Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor

Constitutional abnormalities at the imprinted 11p15 growth regulatory region cause syndromes characterized by disordered growth, some of which include a risk of Wilms tumor. We explored their possible contribution to nonsyndromic Wilms tumor and identified constitutional 11p15 abnormalities in genomic lymphocyte DNA from 13 of 437 individuals (3%) with sporadic Wilms tumor without features of growth disorders, including 12% of bilateral cases (P = 0.001) and in one familial Wilms tumor pedigree. No abnormality was detected in 220 controls (P = 0.006). Abnormalities identified included H19 DMR epimutations, uniparental disomy 11p15 and H19 DMR imprinting center mutations (one microinsertion and one microdeletion), thus identifying microinsertion as a new class of imprinting center mutation. Our data identify constitutional 11p15 defects as one of the most common known causes of Wilms tumor, provide mechanistic insights into imprinting disruption and reveal clinically important epigenotype-phenotype associations. The impact on clinical management dictates that constitutional 11p15 analysis should be considered in all individuals with Wilms tumor.     

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1/BRCA2 mutation-negative families but in only 2/2,081 controls (P = 0.0030), and we estimate that BRIP1 mutations confer a relative risk of breast cancer of 2.0 (95% confidence interval = 1.2-3.2, P = 0.012). Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J. Thus, inactivating truncating mutations of BRIP1, similar to those in BRCA2, cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers.     

Extraction and characterization of alumina nanopowders from aluminum dross by acid dissolution process

A significant amount of aluminum dross is available as a waste in foundry industries in Bangladesh. In this study, alumina was extracted from aluminum dross collected from two foundry industries situated in Dhamrai and Manikgang, near the capital city, Dhaka. Aluminum dross samples were found to approximately contain 75wt% Al₂O₃ and 12wt% SiO₂. An acid dissolution process was used to recover the alumina value from the dross. The effects of various parameters, e.g., temperature, acid concentration, and leaching time, on the extraction of alumina were studied to optimize the dissolution process. First, Al(OH)₃ was produced in the form of a gel. Calcination of the Al(OH)₃ gel at 1000℃, 1200℃, and 1400℃ for 2 h produced θ-Al₂O₃, (α+θ)-Al₂O₃, and α-alumina powder, respectively. Thermal characterization of the Al(OH)₃ gel was performed by thermogravimetric/differential thermal analysis (TG/DTA) and differential scanning calorimetry (DSC). The phases and crystallite size of the alumina were determined by X-ray diffraction analysis. The dimensions of the alumina were found to be on the nano level. The chemical compositions of the aluminum dross and alumina were determined by X-ray fluorescence (XRF) spectroscopy. The microstructure and morphology of the alumina were studied with scanning electron microscopy. The purity of the alumina extracted in this study was found to be 99.0%. Thus, it is expected that the obtained alumina powders can be potentially utilized as biomaterials.     

Size-manipulat ion, compacti on and electrical properties of barium manganite nanorods synthesized via the CHM method

A composite-hydroxide mediated method was employed to synthesize barium manganite nanorods.Diameter,surface smoothness and uniformity of these nanorods were optimized by varying reaction temperature and reaction time.The rods with an average diameter of 200 nm and length of1–1.5 μm were obtained at optimum conditions of 200 1C/48 h.The dielectric study of these rods reveals that they have higher value of dielectric constant at lower frequencies which was attributed to the interfacial and rotational type polarizations.Similarly,the increase in dielectric constant with temperature was attributed to the thermal activation of such polarizations.Furthermore,the analysis of ln(J) vs.E1/2characteristics in the temperature range of 300–400 K shows that possible operative conduction mechanism was of Poole–Frenkel type.The value of βexp was found to be 4.85 times greater than the expected theoretical value of feld lowering coeffcient with an internal feld enhancement factor ofα2 23.5.This high value of βexp may be due to some localized electric felds existing inside the sample.