Background: Given the strong genetic background of familial Mediterranean fever (FMF), the frequently reported co-existing diseases in children with FMF should also be investigated in other family members. Therefore, we aimed to examine the medical conditions of first-degree relatives (FDRs) of our pediatric patients with FMF in the present study.
Methods: Chronic diseases of FDRs of pediatric 449 FMF, 147 juvenile idiopathic arthritis (JIA) patients and 93 healthy controls (HC) were questioned during their routine clinical visits for 9 consecutive months.
Results: A total of 1975 FDRs of 449 FMF, 690 FDRs of 147 JIA patients, and 406 FDRs of 93 HC were included into the study. The most common medical conditions were non-atopic asthma (n=71, 3.6%), type 2 DM (n=14, 2%), and tonsillectomy history (n=12, 2.95%) in the FMF, JIA, and HC groups, respectively. Atopic diseases (FMF vs. JIA: p=0.013; FMF vs. HC: p=0.014), rheumatic diseases (FMF vs. JIA: p=0.030; FMF vs. HC: p=0.017), and surgical histories (FMF vs. JIA: p<0.01; FMF vs. HC: p=0.026), including adenoidectomy, tonsillectomy, and appendectomy, were significantly more common in the FMF group than in other groups.
Conclusions: Our novel findings may contribute to understanding the hereditary burden of co-existing diseases in children with FMF and encourage further studies involving genetic screenings.
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http://dx.doi.org/10.24953/turkjpediatr.2024.4589 | DOI Listing |
Commun Biol
December 2024
Guangzhou Institute of Cancer Research, the Affiliated Cancer Hospital, Guangzhou Medical University; State Key Laboratory of Respiratory Disease, Guangzhou, Guangdong, China.
Inevitable gefitinib resistance is the biggest bottleneck in current treatment and the mechanisms are not fully understood. Here, we observe that PFTK1 (also named CDK14) is significantly enhanced in NSCLC with gefitinib resistance. And the upregulation of PFTK1 is negatively associated with progression-free survival (PFS) in NSCLC patients who receive gefitinib treatment.
View Article and Find Full Text PDFArch Rheumatol
September 2024
Division of Pediatric Rheumatology, Ümraniye Training and Research Hospital, İstanbul, Türkiye.
Eur J Pediatr
October 2024
Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Türkiye.
Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide. In this retrospective cohort study, we aimed to assess the effects of various MEFV genotypes on the clinical characteristics of the patients, with a special focus on the joint involvement. In total, 782 patients with FMF were categorized into 3 groups according to the MEFV mutation; Group 1: Patients homozygous for M694V; Group 2: Patients carrying other pathogenic MEFV variants in exon 10 in homozygous or compound heterozygous states; and Group 3: FMF patients with other variants or without mutations.
View Article and Find Full Text PDFTurk J Pediatr
May 2024
Department of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Medical School, İstanbul, Türkiye.
Background: Given the strong genetic background of familial Mediterranean fever (FMF), the frequently reported co-existing diseases in children with FMF should also be investigated in other family members. Therefore, we aimed to examine the medical conditions of first-degree relatives (FDRs) of our pediatric patients with FMF in the present study.
Methods: Chronic diseases of FDRs of pediatric 449 FMF, 147 juvenile idiopathic arthritis (JIA) patients and 93 healthy controls (HC) were questioned during their routine clinical visits for 9 consecutive months.
J Clin Rheumatol
August 2023
Pediatric Radiology, Ankara University Faculty of Medicine, Ankara, Turkey.
Objective: The aims of this study were to describe disease associations of magnetic resonance imaging (MRI)-confirmed and clinically symptomatic sacroiliitis in pediatric patients with rheumatic diseases and to examine the relationship between patient characteristics and MRI findings of the sacroiliac joint (SIJ).
Methods: Demographic and clinical data were extracted from the electronic medical records of the patients with sacroiliitis followed in the last 5 years. Active inflammatory and structural damage lesions of the SIJ-MRI were examined by the modified Spondyloarthritis Research Consortium of Canada scoring system, and correlation analysis of these results with clinical characteristics was evaluated.
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