Familial Mediterranean Fever: Observations from a pilot gene expression microarray analysis study.

Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease affecting people of Mediterranean ancestry. The disease is caused by mutations in the MEFV gene located on chromosome 16p13.3. The aim of this pilot study was to assess global gene expression and identify genes and pathways involved in FMF that could be downstream to MEFV mutations or could be novel involved. EDTA blood samples were collected from 14 patients showing FMF-like symptoms and age-matched to 7 controls showing healthy conditions. Microarray was used to assess global gene expression and identify genes and pathways involved in FMF. When we compared individuals with MEFV mutations (homozygous and heterozygous) to control group, probe sets of receptor proteins HLA-DQA1 and HLA-DQB1 were significantly over expressed by 5 folds  among the patients group. Despite its limitations, this pilot study could strongly suggest that the role of HLA be investigated in the pathogenesis of MEFV mutation and as a potential moderator explaining penetrance and variation in symptoms among patient groups.

PET/MR Imaging in Evaluating Treatment Failure of Head and Neck Malignancies: A Neck Imaging Reporting and Data System-Based Study.

BACKGROUND AND PURPOSE: PET/MR imaging is a relatively new hybrid technology that holds great promise for the evaluation of head and neck cancer. The aim of this study was to assess the performance of simultaneous PET/MR imaging versus MR imaging in the evaluation of posttreatment head and neck malignancies, as determined by its ability to predict locoregional recurrence or progression after imaging. MATERIALS AND METHODS: The electronic medical records of patients who had posttreatment PET/MR imaging studies were reviewed, and after applying the exclusion criteria, we retrospectively included 46 studies. PET/MR imaging studies were independently reviewed by 2 neuroradiologists, who recorded scores based on the Neck Imaging Reporting and Data System (using CT/PET-CT criteria) for the diagnostic MR imaging sequences alone and the combined PET/MR imaging. Treatment failure was determined with either biopsy pathology or initiation of new treatment. Statistical analyses including univariate association, interobserver agreement, and receiver operating characteristic analysis were performed. RESULTS: There was substantial interreader agreement among PET/MR imaging scores (κ = 0.634; 95% CI, 0.605-0.663). PET/MR imaging scores showed a strong association with treatment failure by univariate association analysis, with P < .001 for the primary site, neck lymph nodes, and combined sites. Receiver operating characteristic curves of PET/MR imaging scores versus treatment failure indicated statistically significant diagnostic accuracy (area under curve range, 0.864-0.987; P < .001). CONCLUSIONS: Simultaneous PET/MR imaging has excellent discriminatory performance for treatment outcomes of head and neck malignancy when the Neck Imaging Reporting and Data System is applied. PET/MR imaging could play an important role in surveillance imaging for head and neck cancer.

Posttransplantation complications of lower limb polytetrafluoroethylene grafts in children.

Two children had polytetrafluoroethylene (PTFE) arteriovenous thigh grafts for hemodialysis access. In one patient, after renal transplantation, a steal syndrome, which prevented renal graft function, developed. The renal transplant functioned promptly when the vascular graft was ligated. In the second case, acute thrombosis of the PTFE graft resulted in transient hypertensive encephalopathy. PTFE thigh grafts, because of the diversion of a large percentage of cardiac output through them, may have dramatic and dangerous consequences in transplanted children.