ABSTRACT
Cytochrome c oxidase (COX) catalyzes both electron transfer from cytochrome c to molecular oxygen and the concomitant vectorial proton pumping across the inner mitochondrial membrane. Studying a large family with multiple cases of neonatal ketoacidotic comas and isolated COX deficiency, we have mapped the disease locus to chromosome 17p13.1, in a region encompassing two candidate genes involved in COX assembly-namely, SCO1 and COX10. Mutation screening revealed compound heterozygosity for SCO1 gene mutations in the patients. The mutated allele, inherited from the father, harbored a 2-bp frameshift deletion (DeltaGA; nt 363-364) resulting in both a premature stop codon and a highly unstable mRNA. The maternally inherited mutation (C520T) changed a highly conserved proline into a leucine in the protein (P174L). This proline, adjacent to the CxxxC copper-binding domain of SCO1, is likely to play a crucial role in the tridimentional structure of the domain. Interestingly, the clinical presentation of SCO1-deficient patients markedly differs from that of patients harboring mutations in other COX assembly and/or maturation genes.
Subject(s)
Cytochrome-c Oxidase Deficiency , Electron Transport Complex IV/genetics , Liver Failure/complications , Metabolism, Inborn Errors/complications , Metabolism, Inborn Errors/genetics , Mutation/genetics , Age of Onset , Amino Acid Sequence , Base Sequence , Chromosomes, Human, Pair 17/genetics , DNA Mutational Analysis , Electron Transport , Electron Transport Complex IV/metabolism , Female , Humans , Infant, Newborn , Liver/enzymology , Liver/metabolism , Liver Failure/enzymology , Liver Failure/genetics , Liver Failure/metabolism , Male , Metabolism, Inborn Errors/enzymology , Metabolism, Inborn Errors/metabolism , Molecular Sequence Data , Muscles/enzymology , Muscles/metabolism , Pedigree , Sequence AlignmentSubject(s)
Dosage Forms , Accident Prevention , Administration, Oral , Adult , Aged , Antineoplastic Agents/administration & dosage , Capsules , Child , Drug Administration Routes , Environment, Controlled , Humans , Protective Clothing , Safety , Solutions , Syringes , TabletsSubject(s)
Antineoplastic Agents, Phytogenic/administration & dosage , Etoposide/administration & dosage , Administration, Oral , Adult , Antineoplastic Agents, Phytogenic/adverse effects , Child , Child, Preschool , Drug Packaging , Environment, Controlled , Etoposide/adverse effects , Evaluation Studies as Topic , Humans , Infant , Neoplasms/drug therapy , Pediatric Nursing/methods , Protective Clothing , Safety , SyringesABSTRACT
PIP: "A three level variance components model is used to investigate the importance and magnitude of family and community random effects on infant mortality in Malawi. The results show that only the family random effect is significant in determining infant mortality, even in the presence of controls for a number of observed individual and family characteristics. The results also show that biodemographic and to a lesser extent sociodemographic factors are important determinants of infant mortality. However, the adverse effects of a prior death and a short preceding interval are magnified in the absence [of] controls for unobserved family random effect." (EXCERPT)^ieng
Subject(s)
Family Characteristics , Infant Mortality , Mortality , Residence Characteristics , Africa , Africa South of the Sahara , Africa, Eastern , Demography , Developing Countries , Geography , Malawi , Population , Population DynamicsABSTRACT
Most existing systems of forest site classification attempt to combine vegetation, soil, terrain, geology, climatic and hydrologic factors. The current paper describes an ongoing project to assess the relationship of these factors to forest site capability in Newfoundland. Through the description and classification of forest inventory plots, this project is providing productivity data for species, descriptions of vegetational succession, growth and yield projections, as well as an indication of soil type variation within Forest Management Districts.The cooperative, multi-agency approach employed in this project has benefited all parties concerned, and has resulted in a mix of expertise and focus of resources that would not be possible within one agency. A large and valuable bank of vegetation, soil and site data is being acquired. Elements of the project include: 1) establishment of permanent forest inventory sample plots, in Management Districts throughout the province; 2) training of forest inventory crews so that they recognize forest vegetation, accurately prepare soil descriptions and undertake soil sampling; 3) laboratory analyses of soil samples for chemical and physical parameters, and integration of these results into the forest site classification; and, 4) formal reporting of the forest site classification, including improved descriptions of Damman Forest Site Types (FSTs) and soils.
ABSTRACT
A method for determining the amount of total IgE bound to leucocytes has been devised by measuring that released on incubating various cell number dilutions in acetate buffer pH 4-0. A linear relationship between IgE released and cell number was obtained over a limited concentration range. The method seemed to work satisfactorily with 50 ml of whole blood for those subjects with very high serum levels of total IgE. However, with subjects having a slightly elevated or normal serum IgE level it may be necessary to use twice the amount of blood.
