objectives To investigate possible associations between rheumatoid arthritis (RA) patient-expressed preferences over anti-tumour necrosis factor (anti-TNF) treatment and clinical and patient-reported outcomes. Methods PANORAMA was a non-interventional, prospective, multicentre, cohort study of 12 months duration, in patients with moderate-to-severe RA who initiated or switched to anti-TNF treatment. After initiation of anti-TNF, patients completed a preferences questionnaire on attributes related to anti-TNF treatment. Satisfaction with treatment was assessed with the Treatment Satisfaction Questionnaire for Medication (TSQM); compliance and persistence to treatment were recorded via a patient diary. Univariate and multivariate analyses were applied to assess correlations between patients' preferences over treatment with clinical and patient-reported outcomes. Results A total of 254 patients were enrolled; 66.1% (168/254) had highly active disease (DAS28-ESR > 5.1), while 65.4% (166/254) were biological-naïve. The 12-month drug-survival rate was 72.3%, while the respective rates of good EULAR response and remission (DAS28-ESR 35 mm/h, HR 1.16, p = 0.071) predicted drug survival. Conclusions In anti-TNF-treated RA patients, fulfilment of treatment preferences was independently associated with a good EULAR response and correlated with drug persistence at 12 months, emphasising the importance of patient preferences in treatment outcomes.Key Points• In anti-TNF treated RA patients, fulfilment of patients' treatment preferences is associated with a good clinical response at 12 months.• A shared decision-making process can maximise treatment's outcome in anti-TNF treated patients.Background Jab1 has been reported to regulate various proteins in signal transduction pathways and be implicated in carcinogenesis or tumor progression. However, the precise role and molecular mechanism of Jab1 in gastric tumorigenesis have not yet been fully elucidated. Methods Jab1 staining in gastric cancer tissues and paired non-cancerous tissues was measured using tissue microarray (TMA) technology. The impact of Jab1 on tumor growth in vivo was analyzed using xenotransplantation experiments in Balb/c mice. The expression of Jab1 and p14ARF in gastric cancer cells was analyzed by western blot and confocal immunofluorescence. CCK-8 and cell cycle experiment were used to evaluate the cell proliferation. NCB-0846 MAP4K inhibitor Ubiquitination assay was performed to validate whether ubiquitination is involved in Jab1-mediated p14ARF degradation. Results The expression level of protein p14ARF was inversely correlated with the protein level of Jab1. Then, we investigated the mechanism that how Jab1 induced p14ARF depletion. Mechanistic studies showed that Jab1 induced ubiquitin-independent proteasomal p14ARF degradation in gastric cancer cells. Our data demonstrated that Jab1 protein was a vital upstream negative modulation factor of p14ARF, and Jab1 could promote cell proliferation and tumor growth via inhibiting the expression of p14ARF in vivo and in vitro. Moreover, silencing Jab1 protein expression declined tumor growth and further increased the apoptosis rate of gastric cancer cells. In further studies of gastric cancer specimens, we found the increased level of Jab1 protein shortened the overall survival. Conclusion Jab1 is upstream of p14ARF and promote gastric cancer cell proliferation in vitro and in vivo. Furthermore, Jab1 decreased the expression of p14ARF though ubiquitination independent proteasomal degradation. Therefore, the connection of Jab1 and p14ARF may provide new methods for the treatment of gastric cancer.Purpose To establish whether new indices on plain chest X-ray (CXR) can replace those on computed tomography (CT) for the follow-up of children who have undergone the Nuss procedure. Methods The subjects of this retrospective study were 45 children who underwent the Nuss procedure between 2000 and 2016. The Haller index (HI) was measured by preoperative CT. Preoperative and postoperative chest deformities were evaluated by two CXR measurements the concave rate on the lateral view (CR; the depth of the concavity divided by the anterior-posterior diameter of the rib cage) and the tracheal bifurcation angle (TBA) on the anterior view. Data are expressed as the median with range. Results The median age and HI of the children, when they underwent the Nuss procedure, was 9.3 (3.8-17.3) years and 4.5 (3.2-10.1), respectively. The preoperative CR was correlated significantly with the HI. The postoperative CR was significantly lower than the preoperative CR [pre 0.17 (0.08-0.37), post 0.09 (0.01-0.18), p less then 0.