Case Report We confirmed the Muckle-Wells syndrome phenotype of CAPS by NLRP3 genetic testing in a three generation family of Turkish Jewish origin, previously diagnosed with familial Behcet disease due to the presence of mucosal ulcers in several family members with the finding of the HLA-B51 antigen in at least one family member. Eight family members including a deceased grandfather, 4 of his...

Introduction Germline mutations in SLC29A3 result in a range of clinically related, recessive syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) syndrome, Faisalabad histiocytosis (FHC), and sinus histiocytosis with massive lymphadenopathy (SHML). Main symptoms of these diseases are hyperpigmentation with hypertrichosis, sensorineural deafness, diabe...

Introduction There is an increased prevalence of Crohn’s disease (CD) in familial Mediterranean fever (FMF). Previous studies found that neither MEFV, nor NOD2/CARD15 may serve as susceptible genes, leading to FMF-CD comorbidity. In addition to NOD2/CARD15 polymorphism, ATG16L1 and IL-23R gene SNPs were also found to predispose to Crohn’s disease (CD). The role of these genes in the occurrence ...

BACKGROUND In chronic human immunodeficiency virus (HIV) infection, plasma cystatin C may be influenced by factors other than glomerular filtration rate such as inflammation. Statins may improve cystatin C by improving glomerular function or by decreasing inflammation. METHODS The Stopping Atherosclerosis and Treating Unhealthy Bone With Rosuvastatin in HIV (SATURN-HIV) trial randomized 147 p...

Clostridium difficile PCR ribotype 033 (RT033) is found in the gastrointestinal tracts of production animals and, occasionally, humans. The illumigene C. difficile assay (Meridian Bioscience, Inc.) failed to detect any of 52 C. difficile RT033 isolates, while all strains signaled positive for the binary toxin genes but were reported as negative for C. difficile by the Xpert C. difficile/Epi ass...

Existing stochastic models of the galactic magnetic field are considered and found to suffer certain defects. A new model is proposed which overcomes faults of the previous theories while retaining their strengths. This research was supported by the National Aeronautics and Space Administration under Grant NASA NGL 21-002-033. i