Comparison of demographic, clinic and radiological features of patients with axial spondyloarthritis accompanying familial Mediterranean fever to patients with each condition alone.

OBJECTIVE: To compare the demographic, clinical, and radiological features of patients with axial spondyloarthritis (axSpA) accompanying familial Mediterranean fever (FMF) to patients with each condition alone. METHOD: Hacettepe University Hospital database was screened regarding ICD-10 codes for FMF (E85.0) and axSpA (M45). The diagnosis of FMF was confirmed by Tel-Hashomer criteria, and axSpA by the presence of sacroiliitis according to the modified New York criteria or active sacroiliitis on magnetic resonance imaging. As control groups, 136 gender-matched, consequent FMF patients without axSpA and 102 consequent axSpA patients without FMF previously treated with any biological agents were included in the analysis. RESULTS: In patients with FMF + axSpA compared to the axSpA group, age at axSpA symptom onset and age at diagnosis were lower [median with interquartile range (IQR): 21 (17-30) vs 27 (21-37), p < 0.001; 23 (21-38) vs 32 (24-43) years, p = 0.001], moderate to severe hip disease and total hip replacement were more prevalent (23.4% vs 4.7%, p < 0.001; 11.2% vs 2.8%, p = 0.016). In patients with FMF + axSpA compared to the FMF group, age at FMF symptom onset and age at diagnosis were higher [13 (6-30) vs 11 (5-18), p = 0.057; 23 (13-33) vs 18 (10-31) years, p = 0.033] and amyloidosis was more prevalent (6.6% vs 2.2%, p = 0.076). Although the M694V variant (in one or two alleles) was more prevalent in the FMF + axSpA group, the difference was not statistically significant. CONCLUSION: In patients with FMF + axSpA, the age of onset of axSpA was significantly earlier, moderate to severe hip involvement and amyloidosis were more common than in patients with each condition alone.

Behçet Disease serum is immunoreactive to neurofilament medium which share common epitopes to bacterial HSP-65, a putative trigger.

Autoimmune and dysimmune inflammatory mechanisms on a genetically susceptible background are implicated in the etiology of Behçet's Disease (BD). Heat-shock protein-65 (HSP-65) derived from Streptococcus sanguinis was proposed as a triggering factor based on its homology with human HSP-60. However, none of the autoantigens identified so far in sera from BD share common epitopes with bacterial HSP-65 or has a high prevalence. Here, we report that sera from BD patients are immunoreactive against filamentous neuronal processes in the mouse brain, retina and scrotal skin in great majority of patients. By using matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) and peptide mass fingerprinting, Western blotting and peptide blocking experiments, we have identified neurofilament medium (NF-M) as the probable antigen for the serologic response observed. Clustal Omega analyses detected significant structural homology between the human NF-M and bacterial HSP-65 corresponding to amino acids 111-126, 213-232 and 304-363 of mycobacterial HSP-65, which were previously identified to induce proliferation of lymphocytes obtained from BD patients. We also found that sera immunoreactive against NF-M cross-reacted with bacterial HSP-65. These findings suggest that NF-M may be involved in autoimmunity in BD due to its molecular mimicry with bacterial HSP-65.

Familial Mediterranean Fever -- an increasingly important childhood disease in Sweden.

AIM: To characterize Familial Mediterranean Fever (FMF) in western Sweden, focusing on genotype, clinical picture, prevalence and age of onset as well as time to diagnosis. METHODS: Patients with autoinflammatory diseases are continuously registered at the five main hospitals in Western Sweden. Case records of patients with FMF were analysed retrospectively. Population data on immigration was retrieved from Statistics Sweden. RESULTS: Until 2008, 37 patients with FMF were identified. The prevalence among inhabitants of Turkish, Lebanese, Syrian and Iranian origin was 173, 124, 86 and 17/100 000, respectively. Median age at first symptoms was 4 years (range 3 month-37 years) and at diagnosis 10 years (range 2-44 years). Median time from first symptoms to diagnosis was 4 years (range <1 year-34 years). Among 32 patients screened for twelve common mutations, 75% were homozygotes or compound heterozygotes, 16% were heterozygotes and in 9% no mutation was found. In our cohort the frequencies of symptoms were fever 100%, peritonitis 92%, pleuritis 22% and arthritis 11%. CONCLUSIONS: The majority of patients with FMF present during childhood. The prevalence among immigrants in western Sweden is in the same range as in their country of origin. Time to diagnosis needs to be shortened by means of increased awareness of the disease.

The analysis of interleukin-1 receptor antagonist and interleukin-1beta gene polymorphisms in Turkish FMF patients: do they predispose to secondary amyloidosis?

OBJECTIVE: Amyloid development in familial Mediterranean fever (FMF) patients is associated with acute phase response and the acute phase reactant serum amyloid A which is induced by IL-1Beta. Its concentration can increase to more than 1000 fold during inflammation. In view of the inflammatory nature of FMF disease we have investigated whether IL-1Beta and IL-1 receptor antagonist gene polymorphisms may be involved in amyloid development in FMF patients. METHODS: Ninety-nine FMF patients without amyloidosis; 54 FMF patients with amyloidosis and 60 healthy controls samples were genotyped for IL-1Beta-511 (C/T) and IL-1Beta+3953 (C/T) polymorphisms using PCR-RFLP and for IL-1Ra VNTR polymorphism using PCR. RESULTS: The allele and genotype frequencies of IL-1Beta-511 (C/T), IL-1Beta+3953 (C/T) and IL-1Ra VNTR polymorphisms in FMF patients with and without amyloidosis were all compared with those in controls. There were no significant differences between FMF patients with and without amyloidosis and healthy control samples for these polymorphisms (all P-values are >0.05). These polymorphisms were not associated with M694V mutation in FMF patients with and without amyloidosis. CONCLUSION: IL-1Beta-511 (C/T), IL-1Beta+3953 (C/T) and IL-1Ra VNTR polymorphisms are not associated with the development of amyloid in FMF patients.

Embolization of high-flow craniofacial vascular malformations with onyx.

BACKGROUND AND PURPOSE: Various techniques and materials have been used for the endovascular treatment of craniofacial high-flow arteriovenous vascular malformations, because their rarity precludes standardization of their treatment. The aim of this retrospective review is to assess Onyx as the primary embolic agent in the treatment of these vascular malformations. MATERIALS AND METHODS: Six patients with arteriovenous fistulas and 3 with arteriovenous malformations (AVMs) of the head and neck region were treated with intra-arterial (IA)/direct percutaneous injections of Onyx. Adjunctive maneuvers used during embolization included external compression of the arterial feeders or venous outflow (6 patients), balloon assist (4 patients), and direct embolization of the draining vein remote to the fistula site (1 patient). n-butyl-2-cyanoacrylate (n-BCA) was used in addition to Onyx for rapid induction of thrombosis in a large venous pouch (1 patient) and for cost containment purposes (1 patient). Four patients were treated surgically after the embolization. RESULTS: There were no neurologic complications secondary to the embolization procedure. The arteriovenous shunt was eliminated in all of the fistulous lesions and 2 of the 3 AVMs. The embolization was incomplete in 1 patient with a large AVM who declined further endovascular or surgical procedures. Untoward events included 2 instances of catheter entrapment (of 9 IA injections), blackish skin discoloration necessitating surgical revision in 1 patient, and difficulty of balloon deflation/wire withdrawal during a balloon-assisted embolization. CONCLUSION: Onyx appears to be a safe and effective liquid embolic agent for use in the treatment of craniofacial high-flow vascular malformations with distinct advantages and disadvantages compared with n-BCA.

CT angiography evaluation of the renal vascular pathologies: a pictorial review.

The emergence of CT angiography (CTA) has a groundbreaking impact on the evaluation of renal vessels and is gradually replacing the conventional catheter angiography as the standard imaging procedure. In this review, we aimed to describe the renal CTA technique and imaging findings of several renal arterial (i.e. atherosclerosis, fibromuscular dysplasia, aneurysms of the renal arteries, dissection, vasculitidis, follow-up of patients with renal arterial stent) and venous (i.e. nut-cracker syndrome, pelvic congestion syndrome) pathologies.

Venous vascular malformations of the craniofacial region: pre-operative embolisation with direct percutaneous puncture and N-butyl cyanoacrylate.

Craniofacial venous vascular malformations cause severe cosmetic problems and yet these lesions are not candidates for transcatheter embolisation owing to the lack of arterial feeders. The purpose of this study was to evaluate the effectiveness of pre-operative embolisation of these lesions with N-butyl 2-cyanoacrylate (NBCA) via direct puncture. Between September 2003 and April 2006, 13 patients (7 female; age range, 6-64 years; mean, 16.7 years) were embolised with direct puncture and injection of NBCA. All of the patients were referred from plastic surgery with an operational plan. Angiography performed in all patients showed no or little arterial staining. NBCA diluted with iodized oil at a ratio of 1:6 (18%) was injected via a percutaneously placed 21 gauge needle. Complete embolisation was achieved in 8 patients and partial embolisation in the remaining 5. A total of 18 sessions of embolisation were performed on 13 patients. Nine patients underwent only one embolisation session, three patients underwent two sessions and only one patient underwent three sessions. The mean volume of NBCA used per session was 5.8 ml, ranging from 1-12 ml. All patients underwent a successful surgical resection to improve cosmetic disfigurement within 10-15 days after the embolisation procedure. Mean follow-up time was 22 months. One patient experienced skin necrosis on her nose after embolisation. No other complications related to the procedure were observed. In conclusion, pre-operative NBCA embolisation with direct puncture is a safe and easy procedure. It can increase the success of the surgical treatment of these lesions.

Tunneled internal jugular catheters in adult patients: comparison of outcomes in hemodialysis versus infusion catheters.

BACKGROUND: Tunneled central venous catheters placed by interventional radiologists are now widely used for hemodialysis and infusion therapies throughout the world. However, complications such as infections and malfunctions still remain a major concern in oncology and hemodialysis patients. PURPOSE: To evaluate the long-term follow-up results of tunneled central venous catheters in an adult population in terms of infectious complications and malfunction rates in dialysis and oncology patients. MATERIAL AND METHODS: We retrospectively reviewed the hospital charts and our electronic database for 434 tunneled internal jugular catheters in 335 consecutive patients between December 2002 and March 2006. Mean patient age was 57 years (range 23-86 years) in the hemodialysis group and 45 years (range 18-83 years) in the infusion group. A total of 224 hemodialysis catheters were placed in 168 patients (68 females, 100 males) and 210 infusion catheters in 167 patients (48 females, 119 males). RESULTS: Technical success rate was 100%. Mean duration of catheter use was 86 days (1-652 days) and 60 days (2-686 days) for hemodialysis and infusion catheters, respectively. A total of 107 hemodialysis (47%) and 95 infusion catheters (45%) were electively removed due to completion of therapy and resolution of need for dialysis. Revisions were performed 0.22 and 0.11 per 100 catheters days in the hemodialysis and infusion groups, respectively. Our total infection rate was 0.10 episodes per 100 catheter days, and the rate of infections necessitating catheter removal was 0.05 episodes per 100 catheter days in the hemodialysis group, which is lower than that reported in other big series. However, in the infusion group, the rate of infections necessitating catheter removal was 0.28 episodes per 100 catheter days. CONCLUSION: Long-term central venous accesses using tunneled internal jugular catheters appeared to be safe and effective for both hemodialysis and long-term infusion therapies, with relatively higher infection rates in oncologic patients.

Bronchial to coronary artery fistulas: an important sign of silent coronary artery disease and potential complication during bronchial artery embolization.

Coronary artery fistulas are rare and usually asymptomatic congenital anomalies generally diagnosed incidentally during coronary angiographies. Herein, we present a case of bronchial to coronary artery fistula which was diagnosed incidentally during bronchial artery embolization. Embolization was performed successfully without complication, and an underlying important coronary artery stenosis was subsequently found by coronary computed tomography angiography.

Bleeding pulmonary artery pseudoaneurysm secondary to squamous cell lung cancer: computed tomography findings and endovascular management.

A case of bleeding pulmonary artery pseudoaneurysm secondary to squamous cell lung cancer is reported. The patient presented with massive hemoptysis, diagnosis was made with multidetector computed tomography, and the pseudoaneurysm was successfully embolized with platinum coils. Hemoptysis ceased following the procedure.