The aim of this study was to determine the Mediterranean fever (MEFV) gene mutations and their clinical correlations in children with familial Mediterranean fever (FMF) in southeast Turkey. Clinical and laboratory characteristics of 147 (65 males, 82 females) consecutive children with FMF having a positive MEFV gene mutation were prospectively investigated. Patients with negative MEFV gene mutations or atypical FMF presentations and those from other regions of the country were excluded. Clinical manifestations and disease severity scores were recorded. The six most frequent MEFV mutations including M694V, V726A, R726H, P369S, E148Q and P369S were investigated by a reverse hybridization test method. The median age of study group was 9.0 years, median age at diagnosis was 7.8 years, median age at disease onset was 5.0 years, and median follow-up duration was 4.0 years. A positive family history of FMF and parent-to-offspring transmission was found in 58.5 and 42.2 % of families, respectively. The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients. The M694V subgroup had higher mean disease severity score and longer attack duration compared with E148Q and other mutations subgroups (p < 0.05). Two patients with amyloidosis had the M694V homozygote genotype. In conclusion contrast to other regions and many other ethnicities of the world, the most frequent MEFV gene mutation was E148Q in southeast Turkey. The M694V mutation frequency was lower, and disease severity was relatively mild in FMF children of this region.
Uniform, open-ended carbonaceous tubular nanostructures have been synthesized via a hydrothermal route using macroporous anodic alumina membrane (AAO, d ≈ 200 nm) as template and the biomass derivative 2-furaldehyde as carbon precursor. Surface properties and functionality are controllable via selection of postcarbonization temperature, whereby the material shows increasingly hydrophobic, polarizable character as treatment temperature increases. Surface chemistry and carbon condensation were analyzed by a variety of surface sensitive techniques (i.e., FTIR, Raman, XPS), while tube texture, dimensions and uniformity were examined via gas adsorption studies and electron microscopy. Significantly, the presented synthesis allows access to carbonaceous tubular nanostructures with functional pore walls suitable for the introduction of a wide range of important chemical moieties, including as demonstrated here, the successful grafting of thermoresponsive polymers (e.g., poly-N-isopropylacrylamide (PNiPAAm)), providing materials with temperaturedependent hydrophilic-hydrophobic altering behavior and consequent controlled dispersibility in an aqueous phase.
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