12,440 results on '"Familial Mediterranean fever"'
Search Results
2. Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders
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- 2024
3. Study of Colchicine Resistance in Familial Mediterranean Fever (COLCHI-RESIST)
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- 2024
4. Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean Fever (FMF)
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Prof.Avi Livneh, Principal Investigator, Head of Internal Medicine "F" , Director of national center of FMF, Israel
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- 2024
5. Heat Intolerance in the Group of FMF Patients
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Prof.Avi Livneh, Professor
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- 2024
6. Can Gluten/Wheat or Other Foods be Responsible for FMF Attacks
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Pasquale Mansueto, Associate Professor
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- 2024
7. Placebo-resistant gut bacteria: Akkermansia muciniphila spp. and Familial Mediterranean fever disease.
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Pepoyan, Elya, Marotta, Francesco, Manvelyan, Anahit, Galstyan, Artak, Stepanyan, Lena, Grigoryan, Hasmik, Grigoryan, Liana, Mikayelyan, Mikayel, Balayan, Marine, Harutyunyan, Natalya, Mirzabekyan, Susanna, Tsaturyan, Vardan, Pepoyan, Astghik, and Torok, Tamas
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Akkermansia muciniphila ,Blautia ,Enterobacteriaceae spp. ,Faecalibacterium ,familial Mediterranean fever ,male patients ,microbiome ,placebo ,Humans ,Male ,Akkermansia ,Bacteria ,Familial Mediterranean Fever ,Gastrointestinal Microbiome ,Probiotics ,Adolescent ,Young Adult ,Adult ,Middle Aged - Abstract
INTRODUCTION: Despite numerous investigations into the impact of drugs/probiotics on the gut microbiota composition in Familial Mediterranean Fever (FMF) patients, the question as to whether there exists a significant bacterial diversity(ies) independent of the placebo effect that can be reliably considered in clinical and nutritional trials remains unresolved. METHODS: This study represents the in augural analysis of the placebos influence on the gut microbiota of both healthy individuals and FMF afflicted men, utilizing previously collected data from PhyloChip™ DNA microarray experiments. A total of 15 healthy and 15 FMF male volunteers, aged 18 to 50, participated in this partially randomized placebo trial, which is accessible through the GEO Series accession number GSE111835. RESULTS AND DISCUSSION: Key findings from current investigations include i. the anticipated divergence in gut bacteria resistance to placebo between healthy and FMF individuals, ii. the minor impact of placebo on gut bacterial diversities in healthy individuals, with Enterobacteriaceae diversities identified as placebo-resistant among healthy gut bacteria, and iii. the comprehensive influence of placebo on all bacterial phyla in the gut microbiome of FMF patients, extending to nearly all bacterial genera, except for the resilience of gut Akkermansia muciniphila spp. to placebo in FMF patients. This study underscores the susceptibility of Faecalibacterium, Blautia, and Clostridium genera to placebo. Consequently, this investigation holds significance for the proper design of placebo-controlled trials and establishes a foundation for further exploration of the gut-brain axis. Furthermore, it contributes valuable insights to discussions regarding proposals for probiotic therapies, particularly focusing on Faecalibacterium spp., Blautia spp., and Clostridium spp.
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- 2024
8. Randomized Controlled Trial in Patients on Long-term Colchicine With Colchicine-resistant Familial Mediterranean Fever (FMF) to Evaluate the Efficacy of On-demand Anakinra Treatment for Painful Attacks in Patients Who Refuse Continuous Daily Therapy (KIN-ATTACK-FMF)
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- 2024
9. Physical Abilities of Teenagers With Familial Mediterranean Fever (Sport & FMF)
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Véronique Hentgen, Professor
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- 2024
10. Lanadelumab in FXII-associated Cold Autoinflammatory Syndrome (FACAS) (LANA-FXII)
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Shire International GmbH and Karoline Krause, Professor
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- 2024
11. Interleukin-21 and Interleukin-23 levels in familial Mediterranean Fever before and after treatment: the role of cytokines in disease pathogenesis.
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Hizal, Mutlu, Tufan, Abdurrahman, Mercan, Ridvan, Pasaoglu, Ozge Tugce, Pasaoglu, Hatice, Haznedaroglu, Seminur, Goker, Berna, and Ozturk, Mehmet Akif
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FAMILIAL Mediterranean fever , *INTERLEUKIN-21 , *T helper cells , *CYTOKINES , *CELL differentiation , *SERUM - Abstract
In a previous study, it has been shown that the population of Th17 lymphocytes was increased in patients with FMF. IL-21 and IL-23 play significant roles in the production and differentiation of Th17 cells. In this study, we aimed to evaluate serum levels of IL-21 and IL-23 in FMF patients both at diagnosis and after treatment, and to compare these levels with those of healthy controls. Twenty-seven newly diagnosed patients with FMF in attack-free periods and twenty-seven healthy volunteers enrolled in the study. The groups were comparable with respect to age and gender. IL-21 and IL-23 levels in serum samples from patients at the time of diagnosis, in remission after treatment, and from the control groups were analysed using the ELISA method. There was no significant difference between the cytokine levels of the patient group at the time of diagnosis and the cytokine levels of the control group (for IL-21, p: 0.28 and for IL-23, p: 0.56). Similarly, there was no significant difference between the patients' cytokine levels at the time of diagnosis and after treatment (for IL-21, p: 0.99 and for IL-23, p: 0.08). Interleukin levels at the time of diagnosis did not differ among patient groups based on the presence of clinical findings or the M694V genotype. Our results suggest that IL-21 and IL-23 do not play a role in the pathogenesis of the disease. However, while interpreting these findings, it should be considered that patients with active episodes were excluded and cytokine levels were not measured in tissue samples. [ABSTRACT FROM AUTHOR]
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- 2024
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12. Protracted febrile myalgia syndrome in children with familial Mediterranean fever – systematic review and a case report.
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Hospach, Toni, Blankenburg, Friederike, Heinkele, Anita, von Kalle, Thekla, Uziel, Yosef, Kallinich, Tillmann, and Rücklová, Kristina
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FAMILIAL Mediterranean fever , *SYMPTOMS , *LITERATURE reviews , *DELAYED diagnosis , *CHILD patients - Abstract
Introduction: Protracted febrile myalgia syndrome (PFMS) is a rare manifestation of familial Mediterranean fever (FMF), characterized by myalgia, fever and elevated inflammatory markers lasting several weeks. As the hallmark of FMF are short episodes of disease symptoms, the long duration of PFMS may lead to a delayed diagnosis and treatment. Objectives: 1. To perform a review of literature and rheumatology textbooks focused on clinical features and treatment of PFMS in children. 2. To present our own case. Methods: All articles in Pub Med generated using the keywords "protracted febrile myalgia" and information on PFMS in seven rheumatology textbooks were collected. The systematic review was supplemented with our own case presentation. Results: In total, 18 articles with 78 pediatric patients (including our own) were retrieved. More than half of the patients presented with PFMS as the first manifestation of FMF. All complained of myalgia, 65% of abdominal pain and 26% had a rash. Corticosteroids (CS) were effective in 77%. In all CS-refractory cases, anakinra was shown efficient. MRI was used in 5 patients and showed myositis in all of them. The scrutiny of seven rheumatology textbooks showed that PFMS presenting with myalgia was mentioned in six. Possible accompanying symptoms were described only once, the long duration of symptoms twice, the efficacy of corticosteroids three times and anakinra only once. The presented 6 year old patient manifested with fever, myalgia, abdominal pain and petechial rash lasting 6 weeks. She had undergone multiple diagnostic procedures before her parents mentioned a positive family history for FMF. The subsequent genetic testing confirmed a homozygosity for M694V pathogenic variant in the MEFV gene. Conclusion: The long duration of PFMS may be misleading to clinicians especially if PFMS occurs at manifestation of FMF. The fact that more than half of the reported patients experienced PFMS as the presenting symptom of FMF is one of the key findings of our study. Our case presentation demonstrates the importance of genetic testing early in suspected autoinflammatory diseases. Furthermore, MRI may be an important diagnostic tool showing myositis in PFMS. [ABSTRACT FROM AUTHOR]
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- 2024
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13. Colchicine as a potential HDAC inhibitor: comparative binding energies and prospects for cancer therapy repurposing.
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BURAN, Kerem
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DRUG repositioning , *FAMILIAL Mediterranean fever , *HISTONE deacetylase inhibitors , *THERAPEUTICS , *CLINICAL indications , *TUBULINS - Abstract
Drug repurposing, also known as drug repositioning or drug reprofiling, is gaining momentum as a strategy to identify novel therapeutic uses for existing drugs outside their original medical indications. This approach leverages the known safety profiles and mechanisms of action of approved medications to expedite the development of treatments for various diseases. Colchicine, an ancient herbal medicine with established anti-inflammatory properties and recognized efficacy in conditions like gout and Familial Mediterranean fever, has garnered interest in its potential applications beyond traditional uses. The discovery of colchicine's binding capacity to microtubules, essential for cellular structure and mitosis, has sparked exploration into its role in cancer therapy. Histone deacetylase inhibitors (HDACs) have also shown promise in cancer research by modulating gene expression through histone and non-histone protein acetylation. While colchicine is not conventionally classified as an HDAC inhibitor, studies suggest its potential impact on HDAC activity. This study aims to investigate the similarities in enzyme binding energies between colchicine and HDAC inhibitors, exploring the potential utility of colchicine as an HDAC inhibitor and introducing a new avenue for cancer treatment. By elucidating the potential therapeutic overlap between colchicine and HDAC inhibitors, this research seeks to advance the field of drug repurposing and provide novel insights into the treatment of cancer and other diseases. [ABSTRACT FROM AUTHOR]
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- 2024
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14. Perinatal outcomes and long-term infectious morbidity of offspring born to mothers with familial Mediterranean fever.
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Asher, Itay, Sheiner, Eyal, Willner, N. Tifferet, Zeller, Lior, and Pariente, Gali
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PROPORTIONAL hazards models , *LOW birth weight , *FAMILIAL Mediterranean fever , *MATERNAL age , *PREMATURE labor - Abstract
Purpose: To investigate perinatal outcomes and long-term infectious morbidity in children of mothers with familial Mediterranean fever (FMF). Methods: A population-based cohort study comparing perinatal outcomes and long-term infectious morbidity of offspring of mothers with and without FMF was conducted. All singleton deliveries between the years 1991–2021 in a tertiary medical center were included. The study groups were followed until 18 years of age for long-term infectious morbidity. A Kaplan–Meier survival curve was used to compare the cumulative incidence of long-term infectious morbidity, and generalized estimation equation (GEE) models as well as Cox proportional hazards models were constructed to control for confounders. Results: During the study period, 356,356 deliveries met the inclusion criteria. 411 of them were women with FMF. The mean follow-up period interval was 9.7 years (SD = 6.2) in both study groups. Using GEE models, preterm delivery, cesarean delivery, and low birth weight were independently associated with maternal FMF. The total infectious-related hospitalization rate was significantly higher in offspring born to mothers with FMF compared to the comparison group (Kaplan–Meier survival curve, log-rank p < 0.001). Using a Cox proportional hazards model, controlling for gestational age, maternal age, diabetes mellitus, cesarean delivery, and hypertensive disorders, being born to a mother with FMF was found to be an independent risk factor for long-term infection-related hospitalization of the offspring. Conclusion: Maternal FMF was found to be independently associated with long-term infection-related hospitalization of the offspring. This positive correlation may reflect an intra-uterine pro-inflammatory environment which may result in the offspring's long-term susceptibility to infection. [ABSTRACT FROM AUTHOR]
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- 2024
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15. The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.
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Ben‐Chetrit, Eldad and Touitou, Isabelle
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FAMILIAL Mediterranean fever , *GENETIC testing , *GENETIC variation , *AUTOINFLAMMATORY diseases , *GENETICS - Abstract
Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of fever, serositis (peritonitis, pleuritis, or synovitis), and erysipelas‐like erythema. Genetic variants in the MEFV gene are associated with this disease. Familial Mediterranean fever is considered an autosomal recessive disease. However, in Middle Eastern countries, a third of the patients expressing FMF manifestations, carry a single mutation only. Moreover, some cases of pure dominant inheritance linked to specific single MEFV variants have also been described. This complex inheritance of MEFV‐associated inflammatory diseases poses a serious challenge when interpreting the results of genetic testing in patients having recurrent fever syndromes. In addition, in certain situations, asymptomatic individuals may be incidentally found to carry MEFV variants. These cases pose the question of their exact diagnosis and whether they should be treated. Previous studies have focused on genetic results interpretations among symptomatic patients. In the current article, we would like to elaborate on the genetic interpretation in cases of symptomatic individuals suspected to have FMF and on asymptomatic individuals carrying MEFV variants. We aim to assist physicians unfamiliar with FMF to cope with genetic results interpretation when facing symptomatic and asymptomatic individuals carrying MEFV variants and suggest a management plan accordingly. [ABSTRACT FROM AUTHOR]
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- 2024
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16. C-reactive protein is more suitable than Serum Amyloid A to monitor crises and attack-free periods in Systemic Auto-Inflammatory Diseases.
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Parentelli, Anne-Sophie, Lopes, Anne-Aurélie, Fellahi, Soraya, Savey, Léa, Bastard, Jean-Philippe, and Georgin-Lavialle, Sophie
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BLOOD proteins , *FAMILIAL Mediterranean fever , *CALPROTECTIN , *BODY mass index , *C-reactive protein - Abstract
• CRP and SAA are good biomarkers to discriminate crises in FMF and USAID patients. • Serum calprotectin is not a suitable biomarker to discriminate crises in SAID. • Contrary to SAA, CRP diagnostic performances were not affected by the BMI. • CRP is a suitable, not expensive and easily available biomarker to monitor SAID. With their broad presentations and no global biomarker to discriminate crises and attack-free periods, Systemic Auto-Inflammatory Diseases (SAID) are difficult to manage. This study assessed Serum Amyloid A (SAA), C-reactive protein (CRP) and serum calprotectin as potential biomarkers to monitor patients with SAID. SAA (already studied in Familial Mediterranean Fever (FMF)), CRP and serum calprotectin were measured on SAID adult patients from Juvenile Inflammatory Rheumatism (JIR) cohort during their follow-up visits between 2020 and 2022. Crises and attack-free periods were clinically determined. 96 measures, mainly from FMF (43 %) and Unclassified SAID (USAID) (37 %) patients were included. Using ROC curves, a threshold with sensitivity and specificity of/over 75 % was determined for SAA (9 mg/L) and CRP (9 mg/L) but not for serum calprotectin, not investigated further. With this threshold, the results were similar in FMF and USAID patients' subgroups. SAA and CRP showed a positive correlation with crises and attack-free periods in SAID patients (r = 0.4796, p < 0.001 and r = 0.5525, p < 0.001, respectively) as in FMF and USAID patients, with no significant difference between both markers in diagnosis value and ROC curves Area Under Curve (AUC) (p = 0.32). Only the CRP results were not influenced by obesity. SAA and CRP can discriminate crisis and attack-free periods in our cohort of SAID patients mainly composed of FMF and USAID patients. However, only CRP can be used regardless of body mass index. It is the first report of common biomarkers for all SAID, including USAID patients, with CRP widely accessible in routine worldwide. [ABSTRACT FROM AUTHOR]
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- 2024
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17. The past 25 years in paediatric rheumatology: insights from monogenic diseases.
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Ozen, Seza and Aksentijevich, Ivona
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PEDIATRIC rheumatology , *FAMILIAL Mediterranean fever , *PROGNOSIS , *GENETIC variation , *GENETICS - Abstract
The past 25 years have seen major novel developments in the field of paediatric rheumatology. The concept of autoinflammation was introduced to this field, and medicine more broadly, with studies of familial Mediterranean fever, the most common autoinflammatory disease globally. New data on the positive evolutionary selection of familial Mediterranean fever-associated genetic variants might be pertinent to mild gain-of-function variants reported in other disease-associated genes. Genetic studies have unveiled the complexity of human heritability to inflammation and flourishing data from rare monogenic disorders have contributed to a better understanding of general disease mechanisms in paediatric rheumatic conditions. Beyond genomics, the application of other 'omics' technologies, including transcriptomics, proteomics and metabolomics, has generated an enormous dataset that can be applied to the development of new therapies and in the practice of precision medicine. Novel biomarkers for monitoring disease activity and progression have also emerged. A surge in the development of targeted biologic therapies has led to durable remission and improved prognosis for many diseases that in the past caused major complications. Last but not least, the COVID-19 pandemic has affected paediatric rheumatology practice and has sparked new investigations into the link between viral infections and unregulated inflammatory responses in children. Paediatric rheumatology has seen many notable developments in the past 25 years, including the introduction of the concept of autoinflammation and a greater understanding of the genetics and pathogenesis of inflammatory diseases. In this Perspective, Ozen and Aksentijevich discuss how these and other discoveries have transformed the field and herald improvements in patient care. [ABSTRACT FROM AUTHOR]
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- 2024
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18. IL‐1β/DNA complex elevation distinguishes autoinflammatory disorders from autoimmune and infectious diseases.
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Natsi, Anastasia‐Maria, Gavriilidis, Efstratios, Antoniadou, Christina, Papadimitriou, Evangelos, Papadopoulos, Vasileios, Tsironidou, Victoria, Palamidas, Dimitris Anastasios, Chatzis, Loukas, Sertaridou, Eleni, Tsilingiris, Dimitrios, Boumpas, Dimitrios T., Tzioufas, Athanasios G., Papagoras, Charalampos, Ritis, Konstantinos, and Skendros, Panagiotis
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STILL'S disease , *CELL-free DNA , *CRYOPYRIN-associated periodic syndromes , *FAMILIAL Mediterranean fever , *MANN Whitney U Test - Abstract
A recent study published in the Journal of Internal Medicine explores the use of IL-1β/DNA complex levels as a diagnostic tool for distinguishing autoinflammatory disorders from autoimmune and infectious diseases. The researchers developed a novel ELISA assay to measure the amount of IL-1β bound to extracellular DNA in plasma samples. They found that circulating IL-1β/DNA complex levels were significantly higher in patients with autoinflammatory disorders compared to those with autoimmune rheumatic diseases, acute infections, and healthy individuals. The assay also showed promise in evaluating treatment response in patients receiving IL-1 inhibitors. Further studies are needed to validate the diagnostic and prognostic utility of this assay in diverse inflammatory disorders. [Extracted from the article]
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- 2024
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19. Familial Mediterranean fever gene variations could trigger VPS16-associated early-onset dystonia and diabetes mellitus: clinical identification of a family with MEFV and VPS16 genetic variation association.
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Gemici, Yagmur Inalkac, Ekici, Cemal, Batum, Melike, Akbostanci, Cenk, Koc, Ahmet, and Mavioglu, Hatice
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FAMILIAL Mediterranean fever ,GENETIC variation ,DIABETES ,DYSTONIA ,TYPE 1 diabetes ,CLUSTER headache ,MOVEMENT disorders - Abstract
Objectives We describe the clinical pictures of an index case with dystonia and his family resulting from VPS16 and MEFV genetic variations based on previously published data and discuss the mechanisms that may have brought out the clinical findings. Methods A 17-year-old male had generalized dystonia that started at age 6 years, non-febrile abdominal pain attacks and was diagnosed with type 1 diabetes at age 14 years. Meanwhile, his 13-year-old sister had the same clinical presentation. His father was diabetic and his mother was asymptomatic. There was no consanguinity between the parents. Genetic variations were detected with whole exome sequencing. Results VPS16 c.1513C>T/p.Arg505* (likely pathogenic), MEFV c.2080A>G p.Met694val (pathogenic) and MEFV c.1772T>C p.Ile591Thr (unknown significance) heterozygous variants were detected in his siblings. The father had VPS16 c.1513C>T/p.Arg505* and MEFV c.2080A>G p Met694val variations and the mother had MEFV c.1772T>C p.Ile591Thr variations. Conclusions The occurrence of these diseases in siblings but their absence in the parents suggests the idea that the coexistence of two separate variations in the VPS16 and MEFV genes determines the phenotype. In addition, the increase in MEFV variation load in this family and the fact that DM occurs at an earlier age suggest that inflammation may cause an early diabetic clinical presentation. [ABSTRACT FROM AUTHOR]
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- 2024
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20. Impact of multiple MEFV variants of unknown significance on the diagnosis and clinical presentation of familial Mediterranean fever.
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Kishida, Dai, Yazaki, Masahide, Nakamura, Akinori, Tsuchiya-Suzuki, Ayako, Ichikawa, Takanori, Shimojima, Yasuhiro, and Sekijima, Yoshiki
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FAMILIAL Mediterranean fever ,SYMPTOMS ,GENETIC testing ,JUDGMENT (Psychology) ,COLCHICINE - Abstract
The detection of variants of unknown significance (VUS) in familial Mediterranean fever (FMF) is common; however, their diagnostic value remains elusive, and the interpretation of multiple VUS remains difficult. Therefore, we examined FMF diagnosis-associated factors 1-year post-genetic testing in patients with only VUS and assessed the impact of multiple VUS on diagnosis and clinical features. A 1-year follow-up was conducted on patients clinically suspected of having FMF without confirmatory diagnosis owing to the presence of only VUS. Clinical features were compared between patients with a single VUS and those with multiple VUS among patients diagnosed with FMF. Among 261 patients followed up, 202 were diagnosed with FMF based on clinical judgment. No specific clinical symptoms or variant patterns at genetic testing were associated with diagnosis at 1 year. Multiple VUS was significantly and independently associated with a lower response to colchicine than single VUS among patients diagnosed with FMF. However, clinical symptoms showed no correlation with the number of VUS. In conclusion, predicting FMF diagnosis 1-year post-genetic testing in patients with only VUS remains challenging. Moreover, the impact of multiple VUS on FMF may be limited owing to the lack of correlation with clinical features, except colchicine response. [ABSTRACT FROM AUTHOR]
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- 2024
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21. Autoinflammatory Diseases: A Review.
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An, Jason, Marwaha, Ashish, and Laxer, Ronald M.
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FAMILIAL Mediterranean fever ,SYSTEMIC lupus erythematosus ,CHILD patients ,AUTOINFLAMMATORY diseases ,RHEUMATISM - Abstract
Autoinflammatory disease (AID) is a vast spectrum of disorders characterized by recurrent attacks of sterile inflammation. Since the first cloning of the familial Mediterranean fever gene in 1997, there has been a rapid rate of discovery of new AIDs. As of 2022, there have been 485 inborn errors of immunity documented by the International Union of Immunological Societies, for which many display aspects of autoinflammation. The pathophysiology of AIDs is complex. Although many are caused by rare mutations in genes that govern innate immunity, others are polygenic, where disease expression is thought to be triggered by environmental factors in genetically predisposed hosts. AIDs range in prevalence from common entities like gout to ultrarare monogenic diseases. Whereas AIDs were initially studied in pediatric populations, it is now apparent that they can present in adulthood and even in the elderly. AIDs can be clinically challenging given their rarity, as well as the heterogeneity in presentation and underlying etiology. Although the care of AIDs can span medical disciplines, the rheumatologist often plays a central role given the inflammatory nature of these illnesses. In this review, we explore the current understanding of the pathophysiology of these complex conditions and propose a classification system for AIDs. We place an emphasis on AIDs that present to the adult rheumatologist and discuss important AIDs that can mimic more classic rheumatic diseases such as systemic lupus erythematosus and inflammatory arthritis. Finally, we offer an approach to the clinical assessment, diagnosis, and management of AIDs. [ABSTRACT FROM AUTHOR]
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- 2024
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22. Familial Mediterranean fever and MEFV gene variants in hidradenitis suppurativa: A systematic review.
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Aw, Katherine, Chan, Hillary A., Sibbald, Cathryn, Piguet, Vincent, and Croitoru, David
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PYODERMA gangrenosum , *FAMILIAL Mediterranean fever , *AMYLOIDOSIS , *WOMEN'S hospitals , *NLRP3 protein , *HIDRADENITIS suppurativa - Abstract
This systematic review explores the potential connection between Familial Mediterranean fever (FMF) and hidradenitis suppurativa (HS), two autoinflammatory disorders. The study reveals that mutations in the MEFV gene, associated with FMF, were also found in HS patients. The prevalence of FMF in HS patients ranged from 0.7% to 4.2%, with a higher risk compared to the general population. HS patients with FMF or MEFV mutations exhibited specific clinical characteristics and some experienced positive effects from IL-1β inhibitors. However, the study's small sample size and observational nature limit its findings, emphasizing the need for further research in this area. [Extracted from the article]
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- 2024
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23. Reliability of a generative artificial intelligence tool for pediatric familial Mediterranean fever: insights from a multicentre expert survey.
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La Bella, Saverio, Attanasi, Marina, Porreca, Annamaria, Di Ludovico, Armando, Maggio, Maria Cristina, Gallizzi, Romina, La Torre, Francesco, Rigante, Donato, Soscia, Francesca, Ardenti Morini, Francesca, Insalaco, Antonella, Natale, Marco Francesco, Chiarelli, Francesco, Simonini, Gabriele, De Benedetti, Fabrizio, Gattorno, Marco, and Breda, Luciana
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GENERATIVE artificial intelligence , *ARTIFICIAL intelligence , *FAMILIAL Mediterranean fever , *MEDIAN (Mathematics) , *PEDIATRIC rheumatology - Abstract
Background: Artificial intelligence (AI) has become a popular tool for clinical and research use in the medical field. The aim of this study was to evaluate the accuracy and reliability of a generative AI tool on pediatric familial Mediterranean fever (FMF). Methods: Fifteen questions repeated thrice on pediatric FMF were prompted to the popular generative AI tool Microsoft Copilot with Chat-GPT 4.0. Nine pediatric rheumatology experts rated response accuracy with a blinded mechanism using a Likert-like scale with values from 1 to 5. Results: Median values for overall responses at the initial assessment ranged from 2.00 to 5.00. During the second assessment, median values spanned from 2.00 to 4.00, while for the third assessment, they ranged from 3.00 to 4.00. Intra-rater variability showed poor to moderate agreement (intraclass correlation coefficient range: -0.151 to 0.534). A diminishing level of agreement among experts over time was documented, as highlighted by Krippendorff's alpha coefficient values, ranging from 0.136 (at the first response) to 0.132 (at the second response) to 0.089 (at the third response). Lastly, experts displayed varying levels of trust in AI pre- and post-survey. Conclusions: AI has promising implications in pediatric rheumatology, including early diagnosis and management optimization, but challenges persist due to uncertain information reliability and the lack of expert validation. Our survey revealed considerable inaccuracies and incompleteness in AI-generated responses regarding FMF, with poor intra- and extra-rater reliability. Human validation remains crucial in managing AI-generated medical information. [ABSTRACT FROM AUTHOR]
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- 2024
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24. Characteristics of arthritis in patients with familial Mediterranean fever.
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Yenigun, Selcan, Ayla, Ali Yagiz, Yuzbasioglu, Mebrure B., Baspinar, Sura N., Ergun, Sercan, Karabicek, Ali, Belli, Cagri, Demirkol, Fatma, Ozdogan, Huri, and Ugurlu, Serdal
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AUTOINFLAMMATORY diseases , *FAMILIAL Mediterranean fever , *GENETIC mutation , *SACROILIITIS , *PREVENTIVE medicine - Abstract
Background Aims Methods Results Conclusion Many of the familial Mediterranean fever (FMF) patients present with arthritis during attacks, which may vary in its characteristics.In this study, we aimed to describe and characterise arthritis in FMF patients.We used our hospital's record system to retrospectively identify FMF patients with arthritis who presented to our clinic between 2005 and 2020. The prevalence, laboratory results of attack, remission periods, genetic mutations, demographic data, characteristics of attacks, characteristics of arthritis, comorbidities, treatments and treatment responses were recorded.Nine hundred fifty‐four patients from a cohort of 2350 FMF patients had arthritis (40%). The male/female ratio was 0.49 in patients with arthritis. The frequency of at least one exon 10 mutation was high. The age of onset of symptoms was earlier for patients with arthritis. Monoarticular pattern was more frequent compared to oligo‐ and polyarticular patterns. Colchicine resistance was higher; the required colchicine dose for disease control and the frequency of use of biological agents were higher compared to general FMF population.Since M694V mutation is common and the colchicine dose required for disease control is high, we can conclude that the disease activity is high in FMF patients with arthritis. The frequency of sacroiliitis and spondyloarthropathy is significantly increased, especially in individuals with M694V mutation, suggesting that there may be a common pathway in their pathogenesis. FMF should be included in the differential diagnosis in patients presenting with arthritis in FMF endemic regions. [ABSTRACT FROM AUTHOR]
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- 2024
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25. Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis.
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Muhsinoglu, Orkun, Akalin, Ibrahim, Karadag, Remzi, Yilmaz, Sarenur, Bayramlar, Huseyin, and Nicholson, James D.
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FAMILIAL Mediterranean fever , *TURKS , *GENETIC variation , *EYE inflammation , *PYRIN (Protein) - Abstract
Purpose: The MEFV gene encodes pyrin, a protein linked to increased severity of symptoms in Familial Mediterranean Fever (FMF). We consider that inflammation due to MEFV variants would increase eye inflammation and damage aqueous humor regulation. The present study is the first analysis investigating a MEFV (E148Q) variant as a marker protecting from glaucoma. Methods: In this prospective clinical analyze, we performed detailed gene sequencing focusing on 22 specific regions of the pyrin (MEFV) gene. The study involved two distinct groups: individuals diagnosed with glaucoma (n = 200) and control subjects without glaucoma (n = 100). Both groups were carefully selected to exclude individuals with symptoms or a previous diagnosis of Familial Mediterranean Fever (FMF). The diagnosis of glaucoma for each participant was rigorously established through comprehensive direct ophthalmic examinations. Results: A significant odds ratio for protection against glaucoma was found in carriers of the subclinical E148Q allele (OR:2.22; 95%CI: 1.098–4.485). No significant differences were found for other variants. One mutant E148Q-allele could decrease the probability of glaucoma development by approximately 68,9%. We observed no differences in the genotype frequency between glaucoma and healthy for the other MEFV gene variants. Conclusion: The pyrin variant of the MEFV gene resulting in a subclinical phenotype appears to reduce the incidence of glaucoma, and heterozygous pyrin (MEFV) E148Q allele carriers confer protection against glaucoma. It is important to consider the limitations arising from the relatively small number of studies conducted on this topic. [ABSTRACT FROM AUTHOR]
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- 2024
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26. Altered expression of miR-17 and miR-148b in pediatric familial mediterranean fever patients.
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Sokkar, Mona F., Eldeen, Ghada Nour, Lotfy, Randa S., Kobesiy, Maha M., El-Bassyouni, Hala T., and Zarouk, Waheba A.
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GENE expression , *FAMILIAL Mediterranean fever , *MOLECULAR diagnosis , *CASPASES , *PHENOTYPIC plasticity - Abstract
Familial Mediterranean fever (FMF) is a recessively inherited autoinflammatory disorder with wide phenotypic variation that has been observed among individuals who have the same genotype. Modifying genes, epigenetic factors, or environmental factors might all have an impact on genotype–phenotype correlation in FMF. The current research aims to determine the expression levels of microRNAs (miR-148b and miR-17) in Egyptian FMF participants. We also aimed to investigate Caspase -1 gene expression to make a correlation with disease severity. The study comprised 25 clinically diagnosed FMF cases and 25 healthy subjects matched for age and sex. The molecular diagnosis of FMF cases was assessed using real-time SNP genotyping assay. MiR-148b and miR-17 expression were profiled using TaqMan assay technology. The expression level of Caspase -1 gene was also verified using qRT-PCR. MiR-17 in the studied cases was significantly upregulated compared to healthy individuals (P = 0.006), whereas miR-148b was significantly downregulated in the examined patients (P = 0.030). Moreover, statistically significant upregulation of Caspase-1 expression was also elucidated in relation to normal subjects (P = 0.033). The results obtained indicated that miR-17 and miR-148b might be potential regulatory biomarkers in FMF cases. We further hypothesized that the upregulation of Caspase-1 could hint at its significance as a future therapeutic target to alleviate the inflammatory process in these patients. Key Points • The role of miRNAs in FMF and various mechanisms involved in FMF pathogenesis has received increasing attention. • Studying the expression profiles of miR-17 and miR-148b in FMF patients revealed their potential role as regulatory biomarkers in these patients. • Significant upregulation of Caspase-1 expression in FMF cases could hint at its significance as a future therapeutic target. • Future studies on larger cohorts are warranted to clarify and better understand the role of miRNAs in the pathogenesis and severity of FMF. [ABSTRACT FROM AUTHOR]
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- 2024
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27. Increased risk of osteoporosis and femoral neck fractures in patients with familial Mediterranean fever—a large retrospective cohort study.
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Patt, Yonatan Shneor, Ben-Shabat, Niv, Fisher, Lior, Sharif, Kassem, Arow, Mohamad, Lassman, Simon, Watad, Abdulla, Skuja, Vita, Shtewe, Anan H, McGonagle, Dennis, and Amital, Howard
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OSTEOPOROSIS prevention , *RISK assessment , *AUTOINFLAMMATORY diseases , *RETROSPECTIVE studies , *MULTIVARIATE analysis , *DESCRIPTIVE statistics , *LONGITUDINAL method , *FEMORAL neck fractures , *MEDICAL records , *ACQUISITION of data , *STATISTICS , *OSTEOPOROSIS , *COMPARATIVE studies , *CONFIDENCE intervals , *PROPORTIONAL hazards models , *REGRESSION analysis , *DISEASE risk factors - Abstract
Objectives The direct impact of inflammatory conditions and their therapy with corticosteroids contribute to an increased risk of osteoporosis with associated fractures. Familial Mediterranean fever (FMF) is an autoinflammatory disorder not commonly treated with corticosteroids. Evidence regarding FMF association with osteoporosis and femur fractures is anecdotal. We aimed to evaluate the incidence and risk of osteoporosis and femoral neck fracture in FMF patients compared with the general population. Methods A retrospective cohort study using the electronic database of Clalit Health Services of all FMF patients first diagnosed between 2000 and 2016 and controls was conducted including age- and sex-matched controls in a 1:1 ratio. Follow-up continued until the first diagnosis of osteoporosis or fracture. Risk for these conditions was compared using univariate and multivariate Cox regression models. Results A total of 9769 FMF patients were followed for a median period of 12.5 years. Of these, 304 FMF patients were diagnosed with osteoporosis compared with 191 controls, resulting in an incidence rate (per 10 000 persons-years) of 28.8 and 17.8, respectively, and a crude hazard ratio of 1.62 (95% CI 1.35, 1.93; P < 0.001). Patients were diagnosed with osteoporosis at a considerably younger age than controls [60.1 (s. d. 12.4) vs 62.5 (s. d. 11.0) years; P = 0.028]. A total of 56 FMF patients were diagnosed with femoral neck fracture compared with 35 controls, resulting in an incidence rate of 5.3 and 3.3, respectively, and a crude HR of 1.60 (95% CI 1.05, 2.44; P < 0.05). Conclusion FMF patients are at increased risk for osteoporosis and consequently femur fracture. Our findings emphasize the importance of considering bone health in the management of FMF patients. [ABSTRACT FROM AUTHOR]
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- 2024
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28. How do gene mutation diversity and disease severity scoring affect physical capacity and quality of life in children/adolescents with Familial Mediterranean Fever?
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Kabul, Elif Gur, Bali, Merve, Calik, Bilge Basakci, Tekin, Zahide Ekici, Yener, Gulcin Otar, and Yuksel, Selcuk
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FAMILIAL Mediterranean fever , *GENETIC mutation , *QUALITY of life , *TEENAGERS , *MOTOR ability - Abstract
The aim of this study is to examine how gene mutation diversity and disease severity affect physical capacity and quality of life in children/adolescents with Familial Mediterranean Fever (FMF). Eighty children/adolescents (42 female, 38 male) diagnosed with FMF according to Tell-Hashomer diagnostic criteria were included in this study. Disease severity score (PRAS), running speed and agility and strength subtests of Bruininks-Oseretsky Test of Motor Proficiency Second Edition Short Form (BOT-2 SF), Physical Activity Questionnaire, Pediatric Quality of Life Inventory 3.0 Arthritis Module (PedsQL) was used for evaluation. Participants were divided into 2 groups as M694V and other mutations according to MEFV gene mutation and were divided into 3 groups as mild, moderate and severe according to PRAS. When the data were compared between groups; in terms of gene mutation, a significant difference was observed in treatment subtest of PedsQL-parent form in favor of the M694V gene mutation group (p < 0.05). In terms of PRAS, significant difference was seen in the pain, treatment subtests and total score of the PedsQL-child form, and in the pain, treatment, worry subtests and total score of the PedsQL-parent form in favor of the mild group (p < 0.05). MEFV gene mutations in children and adolescents with FMF did not differ on physical capacity and quality of life. PRAS was not effective on physical parameters, but quality of life decreased as the severity score increased. Encouraging children/adolescents with FMF to participate in physical activity and to support them psychosocially can be important to improve their quality of life. [ABSTRACT FROM AUTHOR]
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- 2024
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29. Assessing dual resistance to stripe rust and powdery mildew in wheat germplasm through molecular and field studies across the north-western Himalayas.
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Verma, Shubham, Chaudhary, Harinder K., Badiyal, Anila, Singh, Kritika, Dhillon, Kulveer Singh, Pathania, Akshay, and Sharma, Mukul
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GENOTYPE-environment interaction , *STRIPE rust , *MEDICAL screening , *FAMILIAL Mediterranean fever , *WHEAT rusts - Abstract
Wheat production in cooler regions like the north-western Himalayas, is significantly impeded by devastating diseases, namely stripe rust (SR) and powdery mildew (PM). Genetic resistance against SR and PM loses effectiveness over time which underscores the importance of periodic disease screening. This study aims to assess resistance to SR and PM in 81 wheat genotypes across multiple locations over three years (2019–20, 2021–22 and 2022–23); and detect candidate genes (Yr5, Yr10 and Pm24) for resistance using respective molecular markers viz., SSR/STS primers (STS7/8, Xp3000 and Xgwm337). The resistance towards SR and PM under natural epiphytotic conditions was displayed by eight and twelve genotypes respectively, across all locations. Notably, four genotypes (DH 202, HPW 368, HPW 373 and DH 114) were found resistant to both diseases. The phenotypic disease reaction for SR and PM was further validated through molecular markers. Genotypes DH 202, DH208, DH 217, CIMMYT Entry no. 23 and VL 829 emerged as high yielding disease resistant genotypes. Agrometeorological parameters specifically, precipitation and relative humidity exhibited significant positive correlations with disease incidence, leading to reduced grain yields. Genotype and genotype by environment interaction (GGE) biplot identified stable genotypes with less disease incidence over locations. Additionally, Kukumseri may serve as the optimal test site for screening wheat germplasm against SR, while Palampur and Kukumseri could be ideal for PM screening. Genotypes exhibiting combined disease resistance to both SR and PM, alongwith superior agronomic traits, hold promise for immediate deployment as wheat varieties or as potential donors for breeding resistant cultivars. [ABSTRACT FROM AUTHOR]
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- 2024
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30. Metabolic syndrome among Egyptian children with Familial Mediterranean Fever: a case–control study.
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Atef, Shimaa, Marzouk, Huda, El-khity, Mariam Mahmoud, and Abu Shady, Hend Mohamed
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FAMILIAL Mediterranean fever , *METABOLIC syndrome , *INSULIN resistance , *CHILDREN'S hospitals , *EGYPTIANS - Abstract
Background: Familial Mediterranean fever (FMF) is the most prevalent inherited autoinflammatory disease globally. Metabolic syndrome (MetS) is a cluster of interrelated risk factors; insulin resistance, obesity, dyslipidemia, and hypertension are the main constituents of MetS. Aim: This study aimed to investigate components of metabolic syndrome among Egyptian children with FMF during the attack-free period. Patients and methods: This is a case–control study that was conducted in the Pediatric Rheumatology Outpatient Clinic and Pediatric Endocrinology Clinic, Children's Hospital, Faculty of Medicine, Cairo University. It was conducted on 40 patients with FMF. The patients included were of both sexes and aged 10 years or older, during the FMF attack-free period; they were compared to 40 apparently healthy age- and sex-matched children as controls. All subjects in this study were subjected to detailed history taking, anthropometric measurements, general and systemic examinations. Laboratory evaluation (at the time of the study) was done at time of study, in the form of CBC with differential, BUN, creatinine, ESR, serum amyloid A, urine analysis, serum insulin, fasting blood glucose, and lipid profile. FMF gene mutations were collected from patients' files. Results: The mean ± SD age of FMF patients was 12.65 ± 1.82 (10–17) years, while the mean ± SD age of the control group was 12.6 ± 1.82 (10–16) years. Among FMF patients, 50% were males, and 50% were females (F:M = 1:1), while in the control group, 47.5% were females, and 52.5% were males. All FMF patients were during the attack-free period. There was a statistically significant difference between both groups regarding insulin resistance, being more frequent among the FMF patients' group, with a p-value of 0.025. Conclusion: None of our FMF patients met the criteria for the definition of metabolic syndrome, but there was a significant difference between cases and control regarding insulin resistance with higher frequency among FMF patients, probably due to the ongoing subclinical inflammation. This indicates that children with FMF may be at a higher risk of getting metabolic syndrome later on in life. [ABSTRACT FROM AUTHOR]
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- 2024
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31. Solving a diagnostic dilemma in a patient with periodic fever—When the pieces of the puzzle finally fit.
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Shukla, Vanita, Sarabjit Singh, Virendra R. S., Ranghell, Cara, Ramgoolam, Celine, Solomon, Nicole S., Ramcharitar‐Maharaj, Vidya, Persad, Christophe, and Davis‐King, Keisha
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FAMILIAL Mediterranean fever , *PANEL analysis , *GENETIC mutation , *SYMPTOMS , *FEVER - Abstract
Key Clinical Message: The lack of pediatric subspecialists locally prior to 5 years ago, meant that some of our patients with rare, relapsing conditions were left behind. Familial Mediterranean fever can be diagnosed clinically and supported via genetic panel studies. Although neurological symptoms can be non‐specific, this system symptomatology may lead patients and carers to seek medical attention. When neurological symptoms progress, seemingly refractory to first‐line treatment, or suggestive of colchicine resistance, CNS demyelination should be considered by the neurologist. Familial Mediterranean fever (FMF) is an inherited disorder with episodic fevers accompanied by pain in the abdomen, joints, or chest. It is a clinical entity that can be confirmed with a specific genetic mutation. Neurological symptoms have not been a focal point in clinical case descriptions. We aim to present the long road to diagnosing our patient, where the diagnostic clues centered around her neurological symptoms. [ABSTRACT FROM AUTHOR]
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- 2024
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32. Role of serum calprotectin in identifying familial Mediterranean fever attacks.
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Polat, Merve Gokcen, Omma, Ahmet, Gokcen, Neslihan, Kilinckaya, Muhammed Fevzi, and Ozkan Karaahmetoglu, Selma
- Abstract
Background/Aim: The aim of the study was to evaluate serum calprotectin (CLP) levels in familial Mediterranean fever (FMF) patients and to investigate the utility of CLP in distinguishing patients with attack from patients without attack. Material and method: FMF patients, rheumatoid arthritis (RA) patients, and healthy controls were included. Serum calprotectin levels were quantified utilizing the enzyme-linked immunosorbent assay (ELISA) method. Receiver operating characteristic (ROC) curve analysis was used to identify the cut-off value of serum CLP level to differentiate FMF patients with attack from those without. Logistic regression analysis was performed to identify predictors. Results: Significant differences were observed among the three groups concerning white blood cell (WBC), neutrophil, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and serum CLP levels (p = 0.003, p = 0.004, p < 0.001, p < 0.001, and p = 0.002, respectively). Higher ESR, CRP, and serum CLP levels were observed in FMF patients with attacks than those without (all, p < 0.001). Serum CLP was significantly higher in RA patients than in FMF patients in remission (p < 0.001). ROC analysis identified a threshold CLP concentration in FMF with an attack to be 47.1 pg/mL (83.3% sensitivity, 60.6% specificity, AUC = 0.74, 95% CI = 0.63–0.85, p < 0.001). In univariate logistic regression analysis, CLP (β = 1.045, 95% CI = 1.017–1.073, p = 0.001) was predictive of FMF patients experiencing an attack. Conclusion: Serum CLP proves to be as productive as ESR in illustrating inflammation and demonstrating the existence of attacks in FMF patients. [ABSTRACT FROM AUTHOR]
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- 2024
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33. Dynamics of an almost periodic epidemic model with non-local infections and latency in a patchy environment.
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Wang, Bin-Guo and Zhang, Jiangqian
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BASIC reproduction number ,EPIDEMICS ,COMMUNICABLE diseases ,INFECTIOUS disease transmission ,FAMILIAL Mediterranean fever - Abstract
Based on the assumptions that an infectious disease in a population has a fixed latent period and the latent individuals of population may disperse, combined with seasonal factors, an almost periodic $ SIR $ model with non-local infections and latency in a patchy environment is investigated. Draw support from the idea of the next generation operator, the definition of the basic reproduction number $ R_0 $ is given. Furthermore, the global dynamical theory of the model is studied using the basic regeneration number $ R_0 $ as a threshold parameter. It is shown that the disease will die out in the sense that the disease-free almost periodic solution of the model is globally attractive if $ R_0 <1 $, while the disease is uniformly persistent when $ R_0>1 $. Finally, this paper numerically simulates the model in a two patch environment, and verifies the propagation mechanism of the almost periodic infectious disease model. Moreover, Some numerical simulations indicate that population distribution between patches has a significant impact on the spread of diseases and show that the periodic epidemic models may overestimate or underestimate the disease risk comparing with the almost periodic model. [ABSTRACT FROM AUTHOR]
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- 2024
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34. The increased chromosomal DNA damage in patients with Familial Mediterranean Fever.
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Kiraz, Aslihan, Eciroglu, Hamiyet, Altin-Celik, Pınar, and Donmez-Altuntas, Hamiyet
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FAMILIAL Mediterranean fever , *DNA damage , *AUTOINFLAMMATORY diseases , *GENETIC disorders , *NUCLEOLUS - Abstract
Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disease. In this study, we aimed to assess chromosomal DNA damage and cell proliferation by using cytokinesis-block micronucleus cytome (CBMN-cyt) assay in the peripheral blood lymphocytes of untreated FMF patients carrying
M694V andR202Q mutations, which are the most commonMEFV gene mutations in Turkish society. The study included 20 untreated FMF patients withM694V andR202Q mutations and 20 healthy individuals of similar age and sex as the control group. Micronucleus (MN), nucleoplasmic bridges (NPBs), and nuclear buds (NBUDs) were scored in the obtained bi-nucleated (BN) cells. Additionally, the nuclear division index (NDI) was calculated using the scores of mononuclear, binuclear, and multinuclear cells. We found that MN and NPBs frequencies in FMF patients were significantly higher than in controls, and number of metaphases was significantly lower (respectively, p < 0.05, p < 0.01, and p < 0.01). However, there was no significant difference in NBUDs frequencies and NDI values between FMF patients and controls (p > 0.05). Our study is the first to evaluate FMF patients’ lymphocytes using the CBMN-cyt assay, as no previous research has been found in this respect. Increased MN and NPB frequencies may be useful as biomarkers for chromosomal DNA damage, and may indicate a potential for elevated cancer risk in untreated FMF patients. [ABSTRACT FROM AUTHOR]- Published
- 2024
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35. Sacroiliitis in familial Mediterranean fever: A rare joint involvement of the disease.
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Özçelik, Emine, Çelikel, Elif, Tekin, Zahide Ekici, Güngörer, Vildan, Karagöl, Cüneyt, Kaplan, Melike Mehveş, Öner, Nimet, Polat, Merve Cansu, Öztürk, Didem, Ekici, Mehveş Işıklar, Es, Yasemin Uğur, and Acar, Banu Çelikel
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FAMILIAL Mediterranean fever , *SACROILIITIS , *JOINT diseases , *CHILD patients , *LUMBAR pain - Abstract
Aim Methods Results Conclusions Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease characterised by recurrent episodes of fever and polyserositis. Sacroiliac joint involvement is rare in FMF patients. The purpose of this study was to evaluate the demographic, clinical, laboratory and imaging findings of patients with FMF who developed sacroiliitis.The files of paediatric patients aged 0–18 years who were followed up with a diagnosis of FMF were retrospectively reviewed. FMF patients with evidence of sacroiliitis on magnetic resonance imaging (MRI) were included in the study.Among 1062 FMF patients, 22 (12 males; median age 8.5) (2.1%) of them were found to have sacroiliitis. FMF was diagnosed before sacroiliitis in nine (40.9%) patients and after in 13 (59.1%) patients. The most common symptom in patients with sacroiliitis was low back pain (n = 21, 95.5%). In MEFV gene analysis, M694V was found in 16 (72.7%) patients and was the most common mutation. MRI showed evidence of sacroiliitis in all patients. All patients were using colchicine. Patients with FMF‐associated sacroiliitis, remission was achieved with non‐steroidal anti‐inflammatory drugs in 12 (54.5%), conventional disease‐modifying antirheumatic drugs in six (27.3%) and tumour necrosis factor inhibitor treatment in four (31.8%). Four (31.8%) patients experienced sacroiliitis when colchicine incompatible and four (31.8%) patients experienced sacroiliitis while using biologic agents for colchicine‐resistant FMF.FMF‐associated sacroiliitis should be considered especially in patients with M694V mutation if they have symptoms such as low back pain. Colchicine‐resistant FMF patients should be evaluated for sacroiliitis symptoms at each visit. [ABSTRACT FROM AUTHOR]
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- 2024
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36. Evaluation of serum prolidase level in children with Familial Mediterranean Fever.
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Eyada, Iman Khaled, Abdelfattah, Walaa, Naguib, Ahmed Mohamed, and Shady, Hend Mohamed Abu
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CREATININE ,DATA analysis ,ENZYME-linked immunosorbent assay ,KRUSKAL-Wallis Test ,AUTOINFLAMMATORY diseases ,ACUTE phase proteins ,SEVERITY of illness index ,CHILDREN'S hospitals ,COLCHICINE ,DESCRIPTIVE statistics ,MANN Whitney U Test ,CHI-squared test ,AGE factors in disease ,PROTEOLYTIC enzymes ,URINALYSIS ,STATISTICS ,INFLAMMATION ,ALBUMINS ,DATA analysis software ,GENETIC mutation ,BIOMARKERS ,CHILDREN - Abstract
Background: FMF (Familial Mediterranean Fever) is the most prevalent autoinflammatory disease. It arises due to mutations in the pyrin-encoding MEFV gene. Prolidase, an enzyme culpable of splitting the bonds of proline-containing dipeptides, is essential for matrix remodeling, collagen turnover, and cell proliferation. It has a crucial role in inflammation. Aim: To compare serum levels of prolidase between FMF children during the attack-free periods and healthy children and to correlate it with different FMF disease criteria and inflammatory marker, also to investigate if it can serve as a marker for subclinical inflammation. Results: Forty-one children diagnosed with FMF and 41 sex and age-matched apparently healthy children as a control group were included in this study, serum prolidase was measured by ELISA. The mean ± SD serum level of prolidase among FMF patients was 0.6 ± 0.2 mU/ml × 10
4 , while among the control group, it was 1.3 ± 1.4 mU/ml × 104 , a statistically significant difference existed between both groups, p value = 0.001. The level of serum prolidase was not correlated with FMF severity score, inflammatory markers, and other FMF disease criteria. Conclusion: Serum prolidase level was lower among FMF patients during the attack-free period than in the healthy control group, it was not correlated with disease severity and was not predictive of the presence of subclinical inflammation. Further studies are needed to highlight the role of serum prolidase in FMF children. [ABSTRACT FROM AUTHOR]- Published
- 2024
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37. Variables for differential diagnosis of familial Mediterranean fever: Multiple correspondence analysis of a large Japanese cohort.
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Dai Kishida, Akinori Nakamura, Masahide Yazaki, Ayako Tsuchiya-Suzuki, Takanori Ichikawa, Yasuhiro Shimojima, and Yoshiki Sekijima
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BEHCET'S disease , *FAMILIAL Mediterranean fever , *INFLAMMATORY bowel diseases , *GENETIC disorders , *MYELODYSPLASTIC syndromes , *PHARYNGITIS - Abstract
Objectives: We investigated differential diagnoses that should be noted with familial Mediterranean fever (FMF) and useful variables for differentiation in a large Japanese cohort. Methods: Patients aged ≥13 years who were clinically suspected of having FMF by Livneh criteria were studied 1 year after MEFV genetic testing. Patients ultimately diagnosed with other diseases were studied, and the association among each disease, patient characteristics, and clinical variables were analysed using multiple correspondence analysis. Results: In total, 504 patients were included in this study; 34 (6.7%) were diagnosed with a disease other than FMF. The most common diagnosis was Behçet's disease, followed by periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, inflammatory bowel disease, myelodysplastic syndromes (MDS), and infectious diseases. Although none of the non-FMF patients had exon 10 variants, some responded to colchicine treatment. Multiple correspondence analysis suggested that atypical symptoms such as stomatitis were associated with Behçet's disease and PFAPA syndrome, whereas characteristic situations such as disease onset ≥40 years were associated with MDS and infectious diseases. Conclusion: Careful follow-ups and reanalysis of the diagnosis should be performed for patients with atypical findings and no exon 10 variants, even if their symptoms meet the clinical criteria for FMF. [ABSTRACT FROM AUTHOR]
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- 2024
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38. Examination of cardiac functions during acute attack and remission period in children with familial Mediterranean fever.
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Gunay, Yusuf, Karagozlu, Fatih, Gemici, Sanem, Yilmaz, Seyma Sukran, Sahin, Sezgin, Barut, Kenan, Kasapcopur, Ozgur, and Dedeoglu, Reyhan
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SPECKLE tracking echocardiography , *FAMILIAL Mediterranean fever , *ECHOCARDIOGRAPHY , *LYMPHOPENIA , *ACUTE phase proteins , *PERICARDITIS , *BLOOD sedimentation - Abstract
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease characterized by recurring serosal inflammation. Cardiac involvement in FMF commonly manifests as pericarditis and pericardial effusion; however, there is limited research on myocardial function. This study aimed to assess cardiac functions during active inflammation and remission periods of FMF patients and investigate the cardiac effects of inflammation during the attack period. Thirty-eight FMF patients without additional cardiac diseases were included in the study. Demographic characteristics, clinical symptoms, family history, and MEFV gene analysis results were obtained retrospectively. Blood tests, blood pressure measurements, electrocardiogram evaluations, conventional echocardiography, and speckle tracking echocardiography were performed during the attack and remission periods. Disease severity was assessed using the Pras scoring system. During the attack period, FMF patients exhibited significantly higher leukocyte count, neutrophil count, C-reactive protein, and erythrocyte sedimentation rate compared to the remission period (p < 0.005). Speckle tracking echocardiography revealed decreased function in the inferior segments of the left ventricle during the attack period (p < 0.005). Right ventricular function was more affected in the moderate disease group. FMF patients with lymphopenia during the attack demonstrated more impaired right ventricular function compared to those with normal lymphocyte count. Conclusions: FMF patients experience cardiac abnormalities during active inflammation, highlighting the importance of monitoring cardiac functions in these patients. Speckle tracking echocardiography can provide valuable insights into cardiac involvement in FMF. These findings emphasize the cardiac impact of FMF inflammation and the significance of long-term cardiac function monitoring in the management of FMF patients. What is Known: • The current literature lacks studies investigating myocardial function in the pediatric population during the attack period of this particular disease. • Our objective was to assess the alterations in cardiac function during the attack and remission periods, considering clinical manifestations, disease severity, acute phase reactant levels, and mutation type. We also evaluated the pattern of cardiac involvement and the affected cardiac areas by comparing remission and attack periods. What is New: • Several studies have demonstrated a rise in the prevalence of ischemic cardiac disease and mortality among individuals with FMF. • Investigating cardiac involvement during the attack period in FMF patients can provide valuable insights for the prevention of long-term complications. [ABSTRACT FROM AUTHOR]
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- 2024
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39. Is there any difference between M694V heterozygote and non-exon 10 mutations on symptoms onset and response to colchicine treatment?
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Dundar, Hatice Adıgüzel, Türkuçar, Serkan, Açarı, Ceyhun, Gücenmez, Özge Altuğ, Makay, Balahan, and Ünsal, Erbil
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COLCHICINE ,FAMILIAL Mediterranean fever ,EXONS (Genetics) ,PHENOTYPES ,DATA analysis - Abstract
Copyright of Pamukkale Medical Journal is the property of Pamukkale Journal of Medicine and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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- 2024
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40. Interleukin-21 and Interleukin-23 levels in familial Mediterranean Fever before and after treatment: the role of cytokines in disease pathogenesis
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Mutlu Hizal, Abdurrahman Tufan, Ridvan Mercan, Ozge Tugce Pasaoglu, Hatice Pasaoglu, Seminur Haznedaroglu, Berna Goker, and Mehmet Akif Ozturk
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Familial mediterranean fever ,Interleukin-21 ,Interleukin-23 ,T helper 17 ,Medicine ,Science - Abstract
Abstract In a previous study, it has been shown that the population of Th17 lymphocytes was increased in patients with FMF. IL-21 and IL-23 play significant roles in the production and differentiation of Th17 cells. In this study, we aimed to evaluate serum levels of IL-21 and IL-23 in FMF patients both at diagnosis and after treatment, and to compare these levels with those of healthy controls. Twenty-seven newly diagnosed patients with FMF in attack-free periods and twenty-seven healthy volunteers enrolled in the study. The groups were comparable with respect to age and gender. IL-21 and IL-23 levels in serum samples from patients at the time of diagnosis, in remission after treatment, and from the control groups were analysed using the ELISA method. There was no significant difference between the cytokine levels of the patient group at the time of diagnosis and the cytokine levels of the control group (for IL-21, p: 0.28 and for IL-23, p: 0.56). Similarly, there was no significant difference between the patients’ cytokine levels at the time of diagnosis and after treatment (for IL-21, p: 0.99 and for IL-23, p: 0.08). Interleukin levels at the time of diagnosis did not differ among patient groups based on the presence of clinical findings or the M694V genotype. Our results suggest that IL-21 and IL-23 do not play a role in the pathogenesis of the disease. However, while interpreting these findings, it should be considered that patients with active episodes were excluded and cytokine levels were not measured in tissue samples.
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- 2024
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41. Reliability of a generative artificial intelligence tool for pediatric familial Mediterranean fever: insights from a multicentre expert survey
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Saverio La Bella, Marina Attanasi, Annamaria Porreca, Armando Di Ludovico, Maria Cristina Maggio, Romina Gallizzi, Francesco La Torre, Donato Rigante, Francesca Soscia, Francesca Ardenti Morini, Antonella Insalaco, Marco Francesco Natale, Francesco Chiarelli, Gabriele Simonini, Fabrizio De Benedetti, Marco Gattorno, and Luciana Breda
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Artificial intelligence ,AI ,Pediatric rheumatology ,Familial mediterranean fever ,Generative artificial intelligence ,FMF ,Pediatrics ,RJ1-570 ,Diseases of the musculoskeletal system ,RC925-935 - Abstract
Abstract Background Artificial intelligence (AI) has become a popular tool for clinical and research use in the medical field. The aim of this study was to evaluate the accuracy and reliability of a generative AI tool on pediatric familial Mediterranean fever (FMF). Methods Fifteen questions repeated thrice on pediatric FMF were prompted to the popular generative AI tool Microsoft Copilot with Chat-GPT 4.0. Nine pediatric rheumatology experts rated response accuracy with a blinded mechanism using a Likert-like scale with values from 1 to 5. Results Median values for overall responses at the initial assessment ranged from 2.00 to 5.00. During the second assessment, median values spanned from 2.00 to 4.00, while for the third assessment, they ranged from 3.00 to 4.00. Intra-rater variability showed poor to moderate agreement (intraclass correlation coefficient range: -0.151 to 0.534). A diminishing level of agreement among experts over time was documented, as highlighted by Krippendorff’s alpha coefficient values, ranging from 0.136 (at the first response) to 0.132 (at the second response) to 0.089 (at the third response). Lastly, experts displayed varying levels of trust in AI pre- and post-survey. Conclusions AI has promising implications in pediatric rheumatology, including early diagnosis and management optimization, but challenges persist due to uncertain information reliability and the lack of expert validation. Our survey revealed considerable inaccuracies and incompleteness in AI-generated responses regarding FMF, with poor intra- and extra-rater reliability. Human validation remains crucial in managing AI-generated medical information.
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- 2024
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42. Metabolic syndrome among Egyptian children with Familial Mediterranean Fever: a case–control study
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Shimaa Atef, Huda Marzouk, Mariam Mahmoud El-khity, and Hend Mohamed Abu Shady
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Familial Mediterranean fever ,Insulin resistance ,Metabolic syndrome ,Pediatrics ,RJ1-570 - Abstract
Abstract Background Familial Mediterranean fever (FMF) is the most prevalent inherited autoinflammatory disease globally. Metabolic syndrome (MetS) is a cluster of interrelated risk factors; insulin resistance, obesity, dyslipidemia, and hypertension are the main constituents of MetS. Aim This study aimed to investigate components of metabolic syndrome among Egyptian children with FMF during the attack-free period. Patients and methods This is a case–control study that was conducted in the Pediatric Rheumatology Outpatient Clinic and Pediatric Endocrinology Clinic, Children’s Hospital, Faculty of Medicine, Cairo University. It was conducted on 40 patients with FMF. The patients included were of both sexes and aged 10 years or older, during the FMF attack-free period; they were compared to 40 apparently healthy age- and sex-matched children as controls. All subjects in this study were subjected to detailed history taking, anthropometric measurements, general and systemic examinations. Laboratory evaluation (at the time of the study) was done at time of study, in the form of CBC with differential, BUN, creatinine, ESR, serum amyloid A, urine analysis, serum insulin, fasting blood glucose, and lipid profile. FMF gene mutations were collected from patients’ files. Results The mean ± SD age of FMF patients was 12.65 ± 1.82 (10–17) years, while the mean ± SD age of the control group was 12.6 ± 1.82 (10–16) years. Among FMF patients, 50% were males, and 50% were females (F:M = 1:1), while in the control group, 47.5% were females, and 52.5% were males. All FMF patients were during the attack-free period. There was a statistically significant difference between both groups regarding insulin resistance, being more frequent among the FMF patients’ group, with a p-value of 0.025. Conclusion None of our FMF patients met the criteria for the definition of metabolic syndrome, but there was a significant difference between cases and control regarding insulin resistance with higher frequency among FMF patients, probably due to the ongoing subclinical inflammation. This indicates that children with FMF may be at a higher risk of getting metabolic syndrome later on in life.
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- 2024
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43. Evaluation of serum prolidase level in children with Familial Mediterranean Fever
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Iman Khaled Eyada, Walaa Abdelfattah, Ahmed Mohamed Naguib, and Hend Mohamed Abu Shady
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Colchicine ,Familial Mediterranean Fever ,Prolidase ,Diseases of the musculoskeletal system ,RC925-935 - Abstract
Abstract Background FMF (Familial Mediterranean Fever) is the most prevalent autoinflammatory disease. It arises due to mutations in the pyrin-encoding MEFV gene. Prolidase, an enzyme culpable of splitting the bonds of proline-containing dipeptides, is essential for matrix remodeling, collagen turnover, and cell proliferation. It has a crucial role in inflammation. Aim To compare serum levels of prolidase between FMF children during the attack-free periods and healthy children and to correlate it with different FMF disease criteria and inflammatory marker, also to investigate if it can serve as a marker for subclinical inflammation. Results Forty-one children diagnosed with FMF and 41 sex and age-matched apparently healthy children as a control group were included in this study, serum prolidase was measured by ELISA. The mean ± SD serum level of prolidase among FMF patients was 0.6 ± 0.2 mU/ml × 104, while among the control group, it was 1.3 ± 1.4 mU/ml × 104, a statistically significant difference existed between both groups, p value = 0.001. The level of serum prolidase was not correlated with FMF severity score, inflammatory markers, and other FMF disease criteria. Conclusion Serum prolidase level was lower among FMF patients during the attack-free period than in the healthy control group, it was not correlated with disease severity and was not predictive of the presence of subclinical inflammation. Further studies are needed to highlight the role of serum prolidase in FMF children.
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- 2024
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44. Serum Calprotectin in Children with Familial Mediterranean Fever
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Huda Marzouk, Fatma Abdel Wahab Abdel Maksoud, Weam Abdel Sadek Mahmoud, and Hend Mohamed Abu Shady
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serum calprotectin ,colchicine ,fmf ,familial mediterranean fever ,attack-free period ,Pediatrics ,RJ1-570 - Abstract
Background: Familial Mediterranean fever (FMF) is the most prevalent inherited autoinflammatory disease worldwide. Ongoing subclinical inflammation, induces amyloidosis, even during the attack-free periods despite colchicine therapy. Serum calprotectin (CLP) belongs to the S100 protein family and was proposed as an indicator of inflammation in several diseases. Aim of the work: To evaluate serum calprotectin (CLP) levels among children with FMF during the attack-free periods. Patients and Methods: This cross-sectional case-control study included 35 children diagnosed with FMF in the attack-free period who were following at the Pediatric Rheumatology Outpatient Clinic, Children's Hospital, Faculty of Medicine Cairo University, and 35 children as a control group. This study was conducted during November 2020 to April 2021. Serum CLP was measured by ELISA. Results: The mean ± SD age of our studied FMF cohort was 9.23 ± 2.6 years; 15 (42.9%) were males, and 20 (57.1%) were females compared to the mean ± SD age of the control group 9.0 ± 2.6, 21 (60%) were males, and 14 (40%) were females(p=0.665 and p=0.151 respectively). The range of serum calprotectin levels among our FMF patients during the attack-free period was (15.4-1306) ng/ml, while the range in the control group, its range was (0.2 - 77) ng/ml with mean± SD was 24.62±16.66 ng/ml, (p-value = 0.001). Of those with FMF 25 (71.4%) had normal level of CLP (mean± SD= 31.6± 9.2 and range=15.4 – 48.6 ng/ml) and 10 (28.6%) had elevated CLP (mean± SD= 296.79±442.33 and range= 55 – 1306 ng/ml). There were no significant correlations between serum CLP levels and FMF clinical presentations, disease severity scores, different laboratory data, or types of MEFV gene mutation p- values = 0.697, 0.696 and 0.146 respectively. Conclusion: Serum CLP levels were elevated in a subset of children with FMF during the attack-free period. Serum CLP did not correlate with any studied parameter. The specificity and sensitivity of diagnostic accuracy and outcome prognostic ability of CLP in FMF remain to be studied.
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- 2024
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45. Serum Uric Acid Level Among Children with Familial Mediterranean Fever
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Huda Marzouk, Shimaa Atef, Mariam Mohamed El-Khity, and Hend Mohamed Abu Shady
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colchicine ,familial mediterranean fever ,gfr ,uric acid ,attack-free periods ,Pediatrics ,RJ1-570 - Abstract
Background: Familial Mediterranean fever (FMF) is the most frequent form of inherited periodic fever syndromes. It is caused by a mutation in the MEFV gene and is transmitted by autosomal recessive mode. It is marked by recurring fever episodes with a range of symptoms due to inflammation in the pleura, synovium, and peritoneum. In FMF patients, subclinical inflammation frequently persists throughout the attack-free periods. Uric acid is a product of purine nucleotides catabolism. It is elevated in tissue damage. Aim of the work: To assess uric acid levels and glomerular filtration rate (GFR) in children with FMF during the attack-free period. Subjects and Methods: This cross-sectional study assessed uric acid levels and GFR in 40 children with FMF during the attack-free period. They were enrolled from the Pediatric Rheumatology Outpatient Clinic, Children's Hospital, Faculty of Medicine, Cairo University. Their uric acid levels were compared to a control group of 40 healthy age and sex-matched children. Results: The mean ± SD age of FMF patients was 12.65 ± 1.82 years and 50% were males while thecontrolgroupmeanagewas12.6±1.82years(p=0.903)and52.5%weremales(p=0.823). The mean± SD GFR among FMF patients was 124.75 ± 43.91(ml/min/1.73m2), while among the control group it was 155.48 ± 63.17 ml/min/1.73m2 (p =0.054). Seven (17.5%) FMF patients had reduced GFR (mean ± SD = 84.29± 3.15 ml/min/1.73m2). The mean ± SD uric acid folds of upper level of normal was 0.55 ± 0.13 among the control group, 0.75±0.21in the FMF group, 0.49 ± 0.21 among those with normal GFR and 0.74 ± 0.21 among those with reduced GFR respectively (p=0.286). Three (7.5%) of the FMF patients had microalbuminuria and normal GFR. Conclusion: Uric acid levels were within normal range for age among children with FMF during the attack-free periods and were not predicative of impaired GFR or presence of albuminuria. In a subset of FMF patients, GFR was impaired and others had microalbuminuria during the attack-free periods despite having normal kidney functions. More studies are needed to highlight the risk factors and value of GFR and microalbuminuria in follow up of children with FMF. SUA levels were not elevated in children with FMF during the attack-free period.
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- 2024
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46. Impact of multiple MEFV variants of unknown significance on the diagnosis and clinical presentation of familial Mediterranean fever
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Dai Kishida, Masahide Yazaki, Akinori Nakamura, Ayako Tsuchiya-Suzuki, Takanori Ichikawa, Yasuhiro Shimojima, and Yoshiki Sekijima
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Familial mediterranean fever ,variants of unknown significance ,multiple VUS ,colchicine ,Immunologic diseases. Allergy ,RC581-607 - Abstract
The detection of variants of unknown significance (VUS) in familial Mediterranean fever (FMF) is common; however, their diagnostic value remains elusive, and the interpretation of multiple VUS remains difficult. Therefore, we examined FMF diagnosis-associated factors 1-year post-genetic testing in patients with only VUS and assessed the impact of multiple VUS on diagnosis and clinical features. A 1-year follow-up was conducted on patients clinically suspected of having FMF without confirmatory diagnosis owing to the presence of only VUS. Clinical features were compared between patients with a single VUS and those with multiple VUS among patients diagnosed with FMF. Among 261 patients followed up, 202 were diagnosed with FMF based on clinical judgment. No specific clinical symptoms or variant patterns at genetic testing were associated with diagnosis at 1 year. Multiple VUS was significantly and independently associated with a lower response to colchicine than single VUS among patients diagnosed with FMF. However, clinical symptoms showed no correlation with the number of VUS. In conclusion, predicting FMF diagnosis 1-year post-genetic testing in patients with only VUS remains challenging. Moreover, the impact of multiple VUS on FMF may be limited owing to the lack of correlation with clinical features, except colchicine response.
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- 2024
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47. Digitization in Genetics and Diagnostics Laboratories in Armenia
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Babikyan, Davit, Sarkisian, Tamara, Kozlakidis, Zisis, editor, Muradyan, Armen, editor, and Sargsyan, Karine, editor
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- 2024
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48. Maxillary sinus augmentation in a patient with hereditary angioedema with normal C1 inhibitor and familial Mediterranean fever.
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Watanabe, Takuma, Mano, Nodoka, and Yamashita, Kouhei
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Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) (HAE-nC1-INH) is a rare disease that presents with laryngeal edema due to oral surgical procedures. Familial Mediterranean fever (FMF) is a disorder commonly characterized by an autosomal recessive inflammatory process, and manifests in the oral cavity and facial structures. A 50-year-old woman with HAE-nC1-INH and FMF was referred to our department for bone augmentation in the right maxillary molar region. We performed lateral window sinus augmentation under the backup support of an anesthesiologist. A hematologist used intravenous Berinert® and oral Orladeyo® to prevent perioperative angioedema attacks. The postoperative course was uneventful. Regarding surgical intervention in patients with HAE, interdepartmental cooperation is crucial to prevent angioedema attacks and prepare for life-threatening complications. Oral hygiene and occlusion should be considered in the dental implant treatment of patients with FMF. Every oral and maxillofacial surgeon and dental practitioner should familiarize themselves with HAE and FMF. [ABSTRACT FROM AUTHOR]
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- 2024
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49. Coexistence of familial Mediterranean fever and seronegative spondyloarthritis: peculiarities of the course
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Knarik V. Ginosyan, Valentina S. Vardanyan, Nikolai G. Eghiazaryan, Zinaida T. Jndoyan, Irina S. Ghazinyan, and Aren Yu. Bablumyan
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familial mediterranean fever ,seronegative spondyloarthritis ,sacroiliitis ,Medicine - Abstract
Familial Mediterranean fever (FMF) is an autosomal recessive disease distributed among populations of Mediterranean origin – Armenians, Sephardi Jews, Arabs, Turks. There are numerous clinical observations regarding combination of FMF, as a classical representative of autoinflammatory diseases, with systemic diseases of connective tissue. Seronegative spondyloarthritis (SpA) are the most interesting disorders from this point of view, as far as sacroiliitis – an essential feature of SpA, may also present as a part of joint syndrome in FMF. The main objective of this clinical study was the investigation of the peculiarities of courses of FMF and SpA in case of their coexistence. We studied 126 patients with FMF, SpA and coexistence of both. According to results, patients with the overlap of FMF with SpA had relatively milder course of disease in comparison with each disease separately. Comparative clinical and instrumental characteristics of FMF-associated disorders had shown that in FMF-SpA overlap the symptoms of both diseases are less severe.
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- 2024
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50. Coexistence of familial mediterranean fever and guillain barre syndrome
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İsmail Tunçekin and Murat Toprak
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familial mediterranean fever ,guillain barre syndrome ,immune mediated disease ,Medicine - Abstract
Familial Mediterranean Fever (FMF) is the most common autoinflammatory disease characterized by recurrent episodes of abdominal pain, fever and serositis. It is more common in countries around the Mediterranean. Guillain Barre Syndrome (GBS) is an acute, immune-mediated polyneuropathy affecting peripheral nerves and nerve roots. Central nervous system involvement is not common in the course of FMF. Guillain Barre Syndrome developed in a patient who was followed with colchicine treatment for 1 year due to Familial Mediterranean Fever. In a literature study, no association of these two diseases was found. This case is presented to draw attention to the coexistence of immune-mediated Familial Mediterranean Fever and Guillain Barre Syndrome.
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- 2024
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