Familial Mediterranean Fever (FMF )

retrospective observe the efficacy and safety of different drugs used in familial Mediterranean fever (FMF) cases in real-world

Rheumatic diseases are chronic inflammatory conditions that can lead to long-term tissue damage and increased cardiovascular and metabolic risk. Advanced glycation end products (AGEs) are harmful molecules that accumulate in the body over time and are known to promote inflammation and oxidative stress. Increased AGE burden has been implicated in several chronic diseases; however, its role in rheumatic diseases has not been fully clarified. This observational, cross-sectional study aims to evaluate the accumulation of AGEs in patients with various rheumatic diseases compared with healthy individuals. AGE levels will be assessed non-invasively using skin autofluorescence measurements. By comparing AGE burden between patients and healthy controls, this study seeks to improve understanding of the potential role of AGEs in the pathophysiology of rheumatic diseases and to explore their usefulness as a non-invasive biomarker in clinical practice.

Familial Mediterranean Fever (FMF) is one of the most common autoinflammatory rheumatic diseases in childhood. Problems such as joint pain, muscle weakness, decreased aerobic capacity, and fatigue seen in children and adolescents with rheumatic disease may lead to low physical fitness levels. Limitation of physical performance is one of the possible consequences of chronic diseases that occur during childhood. At the same time, children with chronic illness face many challenges in participating in physical activity. Pediatric patients with rheumatic diseases tend to be physically inactive and, compared to their healthy peers, generally avoid participating in physical activity due to the limitations imposed by the disease. Often, the disease itself paves the way for decreased functional capacity and the development of deconditioning. Therefore, prescribing physical activity and exercise to pediatric populations with chronic illnesses is of great importance. This approach helps alleviate both the symptoms related to chronic diseases and the lifelong complications secondary to pharmacological treatments, and also prevents the development of new chronic conditions. Participation in adequate physical activity is one of the most important behaviors individuals can adopt to maintain their health and well-being. Globally, public health physical activity guidelines address the exercise needs of children and adolescents. The European Alliance of Associations for Rheumatology (EULAR) highlights in its physical activity and exercise guidelines for patients with rheumatic diseases that the physical activity recommendations made for the general population are also applicable to patients with rheumatic diseases. With this cohort study, it is aimed to examine physical activity (PA) in detail in adolescents diagnosed with FMF and to compare them with healthy peers. This study is one of the first in our country to provide comprehensive data on the PA levels of adolescents with FMF. The findings obtained will contribute to understanding PA levels and exercise perception, and guide the planning of exercise programs to be developed for these individuals. Moreover, the results of the study may also serve as a basis for future research in children and adolescents with various chronic diseases, especially those with FMF.

FMF is associated with many different clinical entities. The disease appears to be associated with many diseases and/or syndromes with common features of genetic predisposition, immune dysfunction and autoinflammation. Pericardial inflammation, cardiovascular conditions such as ischaemic heart disease, other rheumatic diseases such as ankylosing spondylitis (AS), vasculitis, especially Behçet's disease, malignancy and infertility are often associated with FMF. Early detection of these associations makes it possible to improve the management and prognosis of patients with FMF. The chronic nature of the disease, as in other chronic diseases, includes problems such as pain, fatigue, sleep problems, loss of function, anxiety, depression and social isolation. This complex structure is accompanied by a picture in which inflammatory processes are triggered. When the literature is examined, it is emphasised that chronic diseases with multifaceted symptoms require evaluation and methods that include all these biopsychosocial features. On the other hand, although it is stated that the common goal of non-pharmacological treatments is to contribute to biopsychosocial improvement in the patient, it is emphasised that evaluations with biopsychosocial content are insufficient. This situation causes the need for scales that provide an assessment from a holistic perspective in chronic diseases. Cognitive Exercise Therapy Approach (BETY) is an innovative exercise approach developed on the basis of biopsychosocial model on individuals with rheumatism. The parameters that constitute the innovation are detailed under four headings: function-oriented core stabilisation exercises, information management in pain, information management in mood, and information management in sexuality. This method has a unique scale that offers biopsychosocial assessment. The Cognitive Exercise Therapy Approach - Biopsychosocial Questionnaire (BETY-BQ) was created by receiving feedback from individuals with rheumatism who participated in BETY exercise training 3 days a week for many years, expressing the improvement characteristics they experienced by participating in exercise sessions. The BETY-BQ evaluates the individual biopsychosocially with six sub-headings: pain, functionality-fatigue, emotion-state, sociability, sexuality and sleep. The validity, reliability and sensitivity of the BETY-BQ have been demonstrated in many rheumatic diseases such as rheumatoid arthritis, fibromyalgia, psoriatic arthritis, systemic lupus erythematosus, ankylosing spondylitis, knee osteoarthritis, primary Sjögren's syndrome. Currently, it is clear that there is a need for scales that offer biopsychosocial assessment for individuals diagnosed with rheumatism, where biopsychosocial approaches are recommended in EULAR recommendations. BETY-BQ is included in the EULAR library as a biopsychosocial status measurement tool. This study will investigate the validity, reliability and responsiveness of the BETY-BQ, a biopsychosocial assessment tool, in individuals diagnosed with Familial Mediterranean Fever.

Our study will be randomized controlled. Familial Mediterranean Fever patients between the ages of 12-18 will be included in the study and will be divided into 2 groups. The first group will be applied a synchronous supervised online exercise program under the supervision of a physiotherapist, and the second group will be applied an asynchronous video-based exercise program. The exercise program will be carried out for 8 weeks, 2 days a week. There will be 3 sets, 8 repetitions in 1 set in the exercise program and will be progressed according to tolerance. In the exercise program, the synchronous group will perform the exercises with the supervision of a physiotherapist via the Zoom application, while the asynchronous video-based group will upload the exercises to the system asynchronously via a channel on YouTube that only patients can access. Feedback will be received from the asynchronous group by phone. Our exercise program will be organized with the progression of exercises such as squat, lunge, stepping, running in place and jumping. The primary outcome measures of the study are the evaluation of fatigue (VAS) and functional capacity (6-Minute Walking Test). Our secondary outcome measures are the evaluation of pain, balance, physical fitness and walking. For the assessment of fatigue: Visual Analog Scale (VAS), PedsQL Multidimensional Fatigue Scale, Fatigue Severity Scale; For the assessment of functional capacity: 6 Minute Walk Test, 30 sec Sit-to-Stand Test, 10-Step Climbing Test, Pacer aebonic fitness test, Half Squat Test; For the assessment of balance: One-Leg Stand Test, Functional Forward Reach Test, Kinvent (K-plate)-K Force measurement evaluation set, Digitsole Smart Insole System for the assessment of walking; For the assessment of physical fitness: FitnessGram test battery; For the assessment of pain: VAS will be used.

This project is a 2209-A TÜBİTAK project. It has been developed to identify the barriers to physical activity among patients diagnosed with Familial Mediterranean Fever (FMF). The project aims to determine the problems encountered by FMF patients when engaging in physical activity and the reasons behind these issues, using various assessment methods to identify the reasons for avoiding physical activity.

In pediatric rheumatic diseases, joint swelling, effusion, tenderness, and painful restriction of joint movement, particularly in weight-bearing joints, frequently alter walking function. These changes affect temporal and spatial parameters of gait, as well as kinematic and kinetic characteristics, leading to functional limitations. Comprehensive physical assessments in patients may not always predict changes in gait parameters. Therefore, incorporating objective methods related to gait and balance into physical evaluations is essential for functional insights and clinical decision-making, aiming to prevent adaptive mechanisms that could negatively affect gait function in the long term. In this context, smart insoles have emerged as a new tool for gait analysis, offering an alternative to high-cost, lab-based equipment. The Digitsole Pro® system can measure gait profile and variables in real-life conditions. A review of the literature reveals no studies utilizing smart insole-based gait assessments in pediatric rheumatic patients. The aim of our study is to investigate the gait profile and variables of children and adolescents with pediatric rheumatic disease using the next-generation Digitsole Pro® smart insole system, and to compare the results with those of healthy peers.

To investigate the relationship between the hematological indices and subclinical inflammation in FMF patients during their attack-free period, additionally this study aims to assess the potential of these indices as predictive markers for ongoing inflammation in these patients population at Assuit university hospital of pediatrics.