- Invited Commentary: Pelvic MRI Is Now the Basis of Personalized Fibroid Care
No abstract
- Dysregulation of miRNA-30e-3p targeting IL-1β in an international cohort of systemic autoinflammatory disease patients
Autoinflammation is the standard mechanism seen in systemic autoinflammatory disease (SAID) patients. This study aimed to investigate the effect of a candidate miRNA, miR-30e-3p, which was identified in our previous study, on the autoinflammation phenotype seen in SAID patients and to analyze its expression in a larger group of European SAID patients. We examined the potential anti-inflammatory effect of miR-30e-3p, which we had defined as one of the differentially expressed miRNAs in microarray...
- Behçet disease, familial Mediterranean fever and MEFV variations: More than just an association
Behçet disease (BD) and familial Mediterranean fever (FMF) are two inflammatory disorders that share many features including historical background, ethnical distribution and inflammatory characteristics. Several studies suggested that BD and FMF might occur in the same individual more commonly than expected. Additionally, the pathogenic MEFV gene variants, especially p.Met694Val, activating the inflammasome complex have been shown to increase the risk for BD in regions where both FMF and BD are...
- Familial Mediterranean Fever and multiple sclerosis treated with ocrelizumab: Case report
BACKGROUND: Familial Mediterranean Fever (FMF) is associated with increased risk of multiple sclerosis (MS). Optimal treatment of patients with comorbid FMF and MS remains uncertain.
- A young woman with fever and polyserositis caused by familial Mediterranean fever
No abstract
- MicroRNAs in inflammasomopathies
microRNAs (miRNAs) are small non-coding RNA sequences that negatively regulate the expression of protein-encoding genes at the post-transcriptional level. They play a role in the regulation of inflammatory responses by controlling the proliferation and activation of immune cells and their expression is disrupted in several immune-mediated inflammatory disorders. Among these, autoinflammatory diseases (AID) are a group of rare hereditary disorders caused by abnormal activation of the innate...
- Authors' response: Main article "Apical fibrosis was the most common incidental pulmonary finding in a familial Mediterranean fever cohort"
No abstract
- Food Insecurity and Parent Feeding Practices in Urban and Rural Children Ages 7-12 years
CONCLUSIONS AND IMPLICATIONS: Food insecurity was associated with less frequent family breakfast, but not with other parent feeding practices. Future studies could investigate supportive mechanisms for positive feeding practices in households experiencing food insecurity.
- Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation
Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disorder. FMF is caused by mutations in the MEFV gene, encoding pyrin, an inflammasome sensor. The best characterized pathogenic mutations associated with FMF cluster in exon 10. Yet, mutations have been described along the whole MEFV coding sequence. Exon 10 encodes the B30.2 domain of the pyrin protein, but the function of this human-specific domain remains unclear. Pyrin is an inflammasome sensor detecting RhoA...
- Factors affecting patient-acceptable symptom states and treatment decision in familial Mediterranean fever
BACKGROUND: Familial Mediterranean fever [FMF] is the most common autoinflammatory disease characterized by inflammatory attacks of fever and polyserositis. Patients' quality of life is significantly affected due to recurrent excruciating pain attacks and complications. This study is performed to evaluate the parameters most affecting patients' satisfaction from treatment.
- Is apical lung fibrosis really associated with familial Mediterranean fever?
No abstract
- Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations
Familial Mediterranean Fever (FMF) is a rare, hereditary, auto-inflammatory disease. The aims of this study were to explore the time trend and geographical distribution of hospitalizations in Spain from 2008 to 2015. We identified hospitalizations of FMF from the Spanish Minimum Basic Data Set at hospital discharge, using ICD-9-CM code 277.31. Age-specific and age-adjusted hospitalization rates were calculated. The time trend and the average percentage change were analyzed using Joinpoint...
- Co-occurrence of familial Mediterranean fever with systemic lupus erythematosus in South Asian population
CONCLUSION: This investigation demonstrates that FMF is more prevalent in a South-Asian population cohort of SLE patients.
- MEFV gene mutation spectrum in patients with familial mediterranean fever
No abstract
- Importance of hematological markers in familial Mediterranean fever in terms of disease severity and amyloidosis
There are limited follow-up parameters for familial Mediterranean fever (FMF) related to disease severity and amyloidosis. Some hematological markers are emerging to assess inflammation. In this study, we hypothesized that some hematological parameters could be used to determine disease severity and amyloidosis in FMF. We included 274 adult FMF patients, and evaluated the relationship between neutrophil lymphocyte ratio (NLR), monocyte-lymphocyte ratio (MLR) and platelet-lymphocyte ratio (PLR),...
- Genotype-Phenotype Associations of Children With Familial Mediterranean Fever in a Cohort Consisting of M694V Mutation and Implications for Colchicine-Resistant Disease
CONCLUSIONS: Clinical manifestations of FMF at diagnosis with a M694V allele were predominantly influenced by the M694V rather than the second allele mutations. Although homozygous M694V was associated with the most severe form, the presence of compound heterozygosity with a VUS did not affect disease severity or clinical features. Homozygous M694V confers the highest risk of colchicine-resistant disease.
- Safety and efficacy of vanzacaftor-tezacaftor-deutivacaftor in adults with cystic fibrosis: randomised, double-blind, controlled, phase 2 trials
BACKGROUND: Elexacaftor-tezacaftor-ivacaftor has been shown to be safe and efficacious in people with cystic fibrosis and at least one F508del allele. Our aim was to identify a novel cystic fibrosis transmembrane conductance regulator (CFTR) modulator combination capable of further increasing CFTR-mediated chloride transport, with the potential for once-daily dosing.
- Pre-eclampsia screening in Denmark (PRESIDE): national validation study
CONCLUSION: In this large Danish multicenter study, the FMF algorithm based on maternal characteristics, MAP, UtA-PI, PlGF and PAPP-A predicted 77.4% of cases with pre-eclampsia with delivery < 34 weeks and 66.8% of cases with pre-eclampsia with delivery < 37 weeks of gestation at a SPR of 10%, suggesting that the performance of the algorithm in a Danish cohort matches that in other populations. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on...
- The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort
CONCLUSION: We found the sensitivity of the Eurofever/PRINTO classification criteria to be low as genotypic changes between populations cause phenotypic differences. For this reason, we think that patient-based evaluation is correct rather than standard classification criteria in real life. Key-points • In systemic autoinflammatory diseases, common variants in the populations may alter the phenotype, and making it difficult to classify some patients with the current classification criteria. • In...
- Effect of Colchicine on Recurrent Serositis in Familial Mediterranean Fever
No abstract
Research: The Latestdeveloper2019-09-06T20:28:21+00:00