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benign paroxysmal peritonitis [keywords]
- Misplaced central venous catheter in the vertebral artery: endovascular treatment of foreseen hemorrhage during catheter withdrawal. [JOURNAL ARTICLE]
- J Vasc Access 2014 Jul 8; 0(0):0.
We report on the endovascular management of hemorrhage with stent-graft due to a misplaced central venous catheter in the vertebral artery (VA) during percutaneous internal jugular vein catheterization in a child.A 16-year-old female was presented with the diagnosis of familial Mediterranean fever related chronic renal insufficiency. An attempt was made to place a central venous catheter via the right internal jugular vein without image guidance and the patient experienced dyspnea and pain at the catheter insertion site. Computerized tomography (CT) showed hemorrhage in the cervical region and upper mediastinum, also reformatted images showed that the catheter was passing through the proximal part of the VA and terminating in the right mediastinum. The catheter was removed during manual compression under angio-flouroscopic monitoring and ongoing extravasation was observed. A stent-graft was placed to the bleeding site of the VA.Angiography immediately after the stent-graft placement revealed complete disappearance of extravasation and patency of vertebral and subclavian arteries.Central venous catheterization (CVC) is not a risk-free procedure and arterial injuries are in a wide spectrum from a simple puncture to rupture of the artery. Inadvertent VA cannulation is a rare and serious complication necessitating prompt diagnosis and early treatment. If an arterial injury with a large-caliber catheter occurs, endovascular treatment with stent-graft seems to be a safe and effective option in terms of achieving hemostasis and preserving arterial patency. Recent findings suggest that endovascular management of inadvertent cervical arterial injury secondary to CVC seems to be the safest strategy.
- Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry. [JOURNAL ARTICLE]
- Ann Rheum Dis 2014 Jul 18.
To evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry, with a focus on genotype-phenotype correlations and predictive disease severity markers.A web-based registry retrospectively collected data on patients with CAPS. Experts in the disease independently validated all cases. Patients carrying NLRP3 variants and germline-mutation-negative patients were included.136 patients were analysed. The median age at disease onset was 9 months, and the median duration of follow-up was 15 years. Skin rash, musculoskeletal involvement and fever were the most prevalent features. Neurological involvement (including severe complications) was noted in 40% and 12% of the patients, respectively, with ophthalmological involvement in 71%, and neurosensory hearing loss in 42%. 133 patients carried a heterozygous, germline mutation, and 3 patients were mutation-negative (despite complete NLRP3 gene screening). Thirty-one different NLRP3 mutations were recorded; 7 accounted for 78% of the patients, whereas 24 rare variants were found in 27 cases. The latter were significantly associated with early disease onset, neurological complications (including severe complications) and severe musculoskeletal involvement. The T348M variant was associated with early disease onset, chronic course and hearing loss. Neurological involvement was less strongly associated with V198M, E311 K and A439 V alleles. Early onset was predictive of severe neurological complications and hearing loss.Patients carrying rare NLRP3 variants are at risk of severe CAPS; onset before the age of 6 months is associated with more severe neurological involvement and hearing loss. These findings may have an impact on treatment decisions.
- Mutations in the B30.2 domain of pyrin and the risk of ankylosing spondylitis in the Chinese Han population: a case-control study. [JOURNAL ARTICLE]
- Immunol Lett 2014 Jul 15.
Ankylosing spondylitis (AS) and familial Mediterranean fever (FMF) are a common autoimmune disease and a classic autoinflammatory disease, respectively. Mediterranean fever (MEFV) encodes the pyrin protein and is the causal disease gene in FMF. This protein is an important regulator of innate immunity and may play a key role in the development of AS. To identify the mutations in the B30.2 domain of pyrin and to uncover the relationships between these mutations and AS risk in the Chinese Han population, we extracted genomic DNA from the peripheral blood of 200 AS patients and 200 matched controls and performed polymerase chain reactions (PCRs) and direct sequencing on those samples. Statistical analysis indicated that only Met694Val (rs61752717) in the B30.2 domain of pyrin could affect the risk of AS (P=0.042; odds ratio [OR]=5.103; 95% confidence interval [CI]=1.111-23.437 for the model of Met (M) vs. Val (V), P=0.040; OR=5.211; 95% CI=1.127-24.091 for the model of MM vs. MV+VV). Moreover, M694V significantly associated with a higher level of erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) in AS patients. Our results are the first to suggest that the M694V allele of the pyrin was associated with AS risk in the Chinese Han population and that this mutation may be associated with the inflammatory response in the development of AS.
- Ex vivo PBMC cytokine profile in familial Mediterranean fever patients: Involvement of IL-1β, IL-1α and Th17-associated cytokines and decrease of Th1 and Th2 cytokines. [JOURNAL ARTICLE]
- Cytokine 2014 Jul 12; 69(2):248-254.
In order to clarify the inflammatory mechanism underlying familial Mediterranean fever (FMF), we aimed to evaluate the ex vivo cytokine profile of FMF patients during acute attacks and attack-free periods, and compare it with that of healthy controls. The study included 34 FMF patients, of whom 9 were studied during attack and remission and 24 healthy controls. Cytokine levels were evaluated by Luminex technology in serum and supernatants of PBMC (Peripheral Blood Mononuclear Cells) cultures with and without 24h stimulation of monocytes by LPS and T lymphocytes by anti-CD3/CD28 beads. Levels of IL-6 and TNF-α were higher in unstimulated and LPS-stimulated PBMC supernatants of FMF patients in crises compared to controls. In response to LPS stimulation, higher levels of IL-1β and IL-1α were found in PBMC supernatants of patients during crises compared to those in remission and to controls. IFN-γ and IL-4 levels were the lowest in unstimulated and anti-CD3/CD28 stimulated PBMCs supernatants of patients during crises compared to remission and controls. The Th17 cytokines IL-17 and IL-22 were respectively higher in anti-CD3/CD28 stimulated PBMC supernatants of FMF patients during and between crises compared to controls. Amongst cytokines tested in serum, only IL-6 and TNFα were enhanced in FMF patients. The ex vivo study represents an interesting approach to evaluate cytokines' involvement in FMF. Our results suggest an ongoing subclinical inflammation and define an elevated inflammatory cytokine signature, distinctly for M694V homozygous patients. The absence of spontaneous IL-1β release by PBMCs reflects no constitutive activation of the inflammasome in FMF physiopathology.
- Hemophagocytic lymphohistiocytosis and pelger-huët anomaly associated with colchicine intoxication. [Journal Article]
- Hematol Rep 2014 Apr 22; 6(2):5356.
Colchicine is frequently used in the treatment of familial Mediterranean fever (FMF). First symptoms of colchicine intoxication are gastrointestinal disturbances, such as abdominal cramps, diarrhea, pancytopenia and so on. Herein, we report a female FMF patient with pancytopenia and hemophagocytic lymphohitiocytosis (HLH), following colchicine intoxication for committing suicide. To our knowledge, this is the first reported case of a patient with HLH associated with colchicine intoxication.
- Comparison of serum oxidant and antioxidant parameters in familial Mediterranean fever patients (FMF) with attack free period. [JOURNAL ARTICLE]
- Acta Reumatol Port 2014 Jul 1.
Objective: Familial Mediterranean fever (FMF) is an autoinflammatory, autosomal recessive, inherited disease characterized by recurrent self-limiting attacks of serosal surfaces. The imbalance of oxidants/antioxidants may play a role in such attacks. In this study, we aimed to evaluate the relationship between serum paraoxonase (PON1) activity, PON1 phenotype, and other parameters in patients with FMF and healthy controls. Methods: A total of 120 FMF patients with an attack-free period (AFP) and 65 healthy subjects were included in this study. The serum PON1 activity, stimulated paraoxonase (SPON) activity, PON1 phenotype (representing Q192R polymorphism; QQ, QR, RR), arylesterase activity, total oxidant status (TOS), total antioxidant capacity (TAC), oxidative stress index (OSI), advanced oxidative protein products (AOPP), total thiols (TTL), and ischemia-modified albumin (IMA) and cystatin-c (CYS-C) levels were measured. Results: For the QQ phenotype, the median TTL and AOPP levels of the control group were 264.50 (57.75) µmol/L and 21.26 (21.17) mmol/L, respectively, whereas the median TTL, AOPP levels of the patients were 309.00 (47.00) µmol/L and 12.98 (6.96) mmol/L, respectively. There was a statistically significant difference between the patients and controls with the QQ phenotype in terms of TTL and AOPP (p< 0.001 and p= 0.004, respectively). However, there were no statistically significant differences between the QQ and QR+RR phenotypes with respect to TAC, TOS, OSI, or the other parameters. Conclusions: The FMF patients with AFP had higher TTL and lower AOPP levels than the controls. However, other oxidant and antioxidant parameters were similar among the patients during AFP and the controls.
- Identification of Multifaceted Binding Modes for Pyrin and ASC Pyrin Domains Gives Insights into Pyrin Inflammasome Assembly. [JOURNAL ARTICLE]
- J Biol Chem 2014 Jul 8.
Inflammasomes are macromolecular complexes that mediate inflammatory and cell death responses to pathogens and cellular stress signals. Dysregulated inflammasome activation is associated with autoinflammatory syndromes and several common diseases. During inflammasome assembly, oligomerised cytosolic pattern recognition receptors recruit procaspase-1 and procaspase-8 via the adaptor protein ASC. Inflammasome assembly is mediated by pyrin domains (PYDs) and caspase recruitment domains (CARDs), which are protein interaction domains of the death-fold superfamily. However, the molecular details of their interactions are poorly understood. We have studied the interaction between ASC and pyrin PYDs that mediates ASC recruitment to the pyrin inflammasome, which is implicated in the pathogenesis of familial Mediterranean fever (FMF). We demonstrate that both the ASC and pyrin PYDs have multifaceted binding modes, involving three sites on pyrin PYD and two sites on ASC PYD. Molecular docking of pyrin/ASC PYD complexes showed that pyrin PYD can simultaneously interact with up to three ASC PYDs. Furthermore, ASC PYD can self-associate and interact with pyrin, consistent with previous reports that pyrin promotes ASC clustering to form a proinflammatory complex. Finally, the effects of FMF-associated mutations, R42W and A89T, on structural and functional properties of pyrin PYD were investigated. The R42W mutation had a significant effect on structure and increased stability. Although the R42W mutant exhibited reduced interaction with ASC, it also bound less to the pyrin B-box domain responsible for autoinhibition, and hence may be constitutively active. Our data give new insights into the binding modes of PYDs and inflammasome architecture.
- Co-Existence of Familial Mediterranean Fever and Multiple Sclerosis in Two Patients. [JOURNAL ARTICLE]
- Acta Reumatol Port 2014 Jul 1.
Two female patients, aged 23 and 25 years-old diagnosed with Familial Mediterranean fever (FMF) were presented with ataxia and headache. Multiple sclerosis plaques were detected in their spinal and cranial MRI and diagnosis of multiple sclerosis was established. Genetic analysis demonstrated M694 V mutation (one homozygous and the other heterozygous) in both of the patients. Although it is quite rare, coexistence of familial Mediterranean fever and multiple sclerosis should be kept in the mind.
- Assessment of renal involvement in patients with familial Mediterranean fever: a clinical study from Ardabil, Iran. [JOURNAL ARTICLE]
- Intern Med J 2014 Jul 2.
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. The association between FMF and non-amyloid glomerulopathies are unusual. In this study, we describe our experiences and observations about renal involvement in patients with FMF.A total of 108 patients with FMF were enrolled in the study. Twelve patients with FMF were referred to the Nephrology Service, for evaluation and assessment of the degree of renal involvement. All the 12 patients underwent percutaneous ultrasound-guided renal biopsies and genetic analysis.On microscopic examination of the kidney specimens, six patients were found to have amyloidosis, five focal segmental glomerulosclerosis (FSGS), and one patient membranoproliferative glomerulonephritis (MPGN). It seems that in patients with FMF and renal amyloidosis, the response to treatment with colchicine is excellent, but in patients with FMF and FSGS, the response to treatment with colchicine is poor. We present an evidence-based algorithm, constructed based on literature review, to aid decision-making in management of renal involvement in patients with FMF.The results of our study suggest that in patients with FMF and renal involvement, non-amyloid renal lesions should be considered in the differential diagnosis in addition to amyloidosis.