RATIONALE: Filaggrin (FLG) mutations are strongly linked to Atopic Dermatitis (AD) and AD severity. FLG mutations may also be predisposed to S. aureus colonization because of reduced FLG end products with antistaphylococcal properties. We propose FLG mutations as risk factors for staph phenotypes in AD subjects. METHODS: Four common FLG null mutations (2282del4, R501X, R2447X, S3247X) were genotyped in 423 S. aureus colonized (ADStaph+) and 544 S.aureus non-colonized (ADStaph-) European American (EA) AD subjects. ADStaph+ grew S. aureus from skin swabs obtained at lesional or non-lesional sites; ADStaph-had no growth. Disease severity was assessed by Eczema Area and Severity Index (EASI). Contribution of FLG mutations to S. aureus colonization in mild, moderate and severe AD was assessed by including interaction between EASI and FLG mutations in logistic regression models adjusting for total IgE, age, and sex. Similar analyses were performed for staph culture scoring (1-4). RESULTS: The R501X effect (minor allele frequency [MAF]512.7%) on S. aureus colonization was modified by EASI (P50.002). In subjects with severe and mild AD, odds of S. aureus colonization were 2.09 fold higher and 0.36 fold lower, respectively, in carriers than noncarriers for R501X. Culture score was also modified by EASI for R501X carriers versus noncarriers (severe OR51.47; mild OR50.59; P50.015). No association was observed between 2282del4, R2447X, or S3247X (MAF:14.8%, 2.6%, 2.1%; respectively) and S. aureus colonization. CONCLUSIONS: Evidence suggests R501X mutation affects susceptibility to S. aureus colonization in EA AD patients but this effect is lost in milder disease. Analyses are underway in ethnically diverse populations.
No abstract
Objective:Our research aims to discuss the clinical characteristics, treatment methods, and prognostic characteristics of patients with esophageal cancer spinal metastasis. It is one of the largest clinical studies on the disease to date. The purpose is to improve clinicians’ understanding of the clinical features and prognosis of esophageal spine metastases and share our experience in dealing with this entity.Methods: Six patients with spinal metastasis due to esophageal cancer who had received surgical treatment at the bone tumor center of Peking Union Medical College Hospital from January 2010 to January 2020 were selected. The clinical data, surgical records, imaging examinations, pathological reports, and immunohistochemical results of all patients were reviewed by the team. In the study, we applied two surgical treatments, namely open surgery and percutaneous vertebroplasty. Radiotherapy, chemotherapy, and targeted therapy were used as adjuvant treatments. Retrospective analysis of the patient’s basic clinical data was done.Results:All six patients with metastatic spinal esophageal cancer (MSEC) were male with an average age of 58.0 ± 5.3 years. The average duration between the esophageal cancer resection and diagnosis of spinal metastases was 24.8 (2-72) months. Of the six patients, four had spinal metastases located in the thoracic spine and two had metastases located in the lumbar spine. We referred to the revised Tokuhashi score and Tomita score to recommend individualized surgical treatment plans for patients, and fully respected the patients’ wishes. All six patients underwent surgical treatment, a total of six operations, including four percutaneous vertebroplasty and two open surgery. After the operations, the symptoms of the patients improved significantly. During the follow-up, all six patients died of the disease with the average time from spinal surgery to death being 8.8 ± 3.7 months.Conclusions: In general, patients with esophageal cancer spine metastases have a poor prognosis, and the average survival time of these patients often does not exceed 12 months. The combination of surgical treatment and postoperative adjuvant therapy can control symptoms effectively and improve the patient’s quality of life.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.