- Abdominal epilepsy as an unusual cause of abdominal pain: a case report. [Journal Article]
- AHAfr Health Sci 2016; 16(3):877-879
- CONCLUSIONS: The cause of chronic recurrent paroxymal abdominal pain is difficult for the clinicians to diagnose in childhood. A lot of disease may lead to paroxysmal gastrointestinal symptoms like familial mediterranean fever and porfiria. Abdominal epilepsy is one of the rare but easily treatable cause of abdominal pain.In conclusion, abdominal epilepsy should be suspected in children with recurrent abdominal pain.
- Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation. [Journal Article]
- PNProc Natl Acad Sci U S A 2016 Nov 22
- Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease worldwide. It is caused by mutations in the inflammasome adaptor Pyrin, but how FMF mutations alter signaling ...
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease worldwide. It is caused by mutations in the inflammasome adaptor Pyrin, but how FMF mutations alter signaling in FMF patients is unknown. Herein, we establish Clostridium difficile and its enterotoxin A (TcdA) as Pyrin-activating agents and show that wild-type and FMF Pyrin are differentially controlled by microtubules. Diverse microtubule assembly inhibitors prevented Pyrin-mediated caspase-1 activation and secretion of IL-1β and IL-18 from mouse macrophages and human peripheral blood mononuclear cells (PBMCs). Remarkably, Pyrin inflammasome activation persisted upon microtubule disassembly in PBMCs of FMF patients but not in cells of patients afflicted with other autoinflammatory diseases. We further demonstrate that microtubules control Pyrin activation downstream of Pyrin dephosphorylation and that FMF mutations enable microtubule-independent assembly of apoptosis-associated speck-like protein containing a caspase recruitment domain (ASC) micrometer-sized perinuclear structures (specks). The discovery that Pyrin mutations remove the obligatory requirement for microtubules in inflammasome activation provides a conceptual framework for understanding FMF and enables immunological screening of FMF mutations.
- Evaluation of upper abdominal organs with DWI in patients with familial Mediterranean fever. [Journal Article]
- ARAbdom Radiol (NY) 2016 Dec 02
- CONCLUSIONS: Present findings indicate that the presence of FMF and its clinical progression expressed by proteinuria can be differentially determined with renal DWI.
- Vitamin D levels in children with familial Mediterranean fever. [Journal Article]
- CEClin Exp Rheumatol 2016 Nov 10
- Letter to the Editor - Arrhythmic risk evaluation in familial mediterranean fever: the role of electrocardiographic and echocardiographic parameters. [Journal Article]
- EREur Rev Med Pharmacol Sci 2016; 20(22):4623-4625
- Approach to the patients with inadequate response to colchicine in familial Mediterranean fever. [Review]
- BPBest Pract Res Clin Rheumatol 2016; 30(2):296-303
- Familial Mediterranean fever (FMF) is the most common form of monogenic autoinflammatory conditions, and response to colchicine has been considered as one of its distinctive features among other here...
Familial Mediterranean fever (FMF) is the most common form of monogenic autoinflammatory conditions, and response to colchicine has been considered as one of its distinctive features among other hereditary periodic fever disorders. Prophylactic colchicine has been shown to be effective in the prevention of inflammatory attacks and development of amyloidosis. However, the highest tolerable doses of colchicine may not be adequate enough to manage these goals in approximately 5% of FMF patients. Inadequate response to colchicine in fully compliant FMF patients may be associated with genetic and/or environmental factors affecting disease severity and colchicine bioavailability. Clarification of the molecular pathogenic mechanisms of FMF has revealed that interleukin-1 beta (IL-1β) cytokine is the most likely target to attack, and several case reports and case series have already documented the efficacy and safety of available anti-IL-1 agents, such as anakinra, rilonacept, and canakinumab in those patients inadequately responding to colchicine. Characterization and early identification of those FMF patients with uncontrolled inflammatory activity have become more important after the availability of new treatment options for the prevention of disease-associated complications and permanent damages.
- Anakinra for colchicine resistant familial Mediterranean fever - A randomized, double blind, placebo-controlled trial. [Journal Article]
- ARArthritis Rheumatol 2016 Nov 11
- Objective - Familial Mediterranean fever (FMF) is refractory to colchicine prophylaxis in 10-20% of patients. A patient series showed anakinra, an IL-1 blocking agent, to prevent FMF attacks in colch...
Objective - Familial Mediterranean fever (FMF) is refractory to colchicine prophylaxis in 10-20% of patients. A patient series showed anakinra, an IL-1 blocking agent, to prevent FMF attacks in colchicine-resistant FMF (CRFMF). Here we studied the efficacy and safety of anakinra in the treatment of CRFMF, using a randomized controlled trial. Methods - CRFMF patients receiving colchicine (≥1.5 to ≤3 mg/day) were recruited and randomly assigned to receive anakinra or placebo (vehicle). Treatment duration was 4 months. Primary efficacy outcomes were the number of attacks per month, and the number of patients with less than one attack per month. Quality of life was assessed using a 10 grade visual analogue scale, and safety was assessed according to the number and severity of adverse events. Results - Twenty-five patients (14 women) were enrolled, 12 for the anakinra and 13 for the placebo group. Mean numbers of attacks per patient per month were 1.7 ±1.7 (anakinra) and 3.5 ±1.9 (placebo) (p=0.037). Six (anakinra) versus 0 (placebo) patients had less than one attack per month (p=0.005). A beneficial effect of anakinra was noted for attacks per month of joints (0.8 ±1.6 versus 2.1 ±1.1, p=0.019) and for quality of life (7.7 ±2.3 versus 4.2 ±2.9, p=0.045). Numbers of adverse events per patient per month were comparable between the anakinra and the placebo groups (2.03 ±1.75 vs. 3.34 ±2.5, p=0.22). There were no severe adverse events. Conclusion - In this randomized controlled trial, anakinra appears as an effective and safe treatment for CRFMF. This article is protected by copyright. All rights reserved.
- Clinical and genetic association, radiological findings and response to biological therapy in seven children from Qatar with non-bacterial osteomyelitis. [Journal Article]
- IJInt J Rheum Dis 2016 Nov 09
- CONCLUSIONS: Non-bacterial osteomyelitis may coexist with other autoinflammatory diseases. MRI remains a favorable diagnostic tool and genetic testing may have a limited role in selected cases. Infliximab and canakinumab are associated with variable outcomes, and 6-week or less dosing intervals for both medications may be more effective.
- Marshall syndrome in a young child, a reality: Case report. [Journal Article]
- MMedicine (Baltimore) 2016; 95(44):e5065
- CONCLUSIONS: Pediatricians should consider the MS diagnosis in the context of recurrent fever episodes associated with at least one of the following symptoms: pharyngitis, cervical adenopathy or aphthous stomatitis. Despite the indication for tonsillectomy in young children being controversial, in this case the surgery led to the total remission of the disease.
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- Concordance between CRP and SAA in familial Mediterranean fever during attack-free period: A study of 218 patients. [Journal Article]
- CBClin Biochem 2016 Nov 10
- CONCLUSIONS: CRP<5mg/L in FMF children or 8.75mg/L in FMF adults during attack-free periods might be a convenient substitute to guide therapeutic decisions when SAA is unavailable.