13 research outputs found
Recommended from our members
A COMPARISON OF HANFORD AND SAVANNAH RIVER SITE HIGH-LEVEL WASTES
This study is a simple comparison of high-level waste from plutonium production stored in tanks at the Hanford and Savannah River sites. Savannah River principally used the PUREX process for plutonium separation. Hanford used the PUREX, Bismuth Phosphate, and REDOX processes, and reprocessed many wastes for recovery of uranium and fission products. Thus, Hanford has 55 distinct waste types, only 17 of which could be at Savannah River. While Hanford and Savannah River wastes both have high concentrations of sodium nitrate, caustic, iron, and aluminum, Hanford wastes have higher concentrations of several key constituents. The factors by which average concentrations are higher in Hanford salt waste than in Savannah River waste are 67 for {sup 241}Am, 4 for aluminum, 18 for chromium, 10 for fluoride, 8 for phosphate, 6 for potassium, and 2 for sulfate. The factors by which average concentrations are higher in Hanford sludges than in Savannah River sludges are 3 for chromium, 19 for fluoride, 67 for phosphate, and 6 for zirconium. Waste composition differences must be considered before a waste processing method is selected: A method may be applicable to one site but not to the other
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (DNAH5) or intermediate (DNAI1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for PCD is available for the most common mutations. The respiratory manifestations of PCD (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis and chronic otitis media) reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of PCD patients have laterality defects (including situs inversus totalis and, less commonly, heterotaxy and congenital heart disease), reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most PCD patients have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with PCD
Kinase Mutations in Human Disease: Interpreting Genotype-phenotype Relationships
Protein kinases are one of the largest families of evolutionarily related proteins and comprise one of the most abundant gene families in humans. Here we survey kinase gene mutations from the perspective of human disease phenotypes and further analyse the structural features of mutant kinases, including mutational hotspots. Our evaluation of the genotype-phenotype relationship across 915 human kinase mutations - that underlie 67 single-gene diseases, mainly inherited developmental and metabolic disorders and also certain cancers - enhances our understanding of the role of kinases in development, kinase dysfunction in pathogenesis and kinases as potential targets for therapy