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Filter by:Familial Mediterranean Fever (FMF) is a chronic hereditary autoinflammatory disease caused by mutations in the MEditerranean FeVer (MEFV) gene which codes for pyrin. Dysfunction of this protein determines an inappropriate response to inflammatory stimuli. The clinical course of the disease is characterized by recurrent episodes of fever and inflammation of the serous membranes, which manifest with chest, abdominal and joint pain. Several studies suggest a possible association between acute FMF attacks and dietary triggers, including wheat. However, it is still unclear to what extent wheat is responsible for the reactivation of FMF and if, between one acute attack and another, patients with FMF experience other symptoms, both gastrointestinal and extraintestinal, characteristic of gluten/wheat sensitivity not linked to celiac disease or immunoglobulin E (IgE)-mediated wheat allergy (i.e. Non-Celiac Wheat Gluten/Sensitivity, NCGS/NCWS). Therefore, this study aims to evaluate the appearance of symptoms compatible with an acute attack of FMF following the ingestion of wheat or other foods, and the prevalence of self-perceived gluten/wheat sensitivity in patients with FMF.
Familial Mediterranean Fever is a chronic auto-inflammatory disease. In the context of chronic inflammation, it seems that, among others, it also affects bone density in children. Bone loss may be due to subclinical inflammation that persists even during periods of remission. In addition, inflammatory cytokines also play an important role (mainly during episodes) resulting in an increase in bone degradation and ultimately a reduction in bone mass. Cytokines mainly associated with bone degradation and osteoclast activity are: IL-1R, IL-2, IL-6, IL-8, TNFa. The purpose of this study is to determine the effect of FMF on bone density and to compare the results with a healthy population. In addition, the difference between the children with FMF will be studied according to the mutation they carry.
This study was planned to be carried out as a pretest-posttest control group design in experimental type and randomized groups in order to determine the effect of educating children aged 8-14 with a diagnosis of Familial Mediterranean Fever through a mobile game application and training booklet on their disease knowledge, disease self-efficacy, symptom management and quality of life. H0: Informing children with Familial Mediterranean Fever through mobile games and educational booklets has no effect on the child's knowledge of the disease, disease self-efficacy, symptom management and quality of life. Compared to children with Familial Mediterranean Fever who were informed by mobile games, and children with Familial Mediterranean Fever who were informed through the education booklet and were not informed at all; H1: Disease knowledge increases. H2: Disease self-efficacy increases. H3: The number of attacks, activity intolerance, number of symptoms and severity of pain decrease. H4: Quality of life increases.
Familial Mediterranean Fever (FMF) is the most common inherited autoinflammatory disease affecting 150,000 patients worldwide. Periodic febrile exacerbations, peritonitis, and pleuritis are characteristic disease features. Dysregulation of IL-1β secretion has an important role in the pathophysiology of the disease, and IL-1β also serves as a therapeutic target. Chronic inflammation has been associated with early atherosclerotic and cardiovascular disease in various rheumatic diseases. An increased risk for cardiovascular events associated with disease activity has been described in rheumatoid arthritis, psoriatic arthritis, and systemic lupus erythematosus. In addition, autonomic nervous system dysfunction may contribute to increased cardiovascular risk in patients with inflammatory disease. For example, decreased heart rate variability is an important feature of cardiac autonomic dysfunction and is an isolated risk factor for cardiovascular events. Autonomic dysfunction studies related to FMF have conflicting results. The aim of this study was to determine autonomic dysfunction symptoms and objective findings in patients with FMF; Demographic characteristics, disease characteristics, inflammatory burden, fatigue level, sleep quality, presence of fibromyalgia and their relationship with quality of life were evaluated and compared with healthy controls.
The primary purpose of this study is to assess the safety of the long-term treatment with RPH-104 at doses 80 mg or 160 mg once every 2 weeks in a population of patients with colchicine resistant or colchicine intolerant familial Mediterranean fever (FMF) who completed the core study, during which they received at least one dose of RPH-104. Long-term efficacy of RPH-104, the immunogenicity of the RPH-104, the pharmacokinetics of the RPH-104 and quality of life change in the population of patients receiving long-term treatment with RPH-104 will be assessed as well.
The primary purpose of this study is to assess the efficacy and safety profiles of investigational product RPH-104 (R-Pharm Overseas, Inc., USA) for treatment of Familial Mediterranean Fever (FMF) in adult patients resistant/intolerant to colchicine (crFMF). Pharmacokinetic and pharmacodynamic parameters of RPH-104 single or multiple doses in this patient population will be assessed as well.
Zoonosis including brucellosis and rickettsial infections are a major contributor to infectious morbidity in southern Israel. The Bedouins, a nomadic tribal population residing in the Negev area are notably exposed to domesticated animals including livestock, camels and companion animals, and their living conditions, especially with respect to poor sanitation in different Bedouin communities also expose them to rodents and disease vectors such as insects and arthropods. In this study, we aim to identify Bedouin patients arriving at the Soroka University Medical Center, a tertiary hospital un the Negev, with undifferentiated fever, suspected as a zoonosis. We intend to use molecular methods to better diagnose the infectious agent using whole blood and serum samples, and when available other tissues or body fluid, and use next generation sequencing technology to deeply examine bacterial features such as virulence factors, and host pathogen interactions.
Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is caused by mutations in the MEFV gene, which encodes variants of the Pyrine inflammasome. Inflammasomes are protein complexes of the innate immunity that produce pro-inflammatory cytokines (interleukin-1β). In vitro, our preliminary results demonstrated that the activation of the inflammatory pyrine (measured by the concentration of interleukin-1β) by kinase inhibitors is significantly increased in FMF patients compared to healthy subjects. Furthermore, a measurement of cell death gave significant results in differentiating the patients from the controls. The performance of this functional has been tested, fast and simple diagnostic test on common mutations and wish to assess its characteristics for MEFV mutations. The investigators hypothesize that this quick and simple functional test can serve as a diagnostic tool for FMF and can quantitatively discriminate against patients with different mutations (genotypes).
This study aimed to collect and analyze clinical specimens of patients with classic infectious diseases in the real world. To investigate the epidemiological distribution of classic infectious diseases (brucellosis, epidemic hemorrhagic fever, kala-azar) and treatment options suitable for China.
Familial Mediterranean fever (FMF) is an inherited disorder of unknown etiology, characterized by recurrent episodes of fever, peritonitis and/or pleuritis. Fever is the cardinal manifestation of FMF and is present in most attacks accompanied by abdominal pain. Another clinical manifestation in patients with FMF is exertional muscle pain, usually in the thigh, which appears even after minor exercise or physical activity in young patients with generally good health (other than FMF) and in good physical condition. Some patients also complain of ankle edema after relatively minor physical activity, which subsides after a night rest. Although these manifestations are quite common in FMF patients and form part of the minor criteria for the diagnosis, the etiopathogenesis has not been examined. The purpose of the suggested study is to evaluate and characterize the anatomical and biochemical changes in the muscles of the thigh and in the ankle triggered by physical activity in FMF patients complaining of exertional lower leg myalgias and edema after minor physical exercise.