Background: Juvenile idiopathic arthritis (JIA) is a chronic inflammatory arthritis of unknown origin which can be considered an autoimmune disease (AD). The aim of this study is to analyse the presence of two or more autoimmune diseases (polyautoimmunity) in patients suffering from JIA and to evaluate the occurrence of ADs in their families.
Methods: Seventy-nine patients diagnosed with JIA aged 0-21 years, admitted to the Paediatric Rheumatology Unit, Sant'Orsola-Malpighi Hospital, Bologna were screened for ADs. Parents were asked about the presence of ADs in the living relatives of first and second degree.
Results: Twelve of 79 patients (15.2%) had at least 1 AD associated with JIA. Eight patients (10.1%) suffered from autoimmune thyroid disease (AITD), three patients had celiac disease, three patients suffered from psoriasis, one from alopecia and 1 from insulin-dependent diabetes mellitus. The average age at diagnosis was 13.2 years and the cumulative incidence of AITD was 36%. Seventy-six families were studied for a total of 438 relatives. The prevalence of ADs was 13%, greater in first-degree relatives (16.7%) than in second-degree ones (11.1%). The most common AD was AITD; there was no difference in JIA's age of presentation between patients with positive and negative familiarity with ADs (p > 0.05).
Conclusion: Children and adolescents with JIA present a high autoimmunity burden, most commonly represented by AITD. Familial autoimmunity is not negligible in patients suffering from JIA (almost 50% of patients have at least one relative with an AD) and it should always be carefully examined.
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http://dx.doi.org/10.1186/s13052-017-0373-9 | DOI Listing |
DNA Repair (Amst)
January 2025
Cancer Cytogenomic Laboratory, Center for Research and Drug Development (NPDM), Federal University of Ceara, Fortaleza, Ceara, Brazil; Post-Graduate Program in Medical Science, Federal University of Ceara, Fortaleza, Ceara, Brazil; Post-Graduate Program of Pathology, Federal University of Ceara, Fortaleza, Ceara, Fortaleza, Ceara, Brazil; Post-Graduate Program of Translational Medicine, Federal University of Ceara, Fortaleza, Ceara, Brazil.
Myelodysplastic Neoplasm (MDS) is a cancer associated with aging, often leading to acute myeloid leukemia (AML). One of its hallmarks is hypermethylation, particularly in genes responsible for DNA repair. This study aimed to evaluate the methylation and mutation status of DNA repair genes (single-strand - XPA, XPC, XPG, CSA, CSB and double-strand - ATM, BRCA1, BRCA2, LIG4, RAD51) in MDS across three patient cohorts (Cohort A-56, Cohort B-100, Cohort C-76), using methods like pyrosequencing, real-time PCR, immunohistochemistry, and mutation screening.
View Article and Find Full Text PDFJ Plast Reconstr Aesthet Surg
January 2025
Department of Plastic Surgery, Odense University Hospital, Denmark.
The incidence of keratinocyte carcinoma (KC) is rising globally, significantly burdening healthcare resources. Treatment options include medical treatment, non-invasive procedures, and surgery, each associated with their distinct benefits and risks. With advanced treatment, the procedures become increasingly invasive for the patients and expensive for the society.
View Article and Find Full Text PDFEur J Radiol
January 2025
Department of Radiology, West China Hospital Sichuan University Chengdu Sichuan China. Electronic address:
Purpose: To develop and validate an MRI-based model for predicting postoperative early (≤2 years) recurrence-free survival (RFS) in patients receiving upfront surgical resection (SR) for beyond Milan hepatocellular carcinoma (HCC) and to assess the model's performance in separate patients receiving neoadjuvant therapy for similar-stage tumors.
Method: This single-center retrospective study included consecutive patients with resectable BCLC A/B beyond Milan HCC undergoing upfront SR or neoadjuvant therapy. All images were independently evaluated by three blinded radiologists.
Background: Coronary heart disease (CHD) and depression frequently co-occur, significantly impacting patient outcomes. However, comprehensive health status assessment tools for this complex population are lacking. This study aimed to develop and validate an explainable machine learning model to evaluate overall health status in patients with comorbid CHD and depression.
View Article and Find Full Text PDFEur J Surg Oncol
December 2024
Department of Surgery, Tokyo Medical University, Japan.
Objective: Pulmonary pleomorphic carcinoma is a relatively rare and aggressive subtype of non-small cell lung cancer (NSCLC), with a poor prognosis and early recurrence, and is resistant to conventional therapies. This study investigated the efficacy of immune checkpoint inhibitors (ICIs) in improving the survival outcomes of patients with pulmonary pleomorphic carcinoma with postoperative recurrence.
Methods: We conducted a retrospective analysis of 71 patients with pulmonary pleomorphic carcinoma who underwent pulmonary resection at Tokyo Medical University Hospital between 2008 and 2022.
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